From 4c412785d34b12f3976c38624234016f7c0a192c Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Wed, 5 Apr 2023 12:26:36 -0700 Subject: [PATCH] update release files --- docs/metrics/doid.md | 24 +- docs/metrics/icd10cm.md | 2 +- docs/metrics/icd10who.md | 2 +- docs/metrics/ncit.md | 2 +- docs/metrics/omim.md | 2 +- docs/metrics/ordo.md | 2 +- docs/reports/mapped_deprecated.md | 2 +- docs/reports/mapped_deprecated_doid.md | 2 + docs/reports/unmapped.md | 4 +- docs/reports/unmapped_doid.md | 233 +- docs/reports/unmapped_omim.md | 294 +- src/mappings/doid.sssom.tsv | 16062 +++++----- src/mappings/icd10cm.sssom.tsv | 2 +- src/mappings/icd10who.sssom.tsv | 2 +- .../mondo-sources-all-lexical-2.sssom.tsv | 25204 ++++++++-------- src/mappings/ncit.sssom.tsv | 2 +- src/ontology/imports/omo_import.owl | 4 +- src/ontology/imports/ro_import.owl | 4 +- src/ontology/lexmatch/README.md | 34 +- .../mondo-only/unmapped_ncit_mondo.tsv | 1 - .../mondo-only/unmapped_omim_mondo.tsv | 13 +- .../mondo-only/unmapped_omim_mondo_exact.tsv | 143 +- .../mondo-only/unmapped_ordo_mondo_exact.tsv | 1 - .../mondo_broadmatch_doid.tsv | 4 +- .../mondo_closematch_doid.tsv | 491 +- .../mondo_closematch_icd10cm.tsv | 45 +- .../mondo_closematch_ncit.tsv | 14 +- .../mondo_closematch_omim.tsv | 6 + .../mondo_closematch_orphanet.tsv | 1 + .../mondo_exactmatch_doid.tsv | 425 +- .../mondo_exactmatch_ncit.tsv | 29 +- .../mondo_exactmatch_omim.tsv | 156 +- .../mondo_exactmatch_orphanet.tsv | 2 +- .../mondo_narrowmatch_doid.tsv | 6 +- src/ontology/lexmatch/unmapped_doid_lex.tsv | 378 +- .../lexmatch/unmapped_doid_lex_exact.tsv | 47 +- src/ontology/lexmatch/unmapped_ncit_lex.tsv | 4 +- src/ontology/lexmatch/unmapped_ordo_lex.tsv | 1 + src/ontology/metadata/doid-metrics.json | 100 +- src/ontology/metadata/icd10cm-metrics.json | 2 +- src/ontology/metadata/icd10who-metrics.json | 2 +- src/ontology/metadata/ncit-metrics.json | 2 +- src/ontology/metadata/omim-metrics.json | 2 +- src/ontology/metadata/ordo-metrics.json | 2 +- .../reports/component_signature-doid.tsv | 20 +- .../doid_excluded_terms_in_mondo_xrefs.tsv | 2 + ..._excluded_terms_in_mondo_xrefs_summary.tsv | 2 +- .../doid_exclusion_reasons.robot.template.tsv | 2 + ...mapped_deprecated_terms.robot.template.tsv | 2 + src/ontology/reports/doid_mapping_status.tsv | 474 +- src/ontology/reports/doid_term_exclusions.txt | 2 + src/ontology/reports/doid_unmapped_terms.tsv | 231 +- .../reports/mirror_signature-doid.tsv | 10 + .../reports/mirror_signature-mondo.tsv | 162 + .../mondo-ingest-edit.owl-obo-report.tsv | 33 +- .../ncit_excluded_terms_in_mondo_xrefs.tsv | 1 + ..._excluded_terms_in_mondo_xrefs_summary.tsv | 2 +- src/ontology/reports/omim_mapping_status.tsv | 324 +- src/ontology/reports/omim_unmapped_terms.tsv | 162 +- src/ontology/slurp/doid.tsv | 235 +- src/ontology/slurp/omim.tsv | 162 +- 61 files changed, 21937 insertions(+), 23649 deletions(-) diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 0495d194..c22f3803 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 25 | -| Axioms | 106474 | -| Logical axioms | 15508 | -| Classes | 12738 | +| Axioms | 106567 | +| Logical axioms | 15531 | +| Classes | 12754 | | Object properties | 2 | | Data properties | 0 | | Individuals | 0 | @@ -32,10 +32,10 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 78203 | +| AnnotationAssertion | 78257 | | DisjointClasses | 26 | -| Declaration | 12763 | -| SubClassOf | 15482 | +| Declaration | 12779 | +| SubClassOf | 15505 | #### Entity namespaces: axiom counts by namespace @@ -44,17 +44,17 @@ | ------ | ----- | | oboInOwl | 11 | | owl | 2 | -| DOID | 11217 | -| HP | 106 | +| DOID | 11225 | +| HP | 108 | | xsd | 1 | | CL | 60 | | skos | 5 | | BFO | 2 | | rdfs | 2 | | FOODON | 24 | -| NCBITaxon | 318 | +| NCBITaxon | 319 | | TRANS | 13 | -| SYMP | 301 | +| SYMP | 306 | | dc11 | 2 | | rdf | 1 | | CHEBI | 90 | @@ -70,7 +70,7 @@ | Metric | Value | | ------ | ----- | -| Class | 43914 | +| Class | 43976 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 4f3efd41..38426ce7 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index fb762056..3c5c1591 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index ae6f7937..20796592 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 2d7f6b02..1e39d79c 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/omim.owl ### Entities and axioms diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 50709cd3..010d2154 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/ordo.owl ### Entities and axioms diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 8b7cf8dc..5ec0504e 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -4,7 +4,7 @@ | [ORDO](./mapped_deprecated_ordo.md) | 574 | | [OMIM](./mapped_deprecated_omim.md) | 47 | | [NCIT](./mapped_deprecated_ncit.md) | 33 | -| [DOID](./mapped_deprecated_doid.md) | 26 | +| [DOID](./mapped_deprecated_doid.md) | 28 | | [ICD10WHO](./mapped_deprecated_icd10who.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md index c0c61eff..2ea174f5 100644 --- a/docs/reports/mapped_deprecated_doid.md +++ b/docs/reports/mapped_deprecated_doid.md @@ -10,6 +10,7 @@ | MONDO:0002063 | DOID:1634 | MONDO:equivalentObsolete | | MONDO:0002202 | DOID:2088 | MONDO:equivalentObsolete | | MONDO:0002203 | DOID:2089 | MONDO:equivalentObsolete | +| MONDO:0002444 | DOID:2848 | MONDO:equivalentObsolete | | MONDO:0002633 | DOID:338 | MONDO:equivalentObsolete | | MONDO:0003495 | DOID:5532 | MONDO:equivalentObsolete | | MONDO:0003723 | DOID:5996 | MONDO:equivalentObsolete | @@ -21,6 +22,7 @@ | MONDO:0008060 | DOID:0080088 | MONDO:equivalentObsolete | | MONDO:0009679 | DOID:0110631 | MONDO:equivalentObsolete | | MONDO:0010936 | DOID:0060208 | MONDO:equivalentObsolete | +| MONDO:0010975 | DOID:0110071 | MONDO:equivalentObsolete | | MONDO:0011010 | DOID:0050819 | MONDO:equivalentObsolete | | MONDO:0011910 | DOID:0110302 | MONDO:equivalentObsolete | | MONDO:0012215 | DOID:0110300 | MONDO:equivalentObsolete | diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index bce14838..6e4e9e5c 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -3,10 +3,10 @@ |:-----------------------------------|:------------|:---------------|:-----------------|:--------------------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| | [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | | [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,161 | 79,234 | 98.6% | -| [DOID](./unmapped_doid.md) | 13,689 | 2,626 | 2,473 | 2,447 | 11,062 | 10,287 | 775 | 7.0% | | [NCIT](./unmapped_ncit.md) | 174,300 | 148,488 | 5,055 | 5,022 | 20,757 | 7,033 | 13,724 | 66.1% | -| [OMIM](./unmapped_omim.md) | 28,750 | 18,958 | 1,353 | 1,306 | 8,439 | 8,214 | 225 | 2.7% | +| [DOID](./unmapped_doid.md) | 13,699 | 2,628 | 2,475 | 2,447 | 11,070 | 10,506 | 564 | 5.1% | | [ORDO](./unmapped_ordo.md) | 10,866 | 1,718 | 1,418 | 844 | 9,148 | 8,999 | 149 | 1.6% | +| [OMIM](./unmapped_omim.md) | 28,750 | 18,958 | 1,353 | 1,306 | 8,439 | 8,374 | 65 | 0.8% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index cc3c15b4..3ac8be92 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -2,11 +2,9 @@ ### Unmapped mappable terms _(!excluded, !deprecated)_ | subject_id | subject_label | |:-------------|:-----------------------------------------------------------------------------------------------| -| DOID:0112248 | 17-beta hydroxysteroid dehydrogenase 3 deficiency | | DOID:0081133 | 3-methylglutaconic aciduria type 7a | | DOID:0081134 | 3-methylglutaconic aciduria type 7b | | DOID:0081069 | A53 diffuse large B-cell lymphoma | -| DOID:0081289 | Antley-Bixler syndrome | | DOID:0081290 | Antley-Bixler syndrome without disordered steroidogenesis | | DOID:0111964 | B cell and dendritic cell deficiency | | DOID:0080725 | BASAN syndrome | @@ -14,13 +12,8 @@ | DOID:0081130 | BH4-deficient hyperphenylalaninemia C | | DOID:0081131 | BH4-deficient hyperphenylalaninemia D | | DOID:0081064 | BN2 diffuse large B-cell lymphoma | -| DOID:0060018 | CD3gamma deficiency | | DOID:0081250 | CIC-rearranged sarcoma | | DOID:0080906 | CNS neuroblastoma with FOXR2 activation | -| DOID:0081122 | Catel Manzke syndrome | -| DOID:0080907 | Cockayne syndrome A | -| DOID:0080908 | Cockayne syndrome B | -| DOID:0111894 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | | DOID:0081249 | EWSR1-negative small round cell tumor | | DOID:0081065 | EZB diffuse large B-cell lymphoma | | DOID:0081070 | EZB-MYC+ diffuse large B-cell lymphoma | @@ -41,63 +34,33 @@ | DOID:0080738 | Ehlers-Danlos syndrome spondylodysplastic type 1 | | DOID:0080739 | Ehlers-Danlos syndrome spondylodysplastic type 3 | | DOID:0111180 | French Canadian Leigh disease | -| DOID:0112250 | Gaucher's disease type IIIC | -| DOID:0112127 | HRPT-related hyperuricemia | -| DOID:11166 | Human papillomavirus infectious disease | | DOID:0080875 | IDH-mutant anaplastic astrocytoma | | DOID:0080882 | IDH-mutant and 1p/19q-codeleted oligodendroglioma | | DOID:0080876 | IDH-wildtype anaplastic astrocytoma | | DOID:0080878 | IDH-wildtype glioblastoma | -| DOID:0112319 | Kanzaki disease | -| DOID:0080722 | Kenny-Caffey syndrome type 1 | -| DOID:0080723 | Kenny-Caffey syndrome type 2 | | DOID:0080990 | King Denborough syndrome | | DOID:0081066 | MCD diffuse large B-cell lymphoma | -| DOID:0112179 | Mayer-Rokitansky-Kuster-Hauser syndrome type 2 | -| DOID:0112107 | McLeod syndrome | -| DOID:0080670 | Meesmann corneal dystrophy 1 | -| DOID:0080671 | Meesmann corneal dystrophy 2 | -| DOID:0112258 | N-acetylglutamate synthase deficiency | | DOID:0081067 | N1 diffuse large B-cell lymphoma | +| DOID:0081334 | Nestor-Guillermo progeria syndrome | | DOID:0050192 | Nipah virus encephalitis | -| DOID:0080697 | Opitz GBBB syndrome | | DOID:0080855 | Parkinsonism | -| DOID:0081007 | RNASET2-deficient cystic leukoencephalopathy | | DOID:0112060 | Raynaud-Claes syndrome | | DOID:0081068 | ST2 diffuse large B-cell lymphoma | -| DOID:0081272 | Sandestig-Stefanova syndrome | -| DOID:0112318 | Schindler disease type 1 | -| DOID:0081273 | Siddiqi syndrome | -| DOID:0081270 | Smith-McCort dysplasia 1 | -| DOID:0081271 | Smith-McCort dysplasia 2 | -| DOID:0112102 | Sotos syndrome 2 | -| DOID:0080676 | Stickler syndrome 1 | -| DOID:0080675 | Stickler syndrome 2 | | DOID:0112126 | Stocco Dos Santos type X-linked intellectual disability | | DOID:0111965 | T cell, B cell, and NK cell deficiency | -| DOID:0081312 | T-cell non-Hodgkin lymphoma | | DOID:0080817 | T2-high asthma | | DOID:0080818 | T2-low asthma | -| DOID:0112042 | Tonne-Kalscheuer syndrome | -| DOID:0111840 | Van Esch-O'Driscoll syndrome | +| DOID:0081333 | Wiedemann-Rautenstrauch syndrome | | DOID:0081059 | X-linked central diabetes insipidus | | DOID:0111863 | X-linked congenital bilateral absence of vas deferens | -| DOID:0111737 | X-linked deafness 2 | -| DOID:0111741 | X-linked deafness 5 | | DOID:0111844 | X-linked intellectual developmental disorder 108 | | DOID:0080984 | X-linked intellectual developmental disorder 109 | | DOID:0080754 | X-linked keratosis follicularis spinulosa decalvans | -| DOID:0112238 | X-linked lissencephaly 2 | | DOID:0081123 | X-linked mental retardation Gustavson type | | DOID:0080982 | X-linked mental retardation-hypotonic facies syndrome-1 | | DOID:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | | DOID:0081060 | X-linked nephrogenic diabetes insipidus | -| DOID:0111798 | X-linked nephrolithiasis type I | -| DOID:0111829 | X-linked spinocerebellar ataxia 1 | | DOID:0111830 | X-linked spinocerebellar ataxia 2 | -| DOID:0111831 | X-linked spinocerebellar ataxia 3 | -| DOID:0111832 | X-linked spinocerebellar ataxia 4 | -| DOID:0111833 | X-linked spinocerebellar ataxia 5 | | DOID:0080839 | X-linked warfarin sensitivity | | DOID:0080891 | YAP1-MAMLD1 fusion-positive supratentorial ependymoma | | DOID:0081237 | acromesomelic dysplasia-3 | @@ -108,17 +71,12 @@ | DOID:0081090 | acute myeloid leukemia with biallelic mutation of CEBPA | | DOID:0081084 | acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) | | DOID:0081083 | acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) | -| DOID:0081087 | acute myeloid leukemia with maturation | -| DOID:0081095 | acute myeloid leukemia with mutated CEBPA | | DOID:0081091 | acute myeloid leukemia with mutated RUNX1 | | DOID:0081092 | acute myeloid leukemia with myelodysplasia-related changes | | DOID:0081096 | acute myeloid leukemia with t(1;22)(p13;q13) | | DOID:0081080 | acute myeloid leukemia with t(6;9) (p23;q34.1) | | DOID:0081093 | acute myeloid leukemia with t(8;21); (q22; q22.1) | -| DOID:0081086 | acute myeloid leukemia without maturation | -| DOID:0081082 | acute myelomonocytic leukemia | | DOID:0080998 | acute necrotizing pancreatitis | -| DOID:0081081 | acute promyelocytic leukemia with PML-RARA | | DOID:0080816 | adult-onset severe asthma | | DOID:0081136 | agammaglobulinemia 1 | | DOID:0081142 | agammaglobulinemia 10 | @@ -129,18 +87,12 @@ | DOID:0081140 | agammaglobulinemia 8A | | DOID:0081143 | agammaglobulinemia 8B | | DOID:0081141 | agammaglobulinemia 9 | -| DOID:0112321 | alacrima, achalasia, and impaired intellectual development syndrome | | DOID:0080951 | alopecia-mental retardation syndrome 3 | -| DOID:0080950 | alopecia-mental retardation syndrome 4 | -| DOID:0080953 | amelogenesis imperfecta type 1J | -| DOID:0080960 | amelogenesis imperfecta type 2A6 | | DOID:0111721 | amelogenesis imperfecta type 3 | -| DOID:0111246 | amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 | | DOID:0080854 | anaplastic pleomorphic xanthoastrocytoma | | DOID:0080607 | anterior segment dysgenesis 2 | | DOID:0080610 | anterior segment dysgenesis 5 | | DOID:0080685 | aortic dissection | -| DOID:0080927 | apolipoprotein A-IV associated amyloidosis | | DOID:0080978 | arthrogryposis multiplex congenita-1 | | DOID:0080979 | arthrogryposis multiplex congenita-3 | | DOID:0080980 | arthrogryposis multiplex congenita-4 | @@ -153,28 +105,22 @@ | DOID:0080877 | astrocytoma, IDH-mutant, grade 4 | | DOID:0080742 | autoimmune cholangitis | | DOID:0080994 | autoimmune epilepsy | -| DOID:0081242 | autoimmune interstitial lung, joint, and kidney disease | | DOID:0080321 | autonomic nervous system benign neoplasm | -| DOID:0080770 | autosomal dominant beta thalassemia | | DOID:0112373 | autosomal dominant auditory neuropathy 3 | | DOID:0080807 | autosomal dominant craniodiaphyseal dysplasia | | DOID:0080801 | autosomal dominant craniometaphyseal dysplasia | -| DOID:0070136 | autosomal dominant cutis laxa 2 | | DOID:0070020 | autosomal dominant dyskeratosis congenita 4 | -| DOID:0111269 | autosomal dominant hyaline body myopathy | | DOID:0080755 | autosomal dominant keratosis follicularis spinulosa decalvans | -| DOID:0112013 | autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques | | DOID:0112165 | autosomal dominant nonsyndromic deafness 74 | | DOID:0112166 | autosomal dominant nonsyndromic deafness 75 | | DOID:0112167 | autosomal dominant nonsyndromic deafness 76 | | DOID:0112168 | autosomal dominant nonsyndromic deafness 77 | | DOID:0112159 | autosomal dominant nonsyndromic deafness 78 | | DOID:0112160 | autosomal dominant nonsyndromic deafness 79 | -| DOID:0112285 | autosomal dominant spondyloepiphyseal dysplasia tarda | | DOID:0111909 | autosomal dominant thrombophilia due to protein C deficiency | +| DOID:0070368 | autosomal recessive chronic granulomatous disease 5 | | DOID:0111864 | autosomal recessive congenital bilateral absence of vas deferens | | DOID:0111797 | autosomal recessive congenital nystagmus | -| DOID:0080802 | autosomal recessive craniometaphyseal dysplasia | | DOID:0081177 | autosomal recessive intellectual developmental disorder 1 | | DOID:0081185 | autosomal recessive intellectual developmental disorder 10/20 | | DOID:0081186 | autosomal recessive intellectual developmental disorder 11 | @@ -236,44 +182,32 @@ | DOID:0081235 | autosomal recessive intellectual developmental disorder 76 | | DOID:0081236 | autosomal recessive intellectual developmental disorder 77 | | DOID:0081184 | autosomal recessive intellectual developmental disorder 9/26 | -| DOID:0080762 | autosomal recessive limb-girdle muscular dystrophy type 2Z | | DOID:0112162 | autosomal recessive nonsyndromic deafness 116 | -| DOID:0112293 | autosomal recessive spondyloepiphyseal dysplasia tarda | | DOID:0112291 | autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type | | DOID:0111904 | autosomal recessive thrombophilia due to protein C deficiency | | DOID:0081114 | benign familial infantile seizures 1 | | DOID:0081115 | benign familial infantile seizures 2 | -| DOID:0081116 | benign familial infantile seizures 3 | | DOID:0081117 | benign familial infantile seizures 4 | | DOID:0081118 | benign familial infantile seizures 5 | -| DOID:0081119 | benign familial infantile seizures 6 | | DOID:0080602 | benign teratoma | | DOID:0112313 | brain small vessel disease | -| DOID:0112314 | brain small vessel disease 2 | | DOID:0081323 | breast implant illness | -| DOID:11650 | bronchopulmonary dysplasia | | DOID:0080652 | calcium oxalate nephrolithiasis | | DOID:0080721 | calvarial doughnut lesions with bone fragility | | DOID:0080909 | castration-resistant prostate carcinoma | | DOID:0081245 | cauda equina neuroendocrine tumor | -| DOID:0080700 | caudal regression syndrome | -| DOID:0081030 | central conducting lymphatic anomaly | | DOID:0081315 | central nervous system tumor with BCOR internal tandem duplication | | DOID:0112310 | central precocious puberty 1 | | DOID:0112309 | central precocious puberty 2 | | DOID:0111223 | centronuclear myopathy 1 | -| DOID:0111224 | centronuclear myopathy 4 | | DOID:0081276 | cerebellar atrophy, visual impairment, and psychomotor retardation | -| DOID:0080910 | cerebrooculofacioskeletal syndrome | | DOID:0080794 | childhood acute megakaryoblastic leukemia | | DOID:0080830 | childhood low-grade glioma | -| DOID:0112224 | chondrodysplasia with joint dislocations gPAPP type | | DOID:0080809 | chronic asthma | | DOID:0080748 | chronic inducible urticaria | | DOID:0080749 | chronic spontaneous urticaria | | DOID:0081291 | chronic traumatic encephalopathy | | DOID:0080747 | chronic urticaria | -| DOID:0112253 | combined cellular and humoral immune defects with granulomas | | DOID:0112173 | combined deficiency of vitamin K-dependent clotting factors 1 | | DOID:0112174 | combined deficiency of vitamin K-dependent clotting factors 2 | | DOID:0081144 | common variable immunodeficiency 1 | @@ -290,14 +224,12 @@ | DOID:0081150 | common variable immunodeficiency 7 | | DOID:0081151 | common variable immunodeficiency 8 | | DOID:0111839 | congenital disorder of glycosylation Icc | -| DOID:0080574 | congenital disorder of glycosylation Iy | | DOID:0081015 | congenital fibrosis of the extraocular muscles 1 | | DOID:0081016 | congenital fibrosis of the extraocular muscles 2 | | DOID:0081017 | congenital fibrosis of the extraocular muscles 3A | | DOID:0081019 | congenital fibrosis of the extraocular muscles 3C | | DOID:0081020 | congenital fibrosis of the extraocular muscles 5 | | DOID:0112014 | congenital megabladder | -| DOID:0111836 | congenital nongoitrous hypothyroidism 7 | | DOID:0111835 | congenital nongoitrous hypothyroidism 9 | | DOID:0111790 | congenital nystagmus 1 | | DOID:0111792 | congenital nystagmus 2 | @@ -307,8 +239,6 @@ | DOID:0111791 | congenital nystagmus 7 | | DOID:0112242 | congenital symmetric circumferential skin creases 1 | | DOID:0112243 | congenital symmetric circumferential skin creases 2 | -| DOID:0081321 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | -| DOID:0081322 | contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B | | DOID:0080796 | core binding factor acute myeloid leukemia | | DOID:0081124 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 | | DOID:0081125 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | @@ -317,29 +247,7 @@ | DOID:0080925 | cytochrome P450 oxidoreductase deficiency | | DOID:0111576 | dehydrated hereditary stomatocytosis 1 | | DOID:0080773 | delta beta-thalassemia | -| DOID:0112203 | developmental and epileptic encephalopathy 67 | -| DOID:0112204 | developmental and epileptic encephalopathy 68 | -| DOID:0112205 | developmental and epileptic encephalopathy 69 | -| DOID:0112206 | developmental and epileptic encephalopathy 70 | -| DOID:0112207 | developmental and epileptic encephalopathy 71 | -| DOID:0112208 | developmental and epileptic encephalopathy 72 | -| DOID:0112209 | developmental and epileptic encephalopathy 73 | -| DOID:0112210 | developmental and epileptic encephalopathy 74 | -| DOID:0112211 | developmental and epileptic encephalopathy 75 | -| DOID:0112212 | developmental and epileptic encephalopathy 76 | | DOID:0112213 | developmental and epileptic encephalopathy 77 | -| DOID:0112214 | developmental and epileptic encephalopathy 78 | -| DOID:0112215 | developmental and epileptic encephalopathy 79 | -| DOID:0112216 | developmental and epileptic encephalopathy 80 | -| DOID:0112217 | developmental and epileptic encephalopathy 81 | -| DOID:0080715 | developmental and epileptic encephalopathy 82 | -| DOID:0112218 | developmental and epileptic encephalopathy 83 | -| DOID:0112219 | developmental and epileptic encephalopathy 84 | -| DOID:0112220 | developmental and epileptic encephalopathy 86 | -| DOID:0112221 | developmental and epileptic encephalopathy 87 | -| DOID:0112222 | developmental and epileptic encephalopathy 88 | -| DOID:0112275 | developmental and epileptic encephalopathy 93 | -| DOID:0081325 | developmental and epileptic encephalopathy 94 | | DOID:0081264 | developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome | | DOID:0081279 | diffuse astrocytoma, MYB- or MYBL1-altered | | DOID:0080880 | diffuse glioma, H3 G34 mutant | @@ -350,20 +258,10 @@ | DOID:0080684 | diffuse midline glioma, H3 K27M-mutant | | DOID:0081277 | diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | | DOID:0080578 | digenic disease | -| DOID:0111596 | distal arthrogryposis type 1 | | DOID:0112190 | distal arthrogryposis type 1C | -| DOID:0111605 | distal arthrogryposis type 2A | -| DOID:0111607 | distal arthrogryposis type 3 | -| DOID:0111610 | distal arthrogryposis type 4 | -| DOID:0111609 | distal arthrogryposis type 6 | -| DOID:0111203 | distal hereditary motor neuronopathy type 5 | -| DOID:0111189 | distal muscular dystrophy 3 | -| DOID:0111190 | distal muscular dystrophy 4 | -| DOID:0111214 | distal spinal muscular atrophy type 5 | | DOID:0060034 | dropped head syndrome | | DOID:0070310 | drug-induced hearing loss | | DOID:0080769 | early-onset vitamin B6-dependent epilepsy | -| DOID:0111664 | ectodermal dysplasia 1 | | DOID:0081286 | embryonal tumor with multilayered rosettes | | DOID:0080819 | environmental induced asthma | | DOID:0080511 | epidermolysis bullosa simplex generalized type | @@ -372,36 +270,28 @@ | DOID:0080916 | erythroleukemia | | DOID:0081295 | essential tremor 6 | | DOID:0080821 | exercise-induced bronchoconstriction | -| DOID:0081314 | extraventricular neurocytoma | | DOID:0080811 | extrinsic asthma | -| DOID:0111421 | familial apolipoprotein A5 deficiency | | DOID:0111729 | familial episodic pain syndrome 1 | | DOID:0111731 | familial episodic pain syndrome 3 | +| DOID:0081328 | familial hyperinsulinemic hypoglycemia 8 | | DOID:0112025 | female-restricted syndromic X-linked intellectual disability 99 | | DOID:0081043 | fetal akinesia deformation sequence syndrome X-linked | -| DOID:0111708 | focal nonepidermolytic palmoplantar keratoderma | | DOID:0111711 | focal nonepidermolytic palmoplantar keratoderma 2 | | DOID:0112245 | focal segmental glomerulosclerosis 3 | -| DOID:0081045 | frontonasal dysplasia 1 | -| DOID:0081046 | frontonasal dysplasia 2 | -| DOID:0081047 | frontonasal dysplasia 3 | | DOID:0080712 | gene duplication disease | -| DOID:0081031 | generalized lymphatic anomaly | | DOID:0080601 | germ cell benign neoplasm | -| DOID:0112252 | glutathione synthetase deficiency of erythrocytes | | DOID:0081034 | glutatione synthetase deficiency with 5-oxoprolinuria | +| DOID:0081329 | glycogen storage disease I | +| DOID:0081330 | glycogen storage disease Ib | +| DOID:0081331 | glycogen storage disease Ic | | DOID:0081308 | grade I lymphomatoid granulomatosis | | DOID:0081309 | grade II lymphomatoid granulomatosis | | DOID:0081310 | grade III lymphomatoid granulomatosis | -| DOID:0081267 | graft-versus-host disease | | DOID:0112007 | growth hormone secreting pituitary adenoma 2 | | DOID:3117 | hepatobiliary benign neoplasm | | DOID:0080939 | hereditary angioedema type I | | DOID:0080940 | hereditary angioedema type III | -| DOID:0080764 | hereditary diffuse gastric cancer | -| DOID:0070212 | hereditary lymphedema I | | DOID:0112348 | hereditary spastic paraplegia 78 | -| DOID:0112344 | hereditary spastic paraplegia 79 | | DOID:0112341 | hereditary spastic paraplegia 80 | | DOID:0112343 | hereditary spastic paraplegia 82 | | DOID:0112346 | hereditary spastic paraplegia 83 | @@ -409,49 +299,17 @@ | DOID:0112345 | hereditary spastic paraplegia 85 | | DOID:0112342 | hereditary spastic paraplegia 86 | | DOID:0081304 | high-grade astrocytoma with piloid features | -| DOID:0111278 | histiocytosis-lymphadenopathy plus syndrome | | DOID:0080879 | histone mutated tumor | -| DOID:0081104 | hot water epilepsy | | DOID:0081106 | hot water epilepsy 1 | | DOID:0081107 | hot water epilepsy 2 | | DOID:0080827 | human cytomegalovirus infection | | DOID:0080594 | hyper IgE recurrent infection syndrome 2 | -| DOID:0112263 | hypoinsulinemic hypoglycemia with hemihypertrophy | | DOID:0112153 | hypomyelinating leukodystrophy 20 | -| DOID:0111970 | immunodeficiency 10 | -| DOID:0111957 | immunodeficiency 11A | -| DOID:0111988 | immunodeficiency 12 | -| DOID:0111959 | immunodeficiency 15B | -| DOID:0111935 | immunodeficiency 16 | -| DOID:0111937 | immunodeficiency 22 | -| DOID:0111938 | immunodeficiency 24 | -| DOID:0111961 | immunodeficiency 26 | -| DOID:0111990 | immunodeficiency 30 | -| DOID:0111986 | immunodeficiency 32A | -| DOID:0112000 | immunodeficiency 34 | -| DOID:0111951 | immunodeficiency 40 | -| DOID:0111968 | immunodeficiency 41 | -| DOID:0111940 | immunodeficiency 42 | | DOID:0111981 | immunodeficiency 43 | -| DOID:0111948 | immunodeficiency 46 | -| DOID:0111943 | immunodeficiency 48 | -| DOID:0112001 | immunodeficiency 50 | -| DOID:0111967 | immunodeficiency 54 | -| DOID:0111993 | immunodeficiency 55 | | DOID:0111982 | immunodeficiency 56 | -| DOID:0111984 | immunodeficiency 58 | -| DOID:0111974 | immunodeficiency 59 | -| DOID:0111997 | immunodeficiency 63 | -| DOID:0112004 | immunodeficiency 71 | -| DOID:0112015 | immunodeficiency 72 | -| DOID:0111976 | immunodeficiency 9 | -| DOID:0080934 | immunoglobulin heavy chain amyloidosis | | DOID:0080935 | immunoglobulin heavy-and-light chain | -| DOID:0080933 | immunoglobulin light chain amyloidosis | | DOID:0081278 | infant-type hemispheric glioma | -| DOID:0080716 | infantile liver failure syndrome | | DOID:0081239 | injection anthrax | -| DOID:0081265 | intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | DOID:0081262 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | | DOID:0081301 | intellectual developmental disorder with ocular anomalies and distinctive facial features | | DOID:0080812 | intermittent asthma | @@ -468,18 +326,13 @@ | DOID:0080971 | intracranial berry aneurysm 8 | | DOID:0080972 | intracranial berry aneurysm 9 | | DOID:0080842 | intracranial meningioma | -| DOID:0081311 | intravascular large B-cell lymphoma | -| DOID:0081105 | keratosis palmoplantaris striata | | DOID:0081108 | keratosis palmoplantaris striata 1 | | DOID:0080752 | keratosis pilaris atrophicans faciei | | DOID:0080616 | kidney cortex disease | | DOID:0080846 | latent autoimmune diabetes in adults | -| DOID:0080492 | leukocyte adhesion deficiency 2 | | DOID:0080894 | lipofibromatosis-like neural tumor | -| DOID:0112230 | lissencephaly 5 | | DOID:0112236 | lissencephaly 6 | | DOID:0111815 | low molecular weight proteinuria with hypercalciuric nephrocalcinosis | -| DOID:0081307 | lymphomatoid granulomatosis | | DOID:60004 | malignant cystadenoma | | DOID:0081128 | mandibuloacral dysplasia type A lipodystrophy | | DOID:0081129 | mandibuloacral dysplasia type B lipodystrophy | @@ -500,12 +353,7 @@ | DOID:0111966 | monocyte, dendritic cell, and NK cell deficiency | | DOID:0080782 | mucinous pancreas adenocarcinoma | | DOID:0080678 | mucolipidosis III gamma | -| DOID:0080991 | multiminicore disease | | DOID:0081303 | multinodular and vacuolating neuronal tumor | -| DOID:0081317 | multiple synostoses syndrome 1 | -| DOID:0081318 | multiple synostoses syndrome 2 | -| DOID:0081319 | multiple synostoses syndrome 3 | -| DOID:0081320 | multiple synostoses syndrome 4 | | DOID:070355 | multisystem proteinopathy | | DOID:0112375 | muscular dystrophy-dystroglycanopathy type B | | DOID:0112377 | muscular dystrophy-dystroglycanopathy type B14 | @@ -513,24 +361,15 @@ | DOID:0112380 | muscular dystrophy-dystroglycanopathy type B2 | | DOID:0112378 | muscular dystrophy-dystroglycanopathy type B3 | | DOID:0112379 | muscular dystrophy-dystroglycanopathy type B4 | -| DOID:0112381 | muscular dystrophy-dystroglycanopathy type C12 | -| DOID:0112382 | muscular dystrophy-dystroglycanopathy type C8 | -| DOID:0112011 | mutilating palmoplantar keratoderma with periorificial keratotic plaques | | DOID:0080798 | myeloid leukemia associated with Down Syndrome | | DOID:0081285 | myxoid glioneuronal tumor | | DOID:0080823 | near-fatal asthma | | DOID:0070341 | neonatal-onset type II citrullinemia | | DOID:0081061 | nephrogenic diabetes insipidus type 2 | -| DOID:0081099 | neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies | | DOID:0081275 | neurodevelopmental disorder with eye movement abnormalities and ataxia | -| DOID:0081263 | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | DOID:0081324 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | -| DOID:0081327 | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | -| DOID:0081294 | neuronal intranuclear inclusion disease | | DOID:0080826 | nocturnal asthma | -| DOID:0080546 | non-alcoholic fatty liver | | DOID:0081014 | non-severe COVID-19 | -| DOID:0112038 | non-syndromic X-linked intellectual disability 1 | | DOID:0112040 | non-syndromic X-linked intellectual disability 100 | | DOID:0112048 | non-syndromic X-linked intellectual disability 101 | | DOID:0112020 | non-syndromic X-linked intellectual disability 103 | @@ -588,7 +427,6 @@ | DOID:0112070 | nuclear type mitochondrial complex I deficiency 18 | | DOID:0112085 | nuclear type mitochondrial complex I deficiency 19 | | DOID:0112083 | nuclear type mitochondrial complex I deficiency 2 | -| DOID:0112072 | nuclear type mitochondrial complex I deficiency 20 | | DOID:0112088 | nuclear type mitochondrial complex I deficiency 21 | | DOID:0112069 | nuclear type mitochondrial complex I deficiency 22 | | DOID:0112087 | nuclear type mitochondrial complex I deficiency 23 | @@ -611,44 +449,26 @@ | DOID:0112092 | nuclear type mitochondrial complex I deficiency 7 | | DOID:0112081 | nuclear type mitochondrial complex I deficiency 8 | | DOID:0112073 | nuclear type mitochondrial complex I deficiency 9 | -| DOID:0081296 | oculopharyngodistal myopathy | -| DOID:0081297 | oculopharyngodistal myopathy 1 | -| DOID:0081298 | oculopharyngodistal myopathy 2 | -| DOID:0081299 | oculopharyngodistal myopathy 3 | -| DOID:0081300 | oculopharyngodistal myopathy 4 | | DOID:0070311 | oligoasthenoteratozoospermia | | DOID:0081281 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 | | DOID:0081282 | oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 | -| DOID:0080844 | omodysplasia 1 | | DOID:0080845 | omodysplasia 2 | | DOID:0080900 | oral rhabdomyosarcoma | | DOID:0080407 | orofacial cleft 14 | | DOID:0111848 | osteogenesis imperfecta type 18 | | DOID:0111847 | osteogenesis imperfecta type 19 | | DOID:0111849 | osteogenesis imperfecta type 20 | -| DOID:0112201 | osteogenesis imperfecta type 21 | -| DOID:0070355 | overactive bladder syndrome | -| DOID:0081326 | oxoglutarate dehydrogenase deficiency | -| DOID:0081266 | pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | -| DOID:0111244 | palmoplantar keratoderma and congenital alopecia 1 | -| DOID:0081283 | papillary glioneuronal tumor | | DOID:0080841 | pemphigoid | -| DOID:0081274 | peroxisome biogenesis disorder 14B | | DOID:0081241 | peroxisome biogenesis disorder 3B | | DOID:0080813 | persistent mild asthma | | DOID:0080814 | persistent moderate asthma | | DOID:0080824 | persistent severe asthma | -| DOID:0111933 | phosphoglycerate kinase 1 deficiency | -| DOID:0081280 | pituicytoma | | DOID:0112009 | pituitary adenoma 1 | -| DOID:0112010 | pituitary adenoma 3 | -| DOID:0112008 | pituitary adenoma 5 | | DOID:0081244 | pituitary blastoma | | DOID:0080881 | pleomorphic xanthoastrocytoma BRAF mutant | | DOID:0080577 | polygenic disease | | DOID:0081305 | polymorphous low grade neuroepithelial tumour of the young | | DOID:0112324 | pontocerebellar hypoplasia type 11 | -| DOID:0112327 | pontocerebellar hypoplasia type 12 | | DOID:0112332 | pontocerebellar hypoplasia type 13 | | DOID:0112325 | pontocerebellar hypoplasia type 14 | | DOID:0112326 | pontocerebellar hypoplasia type 15 | @@ -672,11 +492,9 @@ | DOID:0111851 | primary ciliary dyskinesia 44 | | DOID:0111857 | primary ciliary dyskinesia 45 | | DOID:0112138 | primary coenzyme Q10 deficiency 9 | -| DOID:0081313 | primary diffuse large B-cell lymphoma of the central nervous system | | DOID:0081316 | primary intracranial sarcoma, DICER1-mutant | | DOID:0080930 | primary localized cutaneous amyloidosis 1 | | DOID:0080931 | primary localized cutaneous amyloidosis 2 | -| DOID:0080857 | primary ovarian insufficiency 1 | | DOID:0080867 | primary ovarian insufficiency 10 | | DOID:0080868 | primary ovarian insufficiency 11 | | DOID:0080869 | primary ovarian insufficiency 12 | @@ -685,8 +503,6 @@ | DOID:0080872 | primary ovarian insufficiency 15 | | DOID:0080873 | primary ovarian insufficiency 16 | | DOID:0080874 | primary ovarian insufficiency 17 | -| DOID:0112269 | primary ovarian insufficiency 18 | -| DOID:0112278 | primary ovarian insufficiency 19 | | DOID:0080858 | primary ovarian insufficiency 2A | | DOID:0080859 | primary ovarian insufficiency 2B | | DOID:0080860 | primary ovarian insufficiency 3 | @@ -696,33 +512,22 @@ | DOID:0080864 | primary ovarian insufficiency 7 | | DOID:0080865 | primary ovarian insufficiency 8 | | DOID:0080866 | primary ovarian insufficiency 9 | +| DOID:0081332 | progeroid syndrome | | DOID:0111452 | progressive myoclonus epilepsy 1A | -| DOID:0111444 | progressive myoclonus epilepsy 4 | -| DOID:0080719 | proximal myopathy and ophthalmoplegia | | DOID:0080787 | proximal symphalangism 1 | | DOID:0080788 | proximal symphalangism 2 | | DOID:60001 | pulmonary artery disease | -| DOID:0081268 | pulmonary venoocclusive disease 1 | -| DOID:0081269 | pulmonary venoocclusive disease 2 | | DOID:0080687 | reducing body myopathy 1B | +| DOID:0070369 | restrictive dermopathy 1 | +| DOID:0070370 | restrictive dermopathy 2 | | DOID:0080992 | rhabdomyolysis-myalgia syndrome | | DOID:0081243 | rhizomelic chondrodysplasia punctate type 4 | -| DOID:0081284 | rosette-forming glioneuronal tumor | -| DOID:0081293 | salivary gland mucoepidermoid carcinoma | | DOID:0081013 | severe COVID-19 | -| DOID:0111932 | severe congenital encephalopathy due to MECP2 mutation | | DOID:0112131 | severe congenital neutropenia 2 | -| DOID:0112133 | severe congenital neutropenia 3 | -| DOID:0112136 | severe congenital neutropenia 4 | -| DOID:0112132 | severe congenital neutropenia 5 | -| DOID:0112134 | severe congenital neutropenia 6 | -| DOID:0112129 | severe congenital neutropenia 7 | | DOID:0112135 | severe congenital neutropenia 8 | | DOID:0080306 | solid adenocarcinoma with mucin production | | DOID:0080897 | solitary fibrous tumor/hemangiopericytoma | -| DOID:0081100 | spastic paraplegia with deafness | | DOID:0112272 | spermatogenic failure 50 | -| DOID:0111156 | spermatogenic failure 9 | | DOID:0080667 | spinal muscular atrophy type 0 | | DOID:0070351 | spinal muscular atrophy with lower extremity predominant 1 | | DOID:0070349 | spinal muscular atrophy with lower extremity predominant 2A | @@ -737,43 +542,27 @@ | DOID:0112288 | spondyloepiphyseal dysplasia Nishimura type | | DOID:0112281 | spondyloepiphyseal dysplasia Stanescu type | | DOID:0112292 | spondyloepiphyseal dysplasia tarda with intellectual disability | -| DOID:0112287 | spondyloepiphyseal dysplasia-brachydactyly and distinctive speech | -| DOID:0112196 | spondylometaepiphyseal dysplasia, short limb-hand type | -| DOID:0112296 | spondylometaphyseal dysplasia Algerian type | | DOID:0112302 | spondylometaphyseal dysplasia East African type | | DOID:0112304 | spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | | DOID:0112298 | spondylometaphyseal dysplasia Sedaghatian type | | DOID:0112297 | spondylometaphyseal dysplasia corner fracture type | | DOID:0112301 | spondylometaphyseal dysplasia type A4 | -| DOID:0112305 | spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism | -| DOID:0112300 | spondylometaphyseal dysplasia with cone-rod dystrophy | | DOID:0080890 | supratentorial ependymoma | | DOID:0081253 | supratentorial ependymoma, YAP1 fusion–positive | | DOID:0081252 | supratentorial ependymoma, ZFTA fusion–positive | | DOID:0080843 | supratentorial meningioma | | DOID:0080985 | syndromic X-linked intellectual disorder Lujan-Fryns-type | -| DOID:0111812 | syndromic microphthalmia 10 | | DOID:0111804 | syndromic microphthalmia 11 | | DOID:0111800 | syndromic microphthalmia 12 | -| DOID:0111811 | syndromic microphthalmia 13 | -| DOID:0111809 | syndromic microphthalmia 2 | -| DOID:0111806 | syndromic microphthalmia 5 | -| DOID:0111805 | syndromic microphthalmia 6 | | DOID:0081246 | teratoma with somatic-type malignancy | | DOID:0080371 | testicular sex cord-stromal benign neoplasm | -| DOID:0112185 | thyroid dyshormonogenesis 1 | -| DOID:0080778 | transient infantile liver failure | | DOID:0081292 | traumatic brain injury | | DOID:0080995 | tuberculous encephalopathy | | DOID:0080686 | tubular aggregate myopathy 2 | -| DOID:0112180 | urocanase deficiency | | DOID:0080856 | vascular Parkinsonism | | DOID:0080886 | vitamin D-dependent rickets type 1A | | DOID:0080887 | vitamin D-dependent rickets type 1B | | DOID:0080884 | vitamin D-dependent rickets type 2A | | DOID:0080885 | vitamin D-dependent rickets type 2B | | DOID:0080665 | warfarin resistance | -| DOID:0080666 | warfarin sensitivity | -| DOID:0081287 | white sponge nevus 1 | -| DOID:0081288 | white sponge nevus 2 | -| DOID:0111820 | zygodactyly 1 | \ No newline at end of file +| DOID:0080666 | warfarin sensitivity | \ No newline at end of file diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 4845faae..ee8e4675 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -1,229 +1,69 @@ ## OMIM ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:--------------|:-----------------------------------------------------------------------------------------------------------------------| -| OMIM:619835 | 3-methylglutaconic aciduria, iia 7a | -| OMIM:619959 | acces syndrome | -| OMIM:619824 | agammaglobulinemia 8b, autosomal recessive | -| OMIM:619268 | alzahrani-kuwahara syndrome | -| OMIM:620285 | amyotrophic lateral sclerosis 27, juvenile | -| OMIM:619352 | ataxia, intention tremor, and hypotonia syndrome, childhood-onset | -| OMIM:620184 | atelis syndrome 1 | -| OMIM:620185 | atelis syndrome 2 | -| OMIM:606215 | atrioventricular septal defect | -| OMIM:619957 | attention deficit-hyperactivity disorder 8 | -| OMIM:619832 | auditory neuropathy, autosomal dominant 3 | -| OMIM:620076 | bent bone dysplasia syndrome 2 | -| OMIM:619481 | bile acid malabsorption, primary, 2 | -| OMIM:619534 | biliary, renal, neurologic, and skeletal syndrome | -| OMIM:619293 | blepharophimosis-impaired intellectual development syndrome | -| OMIM:620207 | blood group, er | -| OMIM:620044 | bone marrow failure and diabetes mellitus syndrome | -| OMIM:619543 | boudin-mortier syndrome | -| OMIM:619980 | braddock-carey syndrome 1 | -| OMIM:619981 | braddock-carey syndrome 2 | -| OMIM:620186 | branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | -| OMIM:619690 | brunet-wagner neurodevelopmental syndrome | -| OMIM:619314 | buratti-harel syndrome | -| OMIM:620067 | cardiac valvular dysplasia 2 | -| OMIM:619576 | cerebellar ataxia, brain abnormalities, and cardiac conduction defects | -| OMIM:619761 | cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | -| OMIM:619538 | cerebral cavernous malformations 4 | -| OMIM:619841 | chilton-okur-chung neurodevelopmental syndrome | -| OMIM:619504 | chopra-amiel-gordon syndrome | -| OMIM:619649 | chromosome 16q12 duplication syndrome | -| OMIM:619343 | chromosome 1p36 deletion syndrome, proximal | -| OMIM:301069 | chromosome xq13 duplication syndrome | -| OMIM:620099 | cleidocranial dysplasia 2 | -| OMIM:619714 | congenital disorder of glycosylation, iia iw, autosomal dominant | -| OMIM:619657 | congenital heart defects, multiple types, 8, with or without heterotaxy | -| OMIM:620294 | congenital heart defects, multiple types, 9 | -| OMIM:620249 | congenital myopathy 10b, mild variant | -| OMIM:619967 | congenital myopathy 11 | -| OMIM:620161 | congenital myopathy 15 | -| OMIM:620246 | congenital myopathy 18 | -| OMIM:620265 | congenital myopathy 2b, severe infantile, autosomal recessive | -| OMIM:620278 | congenital myopathy 2c, severe infantile, autosomal dominant | -| OMIM:619871 | corneal dystrophy, punctiform and polychromatic pre-descemet | -| OMIM:616994 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | -| OMIM:619727 | craniotubular dysplasia, ikegawa iia | -| OMIM:620280 | deafness, autosomal dominant 86 | -| OMIM:620281 | deafness, autosomal dominant 87 | -| OMIM:620283 | deafness, autosomal dominant 88 | -| OMIM:620284 | deafness, autosomal dominant 89 | -| OMIM:619354 | deafness, cataract, impaired intellectual development, and polyneuropathy | -| OMIM:619488 | degcags syndrome | -| OMIM:619613 | delayed puberty, self-limited | -| OMIM:619877 | dentici-novelli neurodevelopmental syndrome | -| OMIM:620240 | developmental delay with hypotonia, myopathy, and brain abnormalities | -| OMIM:619575 | developmental delay with or without intellectual impairment or behavioral abnormalities | -| OMIM:620098 | developmental delay with variable intellectual disability and dysmorphic facies | -| OMIM:619694 | developmental delay with variable neurologic and brain abnormalities | -| OMIM:620065 | developmental delay, behavioral abnormalities, and neuropsychiatric disorders | -| OMIM:620012 | developmental delay, hypotonia, and impaired language | -| OMIM:619595 | developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | -| OMIM:619475 | developmental delay, impaired speech, and behavioral abnormalities | -| OMIM:619964 | developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | -| OMIM:620141 | developmental delay, language impairment, and ocular abnormalities | -| OMIM:620025 | diaphragmatic hernia 4, with cardiovascular defects | -| OMIM:619955 | dworschak-punetha neurodevelopmental syndrome | -| OMIM:619345 | dysostosis multiplex, ain-naz iia | -| OMIM:619681 | dystonia, early-onset, and/or spastic paraplegia | -| OMIM:619817 | epidermolysis bullosa, junctional 6, with pyloric atresia | -| OMIM:301091 | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | -| OMIM:620058 | familial apolipoprotein gene cluster deletion syndrome | -| OMIM:620116 | fatty liver disease, protection from | -| OMIM:619376 | faundes-banka syndrome | -| OMIM:619699 | ferguson-bonni neurodevelopmental syndrome | -| OMIM:619602 | fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | -| OMIM:619329 | fibromuscular dysplasia, multifocal | -| OMIM:619985 | glycosylphosphatidylinositol biosynthesis defect 25 | -| OMIM:619321 | growth restriction, hypoplastic kidneys, alopecia, and distinctive facies | -| OMIM:619462 | hemolytic disease of fetus and newborn, rh-induced | -| OMIM:619641 | hengel-maroofian-schols syndrome | -| OMIM:619902 | hepatorenocardiac degenerative fibrosis | -| OMIM:619702 | heterotaxy, visceral, 12, autosomal | -| OMIM:619311 | hiatt-neu-cooper neurodevelopmental syndrome | -| OMIM:147060 | hyper-ige recurrent infection syndrome 1, autosomal dominant | -| OMIM:620085 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | -| OMIM:619324 | hypertriglyceridemia 2 | -| OMIM:619836 | hypoalphalipoproteinemia, primary, 2, intermediate | -| OMIM:619406 | hypokalemic tubulopathy and deafness | -| OMIM:619545 | hypoplastic femurs and pelvis | -| OMIM:620148 | ichthyosis, annular epidermolytic, 2 | -| OMIM:620282 | immunodeficiency 109 with lymphoproliferation | -| OMIM:620199 | inflammatory poikiloderma with hair abnormalities and acral keratoses | -| OMIM:620021 | intellectual developmental disorder with autism and dysmorphic facies | -| OMIM:619556 | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | -| OMIM:619911 | intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism | -| OMIM:620007 | intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | -| OMIM:620086 | intellectual developmental disorder with ocular anomalies and distinctive facial features | -| OMIM:619844 | intellectual developmental disorder with or without peripheral neuropathy | -| OMIM:619719 | intellectual disability and myopathy syndrome | -| OMIM:620045 | intestinal dysmotility syndrome | -| OMIM:620121 | iron overload, susceptibility to | -| OMIM:620232 | joint contractures, osteochondromas, and b-cell lymphoma | -| OMIM:620009 | keratoderma-ichthyosis-deafness syndrome, autosomal recessive | -| OMIM:619762 | kury-isidor syndrome | -| OMIM:620192 | lacrimoauriculodentodigital syndrome 2 | -| OMIM:620193 | lacrimoauriculodentodigital syndrome 3 | -| OMIM:619864 | leukodystrophy, childhood-onset, remitting | -| OMIM:620269 | leukodystrophy, hypomyelinating, 26, with chondrodysplasia | -| OMIM:619991 | liver disease, severe congenital | -| OMIM:619460 | luo-schoch-yamamoto syndrome | -| OMIM:619769 | macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | -| OMIM:619977 | macular dystrophy, retinal, 4 | -| OMIM:619290 | mahvash disease | -| OMIM:619680 | marbach-schaaf neurodevelopmental syndrome | -| OMIM:619355 | mitochondrial complex 4 deficiency, nuclear iia 22 | -| OMIM:620275 | mitochondrial complex 4 deficiency, nuclear iia 23 | -| OMIM:619518 | muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | -| OMIM:620166 | muscular dystrophy, congenital, with or without seizures | -| OMIM:620138 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | -| OMIM:619424 | myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | -| OMIM:620286 | myopathy, sarcoplasmic body | -| OMIM:619468 | nephronophthisis-like nephropathy 2 | -| OMIM:619869 | neurocardiofaciodigital syndrome | -| OMIM:620089 | neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | -| OMIM:619847 | neurodegeneration, childhood-onset, with progressive microcephaly | -| OMIM:620270 | neurodevelopmental disorder with absent speech and movement and behavioral abnormalities | -| OMIM:619797 | neurodevelopmental disorder with central hypotonia and dysmorphic facies | -| OMIM:619333 | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | -| OMIM:620083 | neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | -| OMIM:619306 | neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | -| OMIM:620210 | neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia | -| OMIM:620073 | neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | -| OMIM:619480 | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | -| OMIM:619922 | neurodevelopmental disorder with dystonia and seizures | -| OMIM:619971 | neurodevelopmental disorder with epilepsy and brain atrophy | -| OMIM:620094 | neurodevelopmental disorder with eye movement abnormalities and ataxia | -| OMIM:620075 | neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | -| OMIM:301094 | neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked | -| OMIM:620113 | neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities | -| OMIM:619616 | neurodevelopmental disorder with hearing loss and spasticity | -| OMIM:619651 | neurodevelopmental disorder with hyperkinetic movements and dyskinesia | -| OMIM:619512 | neurodevelopmental disorder with hypotonia and brain abnormalities | -| OMIM:619503 | neurodevelopmental disorder with hypotonia and dysmorphic facies | -| OMIM:619639 | neurodevelopmental disorder with hypotonia and gross motor and speech delay | -| OMIM:620224 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | -| OMIM:620191 | neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | -| OMIM:619383 | neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | -| OMIM:619854 | neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | -| OMIM:620029 | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | -| OMIM:619580 | neurodevelopmental disorder with impaired language and ataxia and with or without seizures | -| OMIM:619373 | neurodevelopmental disorder with infantile epileptic spasms | -| OMIM:619995 | neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | -| OMIM:620292 | neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | -| OMIM:619908 | neurodevelopmental disorder with language delay and seizures | -| OMIM:620066 | neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment | -| OMIM:620038 | neurodevelopmental disorder with microcephaly, hypotonia, and absent language | -| OMIM:619876 | neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | -| OMIM:620023 | neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | -| OMIM:619685 | neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | -| OMIM:620027 | neurodevelopmental disorder with microcephaly, short stature, and speech delay | -| OMIM:619470 | neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | -| OMIM:619833 | neurodevelopmental disorder with neuromuscular and skeletal abnormalities | -| OMIM:619725 | neurodevelopmental disorder with or without variable movement or behavioral abnormalities | -| OMIM:620242 | neurodevelopmental disorder with poor growth and behavioral abnormalities | -| OMIM:619880 | neurodevelopmental disorder with poor growth and skeletal anomalies | -| OMIM:620194 | neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | -| OMIM:620071 | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | -| OMIM:619517 | neurodevelopmental disorder with seizures and brain abnormalities | -| OMIM:619323 | neurodevelopmental disorder with seizures and gingival overgrowth | -| OMIM:620024 | neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | -| OMIM:620250 | neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | -| OMIM:619972 | neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | -| OMIM:620070 | neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | -| OMIM:619286 | neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | -| OMIM:620001 | neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | -| OMIM:619989 | neurodevelopmental disorder with speech delay and variable ocular anomalies | -| OMIM:620114 | neurodevelopmental disorder with speech impairment and with or without seizures | -| OMIM:619653 | neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | -| OMIM:619522 | neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | -| OMIM:620080 | neuronopathy, distal hereditary motor, iia 10 | -| OMIM:619539 | neuroocular syndrome | -| OMIM:620195 | obesity and hypopigmentation | -| OMIM:619356 | onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | -| OMIM:620154 | oocyte maturation defect 13 | -| OMIM:620276 | oocyte maturation defect 14 | -| OMIM:620107 | orofaciodigital syndrome 19 | -| OMIM:619377 | osteootohepatoenteric syndrome | -| OMIM:619884 | osteoporosis, childhood- or juvenile-onset, with developmental delay | -| OMIM:619873 | parenti-mignot neurodevelopmental syndrome | -| OMIM:619491 | parkinson disease 24, autosomal dominant, susceptibility to | -| OMIM:619903 | peripheral motor neuropathy, childhood-onset, biotin-responsive | -| OMIM:619859 | phosphoribosylaminoimidazole carboxylase deficiency | -| OMIM:620005 | primordial dwarfism-immunodeficiency-lipodystrophy syndrome | -| OMIM:620125 | pseudohypoaldosteronism, iia ib2, autosomal recessive | -| OMIM:620126 | pseudohypoaldosteronism, iia ib3, autosomal recessive | -| OMIM:606963 | pulmonary disease, chronic obstructive | -| OMIM:620155 | rabin-pappas syndrome | -| OMIM:619312 | radio-tartaglia syndrome | -| OMIM:619695 | rauch-steindl syndrome | -| OMIM:620233 | respiratory infections, recurrent, and failure to thrive with or without diarrhea | -| OMIM:619446 | retinal dystrophy and microvillus inclusion disease | -| OMIM:620235 | rhabdomyolysis, susceptibility to, 1 | -| OMIM:619598 | rhizomelic dysplasia, ain-naz iia | -| OMIM:181460 | schistosoma mansoni infection, susceptibility/resistance to | -| OMIM:620231 | short qt syndrome 7 | -| OMIM:619489 | short stature, dauber-argente iia | -| OMIM:619557 | short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies | -| OMIM:619464 | sick sinus syndrome 4 | -| OMIM:620277 | spermatogenic failure 81 | -| OMIM:301099 | spermatogenic failure, x-linked, 5 | -| OMIM:301101 | spermatogenic failure, x-linked, 6 | -| OMIM:620011 | spinal muscular atrophy, distal, autosomal recessive, 6 | -| OMIM:301080 | systemic lupus erythematosus 17 | -| OMIM:301071 | thrombophilia, x-linked, due to factor 8 defect | -| OMIM:619975 | tumor predisposition syndrome 2 | -| OMIM:619467 | usmani-riazuddin syndrome, autosomal dominant | -| OMIM:619548 | usmani-riazuddin syndrome, autosomal recessive | -| OMIM:619501 | ventriculomegaly and arthrogryposis | -| OMIM:619400 | visceral leiomyopathy, african degenerative | -| OMIM:619350 | visceral myopathy 2 | -| OMIM:619472 | viss syndrome | -| OMIM:619426 | white-kernohan syndrome | -| OMIM:619701 | yoon-bellen neurodevelopmental syndrome | -| OMIM:619648 | zaki syndrome | -| OMIMPS:117000 | | -| OMIMPS:267750 | | \ No newline at end of file +| subject_id | subject_label | +|:--------------|:----------------------------------------------------------------------------------------------------| +| OMIM:620184 | atelis syndrome 1 | +| OMIM:620185 | atelis syndrome 2 | +| OMIM:606215 | atrioventricular septal defect | +| OMIM:620076 | bent bone dysplasia syndrome 2 | +| OMIM:620207 | blood group, er | +| OMIM:619980 | braddock-carey syndrome 1 | +| OMIM:619981 | braddock-carey syndrome 2 | +| OMIM:620067 | cardiac valvular dysplasia 2 | +| OMIM:619538 | cerebral cavernous malformations 4 | +| OMIM:620099 | cleidocranial dysplasia 2 | +| OMIM:619657 | congenital heart defects, multiple types, 8, with or without heterotaxy | +| OMIM:620294 | congenital heart defects, multiple types, 9 | +| OMIM:620249 | congenital myopathy 10b, mild variant | +| OMIM:619967 | congenital myopathy 11 | +| OMIM:620161 | congenital myopathy 15 | +| OMIM:620246 | congenital myopathy 18 | +| OMIM:620265 | congenital myopathy 2b, severe infantile, autosomal recessive | +| OMIM:620278 | congenital myopathy 2c, severe infantile, autosomal dominant | +| OMIM:619871 | corneal dystrophy, punctiform and polychromatic pre-descemet | +| OMIM:616994 | craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 | +| OMIM:619727 | craniotubular dysplasia, ikegawa iia | +| OMIM:619613 | delayed puberty, self-limited | +| OMIM:620025 | diaphragmatic hernia 4, with cardiovascular defects | +| OMIM:619345 | dysostosis multiplex, ain-naz iia | +| OMIM:619817 | epidermolysis bullosa, junctional 6, with pyloric atresia | +| OMIM:301091 | epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | +| OMIM:620058 | familial apolipoprotein gene cluster deletion syndrome | +| OMIM:620116 | fatty liver disease, protection from | +| OMIM:619329 | fibromuscular dysplasia, multifocal | +| OMIM:619985 | glycosylphosphatidylinositol biosynthesis defect 25 | +| OMIM:619462 | hemolytic disease of fetus and newborn, rh-induced | +| OMIM:619902 | hepatorenocardiac degenerative fibrosis | +| OMIM:619702 | heterotaxy, visceral, 12, autosomal | +| OMIM:147060 | hyper-ige recurrent infection syndrome 1, autosomal dominant | +| OMIM:620085 | hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 | +| OMIM:619324 | hypertriglyceridemia 2 | +| OMIM:619836 | hypoalphalipoproteinemia, primary, 2, intermediate | +| OMIM:619406 | hypokalemic tubulopathy and deafness | +| OMIM:619545 | hypoplastic femurs and pelvis | +| OMIM:620148 | ichthyosis, annular epidermolytic, 2 | +| OMIM:620282 | immunodeficiency 109 with lymphoproliferation | +| OMIM:620199 | inflammatory poikiloderma with hair abnormalities and acral keratoses | +| OMIM:620021 | intellectual developmental disorder with autism and dysmorphic facies | +| OMIM:620045 | intestinal dysmotility syndrome | +| OMIM:620192 | lacrimoauriculodentodigital syndrome 2 | +| OMIM:620193 | lacrimoauriculodentodigital syndrome 3 | +| OMIM:619864 | leukodystrophy, childhood-onset, remitting | +| OMIM:620269 | leukodystrophy, hypomyelinating, 26, with chondrodysplasia | +| OMIM:619991 | liver disease, severe congenital | +| OMIM:619769 | macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | +| OMIM:619977 | macular dystrophy, retinal, 4 | +| OMIM:619290 | mahvash disease | +| OMIM:620166 | muscular dystrophy, congenital, with or without seizures | +| OMIM:620138 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | +| OMIM:160150 | myopathy, centronuclear, 1 | +| OMIM:606963 | pulmonary disease, chronic obstructive | +| OMIM:620233 | respiratory infections, recurrent, and failure to thrive with or without diarrhea | +| OMIM:619446 | retinal dystrophy and microvillus inclusion disease | +| OMIM:619598 | rhizomelic dysplasia, ain-naz iia | +| OMIM:181460 | schistosoma mansoni infection, susceptibility/resistance to | +| OMIM:301071 | thrombophilia, x-linked, due to factor 8 defect | +| OMIM:619501 | ventriculomegaly and arthrogryposis | +| OMIM:619400 | visceral leiomyopathy, african degenerative | +| OMIMPS:117000 | | +| OMIMPS:267750 | | \ No newline at end of file diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index 9eb92188..a7bd2ed5 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -17,6 +17,7 @@ # OMIMPS: https://omim.org/phenotypicSeries/PS # OMIT: http://purl.obolibrary.org/obo/ENVO_ # ORDO: http://www.orpha.net/ORDO/Orphanet_ +# SNOMEDCT_US_2023_02_28: http://identifiers.org/snomedct/ # SYMP: http://purl.obolibrary.org/obo/SYMP_ # UMLS_CUI: http://linkedlifedata.com/resource/umls/id/ # oboInOwl: http://www.geneontology.org/formats/oboInOwl# @@ -542,11 +543,11 @@ DOID:0050476 Barth syndrome oboInOwl:hasDbXref ICD10CM:E78.71 semapv:Unspecified DOID:0050476 Barth syndrome oboInOwl:hasDbXref GARD:5890 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome oboInOwl:hasDbXref MESH:D056889 semapv:UnspecifiedMatching DOID:0050476 Barth syndrome skos:exactMatch MESH:D056889 semapv:UnspecifiedMatching -DOID:0050477 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 semapv:UnspecifiedMatching -DOID:0050477 Liddle syndrome oboInOwl:hasDbXref NCI:C84827 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref UMLS_CUI:C0221043 semapv:UnspecifiedMatching -DOID:0050477 Liddle syndrome oboInOwl:hasDbXref GARD:7381 semapv:UnspecifiedMatching +DOID:0050477 Liddle syndrome oboInOwl:hasDbXref NCI:C84827 semapv:UnspecifiedMatching +DOID:0050477 Liddle syndrome oboInOwl:hasDbXref OMIM:177200 semapv:UnspecifiedMatching DOID:0050477 Liddle syndrome oboInOwl:hasDbXref MESH:D056929 semapv:UnspecifiedMatching +DOID:0050477 Liddle syndrome oboInOwl:hasDbXref GARD:7381 semapv:UnspecifiedMatching DOID:0050485 sennetsu fever oboInOwl:hasDbXref GARD:120 semapv:UnspecifiedMatching DOID:0050485 sennetsu fever oboInOwl:hasDbXref MESH:C537582 semapv:UnspecifiedMatching DOID:0050486 exanthem oboInOwl:hasDbXref ICD10CM:R21 semapv:UnspecifiedMatching @@ -672,9 +673,9 @@ DOID:0050569 Seckel syndrome oboInOwl:hasDbXref OMIMPS:210600 semapv:Unspecified DOID:0050570 congenital disorder of glycosylation type I oboInOwl:hasDbXref OMIMPS:212065 semapv:UnspecifiedMatching DOID:0050571 congenital disorder of glycosylation type II oboInOwl:hasDbXref OMIMPS:212066 semapv:UnspecifiedMatching DOID:0050571 congenital disorder of glycosylation type II oboInOwl:hasDbXref MESH:C535747 semapv:UnspecifiedMatching -DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref ORDO:1872 semapv:UnspecifiedMatching DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref GARD:10790 semapv:UnspecifiedMatching +DOID:0050572 cone-rod dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0050573 2-hydroxyglutaric aciduria oboInOwl:hasDbXref GARD:10761 semapv:UnspecifiedMatching DOID:0050573 2-hydroxyglutaric aciduria oboInOwl:hasDbXref MESH:C535306 semapv:UnspecifiedMatching DOID:0050574 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref GARD:10472 semapv:UnspecifiedMatching @@ -723,7 +724,6 @@ DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref OMIMPS:202700 sema DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref GARD:13592 semapv:UnspecifiedMatching DOID:0050590 severe congenital neutropenia oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:99798 semapv:UnspecifiedMatching -DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:2227 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIMPS:106600 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:610926 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:604625 semapv:UnspecifiedMatching @@ -736,9 +736,10 @@ DOID:0050591 tooth agenesis oboInOwl:hasDbXref ICD9CM:520.0 semapv:UnspecifiedMa DOID:0050591 tooth agenesis oboInOwl:hasDbXref ICD10CM:K00.0 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref UMLS_CUI:C0399352 semapv:UnspecifiedMatching DOID:0050591 tooth agenesis oboInOwl:hasDbXref OMIM:150400 semapv:UnspecifiedMatching +DOID:0050591 tooth agenesis oboInOwl:hasDbXref ORDO:2227 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref ORDO:474 semapv:UnspecifiedMatching -DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIMPS:208500 semapv:UnspecifiedMatching DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching +DOID:0050592 asphyxiating thoracic dystrophy oboInOwl:hasDbXref OMIMPS:208500 semapv:UnspecifiedMatching DOID:0050593 primary congenital glaucoma oboInOwl:hasDbXref OMIM:613085 semapv:UnspecifiedMatching DOID:0050593 primary congenital glaucoma oboInOwl:hasDbXref OMIM:613086 semapv:UnspecifiedMatching DOID:0050596 taeniasis oboInOwl:hasDbXref ICD10CM:B68.1 semapv:UnspecifiedMatching @@ -748,64 +749,64 @@ DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0276932 sem DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0036330 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0036329 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ORDO:1247 semapv:UnspecifiedMatching +DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35364 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35002 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref OMIM:181460 semapv:UnspecifiedMatching +DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35001 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref MESH:D012555 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref MESH:D012554 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD9CM:120.2 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD9CM:120.1 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD10CM:B65.2 semapv:UnspecifiedMatching DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref ICD10CM:B65.1 semapv:UnspecifiedMatching -DOID:0050597 intestinal schistosomiasis oboInOwl:hasDbXref NCI:C35001 semapv:UnspecifiedMatching DOID:0050600 ABCD syndrome oboInOwl:hasDbXref MESH:C535334 semapv:UnspecifiedMatching DOID:0050600 ABCD syndrome oboInOwl:hasDbXref OMIM:600501 semapv:UnspecifiedMatching -DOID:0050601 ADULT syndrome oboInOwl:hasDbXref OMIM:103285 semapv:UnspecifiedMatching DOID:0050601 ADULT syndrome oboInOwl:hasDbXref GARD:384 semapv:UnspecifiedMatching +DOID:0050601 ADULT syndrome oboInOwl:hasDbXref OMIM:103285 semapv:UnspecifiedMatching DOID:0050602 triple-A syndrome oboInOwl:hasDbXref GARD:457 semapv:UnspecifiedMatching DOID:0050602 triple-A syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching -DOID:0050603 acheiropody oboInOwl:hasDbXref GARD:376 semapv:UnspecifiedMatching DOID:0050603 acheiropody oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching +DOID:0050603 acheiropody oboInOwl:hasDbXref GARD:376 semapv:UnspecifiedMatching DOID:0050604 acrocapitofemoral dysplasia oboInOwl:hasDbXref GARD:10605 semapv:UnspecifiedMatching DOID:0050604 acrocapitofemoral dysplasia oboInOwl:hasDbXref MESH:C564334 semapv:UnspecifiedMatching DOID:0050604 acrocapitofemoral dysplasia oboInOwl:hasDbXref OMIM:607778 semapv:UnspecifiedMatching -DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 semapv:UnspecifiedMatching DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref GARD:5723 semapv:UnspecifiedMatching DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref MESH:C538178 semapv:UnspecifiedMatching +DOID:0050605 acrodermatitis enteropathica oboInOwl:hasDbXref OMIM:201100 semapv:UnspecifiedMatching DOID:0050606 acrokeratosis verruciformis oboInOwl:hasDbXref OMIM:101900 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref MESH:D010255 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6014 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6017 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6018 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335340 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335337 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335336 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0854995 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0280334 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6017 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6019 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C6014 semapv:UnspecifiedMatching +DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref MESH:D010255 semapv:UnspecifiedMatching DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref NCI:C8193 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0280334 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0854995 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335336 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335337 semapv:UnspecifiedMatching -DOID:0050619 paranasal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C1335340 semapv:UnspecifiedMatching DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref NCI:C4441 semapv:UnspecifiedMatching DOID:0050625 biliary tract benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345913 semapv:UnspecifiedMatching DOID:0050628 advanced sleep phase syndrome oboInOwl:hasDbXref ORDO:164736 semapv:UnspecifiedMatching DOID:0050628 advanced sleep phase syndrome oboInOwl:hasDbXref OMIMPS:604348 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref GARD:575 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref ICD10CM:G31.8 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:225750 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610181 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610329 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610333 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:612952 semapv:UnspecifiedMatching DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:615010 semapv:UnspecifiedMatching -DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:615846 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:612952 semapv:UnspecifiedMatching DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIMPS:225750 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:615846 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610333 semapv:UnspecifiedMatching DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref ORDO:51 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610181 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:225750 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref ICD10CM:G31.8 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref GARD:575 semapv:UnspecifiedMatching +DOID:0050629 Aicardi-Goutieres syndrome oboInOwl:hasDbXref OMIM:610329 semapv:UnspecifiedMatching +DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref OMIM:300600 semapv:UnspecifiedMatching DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref MESH:C562664 semapv:UnspecifiedMatching DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref GARD:10574 semapv:UnspecifiedMatching -DOID:0050630 Aland Island eye disease oboInOwl:hasDbXref OMIM:300600 semapv:UnspecifiedMatching -DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ORDO:59 semapv:UnspecifiedMatching -DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref GARD:5617 semapv:UnspecifiedMatching DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref MESH:C537047 semapv:UnspecifiedMatching +DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref OMIM:300523 semapv:UnspecifiedMatching +DOID:0050631 Allan-Herndon-Dudley syndrome oboInOwl:hasDbXref ORDO:59 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref GARD:10958 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref MESH:D016115 semapv:UnspecifiedMatching @@ -813,24 +814,24 @@ DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref OMIMPS:203100 semapv:Uns DOID:0050632 oculocutaneous albinism oboInOwl:hasDbXref ORDO:55 semapv:UnspecifiedMatching DOID:0050633 ocular albinism oboInOwl:hasDbXref MESH:D016117 semapv:UnspecifiedMatching DOID:0050633 ocular albinism oboInOwl:hasDbXref OMIM:300500 semapv:UnspecifiedMatching -DOID:0050634 alopecia universalis oboInOwl:hasDbXref GARD:614 semapv:UnspecifiedMatching DOID:0050634 alopecia universalis oboInOwl:hasDbXref MESH:C537055 semapv:UnspecifiedMatching DOID:0050634 alopecia universalis oboInOwl:hasDbXref OMIM:203655 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref ORDO:2131 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIMPS:104290 semapv:UnspecifiedMatching -DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10CM:G98 semapv:UnspecifiedMatching +DOID:0050634 alopecia universalis oboInOwl:hasDbXref GARD:614 semapv:UnspecifiedMatching DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref GARD:11 semapv:UnspecifiedMatching +DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref ICD10CM:G98 semapv:UnspecifiedMatching DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref MESH:C536589 semapv:UnspecifiedMatching +DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:104290 semapv:UnspecifiedMatching +DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIM:614820 semapv:UnspecifiedMatching +DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref OMIMPS:104290 semapv:UnspecifiedMatching +DOID:0050635 alternating hemiplegia of childhood oboInOwl:hasDbXref ORDO:2131 semapv:UnspecifiedMatching DOID:0050636 familial visceral amyloidosis oboInOwl:hasDbXref GARD:8282 semapv:UnspecifiedMatching DOID:0050636 familial visceral amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching DOID:0050636 familial visceral amyloidosis oboInOwl:hasDbXref ORDO:85450 semapv:UnspecifiedMatching +DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref ORDO:85448 semapv:UnspecifiedMatching DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref GARD:2339 semapv:UnspecifiedMatching DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref OMIM:105120 semapv:UnspecifiedMatching -DOID:0050637 Finnish type amyloidosis oboInOwl:hasDbXref ORDO:85448 semapv:UnspecifiedMatching -DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref ORDO:85447 semapv:UnspecifiedMatching DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching +DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref ORDO:85447 semapv:UnspecifiedMatching DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref GARD:656 semapv:UnspecifiedMatching DOID:0050638 transthyretin amyloidosis oboInOwl:hasDbXref ICD10CM:E85.82 semapv:UnspecifiedMatching DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref GARD:132 semapv:UnspecifiedMatching @@ -838,101 +839,100 @@ DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref OMIMPS:105250 sema DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref ORDO:137807 semapv:UnspecifiedMatching DOID:0050639 primary cutaneous amyloidosis oboInOwl:hasDbXref ORDO:353220 semapv:UnspecifiedMatching DOID:0050640 anauxetic dysplasia 1 oboInOwl:hasDbXref OMIM:607095 semapv:UnspecifiedMatching +DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref GARD:12916 semapv:UnspecifiedMatching DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref MESH:C562717 semapv:UnspecifiedMatching DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref OMIM:268150 semapv:UnspecifiedMatching -DOID:0050641 Rh deficiency syndrome oboInOwl:hasDbXref GARD:12916 semapv:UnspecifiedMatching DOID:0050642 hypochromic microcytic anemia oboInOwl:hasDbXref OMIM:206100 semapv:UnspecifiedMatching DOID:0050642 hypochromic microcytic anemia oboInOwl:hasDbXref OMIM:615234 semapv:UnspecifiedMatching -DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref GARD:8380 semapv:UnspecifiedMatching -DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 semapv:UnspecifiedMatching -DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 semapv:UnspecifiedMatching +DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref ORDO:51608 semapv:UnspecifiedMatching -DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref OMIM:208050 semapv:UnspecifiedMatching +DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref GARD:8380 semapv:UnspecifiedMatching +DOID:0050644 arterial calcification of infancy oboInOwl:hasDbXref MESH:C537440 semapv:UnspecifiedMatching DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref GARD:774 semapv:UnspecifiedMatching DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref MESH:C565942 semapv:UnspecifiedMatching +DOID:0050645 arterial tortuosity syndrome oboInOwl:hasDbXref OMIM:208050 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref GARD:786 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref OMIMPS:108120 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref ORDO:1147 semapv:UnspecifiedMatching DOID:0050646 distal arthrogryposis oboInOwl:hasDbXref ORDO:97120 semapv:UnspecifiedMatching -DOID:0050647 Arts syndrome oboInOwl:hasDbXref ORDO:1187 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref UMLS_CUI:C0796028 semapv:UnspecifiedMatching -DOID:0050647 Arts syndrome oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching +DOID:0050647 Arts syndrome oboInOwl:hasDbXref ORDO:1187 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref GARD:8756 semapv:UnspecifiedMatching DOID:0050647 Arts syndrome oboInOwl:hasDbXref MESH:C535388 semapv:UnspecifiedMatching +DOID:0050647 Arts syndrome oboInOwl:hasDbXref OMIM:301835 semapv:UnspecifiedMatching DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:108720 semapv:UnspecifiedMatching DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:108721 semapv:UnspecifiedMatching DOID:0050648 atelosteogenesis oboInOwl:hasDbXref OMIM:256050 semapv:UnspecifiedMatching -DOID:0050649 atransferrinemia oboInOwl:hasDbXref GARD:9595 semapv:UnspecifiedMatching -DOID:0050649 atransferrinemia oboInOwl:hasDbXref NCI:C125693 semapv:UnspecifiedMatching -DOID:0050649 atransferrinemia oboInOwl:hasDbXref OMIM:209300 semapv:UnspecifiedMatching DOID:0050649 atransferrinemia oboInOwl:hasDbXref ORDO:1195 semapv:UnspecifiedMatching +DOID:0050649 atransferrinemia oboInOwl:hasDbXref OMIM:209300 semapv:UnspecifiedMatching +DOID:0050649 atransferrinemia oboInOwl:hasDbXref NCI:C125693 semapv:UnspecifiedMatching +DOID:0050649 atransferrinemia oboInOwl:hasDbXref GARD:9595 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref ORDO:334 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIMPS:608583 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615770 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615378 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:614050 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:614049 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615377 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:614022 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615770 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIMPS:608583 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref ORDO:334 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615378 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:613980 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:615377 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:612240 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:612201 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:611494 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:611493 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:608988 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:608583 semapv:UnspecifiedMatching -DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:613055 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:607554 semapv:UnspecifiedMatching DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref GARD:9740 semapv:UnspecifiedMatching +DOID:0050650 familial atrial fibrillation oboInOwl:hasDbXref OMIM:613055 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref UMLS_CUI:C0014116 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ORDO:98722 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:614474 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:606215 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:614430 semapv:UnspecifiedMatching +DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref GARD:802 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref MESH:D004694 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ICD9CM:745.6 semapv:UnspecifiedMatching DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref ICD10CM:Q21.2 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref GARD:802 semapv:UnspecifiedMatching -DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:600309 semapv:UnspecifiedMatching +DOID:0050651 atrioventricular septal defect oboInOwl:hasDbXref OMIM:606215 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref UMLS_CUI:C0265308 semapv:UnspecifiedMatching -DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref ORDO:1223 semapv:UnspecifiedMatching -DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref GARD:1602 semapv:UnspecifiedMatching +DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref OMIM:218600 semapv:UnspecifiedMatching DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref MESH:C536788 semapv:UnspecifiedMatching +DOID:0050654 Baller-Gerold syndrome oboInOwl:hasDbXref GARD:1602 semapv:UnspecifiedMatching DOID:0050655 Bamforth-Lazarus syndrome oboInOwl:hasDbXref OMIM:241850 semapv:UnspecifiedMatching DOID:0050656 pseudo-TORCH syndrome 1 oboInOwl:hasDbXref GARD:12426 semapv:UnspecifiedMatching DOID:0050656 pseudo-TORCH syndrome 1 oboInOwl:hasDbXref OMIM:251290 semapv:UnspecifiedMatching DOID:0050656 pseudo-TORCH syndrome 1 oboInOwl:hasDbXref ORDO:1229 semapv:UnspecifiedMatching -DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching -DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ORDO:109 semapv:UnspecifiedMatching -DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref NCI:C3939 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref GARD:5887 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref MESH:D006223 semapv:UnspecifiedMatching +DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref NCI:C3939 semapv:UnspecifiedMatching +DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref OMIM:158350 semapv:UnspecifiedMatching +DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome oboInOwl:hasDbXref ORDO:109 semapv:UnspecifiedMatching DOID:0050658 Bart-Pumphrey syndrome oboInOwl:hasDbXref OMIM:149200 semapv:UnspecifiedMatching DOID:0050659 biotin-responsive basal ganglia disease oboInOwl:hasDbXref MESH:C537658 semapv:UnspecifiedMatching DOID:0050659 biotin-responsive basal ganglia disease oboInOwl:hasDbXref OMIM:607483 semapv:UnspecifiedMatching -DOID:0050660 Beare-Stevenson cutis gyrata syndrome oboInOwl:hasDbXref GARD:332 semapv:UnspecifiedMatching DOID:0050660 Beare-Stevenson cutis gyrata syndrome oboInOwl:hasDbXref OMIM:123790 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ORDO:99000 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ORDO:1243 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:616152 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:616151 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:608161 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref MESH:D057826 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref GARD:182 semapv:UnspecifiedMatching +DOID:0050660 Beare-Stevenson cutis gyrata syndrome oboInOwl:hasDbXref GARD:332 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref GARD:10120 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref GARD:182 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref MESH:D057826 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153840 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:608161 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:616151 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:616152 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ORDO:1243 semapv:UnspecifiedMatching +DOID:0050661 vitelliform macular dystrophy oboInOwl:hasDbXref ORDO:99000 semapv:UnspecifiedMatching DOID:0050662 bestrophinopathy oboInOwl:hasDbXref MESH:C567518 semapv:UnspecifiedMatching DOID:0050662 bestrophinopathy oboInOwl:hasDbXref OMIM:611809 semapv:UnspecifiedMatching DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching -DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref GARD:873 semapv:UnspecifiedMatching DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref MESH:C535436 semapv:UnspecifiedMatching -DOID:0050664 Bietti crystalline corneoretinal dystrophy oboInOwl:hasDbXref OMIM:210370 semapv:UnspecifiedMatching +DOID:0050663 Bethlem myopathy oboInOwl:hasDbXref GARD:873 semapv:UnspecifiedMatching DOID:0050664 Bietti crystalline corneoretinal dystrophy oboInOwl:hasDbXref GARD:10050 semapv:UnspecifiedMatching +DOID:0050664 Bietti crystalline corneoretinal dystrophy oboInOwl:hasDbXref OMIM:210370 semapv:UnspecifiedMatching DOID:0050665 fetal alcohol syndrome oboInOwl:hasDbXref ICD10CM:Q86.0 semapv:UnspecifiedMatching DOID:0050670 ataxic cerebral palsy oboInOwl:hasDbXref GARD:10451 semapv:UnspecifiedMatching DOID:0050670 ataxic cerebral palsy oboInOwl:hasDbXref OMIM:605388 semapv:UnspecifiedMatching @@ -944,28 +944,28 @@ DOID:0050675 Birk-Barel syndrome oboInOwl:hasDbXref OMIM:612292 semapv:Unspecifi DOID:0050676 Birt-Hogg-Dube syndrome oboInOwl:hasDbXref GARD:2322 semapv:UnspecifiedMatching DOID:0050676 Birt-Hogg-Dube syndrome oboInOwl:hasDbXref MESH:D058249 semapv:UnspecifiedMatching DOID:0050676 Birt-Hogg-Dube syndrome oboInOwl:hasDbXref OMIM:135150 semapv:UnspecifiedMatching -DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref ORDO:123 semapv:UnspecifiedMatching -DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref OMIM:262000 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref UMLS_CUI:C0266006 semapv:UnspecifiedMatching -DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref GARD:22 semapv:UnspecifiedMatching +DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref ORDO:123 semapv:UnspecifiedMatching DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref MESH:C537633 semapv:UnspecifiedMatching +DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref GARD:22 semapv:UnspecifiedMatching +DOID:0050677 Bjornstad syndrome oboInOwl:hasDbXref OMIM:262000 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref GARD:304 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref MESH:C538157 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref NCI:C116794 semapv:UnspecifiedMatching DOID:0050678 Blau syndrome oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching DOID:0050679 blue cone monochromacy oboInOwl:hasDbXref GARD:917 semapv:UnspecifiedMatching DOID:0050679 blue cone monochromacy oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching -DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 semapv:UnspecifiedMatching DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref GARD:933 semapv:UnspecifiedMatching DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref MESH:C536573 semapv:UnspecifiedMatching +DOID:0050680 Boomerang dysplasia oboInOwl:hasDbXref OMIM:112310 semapv:UnspecifiedMatching +DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ORDO:127 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0265339 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref GARD:936 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MESH:C536575 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref NCI:C157122 semapv:UnspecifiedMatching DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref OMIM:301900 semapv:UnspecifiedMatching -DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref ORDO:127 semapv:UnspecifiedMatching -DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ORDO:69739 semapv:UnspecifiedMatching +DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref NCI:C157122 semapv:UnspecifiedMatching +DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref MESH:C536575 semapv:UnspecifiedMatching +DOID:0050681 Borjeson-Forssman-Lehmann syndrome oboInOwl:hasDbXref GARD:936 semapv:UnspecifiedMatching DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching +DOID:0050682 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ORDO:69739 semapv:UnspecifiedMatching DOID:0050683 Bothnia retinal dystrophy oboInOwl:hasDbXref MESH:C564392 semapv:UnspecifiedMatching DOID:0050683 Bothnia retinal dystrophy oboInOwl:hasDbXref OMIM:607475 semapv:UnspecifiedMatching DOID:0050684 Bowen-Conradi syndrome oboInOwl:hasDbXref GARD:5950 semapv:UnspecifiedMatching @@ -979,51 +979,51 @@ DOID:0050685 small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334239 semapv:Un DOID:0050686 organ system cancer oboInOwl:hasDbXref MESH:D009371 semapv:UnspecifiedMatching DOID:0050689 brachydactyly-syndactyly syndrome oboInOwl:hasDbXref MESH:C565193 semapv:UnspecifiedMatching DOID:0050689 brachydactyly-syndactyly syndrome oboInOwl:hasDbXref OMIM:610713 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref ORDO:1293 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching +DOID:0050690 brachyolmia oboInOwl:hasDbXref GARD:10903 semapv:UnspecifiedMatching DOID:0050690 brachyolmia oboInOwl:hasDbXref MESH:C537098 semapv:UnspecifiedMatching DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:113500 semapv:UnspecifiedMatching -DOID:0050690 brachyolmia oboInOwl:hasDbXref GARD:10903 semapv:UnspecifiedMatching DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching +DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching +DOID:0050690 brachyolmia oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching +DOID:0050690 brachyolmia oboInOwl:hasDbXref ORDO:1293 semapv:UnspecifiedMatching DOID:0050691 branchiooculofacial syndrome oboInOwl:hasDbXref GARD:3212 semapv:UnspecifiedMatching DOID:0050691 branchiooculofacial syndrome oboInOwl:hasDbXref OMIM:113620 semapv:UnspecifiedMatching DOID:0050692 Brody myopathy oboInOwl:hasDbXref GARD:9158 semapv:UnspecifiedMatching DOID:0050692 Brody myopathy oboInOwl:hasDbXref MESH:C536607 semapv:UnspecifiedMatching DOID:0050692 Brody myopathy oboInOwl:hasDbXref OMIM:601003 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref UMLS_CUI:C1857941 semapv:UnspecifiedMatching -DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref GARD:10179 semapv:UnspecifiedMatching -DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref ORDO:79493 semapv:UnspecifiedMatching -DOID:0050694 Brown-Vialetto-Van Laere syndrome skos:exactMatch MESH:C537111 semapv:UnspecifiedMatching +DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref OMIM:605041 semapv:UnspecifiedMatching +DOID:0050693 Brooke-Spiegler syndrome oboInOwl:hasDbXref GARD:10179 semapv:UnspecifiedMatching DOID:0050694 Brown-Vialetto-Van Laere syndrome oboInOwl:hasDbXref MESH:C537111 semapv:UnspecifiedMatching DOID:0050694 Brown-Vialetto-Van Laere syndrome oboInOwl:hasDbXref OMIMPS:211530 semapv:UnspecifiedMatching +DOID:0050694 Brown-Vialetto-Van Laere syndrome skos:exactMatch MESH:C537111 semapv:UnspecifiedMatching DOID:0050697 chorioamnionitis oboInOwl:hasDbXref MESH:D002821 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C1848336 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C1845167 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C0878681 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref ORDO:1652 semapv:UnspecifiedMatching -DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching +DOID:0050699 Dent disease oboInOwl:hasDbXref OMIM:300009 semapv:UnspecifiedMatching +DOID:0050699 Dent disease oboInOwl:hasDbXref UMLS_CUI:C1845167 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref MESH:D057973 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref MESH:C564487 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref MESH:C538212 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref GARD:13105 semapv:UnspecifiedMatching DOID:0050699 Dent disease oboInOwl:hasDbXref NCI:C123260 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0033141 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0878544 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0036529 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0033141 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref NCI:C53654 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref MESH:D009202 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref NCI:C34830 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.9 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD9CM:425 semapv:UnspecifiedMatching DOID:0050700 cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42 semapv:UnspecifiedMatching -DOID:0050700 cardiomyopathy oboInOwl:hasDbXref NCI:C34830 semapv:UnspecifiedMatching +DOID:0050700 cardiomyopathy oboInOwl:hasDbXref MESH:D009202 semapv:UnspecifiedMatching DOID:0050709 early infantile epileptic encephalopathy oboInOwl:hasDbXref GARD:9255 semapv:UnspecifiedMatching DOID:0050709 early infantile epileptic encephalopathy oboInOwl:hasDbXref ORDO:1934 semapv:UnspecifiedMatching +DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ORDO:6 semapv:UnspecifiedMatching DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref GARD:10954 semapv:UnspecifiedMatching DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref OMIMPS:210200 semapv:UnspecifiedMatching -DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency oboInOwl:hasDbXref ORDO:6 semapv:UnspecifiedMatching DOID:0050711 aceruloplasminemia oboInOwl:hasDbXref OMIM:604290 semapv:UnspecifiedMatching DOID:0050711 aceruloplasminemia oboInOwl:hasDbXref GARD:9499 semapv:UnspecifiedMatching DOID:0050712 AGAT deficiency oboInOwl:hasDbXref OMIM:612718 semapv:UnspecifiedMatching @@ -1041,8 +1041,8 @@ DOID:0050725 tyrosinemia type II oboInOwl:hasDbXref OMIM:276600 semapv:Unspecifi DOID:0050726 tyrosinemia type I oboInOwl:hasDbXref OMIM:276700 semapv:UnspecifiedMatching DOID:0050727 tyrosinemia type III oboInOwl:hasDbXref OMIM:276710 semapv:UnspecifiedMatching DOID:0050729 neutral lipid storage disease oboInOwl:hasDbXref OMIM:275630 semapv:UnspecifiedMatching -DOID:0050730 coenzyme Q10 deficiency disease oboInOwl:hasDbXref OMIMPS:607426 semapv:UnspecifiedMatching DOID:0050730 coenzyme Q10 deficiency disease oboInOwl:hasDbXref GARD:10423 semapv:UnspecifiedMatching +DOID:0050730 coenzyme Q10 deficiency disease oboInOwl:hasDbXref OMIMPS:607426 semapv:UnspecifiedMatching DOID:0050731 vitamin B12 deficiency oboInOwl:hasDbXref MESH:D014806 semapv:UnspecifiedMatching DOID:0050734 congenital intrinsic factor deficiency oboInOwl:hasDbXref OMIM:261000 semapv:UnspecifiedMatching DOID:0050740 Qazi Markouizos syndrome oboInOwl:hasDbXref GARD:371 semapv:UnspecifiedMatching @@ -1724,7 +1724,7 @@ DOID:0060201 amyotrophic lateral sclerosis type 10 oboInOwl:hasDbXref OMIM:61206 DOID:0060202 amyotrophic lateral sclerosis type 11 oboInOwl:hasDbXref GARD:10496 semapv:UnspecifiedMatching DOID:0060202 amyotrophic lateral sclerosis type 11 oboInOwl:hasDbXref OMIM:612577 semapv:UnspecifiedMatching DOID:0060203 amyotrophic lateral sclerosis type 12 oboInOwl:hasDbXref OMIM:613435 semapv:UnspecifiedMatching -DOID:0060205 amyotrophic lateral sclerosis type 14 oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching +DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 oboInOwl:hasDbXref OMIM:613954 semapv:UnspecifiedMatching DOID:0060206 amyotrophic lateral sclerosis type 15 oboInOwl:hasDbXref OMIM:300857 semapv:UnspecifiedMatching DOID:0060207 amyotrophic lateral sclerosis type 16 oboInOwl:hasDbXref OMIM:614373 semapv:UnspecifiedMatching DOID:0060209 amyotrophic lateral sclerosis type 18 oboInOwl:hasDbXref OMIM:614808 semapv:UnspecifiedMatching @@ -1888,10 +1888,10 @@ DOID:0060243 stuttering oboInOwl:hasDbXref UMLS_CUI:C0751527 semapv:UnspecifiedM DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614655 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:609261 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:184450 semapv:UnspecifiedMatching -DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614668 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref NCI:C35043 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref MESH:D013342 semapv:UnspecifiedMatching DOID:0060243 stuttering oboInOwl:hasDbXref ICD10CM:F80.81 semapv:UnspecifiedMatching +DOID:0060243 stuttering oboInOwl:hasDbXref OMIM:614668 semapv:UnspecifiedMatching DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:606711 semapv:UnspecifiedMatching DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:606712 semapv:UnspecifiedMatching DOID:0060244 specific language impairment oboInOwl:hasDbXref OMIM:607134 semapv:UnspecifiedMatching @@ -1912,12 +1912,12 @@ DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref MESH:C564589 semapv:Unspe DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref OMIMPS:607326 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref ORDO:178355 semapv:UnspecifiedMatching DOID:0060247 Smith-McCort dysplasia oboInOwl:hasDbXref UMLS_CUI:C1846431 semapv:UnspecifiedMatching -DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref ORDO:373 semapv:UnspecifiedMatching -DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C0796154 semapv:UnspecifiedMatching +DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching +DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref ORDO:373 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref MESH:C537340 semapv:UnspecifiedMatching -DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref GARD:7649 semapv:UnspecifiedMatching DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref NCI:C118787 semapv:UnspecifiedMatching +DOID:0060248 Simpson-Golabi-Behmel syndrome type 1 oboInOwl:hasDbXref GARD:7649 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref ICD10CM:M41.9 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref MESH:D012600 semapv:UnspecifiedMatching DOID:0060249 scoliosis oboInOwl:hasDbXref NCI:C78603 semapv:UnspecifiedMatching @@ -1932,18 +1932,17 @@ DOID:0060251 sclerosteosis oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatchi DOID:0060251 sclerosteosis oboInOwl:hasDbXref UMLS_CUI:C0265301 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref UMLS_CUI:C1853235 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref ORDO:91490 semapv:UnspecifiedMatching -DOID:0060252 sclerocornea oboInOwl:hasDbXref MESH:C565209 semapv:UnspecifiedMatching DOID:0060252 sclerocornea oboInOwl:hasDbXref OMIM:181700 semapv:UnspecifiedMatching +DOID:0060252 sclerocornea oboInOwl:hasDbXref MESH:C565209 semapv:UnspecifiedMatching DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref MESH:C536624 semapv:UnspecifiedMatching -DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref OMIM:181430 semapv:UnspecifiedMatching DOID:0060253 scapuloperoneal myopathy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref UMLS_CUI:C0265205 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref OMIMPS:268310 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref NCI:C85048 semapv:UnspecifiedMatching -DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref GARD:312 semapv:UnspecifiedMatching +DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:0060254 Robinow syndrome oboInOwl:hasDbXref MESH:C562492 semapv:UnspecifiedMatching +DOID:0060254 Robinow syndrome oboInOwl:hasDbXref NCI:C85048 semapv:UnspecifiedMatching +DOID:0060254 Robinow syndrome oboInOwl:hasDbXref OMIMPS:268310 semapv:UnspecifiedMatching +DOID:0060254 Robinow syndrome oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching +DOID:0060254 Robinow syndrome oboInOwl:hasDbXref UMLS_CUI:C0265205 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref UMLS_CUI:C1853698 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref GARD:9164 semapv:UnspecifiedMatching DOID:0060255 rippling muscle disease 2 oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching @@ -2084,12 +2083,12 @@ DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C00 DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ORDO:447 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C0086774 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref UMLS_CUI:C0024790 semapv:UnspecifiedMatching +DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:615399 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10CM:D59.5 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref NCI:C61233 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref MESH:D006457 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10CM:D59.6 semapv:UnspecifiedMatching -DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref OMIM:300818 semapv:UnspecifiedMatching +DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref ICD10CM:D59.5 semapv:UnspecifiedMatching DOID:0060284 paroxysmal nocturnal hemoglobinuria oboInOwl:hasDbXref GARD:7337 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref MESH:C566826 semapv:UnspecifiedMatching DOID:0060285 parietal foramina oboInOwl:hasDbXref OMIM:168500 semapv:UnspecifiedMatching @@ -2342,9 +2341,9 @@ DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or ment DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268120 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C3665382 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 semapv:UnspecifiedMatching -DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:546 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MESH:C538228 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref NCI:C121564 semapv:UnspecifiedMatching +DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:546 semapv:UnspecifiedMatching DOID:0060350 adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref GARD:10666 semapv:UnspecifiedMatching DOID:0060351 mitochondrial complex III deficiency nuclear type 2 oboInOwl:hasDbXref OMIM:615157 semapv:UnspecifiedMatching DOID:0060352 Kleefstra syndrome 1 oboInOwl:hasDbXref GARD:8672 semapv:UnspecifiedMatching @@ -2467,12 +2466,12 @@ DOID:0060386 Chilblain lupus oboInOwl:hasDbXref OMIM:610448 semapv:UnspecifiedMa DOID:0060386 Chilblain lupus oboInOwl:hasDbXref OMIM:614415 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref ORDO:90280 semapv:UnspecifiedMatching DOID:0060386 Chilblain lupus oboInOwl:hasDbXref UMLS_CUI:C0024145 semapv:UnspecifiedMatching -DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref UMLS_CUI:C1859148 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref ORDO:50945 semapv:UnspecifiedMatching +DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref UMLS_CUI:C1859148 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref OMIM:215045 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref MESH:C537914 semapv:UnspecifiedMatching -DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref GARD:914 semapv:UnspecifiedMatching DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref NCI:C131420 semapv:UnspecifiedMatching +DOID:0060387 chondrodysplasia Blomstrand type oboInOwl:hasDbXref GARD:914 semapv:UnspecifiedMatching DOID:0060389 chromosome 10q23 deletion syndrome oboInOwl:hasDbXref MESH:C567385 semapv:UnspecifiedMatching DOID:0060389 chromosome 10q23 deletion syndrome oboInOwl:hasDbXref OMIM:612242 semapv:UnspecifiedMatching DOID:0060390 distal 10q deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching @@ -2485,8 +2484,8 @@ DOID:0060391 chromosome 13q14 deletion syndrome oboInOwl:hasDbXref ORDO:1587 sem DOID:0060392 chromosome 14q11-q22 deletion syndrome oboInOwl:hasDbXref OMIM:613457 semapv:UnspecifiedMatching DOID:0060392 chromosome 14q11-q22 deletion syndrome oboInOwl:hasDbXref ORDO:261120 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C3180937 semapv:UnspecifiedMatching -DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261183 semapv:UnspecifiedMatching DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:615656 semapv:UnspecifiedMatching +DOID:0060393 chromosome 15q11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261183 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref GARD:10296 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060394 chromosome 15q13.3 microdeletion syndrome oboInOwl:hasDbXref MESH:C567439 semapv:UnspecifiedMatching @@ -2502,9 +2501,9 @@ DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref OMIM:612 DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref ORDO:1596 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060397 chromosome 15q26-qter deletion syndrome oboInOwl:hasDbXref MESH:C567232 semapv:UnspecifiedMatching -DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261222 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613444 semapv:UnspecifiedMatching +DOID:0060398 chromosome 16p11.2 deletion syndrome oboInOwl:hasDbXref ORDO:261222 semapv:UnspecifiedMatching DOID:0060399 chromosome 16p12.1 deletion syndrome oboInOwl:hasDbXref OMIM:136570 semapv:UnspecifiedMatching DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060400 chromosome 16p12.2-p11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613604 semapv:UnspecifiedMatching @@ -2513,28 +2512,28 @@ DOID:0060401 chromosome 16q22 deletion syndrome oboInOwl:hasDbXref OMIM:614541 s DOID:0060402 chromosome 17p13.1 deletion syndrome oboInOwl:hasDbXref GARD:10996 semapv:UnspecifiedMatching DOID:0060402 chromosome 17p13.1 deletion syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching DOID:0060402 chromosome 17p13.1 deletion syndrome oboInOwl:hasDbXref OMIM:613776 semapv:UnspecifiedMatching +DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref ORDO:97685 semapv:UnspecifiedMatching DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q85.0 semapv:UnspecifiedMatching DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref MESH:C563524 semapv:UnspecifiedMatching -DOID:0060403 chromosome 17q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613675 semapv:UnspecifiedMatching -DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref ORDO:261265 semapv:UnspecifiedMatching -DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref OMIM:614527 semapv:UnspecifiedMatching -DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref GARD:13297 semapv:UnspecifiedMatching +DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching +DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref OMIM:614527 semapv:UnspecifiedMatching +DOID:0060404 chromosome 17q12 deletion syndrome oboInOwl:hasDbXref ORDO:261265 semapv:UnspecifiedMatching +DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref ORDO:261279 semapv:UnspecifiedMatching +DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref OMIM:613355 semapv:UnspecifiedMatching DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref GARD:10936 semapv:UnspecifiedMatching DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref OMIM:613355 semapv:UnspecifiedMatching -DOID:0060405 chromosome 17q23.1-q23.2 deletion syndrome oboInOwl:hasDbXref ORDO:261279 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref GARD:8631 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref MESH:C538309 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref NCI:C84521 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref OMIM:146390 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref ORDO:1598 semapv:UnspecifiedMatching DOID:0060406 chromosome 18p deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C0432442 semapv:UnspecifiedMatching -DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref OMIM:601808 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref ORDO:1600 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref MESH:C536580 semapv:UnspecifiedMatching DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching +DOID:0060407 chromosome 18q deletion syndrome oboInOwl:hasDbXref OMIM:601808 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref GARD:10592 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref MESH:C567810 semapv:UnspecifiedMatching DOID:0060408 chromosome 19q13.11 deletion syndrome oboInOwl:hasDbXref OMIM:613026 semapv:UnspecifiedMatching @@ -2544,9 +2543,9 @@ DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:Unspe DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref MESH:C535594 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref OMIM:613735 semapv:UnspecifiedMatching DOID:0060409 NFIA-related disorder oboInOwl:hasDbXref ORDO:401986 semapv:UnspecifiedMatching -DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref ORDO:1606 semapv:UnspecifiedMatching -DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C1842870 semapv:UnspecifiedMatching +DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:UnspecifiedMatching +DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref ORDO:1606 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref MESH:C535362 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref GARD:6082 semapv:UnspecifiedMatching DOID:0060410 chromosome 1p36 deletion syndrome oboInOwl:hasDbXref NCI:C74983 semapv:UnspecifiedMatching @@ -2564,9 +2563,9 @@ DOID:0060413 chromosome 22q11.2 deletion syndrome, distal oboInOwl:hasDbXref ORD DOID:0060414 chromosome 2p12-p11.2 deletion syndrome oboInOwl:hasDbXref OMIM:613564 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref OMIM:612513 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref ORDO:261349 semapv:UnspecifiedMatching -DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref MESH:C567289 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref GARD:13391 semapv:UnspecifiedMatching +DOID:0060415 chromosome 2p16.1-p15 deletion syndrome oboInOwl:hasDbXref MESH:C567289 semapv:UnspecifiedMatching DOID:0060416 chromosome 2q31.2 deletion syndrome oboInOwl:hasDbXref MESH:C567344 semapv:UnspecifiedMatching DOID:0060416 chromosome 2q31.2 deletion syndrome oboInOwl:hasDbXref OMIM:612345 semapv:UnspecifiedMatching DOID:0060417 3p deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching @@ -2576,10 +2575,10 @@ DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref MESH:C53680 DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref OMIM:615433 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref ORDO:1621 semapv:UnspecifiedMatching DOID:0060418 chromosome 3q13.31 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C2931338 semapv:UnspecifiedMatching -DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref OMIM:609425 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref ORDO:65286 semapv:UnspecifiedMatching -DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref GARD:11974 semapv:UnspecifiedMatching +DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref OMIM:609425 semapv:UnspecifiedMatching DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref MESH:C567184 semapv:UnspecifiedMatching +DOID:0060419 chromosome 3q29 microdeletion syndrome oboInOwl:hasDbXref GARD:11974 semapv:UnspecifiedMatching DOID:0060420 chromosome 4q21 deletion syndrome oboInOwl:hasDbXref OMIM:613509 semapv:UnspecifiedMatching DOID:0060420 chromosome 4q21 deletion syndrome oboInOwl:hasDbXref ORDO:238750 semapv:UnspecifiedMatching DOID:0060421 chromosome 5q12 deletion syndrome oboInOwl:hasDbXref OMIM:615668 semapv:UnspecifiedMatching @@ -2597,32 +2596,32 @@ DOID:0060426 chromosome 19p13.13 deletion syndrome oboInOwl:hasDbXref OMIM:61363 DOID:0060427 chromosome Xp21 deletion syndrome oboInOwl:hasDbXref OMIM:300679 semapv:UnspecifiedMatching DOID:0060427 chromosome Xp21 deletion syndrome oboInOwl:hasDbXref ORDO:261476 semapv:UnspecifiedMatching DOID:0060427 chromosome Xp21 deletion syndrome oboInOwl:hasDbXref ICD10CM:Q99.8 semapv:UnspecifiedMatching -DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref MESH:C567350 semapv:UnspecifiedMatching -DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref ORDO:251019 semapv:UnspecifiedMatching +DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching +DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref MESH:C567350 semapv:UnspecifiedMatching +DOID:0060428 SATB2-associated syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060430 chromosome 16p11.2 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060430 chromosome 16p11.2 duplication syndrome oboInOwl:hasDbXref OMIM:614671 semapv:UnspecifiedMatching DOID:0060430 chromosome 16p11.2 duplication syndrome oboInOwl:hasDbXref ORDO:370079 semapv:UnspecifiedMatching -DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref ORDO:96078 semapv:UnspecifiedMatching DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref OMIM:613458 semapv:UnspecifiedMatching +DOID:0060431 chromosome 16p13.3 duplication syndrome oboInOwl:hasDbXref ORDO:96078 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref MESH:C567705 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref OMIM:613215 semapv:UnspecifiedMatching DOID:0060432 chromosome 17p13.3 duplication syndrome oboInOwl:hasDbXref ORDO:217385 semapv:UnspecifiedMatching -DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref ORDO:261272 semapv:UnspecifiedMatching DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref OMIM:614526 semapv:UnspecifiedMatching -DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching +DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref ORDO:261272 semapv:UnspecifiedMatching DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref GARD:13296 semapv:UnspecifiedMatching +DOID:0060433 chromosome 17q12 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060434 chromosome 17q21.31 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060434 chromosome 17q21.31 duplication syndrome oboInOwl:hasDbXref OMIM:613533 semapv:UnspecifiedMatching DOID:0060434 chromosome 17q21.31 duplication syndrome oboInOwl:hasDbXref ORDO:217340 semapv:UnspecifiedMatching -DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref GARD:10591 semapv:UnspecifiedMatching -DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching +DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref ORDO:250994 semapv:UnspecifiedMatching DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref MESH:C567290 semapv:UnspecifiedMatching DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref OMIM:612475 semapv:UnspecifiedMatching -DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref ORDO:250994 semapv:UnspecifiedMatching +DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref GARD:10591 semapv:UnspecifiedMatching +DOID:0060435 chromosome 1q21.1 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref MESH:C567224 semapv:UnspecifiedMatching DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:608363 semapv:UnspecifiedMatching @@ -2630,8 +2629,8 @@ DOID:0060436 chromosome 22q11.2 microduplication syndrome oboInOwl:hasDbXref ORD DOID:0060437 chromosome 22q13 duplication syndrome oboInOwl:hasDbXref OMIM:615538 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref ORDO:2050 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:616294 semapv:UnspecifiedMatching -DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref MESH:C535963 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref NCI:C130985 semapv:UnspecifiedMatching +DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref MESH:C535963 semapv:UnspecifiedMatching DOID:0060438 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:112240 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref GARD:3335 semapv:UnspecifiedMatching DOID:0060439 lysinuric protein intolerance oboInOwl:hasDbXref MESH:C562687 semapv:UnspecifiedMatching @@ -2643,10 +2642,10 @@ DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref MESH:C535474 semapv DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref OMIM:607541 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref ORDO:98963 semapv:UnspecifiedMatching DOID:0060444 granular corneal dystrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1275685 semapv:UnspecifiedMatching -DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ORDO:101068 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref OMIM:610048 semapv:UnspecifiedMatching -DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching +DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ORDO:101068 semapv:UnspecifiedMatching DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref MESH:C566452 semapv:UnspecifiedMatching +DOID:0060445 congenital stromal corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref MESH:C567587 semapv:UnspecifiedMatching DOID:0060446 X-linked endothelial corneal dystrophy oboInOwl:hasDbXref OMIM:300779 semapv:UnspecifiedMatching @@ -2660,10 +2659,10 @@ DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref OMIM:121850 semapv:Unspe DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref ORDO:98970 semapv:UnspecifiedMatching DOID:0060448 Fleck corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C1562113 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339273 semapv:UnspecifiedMatching +DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref ORDO:98957 semapv:UnspecifiedMatching -DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref NCI:C142805 semapv:UnspecifiedMatching -DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref OMIM:204870 semapv:UnspecifiedMatching +DOID:0060449 gelatinous drop-like corneal dystrophy oboInOwl:hasDbXref MESH:C535480 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref MESH:C567588 semapv:UnspecifiedMatching DOID:0060450 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:300778 semapv:UnspecifiedMatching @@ -2678,25 +2677,25 @@ DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref ORDO:98954 semapv:Uns DOID:0060451 Meesmann corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339277 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref ORDO:98971 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref OMIM:612868 semapv:UnspecifiedMatching -DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref MESH:C567546 semapv:UnspecifiedMatching DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching +DOID:0060452 posterior amorphous corneal dystrophy oboInOwl:hasDbXref MESH:C567546 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref MESH:C535476 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref OMIM:608470 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref ORDO:98961 semapv:UnspecifiedMatching DOID:0060453 Reis-Bucklers corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0339278 semapv:UnspecifiedMatching +DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref MESH:C567547 semapv:UnspecifiedMatching -DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref OMIM:612867 semapv:UnspecifiedMatching DOID:0060454 subepithelial mucinous corneal dystrophy oboInOwl:hasDbXref ORDO:98959 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref MESH:C535942 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref OMIM:602082 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref ORDO:98960 semapv:UnspecifiedMatching DOID:0060455 Thiel-Behnke corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C1562894 semapv:UnspecifiedMatching -DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0271287 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref ORDO:98967 semapv:UnspecifiedMatching +DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0271287 semapv:UnspecifiedMatching +DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref GARD:9277 semapv:UnspecifiedMatching DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv:UnspecifiedMatching -DOID:0060456 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref MESH:C562745 semapv:UnspecifiedMatching DOID:0060457 posterior polymorphous corneal dystrophy oboInOwl:hasDbXref OMIMPS:122000 semapv:UnspecifiedMatching @@ -2707,8 +2706,8 @@ DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref ICD10C DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref MESH:C567626 semapv:UnspecifiedMatching DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref OMIM:611936 semapv:UnspecifiedMatching DOID:0060459 chromosome 3q29 microduplication syndrome oboInOwl:hasDbXref ORDO:251038 semapv:UnspecifiedMatching -DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref ORDO:329802 semapv:UnspecifiedMatching DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref OMIM:613174 semapv:UnspecifiedMatching +DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref ORDO:329802 semapv:UnspecifiedMatching DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref MESH:C567717 semapv:UnspecifiedMatching DOID:0060460 chromosome 5p13 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q92.3 semapv:UnspecifiedMatching DOID:0060461 chromosome Xp11.23-p11.22 duplication syndrome oboInOwl:hasDbXref ICD10CM:Q99.8 semapv:UnspecifiedMatching @@ -2722,113 +2721,113 @@ DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref OMIM:251450 semapv:Unspecif DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref OMIM:615777 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref ORDO:1425 semapv:UnspecifiedMatching DOID:0060462 Desbuquois dysplasia oboInOwl:hasDbXref UMLS_CUI:C0432242 semapv:UnspecifiedMatching -DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref UMLS_CUI:C1707291 semapv:UnspecifiedMatching DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref NCI:C45716 semapv:UnspecifiedMatching -DOID:0060464 Feingold syndrome oboInOwl:hasDbXref GARD:8407 semapv:UnspecifiedMatching -DOID:0060464 Feingold syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching -DOID:0060464 Feingold syndrome oboInOwl:hasDbXref MESH:C537734 semapv:UnspecifiedMatching -DOID:0060464 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching +DOID:0060463 NUT midline carcinoma oboInOwl:hasDbXref UMLS_CUI:C1707291 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching DOID:0060464 Feingold syndrome oboInOwl:hasDbXref ORDO:1305 semapv:UnspecifiedMatching +DOID:0060464 Feingold syndrome oboInOwl:hasDbXref MESH:C537734 semapv:UnspecifiedMatching +DOID:0060464 Feingold syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching +DOID:0060464 Feingold syndrome oboInOwl:hasDbXref GARD:8407 semapv:UnspecifiedMatching +DOID:0060464 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref GARD:2321 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref MESH:C562524 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref OMIMPS:228520 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref ORDO:2021 semapv:UnspecifiedMatching DOID:0060465 fibrochondrogenesis oboInOwl:hasDbXref UMLS_CUI:C0265282 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0399440 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref ORDO:2024 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:611010 semapv:UnspecifiedMatching +DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 semapv:UnspecifiedMatching +DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref ORDO:2024 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:135300 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:605544 semapv:UnspecifiedMatching DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref MESH:C562884 semapv:UnspecifiedMatching -DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:609955 semapv:UnspecifiedMatching +DOID:0060466 gingival fibromatosis oboInOwl:hasDbXref OMIM:605544 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref GARD:2748 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref MESH:C535284 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref OMIM:143050 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref OMIM:236400 semapv:UnspecifiedMatching DOID:0060467 humeroradial synostosis oboInOwl:hasDbXref ORDO:3265 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref ORDO:392 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref NCI:C125592 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref UMLS_CUI:C0265264 semapv:UnspecifiedMatching -DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref GARD:6666 semapv:UnspecifiedMatching +DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref MESH:C535326 semapv:UnspecifiedMatching +DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref NCI:C125592 semapv:UnspecifiedMatching +DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref OMIM:142900 semapv:UnspecifiedMatching +DOID:0060468 Holt-Oram syndrome oboInOwl:hasDbXref UMLS_CUI:C0265264 semapv:UnspecifiedMatching +DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref UMLS_CUI:C0265219 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref ORDO:531 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref OMIM:247200 semapv:UnspecifiedMatching -DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref UMLS_CUI:C0265219 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref ICD10CM:Q93.88 semapv:UnspecifiedMatching DOID:0060469 Miller-Dieker lissencephaly syndrome oboInOwl:hasDbXref NCI:C124852 semapv:UnspecifiedMatching DOID:0060470 salt and pepper syndrome oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching DOID:0060470 salt and pepper syndrome oboInOwl:hasDbXref ORDO:370938 semapv:UnspecifiedMatching +DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref ORDO:1906 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref MESH:C536525 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref NCI:C98930 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref OMIM:609442 semapv:UnspecifiedMatching -DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref ORDO:1906 semapv:UnspecifiedMatching DOID:0060471 fetal valproate syndrome oboInOwl:hasDbXref UMLS_CUI:C0236026 semapv:UnspecifiedMatching -DOID:0060472 Kindler syndrome oboInOwl:hasDbXref ORDO:306539 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref OMIM:173650 semapv:UnspecifiedMatching +DOID:0060472 Kindler syndrome oboInOwl:hasDbXref ORDO:306539 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref GARD:4391 semapv:UnspecifiedMatching DOID:0060472 Kindler syndrome oboInOwl:hasDbXref MESH:C536321 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref GARD:6810 semapv:UnspecifiedMatching +DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref UMLS_CUI:C0796004 semapv:UnspecifiedMatching +DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref ORDO:2322 semapv:UnspecifiedMatching +DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:300867 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref MESH:C537705 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref NCI:C124837 semapv:UnspecifiedMatching +DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref GARD:6810 semapv:UnspecifiedMatching DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:147920 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref OMIM:300867 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref ORDO:2322 semapv:UnspecifiedMatching -DOID:0060473 Kabuki syndrome oboInOwl:hasDbXref UMLS_CUI:C0796004 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref OMIM:263400 semapv:UnspecifiedMatching DOID:0060474 familial erythrocytosis 2 oboInOwl:hasDbXref ORDO:238557 semapv:UnspecifiedMatching DOID:0060475 myoclonic-atonic epilepsy oboInOwl:hasDbXref OMIM:616421 semapv:UnspecifiedMatching -DOID:0060476 Perlman syndrome oboInOwl:hasDbXref ORDO:2849 semapv:UnspecifiedMatching -DOID:0060476 Perlman syndrome oboInOwl:hasDbXref MESH:C536399 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref OMIM:267000 semapv:UnspecifiedMatching +DOID:0060476 Perlman syndrome oboInOwl:hasDbXref MESH:C536399 semapv:UnspecifiedMatching +DOID:0060476 Perlman syndrome oboInOwl:hasDbXref ORDO:2849 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref GARD:3936 semapv:UnspecifiedMatching DOID:0060476 Perlman syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching -DOID:0060478 Zika fever oboInOwl:hasDbXref ICD10CM:A92.8 semapv:UnspecifiedMatching DOID:0060478 Zika fever oboInOwl:hasDbXref MESH:D000071243 semapv:UnspecifiedMatching +DOID:0060478 Zika fever oboInOwl:hasDbXref ICD10CM:A92.8 semapv:UnspecifiedMatching +DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 semapv:UnspecifiedMatching +DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref MESH:C537330 semapv:UnspecifiedMatching DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref GARD:4863 semapv:UnspecifiedMatching DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref ICD10CM:D61.0 semapv:UnspecifiedMatching -DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref MESH:C537330 semapv:UnspecifiedMatching -DOID:0060479 Shwachman-Diamond syndrome oboInOwl:hasDbXref OMIM:260400 semapv:UnspecifiedMatching DOID:0060480 left ventricular noncompaction oboInOwl:hasDbXref GARD:10985 semapv:UnspecifiedMatching DOID:0060480 left ventricular noncompaction oboInOwl:hasDbXref OMIM:604169 semapv:UnspecifiedMatching DOID:0060480 left ventricular noncompaction oboInOwl:hasDbXref ORDO:54260 semapv:UnspecifiedMatching -DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref ORDO:66629 semapv:UnspecifiedMatching -DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref UMLS_CUI:C1836123 semapv:UnspecifiedMatching -DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref MESH:C537279 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref GARD:9849 semapv:UnspecifiedMatching +DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref MESH:C537279 semapv:UnspecifiedMatching DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref OMIM:609460 semapv:UnspecifiedMatching +DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref ORDO:66629 semapv:UnspecifiedMatching +DOID:0060481 Goldberg-Shprintzen syndrome oboInOwl:hasDbXref UMLS_CUI:C1836123 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref MESH:C567416 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref OMIM:612109 semapv:UnspecifiedMatching DOID:0060482 oculoauricular syndrome oboInOwl:hasDbXref ORDO:157962 semapv:UnspecifiedMatching -DOID:0060483 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 semapv:UnspecifiedMatching DOID:0060483 MEDNIK syndrome oboInOwl:hasDbXref ORDO:171851 semapv:UnspecifiedMatching -DOID:0060484 EAST syndrome oboInOwl:hasDbXref ORDO:199343 semapv:UnspecifiedMatching +DOID:0060483 MEDNIK syndrome oboInOwl:hasDbXref OMIM:609313 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref MESH:C557674 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref OMIM:612780 semapv:UnspecifiedMatching +DOID:0060484 EAST syndrome oboInOwl:hasDbXref ORDO:199343 semapv:UnspecifiedMatching DOID:0060484 EAST syndrome oboInOwl:hasDbXref UMLS_CUI:C2748572 semapv:UnspecifiedMatching +DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref GARD:9673 semapv:UnspecifiedMatching +DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching +DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref NCI:C74999 semapv:UnspecifiedMatching +DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref ORDO:2152 semapv:UnspecifiedMatching DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref UMLS_CUI:C1856113 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref OMIM:235730 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref NCI:C74999 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref MESH:C536990 semapv:UnspecifiedMatching -DOID:0060485 Mowat-Wilson syndrome oboInOwl:hasDbXref GARD:9673 semapv:UnspecifiedMatching +DOID:0060486 Perry syndrome oboInOwl:hasDbXref ORDO:178509 semapv:UnspecifiedMatching +DOID:0060486 Perry syndrome oboInOwl:hasDbXref OMIM:168605 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref GARD:10453 semapv:UnspecifiedMatching DOID:0060486 Perry syndrome oboInOwl:hasDbXref MESH:C566822 semapv:UnspecifiedMatching -DOID:0060486 Perry syndrome oboInOwl:hasDbXref OMIM:168605 semapv:UnspecifiedMatching -DOID:0060486 Perry syndrome oboInOwl:hasDbXref ORDO:178509 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref GARD:4372 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref MESH:C537403 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref NCI:C129872 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref OMIM:610954 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref ORDO:2896 semapv:UnspecifiedMatching DOID:0060488 Pitt-Hopkins syndrome oboInOwl:hasDbXref UMLS_CUI:C1970431 semapv:UnspecifiedMatching -DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS_CUI:C0877024 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref ORDO:1830 semapv:UnspecifiedMatching +DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref UMLS_CUI:C0877024 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref OMIM:242900 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref MESH:C536629 semapv:UnspecifiedMatching DOID:0060490 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref GARD:4984 semapv:UnspecifiedMatching @@ -2839,21 +2838,21 @@ DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref OMIM:609541 semapv:UnspecifiedMat DOID:0060491 SPOAN syndrome oboInOwl:hasDbXref ORDO:320406 semapv:UnspecifiedMatching DOID:0060534 hepatoid adenocarcinoma oboInOwl:hasDbXref ICDO:8576/3 semapv:UnspecifiedMatching DOID:0060534 hepatoid adenocarcinoma oboInOwl:hasDbXref NCI:C66950 semapv:UnspecifiedMatching -DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref ORDO:280558 semapv:UnspecifiedMatching -DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref GARD:13708 semapv:UnspecifiedMatching DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref OMIM:613398 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching +DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref GARD:13708 semapv:UnspecifiedMatching +DOID:0060535 Warsaw breakage syndrome oboInOwl:hasDbXref ORDO:280558 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref ORDO:2609 semapv:UnspecifiedMatching +DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching +DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS_CUI:C1838979 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref GARD:3908 semapv:UnspecifiedMatching DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref MESH:C537475 semapv:UnspecifiedMatching -DOID:0060536 mitochondrial complex I deficiency oboInOwl:hasDbXref UMLS_CUI:C1838979 semapv:UnspecifiedMatching -DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ORDO:3208 semapv:UnspecifiedMatching -DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref MESH:C565375 semapv:UnspecifiedMatching -DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ICD10CM:G71.3 semapv:UnspecifiedMatching +DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref GARD:5053 semapv:UnspecifiedMatching -DOID:0060538 purpura fulminans oboInOwl:hasDbXref ICD10CM:D65 semapv:UnspecifiedMatching +DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ICD10CM:G71.3 semapv:UnspecifiedMatching +DOID:0060537 mitochondrial complex II deficiency oboInOwl:hasDbXref ORDO:3208 semapv:UnspecifiedMatching DOID:0060538 purpura fulminans oboInOwl:hasDbXref MESH:D055665 semapv:UnspecifiedMatching +DOID:0060538 purpura fulminans oboInOwl:hasDbXref ICD10CM:D65 semapv:UnspecifiedMatching DOID:0060538 purpura fulminans oboInOwl:hasDbXref ORDO:49566 semapv:UnspecifiedMatching DOID:0060539 Hermansky-Pudlak syndrome 1 oboInOwl:hasDbXref OMIM:203300 semapv:UnspecifiedMatching DOID:0060540 Hermansky-Pudlak syndrome 2 oboInOwl:hasDbXref MESH:C537709 semapv:UnspecifiedMatching @@ -2867,43 +2866,43 @@ DOID:0060546 Hermansky-Pudlak syndrome 8 oboInOwl:hasDbXref OMIM:614077 semapv:U DOID:0060547 Hermansky-Pudlak syndrome 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref NCI:C53554 semapv:UnspecifiedMatching DOID:0060548 luminal breast carcinoma A oboInOwl:hasDbXref UMLS_CUI:C3642345 semapv:UnspecifiedMatching -DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref GARD:819 semapv:UnspecifiedMatching -DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching +DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref UMLS_CUI:C1319466 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref OMIM:209885 semapv:UnspecifiedMatching DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref ORDO:1231 semapv:UnspecifiedMatching -DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref UMLS_CUI:C1319466 semapv:UnspecifiedMatching +DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref GARD:819 semapv:UnspecifiedMatching +DOID:0060549 Barber-Say syndrome oboInOwl:hasDbXref MESH:C537908 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref GARD:3 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref MESH:C535557 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref OMIM:200110 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref ORDO:920 semapv:UnspecifiedMatching DOID:0060550 ablepharon macrostomia syndrome oboInOwl:hasDbXref UMLS_CUI:C1860224 semapv:UnspecifiedMatching -DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 semapv:UnspecifiedMatching -DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref MESH:C565820 semapv:UnspecifiedMatching -DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref ORDO:221046 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref GARD:4085 semapv:UnspecifiedMatching DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching +DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref MESH:C565820 semapv:UnspecifiedMatching +DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref OMIM:604173 semapv:UnspecifiedMatching +DOID:0060551 poikiloderma with neutropenia oboInOwl:hasDbXref ORDO:221046 semapv:UnspecifiedMatching +DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref ORDO:306674 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref MESH:C537177 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching -DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref ORDO:306674 semapv:UnspecifiedMatching DOID:0060556 Kufor-Rakeb syndrome oboInOwl:hasDbXref UMLS_CUI:C1847640 semapv:UnspecifiedMatching DOID:0060557 ataxia with oculomotor apraxia type 3 oboInOwl:hasDbXref OMIM:615217 semapv:UnspecifiedMatching -DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref ORDO:294965 semapv:UnspecifiedMatching -DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref OMIMPS:253310 semapv:UnspecifiedMatching -DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref ICD10CM:Q68.8 semapv:UnspecifiedMatching DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref GARD:12643 semapv:UnspecifiedMatching +DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref ICD10CM:Q68.8 semapv:UnspecifiedMatching +DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref OMIMPS:253310 semapv:UnspecifiedMatching +DOID:0060558 lethal congenital contracture syndrome oboInOwl:hasDbXref ORDO:294965 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref GARD:3227 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref MESH:C537194 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref OMIM:253310 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref ORDO:1486 semapv:UnspecifiedMatching DOID:0060559 lethal congenital contracture syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C1854664 semapv:UnspecifiedMatching -DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref ORDO:137776 semapv:UnspecifiedMatching -DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref OMIM:607598 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref GARD:9177 semapv:UnspecifiedMatching DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref MESH:C564369 semapv:UnspecifiedMatching +DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref OMIM:607598 semapv:UnspecifiedMatching +DOID:0060560 lethal congenital contracture syndrome 2 oboInOwl:hasDbXref ORDO:137776 semapv:UnspecifiedMatching DOID:0060562 anomalous left coronary artery from the pulmonary artery oboInOwl:hasDbXref MESH:D063748 semapv:UnspecifiedMatching -DOID:0060563 Char syndrome oboInOwl:hasDbXref GARD:1237 semapv:UnspecifiedMatching -DOID:0060563 Char syndrome oboInOwl:hasDbXref MESH:C566815 semapv:UnspecifiedMatching DOID:0060563 Char syndrome oboInOwl:hasDbXref OMIM:169100 semapv:UnspecifiedMatching +DOID:0060563 Char syndrome oboInOwl:hasDbXref MESH:C566815 semapv:UnspecifiedMatching +DOID:0060563 Char syndrome oboInOwl:hasDbXref GARD:1237 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref MESH:C535313 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref OMIMPS:220210 semapv:UnspecifiedMatching DOID:0060565 Ritscher-Schinzel syndrome oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching @@ -2912,19 +2911,19 @@ DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref MESH:C535327 se DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref OMIM:236110 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref ORDO:2167 semapv:UnspecifiedMatching DOID:0060566 Holzgreve-Wagner-Rehder Syndrome oboInOwl:hasDbXref UMLS_CUI:C1856095 semapv:UnspecifiedMatching -DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref UMLS_CUI:C0263398 semapv:UnspecifiedMatching -DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ORDO:90000 semapv:UnspecifiedMatching -DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching -DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ICD10CM:L95.1 semapv:UnspecifiedMatching DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref GARD:8653 semapv:UnspecifiedMatching +DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ICD10CM:L95.1 semapv:UnspecifiedMatching +DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref MESH:C535509 semapv:UnspecifiedMatching +DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref ORDO:90000 semapv:UnspecifiedMatching +DOID:0060567 erythema elevatum diutinum oboInOwl:hasDbXref UMLS_CUI:C0263398 semapv:UnspecifiedMatching +DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref OMIM:239850 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref GARD:8585 semapv:UnspecifiedMatching DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref MESH:C535572 semapv:UnspecifiedMatching -DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type oboInOwl:hasDbXref OMIM:239850 semapv:UnspecifiedMatching DOID:0060570 cardiac tuberculosis oboInOwl:hasDbXref MESH:D014381 semapv:UnspecifiedMatching DOID:0060571 Ritscher-Schinzel syndrome 1 oboInOwl:hasDbXref OMIM:220210 semapv:UnspecifiedMatching DOID:0060571 Ritscher-Schinzel syndrome 1 oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching -DOID:0060572 Ritscher-Schinzel syndrome 2 oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching DOID:0060572 Ritscher-Schinzel syndrome 2 oboInOwl:hasDbXref OMIM:300963 semapv:UnspecifiedMatching +DOID:0060572 Ritscher-Schinzel syndrome 2 oboInOwl:hasDbXref ORDO:7 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref ICD10CM:D68.01 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref MESH:D056725 semapv:UnspecifiedMatching DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref NCI:C131685 semapv:UnspecifiedMatching @@ -2932,9 +2931,9 @@ DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref OMIM:193400 semapv:Un DOID:0060573 von Willebrand's disease 1 oboInOwl:hasDbXref UMLS_CUI:C1264039 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref UMLS_CUI:C1264040 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ORDO:166081 semapv:UnspecifiedMatching -DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ICD10CM:D68.02 semapv:UnspecifiedMatching -DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref OMIM:613554 semapv:UnspecifiedMatching +DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref MESH:D056728 semapv:UnspecifiedMatching +DOID:0060574 von Willebrand's disease 2 oboInOwl:hasDbXref ICD10CM:D68.02 semapv:UnspecifiedMatching DOID:0060575 3MC syndrome 1 oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMatching DOID:0060576 3MC syndrome 2 oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching DOID:0060577 3MC syndrome 3 oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching @@ -2943,46 +2942,46 @@ DOID:0060578 Noonan syndrome 1 oboInOwl:hasDbXref OMIM:163950 semapv:Unspecified DOID:0060580 Noonan syndrome 2 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060580 Noonan syndrome 2 oboInOwl:hasDbXref MESH:C548081 semapv:UnspecifiedMatching DOID:0060580 Noonan syndrome 2 oboInOwl:hasDbXref OMIM:605275 semapv:UnspecifiedMatching -DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref OMIM:609942 semapv:UnspecifiedMatching DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref MESH:C537847 semapv:UnspecifiedMatching +DOID:0060581 Noonan syndrome 3 oboInOwl:hasDbXref OMIM:609942 semapv:UnspecifiedMatching DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref OMIM:610733 semapv:UnspecifiedMatching -DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref MESH:C548082 semapv:UnspecifiedMatching +DOID:0060582 Noonan syndrome 4 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060583 Noonan syndrome 5 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060583 Noonan syndrome 5 oboInOwl:hasDbXref MESH:C548083 semapv:UnspecifiedMatching DOID:0060583 Noonan syndrome 5 oboInOwl:hasDbXref OMIM:611553 semapv:UnspecifiedMatching DOID:0060584 Noonan syndrome 6 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060584 Noonan syndrome 6 oboInOwl:hasDbXref MESH:C548084 semapv:UnspecifiedMatching DOID:0060584 Noonan syndrome 6 oboInOwl:hasDbXref OMIM:613224 semapv:UnspecifiedMatching -DOID:0060585 Noonan syndrome 7 oboInOwl:hasDbXref OMIM:613706 semapv:UnspecifiedMatching DOID:0060585 Noonan syndrome 7 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching +DOID:0060585 Noonan syndrome 7 oboInOwl:hasDbXref OMIM:613706 semapv:UnspecifiedMatching DOID:0060586 Noonan syndrome 8 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060586 Noonan syndrome 8 oboInOwl:hasDbXref OMIM:615355 semapv:UnspecifiedMatching DOID:0060587 Noonan syndrome 9 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060587 Noonan syndrome 9 oboInOwl:hasDbXref OMIM:616559 semapv:UnspecifiedMatching DOID:0060588 Noonan syndrome 10 oboInOwl:hasDbXref OMIM:616564 semapv:UnspecifiedMatching DOID:0060588 Noonan syndrome 10 oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching -DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS_CUI:C1857663 semapv:UnspecifiedMatching -DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref GARD:331 semapv:UnspecifiedMatching DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref MESH:C536719 semapv:UnspecifiedMatching +DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref OMIM:216340 semapv:UnspecifiedMatching +DOID:0060589 Yunis-Varon syndrome oboInOwl:hasDbXref UMLS_CUI:C1857663 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref GARD:10628 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref MESH:C567043 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref OMIM:610965 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref UMLS_CUI:C0472817 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref GARD:9297 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref NCI:C176819 semapv:UnspecifiedMatching DOID:0060591 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome oboInOwl:hasDbXref UMLS_CUI:C0472817 semapv:UnspecifiedMatching DOID:0060592 B-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9143 semapv:UnspecifiedMatching +DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref NCI:C3519 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ORDO:98824 semapv:UnspecifiedMatching +DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref MESH:D054438 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref UMLS_CUI:C1292772 semapv:UnspecifiedMatching -DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref NCI:C3519 semapv:UnspecifiedMatching +DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD9CM:205.2 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD10CM:C92.2 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICDO:9876/3 semapv:UnspecifiedMatching -DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref MESH:D054438 semapv:UnspecifiedMatching -DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD9CM:205.2 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref GARD:7161 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref MESH:C538336 semapv:UnspecifiedMatching DOID:0060599 Nance-Horan syndrome oboInOwl:hasDbXref OMIM:302350 semapv:UnspecifiedMatching @@ -2994,18 +2993,18 @@ DOID:0060601 alpha-2-plasmin inhibitor deficiency oboInOwl:hasDbXref ORDO:79 sem DOID:0060602 alpha-methylacyl-CoA racemase deficiency oboInOwl:hasDbXref MESH:C565768 semapv:UnspecifiedMatching DOID:0060602 alpha-methylacyl-CoA racemase deficiency oboInOwl:hasDbXref OMIM:614307 semapv:UnspecifiedMatching DOID:0060603 isolated anhidrosis with normal sweat glands oboInOwl:hasDbXref OMIM:106190 semapv:UnspecifiedMatching -DOID:0060604 ankyloglossia oboInOwl:hasDbXref MESH:D000072676 semapv:UnspecifiedMatching DOID:0060604 ankyloglossia skos:exactMatch MESH:D000072676 semapv:UnspecifiedMatching -DOID:0060604 ankyloglossia oboInOwl:hasDbXref ICD10CM:Q38.1 semapv:UnspecifiedMatching DOID:0060604 ankyloglossia oboInOwl:hasDbXref OMIM:106280 semapv:UnspecifiedMatching +DOID:0060604 ankyloglossia oboInOwl:hasDbXref ICD10CM:Q38.1 semapv:UnspecifiedMatching +DOID:0060604 ankyloglossia oboInOwl:hasDbXref MESH:D000072676 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref GARD:5120 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref MESH:C537577 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref OMIM:210710 semapv:UnspecifiedMatching DOID:0060608 microcephalic osteodysplastic primordial dwarfism type I oboInOwl:hasDbXref ORDO:2636 semapv:UnspecifiedMatching -DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref OMIM:210720 semapv:UnspecifiedMatching DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ICD10CM:Q87.1 semapv:UnspecifiedMatching DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref MESH:C565898 semapv:UnspecifiedMatching +DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref OMIM:210720 semapv:UnspecifiedMatching DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref ORDO:2637 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref UMLS_CUI:C1608393 semapv:UnspecifiedMatching DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome oboInOwl:hasDbXref OMIM:155310 semapv:UnspecifiedMatching @@ -3040,8 +3039,8 @@ DOID:0060642 recessive dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM: DOID:0060642 recessive dystrophic epidermolysis bullosa oboInOwl:hasDbXref ORDO:79408 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref ORDO:171 semapv:UnspecifiedMatching -DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref UMLS_CUI:C0566602 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref NCI:C4828 semapv:UnspecifiedMatching +DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref UMLS_CUI:C0566602 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref ICD10CM:K83.01 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref GARD:1280 semapv:UnspecifiedMatching DOID:0060643 primary sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching @@ -3055,64 +3054,65 @@ DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref OMIM: DOID:0060645 chronic recurrent multifocal osteomyelitis oboInOwl:hasDbXref ORDO:324964 semapv:UnspecifiedMatching DOID:0060646 congenital chylothorax oboInOwl:hasDbXref OMIM:603523 semapv:UnspecifiedMatching DOID:0060646 congenital chylothorax oboInOwl:hasDbXref ORDO:264688 semapv:UnspecifiedMatching -DOID:0060647 fetal encasement syndrome oboInOwl:hasDbXref ORDO:465824 semapv:UnspecifiedMatching DOID:0060647 fetal encasement syndrome oboInOwl:hasDbXref OMIM:613630 semapv:UnspecifiedMatching +DOID:0060647 fetal encasement syndrome oboInOwl:hasDbXref ORDO:465824 semapv:UnspecifiedMatching +DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref ORDO:88632 semapv:UnspecifiedMatching +DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref OMIMPS:107250 semapv:UnspecifiedMatching DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref GARD:10025 semapv:UnspecifiedMatching DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching -DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref OMIMPS:107250 semapv:UnspecifiedMatching -DOID:0060648 anterior segment dysgenesis oboInOwl:hasDbXref ORDO:88632 semapv:UnspecifiedMatching DOID:0060649 congenital hereditary endothelial dystrophy of cornea oboInOwl:hasDbXref OMIM:217700 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref GARD:1855 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref MESH:C536171 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref OMIM:222730 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref ORDO:2195 semapv:UnspecifiedMatching DOID:0060650 dicarboxylic aminoaciduria oboInOwl:hasDbXref UMLS_CUI:C1857253 semapv:UnspecifiedMatching -DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ORDO:182050 semapv:UnspecifiedMatching -DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching +DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching +DOID:0060651 MYH-9 related disease oboInOwl:hasDbXref ORDO:182050 semapv:UnspecifiedMatching +DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref ICD10CM:D75.0 semapv:UnspecifiedMatching DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref OMIM:133100 semapv:UnspecifiedMatching DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref ORDO:90042 semapv:UnspecifiedMatching -DOID:0060652 familial erythrocytosis 1 oboInOwl:hasDbXref ICD10CM:D75.0 semapv:UnspecifiedMatching DOID:0060653 lethal congenital contracture syndrome 3 oboInOwl:hasDbXref ORDO:137783 semapv:UnspecifiedMatching DOID:0060654 lethal congenital contracture syndrome 4 oboInOwl:hasDbXref GARD:12645 semapv:UnspecifiedMatching +DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref ORDO:281097 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref UMLS_CUI:C0079154 semapv:UnspecifiedMatching +DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref OMIMPS:242300 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref MESH:D017490 semapv:UnspecifiedMatching DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref NCI:C84805 semapv:UnspecifiedMatching -DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref OMIMPS:242300 semapv:UnspecifiedMatching -DOID:0060655 autosomal recessive congenital ichthyosis oboInOwl:hasDbXref ORDO:281097 semapv:UnspecifiedMatching -DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:281122 semapv:UnspecifiedMatching -DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:100976 semapv:UnspecifiedMatching -DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:313 semapv:UnspecifiedMatching -DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref GARD:3170 semapv:UnspecifiedMatching +DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching -DOID:0060668 anencephaly skos:exactMatch MESH:D000757 semapv:UnspecifiedMatching -DOID:0060668 anencephaly oboInOwl:hasDbXref ORDO:1048 semapv:UnspecifiedMatching -DOID:0060668 anencephaly oboInOwl:hasDbXref OMIM:206500 semapv:UnspecifiedMatching +DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:100976 semapv:UnspecifiedMatching +DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:281122 semapv:UnspecifiedMatching +DOID:0060656 autosomal recessive congenital ichthyosis 1 oboInOwl:hasDbXref ORDO:313 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref GARD:5808 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref ICD10CM:Q00.0 semapv:UnspecifiedMatching DOID:0060668 anencephaly oboInOwl:hasDbXref MESH:D000757 semapv:UnspecifiedMatching +DOID:0060668 anencephaly oboInOwl:hasDbXref OMIM:206500 semapv:UnspecifiedMatching +DOID:0060668 anencephaly oboInOwl:hasDbXref ORDO:1048 semapv:UnspecifiedMatching +DOID:0060668 anencephaly skos:exactMatch MESH:D000757 semapv:UnspecifiedMatching +DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref ORDO:221061 semapv:UnspecifiedMatching DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref ICD10CM:Q28.3 semapv:UnspecifiedMatching DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref OMIM:603284 semapv:UnspecifiedMatching -DOID:0060670 cerebral cavernous malformation 2 oboInOwl:hasDbXref ORDO:221061 semapv:UnspecifiedMatching DOID:0060671 cerebral cavernous malformation 3 oboInOwl:hasDbXref ICD10CM:Q28.3 semapv:UnspecifiedMatching DOID:0060671 cerebral cavernous malformation 3 oboInOwl:hasDbXref OMIM:603285 semapv:UnspecifiedMatching DOID:0060671 cerebral cavernous malformation 3 oboInOwl:hasDbXref ORDO:221061 semapv:UnspecifiedMatching DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions oboInOwl:hasDbXref ICD10CM:G31.0 semapv:UnspecifiedMatching DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions oboInOwl:hasDbXref OMIM:607485 semapv:UnspecifiedMatching -DOID:0060673 Peters anomaly oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching -DOID:0060673 Peters anomaly oboInOwl:hasDbXref MESH:C537884 semapv:UnspecifiedMatching -DOID:0060673 Peters anomaly oboInOwl:hasDbXref ORDO:708 semapv:UnspecifiedMatching DOID:0060673 Peters anomaly oboInOwl:hasDbXref GARD:7377 semapv:UnspecifiedMatching DOID:0060673 Peters anomaly oboInOwl:hasDbXref ICD10CM:Q13.4 semapv:UnspecifiedMatching +DOID:0060673 Peters anomaly oboInOwl:hasDbXref MESH:C537884 semapv:UnspecifiedMatching +DOID:0060673 Peters anomaly oboInOwl:hasDbXref OMIM:604229 semapv:UnspecifiedMatching +DOID:0060673 Peters anomaly oboInOwl:hasDbXref ORDO:708 semapv:UnspecifiedMatching DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref OMIMPS:604772 semapv:UnspecifiedMatching -DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ORDO:3286 semapv:UnspecifiedMatching DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching -DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching +DOID:0060674 catecholaminergic polymorphic ventricular tachycardia oboInOwl:hasDbXref ORDO:3286 semapv:UnspecifiedMatching DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref OMIM:604772 semapv:UnspecifiedMatching -DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching +DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching +DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 oboInOwl:hasDbXref OMIM:611938 semapv:UnspecifiedMatching +DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching DOID:0060677 catecholaminergic polymorphic ventricular tachycardia 3 oboInOwl:hasDbXref OMIM:614021 semapv:UnspecifiedMatching DOID:0060678 catecholaminergic polymorphic ventricular tachycardia 4 oboInOwl:hasDbXref ICD10CM:I47.2 semapv:UnspecifiedMatching @@ -3121,29 +3121,29 @@ DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 oboInOwl:ha DOID:0060679 catecholaminergic polymorphic ventricular tachycardia 5 oboInOwl:hasDbXref OMIM:615441 semapv:UnspecifiedMatching DOID:0060680 pigment dispersion syndrome oboInOwl:hasDbXref MESH:C563184 semapv:UnspecifiedMatching DOID:0060680 pigment dispersion syndrome oboInOwl:hasDbXref OMIM:600510 semapv:UnspecifiedMatching -DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ORDO:98784 semapv:UnspecifiedMatching -DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIMPS:600513 semapv:UnspecifiedMatching DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref GARD:11918 semapv:UnspecifiedMatching DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref MESH:C579932 semapv:UnspecifiedMatching +DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIMPS:600513 semapv:UnspecifiedMatching +DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref ORDO:98784 semapv:UnspecifiedMatching DOID:0060682 autosomal dominant nocturnal frontal lobe epilepsy 1 oboInOwl:hasDbXref OMIM:600513 semapv:UnspecifiedMatching DOID:0060683 autosomal dominant nocturnal frontal lobe epilepsy 2 oboInOwl:hasDbXref OMIM:603204 semapv:UnspecifiedMatching DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 oboInOwl:hasDbXref OMIM:605375 semapv:UnspecifiedMatching DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 oboInOwl:hasDbXref OMIM:610353 semapv:UnspecifiedMatching DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 oboInOwl:hasDbXref OMIM:615005 semapv:UnspecifiedMatching -DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref MESH:D002538 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref ICD10CM:Q28.2 semapv:UnspecifiedMatching +DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref MESH:D002538 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref OMIM:108010 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref ORDO:46724 semapv:UnspecifiedMatching DOID:0060688 arteriovenous malformations of the brain oboInOwl:hasDbXref UMLS_CUI:C0007772 semapv:UnspecifiedMatching -DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 semapv:UnspecifiedMatching -DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref ORDO:86819 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref ICD10CM:L65.8 semapv:UnspecifiedMatching DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref MESH:C565924 semapv:UnspecifiedMatching -DOID:0060690 autosomal dominant auditory neuropathy 1 oboInOwl:hasDbXref OMIM:609129 semapv:UnspecifiedMatching +DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref OMIM:209500 semapv:UnspecifiedMatching +DOID:0060689 atrichia with papular lesions oboInOwl:hasDbXref ORDO:86819 semapv:UnspecifiedMatching DOID:0060690 autosomal dominant auditory neuropathy 1 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching +DOID:0060690 autosomal dominant auditory neuropathy 1 oboInOwl:hasDbXref OMIM:609129 semapv:UnspecifiedMatching DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref OMIM:187800 semapv:UnspecifiedMatching DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref ORDO:140957 semapv:UnspecifiedMatching +DOID:0060691 platelet-type bleeding disorder 16 oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:0060692 platelet-type bleeding disorder 8 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching DOID:0060692 platelet-type bleeding disorder 8 oboInOwl:hasDbXref OMIM:609821 semapv:UnspecifiedMatching DOID:0060692 platelet-type bleeding disorder 8 oboInOwl:hasDbXref ORDO:36355 semapv:UnspecifiedMatching @@ -3157,8 +3157,8 @@ DOID:0060694 Cayman type cerebellar ataxia oboInOwl:hasDbXref OMIM:601238 semapv DOID:0060694 Cayman type cerebellar ataxia oboInOwl:hasDbXref ORDO:94122 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref OMIMPS:149400 semapv:UnspecifiedMatching -DOID:0060695 hyperekplexia oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching DOID:0060695 hyperekplexia oboInOwl:hasDbXref MESH:D000071017 semapv:UnspecifiedMatching +DOID:0060695 hyperekplexia oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref MESH:D000071017 semapv:UnspecifiedMatching DOID:0060696 hyperekplexia 1 oboInOwl:hasDbXref OMIM:149400 semapv:UnspecifiedMatching @@ -3169,13 +3169,13 @@ DOID:0060697 hyperekplexia 2 oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatc DOID:0060698 hyperekplexia 3 oboInOwl:hasDbXref ICD10CM:G25.8 semapv:UnspecifiedMatching DOID:0060698 hyperekplexia 3 oboInOwl:hasDbXref OMIM:614618 semapv:UnspecifiedMatching DOID:0060698 hyperekplexia 3 oboInOwl:hasDbXref ORDO:3197 semapv:UnspecifiedMatching -DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ORDO:405 semapv:UnspecifiedMatching DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref OMIMPS:145980 semapv:UnspecifiedMatching -DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching +DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ORDO:405 semapv:UnspecifiedMatching DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref GARD:10828 semapv:UnspecifiedMatching -DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching +DOID:0060699 familial hypocalciuric hypercalcemia oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref OMIM:145980 semapv:UnspecifiedMatching DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref ORDO:93372 semapv:UnspecifiedMatching +DOID:0060700 familial hypocalciuric hypercalcemia 1 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref GARD:9758 semapv:UnspecifiedMatching DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching DOID:0060701 familial hypocalciuric hypercalcemia 2 oboInOwl:hasDbXref OMIM:145981 semapv:UnspecifiedMatching @@ -3184,14 +3184,14 @@ DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref GARD:2878 DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref OMIM:600740 semapv:UnspecifiedMatching DOID:0060702 familial hypocalciuric hypercalcemia 3 oboInOwl:hasDbXref ORDO:101050 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref UMLS_CUI:C1864436 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref ORDO:53271 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching -DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref MESH:C537369 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref GARD:7097 semapv:UnspecifiedMatching +DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref MESH:C537369 semapv:UnspecifiedMatching DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref NCI:C84904 semapv:UnspecifiedMatching -DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref OMIMPS:308240 semapv:UnspecifiedMatching +DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref OMIM:602849 semapv:UnspecifiedMatching +DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref ORDO:53271 semapv:UnspecifiedMatching +DOID:0060703 Muenke Syndrome oboInOwl:hasDbXref UMLS_CUI:C1864436 semapv:UnspecifiedMatching DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:538963 semapv:UnspecifiedMatching +DOID:0060704 lymphoproliferative syndrome oboInOwl:hasDbXref OMIMPS:308240 semapv:UnspecifiedMatching DOID:0060705 X-linked lymphoproliferative syndrome 1 oboInOwl:hasDbXref GARD:7906 semapv:UnspecifiedMatching DOID:0060705 X-linked lymphoproliferative syndrome 1 oboInOwl:hasDbXref ICD10CM:D82.3 semapv:UnspecifiedMatching DOID:0060705 X-linked lymphoproliferative syndrome 1 oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching @@ -3200,14 +3200,14 @@ DOID:0060706 X-linked lymphoproliferative syndrome 2 oboInOwl:hasDbXref ICD10CM: DOID:0060706 X-linked lymphoproliferative syndrome 2 oboInOwl:hasDbXref OMIM:300635 semapv:UnspecifiedMatching DOID:0060707 lymphoproliferative syndrome 1 oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching DOID:0060707 lymphoproliferative syndrome 1 oboInOwl:hasDbXref OMIM:613011 semapv:UnspecifiedMatching -DOID:0060708 lymphoproliferative syndrome 2 oboInOwl:hasDbXref OMIM:615122 semapv:UnspecifiedMatching DOID:0060708 lymphoproliferative syndrome 2 oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching -DOID:0060710 autosomal recessive congenital ichthyosis 2 oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching +DOID:0060708 lymphoproliferative syndrome 2 oboInOwl:hasDbXref OMIM:615122 semapv:UnspecifiedMatching DOID:0060710 autosomal recessive congenital ichthyosis 2 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060711 autosomal recessive congenital ichthyosis 3 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching +DOID:0060710 autosomal recessive congenital ichthyosis 2 oboInOwl:hasDbXref OMIM:242100 semapv:UnspecifiedMatching DOID:0060711 autosomal recessive congenital ichthyosis 3 oboInOwl:hasDbXref OMIM:606545 semapv:UnspecifiedMatching -DOID:0060712 autosomal recessive congenital ichthyosis 4A oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching +DOID:0060711 autosomal recessive congenital ichthyosis 3 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060712 autosomal recessive congenital ichthyosis 4A oboInOwl:hasDbXref OMIM:601277 semapv:UnspecifiedMatching +DOID:0060712 autosomal recessive congenital ichthyosis 4A oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060713 autosomal recessive congenital ichthyosis 4B oboInOwl:hasDbXref ICD10CM:Q80.4 semapv:UnspecifiedMatching DOID:0060713 autosomal recessive congenital ichthyosis 4B oboInOwl:hasDbXref OMIM:242500 semapv:UnspecifiedMatching DOID:0060713 autosomal recessive congenital ichthyosis 4B oboInOwl:hasDbXref ORDO:457 semapv:UnspecifiedMatching @@ -3217,10 +3217,10 @@ DOID:0060715 autosomal recessive congenital ichthyosis 6 oboInOwl:hasDbXref ICD1 DOID:0060715 autosomal recessive congenital ichthyosis 6 oboInOwl:hasDbXref OMIM:612281 semapv:UnspecifiedMatching DOID:0060716 autosomal recessive congenital ichthyosis 7 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060716 autosomal recessive congenital ichthyosis 7 oboInOwl:hasDbXref OMIM:615022 semapv:UnspecifiedMatching -DOID:0060717 autosomal recessive congenital ichthyosis 8 oboInOwl:hasDbXref OMIM:613943 semapv:UnspecifiedMatching DOID:0060717 autosomal recessive congenital ichthyosis 8 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching -DOID:0060718 autosomal recessive congenital ichthyosis 9 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching +DOID:0060717 autosomal recessive congenital ichthyosis 8 oboInOwl:hasDbXref OMIM:613943 semapv:UnspecifiedMatching DOID:0060718 autosomal recessive congenital ichthyosis 9 oboInOwl:hasDbXref OMIM:615023 semapv:UnspecifiedMatching +DOID:0060718 autosomal recessive congenital ichthyosis 9 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060719 autosomal recessive congenital ichthyosis 10 oboInOwl:hasDbXref ICD10CM:Q80.2 semapv:UnspecifiedMatching DOID:0060719 autosomal recessive congenital ichthyosis 10 oboInOwl:hasDbXref OMIM:615024 semapv:UnspecifiedMatching DOID:0060720 autosomal recessive congenital ichthyosis 11 oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching @@ -3232,15 +3232,15 @@ DOID:0060728 NGLY1-deficiency oboInOwl:hasDbXref ORDO:404454 semapv:UnspecifiedM DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref OMIM:128100 semapv:UnspecifiedMatching DOID:0060730 torsion dystonia 1 oboInOwl:hasDbXref ORDO:256 semapv:UnspecifiedMatching -DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref ORDO:661 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:209880 semapv:UnspecifiedMatching -DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10CM:G47.3 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref MESH:C536209 semapv:UnspecifiedMatching +DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref ORDO:661 semapv:UnspecifiedMatching DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref GARD:8535 semapv:UnspecifiedMatching -DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching -DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref MESH:C538024 semapv:UnspecifiedMatching -DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref OMIM:158170 semapv:UnspecifiedMatching +DOID:0060731 congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10CM:G47.3 semapv:UnspecifiedMatching DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref ORDO:261112 semapv:UnspecifiedMatching +DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref OMIM:158170 semapv:UnspecifiedMatching +DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref MESH:C538024 semapv:UnspecifiedMatching +DOID:0060732 chromosome 9p deletion syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060733 junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ICD10CM:Q81.8 semapv:UnspecifiedMatching DOID:0060733 junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref OMIM:226730 semapv:UnspecifiedMatching DOID:0060733 junctional epidermolysis bullosa with pyloric atresia oboInOwl:hasDbXref ORDO:79403 semapv:UnspecifiedMatching @@ -3250,89 +3250,96 @@ DOID:0060735 epidermolysis bullosa simplex Dowling-Meara type oboInOwl:hasDbXref DOID:0060736 epidermolysis bullosa simplex Ogna type oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching DOID:0060736 epidermolysis bullosa simplex Ogna type oboInOwl:hasDbXref OMIM:131950 semapv:UnspecifiedMatching DOID:0060736 epidermolysis bullosa simplex Ogna type oboInOwl:hasDbXref ORDO:79401 semapv:UnspecifiedMatching -DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref ORDO:79404 semapv:UnspecifiedMatching DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref ICD10CM:Q81.1 semapv:UnspecifiedMatching DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref OMIM:226700 semapv:UnspecifiedMatching +DOID:0060737 junctional epidermolysis bullosa Herlitz type oboInOwl:hasDbXref ORDO:79404 semapv:UnspecifiedMatching +DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ORDO:89840 semapv:UnspecifiedMatching +DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ORDO:79402 semapv:UnspecifiedMatching DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ICD10CM:Q81.8 semapv:UnspecifiedMatching DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching -DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ORDO:79402 semapv:UnspecifiedMatching -DOID:0060738 junctional epidermolysis bullosa non-Herlitz type oboInOwl:hasDbXref ORDO:89840 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref GARD:2594 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref ICD10CM:Q51.2 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref OMIM:140000 semapv:UnspecifiedMatching DOID:0060739 hand-foot-genital syndrome oboInOwl:hasDbXref ORDO:2438 semapv:UnspecifiedMatching -DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref ORDO:27 semapv:UnspecifiedMatching DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref MESH:C565390 semapv:UnspecifiedMatching DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching +DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency oboInOwl:hasDbXref ORDO:27 semapv:UnspecifiedMatching DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect oboInOwl:hasDbXref ORDO:280183 semapv:UnspecifiedMatching DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0060741 methylmalonic acidemia due to transcobalamin receptor defect oboInOwl:hasDbXref OMIM:613646 semapv:UnspecifiedMatching -DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref ORDO:79310 semapv:UnspecifiedMatching +DOID:0060742 methylmalonic acidemia cblA type oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0060743 methylmalonic acidemia cblB type oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0060743 methylmalonic acidemia cblB type oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching DOID:0060743 methylmalonic acidemia cblB type oboInOwl:hasDbXref ORDO:79311 semapv:UnspecifiedMatching -DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref UMLS_CUI:C0271829 semapv:UnspecifiedMatching +DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref GARD:4271 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref ICD10CM:E07.1 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref MESH:C536648 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref NCI:C121745 semapv:UnspecifiedMatching -DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref OMIM:274600 semapv:UnspecifiedMatching DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref ORDO:705 semapv:UnspecifiedMatching +DOID:0060744 Pendred Syndrome oboInOwl:hasDbXref UMLS_CUI:C0271829 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref ORDO:75376 semapv:UnspecifiedMatching +DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref MESH:C535602 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref OMIM:126600 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref GARD:1912 semapv:UnspecifiedMatching DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0060745 Doyne honeycomb retinal dystrophy oboInOwl:hasDbXref MESH:C535602 semapv:UnspecifiedMatching +DOID:0060746 basal laminar drusen oboInOwl:hasDbXref ORDO:75376 semapv:UnspecifiedMatching +DOID:0060746 basal laminar drusen oboInOwl:hasDbXref OMIM:126700 semapv:UnspecifiedMatching DOID:0060746 basal laminar drusen oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0060746 basal laminar drusen oboInOwl:hasDbXref MESH:C563034 semapv:UnspecifiedMatching -DOID:0060746 basal laminar drusen oboInOwl:hasDbXref OMIM:126700 semapv:UnspecifiedMatching -DOID:0060746 basal laminar drusen oboInOwl:hasDbXref ORDO:75376 semapv:UnspecifiedMatching -DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref GARD:9182 semapv:UnspecifiedMatching DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching +DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref OMIM:607323 semapv:UnspecifiedMatching DOID:0060747 Duane-radial ray syndrome oboInOwl:hasDbXref ORDO:93293 semapv:UnspecifiedMatching DOID:0060748 familial temporal lobe epilepsy 1 oboInOwl:hasDbXref OMIM:600512 semapv:UnspecifiedMatching DOID:0060748 familial temporal lobe epilepsy 1 oboInOwl:hasDbXref ORDO:101046 semapv:UnspecifiedMatching -DOID:0060749 familial temporal lobe epilepsy 6 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching DOID:0060749 familial temporal lobe epilepsy 6 oboInOwl:hasDbXref OMIM:615697 semapv:UnspecifiedMatching +DOID:0060749 familial temporal lobe epilepsy 6 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching DOID:0060750 familial temporal lobe epilepsy 3 oboInOwl:hasDbXref OMIM:611630 semapv:UnspecifiedMatching DOID:0060750 familial temporal lobe epilepsy 3 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching -DOID:0060751 familial temporal lobe epilepsy 7 oboInOwl:hasDbXref OMIM:616436 semapv:UnspecifiedMatching DOID:0060751 familial temporal lobe epilepsy 7 oboInOwl:hasDbXref ORDO:101046 semapv:UnspecifiedMatching -DOID:0060752 familial temporal lobe epilepsy 5 oboInOwl:hasDbXref OMIM:614417 semapv:UnspecifiedMatching +DOID:0060751 familial temporal lobe epilepsy 7 oboInOwl:hasDbXref OMIM:616436 semapv:UnspecifiedMatching DOID:0060752 familial temporal lobe epilepsy 5 oboInOwl:hasDbXref ORDO:163717 semapv:UnspecifiedMatching +DOID:0060752 familial temporal lobe epilepsy 5 oboInOwl:hasDbXref OMIM:614417 semapv:UnspecifiedMatching DOID:0060753 familial temporal lobe epilepsy 4 oboInOwl:hasDbXref OMIM:611631 semapv:UnspecifiedMatching DOID:0060753 familial temporal lobe epilepsy 4 oboInOwl:hasDbXref ORDO:98819 semapv:UnspecifiedMatching DOID:0060754 familial temporal lobe epilepsy 8 oboInOwl:hasDbXref OMIM:616461 semapv:UnspecifiedMatching DOID:0060754 familial temporal lobe epilepsy 8 oboInOwl:hasDbXref ORDO:101046 semapv:UnspecifiedMatching DOID:0060755 familial temporal lobe epilepsy 2 oboInOwl:hasDbXref OMIM:608096 semapv:UnspecifiedMatching DOID:0060755 familial temporal lobe epilepsy 2 oboInOwl:hasDbXref ORDO:98819 semapv:UnspecifiedMatching -DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching -DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref OMIM:269500 semapv:UnspecifiedMatching DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref ICD10CM:M85.2 semapv:UnspecifiedMatching +DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref OMIM:269500 semapv:UnspecifiedMatching +DOID:0060756 sclerosteosis 1 oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching DOID:0060757 sclerosteosis 2 oboInOwl:hasDbXref ICD10CM:M85.2 semapv:UnspecifiedMatching DOID:0060757 sclerosteosis 2 oboInOwl:hasDbXref OMIM:614305 semapv:UnspecifiedMatching DOID:0060757 sclerosteosis 2 oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching +DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref ORDO:183666 semapv:UnspecifiedMatching +DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref ORDO:101089 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref ICD10CM:D80.5 semapv:UnspecifiedMatching DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref OMIM:605258 semapv:UnspecifiedMatching -DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref ORDO:101089 semapv:UnspecifiedMatching -DOID:0060758 immunodeficiency with hyper-IgM type 2 oboInOwl:hasDbXref ORDO:183666 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref ICD10CM:D80.5 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref ORDO:101092 semapv:UnspecifiedMatching DOID:0060759 immunodeficiency with hyper IgM type 5 oboInOwl:hasDbXref ORDO:183666 semapv:UnspecifiedMatching -DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref ORDO:183666 semapv:UnspecifiedMatching -DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref ORDO:101091 semapv:UnspecifiedMatching -DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref ICD10CM:D80.5 semapv:UnspecifiedMatching +DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref OMIM:608184 semapv:UnspecifiedMatching +DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref ORDO:101091 semapv:UnspecifiedMatching +DOID:0060760 immunodeficiency with hyper-IgM type 4 oboInOwl:hasDbXref ORDO:183666 semapv:UnspecifiedMatching DOID:0060761 familial chronic myelocytic leukemia-like syndrome oboInOwl:hasDbXref OMIM:600080 semapv:UnspecifiedMatching -DOID:0060762 lethal restrictive dermopathy oboInOwl:hasDbXref MESH:C536920 semapv:UnspecifiedMatching -DOID:0060762 lethal restrictive dermopathy oboInOwl:hasDbXref OMIM:275210 semapv:UnspecifiedMatching -DOID:0060762 lethal restrictive dermopathy oboInOwl:hasDbXref ORDO:1662 semapv:UnspecifiedMatching -DOID:0060762 lethal restrictive dermopathy oboInOwl:hasDbXref UMLS_CUI:C0406585 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch OMIM:PS275210 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch UMLS_CUI:C0406585 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch SNOMEDCT_US_2023_02_28:400128006 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch ORDO:1662 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch MESH:C536920 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref UMLS_CUI:C0406585 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref ORDO:1662 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref OMIMPS:275210 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref MESH:C536920 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy oboInOwl:hasDbXref GARD:1516 semapv:UnspecifiedMatching +DOID:0060762 restrictive dermopathy skos:exactMatch GARD:1516 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref ICD10CM:Q14.1 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref OMIM:312700 semapv:UnspecifiedMatching DOID:0060763 X-linked juvenile retinoschisis 1 oboInOwl:hasDbXref ORDO:792 semapv:UnspecifiedMatching @@ -3340,19 +3347,19 @@ DOID:0060764 autosomal recessive Robinow syndrome oboInOwl:hasDbXref OMIM:268310 DOID:0060764 autosomal recessive Robinow syndrome oboInOwl:hasDbXref ORDO:1507 semapv:UnspecifiedMatching DOID:0060765 autosomal dominant Robinow syndrome 2 oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching DOID:0060765 autosomal dominant Robinow syndrome 2 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching -DOID:0060766 autosomal dominant Robinow syndrome 1 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching DOID:0060766 autosomal dominant Robinow syndrome 1 oboInOwl:hasDbXref OMIM:180700 semapv:UnspecifiedMatching +DOID:0060766 autosomal dominant Robinow syndrome 1 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching +DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref ORDO:3107 semapv:UnspecifiedMatching -DOID:0060767 autosomal dominant Robinow syndrome 3 oboInOwl:hasDbXref ORDO:97360 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref GARD:8197 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref ICD10CM:Q93.5 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref MESH:D058496 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref OMIM:182290 semapv:UnspecifiedMatching DOID:0060768 Smith-Magenis syndrome oboInOwl:hasDbXref ORDO:819 semapv:UnspecifiedMatching +DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref MESH:C536781 semapv:UnspecifiedMatching -DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching DOID:0060769 T-cell immunodeficiency, congenital alopecia, and nail dystrophy oboInOwl:hasDbXref ORDO:169095 semapv:UnspecifiedMatching DOID:0060770 dextro-looped transposition of the great arteries oboInOwl:hasDbXref OMIM:608808 semapv:UnspecifiedMatching DOID:0060770 dextro-looped transposition of the great arteries oboInOwl:hasDbXref ICD10CM:Q20.3 semapv:UnspecifiedMatching @@ -3453,10 +3460,10 @@ DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref MESH:C537451 semapv:UnspecifiedMa DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref OMIM:300148 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref ORDO:85282 semapv:UnspecifiedMatching DOID:0060801 MEHMO syndrome oboInOwl:hasDbXref UMLS_CUI:C1846278 semapv:UnspecifiedMatching +DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref OMIM:309583 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref ORDO:3063 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref GARD:5615 semapv:UnspecifiedMatching -DOID:0060802 syndromic X-linked intellectual disability Snyder type oboInOwl:hasDbXref OMIM:309583 semapv:UnspecifiedMatching DOID:0060803 syndromic X-linked intellectual disability 17 oboInOwl:hasDbXref OMIM:300858 semapv:UnspecifiedMatching DOID:0060803 syndromic X-linked intellectual disability 17 oboInOwl:hasDbXref ORDO:289483 semapv:UnspecifiedMatching DOID:0060804 syndromic X-linked intellectual disability 12 oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching @@ -3467,28 +3474,28 @@ DOID:0060805 Prieto syndrome oboInOwl:hasDbXref ORDO:2958 semapv:UnspecifiedMatc DOID:0060806 syndromic X-linked intellectual disability Hedera type oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching DOID:0060806 syndromic X-linked intellectual disability Hedera type oboInOwl:hasDbXref ORDO:93952 semapv:UnspecifiedMatching DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref OMIM:300749 semapv:UnspecifiedMatching -DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref GARD:12669 semapv:UnspecifiedMatching -DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref ORDO:163937 semapv:UnspecifiedMatching -DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS_CUI:C1846170 semapv:UnspecifiedMatching -DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ORDO:85274 semapv:UnspecifiedMatching +DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching +DOID:0060807 syndromic X-linked intellectual disability Najm type oboInOwl:hasDbXref GARD:12669 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref GARD:9156 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref MESH:C537449 semapv:UnspecifiedMatching DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref OMIM:300218 semapv:UnspecifiedMatching +DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref ORDO:85274 semapv:UnspecifiedMatching +DOID:0060808 syndromic X-linked intellectual disability 7 oboInOwl:hasDbXref UMLS_CUI:C1846170 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref OMIM:300534 semapv:UnspecifiedMatching DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type oboInOwl:hasDbXref ORDO:85279 semapv:UnspecifiedMatching +DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref ORDO:85295 semapv:UnspecifiedMatching DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref ICD10CM:G25.5 semapv:UnspecifiedMatching -DOID:0060810 syndromic X-linked intellectual disability type 10 oboInOwl:hasDbXref OMIM:300438 semapv:UnspecifiedMatching -DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ORDO:3056 semapv:UnspecifiedMatching -DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ORDO:85328 semapv:UnspecifiedMatching -DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref UMLS_CUI:C1846055 semapv:UnspecifiedMatching +DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching +DOID:0060811 syndromic X-linked intellectual disability Turner type oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref ORDO:85287 semapv:UnspecifiedMatching -DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref OMIM:300263 semapv:UnspecifiedMatching +DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref UMLS_CUI:C1846055 semapv:UnspecifiedMatching DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref MESH:C537333 semapv:UnspecifiedMatching +DOID:0060812 syndromic X-linked intellectual disability Siderius type oboInOwl:hasDbXref OMIM:300263 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref OMIM:300709 semapv:UnspecifiedMatching DOID:0060813 syndromic X-linked intellectual disability Shrimpton type oboInOwl:hasDbXref ORDO:85324 semapv:UnspecifiedMatching @@ -3511,11 +3518,11 @@ DOID:0060819 syndromic X-linked intellectual disability Chudley-Schwartz type ob DOID:0060820 syndromic X-linked intellectual disability Nascimento type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060820 syndromic X-linked intellectual disability Nascimento type oboInOwl:hasDbXref OMIM:300860 semapv:UnspecifiedMatching DOID:0060820 syndromic X-linked intellectual disability Nascimento type oboInOwl:hasDbXref ORDO:163956 semapv:UnspecifiedMatching -DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref UMLS_CUI:C0796022 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref MESH:C537724 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref OMIM:300676 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ORDO:323 semapv:UnspecifiedMatching DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref ORDO:776 semapv:UnspecifiedMatching +DOID:0060821 syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref UMLS_CUI:C0796022 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref ORDO:85293 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching DOID:0060822 syndromic X-linked intellectual disability Cabezas type oboInOwl:hasDbXref GARD:13244 semapv:UnspecifiedMatching @@ -3526,13 +3533,13 @@ DOID:0060823 syndromic X-linked intellectual disability 94 oboInOwl:hasDbXref OR DOID:0060824 syndromic X-linked intellectual disability Raymond type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060824 syndromic X-linked intellectual disability Raymond type oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching DOID:0060824 syndromic X-linked intellectual disability Raymond type oboInOwl:hasDbXref ORDO:163953 semapv:UnspecifiedMatching -DOID:0060825 Christianson syndrome skos:exactMatch MESH:C537450 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref GARD:10572 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref MESH:C537450 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref OMIM:300243 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref ORDO:85278 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome oboInOwl:hasDbXref UMLS_CUI:C1846130 semapv:UnspecifiedMatching DOID:0060825 Christianson syndrome skos:broadMatch MESH:C567484 semapv:UnspecifiedMatching +DOID:0060825 Christianson syndrome skos:exactMatch MESH:C537450 semapv:UnspecifiedMatching DOID:0060826 syndromic X-linked intellectual disability Shashi type oboInOwl:hasDbXref ORDO:85286 semapv:UnspecifiedMatching DOID:0060826 syndromic X-linked intellectual disability Shashi type oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060826 syndromic X-linked intellectual disability Shashi type oboInOwl:hasDbXref OMIM:300238 semapv:UnspecifiedMatching @@ -3544,15 +3551,15 @@ DOID:0060828 X-linked intellectual disability-cardiomegaly-congestive heart fail DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome oboInOwl:hasDbXref OMIM:300519 semapv:UnspecifiedMatching DOID:0060830 deafness-intellectual disability, Martin-Probst type syndrome oboInOwl:hasDbXref ORDO:85321 semapv:UnspecifiedMatching -DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref OMIMPS:214450 semapv:UnspecifiedMatching DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref GARD:10913 semapv:UnspecifiedMatching DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching +DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref OMIMPS:214450 semapv:UnspecifiedMatching DOID:0060831 Griscelli syndrome oboInOwl:hasDbXref ORDO:381 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C1859194 semapv:UnspecifiedMatching -DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref ORDO:79476 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref OMIM:214450 semapv:UnspecifiedMatching -DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching +DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref ORDO:79476 semapv:UnspecifiedMatching DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref GARD:2566 semapv:UnspecifiedMatching +DOID:0060832 Griscelli syndrome type 1 oboInOwl:hasDbXref MESH:C537301 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref GARD:4483 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref MESH:C537302 semapv:UnspecifiedMatching DOID:0060833 Griscelli syndrome type 2 oboInOwl:hasDbXref NCI:C111814 semapv:UnspecifiedMatching @@ -3564,8 +3571,8 @@ DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref MESH:C537303 semapv:Un DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref OMIM:609227 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref ORDO:79478 semapv:UnspecifiedMatching DOID:0060834 Griscelli syndrome type 3 oboInOwl:hasDbXref UMLS_CUI:C1836573 semapv:UnspecifiedMatching -DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref OMIM:613517 semapv:UnspecifiedMatching +DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching DOID:0060835 isolated microphthalmia 6 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060836 isolated microphthalmia 4 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060836 isolated microphthalmia 4 oboInOwl:hasDbXref OMIM:613094 semapv:UnspecifiedMatching @@ -3573,18 +3580,18 @@ DOID:0060836 isolated microphthalmia 4 oboInOwl:hasDbXref ORDO:2542 semapv:Unspe DOID:0060837 isolated microphthalmia 5 oboInOwl:hasDbXref ICD10CM:Q15.8 semapv:UnspecifiedMatching DOID:0060837 isolated microphthalmia 5 oboInOwl:hasDbXref OMIM:611040 semapv:UnspecifiedMatching DOID:0060837 isolated microphthalmia 5 oboInOwl:hasDbXref ORDO:251279 semapv:UnspecifiedMatching -DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref OMIM:613704 semapv:UnspecifiedMatching DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching +DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref OMIM:613704 semapv:UnspecifiedMatching +DOID:0060838 isolated microphthalmia 7 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060839 isolated microphthalmia 2 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060839 isolated microphthalmia 2 oboInOwl:hasDbXref OMIM:610093 semapv:UnspecifiedMatching DOID:0060839 isolated microphthalmia 2 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching +DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref OMIM:251600 semapv:UnspecifiedMatching DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching -DOID:0060840 isolated microphthalmia 1 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching -DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref OMIM:615113 semapv:UnspecifiedMatching DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching +DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref OMIM:615113 semapv:UnspecifiedMatching +DOID:0060841 isolated microphthalmia 8 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060842 isolated microphthalmia 3 oboInOwl:hasDbXref ICD10CM:Q11.0 semapv:UnspecifiedMatching DOID:0060842 isolated microphthalmia 3 oboInOwl:hasDbXref OMIM:611038 semapv:UnspecifiedMatching DOID:0060842 isolated microphthalmia 3 oboInOwl:hasDbXref ORDO:2542 semapv:UnspecifiedMatching @@ -3592,31 +3599,31 @@ DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:h DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref OMIM:162500 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref ORDO:640 semapv:UnspecifiedMatching DOID:0060843 hereditary neuropathy with liability to pressure palsies oboInOwl:hasDbXref UMLS_CUI:C0393814 semapv:UnspecifiedMatching +DOID:0060844 Norrie disease oboInOwl:hasDbXref GARD:7224 semapv:UnspecifiedMatching +DOID:0060844 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching +DOID:0060844 Norrie disease oboInOwl:hasDbXref NCI:C118634 semapv:UnspecifiedMatching +DOID:0060844 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref ORDO:649 semapv:UnspecifiedMatching DOID:0060844 Norrie disease oboInOwl:hasDbXref UMLS_CUI:C0266526 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease oboInOwl:hasDbXref NCI:C118634 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching -DOID:0060844 Norrie disease oboInOwl:hasDbXref GARD:7224 semapv:UnspecifiedMatching -DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref GARD:3224 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref MESH:C537119 semapv:UnspecifiedMatching +DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS_CUI:C0265309 semapv:UnspecifiedMatching +DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref ORDO:240 semapv:UnspecifiedMatching +DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref GARD:3224 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref NCI:C126560 semapv:UnspecifiedMatching DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref OMIM:127300 semapv:UnspecifiedMatching -DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref ORDO:240 semapv:UnspecifiedMatching -DOID:0060847 Leri-Weill dyschondrosteosis oboInOwl:hasDbXref UMLS_CUI:C0265309 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref GARD:10806 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref OMIM:300088 semapv:UnspecifiedMatching DOID:0060848 developmental and epileptic encephalopathy 9 oboInOwl:hasDbXref ORDO:101039 semapv:UnspecifiedMatching -DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching -DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref NCI:C130998 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref ORDO:2788 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref GARD:4160 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref MESH:C536063 semapv:UnspecifiedMatching +DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref NCI:C130998 semapv:UnspecifiedMatching +DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref OMIM:259770 semapv:UnspecifiedMatching DOID:0060849 osteoporosis-pseudoglioma syndrome oboInOwl:hasDbXref UMLS_CUI:C0432252 semapv:UnspecifiedMatching -DOID:0060850 annular pancreas oboInOwl:hasDbXref UMLS_CUI:C0149955 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref ORDO:675 semapv:UnspecifiedMatching -DOID:0060850 annular pancreas oboInOwl:hasDbXref NCI:C98813 semapv:UnspecifiedMatching +DOID:0060850 annular pancreas oboInOwl:hasDbXref UMLS_CUI:C0149955 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching +DOID:0060850 annular pancreas oboInOwl:hasDbXref NCI:C98813 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref ICD10CM:Q45.1 semapv:UnspecifiedMatching DOID:0060850 annular pancreas oboInOwl:hasDbXref GARD:705 semapv:UnspecifiedMatching @@ -3647,10 +3654,10 @@ DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXr DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:756 semapv:UnspecifiedMatching DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS_CUI:C0268436 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref UMLS_CUI:C1449843 semapv:UnspecifiedMatching +DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref ORDO:756 semapv:UnspecifiedMatching -DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref GARD:9145 semapv:UnspecifiedMatching -DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref OMIM:177735 semapv:UnspecifiedMatching +DOID:0060855 autosomal dominant pseudohypoaldosteronism type 1 oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref ICD10CM:Q20.6 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching DOID:0060856 right atrial isomerism oboInOwl:hasDbXref ORDO:97548 semapv:UnspecifiedMatching @@ -3660,12 +3667,12 @@ DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref NCI:C85063 semapv:Unspecifi DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref OMIM:182230 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref ORDO:3157 semapv:UnspecifiedMatching DOID:0060857 septooptic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0338503 semapv:UnspecifiedMatching -DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref ORDO:163690 semapv:UnspecifiedMatching -DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10CM:E72.0 semapv:UnspecifiedMatching DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref MESH:C564710 semapv:UnspecifiedMatching -DOID:0060859 salmonellosis oboInOwl:hasDbXref ICD10CM:A02.0 semapv:UnspecifiedMatching +DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref OMIM:606407 semapv:UnspecifiedMatching +DOID:0060858 hypotonia-cystinuria syndrome oboInOwl:hasDbXref ORDO:163690 semapv:UnspecifiedMatching DOID:0060859 salmonellosis oboInOwl:hasDbXref ICD9CM:003.0 semapv:UnspecifiedMatching +DOID:0060859 salmonellosis oboInOwl:hasDbXref ICD10CM:A02.0 semapv:UnspecifiedMatching DOID:0060861 microphthalmia with limb anomalies oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:0060861 microphthalmia with limb anomalies oboInOwl:hasDbXref OMIM:206920 semapv:UnspecifiedMatching DOID:0060861 microphthalmia with limb anomalies oboInOwl:hasDbXref ORDO:1106 semapv:UnspecifiedMatching @@ -3678,9 +3685,9 @@ DOID:0060863 patterned macular dystrophy oboInOwl:hasDbXref ORDO:99001 semapv:Un DOID:0060864 patterned macular dystrophy 2 oboInOwl:hasDbXref OMIM:608970 semapv:UnspecifiedMatching DOID:0060865 patterned macular dystrophy 3 oboInOwl:hasDbXref OMIM:617111 semapv:UnspecifiedMatching DOID:0060866 patterned macular dystrophy 1 oboInOwl:hasDbXref OMIM:169150 semapv:UnspecifiedMatching -DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref ORDO:210548 semapv:UnspecifiedMatching DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref MESH:C565342 semapv:UnspecifiedMatching DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref OMIM:605309 semapv:UnspecifiedMatching +DOID:0060867 macrocephaly-autism syndrome oboInOwl:hasDbXref ORDO:210548 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref ORDO:135 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref OMIM:603896 semapv:UnspecifiedMatching DOID:0060868 leukoencephalopathy with vanishing white matter oboInOwl:hasDbXref GARD:231 semapv:UnspecifiedMatching @@ -3689,61 +3696,61 @@ DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref GARD:4357 semapv DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref MESH:C565309 semapv:UnspecifiedMatching DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref OMIM:605670 semapv:UnspecifiedMatching DOID:0060869 late-onset retinal degeneration oboInOwl:hasDbXref ORDO:67042 semapv:UnspecifiedMatching +DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref MESH:D004393 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref GARD:12556 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ICD9CM:253.3 semapv:UnspecifiedMatching -DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref MESH:D004393 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref NCI:C34555 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref ORDO:631 semapv:UnspecifiedMatching DOID:0060870 isolated growth hormone deficiency oboInOwl:hasDbXref UMLS_CUI:C0013338 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref OMIM:148210 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref ORDO:477 semapv:UnspecifiedMatching DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome oboInOwl:hasDbXref ICD10CM:Q80.8 semapv:UnspecifiedMatching +DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref ORDO:231679 semapv:UnspecifiedMatching +DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref MESH:C562704 semapv:UnspecifiedMatching -DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref OMIM:173100 semapv:UnspecifiedMatching -DOID:0060872 isolated growth hormone deficiency type II oboInOwl:hasDbXref ORDO:231679 semapv:UnspecifiedMatching DOID:0060873 isolated growth hormone deficiency type IA oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060873 isolated growth hormone deficiency type IA oboInOwl:hasDbXref OMIM:262400 semapv:UnspecifiedMatching DOID:0060873 isolated growth hormone deficiency type IA oboInOwl:hasDbXref ORDO:231662 semapv:UnspecifiedMatching DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching DOID:0060874 isolated growth hormone deficiency type IB oboInOwl:hasDbXref ORDO:231671 semapv:UnspecifiedMatching -DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref ORDO:231692 semapv:UnspecifiedMatching DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref OMIM:307200 semapv:UnspecifiedMatching -DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref GARD:3921 semapv:UnspecifiedMatching -DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref GARD:2966 semapv:UnspecifiedMatching +DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching +DOID:0060875 isolated growth hormone deficiency type III oboInOwl:hasDbXref ORDO:231692 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref MESH:D053560 semapv:UnspecifiedMatching +DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS_CUI:C0432306 semapv:UnspecifiedMatching +DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref ORDO:455 semapv:UnspecifiedMatching +DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref GARD:2966 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref NCI:C84777 semapv:UnspecifiedMatching DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref OMIM:146800 semapv:UnspecifiedMatching -DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref ORDO:455 semapv:UnspecifiedMatching -DOID:0060877 bullous congenital ichthyosiform erythroderma oboInOwl:hasDbXref UMLS_CUI:C0432306 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref MESH:C537907 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref NCI:C130983 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref OMIM:146255 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref ORDO:2237 semapv:UnspecifiedMatching DOID:0060878 hypoparathyroidism-deafness-renal disease syndrome oboInOwl:hasDbXref UMLS_CUI:C1840333 semapv:UnspecifiedMatching -DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref ORDO:34526 semapv:UnspecifiedMatching DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref OMIMPS:602014 semapv:UnspecifiedMatching +DOID:0060879 primary hypomagnesemia oboInOwl:hasDbXref ORDO:34526 semapv:UnspecifiedMatching DOID:0060880 renal hypomagnesemia 3 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060880 renal hypomagnesemia 3 oboInOwl:hasDbXref OMIM:248250 semapv:UnspecifiedMatching DOID:0060880 renal hypomagnesemia 3 oboInOwl:hasDbXref ORDO:31043 semapv:UnspecifiedMatching +DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref UMLS_CUI:C2931121 semapv:UnspecifiedMatching +DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref ORDO:2196 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref MESH:C536148 semapv:UnspecifiedMatching DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref OMIM:248190 semapv:UnspecifiedMatching -DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref ORDO:2196 semapv:UnspecifiedMatching -DOID:0060881 renal hypomagnesemia 5 with ocular involvement oboInOwl:hasDbXref UMLS_CUI:C2931121 semapv:UnspecifiedMatching -DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref ORDO:34527 semapv:UnspecifiedMatching DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref OMIM:611718 semapv:UnspecifiedMatching +DOID:0060882 renal hypomagnesemia 4 oboInOwl:hasDbXref ORDO:34527 semapv:UnspecifiedMatching +DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref OMIM:602014 semapv:UnspecifiedMatching DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref ORDO:30924 semapv:UnspecifiedMatching -DOID:0060883 intestinal hypomagnesemia 1 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref OMIM:613882 semapv:UnspecifiedMatching -DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref ORDO:34527 semapv:UnspecifiedMatching DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref GARD:12155 semapv:UnspecifiedMatching DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref ICD10CM:E83.4 semapv:UnspecifiedMatching +DOID:0060884 renal hypomagnesemia 6 oboInOwl:hasDbXref ORDO:34527 semapv:UnspecifiedMatching DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref ORDO:34528 semapv:UnspecifiedMatching DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref OMIM:154020 semapv:UnspecifiedMatching DOID:0060885 renal hypomagnesemia 2 oboInOwl:hasDbXref GARD:3350 semapv:UnspecifiedMatching @@ -3806,8 +3813,8 @@ DOID:0070000 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 s DOID:0070002 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching DOID:0070005 Seckel syndrome 9 oboInOwl:hasDbXref OMIM:616777 semapv:UnspecifiedMatching DOID:0070006 Seckel syndrome 6 oboInOwl:hasDbXref OMIM:614728 semapv:UnspecifiedMatching -DOID:0070007 Seckel syndrome 1 oboInOwl:hasDbXref MESH:C537533 semapv:UnspecifiedMatching DOID:0070007 Seckel syndrome 1 oboInOwl:hasDbXref OMIM:210600 semapv:UnspecifiedMatching +DOID:0070007 Seckel syndrome 1 oboInOwl:hasDbXref MESH:C537533 semapv:UnspecifiedMatching DOID:0070008 Seckel syndrome 10 oboInOwl:hasDbXref OMIM:617253 semapv:UnspecifiedMatching DOID:0070009 Seckel syndrome 8 oboInOwl:hasDbXref OMIM:615807 semapv:UnspecifiedMatching DOID:0070010 Seckel syndrome 4 oboInOwl:hasDbXref OMIM:613676 semapv:UnspecifiedMatching @@ -3993,14 +4000,14 @@ DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref MESH:C5626 DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref ORDO:90439 semapv:UnspecifiedMatching DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref UMLS_CUI:C0268351 semapv:UnspecifiedMatching DOID:0070144 autosomal recessive cutis laxa type I oboInOwl:hasDbXref UMLS_CUI:C0432336 semapv:UnspecifiedMatching +DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ORDO:608654 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS_CUI:C0002768 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS_CUI:C0020075 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref OMIM:608654 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref ORDO:608654 semapv:UnspecifiedMatching +DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref UMLS_CUI:C0020075 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching -DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref NCI:C156360 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref MESH:D000699 semapv:UnspecifiedMatching DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref GARD:12328 semapv:UnspecifiedMatching +DOID:0070145 hereditary sensory and autonomic neuropathy type 5 oboInOwl:hasDbXref NCI:C156360 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref UMLS_CUI:C0020074 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 semapv:UnspecifiedMatching DOID:0070146 hereditary sensory neuropathy type 4 oboInOwl:hasDbXref ORDO:642 semapv:UnspecifiedMatching @@ -4029,8 +4036,8 @@ DOID:0070156 hereditary sensory neuropathy type 1D oboInOwl:hasDbXref OMIM:61370 DOID:0070157 hereditary sensory and autonomic neuropathy type 1C oboInOwl:hasDbXref OMIM:613640 semapv:UnspecifiedMatching DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref ORDO:456318 semapv:UnspecifiedMatching DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref OMIM:614116 semapv:UnspecifiedMatching -DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref ICD10CM:G60.8 semapv:UnspecifiedMatching DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref GARD:11927 semapv:UnspecifiedMatching +DOID:0070158 hereditary sensory neuropathy type 1E oboInOwl:hasDbXref ICD10CM:G60.8 semapv:UnspecifiedMatching DOID:0070159 hereditary sensory neuropathy X-linked oboInOwl:hasDbXref OMIM:310470 semapv:UnspecifiedMatching DOID:0070160 atypical hereditary sensory neuropathy oboInOwl:hasDbXref OMIM:256860 semapv:UnspecifiedMatching DOID:0070161 hereditary sensory and autonomic neuropathy type 2 oboInOwl:hasDbXref GARD:3976 semapv:UnspecifiedMatching @@ -4077,63 +4084,63 @@ DOID:0070187 Y-linked spermatogenic failure 2 oboInOwl:hasDbXref MESH:C564030 se DOID:0070187 Y-linked spermatogenic failure 2 oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching DOID:0070188 spermatogenic failure 1 oboInOwl:hasDbXref OMIM:258150 semapv:UnspecifiedMatching DOID:0070189 X-linked spermatogenic failure 1 oboInOwl:hasDbXref OMIM:305700 semapv:UnspecifiedMatching -DOID:0070191 autosomal recessive chronic granulomatous disease cytochrome b-positive type II oboInOwl:hasDbXref OMIM:233710 semapv:UnspecifiedMatching -DOID:0070192 autosomal recessive chronic granulomatous disease cytochrome b-positive type I oboInOwl:hasDbXref OMIM:233700 semapv:UnspecifiedMatching -DOID:0070193 autosomal recessive chronic granulomatous disease cytochrome b-negative oboInOwl:hasDbXref OMIM:233690 semapv:UnspecifiedMatching -DOID:0070194 autosomal recessive chronic granulomatous disease cytochrome b-positive type III oboInOwl:hasDbXref OMIM:613960 semapv:UnspecifiedMatching +DOID:0070191 autosomal recessive chronic granulomatous disease 2 oboInOwl:hasDbXref OMIM:233710 semapv:UnspecifiedMatching +DOID:0070192 autosomal recessive chronic granulomatous disease 1 oboInOwl:hasDbXref OMIM:233700 semapv:UnspecifiedMatching +DOID:0070193 autosomal recessive chronic granulomatous disease 4 oboInOwl:hasDbXref OMIM:233690 semapv:UnspecifiedMatching +DOID:0070194 autosomal recessive chronic granulomatous disease 3 oboInOwl:hasDbXref OMIM:613960 semapv:UnspecifiedMatching DOID:0070195 X-linked chronic granulomatous disease oboInOwl:hasDbXref OMIM:306400 semapv:UnspecifiedMatching DOID:0070196 infantile-onset distal myopathy oboInOwl:hasDbXref OMIM:160300 semapv:UnspecifiedMatching DOID:0070197 distal myopathy 1 oboInOwl:hasDbXref GARD:10769 semapv:UnspecifiedMatching DOID:0070197 distal myopathy 1 oboInOwl:hasDbXref OMIM:160500 semapv:UnspecifiedMatching DOID:0070197 distal myopathy 1 oboInOwl:hasDbXref ORDO:59135 semapv:UnspecifiedMatching -DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref GARD:9676 semapv:UnspecifiedMatching -DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref MESH:C537480 semapv:UnspecifiedMatching DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref OMIMPS:254130 semapv:UnspecifiedMatching DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref ORDO:45448 semapv:UnspecifiedMatching +DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref GARD:9676 semapv:UnspecifiedMatching +DOID:0070198 Miyoshi muscular dystrophy oboInOwl:hasDbXref MESH:C537480 semapv:UnspecifiedMatching DOID:0070199 Miyoshi muscular dystrophy 1 oboInOwl:hasDbXref OMIM:254130 semapv:UnspecifiedMatching -DOID:0070200 Miyoshi muscular dystrophy 2 oboInOwl:hasDbXref OMIM:613318 semapv:UnspecifiedMatching DOID:0070200 Miyoshi muscular dystrophy 2 oboInOwl:hasDbXref MESH:C567646 semapv:UnspecifiedMatching +DOID:0070200 Miyoshi muscular dystrophy 2 oboInOwl:hasDbXref OMIM:613318 semapv:UnspecifiedMatching DOID:0070201 Miyoshi muscular dystrophy 3 oboInOwl:hasDbXref MESH:C567645 semapv:UnspecifiedMatching DOID:0070201 Miyoshi muscular dystrophy 3 oboInOwl:hasDbXref OMIM:613319 semapv:UnspecifiedMatching +DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref ORDO:2348 semapv:UnspecifiedMatching +DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref UMLS_CUI:C1720860 semapv:UnspecifiedMatching +DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref GARD:3126 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref NCI:C165527 semapv:UnspecifiedMatching -DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref OMIM:151660 semapv:UnspecifiedMatching -DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref ORDO:2348 semapv:UnspecifiedMatching -DOID:0070202 familial partial lipodystrophy type 2 oboInOwl:hasDbXref UMLS_CUI:C1720860 semapv:UnspecifiedMatching DOID:0070203 familial partial lipodystrophy type 5 oboInOwl:hasDbXref OMIM:615238 semapv:UnspecifiedMatching DOID:0070203 familial partial lipodystrophy type 5 oboInOwl:hasDbXref ORDO:435651 semapv:UnspecifiedMatching -DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref UMLS_CUI:C1720861 semapv:UnspecifiedMatching -DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching -DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref ORDO:79083 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref GARD:12600 semapv:UnspecifiedMatching DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching +DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref OMIM:604367 semapv:UnspecifiedMatching +DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref ORDO:79083 semapv:UnspecifiedMatching +DOID:0070204 familial partial lipodystrophy type 3 oboInOwl:hasDbXref UMLS_CUI:C1720861 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref GARD:12601 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref OMIM:613877 semapv:UnspecifiedMatching DOID:0070205 familial partial lipodystrophy type 4 oboInOwl:hasDbXref ORDO:280356 semapv:UnspecifiedMatching DOID:0070206 familial partial lipodystrophy type 6 oboInOwl:hasDbXref OMIM:615980 semapv:UnspecifiedMatching DOID:0070206 familial partial lipodystrophy type 6 oboInOwl:hasDbXref ORDO:435660 semapv:UnspecifiedMatching +DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref UMLS_CUI:C1720859 semapv:UnspecifiedMatching +DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref ORDO:79084 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref GARD:12598 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref OMIM:608600 semapv:UnspecifiedMatching -DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref ORDO:79084 semapv:UnspecifiedMatching -DOID:0070207 familial partial lipodystrophy type 1 oboInOwl:hasDbXref UMLS_CUI:C1720859 semapv:UnspecifiedMatching DOID:0070208 hereditary lymphedema IC oboInOwl:hasDbXref OMIM:613480 semapv:UnspecifiedMatching DOID:0070209 hereditary lymphedema ID oboInOwl:hasDbXref OMIM:615907 semapv:UnspecifiedMatching DOID:0070210 hereditary lymphedema IA oboInOwl:hasDbXref OMIM:153100 semapv:UnspecifiedMatching DOID:0070211 hereditary lymphedema IB oboInOwl:hasDbXref OMIM:611944 semapv:UnspecifiedMatching -DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref NCI:C48829 semapv:UnspecifiedMatching -DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref MESH:D008209 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref ORDO:79452 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref GARD:7220 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref ICD10CM:Q82.0 semapv:UnspecifiedMatching +DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref MESH:D008209 semapv:UnspecifiedMatching +DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref NCI:C48829 semapv:UnspecifiedMatching DOID:0070212 hereditary lymphedema I oboInOwl:hasDbXref UMLS_CUI:C1704423 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ORDO:90186 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS_CUI:C0238261 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref UMLS_CUI:C1704424 semapv:UnspecifiedMatching -DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ICD10CM:I89.0 semapv:UnspecifiedMatching +DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching +DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ORDO:90186 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref MESH:C562467 semapv:UnspecifiedMatching +DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref ICD10CM:I89.0 semapv:UnspecifiedMatching DOID:0070213 hereditary lymphedema II oboInOwl:hasDbXref GARD:3324 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref GARD:9932 semapv:UnspecifiedMatching DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref MESH:C538376 semapv:UnspecifiedMatching @@ -4144,12 +4151,12 @@ DOID:0070214 familial hyperinsulinemic hypoglycemia 7 oboInOwl:hasDbXref UMLS_CU DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref GARD:2819 semapv:UnspecifiedMatching DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref OMIM:609975 semapv:UnspecifiedMatching DOID:0070215 familial hyperinsulinemic hypoglycemia 4 oboInOwl:hasDbXref ORDO:71212 semapv:UnspecifiedMatching -DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref GARD:2818 semapv:UnspecifiedMatching -DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref OMIM:602485 semapv:UnspecifiedMatching DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref ORDO:79299 semapv:UnspecifiedMatching +DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref OMIM:602485 semapv:UnspecifiedMatching +DOID:0070216 familial hyperinsulinemic hypoglycemia 3 oboInOwl:hasDbXref GARD:2818 semapv:UnspecifiedMatching +DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref GARD:9931 semapv:UnspecifiedMatching DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref OMIM:606762 semapv:UnspecifiedMatching DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref ORDO:35878 semapv:UnspecifiedMatching -DOID:0070217 familial hyperinsulinemic hypoglycemia 6 oboInOwl:hasDbXref GARD:9931 semapv:UnspecifiedMatching DOID:0070218 familial hyperinsulinemic hypoglycemia 2 oboInOwl:hasDbXref OMIM:601820 semapv:UnspecifiedMatching DOID:0070219 familial hyperinsulinemic hypoglycemia 1 oboInOwl:hasDbXref OMIM:256450 semapv:UnspecifiedMatching DOID:0070220 familial hyperinsulinemic hypoglycemia 5 oboInOwl:hasDbXref OMIM:609968 semapv:UnspecifiedMatching @@ -4158,16 +4165,16 @@ DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref NC DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIMPS:211600 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ORDO:172 semapv:UnspecifiedMatching DOID:0070221 progressive familial intrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0268312 semapv:UnspecifiedMatching -DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref GARD:1288 semapv:UnspecifiedMatching -DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching -DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref ORDO:79304 semapv:UnspecifiedMatching +DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref OMIM:601847 semapv:UnspecifiedMatching DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref UMLS_CUI:C3489789 semapv:UnspecifiedMatching -DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref UMLS_CUI:C1865643 semapv:UnspecifiedMatching -DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref ORDO:79305 semapv:UnspecifiedMatching -DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching +DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref GARD:1288 semapv:UnspecifiedMatching +DOID:0070222 progressive familial intrahepatic cholestasis 2 oboInOwl:hasDbXref MESH:C535934 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref GARD:1289 semapv:UnspecifiedMatching +DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref MESH:C535935 semapv:UnspecifiedMatching DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref OMIM:602347 semapv:UnspecifiedMatching +DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref ORDO:79305 semapv:UnspecifiedMatching +DOID:0070223 progressive familial intrahepatic cholestasis 3 oboInOwl:hasDbXref UMLS_CUI:C1865643 semapv:UnspecifiedMatching DOID:0070224 progressive familial intrahepatic cholestasis 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching DOID:0070224 progressive familial intrahepatic cholestasis 4 oboInOwl:hasDbXref ORDO:480483 semapv:UnspecifiedMatching DOID:0070225 progressive familial intrahepatic cholestasis 5 oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching @@ -4176,9 +4183,9 @@ DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref MESH:C535933 semapv:UnspecifiedMatching DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching DOID:0070226 progressive familial intrahepatic cholestasis 1 oboInOwl:hasDbXref ORDO:79306 semapv:UnspecifiedMatching -DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref GARD:9804 semapv:UnspecifiedMatching -DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 semapv:UnspecifiedMatching DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref ORDO:69665 semapv:UnspecifiedMatching +DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C535932 semapv:UnspecifiedMatching +DOID:0070227 intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref GARD:9804 semapv:UnspecifiedMatching DOID:0070228 intrahepatic cholestasis of pregnancy 1 oboInOwl:hasDbXref OMIM:147480 semapv:UnspecifiedMatching DOID:0070229 intrahepatic cholestasis of pregnancy 3 oboInOwl:hasDbXref OMIM:614972 semapv:UnspecifiedMatching DOID:0070230 benign recurrent intrahepatic cholestasis oboInOwl:hasDbXref GARD:12185 semapv:UnspecifiedMatching @@ -4256,11 +4263,11 @@ DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref GA DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref MESH:C535756 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref OMIM:611209 semapv:UnspecifiedMatching DOID:0070259 congenital disorder of glycosylation type IIg oboInOwl:hasDbXref UMLS_CUI:C2931011 semapv:UnspecifiedMatching -DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref ORDO:95428 semapv:UnspecifiedMatching -DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref OMIM:611182 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref UMLS_CUI:C1970021 semapv:UnspecifiedMatching -DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref GARD:12411 semapv:UnspecifiedMatching +DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref OMIM:611182 semapv:UnspecifiedMatching +DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref ORDO:95428 semapv:UnspecifiedMatching DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref MESH:C566987 semapv:UnspecifiedMatching +DOID:0070260 congenital disorder of glycosylation type IIh oboInOwl:hasDbXref GARD:12411 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref GARD:12348 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref OMIM:613612 semapv:UnspecifiedMatching DOID:0070261 congenital disorder of glycosylation type IIi oboInOwl:hasDbXref ORDO:263487 semapv:UnspecifiedMatching @@ -4320,10 +4327,10 @@ DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref OMIM:607078 sema DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref ORDO:93311 semapv:UnspecifiedMatching DOID:0070299 multiple epiphyseal dysplasia 5 oboInOwl:hasDbXref UMLS_CUI:C1846843 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref UMLS_CUI:C1847593 semapv:UnspecifiedMatching -DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref ORDO:93307 semapv:UnspecifiedMatching -DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref GARD:9793 semapv:UnspecifiedMatching +DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref OMIM:226900 semapv:UnspecifiedMatching DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref MESH:C535504 semapv:UnspecifiedMatching +DOID:0070300 multiple epiphyseal dysplasia 4 oboInOwl:hasDbXref GARD:9793 semapv:UnspecifiedMatching DOID:0070301 multiple epiphyseal dysplasia 6 oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching DOID:0070302 multiple epiphyseal dysplasia 7 oboInOwl:hasDbXref OMIM:617719 semapv:UnspecifiedMatching DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref GARD:2180 semapv:UnspecifiedMatching @@ -4334,8 +4341,8 @@ DOID:0070303 multiple epiphyseal dysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C183828 DOID:0070304 multiple epiphyseal dysplasia 3 oboInOwl:hasDbXref OMIM:600969 semapv:UnspecifiedMatching DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref ORDO:166002 semapv:UnspecifiedMatching DOID:0070306 post-cardiac arrest syndrome oboInOwl:hasDbXref MESH:D000080942 semapv:UnspecifiedMatching -DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref ORDO:50814 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref UMLS_CUI:C1843042 semapv:UnspecifiedMatching +DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref ORDO:50814 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref MESH:C564332 semapv:UnspecifiedMatching DOID:0070307 craniolenticulosutural dysplasia oboInOwl:hasDbXref OMIM:607812 semapv:UnspecifiedMatching DOID:0070308 rippling muscle disease 1 oboInOwl:hasDbXref MESH:C535686 semapv:UnspecifiedMatching @@ -4344,16 +4351,17 @@ DOID:0070309 absence epilepsy oboInOwl:hasDbXref MESH:D004832 semapv:Unspecified DOID:0070313 thiamine deficiency disease oboInOwl:hasDbXref NCI:C34418 semapv:UnspecifiedMatching DOID:0070314 obstructive nephropathy oboInOwl:hasDbXref NCI:C120902 semapv:UnspecifiedMatching DOID:0070314 obstructive nephropathy oboInOwl:hasDbXref UMLS_CUI:C0149939 semapv:UnspecifiedMatching -DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS_CUI:C0344963 semapv:UnspecifiedMatching -DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref NCI:C99053 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref GARD:2922 semapv:UnspecifiedMatching DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref ICD10CM:Q22.6 semapv:UnspecifiedMatching +DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref NCI:C99053 semapv:UnspecifiedMatching +DOID:0070315 hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS_CUI:C0344963 semapv:UnspecifiedMatching DOID:0070316 Miura type epiphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:615923 semapv:UnspecifiedMatching DOID:0070316 Miura type epiphyseal chondrodysplasia oboInOwl:hasDbXref ORDO:329191 semapv:UnspecifiedMatching DOID:0070317 wet beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching DOID:0070317 wet beriberi oboInOwl:hasDbXref ICD10CM:E51.12 semapv:UnspecifiedMatching -DOID:0070318 dry beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching DOID:0070318 dry beriberi oboInOwl:hasDbXref ICD10CM:E51.11 semapv:UnspecifiedMatching +DOID:0070318 dry beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching +DOID:0070320 miliaria profunda oboInOwl:hasDbXref ICD10CM:L74.2 semapv:UnspecifiedMatching DOID:0070321 miliaria crystallina oboInOwl:hasDbXref ICD10CM:L74.1 semapv:UnspecifiedMatching DOID:0070322 childhood hepatocellular carcinoma oboInOwl:hasDbXref GARD:9331 semapv:UnspecifiedMatching DOID:0070322 childhood hepatocellular carcinoma oboInOwl:hasDbXref NCI:C7955 semapv:UnspecifiedMatching @@ -4366,13 +4374,13 @@ DOID:0070324 systemic Epstein-Barr virus positive T-cell lymphoma of childhood o DOID:0070325 malignant childhood adrenal gland pheochromocytoma oboInOwl:hasDbXref GARD:9368 semapv:UnspecifiedMatching DOID:0070325 malignant childhood adrenal gland pheochromocytoma oboInOwl:hasDbXref NCI:C118822 semapv:UnspecifiedMatching DOID:0070326 spitzoid melanoma oboInOwl:hasDbXref NCI:C136825 semapv:UnspecifiedMatching -DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref GARD:2469 semapv:UnspecifiedMatching DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref ICDO:8761/3 semapv:UnspecifiedMatching -DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref NCI:C48613 semapv:UnspecifiedMatching DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1711221 semapv:UnspecifiedMatching -DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279607 semapv:UnspecifiedMatching +DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref GARD:2469 semapv:UnspecifiedMatching +DOID:0070327 melanoma in congenital melanocytic nevus oboInOwl:hasDbXref NCI:C48613 semapv:UnspecifiedMatching DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref NCI:C7956 semapv:UnspecifiedMatching DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref ORDO:210159 semapv:UnspecifiedMatching +DOID:0070328 adult hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279607 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref GARD:13643 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref OMIMPS:603041 semapv:UnspecifiedMatching DOID:0070329 mitochondrial DNA depletion syndrome oboInOwl:hasDbXref ORDO:35698 semapv:UnspecifiedMatching @@ -4386,9 +4394,9 @@ DOID:0070332 multiple mitochondrial dysfunctions syndrome 6 oboInOwl:hasDbXref O DOID:0070336 arthrogryposis multiplex congenita-6 oboInOwl:hasDbXref OMIM:619334 semapv:UnspecifiedMatching DOID:0070337 epithelial recurrent erosion dystrophy oboInOwl:hasDbXref OMIM:122400 semapv:UnspecifiedMatching DOID:0070337 epithelial recurrent erosion dystrophy oboInOwl:hasDbXref MESH:C565155 semapv:UnspecifiedMatching -DOID:0070338 cerebellar hypoplasia oboInOwl:hasDbXref MESH:C562568 semapv:UnspecifiedMatching DOID:0070338 cerebellar hypoplasia skos:exactMatch MESH:C562568 semapv:UnspecifiedMatching DOID:0070338 cerebellar hypoplasia oboInOwl:hasDbXref GARD:1194 semapv:UnspecifiedMatching +DOID:0070338 cerebellar hypoplasia oboInOwl:hasDbXref MESH:C562568 semapv:UnspecifiedMatching DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay oboInOwl:hasDbXref OMIM:213000 semapv:UnspecifiedMatching DOID:0070339 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay oboInOwl:hasDbXref ORDO:2246 semapv:UnspecifiedMatching DOID:0070340 classic citrullinemia oboInOwl:hasDbXref OMIM:215700 semapv:UnspecifiedMatching @@ -4417,9 +4425,14 @@ DOID:0070359 primary biliary cholangitis 2 oboInOwl:hasDbXref OMIM:613007 semapv DOID:0070360 primary biliary cholangitis 3 oboInOwl:hasDbXref OMIM:613008 semapv:UnspecifiedMatching DOID:0070361 primary biliary cholangitis 4 oboInOwl:hasDbXref OMIM:614220 semapv:UnspecifiedMatching DOID:0070362 primary biliary cholangitis 5 oboInOwl:hasDbXref OMIM:614221 semapv:UnspecifiedMatching +DOID:0070368 autosomal recessive chronic granulomatous disease 5 oboInOwl:hasDbXref OMIM:618935 semapv:UnspecifiedMatching +DOID:0070369 restrictive dermopathy 1 oboInOwl:hasDbXref OMIM:275210 semapv:UnspecifiedMatching +DOID:0070369 restrictive dermopathy 1 skos:exactMatch OMIM:275210 semapv:UnspecifiedMatching +DOID:0070370 restrictive dermopathy 2 oboInOwl:hasDbXref OMIM:619793 semapv:UnspecifiedMatching +DOID:0070370 restrictive dermopathy 2 skos:exactMatch OMIM:619793 semapv:UnspecifiedMatching +DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref UMLS_CUI:C0005940 semapv:UnspecifiedMatching -DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080011 bone resorption disease oboInOwl:hasDbXref MESH:D001862 semapv:UnspecifiedMatching DOID:0080016 spina bifida skos:exactMatch NCI:C101214 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref UMLS_CUI:C0080178 semapv:UnspecifiedMatching @@ -4427,78 +4440,78 @@ DOID:0080016 spina bifida oboInOwl:hasDbXref NCI:C101214 semapv:UnspecifiedMatch DOID:0080016 spina bifida skos:exactMatch MESH:D016135 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref ICD9CM:741 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref ICD10CM:Q05 semapv:UnspecifiedMatching -DOID:0080016 spina bifida oboInOwl:hasDbXref GARD:7673 semapv:UnspecifiedMatching DOID:0080016 spina bifida oboInOwl:hasDbXref MESH:D016135 semapv:UnspecifiedMatching +DOID:0080016 spina bifida oboInOwl:hasDbXref GARD:7673 semapv:UnspecifiedMatching DOID:0080019 metaphyseal dysplasia oboInOwl:hasDbXref OMIM:215050 semapv:UnspecifiedMatching DOID:0080020 Jansen's metaphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:156400 semapv:UnspecifiedMatching DOID:0080021 Schmid metaphyseal chondrodysplasia oboInOwl:hasDbXref GARD:7029 semapv:UnspecifiedMatching DOID:0080021 Schmid metaphyseal chondrodysplasia oboInOwl:hasDbXref OMIM:156500 semapv:UnspecifiedMatching DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive oboInOwl:hasDbXref OMIM:215150 semapv:UnspecifiedMatching -DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref ORDO:93346 semapv:UnspecifiedMatching -DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref GARD:134 semapv:UnspecifiedMatching +DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching +DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref ORDO:93346 semapv:UnspecifiedMatching DOID:0080029 autosomal recessive spinocerebellar ataxia 16 oboInOwl:hasDbXref OMIM:615768 semapv:UnspecifiedMatching DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref MESH:C566574 semapv:UnspecifiedMatching DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching DOID:0080031 fibrous dysplasia oboInOwl:hasDbXref GARD:6444 semapv:UnspecifiedMatching DOID:0080031 fibrous dysplasia oboInOwl:hasDbXref ICDO:8818/0 semapv:UnspecifiedMatching -DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref GARD:1567 semapv:UnspecifiedMatching -DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C562940 semapv:UnspecifiedMatching DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:218300 semapv:UnspecifiedMatching DOID:0080032 craniodiaphyseal dysplasia skos:exactMatch MESH:C562940 semapv:UnspecifiedMatching +DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref GARD:1567 semapv:UnspecifiedMatching +DOID:0080032 craniodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C562940 semapv:UnspecifiedMatching DOID:0080033 craniometaphyseal dysplasia oboInOwl:hasDbXref OMIMPS:123000 semapv:UnspecifiedMatching DOID:0080033 craniometaphyseal dysplasia oboInOwl:hasDbXref ORDO:1522 semapv:UnspecifiedMatching DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref OMIM:239100 semapv:UnspecifiedMatching DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching -DOID:0080037 Worth syndrome oboInOwl:hasDbXref UMLS_CUI:C0432273 semapv:UnspecifiedMatching -DOID:0080037 Worth syndrome oboInOwl:hasDbXref ORDO:2790 semapv:UnspecifiedMatching +DOID:0080037 Worth syndrome oboInOwl:hasDbXref GARD:390 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref MESH:C536748 semapv:UnspecifiedMatching DOID:0080037 Worth syndrome oboInOwl:hasDbXref OMIM:144750 semapv:UnspecifiedMatching -DOID:0080037 Worth syndrome oboInOwl:hasDbXref GARD:390 semapv:UnspecifiedMatching +DOID:0080037 Worth syndrome oboInOwl:hasDbXref ORDO:2790 semapv:UnspecifiedMatching +DOID:0080037 Worth syndrome oboInOwl:hasDbXref UMLS_CUI:C0432273 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref GARD:4611 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref MESH:D058631 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref OMIM:265800 semapv:UnspecifiedMatching DOID:0080038 pycnodysostosis oboInOwl:hasDbXref ORDO:763 semapv:UnspecifiedMatching +DOID:0080039 axial osteomalacia oboInOwl:hasDbXref OMIM:109130 semapv:UnspecifiedMatching DOID:0080039 axial osteomalacia oboInOwl:hasDbXref GARD:8431 semapv:UnspecifiedMatching DOID:0080039 axial osteomalacia oboInOwl:hasDbXref MESH:C537791 semapv:UnspecifiedMatching -DOID:0080039 axial osteomalacia oboInOwl:hasDbXref OMIM:109130 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ORDO:429 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref NCI:C118697 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref UMLS_CUI:C0410529 semapv:UnspecifiedMatching -DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref GARD:6724 semapv:UnspecifiedMatching +DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:0080041 hypochondroplasia oboInOwl:hasDbXref MESH:C562937 semapv:UnspecifiedMatching +DOID:0080041 hypochondroplasia oboInOwl:hasDbXref NCI:C118697 semapv:UnspecifiedMatching +DOID:0080041 hypochondroplasia oboInOwl:hasDbXref OMIM:146000 semapv:UnspecifiedMatching +DOID:0080041 hypochondroplasia oboInOwl:hasDbXref ORDO:429 semapv:UnspecifiedMatching +DOID:0080041 hypochondroplasia oboInOwl:hasDbXref UMLS_CUI:C0410529 semapv:UnspecifiedMatching DOID:0080042 autosomal recessive spinocerebellar ataxia 18 oboInOwl:hasDbXref OMIM:616204 semapv:UnspecifiedMatching DOID:0080043 achondrogenesis oboInOwl:hasDbXref GARD:2882 semapv:UnspecifiedMatching DOID:0080043 achondrogenesis oboInOwl:hasDbXref MESH:C579878 semapv:UnspecifiedMatching DOID:0080043 achondrogenesis oboInOwl:hasDbXref OMIMPS:200600 semapv:UnspecifiedMatching DOID:0080044 hypochondrogenesis oboInOwl:hasDbXref MESH:C563007 semapv:UnspecifiedMatching +DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 semapv:UnspecifiedMatching DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref OMIM:156550 semapv:UnspecifiedMatching DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref GARD:6841 semapv:UnspecifiedMatching -DOID:0080045 Kniest dysplasia oboInOwl:hasDbXref MESH:C537207 semapv:UnspecifiedMatching DOID:0080046 Stickler syndrome oboInOwl:hasDbXref GARD:10782 semapv:UnspecifiedMatching DOID:0080046 Stickler syndrome oboInOwl:hasDbXref OMIMPS:108300 semapv:UnspecifiedMatching DOID:0080046 Stickler syndrome oboInOwl:hasDbXref ORDO:828 semapv:UnspecifiedMatching DOID:0080047 pseudoachondroplasia oboInOwl:hasDbXref GARD:4540 semapv:UnspecifiedMatching DOID:0080047 pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 semapv:UnspecifiedMatching DOID:0080047 pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 semapv:UnspecifiedMatching -DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref ORDO:93437 semapv:UnspecifiedMatching DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref GARD:6 semapv:UnspecifiedMatching DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref MESH:C535658 semapv:UnspecifiedMatching +DOID:0080049 acromesomelic dysplasia oboInOwl:hasDbXref ORDO:93437 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref GARD:507 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref MESH:C535661 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:602875 semapv:UnspecifiedMatching DOID:0080050 acromesomelic dysplasia, Maroteaux type oboInOwl:hasDbXref ORDO:40 semapv:UnspecifiedMatching -DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref GARD:506 semapv:UnspecifiedMatching -DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref OMIM:201250 semapv:UnspecifiedMatching DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref ORDO:968 semapv:UnspecifiedMatching +DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref OMIM:201250 semapv:UnspecifiedMatching +DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type oboInOwl:hasDbXref GARD:506 semapv:UnspecifiedMatching DOID:0080052 acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref GARD:1300 semapv:UnspecifiedMatching DOID:0080052 acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:200700 semapv:UnspecifiedMatching DOID:0080052 acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ORDO:2098 semapv:UnspecifiedMatching -DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref OMIM:103580 semapv:UnspecifiedMatching -DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref MESH:C537045 semapv:UnspecifiedMatching DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref GARD:5770 semapv:UnspecifiedMatching +DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref MESH:C537045 semapv:UnspecifiedMatching +DOID:0080053 Albright's hereditary osteodystrophy oboInOwl:hasDbXref OMIM:103580 semapv:UnspecifiedMatching DOID:0080054 achondrogenesis type IA oboInOwl:hasDbXref GARD:459 semapv:UnspecifiedMatching DOID:0080054 achondrogenesis type IA oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching DOID:0080055 achondrogenesis type IB oboInOwl:hasDbXref GARD:460 semapv:UnspecifiedMatching @@ -4508,8 +4521,8 @@ DOID:0080056 achondrogenesis type II oboInOwl:hasDbXref MESH:C536017 semapv:Unsp DOID:0080056 achondrogenesis type II oboInOwl:hasDbXref OMIM:200610 semapv:UnspecifiedMatching DOID:0080057 autosomal recessive spinocerebellar ataxia 15 oboInOwl:hasDbXref OMIM:615705 semapv:UnspecifiedMatching DOID:0080058 autosomal recessive spinocerebellar ataxia 14 oboInOwl:hasDbXref OMIM:615386 semapv:UnspecifiedMatching -DOID:0080059 autosomal recessive spinocerebellar ataxia 7 oboInOwl:hasDbXref GARD:12232 semapv:UnspecifiedMatching DOID:0080059 autosomal recessive spinocerebellar ataxia 7 oboInOwl:hasDbXref OMIM:609270 semapv:UnspecifiedMatching +DOID:0080059 autosomal recessive spinocerebellar ataxia 7 oboInOwl:hasDbXref GARD:12232 semapv:UnspecifiedMatching DOID:0080060 autosomal recessive spinocerebellar ataxia 12 oboInOwl:hasDbXref OMIM:614322 semapv:UnspecifiedMatching DOID:0080061 autosomal recessive spinocerebellar ataxia 2 oboInOwl:hasDbXref OMIM:213200 semapv:UnspecifiedMatching DOID:0080062 autosomal recessive spinocerebellar ataxia 13 oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching @@ -4518,18 +4531,18 @@ DOID:0080064 autosomal recessive spinocerebellar ataxia 17 oboInOwl:hasDbXref OM DOID:0080065 autosomal recessive spinocerebellar ataxia 19 oboInOwl:hasDbXref OMIM:616291 semapv:UnspecifiedMatching DOID:0080066 autosomal recessive spinocerebellar ataxia 20 oboInOwl:hasDbXref OMIM:616354 semapv:UnspecifiedMatching DOID:0080067 Charcot-Marie-Tooth disease type 5 oboInOwl:hasDbXref OMIM:600361 semapv:UnspecifiedMatching -DOID:0080068 Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:601152 semapv:UnspecifiedMatching DOID:0080068 Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:616505 semapv:UnspecifiedMatching +DOID:0080068 Charcot-Marie-Tooth disease type 6 oboInOwl:hasDbXref OMIM:601152 semapv:UnspecifiedMatching DOID:0080070 mucolipidosis II alpha/beta oboInOwl:hasDbXref GARD:6749 semapv:UnspecifiedMatching DOID:0080070 mucolipidosis II alpha/beta oboInOwl:hasDbXref OMIM:252500 semapv:UnspecifiedMatching DOID:0080071 mucolipidosis III alpha/beta oboInOwl:hasDbXref OMIM:252600 semapv:UnspecifiedMatching DOID:0080071 mucolipidosis III alpha/beta oboInOwl:hasDbXref ORDO:577 semapv:UnspecifiedMatching -DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:12744 semapv:UnspecifiedMatching +DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref UMLS_CUI:C0021847 semapv:UnspecifiedMatching +DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref ORDO:2978 semapv:UnspecifiedMatching +DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref NCI:C34733 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:6789 semapv:UnspecifiedMatching +DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:12744 semapv:UnspecifiedMatching DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref MESH:D007418 semapv:UnspecifiedMatching -DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref NCI:C34733 semapv:UnspecifiedMatching -DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref ORDO:2978 semapv:UnspecifiedMatching -DOID:0080072 intestinal pseudo-obstruction oboInOwl:hasDbXref UMLS_CUI:C0021847 semapv:UnspecifiedMatching DOID:0080073 spina bifida occulta oboInOwl:hasDbXref MESH:D016136 semapv:UnspecifiedMatching DOID:0080074 neural tube defect oboInOwl:hasDbXref GARD:4016 semapv:UnspecifiedMatching DOID:0080074 neural tube defect oboInOwl:hasDbXref OMIM:301410 semapv:UnspecifiedMatching @@ -4538,32 +4551,32 @@ DOID:0080075 Neu-Laxova syndrome 2 oboInOwl:hasDbXref OMIM:616038 semapv:Unspeci DOID:0080076 Neu-Laxova syndrome 1 oboInOwl:hasDbXref OMIM:256520 semapv:UnspecifiedMatching DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 oboInOwl:hasDbXref MESH:C567363 semapv:UnspecifiedMatching DOID:0080077 hypophosphatemic nephrolithiasis/osteoporosis 1 oboInOwl:hasDbXref OMIM:612286 semapv:UnspecifiedMatching -DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 oboInOwl:hasDbXref MESH:C567362 semapv:UnspecifiedMatching DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 oboInOwl:hasDbXref OMIM:612287 semapv:UnspecifiedMatching +DOID:0080078 hypophosphatemic nephrolithiasis/osteoporosis 2 oboInOwl:hasDbXref MESH:C567362 semapv:UnspecifiedMatching +DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref ORDO:79153 semapv:UnspecifiedMatching DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref OMIM:161050 semapv:UnspecifiedMatching DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref ORDO:280654 semapv:UnspecifiedMatching -DOID:0080079 nonsyndromic congenital nail disorder 1 oboInOwl:hasDbXref ORDO:79153 semapv:UnspecifiedMatching DOID:0080080 nonsyndromic congenital nail disorder 2 oboInOwl:hasDbXref OMIM:149300 semapv:UnspecifiedMatching DOID:0080081 nonsyndromic congenital nail disorder 3 oboInOwl:hasDbXref OMIM:151600 semapv:UnspecifiedMatching +DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref GARD:12930 semapv:UnspecifiedMatching DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref MESH:C536377 semapv:UnspecifiedMatching DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching -DOID:0080082 nonsyndromic congenital nail disorder 4 oboInOwl:hasDbXref GARD:12930 semapv:UnspecifiedMatching DOID:0080083 nonsyndromic congenital nail disorder 5 oboInOwl:hasDbXref OMIM:164800 semapv:UnspecifiedMatching DOID:0080084 nonsyndromic congenital nail disorder 6 oboInOwl:hasDbXref OMIM:107000 semapv:UnspecifiedMatching DOID:0080085 nonsyndromic congenital nail disorder 7 oboInOwl:hasDbXref OMIM:605779 semapv:UnspecifiedMatching DOID:0080086 nonsyndromic congenital nail disorder 8 oboInOwl:hasDbXref OMIM:607523 semapv:UnspecifiedMatching DOID:0080087 nonsyndromic congenital nail disorder 9 oboInOwl:hasDbXref OMIM:614149 semapv:UnspecifiedMatching +DOID:0080089 tubular aggregate myopathy 1 skos:narrowMatch ORDO:2593 semapv:UnspecifiedMatching DOID:0080089 tubular aggregate myopathy 1 oboInOwl:hasDbXref GARD:3884 semapv:UnspecifiedMatching DOID:0080089 tubular aggregate myopathy 1 oboInOwl:hasDbXref OMIM:160565 semapv:UnspecifiedMatching -DOID:0080089 tubular aggregate myopathy 1 skos:narrowMatch ORDO:2593 semapv:UnspecifiedMatching -DOID:0080090 reducing body myopathy 1A oboInOwl:hasDbXref GARD:12162 semapv:UnspecifiedMatching DOID:0080090 reducing body myopathy 1A oboInOwl:hasDbXref OMIM:300717 semapv:UnspecifiedMatching +DOID:0080090 reducing body myopathy 1A oboInOwl:hasDbXref GARD:12162 semapv:UnspecifiedMatching DOID:0080091 spheroid body myopathy oboInOwl:hasDbXref GARD:8711 semapv:UnspecifiedMatching DOID:0080091 spheroid body myopathy oboInOwl:hasDbXref MESH:C000598645 semapv:UnspecifiedMatching DOID:0080091 spheroid body myopathy oboInOwl:hasDbXref OMIM:182920 semapv:UnspecifiedMatching +DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref ORDO:363543 semapv:UnspecifiedMatching -DOID:0080092 myofibrillar myopathy 1 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0080093 myofibrillar myopathy 2 oboInOwl:hasDbXref OMIM:608810 semapv:UnspecifiedMatching DOID:0080093 myofibrillar myopathy 2 oboInOwl:hasDbXref ORDO:399058 semapv:UnspecifiedMatching DOID:0080094 myofibrillar myopathy 3 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching @@ -4578,22 +4591,22 @@ DOID:0080100 congenital myopathy oboInOwl:hasDbXref OMIM:255300 semapv:Unspecifi DOID:0080101 Compton-North congenital myopathy oboInOwl:hasDbXref OMIM:612540 semapv:UnspecifiedMatching DOID:0080101 Compton-North congenital myopathy oboInOwl:hasDbXref ORDO:210163 semapv:UnspecifiedMatching DOID:0080102 congenital fiber-type disproportion oboInOwl:hasDbXref OMIM:255310 semapv:UnspecifiedMatching -DOID:0080103 cylindrical spirals myopathy oboInOwl:hasDbXref OMIM:160990 semapv:UnspecifiedMatching DOID:0080103 cylindrical spirals myopathy oboInOwl:hasDbXref GARD:11906 semapv:UnspecifiedMatching +DOID:0080103 cylindrical spirals myopathy oboInOwl:hasDbXref OMIM:160990 semapv:UnspecifiedMatching DOID:0080105 microcephaly and chorioretinopathy 1 oboInOwl:hasDbXref OMIM:251270 semapv:UnspecifiedMatching DOID:0080106 microcephaly and chorioretinopathy 2 oboInOwl:hasDbXref OMIM:616171 semapv:UnspecifiedMatching DOID:0080107 microcephaly and chorioretinopathy 3 oboInOwl:hasDbXref OMIM:616335 semapv:UnspecifiedMatching -DOID:0080108 myoglobinuria oboInOwl:hasDbXref MESH:D009212 semapv:UnspecifiedMatching -DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:160010 semapv:UnspecifiedMatching DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:268200 semapv:UnspecifiedMatching DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:550500 semapv:UnspecifiedMatching +DOID:0080108 myoglobinuria oboInOwl:hasDbXref MESH:D009212 semapv:UnspecifiedMatching +DOID:0080108 myoglobinuria oboInOwl:hasDbXref OMIM:160010 semapv:UnspecifiedMatching DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref GARD:2998 semapv:UnspecifiedMatching DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref OMIM:228550 semapv:UnspecifiedMatching DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref OMIM:615293 semapv:UnspecifiedMatching DOID:0080109 infantile myofibromatosis oboInOwl:hasDbXref ORDO:2591 semapv:UnspecifiedMatching DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIMPS:178110 semapv:UnspecifiedMatching -DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:265000 semapv:UnspecifiedMatching DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:312150 semapv:UnspecifiedMatching +DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:265000 semapv:UnspecifiedMatching DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref MESH:C537377 semapv:UnspecifiedMatching DOID:0080110 contractures, pterygia, and spondylocarpotarsal fusion syndrome oboInOwl:hasDbXref OMIM:253290 semapv:UnspecifiedMatching DOID:0080111 mitochondrial complex III deficiency nuclear type 1 oboInOwl:hasDbXref OMIM:124000 semapv:UnspecifiedMatching @@ -4604,48 +4617,48 @@ DOID:0080115 mitochondrial complex III deficiency nuclear type 6 oboInOwl:hasDbX DOID:0080116 mitochondrial complex III deficiency nuclear type 7 oboInOwl:hasDbXref OMIM:615824 semapv:UnspecifiedMatching DOID:0080117 mitochondrial complex III deficiency nuclear type 8 oboInOwl:hasDbXref OMIM:615838 semapv:UnspecifiedMatching DOID:0080118 mitochondrial complex III deficiency nuclear type 9 oboInOwl:hasDbXref OMIM:616111 semapv:UnspecifiedMatching -DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref ORDO:298 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref GARD:9920 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref NCI:C11967 semapv:UnspecifiedMatching DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref OMIM:603041 semapv:UnspecifiedMatching -DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref ORDO:254875 semapv:UnspecifiedMatching +DOID:0080119 mitochondrial DNA depletion syndrome 1 oboInOwl:hasDbXref ORDO:298 semapv:UnspecifiedMatching DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref OMIM:609560 semapv:UnspecifiedMatching +DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref ORDO:254875 semapv:UnspecifiedMatching DOID:0080120 mitochondrial DNA depletion syndrome 2 oboInOwl:hasDbXref MESH:C563698 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref GARD:13644 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref MESH:C580039 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref OMIM:251880 semapv:UnspecifiedMatching DOID:0080121 mitochondrial DNA depletion syndrome 3 oboInOwl:hasDbXref ORDO:279934 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref GARD:5783 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10CM:G31.81 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MESH:D002549 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref NCI:C35257 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ORDO:726 semapv:UnspecifiedMatching -DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS_CUI:C0205710 semapv:UnspecifiedMatching DOID:0080122 Alpers-Huttenlocher syndrome skos:exactMatch MESH:D002549 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref UMLS_CUI:C0205710 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref OMIM:203700 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref MESH:D002549 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref ICD10CM:G31.81 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref GARD:5783 semapv:UnspecifiedMatching +DOID:0080122 Alpers-Huttenlocher syndrome oboInOwl:hasDbXref NCI:C35257 semapv:UnspecifiedMatching DOID:0080123 mitochondrial DNA depletion syndrome 4b oboInOwl:hasDbXref OMIM:613662 semapv:UnspecifiedMatching DOID:0080123 mitochondrial DNA depletion syndrome 4b oboInOwl:hasDbXref ORDO:298 semapv:UnspecifiedMatching -DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref MESH:C567624 semapv:UnspecifiedMatching DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref MESH:C580473 semapv:UnspecifiedMatching +DOID:0080124 mitochondrial DNA depletion syndrome 5 oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching +DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref ORDO:255229 semapv:UnspecifiedMatching DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref GARD:3972 semapv:UnspecifiedMatching DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref MESH:C538344 semapv:UnspecifiedMatching DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref OMIM:256810 semapv:UnspecifiedMatching -DOID:0080125 mitochondrial DNA depletion syndrome 6 oboInOwl:hasDbXref ORDO:255229 semapv:UnspecifiedMatching -DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref GARD:4062 semapv:UnspecifiedMatching DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref MESH:C535523 semapv:UnspecifiedMatching DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref OMIM:271245 semapv:UnspecifiedMatching -DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref GARD:13200 semapv:UnspecifiedMatching +DOID:0080126 mitochondrial DNA depletion syndrome 7 oboInOwl:hasDbXref GARD:4062 semapv:UnspecifiedMatching DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref MESH:C536350 semapv:UnspecifiedMatching DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching -DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref OMIM:245400 semapv:UnspecifiedMatching +DOID:0080127 mitochondrial DNA depletion syndrome 8a oboInOwl:hasDbXref GARD:13200 semapv:UnspecifiedMatching DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref MESH:C580473 semapv:UnspecifiedMatching +DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref OMIM:245400 semapv:UnspecifiedMatching DOID:0080128 mitochondrial DNA depletion syndrome 9 oboInOwl:hasDbXref ORDO:17 semapv:UnspecifiedMatching DOID:0080129 mitochondrial DNA depletion syndrome 11 oboInOwl:hasDbXref OMIM:615084 semapv:UnspecifiedMatching DOID:0080129 mitochondrial DNA depletion syndrome 11 oboInOwl:hasDbXref ORDO:352447 semapv:UnspecifiedMatching -DOID:0080130 mitochondrial DNA depletion syndrome 12a oboInOwl:hasDbXref OMIM:617184 semapv:UnspecifiedMatching DOID:0080130 mitochondrial DNA depletion syndrome 12a oboInOwl:hasDbXref NCI:C129977 semapv:UnspecifiedMatching +DOID:0080130 mitochondrial DNA depletion syndrome 12a oboInOwl:hasDbXref OMIM:617184 semapv:UnspecifiedMatching DOID:0080131 mitochondrial DNA depletion syndrome 13 oboInOwl:hasDbXref GARD:13298 semapv:UnspecifiedMatching DOID:0080131 mitochondrial DNA depletion syndrome 13 oboInOwl:hasDbXref OMIM:615471 semapv:UnspecifiedMatching DOID:0080131 mitochondrial DNA depletion syndrome 13 oboInOwl:hasDbXref ORDO:369897 semapv:UnspecifiedMatching @@ -4653,48 +4666,48 @@ DOID:0080132 Sengers syndrome oboInOwl:hasDbXref GARD:1142 semapv:UnspecifiedMat DOID:0080132 Sengers syndrome oboInOwl:hasDbXref MESH:C538280 semapv:UnspecifiedMatching DOID:0080132 Sengers syndrome oboInOwl:hasDbXref OMIM:212350 semapv:UnspecifiedMatching DOID:0080132 Sengers syndrome oboInOwl:hasDbXref ORDO:1369 semapv:UnspecifiedMatching +DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref ORDO:401869 semapv:UnspecifiedMatching DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref GARD:12632 semapv:UnspecifiedMatching DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref OMIM:605711 semapv:UnspecifiedMatching -DOID:0080133 multiple mitochondrial dysfunctions syndrome 1 oboInOwl:hasDbXref ORDO:401869 semapv:UnspecifiedMatching DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 oboInOwl:hasDbXref GARD:12632 semapv:UnspecifiedMatching DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 oboInOwl:hasDbXref OMIM:614299 semapv:UnspecifiedMatching DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 oboInOwl:hasDbXref ORDO:401874 semapv:UnspecifiedMatching -DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 oboInOwl:hasDbXref ORDO:363424 semapv:UnspecifiedMatching DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 oboInOwl:hasDbXref OMIM:615330 semapv:UnspecifiedMatching +DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 oboInOwl:hasDbXref ORDO:363424 semapv:UnspecifiedMatching DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 oboInOwl:hasDbXref OMIM:616370 semapv:UnspecifiedMatching DOID:0080136 multiple mitochondrial dysfunctions syndrome 4 oboInOwl:hasDbXref ORDO:457406 semapv:UnspecifiedMatching DOID:0080137 multiple endocrine neoplasia type 4 oboInOwl:hasDbXref MESH:C567059 semapv:UnspecifiedMatching DOID:0080137 multiple endocrine neoplasia type 4 oboInOwl:hasDbXref OMIM:610755 semapv:UnspecifiedMatching DOID:0080138 multiple congenital anomalies-hypotonia-seizures syndrome 1 oboInOwl:hasDbXref OMIM:614080 semapv:UnspecifiedMatching -DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref GARD:12777 semapv:UnspecifiedMatching DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref OMIM:300868 semapv:UnspecifiedMatching +DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref GARD:12777 semapv:UnspecifiedMatching DOID:0080139 multiple congenital anomalies-hypotonia-seizures syndrome 2 oboInOwl:hasDbXref ORDO:300496 semapv:UnspecifiedMatching DOID:0080140 multiple congenital anomalies-hypotonia-seizures syndrome 3 oboInOwl:hasDbXref OMIM:615398 semapv:UnspecifiedMatching DOID:0080141 mosaic variegated aneuploidy syndrome 1 oboInOwl:hasDbXref OMIM:257300 semapv:UnspecifiedMatching DOID:0080142 mosaic variegated aneuploidy syndrome 2 oboInOwl:hasDbXref OMIM:614114 semapv:UnspecifiedMatching -DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref OMIMPS:135700 semapv:UnspecifiedMatching DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref GARD:12590 semapv:UnspecifiedMatching DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref MESH:C580012 semapv:UnspecifiedMatching +DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref OMIMPS:135700 semapv:UnspecifiedMatching DOID:0080143 congenital fibrosis of the extraocular muscles oboInOwl:hasDbXref ORDO:45358 semapv:UnspecifiedMatching DOID:0080144 childhood acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C3168 semapv:UnspecifiedMatching -DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C5640 semapv:UnspecifiedMatching DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS_CUI:C1332997 semapv:UnspecifiedMatching +DOID:0080145 childhood T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C5640 semapv:UnspecifiedMatching DOID:0080146 childhood B-cell acute lymphoblastic leukemia oboInOwl:hasDbXref NCI:C9140 semapv:UnspecifiedMatching DOID:0080147 lymphoblastic lymphoma oboInOwl:hasDbXref GARD:3329 semapv:UnspecifiedMatching DOID:0080148 T-cell childhood lymphoblastic lymphoma oboInOwl:hasDbXref NCI:C7210 semapv:UnspecifiedMatching DOID:0080149 adult acute monocytic leukemia oboInOwl:hasDbXref NCI:C8263 semapv:UnspecifiedMatching DOID:0080150 adrenocorticotropic hormone deficiency oboInOwl:hasDbXref MESH:C535668 semapv:UnspecifiedMatching DOID:0080150 adrenocorticotropic hormone deficiency oboInOwl:hasDbXref OMIM:201400 semapv:UnspecifiedMatching +DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:42 semapv:UnspecifiedMatching +DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 semapv:UnspecifiedMatching DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref GARD:540 semapv:UnspecifiedMatching DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C536038 semapv:UnspecifiedMatching -DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201450 semapv:UnspecifiedMatching -DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:42 semapv:UnspecifiedMatching DOID:0080154 short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref GARD:4822 semapv:UnspecifiedMatching DOID:0080154 short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201470 semapv:UnspecifiedMatching DOID:0080154 short chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26792 semapv:UnspecifiedMatching -DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26793 semapv:UnspecifiedMatching DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref GARD:5508 semapv:UnspecifiedMatching DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref OMIM:201475 semapv:UnspecifiedMatching +DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ORDO:26793 semapv:UnspecifiedMatching DOID:0080156 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref GARD:555 semapv:UnspecifiedMatching DOID:0080156 X-linked adrenal hypoplasia congenita oboInOwl:hasDbXref OMIM:300200 semapv:UnspecifiedMatching DOID:0080158 herpes simplex virus keratitis oboInOwl:hasDbXref MESH:D007635 semapv:UnspecifiedMatching @@ -4717,32 +4730,32 @@ DOID:0080169 tricuspid atresia oboInOwl:hasDbXref MESH:D018785 semapv:Unspecifie DOID:0080169 tricuspid atresia oboInOwl:hasDbXref OMIM:605067 semapv:UnspecifiedMatching DOID:0080170 normophosphatemic familial tumoral calcinosis oboInOwl:hasDbXref GARD:10878 semapv:UnspecifiedMatching DOID:0080170 normophosphatemic familial tumoral calcinosis oboInOwl:hasDbXref OMIM:610455 semapv:UnspecifiedMatching -DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref GARD:7792 semapv:UnspecifiedMatching DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref OMIM:189960 semapv:UnspecifiedMatching +DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref GARD:7792 semapv:UnspecifiedMatching DOID:0080172 thiopurine S-methyltransferase deficiency oboInOwl:hasDbXref MESH:C536512 semapv:UnspecifiedMatching DOID:0080172 thiopurine S-methyltransferase deficiency oboInOwl:hasDbXref OMIM:610460 semapv:UnspecifiedMatching DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex oboInOwl:hasDbXref ORDO:322 semapv:UnspecifiedMatching -DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ORDO:93930 semapv:UnspecifiedMatching DOID:0080174 bladder exstrophy oboInOwl:hasDbXref OMIM:600057 semapv:UnspecifiedMatching -DOID:0080174 bladder exstrophy oboInOwl:hasDbXref MESH:D001746 semapv:UnspecifiedMatching -DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ICD9CM:753.5 semapv:UnspecifiedMatching DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ICD10CM:Q64.10 semapv:UnspecifiedMatching +DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ICD9CM:753.5 semapv:UnspecifiedMatching +DOID:0080174 bladder exstrophy oboInOwl:hasDbXref MESH:D001746 semapv:UnspecifiedMatching +DOID:0080174 bladder exstrophy oboInOwl:hasDbXref ORDO:93930 semapv:UnspecifiedMatching DOID:0080175 cloacal exstrophy oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching DOID:0080175 cloacal exstrophy oboInOwl:hasDbXref ORDO:93929 semapv:UnspecifiedMatching DOID:0080176 meningococcal meningitis oboInOwl:hasDbXref ICD10CM:A39.0 semapv:UnspecifiedMatching DOID:0080176 meningococcal meningitis oboInOwl:hasDbXref ICD9CM:036.0 semapv:UnspecifiedMatching DOID:0080176 meningococcal meningitis oboInOwl:hasDbXref MESH:D008585 semapv:UnspecifiedMatching -DOID:0080177 hepatic veno-occlusive disease oboInOwl:hasDbXref GARD:13004 semapv:UnspecifiedMatching -DOID:0080177 hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10CM:K76.5 semapv:UnspecifiedMatching -DOID:0080177 hepatic veno-occlusive disease oboInOwl:hasDbXref MESH:D006504 semapv:UnspecifiedMatching DOID:0080177 hepatic veno-occlusive disease skos:exactMatch MESH:D006504 semapv:UnspecifiedMatching +DOID:0080177 hepatic veno-occlusive disease oboInOwl:hasDbXref MESH:D006504 semapv:UnspecifiedMatching +DOID:0080177 hepatic veno-occlusive disease oboInOwl:hasDbXref ICD10CM:K76.5 semapv:UnspecifiedMatching +DOID:0080177 hepatic veno-occlusive disease oboInOwl:hasDbXref GARD:13004 semapv:UnspecifiedMatching DOID:0080178 mucositis oboInOwl:hasDbXref MESH:D052016 semapv:UnspecifiedMatching DOID:0080179 haemophilus meningitis oboInOwl:hasDbXref ICD10CM:G00.0 semapv:UnspecifiedMatching DOID:0080179 haemophilus meningitis oboInOwl:hasDbXref ICD9CM:320.0 semapv:UnspecifiedMatching DOID:0080179 haemophilus meningitis oboInOwl:hasDbXref MESH:D008583 semapv:UnspecifiedMatching -DOID:0080181 PHARC syndrome oboInOwl:hasDbXref ORDO:171848 semapv:UnspecifiedMatching DOID:0080181 PHARC syndrome oboInOwl:hasDbXref OMIM:612674 semapv:UnspecifiedMatching +DOID:0080181 PHARC syndrome oboInOwl:hasDbXref ORDO:171848 semapv:UnspecifiedMatching DOID:0080187 chronic neutrophilic leukemia oboInOwl:hasDbXref ICDO:9963/3 semapv:UnspecifiedMatching DOID:0080187 chronic neutrophilic leukemia oboInOwl:hasDbXref NCI:C3179 semapv:UnspecifiedMatching DOID:0080188 chronic myelomonocytic leukemia oboInOwl:hasDbXref GARD:8225 semapv:UnspecifiedMatching @@ -4766,24 +4779,24 @@ DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref MESH:D015179 semapv:Unspeci DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref NCI:C2955 semapv:UnspecifiedMatching DOID:0080199 colorectal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0009402 semapv:UnspecifiedMatching DOID:0080200 bilateral renal aplasia oboInOwl:hasDbXref ORDO:1848 semapv:UnspecifiedMatching -DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref GARD:8422 semapv:UnspecifiedMatching DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref OMIM:261540 semapv:UnspecifiedMatching +DOID:0080201 Peters plus syndrome oboInOwl:hasDbXref GARD:8422 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref GARD:5743 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref ICDO:8200/3 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref MESH:D003528 semapv:UnspecifiedMatching DOID:0080202 adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C2970 semapv:UnspecifiedMatching DOID:0080204 renal hypoplasia oboInOwl:hasDbXref ORDO:93101 semapv:UnspecifiedMatching -DOID:0080205 CAKUT oboInOwl:hasDbXref ORDO:93545 semapv:UnspecifiedMatching DOID:0080205 CAKUT oboInOwl:hasDbXref MESH:C566906 semapv:UnspecifiedMatching DOID:0080205 CAKUT oboInOwl:hasDbXref OMIMPS:610805 semapv:UnspecifiedMatching +DOID:0080205 CAKUT oboInOwl:hasDbXref ORDO:93545 semapv:UnspecifiedMatching DOID:0080206 CAKUT1 oboInOwl:hasDbXref OMIM:610805 semapv:UnspecifiedMatching DOID:0080207 CAKUT2 oboInOwl:hasDbXref OMIM:143400 semapv:UnspecifiedMatching DOID:0080208 non-alcoholic fatty liver disease oboInOwl:hasDbXref MESH:D065626 semapv:UnspecifiedMatching DOID:0080208 non-alcoholic fatty liver disease oboInOwl:hasDbXref OMIM:613282 semapv:UnspecifiedMatching DOID:0080208 non-alcoholic fatty liver disease oboInOwl:hasDbXref OMIM:613387 semapv:UnspecifiedMatching DOID:0080209 sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay oboInOwl:hasDbXref OMIM:616084 semapv:UnspecifiedMatching -DOID:0080210 primary mediastinal B-cell lymphoma oboInOwl:hasDbXref ICD10CM:C85.2 semapv:UnspecifiedMatching DOID:0080210 primary mediastinal B-cell lymphoma oboInOwl:hasDbXref ORDO:98838 semapv:UnspecifiedMatching +DOID:0080210 primary mediastinal B-cell lymphoma oboInOwl:hasDbXref ICD10CM:C85.2 semapv:UnspecifiedMatching DOID:0080211 nodal marginal zone lymphoma oboInOwl:hasDbXref NCI:C8863 semapv:UnspecifiedMatching DOID:0080212 polycystic kidney disease 4 oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching DOID:0080213 punctate palmoplantar keratoderma type II oboInOwl:hasDbXref GARD:4439 semapv:UnspecifiedMatching @@ -4798,15 +4811,15 @@ DOID:0080217 lysosomal acid lipase deficiency oboInOwl:hasDbXref OMIM:278000 sem DOID:0080218 primary spontaneous pneumothorax oboInOwl:hasDbXref GARD:4997 semapv:UnspecifiedMatching DOID:0080218 primary spontaneous pneumothorax oboInOwl:hasDbXref OMIM:173600 semapv:UnspecifiedMatching DOID:0080219 dystransthyretinemic hyperthyroxinemia oboInOwl:hasDbXref OMIM:145680 semapv:UnspecifiedMatching -DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref GARD:10680 semapv:UnspecifiedMatching -DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref MESH:C548075 semapv:UnspecifiedMatching -DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref OMIM:603233 semapv:UnspecifiedMatching DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref ORDO:94089 semapv:UnspecifiedMatching +DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref OMIM:603233 semapv:UnspecifiedMatching +DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref MESH:C548075 semapv:UnspecifiedMatching +DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref GARD:10680 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref GARD:2826 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2199 semapv:UnspecifiedMatching -DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref GARD:2139 semapv:UnspecifiedMatching +DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching DOID:0080225 amyotrophic lateral sclerosis type 23 oboInOwl:hasDbXref OMIM:617839 semapv:UnspecifiedMatching DOID:0080226 autosomal dominant intellectual developmental disorder 56 oboInOwl:hasDbXref OMIM:617854 semapv:UnspecifiedMatching DOID:0080227 autosomal dominant intellectual developmental disorder 55 oboInOwl:hasDbXref OMIM:617831 semapv:UnspecifiedMatching @@ -4815,9 +4828,9 @@ DOID:0080230 autosomal dominant intellectual developmental disorder 54 oboInOwl: DOID:0080231 autosomal dominant intellectual developmental disorder 52 oboInOwl:hasDbXref OMIM:617796 semapv:UnspecifiedMatching DOID:0080232 autosomal dominant intellectual developmental disorder 51 oboInOwl:hasDbXref OMIM:617788 semapv:UnspecifiedMatching DOID:0080233 autosomal dominant intellectual developmental disorder 50 oboInOwl:hasDbXref OMIM:617787 semapv:UnspecifiedMatching +DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref OMIM:617752 semapv:UnspecifiedMatching DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref GARD:13584 semapv:UnspecifiedMatching DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref MESH:C536208 semapv:UnspecifiedMatching -DOID:0080234 Clark-Baraitser syndrome oboInOwl:hasDbXref OMIM:617752 semapv:UnspecifiedMatching DOID:0080235 autosomal dominant intellectual developmental disorder 48 oboInOwl:hasDbXref OMIM:617751 semapv:UnspecifiedMatching DOID:0080236 autosomal dominant intellectual developmental disorder 45 oboInOwl:hasDbXref OMIM:617600 semapv:UnspecifiedMatching DOID:0080237 autosomal dominant intellectual developmental disorder 46 oboInOwl:hasDbXref OMIM:617601 semapv:UnspecifiedMatching @@ -4893,19 +4906,19 @@ DOID:0080308 myofibrillar myopathy 8 oboInOwl:hasDbXref OMIM:617258 semapv:Unspe DOID:0080309 fatal infantile hypertonic myofibrillar myopathy oboInOwl:hasDbXref OMIM:613869 semapv:UnspecifiedMatching DOID:0080311 X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance oboInOwl:hasDbXref OMIM:300486 semapv:UnspecifiedMatching DOID:0080312 neurodevelopmental disorder with midbrain and hindbrain malformations oboInOwl:hasDbXref OMIM:617523 semapv:UnspecifiedMatching -DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ORDO:2016 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref UMLS_CUI:C0795898 semapv:UnspecifiedMatching -DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref MESH:C563047 semapv:UnspecifiedMatching DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref OMIM:119550 semapv:UnspecifiedMatching -DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS_CUI:C1838190 semapv:UnspecifiedMatching -DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS_CUI:C1865869 semapv:UnspecifiedMatching +DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref MESH:C563047 semapv:UnspecifiedMatching +DOID:0080313 cleft palate-lateral synechia syndrome oboInOwl:hasDbXref ORDO:2016 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref MESH:C566579 semapv:UnspecifiedMatching DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref OMIM:602093 semapv:UnspecifiedMatching -DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS_CUI:C1858854 semapv:UnspecifiedMatching -DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ORDO:2478 semapv:UnspecifiedMatching +DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS_CUI:C1838190 semapv:UnspecifiedMatching +DOID:0080314 cone-rod dystrophy 14 oboInOwl:hasDbXref UMLS_CUI:C1865869 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref GARD:3445 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref OMIMPS:604004 semapv:UnspecifiedMatching +DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref ORDO:2478 semapv:UnspecifiedMatching +DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts oboInOwl:hasDbXref UMLS_CUI:C1858854 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref MESH:C536141 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref OMIM:604004 semapv:UnspecifiedMatching DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 oboInOwl:hasDbXref UMLS_CUI:C1858854 semapv:UnspecifiedMatching @@ -4917,11 +4930,11 @@ DOID:0080324 tuberous sclerosis 1 oboInOwl:hasDbXref MESH:C565346 semapv:Unspeci DOID:0080324 tuberous sclerosis 1 oboInOwl:hasDbXref OMIM:191100 semapv:UnspecifiedMatching DOID:0080325 tuberous sclerosis 2 oboInOwl:hasDbXref MESH:C566021 semapv:UnspecifiedMatching DOID:0080325 tuberous sclerosis 2 oboInOwl:hasDbXref OMIM:613254 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0949658 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref OMIMPS:192600 semapv:UnspecifiedMatching -DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C84773 semapv:UnspecifiedMatching DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D024741 semapv:UnspecifiedMatching +DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C84773 semapv:UnspecifiedMatching +DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref OMIMPS:192600 semapv:UnspecifiedMatching +DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching +DOID:0080326 familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0949658 semapv:UnspecifiedMatching DOID:0080327 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly oboInOwl:hasDbXref OMIM:236500 semapv:UnspecifiedMatching DOID:0080328 Culler-Jones syndrome oboInOwl:hasDbXref GARD:13349 semapv:UnspecifiedMatching DOID:0080328 Culler-Jones syndrome oboInOwl:hasDbXref OMIM:615849 semapv:UnspecifiedMatching @@ -4933,10 +4946,10 @@ DOID:0080332 bicuspid aortic valve disease oboInOwl:hasDbXref OMIMPS:109730 sema DOID:0080332 bicuspid aortic valve disease oboInOwl:hasDbXref ORDO:402075 semapv:UnspecifiedMatching DOID:0080333 aortic valve disease 1 oboInOwl:hasDbXref OMIM:109730 semapv:UnspecifiedMatching DOID:0080334 aortic valve disease 2 oboInOwl:hasDbXref OMIM:614823 semapv:UnspecifiedMatching -DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref ORDO:1369 semapv:UnspecifiedMatching -DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref OMIM:615418 semapv:UnspecifiedMatching -DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref NCI:C129977 semapv:UnspecifiedMatching DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref GARD:1142 semapv:UnspecifiedMatching +DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref NCI:C129977 semapv:UnspecifiedMatching +DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref OMIM:615418 semapv:UnspecifiedMatching +DOID:0080335 mitochondrial DNA depletion syndrome 12b oboInOwl:hasDbXref ORDO:1369 semapv:UnspecifiedMatching DOID:0080336 mitochondrial DNA depletion syndrome 14 oboInOwl:hasDbXref OMIM:616896 semapv:UnspecifiedMatching DOID:0080337 mitochondrial DNA depletion syndrome 15 oboInOwl:hasDbXref OMIM:617156 semapv:UnspecifiedMatching DOID:0080338 familial erythrocytosis 3 oboInOwl:hasDbXref OMIM:609820 semapv:UnspecifiedMatching @@ -4949,9 +4962,9 @@ DOID:0080345 blepharocheilodontic syndrome 1 oboInOwl:hasDbXref OMIM:119580 sema DOID:0080346 blepharocheilodontic syndrome 2 oboInOwl:hasDbXref OMIM:617681 semapv:UnspecifiedMatching DOID:0080347 malignant pheochromocytoma oboInOwl:hasDbXref ICDO:8700/3 semapv:UnspecifiedMatching DOID:0080348 Alzheimer's disease 1 oboInOwl:hasDbXref OMIM:104300 semapv:UnspecifiedMatching -DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref ORDO:353217 semapv:UnspecifiedMatching -DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref OMIM:612949 semapv:UnspecifiedMatching DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref MESH:C567847 semapv:UnspecifiedMatching +DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref OMIM:612949 semapv:UnspecifiedMatching +DOID:0080349 developmental and epileptic encephalopathy 39 oboInOwl:hasDbXref ORDO:353217 semapv:UnspecifiedMatching DOID:0080350 retinitis pigmentosa 77 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0080350 retinitis pigmentosa 77 oboInOwl:hasDbXref OMIM:617304 semapv:UnspecifiedMatching DOID:0080351 CLOVES syndrome oboInOwl:hasDbXref GARD:10939 semapv:UnspecifiedMatching @@ -4974,15 +4987,15 @@ DOID:0080361 trimethylaminuria oboInOwl:hasDbXref MESH:C536561 semapv:Unspecifie DOID:0080361 trimethylaminuria oboInOwl:hasDbXref OMIM:602079 semapv:UnspecifiedMatching DOID:0080361 trimethylaminuria oboInOwl:hasDbXref ORDO:468726 semapv:UnspecifiedMatching DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:313400 semapv:UnspecifiedMatching -DOID:0080363 mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 semapv:UnspecifiedMatching DOID:0080363 mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref ORDO:447784 semapv:UnspecifiedMatching +DOID:0080363 mitochondrial pyruvate carrier deficiency oboInOwl:hasDbXref OMIM:614741 semapv:UnspecifiedMatching DOID:0080365 endometrial hyperplasia oboInOwl:hasDbXref MESH:D004714 semapv:UnspecifiedMatching DOID:0080367 chronic eosinophilic leukemia oboInOwl:hasDbXref ICDO:9964/3 semapv:UnspecifiedMatching DOID:0080367 chronic eosinophilic leukemia oboInOwl:hasDbXref NCI:C4563 semapv:UnspecifiedMatching DOID:0080369 ovarian sex-cord stromal tumor oboInOwl:hasDbXref NCI:C4862 semapv:UnspecifiedMatching DOID:0080370 ovarian sex cord-stromal benign neoplasm oboInOwl:hasDbXref NCI:C6803 semapv:UnspecifiedMatching -DOID:0080376 trichorhinophalangeal syndrome type III oboInOwl:hasDbXref ORDO:77258 semapv:UnspecifiedMatching DOID:0080376 trichorhinophalangeal syndrome type III oboInOwl:hasDbXref OMIM:190351 semapv:UnspecifiedMatching +DOID:0080376 trichorhinophalangeal syndrome type III oboInOwl:hasDbXref ORDO:77258 semapv:UnspecifiedMatching DOID:0080377 peroxisomal biogenesis disorder oboInOwl:hasDbXref OMIMPS:214100 semapv:UnspecifiedMatching DOID:0080379 nephrotic syndrome type 2 oboInOwl:hasDbXref OMIM:600995 semapv:UnspecifiedMatching DOID:0080380 nephrotic syndrome type 5 oboInOwl:hasDbXref OMIM:614199 semapv:UnspecifiedMatching @@ -4996,33 +5009,33 @@ DOID:0080387 nephrotic syndrome type 12 oboInOwl:hasDbXref OMIM:616892 semapv:Un DOID:0080388 nephrotic syndrome type 7 oboInOwl:hasDbXref OMIM:615008 semapv:UnspecifiedMatching DOID:0080388 nephrotic syndrome type 7 oboInOwl:hasDbXref ORDO:329903 semapv:UnspecifiedMatching DOID:0080389 nephrotic syndrome type 8 oboInOwl:hasDbXref OMIM:615244 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref ORDO:839 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C0403399 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref OMIM:256300 semapv:UnspecifiedMatching -DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref MEDDRA:10060740 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref GARD:1500 semapv:UnspecifiedMatching +DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref MEDDRA:10060740 semapv:UnspecifiedMatching DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref NCI:C122795 semapv:UnspecifiedMatching +DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref OMIM:256300 semapv:UnspecifiedMatching +DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref ORDO:839 semapv:UnspecifiedMatching +DOID:0080390 nephrotic syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C0403399 semapv:UnspecifiedMatching DOID:0080391 nephrotic syndrome type 9 oboInOwl:hasDbXref OMIM:615573 semapv:UnspecifiedMatching DOID:0080392 nephrotic syndrome type 17 oboInOwl:hasDbXref OMIM:618176 semapv:UnspecifiedMatching DOID:0080393 nephrotic syndrome type 18 oboInOwl:hasDbXref OMIM:618177 semapv:UnspecifiedMatching DOID:0080394 nephrotic syndrome type 19 oboInOwl:hasDbXref OMIM:618178 semapv:UnspecifiedMatching -DOID:0080395 orofacial cleft 1 oboInOwl:hasDbXref MESH:C566121 semapv:UnspecifiedMatching DOID:0080395 orofacial cleft 1 oboInOwl:hasDbXref OMIM:119530 semapv:UnspecifiedMatching +DOID:0080395 orofacial cleft 1 oboInOwl:hasDbXref MESH:C566121 semapv:UnspecifiedMatching DOID:0080396 orofacial cleft 2 oboInOwl:hasDbXref MESH:C566419 semapv:UnspecifiedMatching DOID:0080396 orofacial cleft 2 oboInOwl:hasDbXref OMIM:602966 semapv:UnspecifiedMatching DOID:0080397 orofacial cleft 3 oboInOwl:hasDbXref MESH:C563448 semapv:UnspecifiedMatching DOID:0080397 orofacial cleft 3 oboInOwl:hasDbXref OMIM:600757 semapv:UnspecifiedMatching -DOID:0080398 orofacial cleft 4 oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching DOID:0080398 orofacial cleft 4 oboInOwl:hasDbXref MESH:C564251 semapv:UnspecifiedMatching -DOID:0080399 orofacial cleft 5 oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching +DOID:0080398 orofacial cleft 4 oboInOwl:hasDbXref OMIM:608371 semapv:UnspecifiedMatching DOID:0080399 orofacial cleft 5 oboInOwl:hasDbXref MESH:C563843 semapv:UnspecifiedMatching +DOID:0080399 orofacial cleft 5 oboInOwl:hasDbXref OMIM:608874 semapv:UnspecifiedMatching DOID:0080400 orofacial cleft 7 oboInOwl:hasDbXref MESH:C563464 semapv:UnspecifiedMatching DOID:0080400 orofacial cleft 7 skos:exactMatch MESH:C563464 semapv:UnspecifiedMatching DOID:0080401 orofacial cleft 8 oboInOwl:hasDbXref OMIM:618149 semapv:UnspecifiedMatching DOID:0080402 orofacial cleft 9 oboInOwl:hasDbXref MESH:C563675 semapv:UnspecifiedMatching DOID:0080402 orofacial cleft 9 oboInOwl:hasDbXref OMIM:610361 semapv:UnspecifiedMatching -DOID:0080403 orofacial cleft 10 oboInOwl:hasDbXref MESH:C566605 semapv:UnspecifiedMatching DOID:0080403 orofacial cleft 10 oboInOwl:hasDbXref OMIM:613705 semapv:UnspecifiedMatching +DOID:0080403 orofacial cleft 10 oboInOwl:hasDbXref MESH:C566605 semapv:UnspecifiedMatching DOID:0080404 orofacial cleft 11 oboInOwl:hasDbXref MESH:C567410 semapv:UnspecifiedMatching DOID:0080404 orofacial cleft 11 oboInOwl:hasDbXref OMIM:600625 semapv:UnspecifiedMatching DOID:0080405 orofacial cleft 12 oboInOwl:hasDbXref MESH:C567548 semapv:UnspecifiedMatching @@ -5036,22 +5049,22 @@ DOID:0080410 familial adenomatous polyposis 2 oboInOwl:hasDbXref OMIM:608456 sem DOID:0080410 familial adenomatous polyposis 2 oboInOwl:hasDbXref ORDO:247798 semapv:UnspecifiedMatching DOID:0080411 familial adenomatous polyposis 3 oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching DOID:0080412 familial adenomatous polyposis 4 oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching -DOID:0080413 developmental and epileptic encephalopathy 18 oboInOwl:hasDbXref GARD:13676 semapv:UnspecifiedMatching DOID:0080413 developmental and epileptic encephalopathy 18 oboInOwl:hasDbXref OMIM:615476 semapv:UnspecifiedMatching +DOID:0080413 developmental and epileptic encephalopathy 18 oboInOwl:hasDbXref GARD:13676 semapv:UnspecifiedMatching DOID:0080414 developmental and epileptic encephalopathy 15 oboInOwl:hasDbXref OMIM:615006 semapv:UnspecifiedMatching DOID:0080415 developmental and epileptic encephalopathy 23 oboInOwl:hasDbXref OMIM:615859 semapv:UnspecifiedMatching DOID:0080415 developmental and epileptic encephalopathy 23 oboInOwl:hasDbXref ORDO:411986 semapv:UnspecifiedMatching DOID:0080416 developmental and epileptic encephalopathy 32 oboInOwl:hasDbXref OMIM:616366 semapv:UnspecifiedMatching DOID:0080417 developmental and epileptic encephalopathy 38 oboInOwl:hasDbXref OMIM:617020 semapv:UnspecifiedMatching DOID:0080418 developmental and epileptic encephalopathy 54 oboInOwl:hasDbXref OMIM:617391 semapv:UnspecifiedMatching -DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref ORDO:448010 semapv:UnspecifiedMatching -DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref OMIM:616457 semapv:UnspecifiedMatching DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref GARD:13621 semapv:UnspecifiedMatching +DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref OMIM:616457 semapv:UnspecifiedMatching +DOID:0080419 developmental and epileptic encephalopathy 50 oboInOwl:hasDbXref ORDO:448010 semapv:UnspecifiedMatching DOID:0080420 developmental and epileptic encephalopathy 62 oboInOwl:hasDbXref OMIM:617938 semapv:UnspecifiedMatching DOID:0080421 developmental and epileptic encephalopathy 11 oboInOwl:hasDbXref OMIM:613721 semapv:UnspecifiedMatching +DOID:0080422 Dravet syndrome oboInOwl:hasDbXref ORDO:33069 semapv:UnspecifiedMatching DOID:0080422 Dravet syndrome oboInOwl:hasDbXref GARD:10430 semapv:UnspecifiedMatching DOID:0080422 Dravet syndrome oboInOwl:hasDbXref OMIM:607208 semapv:UnspecifiedMatching -DOID:0080422 Dravet syndrome oboInOwl:hasDbXref ORDO:33069 semapv:UnspecifiedMatching DOID:0080424 developmental and epileptic encephalopathy 44 oboInOwl:hasDbXref OMIM:617132 semapv:UnspecifiedMatching DOID:0080425 developmental and epileptic encephalopathy 47 oboInOwl:hasDbXref OMIM:617166 semapv:UnspecifiedMatching DOID:0080426 developmental and epileptic encephalopathy 63 oboInOwl:hasDbXref OMIM:617976 semapv:UnspecifiedMatching @@ -5077,8 +5090,8 @@ DOID:0080445 developmental and epileptic encephalopathy 13 oboInOwl:hasDbXref OM DOID:0080446 developmental and epileptic encephalopathy 66 oboInOwl:hasDbXref OMIM:618067 semapv:UnspecifiedMatching DOID:0080447 developmental and epileptic encephalopathy 43 oboInOwl:hasDbXref OMIM:617113 semapv:UnspecifiedMatching DOID:0080448 developmental and epileptic encephalopathy 48 oboInOwl:hasDbXref OMIM:617276 semapv:UnspecifiedMatching -DOID:0080449 developmental and epileptic encephalopathy 16 oboInOwl:hasDbXref ORDO:352596 semapv:UnspecifiedMatching DOID:0080449 developmental and epileptic encephalopathy 16 oboInOwl:hasDbXref OMIM:615338 semapv:UnspecifiedMatching +DOID:0080449 developmental and epileptic encephalopathy 16 oboInOwl:hasDbXref ORDO:352596 semapv:UnspecifiedMatching DOID:0080450 developmental and epileptic encephalopathy 17 oboInOwl:hasDbXref OMIM:615473 semapv:UnspecifiedMatching DOID:0080451 developmental and epileptic encephalopathy 29 oboInOwl:hasDbXref OMIM:616339 semapv:UnspecifiedMatching DOID:0080452 developmental and epileptic encephalopathy 28 oboInOwl:hasDbXref OMIM:616211 semapv:UnspecifiedMatching @@ -5092,8 +5105,8 @@ DOID:0080458 developmental and epileptic encephalopathy 35 oboInOwl:hasDbXref OM DOID:0080458 developmental and epileptic encephalopathy 35 oboInOwl:hasDbXref ORDO:457375 semapv:UnspecifiedMatching DOID:0080459 developmental and epileptic encephalopathy 12 oboInOwl:hasDbXref OMIM:613722 semapv:UnspecifiedMatching DOID:0080460 developmental and epileptic encephalopathy 34 oboInOwl:hasDbXref OMIM:616645 semapv:UnspecifiedMatching -DOID:0080461 developmental and epileptic encephalopathy 26 oboInOwl:hasDbXref OMIM:616056 semapv:UnspecifiedMatching DOID:0080461 developmental and epileptic encephalopathy 26 oboInOwl:hasDbXref GARD:12391 semapv:UnspecifiedMatching +DOID:0080461 developmental and epileptic encephalopathy 26 oboInOwl:hasDbXref OMIM:616056 semapv:UnspecifiedMatching DOID:0080462 developmental and epileptic encephalopathy 7 oboInOwl:hasDbXref OMIM:613720 semapv:UnspecifiedMatching DOID:0080462 developmental and epileptic encephalopathy 7 oboInOwl:hasDbXref ORDO:439218 semapv:UnspecifiedMatching DOID:0080463 developmental and epileptic encephalopathy 33 oboInOwl:hasDbXref OMIM:616409 semapv:UnspecifiedMatching @@ -5107,9 +5120,9 @@ DOID:0080470 developmental and epileptic encephalopathy 36 oboInOwl:hasDbXref OR DOID:0080471 developmental and epileptic encephalopathy 92 oboInOwl:hasDbXref OMIM:617829 semapv:UnspecifiedMatching DOID:0080472 developmental and epileptic encephalopathy 91 oboInOwl:hasDbXref OMIM:617711 semapv:UnspecifiedMatching DOID:0080473 developmental delay and seizures with or without movement abnormalities oboInOwl:hasDbXref OMIM:617836 semapv:UnspecifiedMatching -DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref ORDO:404546 semapv:UnspecifiedMatching -DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref ICD10CM:L40.1 semapv:UnspecifiedMatching +DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching +DOID:0080474 pustular psoriasis 14 oboInOwl:hasDbXref ORDO:404546 semapv:UnspecifiedMatching DOID:0080475 psoriasis 2 oboInOwl:hasDbXref OMIM:602723 semapv:UnspecifiedMatching DOID:0080476 peroxisome biogenesis disorder 1A oboInOwl:hasDbXref OMIM:214100 semapv:UnspecifiedMatching DOID:0080477 peroxisome biogenesis disorder 2A oboInOwl:hasDbXref OMIM:214110 semapv:UnspecifiedMatching @@ -5123,9 +5136,9 @@ DOID:0080484 peroxisome biogenesis disorder 10A oboInOwl:hasDbXref OMIM:614882 s DOID:0080485 peroxisome biogenesis disorder 11A oboInOwl:hasDbXref OMIM:614883 semapv:UnspecifiedMatching DOID:0080486 peroxisome biogenesis disorder 12A oboInOwl:hasDbXref OMIM:614886 semapv:UnspecifiedMatching DOID:0080487 peroxisome biogenesis disorder 13A oboInOwl:hasDbXref OMIM:614887 semapv:UnspecifiedMatching -DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ORDO:79257 semapv:UnspecifiedMatching -DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref GARD:2431 semapv:UnspecifiedMatching +DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref OMIM:230650 semapv:UnspecifiedMatching +DOID:0080489 GM1 gangliosidosis type 3 oboInOwl:hasDbXref ORDO:79257 semapv:UnspecifiedMatching DOID:0080490 mucolipidosis type IV oboInOwl:hasDbXref GARD:94 semapv:UnspecifiedMatching DOID:0080490 mucolipidosis type IV oboInOwl:hasDbXref OMIM:252650 semapv:UnspecifiedMatching DOID:0080490 mucolipidosis type IV oboInOwl:hasDbXref ORDO:578 semapv:UnspecifiedMatching @@ -5165,49 +5178,49 @@ DOID:0080519 PAPA syndrome oboInOwl:hasDbXref ORDO:69126 semapv:UnspecifiedMatch DOID:0080520 Tn polyagglutination syndrome oboInOwl:hasDbXref OMIM:300622 semapv:UnspecifiedMatching DOID:0080521 lung non-squamous non-small cell carcinoma oboInOwl:hasDbXref NCI:C135017 semapv:UnspecifiedMatching DOID:0080522 thyroid gland anaplastic carcinoma oboInOwl:hasDbXref NCI:C3878 semapv:UnspecifiedMatching -DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref GARD:10981 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ORDO:313808 semapv:UnspecifiedMatching +DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref GARD:10981 semapv:UnspecifiedMatching DOID:0080524 thyroid gland adenocarcinoma oboInOwl:hasDbXref NCI:C27380 semapv:UnspecifiedMatching DOID:0080525 differentiated thyroid gland carcinoma oboInOwl:hasDbXref NCI:C7153 semapv:UnspecifiedMatching DOID:0080526 bronchiectasis 1 oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching DOID:0080527 bronchiectasis 2 oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatching DOID:0080528 bronchiectasis 3 oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching DOID:0080530 granular corneal dystrophy 1 oboInOwl:hasDbXref OMIM:121900 semapv:UnspecifiedMatching -DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref ORDO:99970 semapv:UnspecifiedMatching DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref ICDO:8858/3 semapv:UnspecifiedMatching DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref NCI:C3704 semapv:UnspecifiedMatching +DOID:0080531 dedifferentiated liposarcoma oboInOwl:hasDbXref ORDO:99970 semapv:UnspecifiedMatching DOID:0080532 Smarca4-deficient sarcoma of thorax oboInOwl:hasDbXref ORDO:466962 semapv:UnspecifiedMatching +DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref ORDO:97286 semapv:UnspecifiedMatching DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref GARD:10643 semapv:UnspecifiedMatching DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref MESH:C564650 semapv:UnspecifiedMatching DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref OMIM:606864 semapv:UnspecifiedMatching -DOID:0080533 Carney-Stratakis syndrome oboInOwl:hasDbXref ORDO:97286 semapv:UnspecifiedMatching -DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref ICDO:8811/3 semapv:UnspecifiedMatching -DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref NCI:C6496 semapv:UnspecifiedMatching DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref ORDO:79105 semapv:UnspecifiedMatching +DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref NCI:C6496 semapv:UnspecifiedMatching +DOID:0080534 myxofibrosarcoma oboInOwl:hasDbXref ICDO:8811/3 semapv:UnspecifiedMatching DOID:0080535 hypermanganesemia with dystonia oboInOwl:hasDbXref OMIMPS:613280 semapv:UnspecifiedMatching DOID:0080536 hypermanganesemia with dystonia 1 oboInOwl:hasDbXref OMIM:613280 semapv:UnspecifiedMatching DOID:0080537 hypermanganesemia with dystonia 2 oboInOwl:hasDbXref OMIM:617013 semapv:UnspecifiedMatching DOID:0080538 Sweeney-Cox syndrome oboInOwl:hasDbXref OMIM:617746 semapv:UnspecifiedMatching -DOID:0080539 PEHO syndrome oboInOwl:hasDbXref ORDO:2836 semapv:UnspecifiedMatching -DOID:0080539 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching DOID:0080539 PEHO syndrome oboInOwl:hasDbXref GARD:4264 semapv:UnspecifiedMatching DOID:0080539 PEHO syndrome oboInOwl:hasDbXref MESH:C536317 semapv:UnspecifiedMatching +DOID:0080539 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching +DOID:0080539 PEHO syndrome oboInOwl:hasDbXref ORDO:2836 semapv:UnspecifiedMatching DOID:0080540 galactosialidosis oboInOwl:hasDbXref GARD:3953 semapv:UnspecifiedMatching DOID:0080540 galactosialidosis oboInOwl:hasDbXref OMIM:256540 semapv:UnspecifiedMatching DOID:0080541 hyperprolinemia oboInOwl:hasDbXref GARD:2847 semapv:UnspecifiedMatching DOID:0080542 hyperprolinemia type 1 oboInOwl:hasDbXref OMIM:239500 semapv:UnspecifiedMatching DOID:0080542 hyperprolinemia type 1 oboInOwl:hasDbXref ORDO:419 semapv:UnspecifiedMatching -DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 semapv:UnspecifiedMatching -DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 semapv:UnspecifiedMatching DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref ORDO:79101 semapv:UnspecifiedMatching +DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref OMIM:239510 semapv:UnspecifiedMatching +DOID:0080543 hyperprolinemia type 2 oboInOwl:hasDbXref MESH:C538385 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref NCI:C3990 semapv:UnspecifiedMatching DOID:0080544 hyper IgM syndrome oboInOwl:hasDbXref OMIMPS:308230 semapv:UnspecifiedMatching -DOID:0080545 hyper IgE syndrome oboInOwl:hasDbXref OMIMPS:147060 semapv:UnspecifiedMatching DOID:0080545 hyper IgE syndrome oboInOwl:hasDbXref GARD:10956 semapv:UnspecifiedMatching +DOID:0080545 hyper IgE syndrome oboInOwl:hasDbXref OMIMPS:147060 semapv:UnspecifiedMatching DOID:0080548 Noonan syndrome with multiple lentigines 1 oboInOwl:hasDbXref OMIM:151100 semapv:UnspecifiedMatching -DOID:0080549 Noonan syndrome with multiple lentigines 2 oboInOwl:hasDbXref OMIM:611554 semapv:UnspecifiedMatching DOID:0080549 Noonan syndrome with multiple lentigines 2 oboInOwl:hasDbXref MESH:C537117 semapv:UnspecifiedMatching +DOID:0080549 Noonan syndrome with multiple lentigines 2 oboInOwl:hasDbXref OMIM:611554 semapv:UnspecifiedMatching DOID:0080550 Noonan syndrome with multiple lentigines 3 oboInOwl:hasDbXref OMIM:613707 semapv:UnspecifiedMatching DOID:0080551 Naxos disease oboInOwl:hasDbXref GARD:9795 semapv:UnspecifiedMatching DOID:0080551 Naxos disease oboInOwl:hasDbXref MESH:C538346 semapv:UnspecifiedMatching @@ -5217,12 +5230,12 @@ DOID:0080552 congenital disorder of glycosylation Ia oboInOwl:hasDbXref GARD:982 DOID:0080552 congenital disorder of glycosylation Ia oboInOwl:hasDbXref OMIM:212065 semapv:UnspecifiedMatching DOID:0080552 congenital disorder of glycosylation Ia oboInOwl:hasDbXref ORDO:79318 semapv:UnspecifiedMatching DOID:0080553 congenital disorder of glycosylation Iaa oboInOwl:hasDbXref OMIM:617082 semapv:UnspecifiedMatching +DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref GARD:9830 semapv:UnspecifiedMatching DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref OMIM:602579 semapv:UnspecifiedMatching DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref ORDO:79319 semapv:UnspecifiedMatching -DOID:0080554 congenital disorder of glycosylation Ib oboInOwl:hasDbXref GARD:9830 semapv:UnspecifiedMatching +DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref GARD:9829 semapv:UnspecifiedMatching DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref OMIM:603147 semapv:UnspecifiedMatching DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref ORDO:79320 semapv:UnspecifiedMatching -DOID:0080555 congenital disorder of glycosylation Ic oboInOwl:hasDbXref GARD:9829 semapv:UnspecifiedMatching DOID:0080556 congenital disorder of glycosylation Id oboInOwl:hasDbXref GARD:9827 semapv:UnspecifiedMatching DOID:0080556 congenital disorder of glycosylation Id oboInOwl:hasDbXref OMIM:601110 semapv:UnspecifiedMatching DOID:0080556 congenital disorder of glycosylation Id oboInOwl:hasDbXref ORDO:79321 semapv:UnspecifiedMatching @@ -5232,44 +5245,44 @@ DOID:0080557 congenital disorder of glycosylation Ie oboInOwl:hasDbXref ORDO:793 DOID:0080558 congenital disorder of glycosylation If oboInOwl:hasDbXref GARD:9832 semapv:UnspecifiedMatching DOID:0080558 congenital disorder of glycosylation If oboInOwl:hasDbXref OMIM:609180 semapv:UnspecifiedMatching DOID:0080558 congenital disorder of glycosylation If oboInOwl:hasDbXref ORDO:79323 semapv:UnspecifiedMatching +DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref ORDO:79324 semapv:UnspecifiedMatching DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref GARD:9833 semapv:UnspecifiedMatching DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref OMIM:607143 semapv:UnspecifiedMatching -DOID:0080559 congenital disorder of glycosylation Ig oboInOwl:hasDbXref ORDO:79324 semapv:UnspecifiedMatching +DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref GARD:9834 semapv:UnspecifiedMatching DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref OMIM:608104 semapv:UnspecifiedMatching DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref ORDO:79325 semapv:UnspecifiedMatching -DOID:0080560 congenital disorder of glycosylation Ih oboInOwl:hasDbXref GARD:9834 semapv:UnspecifiedMatching DOID:0080561 congenital disorder of glycosylation Ii oboInOwl:hasDbXref GARD:9836 semapv:UnspecifiedMatching DOID:0080561 congenital disorder of glycosylation Ii oboInOwl:hasDbXref OMIM:607906 semapv:UnspecifiedMatching DOID:0080561 congenital disorder of glycosylation Ii oboInOwl:hasDbXref ORDO:79326 semapv:UnspecifiedMatching DOID:0080562 congenital disorder of glycosylation Ij oboInOwl:hasDbXref GARD:9837 semapv:UnspecifiedMatching DOID:0080562 congenital disorder of glycosylation Ij oboInOwl:hasDbXref OMIM:608093 semapv:UnspecifiedMatching DOID:0080562 congenital disorder of glycosylation Ij oboInOwl:hasDbXref ORDO:86309 semapv:UnspecifiedMatching -DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref OMIM:608540 semapv:UnspecifiedMatching -DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref GARD:9838 semapv:UnspecifiedMatching DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref ORDO:79327 semapv:UnspecifiedMatching -DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref GARD:9839 semapv:UnspecifiedMatching -DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref OMIM:608776 semapv:UnspecifiedMatching +DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref GARD:9838 semapv:UnspecifiedMatching +DOID:0080563 congenital disorder of glycosylation Ik oboInOwl:hasDbXref OMIM:608540 semapv:UnspecifiedMatching DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref ORDO:79328 semapv:UnspecifiedMatching +DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref OMIM:608776 semapv:UnspecifiedMatching +DOID:0080564 congenital disorder of glycosylation Il oboInOwl:hasDbXref GARD:9839 semapv:UnspecifiedMatching +DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref GARD:12393 semapv:UnspecifiedMatching DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref OMIM:610768 semapv:UnspecifiedMatching DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref ORDO:91131 semapv:UnspecifiedMatching -DOID:0080565 congenital disorder of glycosylation Im oboInOwl:hasDbXref GARD:12393 semapv:UnspecifiedMatching -DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref ORDO:244310 semapv:UnspecifiedMatching DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref GARD:12394 semapv:UnspecifiedMatching DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref OMIM:612015 semapv:UnspecifiedMatching +DOID:0080566 congenital disorder of glycosylation In oboInOwl:hasDbXref ORDO:244310 semapv:UnspecifiedMatching DOID:0080567 congenital disorder of glycosylation Ip oboInOwl:hasDbXref GARD:12396 semapv:UnspecifiedMatching DOID:0080567 congenital disorder of glycosylation Ip oboInOwl:hasDbXref OMIM:613661 semapv:UnspecifiedMatching DOID:0080567 congenital disorder of glycosylation Ip oboInOwl:hasDbXref ORDO:280071 semapv:UnspecifiedMatching DOID:0080568 congenital disorder of glycosylation Iq oboInOwl:hasDbXref GARD:12397 semapv:UnspecifiedMatching DOID:0080568 congenital disorder of glycosylation Iq oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching DOID:0080568 congenital disorder of glycosylation Iq oboInOwl:hasDbXref ORDO:324737 semapv:UnspecifiedMatching -DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref GARD:12398 semapv:UnspecifiedMatching DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref OMIM:614507 semapv:UnspecifiedMatching DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref ORDO:300536 semapv:UnspecifiedMatching +DOID:0080569 congenital disorder of glycosylation Ir oboInOwl:hasDbXref GARD:12398 semapv:UnspecifiedMatching DOID:0080570 congenital disorder of glycosylation It oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching DOID:0080570 congenital disorder of glycosylation It oboInOwl:hasDbXref ORDO:319646 semapv:UnspecifiedMatching +DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref GARD:12416 semapv:UnspecifiedMatching DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref OMIM:615042 semapv:UnspecifiedMatching DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref ORDO:329178 semapv:UnspecifiedMatching -DOID:0080571 congenital disorder of glycosylation Iu oboInOwl:hasDbXref GARD:12416 semapv:UnspecifiedMatching DOID:0080572 congenital disorder of glycosylation Iw oboInOwl:hasDbXref OMIM:615596 semapv:UnspecifiedMatching DOID:0080572 congenital disorder of glycosylation Iw oboInOwl:hasDbXref ORDO:370921 semapv:UnspecifiedMatching DOID:0080573 congenital disorder of glycosylation Ix oboInOwl:hasDbXref OMIM:615597 semapv:UnspecifiedMatching @@ -5279,14 +5292,14 @@ DOID:0080574 congenital disorder of glycosylation Iy oboInOwl:hasDbXref OMIM:300 DOID:0080574 congenital disorder of glycosylation Iy oboInOwl:hasDbXref ORDO:370927 semapv:UnspecifiedMatching DOID:0080575 Larsen-like syndrome B3GAT3 type oboInOwl:hasDbXref OMIM:245600 semapv:UnspecifiedMatching DOID:0080575 Larsen-like syndrome B3GAT3 type oboInOwl:hasDbXref ORDO:284139 semapv:UnspecifiedMatching -DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref MESH:C535785 semapv:UnspecifiedMatching +DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref ORDO:168454 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref OMIM:610442 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref GARD:10057 semapv:UnspecifiedMatching -DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref ORDO:168454 semapv:UnspecifiedMatching -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching +DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref MESH:C535785 semapv:UnspecifiedMatching DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref MESH:C535308 semapv:UnspecifiedMatching -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching +DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref MESH:C535309 semapv:UnspecifiedMatching +DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching DOID:0080582 hypotrichosis 14 oboInOwl:hasDbXref OMIM:618275 semapv:UnspecifiedMatching DOID:0080583 Wolfram syndrome, mitochondrial form oboInOwl:hasDbXref MESH:C564012 semapv:UnspecifiedMatching DOID:0080583 Wolfram syndrome, mitochondrial form oboInOwl:hasDbXref OMIM:598500 semapv:UnspecifiedMatching @@ -5301,9 +5314,9 @@ DOID:0080591 Klippel-Feil syndrome 3 oboInOwl:hasDbXref OMIM:613702 semapv:Unspe DOID:0080592 Klippel-Feil syndrome 4 oboInOwl:hasDbXref OMIM:616549 semapv:UnspecifiedMatching DOID:0080592 Klippel-Feil syndrome 4 oboInOwl:hasDbXref ORDO:447974 semapv:UnspecifiedMatching DOID:0080593 orofacial cleft 6 oboInOwl:hasDbXref OMIM:608864 semapv:UnspecifiedMatching -DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref ORDO:217390 semapv:UnspecifiedMatching DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref GARD:2816 semapv:UnspecifiedMatching DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref OMIM:243700 semapv:UnspecifiedMatching +DOID:0080594 hyper IgE recurrent infection syndrome 2 oboInOwl:hasDbXref ORDO:217390 semapv:UnspecifiedMatching DOID:0080595 hyper IgE recurrent infection syndrome 3 oboInOwl:hasDbXref OMIM:618282 semapv:UnspecifiedMatching DOID:0080596 hyper IgE recurrent infection syndrome 4 oboInOwl:hasDbXref OMIM:618523 semapv:UnspecifiedMatching DOID:0080597 Kleefstra syndrome oboInOwl:hasDbXref OMIMPS:610253 semapv:UnspecifiedMatching @@ -5313,8 +5326,8 @@ DOID:0080600 COVID-19 oboInOwl:hasDbXref ICD10CM:U07.1 semapv:UnspecifiedMatchin DOID:0080600 COVID-19 oboInOwl:hasDbXref MESH:D000086382 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref NCI:C171133 semapv:UnspecifiedMatching DOID:0080600 COVID-19 oboInOwl:hasDbXref UMLS_CUI:C5203670 semapv:UnspecifiedMatching -DOID:0080602 benign teratoma oboInOwl:hasDbXref ICDO:9080/1 semapv:UnspecifiedMatching DOID:0080602 benign teratoma oboInOwl:hasDbXref NCI:C67107 semapv:UnspecifiedMatching +DOID:0080602 benign teratoma oboInOwl:hasDbXref ICDO:9080/1 semapv:UnspecifiedMatching DOID:0080603 ankylosing spondylitis 1 oboInOwl:hasDbXref OMIM:106300 semapv:UnspecifiedMatching DOID:0080604 ankylosing spondylitis 2 oboInOwl:hasDbXref OMIM:183840 semapv:UnspecifiedMatching DOID:0080605 ankylosing spondylitis 3 oboInOwl:hasDbXref OMIM:613238 semapv:UnspecifiedMatching @@ -5343,9 +5356,9 @@ DOID:0080627 alopecia-mental retardation syndrome oboInOwl:hasDbXref ORDO:2850 s DOID:0080628 alopecia-mental retardation syndrome 1 oboInOwl:hasDbXref OMIM:203650 semapv:UnspecifiedMatching DOID:0080629 alopecia-mental retardation syndrome 2 oboInOwl:hasDbXref MESH:C563668 semapv:UnspecifiedMatching DOID:0080629 alopecia-mental retardation syndrome 2 oboInOwl:hasDbXref OMIM:610422 semapv:UnspecifiedMatching -DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref ICDO:9836/3 semapv:UnspecifiedMatching -DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8936 semapv:UnspecifiedMatching DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS_CUI:C0862030 semapv:UnspecifiedMatching +DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8936 semapv:UnspecifiedMatching +DOID:0080630 B-lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref ICDO:9836/3 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref GARD:955 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching DOID:0080631 Elsahy-Waters syndrome oboInOwl:hasDbXref ORDO:1299 semapv:UnspecifiedMatching @@ -5365,8 +5378,8 @@ DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 oboInOwl:hasDbXref DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 oboInOwl:hasDbXref NCI:C80331 semapv:UnspecifiedMatching DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged oboInOwl:hasDbXref ICDO:9813/3 semapv:UnspecifiedMatching DOID:0080644 B-lymphoblastic leukemia/lymphoma MLL rearranged oboInOwl:hasDbXref NCI:C80342 semapv:UnspecifiedMatching -DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 oboInOwl:hasDbXref NCI:C80343 semapv:UnspecifiedMatching DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 oboInOwl:hasDbXref ICDO:9814/3 semapv:UnspecifiedMatching +DOID:0080645 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 oboInOwl:hasDbXref NCI:C80343 semapv:UnspecifiedMatching DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICDO:9815/3 semapv:UnspecifiedMatching DOID:0080646 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref NCI:C80335 semapv:UnspecifiedMatching DOID:0080647 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICDO:9816/3 semapv:UnspecifiedMatching @@ -5381,19 +5394,19 @@ DOID:0080652 calcium oxalate nephrolithiasis oboInOwl:hasDbXref OMIM:167030 sema DOID:0080653 urolithiasis oboInOwl:hasDbXref MESH:D052878 semapv:UnspecifiedMatching DOID:0080654 uric acid urolithiasis oboInOwl:hasDbXref NCI:C123245 semapv:UnspecifiedMatching DOID:0080654 uric acid urolithiasis oboInOwl:hasDbXref OMIM:191700 semapv:UnspecifiedMatching -DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis oboInOwl:hasDbXref OMIMPS:612286 semapv:UnspecifiedMatching DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis oboInOwl:hasDbXref KEGG:H00888 semapv:UnspecifiedMatching +DOID:0080655 hypophosphatemic nephrolithiasis/osteoporosis oboInOwl:hasDbXref OMIMPS:612286 semapv:UnspecifiedMatching DOID:0080656 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref NCI:C120199 semapv:UnspecifiedMatching DOID:0080656 45,X/46,XY mixed gonadal dysgenesis oboInOwl:hasDbXref ORDO:1772 semapv:UnspecifiedMatching DOID:0080661 nonsyndromic aplasia cutis congenita oboInOwl:hasDbXref OMIM:107600 semapv:UnspecifiedMatching DOID:0080662 atrial standstill 1 oboInOwl:hasDbXref OMIM:108770 semapv:UnspecifiedMatching DOID:0080662 atrial standstill 1 oboInOwl:hasDbXref ORDO:1344 semapv:UnspecifiedMatching DOID:0080663 atrial standstill 2 oboInOwl:hasDbXref OMIM:615745 semapv:UnspecifiedMatching -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref GARD:10072 semapv:UnspecifiedMatching +DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref ORDO:85182 semapv:UnspecifiedMatching +DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref OMIM:112250 semapv:UnspecifiedMatching DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref MESH:C536169 semapv:UnspecifiedMatching +DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref GARD:10072 semapv:UnspecifiedMatching DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref NCI:C122660 semapv:UnspecifiedMatching -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref OMIM:112250 semapv:UnspecifiedMatching -DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma oboInOwl:hasDbXref ORDO:85182 semapv:UnspecifiedMatching DOID:0080665 warfarin resistance oboInOwl:hasDbXref GARD:12721 semapv:UnspecifiedMatching DOID:0080665 warfarin resistance oboInOwl:hasDbXref OMIM:122700 semapv:UnspecifiedMatching DOID:0080666 warfarin sensitivity oboInOwl:hasDbXref MESH:C567080 semapv:UnspecifiedMatching @@ -5402,8 +5415,8 @@ DOID:0080670 Meesmann corneal dystrophy 1 oboInOwl:hasDbXref OMIM:122100 semapv: DOID:0080671 Meesmann corneal dystrophy 2 oboInOwl:hasDbXref OMIM:618767 semapv:UnspecifiedMatching DOID:0080672 fibrochondrogenesis 1 oboInOwl:hasDbXref OMIM:228520 semapv:UnspecifiedMatching DOID:0080673 fibrochondrogenesis 2 oboInOwl:hasDbXref OMIM:614524 semapv:UnspecifiedMatching -DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref NCI:C53555 semapv:UnspecifiedMatching DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref UMLS_CUI:C3642346 semapv:UnspecifiedMatching +DOID:0080674 luminal breast carcinoma B oboInOwl:hasDbXref NCI:C53555 semapv:UnspecifiedMatching DOID:0080675 Stickler syndrome 2 oboInOwl:hasDbXref OMIM:604841 semapv:UnspecifiedMatching DOID:0080676 Stickler syndrome 1 oboInOwl:hasDbXref OMIM:108300 semapv:UnspecifiedMatching DOID:0080676 Stickler syndrome 1 oboInOwl:hasDbXref ORDO:90653 semapv:UnspecifiedMatching @@ -5413,8 +5426,8 @@ DOID:0080678 mucolipidosis III gamma oboInOwl:hasDbXref OMIM:252605 semapv:Unspe DOID:0080678 mucolipidosis III gamma oboInOwl:hasDbXref ORDO:423470 semapv:UnspecifiedMatching DOID:0080679 neuronal intestinal dysplasia type A oboInOwl:hasDbXref OMIM:243180 semapv:UnspecifiedMatching DOID:0080680 neuronal intestinal dysplasia type B oboInOwl:hasDbXref OMIM:601223 semapv:UnspecifiedMatching -DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction oboInOwl:hasDbXref GARD:3017 semapv:UnspecifiedMatching +DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction oboInOwl:hasDbXref OMIM:300048 semapv:UnspecifiedMatching DOID:0080682 autosomal dominant familial visceral neuropathy oboInOwl:hasDbXref OMIM:609629 semapv:UnspecifiedMatching DOID:0080683 nonsyndromic congenital nail disorder oboInOwl:hasDbXref OMIMPS:161050 semapv:UnspecifiedMatching DOID:0080684 diffuse midline glioma, H3 K27M-mutant oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching @@ -5422,28 +5435,28 @@ DOID:0080684 diffuse midline glioma, H3 K27M-mutant oboInOwl:hasDbXref NCI:C1293 DOID:0080686 tubular aggregate myopathy 2 oboInOwl:hasDbXref OMIM:615883 semapv:UnspecifiedMatching DOID:0080686 tubular aggregate myopathy 2 skos:narrowMatch ORDO:2593 semapv:UnspecifiedMatching DOID:0080687 reducing body myopathy 1B oboInOwl:hasDbXref OMIM:300718 semapv:UnspecifiedMatching +DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ORDO:1052 semapv:UnspecifiedMatching +DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIMPS:257300 semapv:UnspecifiedMatching DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref GARD:3007 semapv:UnspecifiedMatching DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref MESH:C536987 semapv:UnspecifiedMatching -DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref OMIMPS:257300 semapv:UnspecifiedMatching -DOID:0080688 mosaic variegated aneuploidy syndrome oboInOwl:hasDbXref ORDO:1052 semapv:UnspecifiedMatching DOID:0080689 mosaic variegated aneuploidy syndrome 3 oboInOwl:hasDbXref OMIM:617598 semapv:UnspecifiedMatching -DOID:0080691 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ORDO:2701 semapv:UnspecifiedMatching DOID:0080691 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref GARD:10719 semapv:UnspecifiedMatching +DOID:0080691 Noonan syndrome-like disorder with loose anagen hair oboInOwl:hasDbXref ORDO:2701 semapv:UnspecifiedMatching DOID:0080692 Noonan syndrome-like disorder with loose anagen hair 1 oboInOwl:hasDbXref OMIM:607721 semapv:UnspecifiedMatching DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 oboInOwl:hasDbXref OMIM:617506 semapv:UnspecifiedMatching +DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS_CUI:C0795949 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref GARD:65 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref MESH:C537548 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref NCI:C132195 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref OMIMPS:251300 semapv:UnspecifiedMatching DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref ORDO:2065 semapv:UnspecifiedMatching -DOID:0080694 Galloway-Mowat syndrome oboInOwl:hasDbXref UMLS_CUI:C0795949 semapv:UnspecifiedMatching -DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref GARD:10041 semapv:UnspecifiedMatching -DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref MESH:C537411 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref ORDO:1200 semapv:UnspecifiedMatching +DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref GARD:10041 semapv:UnspecifiedMatching +DOID:0080695 Burn-McKeown syndrome oboInOwl:hasDbXref MESH:C537411 semapv:UnspecifiedMatching +DOID:0080696 Winchester syndrome oboInOwl:hasDbXref GARD:7894 semapv:UnspecifiedMatching DOID:0080696 Winchester syndrome oboInOwl:hasDbXref MESH:C536709 semapv:UnspecifiedMatching DOID:0080696 Winchester syndrome oboInOwl:hasDbXref OMIM:277950 semapv:UnspecifiedMatching -DOID:0080696 Winchester syndrome oboInOwl:hasDbXref GARD:7894 semapv:UnspecifiedMatching DOID:0080697 Opitz GBBB syndrome oboInOwl:hasDbXref GARD:193 semapv:UnspecifiedMatching DOID:0080697 Opitz GBBB syndrome oboInOwl:hasDbXref KEGG:H00583 semapv:UnspecifiedMatching DOID:0080697 Opitz GBBB syndrome oboInOwl:hasDbXref OMIM:300000 semapv:UnspecifiedMatching @@ -5457,8 +5470,8 @@ DOID:0080702 medulloblastoma WNT activated oboInOwl:hasDbXref NCI:C129440 semapv DOID:0080703 medulloblastoma SHH activated oboInOwl:hasDbXref NCI:C129441 semapv:UnspecifiedMatching DOID:0080704 medulloblastoma SHH activated and TP53 mutant oboInOwl:hasDbXref NCI:C129442 semapv:UnspecifiedMatching DOID:0080704 medulloblastoma SHH activated and TP53 mutant oboInOwl:hasDbXref ICDO:9476/3 semapv:UnspecifiedMatching -DOID:0080705 medulloblastoma SHH activated and TP53 wild-type oboInOwl:hasDbXref NCI:C129443 semapv:UnspecifiedMatching DOID:0080705 medulloblastoma SHH activated and TP53 wild-type oboInOwl:hasDbXref ICDO:9471/3 semapv:UnspecifiedMatching +DOID:0080705 medulloblastoma SHH activated and TP53 wild-type oboInOwl:hasDbXref NCI:C129443 semapv:UnspecifiedMatching DOID:0080706 medulloblastoma non-WNT/non-SHH oboInOwl:hasDbXref ICDO:9477/3 semapv:UnspecifiedMatching DOID:0080706 medulloblastoma non-WNT/non-SHH oboInOwl:hasDbXref NCI:C129444 semapv:UnspecifiedMatching DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 oboInOwl:hasDbXref NCI:C129445 semapv:UnspecifiedMatching @@ -5472,18 +5485,18 @@ DOID:0080717 infantile liver failure syndrome 1 oboInOwl:hasDbXref OMIM:615438 s DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS_CUI:C1833373 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref ORDO:602 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy skos:exactMatch MESH:C536816 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy oboInOwl:hasDbXref OMIM:617158 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref UMLS_CUI:C1853926 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy oboInOwl:hasDbXref NCI:C176900 semapv:UnspecifiedMatching +DOID:0080718 GNE myopathy oboInOwl:hasDbXref OMIM:617158 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref MESH:C538329 semapv:UnspecifiedMatching -DOID:0080718 GNE myopathy oboInOwl:hasDbXref MESH:C536816 semapv:UnspecifiedMatching +DOID:0080718 GNE myopathy oboInOwl:hasDbXref NCI:C176900 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref OMIM:605820 semapv:UnspecifiedMatching +DOID:0080718 GNE myopathy oboInOwl:hasDbXref MESH:C536816 semapv:UnspecifiedMatching DOID:0080718 GNE myopathy oboInOwl:hasDbXref GARD:9493 semapv:UnspecifiedMatching DOID:0080719 proximal myopathy and ophthalmoplegia oboInOwl:hasDbXref GARD:9494 semapv:UnspecifiedMatching DOID:0080719 proximal myopathy and ophthalmoplegia oboInOwl:hasDbXref OMIM:605637 semapv:UnspecifiedMatching DOID:0080719 proximal myopathy and ophthalmoplegia oboInOwl:hasDbXref ORDO:79091 semapv:UnspecifiedMatching -DOID:0080720 autosomal dominant congenital deafness with onychodystrophy oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching DOID:0080720 autosomal dominant congenital deafness with onychodystrophy oboInOwl:hasDbXref GARD:4732 semapv:UnspecifiedMatching +DOID:0080720 autosomal dominant congenital deafness with onychodystrophy oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching DOID:0080721 calvarial doughnut lesions with bone fragility oboInOwl:hasDbXref OMIM:126550 semapv:UnspecifiedMatching DOID:0080721 calvarial doughnut lesions with bone fragility oboInOwl:hasDbXref ORDO:85192 semapv:UnspecifiedMatching DOID:0080722 Kenny-Caffey syndrome type 1 oboInOwl:hasDbXref GARD:8367 semapv:UnspecifiedMatching @@ -5491,8 +5504,8 @@ DOID:0080722 Kenny-Caffey syndrome type 1 oboInOwl:hasDbXref OMIM:244460 semapv: DOID:0080722 Kenny-Caffey syndrome type 1 oboInOwl:hasDbXref ORDO:93324 semapv:UnspecifiedMatching DOID:0080723 Kenny-Caffey syndrome type 2 skos:exactMatch MESH:C537020 semapv:UnspecifiedMatching DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref ORDO:93325 semapv:UnspecifiedMatching -DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref GARD:83 semapv:UnspecifiedMatching +DOID:0080723 Kenny-Caffey syndrome type 2 oboInOwl:hasDbXref OMIM:127000 semapv:UnspecifiedMatching DOID:0080724 Kenny-Caffey syndrome oboInOwl:hasDbXref OMIMPS:127000 semapv:UnspecifiedMatching DOID:0080724 Kenny-Caffey syndrome oboInOwl:hasDbXref ORDO:2333 semapv:UnspecifiedMatching DOID:0080725 BASAN syndrome oboInOwl:hasDbXref GARD:2336 semapv:UnspecifiedMatching @@ -5517,10 +5530,10 @@ DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 oboInOwl:hasDbXref DOID:0080740 Libman-Sacks endocarditis oboInOwl:hasDbXref ICD10CM:M32.11 semapv:UnspecifiedMatching DOID:0080741 limbic encephalitis oboInOwl:hasDbXref GARD:8742 semapv:UnspecifiedMatching DOID:0080741 limbic encephalitis oboInOwl:hasDbXref MESH:D020363 semapv:UnspecifiedMatching +DOID:0080744 antisynthetase syndrome skos:exactMatch MESH:C537778 semapv:UnspecifiedMatching +DOID:0080744 antisynthetase syndrome oboInOwl:hasDbXref ORDO:81 semapv:UnspecifiedMatching DOID:0080744 antisynthetase syndrome oboInOwl:hasDbXref GARD:735 semapv:UnspecifiedMatching DOID:0080744 antisynthetase syndrome oboInOwl:hasDbXref MESH:C537778 semapv:UnspecifiedMatching -DOID:0080744 antisynthetase syndrome oboInOwl:hasDbXref ORDO:81 semapv:UnspecifiedMatching -DOID:0080744 antisynthetase syndrome skos:exactMatch MESH:C537778 semapv:UnspecifiedMatching DOID:0080745 polymyositis oboInOwl:hasDbXref GARD:7425 semapv:UnspecifiedMatching DOID:0080745 polymyositis oboInOwl:hasDbXref MESH:D017285 semapv:UnspecifiedMatching DOID:0080746 Sweet syndrome oboInOwl:hasDbXref MESH:D016463 semapv:UnspecifiedMatching @@ -5531,9 +5544,9 @@ DOID:0080753 keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref ORDO: DOID:0080754 X-linked keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref GARD:6829 semapv:UnspecifiedMatching DOID:0080754 X-linked keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:308800 semapv:UnspecifiedMatching DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans oboInOwl:hasDbXref OMIM:612843 semapv:UnspecifiedMatching -DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 semapv:UnspecifiedMatching DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref ORDO:79100 semapv:UnspecifiedMatching DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref GARD:9744 semapv:UnspecifiedMatching +DOID:0080756 atrophoderma vermiculata oboInOwl:hasDbXref OMIM:209700 semapv:UnspecifiedMatching DOID:0080757 Fanconi renotubular syndrome 1 oboInOwl:hasDbXref OMIM:134600 semapv:UnspecifiedMatching DOID:0080758 Fanconi renotubular syndrome 2 oboInOwl:hasDbXref OMIM:613388 semapv:UnspecifiedMatching DOID:0080759 Fanconi renotubular syndrome 3 oboInOwl:hasDbXref OMIM:615605 semapv:UnspecifiedMatching @@ -5541,16 +5554,16 @@ DOID:0080760 Fanconi renotubular syndrome 4 oboInOwl:hasDbXref OMIM:616026 semap DOID:0080761 Fanconi renotubular syndrome 5 oboInOwl:hasDbXref OMIM:618913 semapv:UnspecifiedMatching DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z oboInOwl:hasDbXref OMIM:617232 semapv:UnspecifiedMatching DOID:0080763 diffuse gastric cancer oboInOwl:hasDbXref GARD:10334 semapv:UnspecifiedMatching -DOID:0080764 hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 semapv:UnspecifiedMatching DOID:0080764 hereditary diffuse gastric cancer oboInOwl:hasDbXref GARD:10900 semapv:UnspecifiedMatching +DOID:0080764 hereditary diffuse gastric cancer oboInOwl:hasDbXref OMIM:137215 semapv:UnspecifiedMatching DOID:0080765 autosomal recessive intellectual developmental disorder 72 oboInOwl:hasDbXref OMIM:618665 semapv:UnspecifiedMatching DOID:0080766 erythrokeratodermia variabilis et progressiva 6 oboInOwl:hasDbXref OMIM:618531 semapv:UnspecifiedMatching DOID:0080767 autoimmune myocarditis oboInOwl:hasDbXref GARD:9519 semapv:UnspecifiedMatching -DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref GARD:9298 semapv:UnspecifiedMatching -DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 semapv:UnspecifiedMatching -DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:266100 semapv:UnspecifiedMatching DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref ORDO:3006 semapv:UnspecifiedMatching +DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref OMIM:266100 semapv:UnspecifiedMatching DOID:0080768 pyridoxine-dependent epilepsy skos:exactMatch MESH:C536254 semapv:UnspecifiedMatching +DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref GARD:9298 semapv:UnspecifiedMatching +DOID:0080768 pyridoxine-dependent epilepsy oboInOwl:hasDbXref MESH:C536254 semapv:UnspecifiedMatching DOID:0080769 early-onset vitamin B6-dependent epilepsy oboInOwl:hasDbXref OMIM:617290 semapv:UnspecifiedMatching DOID:0080770 autosomal dominant beta thalassemia oboInOwl:hasDbXref OMIM:603902 semapv:UnspecifiedMatching DOID:0080771 beta-thalassemia major oboInOwl:hasDbXref NCI:C129699 semapv:UnspecifiedMatching @@ -5565,16 +5578,16 @@ DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref MESH:D0 DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref NCI:C120191 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:99429 semapv:UnspecifiedMatching DOID:0080775 complete androgen insensitivity syndrome oboInOwl:hasDbXref UMLS_CUI:C0936016 semapv:UnspecifiedMatching -DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref GARD:5692 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref ORDO:90797 semapv:UnspecifiedMatching +DOID:0080776 partial androgen insensitivity syndrome oboInOwl:hasDbXref GARD:5692 semapv:UnspecifiedMatching DOID:0080777 lung sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C45540 semapv:UnspecifiedMatching DOID:0080778 transient infantile liver failure oboInOwl:hasDbXref GARD:10593 semapv:UnspecifiedMatching DOID:0080778 transient infantile liver failure oboInOwl:hasDbXref OMIM:613070 semapv:UnspecifiedMatching DOID:0080778 transient infantile liver failure oboInOwl:hasDbXref ORDO:217371 semapv:UnspecifiedMatching -DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref NCI:C7224 semapv:UnspecifiedMatching -DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref MESH:D000069293 semapv:UnspecifiedMatching DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref ICDO:9735/3 semapv:UnspecifiedMatching +DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref MESH:D000069293 semapv:UnspecifiedMatching +DOID:0080779 plasmablastic lymphoma oboInOwl:hasDbXref NCI:C7224 semapv:UnspecifiedMatching DOID:0080780 acute erythroid leukemia oboInOwl:hasDbXref ICDO:9840/3 semapv:UnspecifiedMatching DOID:0080780 acute erythroid leukemia oboInOwl:hasDbXref NCI:C8923 semapv:UnspecifiedMatching DOID:0080781 benign exocrine pancreas neoplasm oboInOwl:hasDbXref NCI:C4613 semapv:UnspecifiedMatching @@ -5611,12 +5624,12 @@ DOID:0080808 mammary analogue secretory carcinoma oboInOwl:hasDbXref MESH:D00006 DOID:0080828 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 semapv:UnspecifiedMatching DOID:0080828 VEXAS syndrome oboInOwl:hasDbXref ORDO:596753 semapv:UnspecifiedMatching DOID:0080829 low grade glioma oboInOwl:hasDbXref NCI:C132067 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia oboInOwl:hasDbXref GARD:6865 semapv:UnspecifiedMatching +DOID:0080833 laryngomalacia skos:narrowMatch MESH:D055092 semapv:UnspecifiedMatching +DOID:0080833 laryngomalacia oboInOwl:hasDbXref UMLS_CUI:C0345160 semapv:UnspecifiedMatching +DOID:0080833 laryngomalacia oboInOwl:hasDbXref ORDO:2373 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref ICD10CM:Q31.5 semapv:UnspecifiedMatching +DOID:0080833 laryngomalacia oboInOwl:hasDbXref GARD:6865 semapv:UnspecifiedMatching DOID:0080833 laryngomalacia oboInOwl:hasDbXref OMIM:150280 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia oboInOwl:hasDbXref ORDO:2373 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia oboInOwl:hasDbXref UMLS_CUI:C0345160 semapv:UnspecifiedMatching -DOID:0080833 laryngomalacia skos:narrowMatch MESH:D055092 semapv:UnspecifiedMatching DOID:0080835 TORCH syndrome oboInOwl:hasDbXref GARD:7781 semapv:UnspecifiedMatching DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 oboInOwl:hasDbXref GARD:3924 semapv:UnspecifiedMatching DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 oboInOwl:hasDbXref OMIM:245590 semapv:UnspecifiedMatching @@ -5627,28 +5640,28 @@ DOID:0080840 optic atrophy 12 oboInOwl:hasDbXref OMIM:618977 semapv:UnspecifiedM DOID:0080842 intracranial meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref NCI:C4656 semapv:UnspecifiedMatching DOID:0080842 intracranial meningioma oboInOwl:hasDbXref UMLS_CUI:C0349604 semapv:UnspecifiedMatching -DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref NCI:C6971 semapv:UnspecifiedMatching DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref UMLS_CUI:C1334698 semapv:UnspecifiedMatching -DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref MESH:C537746 semapv:UnspecifiedMatching -DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching -DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref ORDO:93329 semapv:UnspecifiedMatching +DOID:0080843 supratentorial meningioma oboInOwl:hasDbXref NCI:C6971 semapv:UnspecifiedMatching DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C1850318 semapv:UnspecifiedMatching +DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref ORDO:93329 semapv:UnspecifiedMatching +DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching +DOID:0080844 omodysplasia 1 oboInOwl:hasDbXref MESH:C537746 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref MESH:C567664 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref OMIM:164745 semapv:UnspecifiedMatching DOID:0080845 omodysplasia 2 oboInOwl:hasDbXref UMLS_CUI:C2750355 semapv:UnspecifiedMatching -DOID:0080846 latent autoimmune diabetes in adults skos:exactMatch MESH:D000071698 semapv:UnspecifiedMatching DOID:0080846 latent autoimmune diabetes in adults oboInOwl:hasDbXref MESH:D000071698 semapv:UnspecifiedMatching -DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref GARD:16 semapv:UnspecifiedMatching -DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 semapv:UnspecifiedMatching +DOID:0080846 latent autoimmune diabetes in adults skos:exactMatch MESH:D000071698 semapv:UnspecifiedMatching DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref ORDO:1404 semapv:UnspecifiedMatching +DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref OMIM:257550 semapv:UnspecifiedMatching +DOID:0080849 ocular motor apraxia, Cogan type oboInOwl:hasDbXref GARD:16 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref GARD:7354 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref ICD10CM:L10.2 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref ORDO:79481 semapv:UnspecifiedMatching DOID:0080850 pemphigus foliaceus oboInOwl:hasDbXref UMLS_CUI:C0263313 semapv:UnspecifiedMatching DOID:0080851 IgA pemphigus oboInOwl:hasDbXref UMLS_CUI:C1274167 semapv:UnspecifiedMatching -DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref ICD10CM:L10.81 semapv:UnspecifiedMatching DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref UMLS_CUI:C1112570 semapv:UnspecifiedMatching +DOID:0080852 paraneoplastic pemphigus oboInOwl:hasDbXref ICD10CM:L10.81 semapv:UnspecifiedMatching DOID:0080854 anaplastic pleomorphic xanthoastrocytoma oboInOwl:hasDbXref NCI:C129327 semapv:UnspecifiedMatching DOID:0080857 primary ovarian insufficiency 1 oboInOwl:hasDbXref GARD:4480 semapv:UnspecifiedMatching DOID:0080857 primary ovarian insufficiency 1 oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching @@ -5670,8 +5683,8 @@ DOID:0080872 primary ovarian insufficiency 15 oboInOwl:hasDbXref OMIM:618096 sem DOID:0080873 primary ovarian insufficiency 16 oboInOwl:hasDbXref OMIM:618723 semapv:UnspecifiedMatching DOID:0080874 primary ovarian insufficiency 17 oboInOwl:hasDbXref OMIM:619146 semapv:UnspecifiedMatching DOID:0080875 IDH-mutant anaplastic astrocytoma oboInOwl:hasDbXref NCI:C185167 semapv:UnspecifiedMatching -DOID:0080876 IDH-wildtype anaplastic astrocytoma oboInOwl:hasDbXref NCI:C129291 semapv:UnspecifiedMatching DOID:0080876 IDH-wildtype anaplastic astrocytoma oboInOwl:hasDbXref ICDO:9401/3 semapv:UnspecifiedMatching +DOID:0080876 IDH-wildtype anaplastic astrocytoma oboInOwl:hasDbXref NCI:C129291 semapv:UnspecifiedMatching DOID:0080877 astrocytoma, IDH-mutant, grade 4 oboInOwl:hasDbXref ICDO:9445/3 semapv:UnspecifiedMatching DOID:0080877 astrocytoma, IDH-mutant, grade 4 oboInOwl:hasDbXref NCI:C167335 semapv:UnspecifiedMatching DOID:0080878 IDH-wildtype glioblastoma oboInOwl:hasDbXref ICDO:9440/3 semapv:UnspecifiedMatching @@ -5679,13 +5692,13 @@ DOID:0080878 IDH-wildtype glioblastoma oboInOwl:hasDbXref NCI:C39750 semapv:Unsp DOID:0080880 diffuse glioma, H3 G34 mutant oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching DOID:0080880 diffuse glioma, H3 G34 mutant oboInOwl:hasDbXref NCI:C185371 semapv:UnspecifiedMatching DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma oboInOwl:hasDbXref NCI:C129321 semapv:UnspecifiedMatching +DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref UMLS_CUI:C0221468 semapv:UnspecifiedMatching DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref ICD10CM:E55.0 semapv:UnspecifiedMatching DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref ICD9CM:268.0 semapv:UnspecifiedMatching -DOID:0080883 vitamin D-dependent rickets oboInOwl:hasDbXref UMLS_CUI:C0221468 semapv:UnspecifiedMatching DOID:0080884 vitamin D-dependent rickets type 2A oboInOwl:hasDbXref OMIM:277440 semapv:UnspecifiedMatching DOID:0080884 vitamin D-dependent rickets type 2A oboInOwl:hasDbXref ORDO:93160 semapv:UnspecifiedMatching -DOID:0080885 vitamin D-dependent rickets type 2B oboInOwl:hasDbXref ORDO:93160 semapv:UnspecifiedMatching DOID:0080885 vitamin D-dependent rickets type 2B oboInOwl:hasDbXref OMIM:600785 semapv:UnspecifiedMatching +DOID:0080885 vitamin D-dependent rickets type 2B oboInOwl:hasDbXref ORDO:93160 semapv:UnspecifiedMatching DOID:0080886 vitamin D-dependent rickets type 1A oboInOwl:hasDbXref OMIM:264700 semapv:UnspecifiedMatching DOID:0080886 vitamin D-dependent rickets type 1A oboInOwl:hasDbXref ORDO:289157 semapv:UnspecifiedMatching DOID:0080887 vitamin D-dependent rickets type 1B oboInOwl:hasDbXref OMIM:600081 semapv:UnspecifiedMatching @@ -5694,14 +5707,14 @@ DOID:0080888 spinal ependymoma, MYCN-amplified oboInOwl:hasDbXref ICDO:9396/3 se DOID:0080888 spinal ependymoma, MYCN-amplified oboInOwl:hasDbXref NCI:C186494 semapv:UnspecifiedMatching DOID:0080889 posterior fossa ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:UnspecifiedMatching DOID:0080890 supratentorial ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:UnspecifiedMatching -DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching -DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref NCI:C129351 semapv:UnspecifiedMatching DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref ORDO:530792 semapv:UnspecifiedMatching -DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching +DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref NCI:C129351 semapv:UnspecifiedMatching +DOID:0080892 RELA fusion-positive ependymoma oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref GARD:13259 semapv:UnspecifiedMatching +DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching DOID:0080893 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ORDO:352577 semapv:UnspecifiedMatching -DOID:0080895 rapidly involuting congenital hemangioma oboInOwl:hasDbXref ORDO:141184 semapv:UnspecifiedMatching DOID:0080895 rapidly involuting congenital hemangioma oboInOwl:hasDbXref NCI:C172207 semapv:UnspecifiedMatching +DOID:0080895 rapidly involuting congenital hemangioma oboInOwl:hasDbXref ORDO:141184 semapv:UnspecifiedMatching DOID:0080897 solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref ICDO:8815/1 semapv:UnspecifiedMatching DOID:0080897 solitary fibrous tumor/hemangiopericytoma oboInOwl:hasDbXref ORDO:2126 semapv:UnspecifiedMatching DOID:0080898 cerebellofaciodental syndrome oboInOwl:hasDbXref OMIM:616202 semapv:UnspecifiedMatching @@ -5713,12 +5726,12 @@ DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl: DOID:0080904 astroblastoma, MN1-altered oboInOwl:hasDbXref ICDO:9430/3 semapv:UnspecifiedMatching DOID:0080905 central nervous system neuroblastoma oboInOwl:hasDbXref NCI:C4826 semapv:UnspecifiedMatching DOID:0080906 CNS neuroblastoma with FOXR2 activation oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching -DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref GARD:1415 semapv:UnspecifiedMatching +DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref OMIM:216400 semapv:UnspecifiedMatching DOID:0080907 Cockayne syndrome A oboInOwl:hasDbXref ORDO:90321 semapv:UnspecifiedMatching -DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref ORDO:90322 semapv:UnspecifiedMatching DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref GARD:1420 semapv:UnspecifiedMatching DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref OMIM:133540 semapv:UnspecifiedMatching +DOID:0080908 Cockayne syndrome B oboInOwl:hasDbXref ORDO:90322 semapv:UnspecifiedMatching DOID:0080909 castration-resistant prostate carcinoma oboInOwl:hasDbXref MESH:D064129 semapv:UnspecifiedMatching DOID:0080909 castration-resistant prostate carcinoma oboInOwl:hasDbXref NCI:C130234 semapv:UnspecifiedMatching DOID:0080909 castration-resistant prostate carcinoma skos:broadMatch MESH:D064129 semapv:UnspecifiedMatching @@ -5727,14 +5740,14 @@ DOID:0080910 cerebrooculofacioskeletal syndrome oboInOwl:hasDbXref OMIMPS:214150 DOID:0080911 cerebrooculofacioskeletal syndrome 1 oboInOwl:hasDbXref OMIM:214150 semapv:UnspecifiedMatching DOID:0080912 cerebrooculofacioskeletal syndrome 2 oboInOwl:hasDbXref MESH:C565185 semapv:UnspecifiedMatching DOID:0080912 cerebrooculofacioskeletal syndrome 2 oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching -DOID:0080913 cerebrooculofacioskeletal syndrome 3 oboInOwl:hasDbXref MESH:C565035 semapv:UnspecifiedMatching DOID:0080913 cerebrooculofacioskeletal syndrome 3 oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching -DOID:0080914 cerebrooculofacioskeletal syndrome 4 oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching +DOID:0080913 cerebrooculofacioskeletal syndrome 3 oboInOwl:hasDbXref MESH:C565035 semapv:UnspecifiedMatching DOID:0080914 cerebrooculofacioskeletal syndrome 4 oboInOwl:hasDbXref MESH:C565184 semapv:UnspecifiedMatching -DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref NCI:C27349 semapv:UnspecifiedMatching -DOID:0080915 histiocytic sarcoma skos:exactMatch MESH:D054747 semapv:UnspecifiedMatching +DOID:0080914 cerebrooculofacioskeletal syndrome 4 oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref ICDO:9755/3 semapv:UnspecifiedMatching DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref MESH:D054747 semapv:UnspecifiedMatching +DOID:0080915 histiocytic sarcoma oboInOwl:hasDbXref NCI:C27349 semapv:UnspecifiedMatching +DOID:0080915 histiocytic sarcoma skos:exactMatch MESH:D054747 semapv:UnspecifiedMatching DOID:0080916 erythroleukemia oboInOwl:hasDbXref NCI:C7152 semapv:UnspecifiedMatching DOID:0080917 sporatic amyotrophic lateral sclerosis oboInOwl:hasDbXref EFO:0001357 semapv:UnspecifiedMatching DOID:0080918 polymicrogyria oboInOwl:hasDbXref MESH:D065706 semapv:UnspecifiedMatching @@ -5742,15 +5755,15 @@ DOID:0080918 polymicrogyria oboInOwl:hasDbXref NCI:C116936 semapv:UnspecifiedMat DOID:0080919 unilateral focal polymicrogyria oboInOwl:hasDbXref ORDO:268947 semapv:UnspecifiedMatching DOID:0080921 bilateral frontal polymicrogyria oboInOwl:hasDbXref GARD:10783 semapv:UnspecifiedMatching DOID:0080921 bilateral frontal polymicrogyria oboInOwl:hasDbXref ORDO:208444 semapv:UnspecifiedMatching -DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref GARD:10784 semapv:UnspecifiedMatching DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref NCI:C148367 semapv:UnspecifiedMatching DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref OMIM:606854 semapv:UnspecifiedMatching +DOID:0080922 bilateral frontoparietal polymicrogyria oboInOwl:hasDbXref GARD:10784 semapv:UnspecifiedMatching DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref GARD:10785 semapv:UnspecifiedMatching DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref OMIM:612691 semapv:UnspecifiedMatching DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria oboInOwl:hasDbXref ORDO:208441 semapv:UnspecifiedMatching -DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ORDO:98889 semapv:UnspecifiedMatching DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref GARD:6011 semapv:UnspecifiedMatching DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref OMIM:615752 semapv:UnspecifiedMatching +DOID:0080924 bilateral perisylvian polymicrogyria oboInOwl:hasDbXref ORDO:98889 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref GARD:12664 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref NCI:131302 semapv:UnspecifiedMatching DOID:0080925 cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching @@ -5764,18 +5777,18 @@ DOID:0080929 variant ABeta2M amyloidosis oboInOwl:hasDbXref ORDO:314652 semapv:U DOID:0080930 primary localized cutaneous amyloidosis 1 oboInOwl:hasDbXref OMIM:105250 semapv:UnspecifiedMatching DOID:0080931 primary localized cutaneous amyloidosis 2 oboInOwl:hasDbXref OMIM:613955 semapv:UnspecifiedMatching DOID:0080932 primary localized cutaneous amyloidosis 3 oboInOwl:hasDbXref OMIM:617920 semapv:UnspecifiedMatching -DOID:0080933 immunoglobulin light chain amyloidosis oboInOwl:hasDbXref MESH:D000075363 semapv:UnspecifiedMatching DOID:0080933 immunoglobulin light chain amyloidosis oboInOwl:hasDbXref ICD10CM:E85.81 semapv:UnspecifiedMatching +DOID:0080933 immunoglobulin light chain amyloidosis oboInOwl:hasDbXref MESH:D000075363 semapv:UnspecifiedMatching DOID:0080934 immunoglobulin heavy chain amyloidosis oboInOwl:hasDbXref ORDO:442582 semapv:UnspecifiedMatching DOID:0080936 serum amyloid A amyloidosis oboInOwl:hasDbXref ICD10CM:E85.3 semapv:UnspecifiedMatching DOID:0080939 hereditary angioedema type I oboInOwl:hasDbXref OMIM:106100 semapv:UnspecifiedMatching DOID:0080940 hereditary angioedema type III oboInOwl:hasDbXref MESH:D056828 semapv:UnspecifiedMatching DOID:0080940 hereditary angioedema type III oboInOwl:hasDbXref OMIM:610618 semapv:UnspecifiedMatching DOID:0080941 acquired angioedema oboInOwl:hasDbXref MESH:C538173 semapv:UnspecifiedMatching -DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref GARD:9657 semapv:UnspecifiedMatching -DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref MESH:C538256 semapv:UnspecifiedMatching DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref OMIMPS:607095 semapv:UnspecifiedMatching DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref ORDO:93347 semapv:UnspecifiedMatching +DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref GARD:9657 semapv:UnspecifiedMatching +DOID:0080942 anauxetic dysplasia oboInOwl:hasDbXref MESH:C538256 semapv:UnspecifiedMatching DOID:0080943 46,XX sex reversal 5 oboInOwl:hasDbXref OMIM:618901 semapv:UnspecifiedMatching DOID:0080944 familial Behcet-like autoinflammatory syndrome oboInOwl:hasDbXref OMIM:616744 semapv:UnspecifiedMatching DOID:0080945 abdominal obesity-metabolic syndrome 4 oboInOwl:hasDbXref OMIM:618620 semapv:UnspecifiedMatching @@ -5789,12 +5802,12 @@ DOID:0080953 amelogenesis imperfecta type 1J oboInOwl:hasDbXref OMIM:617297 sema DOID:0080954 arthrogryposis multiplex congenita oboInOwl:hasDbXref GARD:777 semapv:UnspecifiedMatching DOID:0080954 arthrogryposis multiplex congenita oboInOwl:hasDbXref OMIMPS:617468 semapv:UnspecifiedMatching DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C6772 semapv:UnspecifiedMatching -DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref GARD:2872 semapv:UnspecifiedMatching DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref OMIM:604091 semapv:UnspecifiedMatching DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref ORDO:425 semapv:UnspecifiedMatching -DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref GARD:758 semapv:UnspecifiedMatching -DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref OMIM:618463 semapv:UnspecifiedMatching +DOID:0080957 primary hypoalphalipoproteinemia 1 oboInOwl:hasDbXref GARD:2872 semapv:UnspecifiedMatching DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref ORDO:425 semapv:UnspecifiedMatching +DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref OMIM:618463 semapv:UnspecifiedMatching +DOID:0080958 primary hypoalphalipoproteinemia 2 oboInOwl:hasDbXref GARD:758 semapv:UnspecifiedMatching DOID:0080959 arrhythmogenic right ventricular dysplasia 14 oboInOwl:hasDbXref OMIM:618920 semapv:UnspecifiedMatching DOID:0080960 amelogenesis imperfecta type 2A6 oboInOwl:hasDbXref OMIM:617217 semapv:UnspecifiedMatching DOID:0080962 anauxetic dysplasia 2 oboInOwl:hasDbXref OMIM:617396 semapv:UnspecifiedMatching @@ -5824,15 +5837,15 @@ DOID:0080984 X-linked intellectual developmental disorder 109 oboInOwl:hasDbXref DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type oboInOwl:hasDbXref GARD:3307 semapv:UnspecifiedMatching DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type oboInOwl:hasDbXref OMIM:309520 semapv:UnspecifiedMatching DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type oboInOwl:hasDbXref ORDO:776 semapv:UnspecifiedMatching -DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref GARD:12474 semapv:UnspecifiedMatching -DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref OMIM:130080 semapv:UnspecifiedMatching DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref ORDO:75392 semapv:UnspecifiedMatching +DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref OMIM:130080 semapv:UnspecifiedMatching +DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 oboInOwl:hasDbXref GARD:12474 semapv:UnspecifiedMatching DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 oboInOwl:hasDbXref GARD:12474 semapv:UnspecifiedMatching DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 oboInOwl:hasDbXref OMIM:617174 semapv:UnspecifiedMatching DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 oboInOwl:hasDbXref ORDO:75392 semapv:UnspecifiedMatching -DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref ORDO:79410 semapv:UnspecifiedMatching -DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131850 semapv:UnspecifiedMatching DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref GARD:2155 semapv:UnspecifiedMatching +DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131850 semapv:UnspecifiedMatching +DOID:0080988 pretibial dystrophic epidermolysis bullosa oboInOwl:hasDbXref ORDO:79410 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref GARD:8433 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref MESH:C536883 semapv:UnspecifiedMatching DOID:0080990 King Denborough syndrome oboInOwl:hasDbXref OMIM:145600 semapv:UnspecifiedMatching @@ -5862,9 +5875,9 @@ DOID:0081016 congenital fibrosis of the extraocular muscles 2 oboInOwl:hasDbXref DOID:0081017 congenital fibrosis of the extraocular muscles 3A oboInOwl:hasDbXref OMIM:600638 semapv:UnspecifiedMatching DOID:0081019 congenital fibrosis of the extraocular muscles 3C oboInOwl:hasDbXref OMIM:609384 semapv:UnspecifiedMatching DOID:0081020 congenital fibrosis of the extraocular muscles 5 oboInOwl:hasDbXref OMIM:616219 semapv:UnspecifiedMatching -DOID:0081021 Tukel syndrome oboInOwl:hasDbXref OMIM:609428 semapv:UnspecifiedMatching -DOID:0081021 Tukel syndrome oboInOwl:hasDbXref MESH:C536925 semapv:UnspecifiedMatching DOID:0081021 Tukel syndrome oboInOwl:hasDbXref GARD:9814 semapv:UnspecifiedMatching +DOID:0081021 Tukel syndrome oboInOwl:hasDbXref MESH:C536925 semapv:UnspecifiedMatching +DOID:0081021 Tukel syndrome oboInOwl:hasDbXref OMIM:609428 semapv:UnspecifiedMatching DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref GARD:10649 semapv:UnspecifiedMatching DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref MESH:C563678 semapv:UnspecifiedMatching DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref OMIM:610356 semapv:UnspecifiedMatching @@ -5872,9 +5885,9 @@ DOID:0081022 retinal cone dystrophy 3B oboInOwl:hasDbXref ORDO:209932 semapv:Uns DOID:0081023 retinal cone dystrophy 4 oboInOwl:hasDbXref GARD:10650 semapv:UnspecifiedMatching DOID:0081023 retinal cone dystrophy 4 oboInOwl:hasDbXref MESH:C566470 semapv:UnspecifiedMatching DOID:0081023 retinal cone dystrophy 4 oboInOwl:hasDbXref OMIM:610478 semapv:UnspecifiedMatching -DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref GARD:3196 semapv:UnspecifiedMatching -DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref MESH:C566719 semapv:UnspecifiedMatching DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref OMIM:180020 semapv:UnspecifiedMatching +DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref MESH:C566719 semapv:UnspecifiedMatching +DOID:0081024 retinal cone dystrophy 1 oboInOwl:hasDbXref GARD:3196 semapv:UnspecifiedMatching DOID:0081025 retinal cone dystrophy 3A oboInOwl:hasDbXref GARD:10648 semapv:UnspecifiedMatching DOID:0081025 retinal cone dystrophy 3A oboInOwl:hasDbXref MESH:C566483 semapv:UnspecifiedMatching DOID:0081025 retinal cone dystrophy 3A oboInOwl:hasDbXref OMIM:610024 semapv:UnspecifiedMatching @@ -5889,13 +5902,13 @@ DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 oboInOwl:hasDbXref ICD DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 oboInOwl:hasDbXref NCI:C82192 semapv:UnspecifiedMatching DOID:0081037 mixed phenotype acute leukemia with MLL rearranged oboInOwl:hasDbXref ICDO:9807/3 semapv:UnspecifiedMatching DOID:0081037 mixed phenotype acute leukemia with MLL rearranged oboInOwl:hasDbXref NCI:C82203 semapv:UnspecifiedMatching -DOID:0081038 mixed phenotype acute leukemia, B/myeloid oboInOwl:hasDbXref ICDO:9808/3 semapv:UnspecifiedMatching DOID:0081038 mixed phenotype acute leukemia, B/myeloid oboInOwl:hasDbXref NCI:C82212 semapv:UnspecifiedMatching +DOID:0081038 mixed phenotype acute leukemia, B/myeloid oboInOwl:hasDbXref ICDO:9808/3 semapv:UnspecifiedMatching DOID:0081039 mixed phenotype acute leukemia, T/myeloid oboInOwl:hasDbXref ICDO:9809/3 semapv:UnspecifiedMatching -DOID:0081041 B-cell prolymphocytic leukemia oboInOwl:hasDbXref NCI:C4753 semapv:UnspecifiedMatching -DOID:0081041 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ORDO:86852 semapv:UnspecifiedMatching DOID:0081041 B-cell prolymphocytic leukemia oboInOwl:hasDbXref GARD:8223 semapv:UnspecifiedMatching DOID:0081041 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9833/3 semapv:UnspecifiedMatching +DOID:0081041 B-cell prolymphocytic leukemia oboInOwl:hasDbXref NCI:C4753 semapv:UnspecifiedMatching +DOID:0081041 B-cell prolymphocytic leukemia oboInOwl:hasDbXref ORDO:86852 semapv:UnspecifiedMatching DOID:0081042 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9834/3 semapv:UnspecifiedMatching DOID:0081042 T-cell prolymphocytic leukemia oboInOwl:hasDbXref NCI:C4752 semapv:UnspecifiedMatching DOID:0081042 T-cell prolymphocytic leukemia oboInOwl:hasDbXref ORDO:86871 semapv:UnspecifiedMatching @@ -5909,90 +5922,90 @@ DOID:0081046 frontonasal dysplasia 2 oboInOwl:hasDbXref OMIM:613451 semapv:Unspe DOID:0081047 frontonasal dysplasia 3 oboInOwl:hasDbXref OMIM:613456 semapv:UnspecifiedMatching DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome oboInOwl:hasDbXref ORDO:562528 semapv:UnspecifiedMatching -DOID:0081049 hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ORDO:86882 semapv:UnspecifiedMatching DOID:0081049 hepatosplenic T-cell lymphoma oboInOwl:hasDbXref NCI:C8459 semapv:UnspecifiedMatching +DOID:0081049 hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ORDO:86882 semapv:UnspecifiedMatching DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma oboInOwl:hasDbXref NCI:C45340 semapv:UnspecifiedMatching DOID:0081051 microcephaly, growth deficiency, seizures, and brain malformations oboInOwl:hasDbXref OMIM:618346 semapv:UnspecifiedMatching DOID:0081055 central diabetes insipidus oboInOwl:hasDbXref GARD:6015 semapv:UnspecifiedMatching DOID:0081055 central diabetes insipidus oboInOwl:hasDbXref ORDO:178029 semapv:UnspecifiedMatching DOID:0081057 gestational diabetes insipidus oboInOwl:hasDbXref MESH:C548014 semapv:UnspecifiedMatching DOID:0081058 dipsogenic diabetes insipidus oboInOwl:hasDbXref MESH:C548013 semapv:UnspecifiedMatching -DOID:0081059 X-linked central diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching DOID:0081059 X-linked central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching +DOID:0081059 X-linked central diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching DOID:0081060 X-linked nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 semapv:UnspecifiedMatching DOID:0081061 nephrogenic diabetes insipidus type 2 oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching -DOID:0081063 DICER1 syndrome oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching DOID:0081063 DICER1 syndrome oboInOwl:hasDbXref ORDO:284343 semapv:UnspecifiedMatching +DOID:0081063 DICER1 syndrome oboInOwl:hasDbXref OMIM:601200 semapv:UnspecifiedMatching DOID:0081064 BN2 diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148395 semapv:UnspecifiedMatching DOID:0081065 EZB diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148398 semapv:UnspecifiedMatching DOID:0081066 MCD diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148394 semapv:UnspecifiedMatching DOID:0081067 N1 diffuse large B-cell lymphoma oboInOwl:hasDbXref NCI:C148396 semapv:UnspecifiedMatching -DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref ORDO:1394 semapv:UnspecifiedMatching DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref GARD:1210 semapv:UnspecifiedMatching DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref OMIMPS:213980 semapv:UnspecifiedMatching +DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome oboInOwl:hasDbXref ORDO:1394 semapv:UnspecifiedMatching DOID:0081073 Teebi hypertelorism syndrome oboInOwl:hasDbXref GARD:957 semapv:UnspecifiedMatching DOID:0081073 Teebi hypertelorism syndrome oboInOwl:hasDbXref OMIMPS:145420 semapv:UnspecifiedMatching DOID:0081073 Teebi hypertelorism syndrome oboInOwl:hasDbXref ORDO:2745 semapv:UnspecifiedMatching DOID:0081074 Teebi hypertelorism syndrome 2 oboInOwl:hasDbXref OMIM:619736 semapv:UnspecifiedMatching DOID:0081075 Marsili syndrome oboInOwl:hasDbXref OMIM:147430 semapv:UnspecifiedMatching DOID:0081076 blastic plasmacytoid dendritic cell neoplasm oboInOwl:hasDbXref NCI:C7203 semapv:UnspecifiedMatching -DOID:0081077 ectodermal dysplasia and immune deficiency oboInOwl:hasDbXref GARD:9936 semapv:UnspecifiedMatching DOID:0081077 ectodermal dysplasia and immune deficiency oboInOwl:hasDbXref OMIMPS:300291 semapv:UnspecifiedMatching +DOID:0081077 ectodermal dysplasia and immune deficiency oboInOwl:hasDbXref GARD:9936 semapv:UnspecifiedMatching DOID:0081078 ectodermal dysplasia and immunodeficiency 1 oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching DOID:0081078 ectodermal dysplasia and immunodeficiency 1 oboInOwl:hasDbXref ORDO:69088 semapv:UnspecifiedMatching DOID:0081079 ectodermal dysplasia and immunodeficiency 2 oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref ICDO:9865/3 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref NCI:C82423 semapv:UnspecifiedMatching DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) oboInOwl:hasDbXref UMLS_CUI:C2826169 semapv:UnspecifiedMatching -DOID:0081081 acute promyelocytic leukemia with PML-RARA oboInOwl:hasDbXref NCI:C3182 semapv:UnspecifiedMatching DOID:0081081 acute promyelocytic leukemia with PML-RARA oboInOwl:hasDbXref ICDO:9866/3 semapv:UnspecifiedMatching +DOID:0081081 acute promyelocytic leukemia with PML-RARA oboInOwl:hasDbXref NCI:C3182 semapv:UnspecifiedMatching +DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023479 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref ICD10CM:C92.5 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref ICDO:9867/3 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref MESH:D015479 semapv:UnspecifiedMatching DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref NCI:C7463 semapv:UnspecifiedMatching -DOID:0081082 acute myelomonocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023479 semapv:UnspecifiedMatching +DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref NCI:C82426 semapv:UnspecifiedMatching DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref UMLS_CUI:C2826172 semapv:UnspecifiedMatching DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref ICDO:9869/3 semapv:UnspecifiedMatching -DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) oboInOwl:hasDbXref NCI:C82426 semapv:UnspecifiedMatching DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) oboInOwl:hasDbXref ICDO:9871/3 semapv:UnspecifiedMatching DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) oboInOwl:hasDbXref UMLS_CUI:C0522630 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref ICDO:9872/3 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref NCI:C8460 semapv:UnspecifiedMatching DOID:0081085 acute myeloid leukemia with minimal differentiation oboInOwl:hasDbXref UMLS_CUI:C0522631 semapv:UnspecifiedMatching -DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ORDO:98833 semapv:UnspecifiedMatching -DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref UMLS_CUI:C0026998 semapv:UnspecifiedMatching -DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref NCI:C3249 semapv:UnspecifiedMatching +DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref GARD:526 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ICDO:9873/3 semapv:UnspecifiedMatching -DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching -DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching +DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref NCI:C3249 semapv:UnspecifiedMatching +DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref ORDO:98833 semapv:UnspecifiedMatching +DOID:0081086 acute myeloid leukemia without maturation oboInOwl:hasDbXref UMLS_CUI:C0026998 semapv:UnspecifiedMatching DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref ICDO:9874/3 semapv:UnspecifiedMatching -DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching -DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref NCI:C3250 semapv:UnspecifiedMatching DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref UMLS_CUI:C1879321 semapv:UnspecifiedMatching +DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref NCI:C3250 semapv:UnspecifiedMatching +DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching +DOID:0081087 acute myeloid leukemia with maturation oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref ICD9CM:205.1 semapv:UnspecifiedMatching DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref ICDO:9875/3 semapv:UnspecifiedMatching DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive oboInOwl:hasDbXref UMLS_CUI:C0023473 semapv:UnspecifiedMatching +DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref ICDO:9877/3 semapv:UnspecifiedMatching DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref NCI:C82431 semapv:UnspecifiedMatching DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref UMLS_CUI:C2826177 semapv:UnspecifiedMatching -DOID:0081089 acute myeloid leukemia with mutated NPM1 oboInOwl:hasDbXref ICDO:9877/3 semapv:UnspecifiedMatching DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA oboInOwl:hasDbXref ICDO:9878/3 semapv:UnspecifiedMatching DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA oboInOwl:hasDbXref NCI:C129782 semapv:UnspecifiedMatching DOID:0081091 acute myeloid leukemia with mutated RUNX1 oboInOwl:hasDbXref ICDO:9879/3 semapv:UnspecifiedMatching DOID:0081091 acute myeloid leukemia with mutated RUNX1 oboInOwl:hasDbXref NCI:C129786 semapv:UnspecifiedMatching -DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref ICDO:9895/3 semapv:UnspecifiedMatching DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref NCI:C7600 semapv:UnspecifiedMatching +DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref ICDO:9895/3 semapv:UnspecifiedMatching DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes oboInOwl:hasDbXref UMLS_CUI:C2825139 semapv:UnspecifiedMatching -DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) oboInOwl:hasDbXref ICDO:9896/3 semapv:UnspecifiedMatching DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) oboInOwl:hasDbXref NCI:C9288 semapv:UnspecifiedMatching +DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) oboInOwl:hasDbXref ICDO:9896/3 semapv:UnspecifiedMatching DOID:0081094 acute myeloid leukemia with MLL rearrangement oboInOwl:hasDbXref ICDO:9897/3 semapv:UnspecifiedMatching DOID:0081094 acute myeloid leukemia with MLL rearrangement oboInOwl:hasDbXref NCI:C174129 semapv:UnspecifiedMatching -DOID:0081095 acute myeloid leukemia with mutated CEBPA oboInOwl:hasDbXref NCI:C82433 semapv:UnspecifiedMatching DOID:0081095 acute myeloid leukemia with mutated CEBPA oboInOwl:hasDbXref ICDO:9861/3 semapv:UnspecifiedMatching -DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref NCI:C82427 semapv:UnspecifiedMatching +DOID:0081095 acute myeloid leukemia with mutated CEBPA oboInOwl:hasDbXref NCI:C82433 semapv:UnspecifiedMatching DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref ICDO:9911/3 semapv:UnspecifiedMatching +DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) oboInOwl:hasDbXref NCI:C82427 semapv:UnspecifiedMatching DOID:0081097 Rafiq syndrome oboInOwl:hasDbXref OMIM:614202 semapv:UnspecifiedMatching DOID:0081098 autosomal recessive intellectual developmental disorder 13 oboInOwl:hasDbXref OMIM:613192 semapv:UnspecifiedMatching DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies oboInOwl:hasDbXref OMIM:615286 semapv:UnspecifiedMatching @@ -6000,8 +6013,8 @@ DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref GARD:5555 semap DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref MESH:C536692 semapv:UnspecifiedMatching DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref OMIM:312910 semapv:UnspecifiedMatching DOID:0081100 spastic paraplegia with deafness oboInOwl:hasDbXref ORDO:2815 semapv:UnspecifiedMatching -DOID:0081101 nonautoimmune hyperthyroidism oboInOwl:hasDbXref OMIM:609152 semapv:UnspecifiedMatching DOID:0081101 nonautoimmune hyperthyroidism oboInOwl:hasDbXref ORDO:424 semapv:UnspecifiedMatching +DOID:0081101 nonautoimmune hyperthyroidism oboInOwl:hasDbXref OMIM:609152 semapv:UnspecifiedMatching DOID:0081102 familial gestational hyperthyroidism oboInOwl:hasDbXref OMIM:603373 semapv:UnspecifiedMatching DOID:0081102 familial gestational hyperthyroidism oboInOwl:hasDbXref ORDO:99819 semapv:UnspecifiedMatching DOID:0081104 hot water epilepsy oboInOwl:hasDbXref OMIMPS:613339 semapv:UnspecifiedMatching @@ -6014,10 +6027,10 @@ DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref MESH:C536162 DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref ORDO:369999 semapv:UnspecifiedMatching DOID:0081108 keratosis palmoplantaris striata 1 oboInOwl:hasDbXref ORDO:370002 semapv:UnspecifiedMatching -DOID:0081109 keratosis palmoplantaris striata 2 oboInOwl:hasDbXref MESH:C565102 semapv:UnspecifiedMatching DOID:0081109 keratosis palmoplantaris striata 2 oboInOwl:hasDbXref OMIM:612908 semapv:UnspecifiedMatching -DOID:0081110 keratosis palmoplantaris striata 3 oboInOwl:hasDbXref MESH:C536163 semapv:UnspecifiedMatching +DOID:0081109 keratosis palmoplantaris striata 2 oboInOwl:hasDbXref MESH:C565102 semapv:UnspecifiedMatching DOID:0081110 keratosis palmoplantaris striata 3 oboInOwl:hasDbXref OMIM:607654 semapv:UnspecifiedMatching +DOID:0081110 keratosis palmoplantaris striata 3 oboInOwl:hasDbXref MESH:C536163 semapv:UnspecifiedMatching DOID:0081111 osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref OMIM:615198 semapv:UnspecifiedMatching DOID:0081111 osteosclerotic metaphyseal dysplasia oboInOwl:hasDbXref ORDO:500548 semapv:UnspecifiedMatching DOID:0081112 Baraitser-Winter syndrome 1 oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching @@ -6039,23 +6052,23 @@ DOID:0081123 X-linked mental retardation Gustavson type oboInOwl:hasDbXref OMIM: DOID:0081123 X-linked mental retardation Gustavson type oboInOwl:hasDbXref ORDO:3078 semapv:UnspecifiedMatching DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 oboInOwl:hasDbXref OMIM:616994 semapv:UnspecifiedMatching -DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:466950 semapv:UnspecifiedMatching -DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:466943 semapv:UnspecifiedMatching DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:284169 semapv:UnspecifiedMatching +DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:466943 semapv:UnspecifiedMatching +DOID:0081126 DeSanto-Shinawi syndrome oboInOwl:hasDbXref ORDO:466950 semapv:UnspecifiedMatching +DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref ORDO:2457 semapv:UnspecifiedMatching DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref GARD:11893 semapv:UnspecifiedMatching DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref OMIMPS:248370 semapv:UnspecifiedMatching -DOID:0081127 mandibuloacral dysplasia oboInOwl:hasDbXref ORDO:2457 semapv:UnspecifiedMatching -DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref GARD:3374 semapv:UnspecifiedMatching DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref OMIM:248370 semapv:UnspecifiedMatching DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref ORDO:90153 semapv:UnspecifiedMatching +DOID:0081128 mandibuloacral dysplasia type A lipodystrophy oboInOwl:hasDbXref GARD:3374 semapv:UnspecifiedMatching DOID:0081129 mandibuloacral dysplasia type B lipodystrophy oboInOwl:hasDbXref OMIM:608612 semapv:UnspecifiedMatching DOID:0081130 BH4-deficient hyperphenylalaninemia C oboInOwl:hasDbXref OMIM:261630 semapv:UnspecifiedMatching DOID:0081131 BH4-deficient hyperphenylalaninemia D oboInOwl:hasDbXref GARD:2843 semapv:UnspecifiedMatching DOID:0081131 BH4-deficient hyperphenylalaninemia D oboInOwl:hasDbXref OMIM:264070 semapv:UnspecifiedMatching DOID:0081131 BH4-deficient hyperphenylalaninemia D oboInOwl:hasDbXref ORDO:1578 semapv:UnspecifiedMatching -DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia oboInOwl:hasDbXref ORDO:238583 semapv:UnspecifiedMatching DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia oboInOwl:hasDbXref GARD:7751 semapv:UnspecifiedMatching +DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia oboInOwl:hasDbXref ORDO:238583 semapv:UnspecifiedMatching DOID:0081133 3-methylglutaconic aciduria type 7a oboInOwl:hasDbXref OMIM:619835 semapv:UnspecifiedMatching DOID:0081134 3-methylglutaconic aciduria type 7b oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching DOID:0081135 agammaglobulinemia 2 oboInOwl:hasDbXref OMIM:613500 semapv:UnspecifiedMatching @@ -6177,14 +6190,14 @@ DOID:0081250 CIC-rearranged sarcoma oboInOwl:hasDbXref ICDO:9367/3 semapv:Unspec DOID:0081250 CIC-rearranged sarcoma oboInOwl:hasDbXref NCI:C120224 semapv:UnspecifiedMatching DOID:0081251 papillary tumor of the pineal region oboInOwl:hasDbXref ICDO:9395/3 semapv:UnspecifiedMatching DOID:0081251 papillary tumor of the pineal region oboInOwl:hasDbXref NCI:C92624 semapv:UnspecifiedMatching -DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive oboInOwl:hasDbXref NCI:C186350 semapv:UnspecifiedMatching +DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive oboInOwl:hasDbXref NCI:C186351 semapv:UnspecifiedMatching -DOID:0081254 posterior fossa group A ependymoma oboInOwl:hasDbXref NCI:C186450 semapv:UnspecifiedMatching DOID:0081254 posterior fossa group A ependymoma oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching -DOID:0081255 posterior fossa group B ependymoma oboInOwl:hasDbXref NCI:C186451 semapv:UnspecifiedMatching +DOID:0081254 posterior fossa group A ependymoma oboInOwl:hasDbXref NCI:C186450 semapv:UnspecifiedMatching DOID:0081255 posterior fossa group B ependymoma oboInOwl:hasDbXref ICDO:9396/3 semapv:UnspecifiedMatching +DOID:0081255 posterior fossa group B ependymoma oboInOwl:hasDbXref NCI:C186451 semapv:UnspecifiedMatching DOID:0081256 astrocytoma, IDH-mutant, grade 2 oboInOwl:hasDbXref ICDO:9400/3 semapv:UnspecifiedMatching DOID:0081256 astrocytoma, IDH-mutant, grade 2 oboInOwl:hasDbXref NCI:C129271 semapv:UnspecifiedMatching DOID:0081257 astrocytoma, IDH-mutant, grade 3 oboInOwl:hasDbXref ICDO:9401/3 semapv:UnspecifiedMatching @@ -6192,8 +6205,8 @@ DOID:0081257 astrocytoma, IDH-mutant, grade 3 oboInOwl:hasDbXref NCI:C129290 sem DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma oboInOwl:hasDbXref ICDO:9412/1 semapv:UnspecifiedMatching DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma oboInOwl:hasDbXref NCI:C4738 semapv:UnspecifiedMatching DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma oboInOwl:hasDbXref NCI:C9476 semapv:UnspecifiedMatching -DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered oboInOwl:hasDbXref ICDO:9421/1 semapv:UnspecifiedMatching DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered oboInOwl:hasDbXref NCI:C185218 semapv:UnspecifiedMatching +DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered oboInOwl:hasDbXref ICDO:9421/1 semapv:UnspecifiedMatching DOID:0081261 angiocentric glioma oboInOwl:hasDbXref ICDO:9431/1 semapv:UnspecifiedMatching DOID:0081261 angiocentric glioma oboInOwl:hasDbXref NCI:C92552 semapv:UnspecifiedMatching DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies oboInOwl:hasDbXref KEGG:H02463 semapv:UnspecifiedMatching @@ -6216,16 +6229,16 @@ DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation oboInOwl:hasDbXref ORDO:480898 semapv:UnspecifiedMatching DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype oboInOwl:hasDbXref NCI:C185467 semapv:UnspecifiedMatching -DOID:0081278 infant-type hemispheric glioma oboInOwl:hasDbXref NCI:C185471 semapv:UnspecifiedMatching DOID:0081278 infant-type hemispheric glioma oboInOwl:hasDbXref ICDO:9385/3 semapv:UnspecifiedMatching +DOID:0081278 infant-type hemispheric glioma oboInOwl:hasDbXref NCI:C185471 semapv:UnspecifiedMatching DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered oboInOwl:hasDbXref ICDO:9421/1 semapv:UnspecifiedMatching DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered oboInOwl:hasDbXref NCI:C185196 semapv:UnspecifiedMatching DOID:0081280 pituicytoma oboInOwl:hasDbXref ICDO:9432/1 semapv:UnspecifiedMatching DOID:0081280 pituicytoma oboInOwl:hasDbXref NCI:C94524 semapv:UnspecifiedMatching DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 oboInOwl:hasDbXref ICDO:9450/3 semapv:UnspecifiedMatching DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 oboInOwl:hasDbXref ICDO:9451/3 semapv:UnspecifiedMatching -DOID:0081283 papillary glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/1 semapv:UnspecifiedMatching DOID:0081283 papillary glioneuronal tumor oboInOwl:hasDbXref NCI:C92554 semapv:UnspecifiedMatching +DOID:0081283 papillary glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/1 semapv:UnspecifiedMatching DOID:0081284 rosette-forming glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/1 semapv:UnspecifiedMatching DOID:0081284 rosette-forming glioneuronal tumor oboInOwl:hasDbXref NCI:C129431 semapv:UnspecifiedMatching DOID:0081285 myxoid glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/1 semapv:UnspecifiedMatching @@ -6239,24 +6252,24 @@ DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis oboInOwl: DOID:0081293 salivary gland mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C5908 semapv:UnspecifiedMatching DOID:0081294 neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 semapv:UnspecifiedMatching DOID:0081295 essential tremor 6 oboInOwl:hasDbXref OMIM:618866 semapv:UnspecifiedMatching -DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref GARD:12592 semapv:UnspecifiedMatching DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref OMIMPS:164310 semapv:UnspecifiedMatching DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref ORDO:98897 semapv:UnspecifiedMatching +DOID:0081296 oculopharyngodistal myopathy oboInOwl:hasDbXref GARD:12592 semapv:UnspecifiedMatching DOID:0081297 oculopharyngodistal myopathy 1 oboInOwl:hasDbXref OMIM:164310 semapv:UnspecifiedMatching DOID:0081298 oculopharyngodistal myopathy 2 oboInOwl:hasDbXref OMIM:618940 semapv:UnspecifiedMatching DOID:0081299 oculopharyngodistal myopathy 3 oboInOwl:hasDbXref OMIM:619473 semapv:UnspecifiedMatching DOID:0081300 oculopharyngodistal myopathy 4 oboInOwl:hasDbXref OMIM:619790 semapv:UnspecifiedMatching DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features oboInOwl:hasDbXref OMIM:620086 semapv:UnspecifiedMatching -DOID:0081302 diffuse leptomeningeal glioneuronal tumor oboInOwl:hasDbXref NCI:C129424 semapv:UnspecifiedMatching DOID:0081302 diffuse leptomeningeal glioneuronal tumor oboInOwl:hasDbXref ICDO:9509/3 semapv:UnspecifiedMatching +DOID:0081302 diffuse leptomeningeal glioneuronal tumor oboInOwl:hasDbXref NCI:C129424 semapv:UnspecifiedMatching DOID:0081303 multinodular and vacuolating neuronal tumor oboInOwl:hasDbXref ICDO:9509/0 semapv:UnspecifiedMatching DOID:0081303 multinodular and vacuolating neuronal tumor oboInOwl:hasDbXref NCI:C129427 semapv:UnspecifiedMatching DOID:0081304 high-grade astrocytoma with piloid features oboInOwl:hasDbXref ICDO:9421/3 semapv:UnspecifiedMatching DOID:0081304 high-grade astrocytoma with piloid features oboInOwl:hasDbXref NCI:C185879 semapv:UnspecifiedMatching DOID:0081305 polymorphous low grade neuroepithelial tumour of the young oboInOwl:hasDbXref ICDO:9413/0 semapv:UnspecifiedMatching DOID:0081305 polymorphous low grade neuroepithelial tumour of the young oboInOwl:hasDbXref NCI:C180378 semapv:UnspecifiedMatching -DOID:0081306 spindle cell oncocytoma oboInOwl:hasDbXref ICDO:8290/0 semapv:UnspecifiedMatching DOID:0081306 spindle cell oncocytoma oboInOwl:hasDbXref NCI:C94537 semapv:UnspecifiedMatching +DOID:0081306 spindle cell oncocytoma oboInOwl:hasDbXref ICDO:8290/0 semapv:UnspecifiedMatching DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref ICDO:9766/1 semapv:UnspecifiedMatching DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref NCI:C7930 semapv:UnspecifiedMatching DOID:0081307 lymphomatoid granulomatosis oboInOwl:hasDbXref UMLS_CUI:C0024307 semapv:UnspecifiedMatching @@ -6270,50 +6283,65 @@ DOID:0081311 intravascular large B-cell lymphoma oboInOwl:hasDbXref NCI:C4342 se DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref ICDO:9702/3 semapv:UnspecifiedMatching DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref NCI:C3466 semapv:UnspecifiedMatching DOID:0081312 T-cell non-Hodgkin lymphoma oboInOwl:hasDbXref UMLS_CUI:C0079772 semapv:UnspecifiedMatching -DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICDO:9680/3 semapv:UnspecifiedMatching -DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref NCI:C71720 semapv:UnspecifiedMatching DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref UMLS_CUI:C2026186 semapv:UnspecifiedMatching +DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref NCI:C71720 semapv:UnspecifiedMatching +DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system oboInOwl:hasDbXref ICDO:9680/3 semapv:UnspecifiedMatching DOID:0081314 extraventricular neurocytoma oboInOwl:hasDbXref ICDO:9506/1 semapv:UnspecifiedMatching DOID:0081314 extraventricular neurocytoma oboInOwl:hasDbXref NCI:C92555 semapv:UnspecifiedMatching DOID:0081315 central nervous system tumor with BCOR internal tandem duplication oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching DOID:0081315 central nervous system tumor with BCOR internal tandem duplication oboInOwl:hasDbXref NCI:C186556 semapv:UnspecifiedMatching DOID:0081316 primary intracranial sarcoma, DICER1-mutant oboInOwl:hasDbXref ICDO:9480/3 semapv:UnspecifiedMatching DOID:0081316 primary intracranial sarcoma, DICER1-mutant oboInOwl:hasDbXref NCI:C186610 semapv:UnspecifiedMatching -DOID:0081317 multiple synostoses syndrome 1 oboInOwl:hasDbXref OMIM:186500 semapv:UnspecifiedMatching DOID:0081317 multiple synostoses syndrome 1 oboInOwl:hasDbXref GARD:3836 semapv:UnspecifiedMatching +DOID:0081317 multiple synostoses syndrome 1 oboInOwl:hasDbXref OMIM:186500 semapv:UnspecifiedMatching DOID:0081318 multiple synostoses syndrome 2 oboInOwl:hasDbXref GARD:9916 semapv:UnspecifiedMatching DOID:0081318 multiple synostoses syndrome 2 oboInOwl:hasDbXref OMIM:610017 semapv:UnspecifiedMatching DOID:0081319 multiple synostoses syndrome 3 oboInOwl:hasDbXref OMIM:612961 semapv:UnspecifiedMatching DOID:0081320 multiple synostoses syndrome 4 oboInOwl:hasDbXref OMIM:617898 semapv:UnspecifiedMatching DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A oboInOwl:hasDbXref OMIM:178110 semapv:UnspecifiedMatching +DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A oboInOwl:hasDbXref ORDO:65743 semapv:UnspecifiedMatching +DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref ORDO:2990 semapv:UnspecifiedMatching DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref GARD:7111 semapv:UnspecifiedMatching DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref OMIM:618469 semapv:UnspecifiedMatching -DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B oboInOwl:hasDbXref ORDO:2990 semapv:UnspecifiedMatching DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss oboInOwl:hasDbXref OMIM:620071 semapv:UnspecifiedMatching DOID:0081325 developmental and epileptic encephalopathy 94 oboInOwl:hasDbXref OMIM:615369 semapv:UnspecifiedMatching DOID:0081326 oxoglutarate dehydrogenase deficiency oboInOwl:hasDbXref GARD:617 semapv:UnspecifiedMatching DOID:0081326 oxoglutarate dehydrogenase deficiency oboInOwl:hasDbXref OMIM:203740 semapv:UnspecifiedMatching DOID:0081326 oxoglutarate dehydrogenase deficiency oboInOwl:hasDbXref ORDO:31 semapv:UnspecifiedMatching DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures oboInOwl:hasDbXref OMIM:618088 semapv:UnspecifiedMatching -DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ORDO:2052 semapv:UnspecifiedMatching -DOID:0090001 Fraser syndrome oboInOwl:hasDbXref OMIMPS:219000 semapv:UnspecifiedMatching +DOID:0081328 familial hyperinsulinemic hypoglycemia 8 oboInOwl:hasDbXref OMIM:620211 semapv:UnspecifiedMatching +DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref UMLS_CUI:C0017920 semapv:UnspecifiedMatching +DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref ICD10CM:E74.01 semapv:UnspecifiedMatching +DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref MESH:D005953 semapv:UnspecifiedMatching +DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref NCI:C84733 semapv:UnspecifiedMatching +DOID:0081329 glycogen storage disease I oboInOwl:hasDbXref ORDO:364 semapv:UnspecifiedMatching +DOID:0081330 glycogen storage disease Ib oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching +DOID:0081331 glycogen storage disease Ic oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching +DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref ORDO:3455 semapv:UnspecifiedMatching +DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref OMIM:264090 semapv:UnspecifiedMatching +DOID:0081333 Wiedemann-Rautenstrauch syndrome oboInOwl:hasDbXref GARD:330 semapv:UnspecifiedMatching +DOID:0081334 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref GARD:11008 semapv:UnspecifiedMatching +DOID:0081334 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref OMIM:614008 semapv:UnspecifiedMatching +DOID:0081334 Nestor-Guillermo progeria syndrome oboInOwl:hasDbXref ORDO:280576 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref GARD:6465 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref MESH:D058497 semapv:UnspecifiedMatching +DOID:0090001 Fraser syndrome oboInOwl:hasDbXref OMIMPS:219000 semapv:UnspecifiedMatching +DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ORDO:2052 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref GARD:7772 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref MESH:C536919 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref OMIM:103500 semapv:UnspecifiedMatching DOID:0090002 Tietz syndrome oboInOwl:hasDbXref ORDO:42665 semapv:UnspecifiedMatching -DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref OMIM:218000 semapv:UnspecifiedMatching DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref ORDO:1496 semapv:UnspecifiedMatching -DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ORDO:1159 semapv:UnspecifiedMatching +DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref OMIM:218000 semapv:UnspecifiedMatching +DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ICD10CM:Q77.7 semapv:UnspecifiedMatching DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref OMIM:208230 semapv:UnspecifiedMatching -DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref ORDO:800 semapv:UnspecifiedMatching -DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref OMIM:255800 semapv:UnspecifiedMatching -DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching +DOID:0090004 progressive pseudorheumatoid arthropathy of childhood oboInOwl:hasDbXref ORDO:1159 semapv:UnspecifiedMatching DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref GARD:250 semapv:UnspecifiedMatching +DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching +DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref OMIM:255800 semapv:UnspecifiedMatching +DOID:0090005 Schwartz-Jampel syndrome 1 oboInOwl:hasDbXref ORDO:800 semapv:UnspecifiedMatching DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref GARD:4106 semapv:UnspecifiedMatching DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref ICD10CM:Q60.4 semapv:UnspecifiedMatching DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref OMIM:120330 semapv:UnspecifiedMatching @@ -6321,109 +6349,109 @@ DOID:0090006 renal coloboma syndrome oboInOwl:hasDbXref ORDO:1475 semapv:Unspeci DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome oboInOwl:hasDbXref OMIMPS:242860 semapv:UnspecifiedMatching DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome oboInOwl:hasDbXref ORDO:2268 semapv:UnspecifiedMatching -DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oboInOwl:hasDbXref OMIM:242860 semapv:UnspecifiedMatching +DOID:0090008 immunodeficiency-centromeric instability-facial anomalies syndrome 1 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching DOID:0090009 immunodeficiency-centromeric instability-facial anomalies syndrome 2 oboInOwl:hasDbXref OMIM:614069 semapv:UnspecifiedMatching DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching DOID:0090010 immunodeficiency-centromeric instability-facial anomalies syndrome 3 oboInOwl:hasDbXref OMIM:616910 semapv:UnspecifiedMatching -DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 oboInOwl:hasDbXref OMIM:616911 semapv:UnspecifiedMatching DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 oboInOwl:hasDbXref ICD10CM:D84.8 semapv:UnspecifiedMatching -DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref ICD10CM:D81.1 semapv:UnspecifiedMatching -DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref MESH:C537589 semapv:UnspecifiedMatching -DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref OMIM:602450 semapv:UnspecifiedMatching +DOID:0090011 immunodeficiency-centromeric instability-facial anomalies syndrome 4 oboInOwl:hasDbXref OMIM:616911 semapv:UnspecifiedMatching DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref ORDO:275 semapv:UnspecifiedMatching +DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref OMIM:602450 semapv:UnspecifiedMatching +DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref MESH:C537589 semapv:UnspecifiedMatching +DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation oboInOwl:hasDbXref ICD10CM:D81.1 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref ICD10CM:D81.1 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref MESH:C563311 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref OMIM:601457 semapv:UnspecifiedMatching DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive oboInOwl:hasDbXref ORDO:331206 semapv:UnspecifiedMatching -DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref ICD10CM:D81.2 semapv:UnspecifiedMatching +DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref ORDO:169154 semapv:UnspecifiedMatching DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref MESH:C563822 semapv:UnspecifiedMatching +DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref ICD10CM:D81.2 semapv:UnspecifiedMatching DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref OMIM:608971 semapv:UnspecifiedMatching -DOID:0090014 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive oboInOwl:hasDbXref ORDO:169154 semapv:UnspecifiedMatching -DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref ORDO:3258 semapv:UnspecifiedMatching -DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref GARD:5084 semapv:UnspecifiedMatching +DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref OMIM:212780 semapv:UnspecifiedMatching +DOID:0090015 Cenani-Lenz syndactyly syndrome oboInOwl:hasDbXref ORDO:3258 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref GARD:10840 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref ICD10CM:D46.7 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref MESH:C535323 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref OMIM:153550 semapv:UnspecifiedMatching DOID:0090016 chromosome 5q deletion syndrome oboInOwl:hasDbXref ORDO:86841 semapv:UnspecifiedMatching -DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref OMIM:226670 semapv:UnspecifiedMatching +DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy oboInOwl:hasDbXref ORDO:257 semapv:UnspecifiedMatching DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref ORDO:32960 semapv:UnspecifiedMatching -DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref GARD:8457 semapv:UnspecifiedMatching -DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref ICD10CM:E85.0 semapv:UnspecifiedMatching DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref OMIM:142680 semapv:UnspecifiedMatching -DOID:0090019 sitosterolemia oboInOwl:hasDbXref UMLS_CUI:C0342907 semapv:UnspecifiedMatching -DOID:0090019 sitosterolemia oboInOwl:hasDbXref ORDO:2882 semapv:UnspecifiedMatching -DOID:0090019 sitosterolemia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching +DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref ICD10CM:E85.0 semapv:UnspecifiedMatching +DOID:0090018 autosomal dominant familial periodic fever oboInOwl:hasDbXref GARD:8457 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref GARD:7653 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref MESH:C537345 semapv:UnspecifiedMatching DOID:0090019 sitosterolemia oboInOwl:hasDbXref NCI:C125694 semapv:UnspecifiedMatching -DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching +DOID:0090019 sitosterolemia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching +DOID:0090019 sitosterolemia oboInOwl:hasDbXref ORDO:2882 semapv:UnspecifiedMatching +DOID:0090019 sitosterolemia oboInOwl:hasDbXref UMLS_CUI:C0342907 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref GARD:6319 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref OMIMPS:183600 semapv:UnspecifiedMatching +DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090020 split hand-foot malformation oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref OMIM:183600 semapv:UnspecifiedMatching -DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref ICD10CM:Q71.6 semapv:UnspecifiedMatching DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref OMIM:606708 semapv:UnspecifiedMatching -DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching +DOID:0090021 split hand-foot malformation 1 oboInOwl:hasDbXref ICD10CM:Q71.6 semapv:UnspecifiedMatching DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching +DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching +DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref OMIM:606708 semapv:UnspecifiedMatching +DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching +DOID:0090022 split hand-foot malformation 5 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref OMIM:605289 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090023 split hand-foot malformation 4 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching -DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref ORDO:71271 semapv:UnspecifiedMatching -DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching -DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching +DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref OMIM:220600 semapv:UnspecifiedMatching +DOID:0090024 split hand-foot malformation 1 with sensorineural hearing loss oboInOwl:hasDbXref ORDO:71271 semapv:UnspecifiedMatching +DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching +DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching -DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching -DOID:0090025 split hand-foot malformation 3 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching -DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching -DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref OMIM:225300 semapv:UnspecifiedMatching +DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching +DOID:0090026 split hand-foot malformation 6 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref MESH:C574275 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref NCI:C75000 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref OMIM:313350 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref ORDO:2440 semapv:UnspecifiedMatching DOID:0090027 split hand-foot malformation 2 oboInOwl:hasDbXref UMLS_CUI:C0265554 semapv:UnspecifiedMatching +DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref OMIM:277460 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref UMLS_CUI:C1848533 semapv:UnspecifiedMatching +DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref ORDO:96 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref MESH:C535393 semapv:UnspecifiedMatching DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref NCI:C155996 semapv:UnspecifiedMatching -DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref OMIM:277460 semapv:UnspecifiedMatching -DOID:0090028 familial isolated deficiency of vitamin E oboInOwl:hasDbXref ORDO:96 semapv:UnspecifiedMatching -DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref ORDO:1451 semapv:UnspecifiedMatching -DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref ICD10CM:E85.0 semapv:UnspecifiedMatching +DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref OMIM:607115 semapv:UnspecifiedMatching +DOID:0090029 CINCA Syndrome oboInOwl:hasDbXref ORDO:1451 semapv:UnspecifiedMatching +DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ORDO:199247 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref GARD:13101 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ICD10CM:E27.8 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref MESH:C565152 semapv:UnspecifiedMatching DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OMIM:611489 semapv:UnspecifiedMatching -DOID:0090030 corticosteroid-binding globulin deficiency oboInOwl:hasDbXref ORDO:199247 semapv:UnspecifiedMatching -DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref GARD:4539 semapv:UnspecifiedMatching -DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref ICD10CM:E71.3 semapv:UnspecifiedMatching DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref OMIM:261515 semapv:UnspecifiedMatching DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref ORDO:300 semapv:UnspecifiedMatching -DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref ICD10CM:Q77.7 semapv:UnspecifiedMatching -DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref OMIM:224410 semapv:UnspecifiedMatching +DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref GARD:4539 semapv:UnspecifiedMatching +DOID:0090031 D-bifunctional protein deficiency oboInOwl:hasDbXref ICD10CM:E71.3 semapv:UnspecifiedMatching DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref ORDO:1865 semapv:UnspecifiedMatching +DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref OMIM:224410 semapv:UnspecifiedMatching +DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia oboInOwl:hasDbXref ICD10CM:Q77.7 semapv:UnspecifiedMatching DOID:0090033 myoclonic dystonia oboInOwl:hasDbXref MESH:C536096 semapv:UnspecifiedMatching -DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref ORDO:36899 semapv:UnspecifiedMatching -DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref OMIM:159900 semapv:UnspecifiedMatching DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching +DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref OMIM:159900 semapv:UnspecifiedMatching +DOID:0090034 myoclonic dystonia 11 oboInOwl:hasDbXref ORDO:36899 semapv:UnspecifiedMatching DOID:0090035 myoclonic dystonia 15 oboInOwl:hasDbXref OMIM:607488 semapv:UnspecifiedMatching DOID:0090035 myoclonic dystonia 15 oboInOwl:hasDbXref ORDO:210566 semapv:UnspecifiedMatching DOID:0090036 myoclonic dystonia 26 oboInOwl:hasDbXref OMIM:616398 semapv:UnspecifiedMatching @@ -6433,125 +6461,125 @@ DOID:0090037 torsion dystonia 13 oboInOwl:hasDbXref ORDO:98807 semapv:Unspecifie DOID:0090038 torsion dystonia 2 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090038 torsion dystonia 2 oboInOwl:hasDbXref OMIM:224500 semapv:UnspecifiedMatching DOID:0090038 torsion dystonia 2 oboInOwl:hasDbXref ORDO:99657 semapv:UnspecifiedMatching -DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref OMIM:602629 semapv:UnspecifiedMatching DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref ORDO:98806 semapv:UnspecifiedMatching +DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref OMIM:602629 semapv:UnspecifiedMatching +DOID:0090039 torsion dystonia 6 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090040 torsion dystonia 7 oboInOwl:hasDbXref OMIM:602124 semapv:UnspecifiedMatching +DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref OMIM:128101 semapv:UnspecifiedMatching DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref ORDO:98805 semapv:UnspecifiedMatching -DOID:0090041 torsion dystonia 4 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching -DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ORDO:370103 semapv:UnspecifiedMatching -DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching +DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref OMIM:612406 semapv:UnspecifiedMatching +DOID:0090042 torsion dystonia 17 oboInOwl:hasDbXref ORDO:370103 semapv:UnspecifiedMatching DOID:0090043 dystonia 5 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090043 dystonia 5 oboInOwl:hasDbXref OMIM:128230 semapv:UnspecifiedMatching DOID:0090043 dystonia 5 oboInOwl:hasDbXref ORDO:98808 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref OMIM:601042 semapv:UnspecifiedMatching DOID:0090044 dystonia 9 oboInOwl:hasDbXref ORDO:53583 semapv:UnspecifiedMatching +DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ORDO:98811 semapv:UnspecifiedMatching DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching -DOID:0090045 childhood onset GLUT1 deficiency syndrome 2 oboInOwl:hasDbXref ORDO:98811 semapv:UnspecifiedMatching DOID:0090046 dystonia 21 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090046 dystonia 21 oboInOwl:hasDbXref OMIM:614588 semapv:UnspecifiedMatching DOID:0090046 dystonia 21 oboInOwl:hasDbXref ORDO:306734 semapv:UnspecifiedMatching -DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref ORDO:98810 semapv:UnspecifiedMatching -DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref OMIM:611147 semapv:UnspecifiedMatching DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref MESH:C567001 semapv:UnspecifiedMatching +DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref OMIM:611147 semapv:UnspecifiedMatching +DOID:0090047 paroxysmal nonkinesigenic dyskinesia 2 oboInOwl:hasDbXref ORDO:98810 semapv:UnspecifiedMatching +DOID:0090048 dystonia 16 oboInOwl:hasDbXref ORDO:210571 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref GARD:10539 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref MESH:C567430 semapv:UnspecifiedMatching DOID:0090048 dystonia 16 oboInOwl:hasDbXref OMIM:612067 semapv:UnspecifiedMatching -DOID:0090048 dystonia 16 oboInOwl:hasDbXref ORDO:210571 semapv:UnspecifiedMatching +DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref ORDO:98810 semapv:UnspecifiedMatching DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref OMIM:118800 semapv:UnspecifiedMatching DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 oboInOwl:hasDbXref ORDO:98810 semapv:UnspecifiedMatching DOID:0090050 dystonia 27 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090050 dystonia 27 oboInOwl:hasDbXref OMIM:616411 semapv:UnspecifiedMatching DOID:0090050 dystonia 27 oboInOwl:hasDbXref ORDO:464440 semapv:UnspecifiedMatching +DOID:0090051 dystonia 23 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090051 dystonia 23 oboInOwl:hasDbXref OMIM:614860 semapv:UnspecifiedMatching DOID:0090051 dystonia 23 oboInOwl:hasDbXref ORDO:420492 semapv:UnspecifiedMatching -DOID:0090051 dystonia 23 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090052 dystonia 24 oboInOwl:hasDbXref ORDO:420485 semapv:UnspecifiedMatching DOID:0090052 dystonia 24 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090052 dystonia 24 oboInOwl:hasDbXref OMIM:615034 semapv:UnspecifiedMatching -DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref GARD:8721 semapv:UnspecifiedMatching -DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref OMIM:128200 semapv:UnspecifiedMatching DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref ORDO:98809 semapv:UnspecifiedMatching -DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching -DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref MESH:C567026 semapv:UnspecifiedMatching -DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref OMIM:611031 semapv:UnspecifiedMatching +DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref GARD:8721 semapv:UnspecifiedMatching +DOID:0090053 episodic kinesigenic dyskinesia 1 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref ORDO:98809 semapv:UnspecifiedMatching +DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref OMIM:611031 semapv:UnspecifiedMatching +DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref MESH:C567026 semapv:UnspecifiedMatching +DOID:0090054 episodic kinesigenic dyskinesia 2 oboInOwl:hasDbXref ICD10CM:G24.8 semapv:UnspecifiedMatching DOID:0090055 dystonia 25 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090055 dystonia 25 oboInOwl:hasDbXref OMIM:615073 semapv:UnspecifiedMatching DOID:0090055 dystonia 25 oboInOwl:hasDbXref ORDO:329466 semapv:UnspecifiedMatching -DOID:0090056 dystonia 12 oboInOwl:hasDbXref ORDO:71517 semapv:UnspecifiedMatching -DOID:0090056 dystonia 12 oboInOwl:hasDbXref OMIM:128235 semapv:UnspecifiedMatching -DOID:0090056 dystonia 12 oboInOwl:hasDbXref MESH:C538001 semapv:UnspecifiedMatching DOID:0090056 dystonia 12 oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching +DOID:0090056 dystonia 12 oboInOwl:hasDbXref MESH:C538001 semapv:UnspecifiedMatching +DOID:0090056 dystonia 12 oboInOwl:hasDbXref OMIM:128235 semapv:UnspecifiedMatching +DOID:0090056 dystonia 12 oboInOwl:hasDbXref ORDO:71517 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref GARD:10533 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref OMIM:314250 semapv:UnspecifiedMatching DOID:0090057 X-linked dystonia-parkinsonism oboInOwl:hasDbXref ORDO:53351 semapv:UnspecifiedMatching +DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref ORDO:256 semapv:UnspecifiedMatching +DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref OMIM:602554 semapv:UnspecifiedMatching DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref ICD10CM:G24.1 semapv:UnspecifiedMatching DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref MESH:C536969 semapv:UnspecifiedMatching -DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref OMIM:602554 semapv:UnspecifiedMatching -DOID:0090058 torsion dystonia with onset in infancy oboInOwl:hasDbXref ORDO:256 semapv:UnspecifiedMatching DOID:0090059 enhanced S-cone syndrome oboInOwl:hasDbXref MESH:C564835 semapv:UnspecifiedMatching DOID:0090059 enhanced S-cone syndrome oboInOwl:hasDbXref OMIM:268100 semapv:UnspecifiedMatching -DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 semapv:UnspecifiedMatching -DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref ORDO:1667 semapv:UnspecifiedMatching DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref ICD10CM:E13 semapv:UnspecifiedMatching DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref MESH:C536739 semapv:UnspecifiedMatching -DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching +DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref OMIM:226980 semapv:UnspecifiedMatching +DOID:0090060 Wolcott-Rallison syndrome oboInOwl:hasDbXref ORDO:1667 semapv:UnspecifiedMatching DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref OMIMPS:120100 semapv:UnspecifiedMatching +DOID:0090061 familial cold autoinflammatory syndrome oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching DOID:0090062 familial cold autoinflammatory syndrome 1 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching DOID:0090062 familial cold autoinflammatory syndrome 1 oboInOwl:hasDbXref OMIM:120100 semapv:UnspecifiedMatching DOID:0090062 familial cold autoinflammatory syndrome 1 oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching -DOID:0090063 familial cold autoinflammatory syndrome 2 oboInOwl:hasDbXref MESH:C567090 semapv:UnspecifiedMatching DOID:0090063 familial cold autoinflammatory syndrome 2 oboInOwl:hasDbXref OMIM:611762 semapv:UnspecifiedMatching -DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching -DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref OMIM:614468 semapv:UnspecifiedMatching +DOID:0090063 familial cold autoinflammatory syndrome 2 oboInOwl:hasDbXref MESH:C567090 semapv:UnspecifiedMatching DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref ORDO:300359 semapv:UnspecifiedMatching +DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref OMIM:614468 semapv:UnspecifiedMatching +DOID:0090064 familial cold autoinflammatory syndrome 3 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching DOID:0090065 familial cold autoinflammatory syndrome 4 oboInOwl:hasDbXref ICD10CM:L50.2 semapv:UnspecifiedMatching DOID:0090065 familial cold autoinflammatory syndrome 4 oboInOwl:hasDbXref OMIM:616115 semapv:UnspecifiedMatching DOID:0090065 familial cold autoinflammatory syndrome 4 oboInOwl:hasDbXref ORDO:47045 semapv:UnspecifiedMatching DOID:0090066 Fanconi-like syndrome oboInOwl:hasDbXref MESH:C536855 semapv:UnspecifiedMatching DOID:0090066 Fanconi-like syndrome oboInOwl:hasDbXref OMIM:227850 semapv:UnspecifiedMatching -DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref ORDO:2854 semapv:UnspecifiedMatching -DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref OMIM:228930 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref GARD:2410 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref ICD10CM:Q74.8 semapv:UnspecifiedMatching DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref MESH:C538189 semapv:UnspecifiedMatching +DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref OMIM:228930 semapv:UnspecifiedMatching +DOID:0090067 Fuhrmann syndrome oboInOwl:hasDbXref ORDO:2854 semapv:UnspecifiedMatching +DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref ORDO:643 semapv:UnspecifiedMatching DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref MESH:D056768 semapv:UnspecifiedMatching DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref OMIM:256850 semapv:UnspecifiedMatching -DOID:0090068 giant axonal neuropathy 1 oboInOwl:hasDbXref ORDO:643 semapv:UnspecifiedMatching DOID:0090069 giant axonal neuropathy 2 oboInOwl:hasDbXref OMIM:610100 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref OMIMPS:147950 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref ORDO:432 semapv:UnspecifiedMatching DOID:0090070 hypogonadotropic hypogonadism oboInOwl:hasDbXref ORDO:478 semapv:UnspecifiedMatching -DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia oboInOwl:hasDbXref OMIM:614841 semapv:UnspecifiedMatching +DOID:0090071 hypogonadotropic hypogonadism 11 with or without anosmia oboInOwl:hasDbXref OMIM:614840 semapv:UnspecifiedMatching DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching +DOID:0090072 hypogonadotropic hypogonadism 12 with or without anosmia oboInOwl:hasDbXref OMIM:614841 semapv:UnspecifiedMatching DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090073 hypogonadotropic hypogonadism 13 with or without anosmia oboInOwl:hasDbXref OMIM:614842 semapv:UnspecifiedMatching DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090074 hypogonadotropic hypogonadism 8 with or without anosmia oboInOwl:hasDbXref OMIM:614837 semapv:UnspecifiedMatching DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090075 hypogonadotropic hypogonadism 15 with or without anosmia oboInOwl:hasDbXref OMIM:614880 semapv:UnspecifiedMatching -DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia oboInOwl:hasDbXref OMIM:615267 semapv:UnspecifiedMatching -DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching +DOID:0090076 hypogonadotropic hypogonadism 18 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia oboInOwl:hasDbXref OMIM:610628 semapv:UnspecifiedMatching +DOID:0090077 hypogonadotropic hypogonadism 4 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090078 hypogonadotropic hypogonadism 7 with or without anosmia oboInOwl:hasDbXref OMIM:146110 semapv:UnspecifiedMatching -DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching +DOID:0090079 hypogonadotropic hypogonadism 17 with or without anosmia oboInOwl:hasDbXref OMIM:615266 semapv:UnspecifiedMatching DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090080 hypogonadotropic hypogonadism 16 with or without anosmia oboInOwl:hasDbXref OMIM:614897 semapv:UnspecifiedMatching DOID:0090081 hypogonadotropic hypogonadism 22 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching @@ -6562,15 +6590,15 @@ DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia oboInOwl:ha DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia oboInOwl:hasDbXref OMIM:147950 semapv:UnspecifiedMatching DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia oboInOwl:hasDbXref OMIM:612370 semapv:UnspecifiedMatching -DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia oboInOwl:hasDbXref OMIM:614838 semapv:UnspecifiedMatching +DOID:0090085 hypogonadotropic hypogonadism 9 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090086 hypogonadotropic hypogonadism 6 with or without anosmia oboInOwl:hasDbXref OMIM:612702 semapv:UnspecifiedMatching -DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref ORDO:52901 semapv:UnspecifiedMatching -DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref OMIM:229070 semapv:UnspecifiedMatching +DOID:0090087 hypogonadotropic hypogonadism 14 with or without anosmia oboInOwl:hasDbXref OMIM:614858 semapv:UnspecifiedMatching DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref ICD10CM:E23.6 semapv:UnspecifiedMatching +DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref OMIM:229070 semapv:UnspecifiedMatching +DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia oboInOwl:hasDbXref ORDO:52901 semapv:UnspecifiedMatching DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090089 hypogonadotropic hypogonadism 10 with or without anosmia oboInOwl:hasDbXref OMIM:614839 semapv:UnspecifiedMatching DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching @@ -6578,14 +6606,14 @@ DOID:0090090 hypogonadotropic hypogonadism 19 with or without anosmia oboInOwl:h DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia oboInOwl:hasDbXref ICD10CM:Q56.1 semapv:UnspecifiedMatching DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia oboInOwl:hasDbXref OMIM:228300 semapv:UnspecifiedMatching DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia oboInOwl:hasDbXref ORDO:325448 semapv:UnspecifiedMatching -DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia oboInOwl:hasDbXref OMIM:244200 semapv:UnspecifiedMatching +DOID:0090092 hypogonadotropic hypogonadism 3 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia oboInOwl:hasDbXref OMIM:615271 semapv:UnspecifiedMatching DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia oboInOwl:hasDbXref OMIM:308700 semapv:UnspecifiedMatching -DOID:0090100 ocular albinism with sensorineural deafness oboInOwl:hasDbXref ORDO:352740 semapv:UnspecifiedMatching DOID:0090100 ocular albinism with sensorineural deafness oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching +DOID:0090100 ocular albinism with sensorineural deafness oboInOwl:hasDbXref ORDO:352740 semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref ICD10CM:E74.0+ semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref ICD10CM:G73.6* semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref OMIM:261740 semapv:UnspecifiedMatching @@ -6593,15 +6621,15 @@ DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbX DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref OMIM:613112 semapv:UnspecifiedMatching DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref ORDO:140957 semapv:UnspecifiedMatching -DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching -DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ORDO:157941 semapv:UnspecifiedMatching +DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching +DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching DOID:0090104 Huntington's disease-like 2 oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching DOID:0090104 Huntington's disease-like 2 oboInOwl:hasDbXref OMIM:606438 semapv:UnspecifiedMatching DOID:0090104 Huntington's disease-like 2 oboInOwl:hasDbXref ORDO:98934 semapv:UnspecifiedMatching +DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.0 semapv:UnspecifiedMatching DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref OMIM:603813 semapv:UnspecifiedMatching DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref ORDO:391665 semapv:UnspecifiedMatching -DOID:0090105 autosomal recessive hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.0 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref GARD:5682 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref MESH:C535325 semapv:UnspecifiedMatching DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref NCI:C138171 semapv:UnspecifiedMatching @@ -6610,15 +6638,15 @@ DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref ORDO:13 se DOID:0090106 BH4-deficient hyperphenylalaninemia A oboInOwl:hasDbXref UMLS_CUI:C0878676 semapv:UnspecifiedMatching DOID:0090107 autosomal dominant hypocalcemia 1 oboInOwl:hasDbXref OMIM:601198 semapv:UnspecifiedMatching DOID:0090108 autosomal dominant hypocalcemia 2 oboInOwl:hasDbXref OMIM:615361 semapv:UnspecifiedMatching +DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref ORDO:428 semapv:UnspecifiedMatching +DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIMPS:601198 semapv:UnspecifiedMatching DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref GARD:2877 semapv:UnspecifiedMatching DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref ICD10CM:E20.8 semapv:UnspecifiedMatching -DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref OMIMPS:601198 semapv:UnspecifiedMatching -DOID:0090109 autosomal dominant hypocalcemia oboInOwl:hasDbXref ORDO:428 semapv:UnspecifiedMatching +DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref GARD:1850 semapv:UnspecifiedMatching +DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10CM:E31.0 semapv:UnspecifiedMatching +DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MESH:C580192 semapv:UnspecifiedMatching DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 semapv:UnspecifiedMatching DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ORDO:37042 semapv:UnspecifiedMatching -DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MESH:C580192 semapv:UnspecifiedMatching -DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10CM:E31.0 semapv:UnspecifiedMatching -DOID:0090110 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref GARD:1850 semapv:UnspecifiedMatching DOID:0090111 PCWH syndrome oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching DOID:0090111 PCWH syndrome oboInOwl:hasDbXref OMIM:609136 semapv:UnspecifiedMatching DOID:0090111 PCWH syndrome oboInOwl:hasDbXref ORDO:163746 semapv:UnspecifiedMatching @@ -6627,34 +6655,34 @@ DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref MESH:C536329 semapv:Unspecif DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref OMIM:221770 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref ORDO:2770 semapv:UnspecifiedMatching DOID:0090112 Nasu-Hakola disease oboInOwl:hasDbXref UMLS_CUI:C1857316 semapv:UnspecifiedMatching +DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref ORDO:420741 semapv:UnspecifiedMatching +DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref OMIM:611943 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref ICD10CM:D82.8 semapv:UnspecifiedMatching DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref MESH:C567453 semapv:UnspecifiedMatching -DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref OMIM:611943 semapv:UnspecifiedMatching -DOID:0090113 RIDDLE syndrome oboInOwl:hasDbXref ORDO:420741 semapv:UnspecifiedMatching DOID:0090114 Sorsby's fundus dystrophy oboInOwl:hasDbXref OMIM:136900 semapv:UnspecifiedMatching -DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref ORDO:94124 semapv:UnspecifiedMatching -DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref OMIM:607250 semapv:UnspecifiedMatching -DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref ICD10CM:G60.2 semapv:UnspecifiedMatching DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref GARD:10000 semapv:UnspecifiedMatching +DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref ICD10CM:G60.2 semapv:UnspecifiedMatching +DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref OMIM:607250 semapv:UnspecifiedMatching +DOID:0090115 spinocerebellar ataxia type 1 with axonal neuropathy oboInOwl:hasDbXref ORDO:94124 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref GARD:4974 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref ICD10CM:Q76.4 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref OMIM:272460 semapv:UnspecifiedMatching DOID:0090116 spondylocarpotarsal synostosis syndrome oboInOwl:hasDbXref ORDO:3275 semapv:UnspecifiedMatching -DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref GARD:9210 semapv:UnspecifiedMatching +DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS_CUI:C0342287 semapv:UnspecifiedMatching +DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ORDO:498277 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref MESH:C536510 semapv:UnspecifiedMatching +DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref GARD:9210 semapv:UnspecifiedMatching DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref OMIM:249270 semapv:UnspecifiedMatching -DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref ORDO:498277 semapv:UnspecifiedMatching -DOID:0090117 thiamine-responsive megaloblastic anemia syndrome oboInOwl:hasDbXref UMLS_CUI:C0342287 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ORDO:3319 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C1327915 semapv:UnspecifiedMatching -DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref GARD:640 semapv:UnspecifiedMatching +DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref MESH:C535982 semapv:UnspecifiedMatching DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref NCI:C115207 semapv:UnspecifiedMatching +DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref OMIM:604498 semapv:UnspecifiedMatching +DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref ORDO:3319 semapv:UnspecifiedMatching +DOID:0090118 congenital amegakaryocytic thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C1327915 semapv:UnspecifiedMatching +DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS_CUI:C1785148 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref MESH:C535289 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:106260 semapv:UnspecifiedMatching DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref ORDO:1071 semapv:UnspecifiedMatching -DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS_CUI:C1785148 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref UMLS_CUI:C0543669 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref ORDO:279943 semapv:UnspecifiedMatching DOID:0090120 hereditary neutrophilia oboInOwl:hasDbXref OMIM:162830 semapv:UnspecifiedMatching @@ -6663,26 +6691,26 @@ DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref GARD:12949 semapv:Unsp DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref ICD10CM:E30.1 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref OMIM:139300 semapv:UnspecifiedMatching DOID:0090122 aromatase excess syndrome oboInOwl:hasDbXref ORDO:178345 semapv:UnspecifiedMatching -DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ORDO:35708 semapv:UnspecifiedMatching -DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C1291564 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref OMIM:608643 semapv:UnspecifiedMatching +DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ORDO:35708 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref NCI:C142085 semapv:UnspecifiedMatching -DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MESH:C537437 semapv:UnspecifiedMatching +DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C1291564 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref ICD10CM:E70.81 semapv:UnspecifiedMatching DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref GARD:770 semapv:UnspecifiedMatching -DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching +DOID:0090123 aromatic L-amino acid decarboxylase deficiency oboInOwl:hasDbXref MESH:C537437 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref OMIM:208100 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref ORDO:1143 semapv:UnspecifiedMatching +DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref MESH:C536614 semapv:UnspecifiedMatching DOID:0090124 neurogenic-type arthrogryposis multiplex congenita-2 oboInOwl:hasDbXref UMLS_CUI:C1859721 semapv:UnspecifiedMatching -DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref ORDO:36383 semapv:UnspecifiedMatching +DOID:0090125 brain small vessel disease 1 oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency oboInOwl:hasDbXref ICD10CM:E71.1 semapv:UnspecifiedMatching DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency oboInOwl:hasDbXref OMIM:614923 semapv:UnspecifiedMatching DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency oboInOwl:hasDbXref ORDO:308410 semapv:UnspecifiedMatching -DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref ORDO:2848 semapv:UnspecifiedMatching -DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref UMLS_CUI:C1859690 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref MESH:C537560 semapv:UnspecifiedMatching DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref OMIM:208250 semapv:UnspecifiedMatching +DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref ORDO:2848 semapv:UnspecifiedMatching +DOID:0090127 camptodactyly-arthropathy-coxa vara-pericarditis syndrome oboInOwl:hasDbXref UMLS_CUI:C1859690 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref GARD:5595 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref MESH:C535581 semapv:UnspecifiedMatching DOID:0090128 Carvajal syndrome oboInOwl:hasDbXref OMIM:605676 semapv:UnspecifiedMatching @@ -6702,13 +6730,13 @@ DOID:0090133 complex cortical dysplasia with other brain malformations 2 oboInOw DOID:0090134 complex cortical dysplasia with other brain malformations 3 oboInOwl:hasDbXref OMIM:615411 semapv:UnspecifiedMatching DOID:0090135 complex cortical dysplasia with other brain malformations 5 oboInOwl:hasDbXref OMIM:615763 semapv:UnspecifiedMatching DOID:0090136 complex cortical dysplasia with other brain malformations 6 oboInOwl:hasDbXref OMIM:615771 semapv:UnspecifiedMatching -DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref OMIM:614039 semapv:UnspecifiedMatching +DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0090137 complex cortical dysplasia with other brain malformations 1 oboInOwl:hasDbXref ORDO:300570 semapv:UnspecifiedMatching DOID:0090138 complex cortical dysplasia with other brain malformations 4 oboInOwl:hasDbXref OMIM:615412 semapv:UnspecifiedMatching -DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref OMIMPS:604931 semapv:UnspecifiedMatching -DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref MESH:C536447 semapv:UnspecifiedMatching DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref GARD:9882 semapv:UnspecifiedMatching +DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref MESH:C536447 semapv:UnspecifiedMatching +DOID:0090139 cortisone reductase deficiency oboInOwl:hasDbXref OMIMPS:604931 semapv:UnspecifiedMatching DOID:0090140 cortisone reductase deficiency 2 oboInOwl:hasDbXref NCI:C131084 semapv:UnspecifiedMatching DOID:0090140 cortisone reductase deficiency 2 oboInOwl:hasDbXref OMIM:614662 semapv:UnspecifiedMatching DOID:0090141 cortisone reductase deficiency 1 oboInOwl:hasDbXref NCI:C131849 semapv:UnspecifiedMatching @@ -6717,28 +6745,28 @@ DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS_CUI:C0268616 semapv:Unspec DOID:0090142 cystathioninuria oboInOwl:hasDbXref UMLS_CUI:C0220993 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref ORDO:212 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref OMIM:219500 semapv:UnspecifiedMatching -DOID:0090142 cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref ICD10CM:E72.19 semapv:UnspecifiedMatching +DOID:0090142 cystathioninuria oboInOwl:hasDbXref MESH:C535408 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref GARD:2428 semapv:UnspecifiedMatching DOID:0090142 cystathioninuria oboInOwl:hasDbXref NCI:C129070 semapv:UnspecifiedMatching +DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ORDO:2899 semapv:UnspecifiedMatching +DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:601216 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref GARD:5478 semapv:UnspecifiedMatching DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ICD10CM:Q76.3 semapv:UnspecifiedMatching -DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref OMIM:601216 semapv:UnspecifiedMatching -DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome oboInOwl:hasDbXref ORDO:2899 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref GARD:1899 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref MESH:C536390 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref OMIM:222448 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref ORDO:2143 semapv:UnspecifiedMatching DOID:0090144 Donnai-Barrow syndrome oboInOwl:hasDbXref UMLS_CUI:C1857277 semapv:UnspecifiedMatching -DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342687 semapv:UnspecifiedMatching -DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ORDO:230 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref GARD:1903 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref MESH:C535600 semapv:UnspecifiedMatching DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref OMIM:223360 semapv:UnspecifiedMatching +DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref ORDO:230 semapv:UnspecifiedMatching +DOID:0090145 dopamine beta-hydroxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342687 semapv:UnspecifiedMatching DOID:0110000 3-methylglutaconic aciduria type 5 oboInOwl:hasDbXref OMIM:610198 semapv:UnspecifiedMatching DOID:0110000 3-methylglutaconic aciduria type 5 oboInOwl:hasDbXref ORDO:66634 semapv:UnspecifiedMatching -DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome oboInOwl:hasDbXref OMIM:614739 semapv:UnspecifiedMatching DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome oboInOwl:hasDbXref ORDO:352328 semapv:UnspecifiedMatching +DOID:0110001 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome oboInOwl:hasDbXref OMIM:614739 semapv:UnspecifiedMatching DOID:0110002 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref MESH:C562801 semapv:UnspecifiedMatching DOID:0110002 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref OMIM:250950 semapv:UnspecifiedMatching DOID:0110002 3-methylglutaconic aciduria type 1 oboInOwl:hasDbXref ORDO:67046 semapv:UnspecifiedMatching @@ -6746,14 +6774,14 @@ DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement DOID:0110003 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia oboInOwl:hasDbXref ORDO:445038 semapv:UnspecifiedMatching DOID:0110004 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref OMIM:258501 semapv:UnspecifiedMatching DOID:0110004 3-methylglutaconic aciduria type 3 oboInOwl:hasDbXref ORDO:67047 semapv:UnspecifiedMatching -DOID:0110005 Leber congenital amaurosis 9 oboInOwl:hasDbXref OMIM:608553 semapv:UnspecifiedMatching DOID:0110005 Leber congenital amaurosis 9 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110005 Leber congenital amaurosis 9 oboInOwl:hasDbXref OMIM:608553 semapv:UnspecifiedMatching DOID:0110006 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref MESH:C565393 semapv:UnspecifiedMatching DOID:0110006 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref OMIM:250951 semapv:UnspecifiedMatching DOID:0110006 3-methylglutaconic aciduria type 4 oboInOwl:hasDbXref ORDO:67048 semapv:UnspecifiedMatching -DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref GARD:9649 semapv:UnspecifiedMatching -DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref MESH:C536128 semapv:UnspecifiedMatching DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref OMIM:216900 semapv:UnspecifiedMatching +DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref MESH:C536128 semapv:UnspecifiedMatching +DOID:0110007 achromatopsia 2 oboInOwl:hasDbXref GARD:9649 semapv:UnspecifiedMatching DOID:0110008 achromatopsia 3 oboInOwl:hasDbXref GARD:9650 semapv:UnspecifiedMatching DOID:0110008 achromatopsia 3 oboInOwl:hasDbXref MESH:C536129 semapv:UnspecifiedMatching DOID:0110008 achromatopsia 3 oboInOwl:hasDbXref OMIM:262300 semapv:UnspecifiedMatching @@ -6782,33 +6810,33 @@ DOID:0110028 age related macular degeneration 5 oboInOwl:hasDbXref OMIM:613761 s DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 oboInOwl:hasDbXref OMIM:141750 semapv:UnspecifiedMatching DOID:0110029 alpha thalassemia-intellectual disability syndrome type 1 oboInOwl:hasDbXref ORDO:98791 semapv:UnspecifiedMatching -DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref GARD:5864 semapv:UnspecifiedMatching -DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ORDO:847 semapv:UnspecifiedMatching +DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref GARD:5864 semapv:UnspecifiedMatching +DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching DOID:0110031 hemoglobin H disease oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching DOID:0110031 hemoglobin H disease oboInOwl:hasDbXref OMIM:613978 semapv:UnspecifiedMatching DOID:0110031 hemoglobin H disease oboInOwl:hasDbXref ORDO:93616 semapv:UnspecifiedMatching DOID:0110032 autosomal dominant Alport syndrome oboInOwl:hasDbXref GARD:624 semapv:UnspecifiedMatching DOID:0110032 autosomal dominant Alport syndrome oboInOwl:hasDbXref OMIM:104200 semapv:UnspecifiedMatching DOID:0110032 autosomal dominant Alport syndrome oboInOwl:hasDbXref ORDO:88918 semapv:UnspecifiedMatching +DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref GARD:625 semapv:UnspecifiedMatching DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref ORDO:88919 semapv:UnspecifiedMatching -DOID:0110033 autosomal recessive Alport syndrome oboInOwl:hasDbXref GARD:625 semapv:UnspecifiedMatching DOID:0110034 X-linked Alport syndrome oboInOwl:hasDbXref OMIM:301050 semapv:UnspecifiedMatching DOID:0110034 X-linked Alport syndrome oboInOwl:hasDbXref ORDO:88917 semapv:UnspecifiedMatching -DOID:0110035 Alzheimer's disease 2 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110035 Alzheimer's disease 2 oboInOwl:hasDbXref OMIM:104310 semapv:UnspecifiedMatching +DOID:0110035 Alzheimer's disease 2 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110036 Alzheimer's disease 16 oboInOwl:hasDbXref OMIM:300756 semapv:UnspecifiedMatching -DOID:0110037 Alzheimer's disease 5 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110037 Alzheimer's disease 5 oboInOwl:hasDbXref OMIM:602096 semapv:UnspecifiedMatching -DOID:0110038 Alzheimer's disease 6 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching +DOID:0110037 Alzheimer's disease 5 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110038 Alzheimer's disease 6 oboInOwl:hasDbXref OMIM:605526 semapv:UnspecifiedMatching +DOID:0110038 Alzheimer's disease 6 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110039 Alzheimer's disease 7 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110039 Alzheimer's disease 7 oboInOwl:hasDbXref OMIM:606187 semapv:UnspecifiedMatching DOID:0110040 Alzheimer's disease 4 oboInOwl:hasDbXref OMIM:606889 semapv:UnspecifiedMatching -DOID:0110041 Alzheimer's disease 8 oboInOwl:hasDbXref OMIM:607116 semapv:UnspecifiedMatching DOID:0110041 Alzheimer's disease 8 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching +DOID:0110041 Alzheimer's disease 8 oboInOwl:hasDbXref OMIM:607116 semapv:UnspecifiedMatching DOID:0110042 Alzheimer's disease 3 oboInOwl:hasDbXref OMIM:607822 semapv:UnspecifiedMatching DOID:0110043 Alzheimer's disease 10 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110043 Alzheimer's disease 10 oboInOwl:hasDbXref OMIM:609636 semapv:UnspecifiedMatching @@ -6818,63 +6846,61 @@ DOID:0110045 Alzheimer's disease 12 oboInOwl:hasDbXref ICD10CM:G30 semapv:Unspec DOID:0110045 Alzheimer's disease 12 oboInOwl:hasDbXref OMIM:611073 semapv:UnspecifiedMatching DOID:0110046 Alzheimer's disease 13 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110046 Alzheimer's disease 13 oboInOwl:hasDbXref OMIM:611152 semapv:UnspecifiedMatching -DOID:0110047 Alzheimer's disease 14 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110047 Alzheimer's disease 14 oboInOwl:hasDbXref OMIM:611154 semapv:UnspecifiedMatching +DOID:0110047 Alzheimer's disease 14 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110048 Alzheimer's disease 15 oboInOwl:hasDbXref GARD:7190 semapv:UnspecifiedMatching DOID:0110048 Alzheimer's disease 15 oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching DOID:0110048 Alzheimer's disease 15 oboInOwl:hasDbXref OMIM:604154 semapv:UnspecifiedMatching DOID:0110049 Alzheimer's disease 17 oboInOwl:hasDbXref OMIM:615080 semapv:UnspecifiedMatching DOID:0110050 Alzheimer's disease 18 oboInOwl:hasDbXref OMIM:615590 semapv:UnspecifiedMatching DOID:0110051 Alzheimer's disease 19 oboInOwl:hasDbXref OMIM:615711 semapv:UnspecifiedMatching -DOID:0110052 amelogenesis imperfecta type 1B oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching DOID:0110052 amelogenesis imperfecta type 1B oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching +DOID:0110052 amelogenesis imperfecta type 1B oboInOwl:hasDbXref OMIM:104500 semapv:UnspecifiedMatching DOID:0110053 amelogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110053 amelogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:104510 semapv:UnspecifiedMatching DOID:0110054 amelogenesis imperfecta type 1A oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110054 amelogenesis imperfecta type 1A oboInOwl:hasDbXref OMIM:104530 semapv:UnspecifiedMatching -DOID:0110055 amelogenesis imperfecta type 3A oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110055 amelogenesis imperfecta type 3A oboInOwl:hasDbXref OMIM:130900 semapv:UnspecifiedMatching -DOID:0110056 amelogenesis imperfecta type 1C oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching +DOID:0110055 amelogenesis imperfecta type 3A oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110056 amelogenesis imperfecta type 1C oboInOwl:hasDbXref OMIM:204650 semapv:UnspecifiedMatching +DOID:0110056 amelogenesis imperfecta type 1C oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110057 amelogenesis imperfecta type 2A1 oboInOwl:hasDbXref GARD:9495 semapv:UnspecifiedMatching DOID:0110057 amelogenesis imperfecta type 2A1 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110057 amelogenesis imperfecta type 2A1 oboInOwl:hasDbXref OMIM:204700 semapv:UnspecifiedMatching DOID:0110058 amelogenesis imperfecta type 1E oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110058 amelogenesis imperfecta type 1E oboInOwl:hasDbXref OMIM:301200 semapv:UnspecifiedMatching -DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching +DOID:0110059 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 oboInOwl:hasDbXref OMIM:301201 semapv:UnspecifiedMatching DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 oboInOwl:hasDbXref OMIM:612529 semapv:UnspecifiedMatching DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110061 amelogenesis imperfecta hypomaturation type 2A3 oboInOwl:hasDbXref OMIM:613211 semapv:UnspecifiedMatching DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110062 amelogenesis imperfecta hypomaturation type 2A4 oboInOwl:hasDbXref OMIM:614832 semapv:UnspecifiedMatching -DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 oboInOwl:hasDbXref OMIM:615887 semapv:UnspecifiedMatching +DOID:0110063 amelogenesis imperfecta hypomaturation type 2A5 oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110064 amelogenesis imperfecta type 1H oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110064 amelogenesis imperfecta type 1H oboInOwl:hasDbXref OMIM:616221 semapv:UnspecifiedMatching DOID:0110065 amelogenesis imperfecta type 1F oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:0110065 amelogenesis imperfecta type 1F oboInOwl:hasDbXref OMIM:616270 semapv:UnspecifiedMatching -DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching +DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching DOID:0110066 amelogenesis imperfecta type 1G oboInOwl:hasDbXref ORDO:1031 semapv:UnspecifiedMatching DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia oboInOwl:hasDbXref OMIM:205200 semapv:UnspecifiedMatching DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 oboInOwl:hasDbXref OMIM:616437 semapv:UnspecifiedMatching DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 oboInOwl:hasDbXref OMIM:616439 semapv:UnspecifiedMatching +DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref MESH:C536932 semapv:UnspecifiedMatching DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref ICD10CM:Q24.8 semapv:UnspecifiedMatching -DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref MESH:C536932 semapv:UnspecifiedMatching DOID:0110070 arrhythmogenic right ventricular dysplasia 1 oboInOwl:hasDbXref OMIM:107970 semapv:UnspecifiedMatching -DOID:0110071 arrhythmogenic right ventricular dysplasia 2 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching -DOID:0110071 arrhythmogenic right ventricular dysplasia 2 oboInOwl:hasDbXref OMIM:600996 semapv:UnspecifiedMatching -DOID:0110072 arrhythmogenic right ventricular dysplasia 3 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110072 arrhythmogenic right ventricular dysplasia 3 oboInOwl:hasDbXref OMIM:602086 semapv:UnspecifiedMatching +DOID:0110072 arrhythmogenic right ventricular dysplasia 3 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110073 arrhythmogenic right ventricular dysplasia 4 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110073 arrhythmogenic right ventricular dysplasia 4 oboInOwl:hasDbXref OMIM:602087 semapv:UnspecifiedMatching DOID:0110074 arrhythmogenic right ventricular dysplasia 5 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110074 arrhythmogenic right ventricular dysplasia 5 oboInOwl:hasDbXref OMIM:604400 semapv:UnspecifiedMatching -DOID:0110075 arrhythmogenic right ventricular dysplasia 6 oboInOwl:hasDbXref OMIM:604401 semapv:UnspecifiedMatching DOID:0110075 arrhythmogenic right ventricular dysplasia 6 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching +DOID:0110075 arrhythmogenic right ventricular dysplasia 6 oboInOwl:hasDbXref OMIM:604401 semapv:UnspecifiedMatching DOID:0110076 arrhythmogenic right ventricular dysplasia 8 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110076 arrhythmogenic right ventricular dysplasia 8 oboInOwl:hasDbXref OMIM:607450 semapv:UnspecifiedMatching DOID:0110077 arrhythmogenic right ventricular dysplasia 9 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching @@ -6883,15 +6909,15 @@ DOID:0110078 Leber congenital amaurosis 1 oboInOwl:hasDbXref ICD10CM:H35.5 semap DOID:0110078 Leber congenital amaurosis 1 oboInOwl:hasDbXref OMIM:204000 semapv:UnspecifiedMatching DOID:0110079 Leber congenital amaurosis 8 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110079 Leber congenital amaurosis 8 oboInOwl:hasDbXref OMIM:613835 semapv:UnspecifiedMatching +DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref OMIM:610612 semapv:UnspecifiedMatching DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref MESH:C565697 semapv:UnspecifiedMatching -DOID:0110080 Leber congenital amaurosis 12 oboInOwl:hasDbXref OMIM:610612 semapv:UnspecifiedMatching DOID:0110081 arrhythmogenic right ventricular dysplasia 10 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110081 arrhythmogenic right ventricular dysplasia 10 oboInOwl:hasDbXref OMIM:610193 semapv:UnspecifiedMatching DOID:0110082 arrhythmogenic right ventricular dysplasia 11 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110082 arrhythmogenic right ventricular dysplasia 11 oboInOwl:hasDbXref OMIM:610476 semapv:UnspecifiedMatching -DOID:0110083 arrhythmogenic right ventricular dysplasia 12 oboInOwl:hasDbXref OMIM:611528 semapv:UnspecifiedMatching DOID:0110083 arrhythmogenic right ventricular dysplasia 12 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching +DOID:0110083 arrhythmogenic right ventricular dysplasia 12 oboInOwl:hasDbXref OMIM:611528 semapv:UnspecifiedMatching DOID:0110084 arrhythmogenic right ventricular dysplasia 13 oboInOwl:hasDbXref ICD10CM:I42.8 semapv:UnspecifiedMatching DOID:0110084 arrhythmogenic right ventricular dysplasia 13 oboInOwl:hasDbXref OMIM:615616 semapv:UnspecifiedMatching DOID:0110085 asphyxiating thoracic dystrophy 1 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching @@ -6899,14 +6925,14 @@ DOID:0110085 asphyxiating thoracic dystrophy 1 oboInOwl:hasDbXref OMIM:208500 se DOID:0110086 asphyxiating thoracic dystrophy 2 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110086 asphyxiating thoracic dystrophy 2 oboInOwl:hasDbXref MESH:C566982 semapv:UnspecifiedMatching DOID:0110086 asphyxiating thoracic dystrophy 2 oboInOwl:hasDbXref OMIM:611263 semapv:UnspecifiedMatching -DOID:0110087 asphyxiating thoracic dystrophy 3 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110087 asphyxiating thoracic dystrophy 3 oboInOwl:hasDbXref OMIM:613091 semapv:UnspecifiedMatching +DOID:0110087 asphyxiating thoracic dystrophy 3 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110088 asphyxiating thoracic dystrophy 4 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110088 asphyxiating thoracic dystrophy 4 oboInOwl:hasDbXref OMIM:613819 semapv:UnspecifiedMatching DOID:0110089 asphyxiating thoracic dystrophy 5 oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110089 asphyxiating thoracic dystrophy 5 oboInOwl:hasDbXref OMIM:614376 semapv:UnspecifiedMatching -DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching +DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly oboInOwl:hasDbXref OMIM:614091 semapv:UnspecifiedMatching DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q87.5 semapv:UnspecifiedMatching DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly oboInOwl:hasDbXref OMIM:615630 semapv:UnspecifiedMatching @@ -6914,14 +6940,14 @@ DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly oboInOwl DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly oboInOwl:hasDbXref OMIM:263520 semapv:UnspecifiedMatching DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly oboInOwl:hasDbXref OMIM:616300 semapv:UnspecifiedMatching -DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly oboInOwl:hasDbXref OMIM:615503 semapv:UnspecifiedMatching +DOID:0110094 short-rib thoracic dysplasia 8 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q77.2 semapv:UnspecifiedMatching DOID:0110095 short-rib thoracic dysplasia 11 with or without polydactyly oboInOwl:hasDbXref OMIM:615633 semapv:UnspecifiedMatching DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly oboInOwl:hasDbXref OMIM:616546 semapv:UnspecifiedMatching -DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly oboInOwl:hasDbXref OMIM:266920 semapv:UnspecifiedMatching DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly oboInOwl:hasDbXref ICD10CM:Q87.5 semapv:UnspecifiedMatching +DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly oboInOwl:hasDbXref OMIM:266920 semapv:UnspecifiedMatching DOID:0110098 atopic dermatitis 2 oboInOwl:hasDbXref OMIM:605803 semapv:UnspecifiedMatching DOID:0110099 atopic dermatitis 3 oboInOwl:hasDbXref OMIM:605804 semapv:UnspecifiedMatching DOID:0110100 atopic dermatitis 4 oboInOwl:hasDbXref OMIM:605805 semapv:UnspecifiedMatching @@ -6932,10 +6958,10 @@ DOID:0110104 atopic dermatitis 8 oboInOwl:hasDbXref OMIM:613518 semapv:Unspecifi DOID:0110105 atopic dermatitis 9 oboInOwl:hasDbXref OMIM:613519 semapv:UnspecifiedMatching DOID:0110106 atrial heart septal defect 1 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching DOID:0110106 atrial heart septal defect 1 oboInOwl:hasDbXref OMIM:108800 semapv:UnspecifiedMatching -DOID:0110107 atrial heart septal defect 2 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching DOID:0110107 atrial heart septal defect 2 oboInOwl:hasDbXref OMIM:607941 semapv:UnspecifiedMatching -DOID:0110108 atrial heart septal defect 3 oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching +DOID:0110107 atrial heart septal defect 2 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching DOID:0110108 atrial heart septal defect 3 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching +DOID:0110108 atrial heart septal defect 3 oboInOwl:hasDbXref OMIM:614089 semapv:UnspecifiedMatching DOID:0110109 atrial heart septal defect 4 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching DOID:0110109 atrial heart septal defect 4 oboInOwl:hasDbXref OMIM:611363 semapv:UnspecifiedMatching DOID:0110110 atrial heart septal defect 5 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching @@ -6949,150 +6975,150 @@ DOID:0110113 atrial heart septal defect 8 oboInOwl:hasDbXref ICD10CM:Q21.1 semap DOID:0110113 atrial heart septal defect 8 oboInOwl:hasDbXref OMIM:614433 semapv:UnspecifiedMatching DOID:0110114 atrial heart septal defect 9 oboInOwl:hasDbXref OMIM:614475 semapv:UnspecifiedMatching DOID:0110114 atrial heart septal defect 9 oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching +DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref MESH:C565833 semapv:UnspecifiedMatching DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref OMIM:603909 semapv:UnspecifiedMatching -DOID:0110115 autoimmune lymphoproliferative syndrome type 2A oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching +DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref ORDO:275517 semapv:UnspecifiedMatching -DOID:0110116 autoimmune lymphoproliferative syndrome type 2B oboInOwl:hasDbXref ICD10CM:D47.9 semapv:UnspecifiedMatching -DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref ORDO:268114 semapv:UnspecifiedMatching DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref ICD10CM:D72.8 semapv:UnspecifiedMatching DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref OMIM:614470 semapv:UnspecifiedMatching +DOID:0110117 autoimmune lymphoproliferative syndrome type 4 oboInOwl:hasDbXref ORDO:268114 semapv:UnspecifiedMatching DOID:0110118 Leber congenital amaurosis 16 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110118 Leber congenital amaurosis 16 oboInOwl:hasDbXref OMIM:614186 semapv:UnspecifiedMatching DOID:0110119 autoimmune lymphoproliferative syndrome type 3 oboInOwl:hasDbXref OMIM:615559 semapv:UnspecifiedMatching -DOID:0110120 Axenfeld-Rieger syndrome type 1 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching DOID:0110120 Axenfeld-Rieger syndrome type 1 oboInOwl:hasDbXref OMIM:180500 semapv:UnspecifiedMatching -DOID:0110121 Axenfeld-Rieger syndrome type 2 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching +DOID:0110120 Axenfeld-Rieger syndrome type 1 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching DOID:0110121 Axenfeld-Rieger syndrome type 2 oboInOwl:hasDbXref OMIM:601499 semapv:UnspecifiedMatching +DOID:0110121 Axenfeld-Rieger syndrome type 2 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching DOID:0110122 Axenfeld-Rieger syndrome type 3 oboInOwl:hasDbXref ICD10CM:Q13.8 semapv:UnspecifiedMatching DOID:0110122 Axenfeld-Rieger syndrome type 3 oboInOwl:hasDbXref OMIM:602482 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref GARD:820 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref MESH:C537909 semapv:UnspecifiedMatching DOID:0110123 Bardet-Biedl syndrome 1 oboInOwl:hasDbXref OMIM:209900 semapv:UnspecifiedMatching -DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref OMIM:615981 semapv:UnspecifiedMatching -DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref MESH:C537910 semapv:UnspecifiedMatching DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref GARD:821 semapv:UnspecifiedMatching DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching +DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref MESH:C537910 semapv:UnspecifiedMatching +DOID:0110124 Bardet-Biedl syndrome 2 oboInOwl:hasDbXref OMIM:615981 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref GARD:822 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref MESH:C537911 semapv:UnspecifiedMatching DOID:0110125 Bardet-Biedl syndrome 3 oboInOwl:hasDbXref OMIM:600151 semapv:UnspecifiedMatching +DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref OMIM:615982 semapv:UnspecifiedMatching +DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref MESH:C537912 semapv:UnspecifiedMatching DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref GARD:823 semapv:UnspecifiedMatching DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref MESH:C537912 semapv:UnspecifiedMatching -DOID:0110126 Bardet-Biedl syndrome 4 oboInOwl:hasDbXref OMIM:615982 semapv:UnspecifiedMatching -DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref OMIM:615983 semapv:UnspecifiedMatching DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref GARD:10204 semapv:UnspecifiedMatching DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref OMIM:605231 semapv:UnspecifiedMatching -DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref MESH:C565738 semapv:UnspecifiedMatching +DOID:0110127 Bardet-Biedl syndrome 5 oboInOwl:hasDbXref OMIM:615983 semapv:UnspecifiedMatching DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref GARD:10205 semapv:UnspecifiedMatching DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching +DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref MESH:C565738 semapv:UnspecifiedMatching +DOID:0110128 Bardet-Biedl syndrome 6 oboInOwl:hasDbXref OMIM:605231 semapv:UnspecifiedMatching +DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref OMIM:615984 semapv:UnspecifiedMatching DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref GARD:10206 semapv:UnspecifiedMatching DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref MESH:C565916 semapv:UnspecifiedMatching -DOID:0110129 Bardet-Biedl syndrome 7 oboInOwl:hasDbXref OMIM:615984 semapv:UnspecifiedMatching -DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref GARD:10207 semapv:UnspecifiedMatching -DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref MESH:C565917 semapv:UnspecifiedMatching DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref OMIM:615985 semapv:UnspecifiedMatching +DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref MESH:C565917 semapv:UnspecifiedMatching +DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching +DOID:0110130 Bardet-Biedl syndrome 8 oboInOwl:hasDbXref GARD:10207 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref GARD:10208 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref MESH:C565918 semapv:UnspecifiedMatching DOID:0110131 Bardet-Biedl syndrome 9 oboInOwl:hasDbXref OMIM:615986 semapv:UnspecifiedMatching -DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref MESH:C565919 semapv:UnspecifiedMatching -DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref OMIM:615987 semapv:UnspecifiedMatching DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref GARD:10209 semapv:UnspecifiedMatching DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching +DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref MESH:C565919 semapv:UnspecifiedMatching +DOID:0110132 Bardet-Biedl syndrome 10 oboInOwl:hasDbXref OMIM:615987 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref GARD:10210 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref MESH:C565920 semapv:UnspecifiedMatching DOID:0110133 Bardet-Biedl syndrome 11 oboInOwl:hasDbXref OMIM:615988 semapv:UnspecifiedMatching -DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref GARD:10211 semapv:UnspecifiedMatching -DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref MESH:C565921 semapv:UnspecifiedMatching DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref OMIM:615989 semapv:UnspecifiedMatching -DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref OMIM:615990 semapv:UnspecifiedMatching +DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref MESH:C565921 semapv:UnspecifiedMatching +DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching +DOID:0110134 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref GARD:10211 semapv:UnspecifiedMatching DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref MESH:C567140 semapv:UnspecifiedMatching +DOID:0110135 Bardet-Biedl syndrome 13 oboInOwl:hasDbXref OMIM:615990 semapv:UnspecifiedMatching +DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref MESH:C567141 semapv:UnspecifiedMatching DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref OMIM:615991 semapv:UnspecifiedMatching -DOID:0110136 Bardet-Biedl syndrome 14 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching -DOID:0110137 Bardet-Biedl syndrome 15 oboInOwl:hasDbXref OMIM:615992 semapv:UnspecifiedMatching DOID:0110137 Bardet-Biedl syndrome 15 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching +DOID:0110137 Bardet-Biedl syndrome 15 oboInOwl:hasDbXref OMIM:615992 semapv:UnspecifiedMatching DOID:0110138 Bardet-Biedl syndrome 16 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110138 Bardet-Biedl syndrome 16 oboInOwl:hasDbXref OMIM:615993 semapv:UnspecifiedMatching DOID:0110139 Bardet-Biedl syndrome 17 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110139 Bardet-Biedl syndrome 17 oboInOwl:hasDbXref OMIM:615994 semapv:UnspecifiedMatching -DOID:0110140 Bardet-Biedl syndrome 18 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110140 Bardet-Biedl syndrome 18 oboInOwl:hasDbXref OMIM:615995 semapv:UnspecifiedMatching +DOID:0110140 Bardet-Biedl syndrome 18 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110141 Bardet-Biedl syndrome 19 oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:0110141 Bardet-Biedl syndrome 19 oboInOwl:hasDbXref OMIM:615996 semapv:UnspecifiedMatching DOID:0110142 Bartter disease type 1 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110142 Bartter disease type 1 oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching DOID:0110143 Bartter disease type 2 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110143 Bartter disease type 2 oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching +DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref GARD:9659 semapv:UnspecifiedMatching DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref OMIM:607364 semapv:UnspecifiedMatching -DOID:0110144 Bartter disease type 3 oboInOwl:hasDbXref GARD:9659 semapv:UnspecifiedMatching DOID:0110145 Bartter disease type 4a oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110145 Bartter disease type 4a oboInOwl:hasDbXref OMIM:602522 semapv:UnspecifiedMatching DOID:0110146 Bartter disease type 4b oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110146 Bartter disease type 4b oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching -DOID:0110147 Bartter disease type 5 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110147 Bartter disease type 5 oboInOwl:hasDbXref OMIM:300971 semapv:UnspecifiedMatching +DOID:0110147 Bartter disease type 5 oboInOwl:hasDbXref ICD10CM:E26.8 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref GARD:1245 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref OMIM:118220 semapv:UnspecifiedMatching DOID:0110148 Charcot-Marie-Tooth disease type 1A oboInOwl:hasDbXref ORDO:101081 semapv:UnspecifiedMatching -DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ORDO:101085 semapv:UnspecifiedMatching DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref OMIM:607734 semapv:UnspecifiedMatching -DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 semapv:UnspecifiedMatching -DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ORDO:101084 semapv:UnspecifiedMatching +DOID:0110149 Charcot-Marie-Tooth disease type 1F oboInOwl:hasDbXref ORDO:101085 semapv:UnspecifiedMatching DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref MESH:C537985 semapv:UnspecifiedMatching +DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref OMIM:607678 semapv:UnspecifiedMatching +DOID:0110150 Charcot-Marie-Tooth disease type 1D oboInOwl:hasDbXref ORDO:101084 semapv:UnspecifiedMatching +DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 semapv:UnspecifiedMatching DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref MESH:C537984 semapv:UnspecifiedMatching -DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref OMIM:601098 semapv:UnspecifiedMatching DOID:0110151 Charcot-Marie-Tooth disease type 1C oboInOwl:hasDbXref ORDO:101083 semapv:UnspecifiedMatching -DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 semapv:UnspecifiedMatching DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ORDO:101082 semapv:UnspecifiedMatching +DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref OMIM:118200 semapv:UnspecifiedMatching +DOID:0110152 Charcot-Marie-Tooth disease type 1B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref GARD:9190 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref OMIM:118300 semapv:UnspecifiedMatching DOID:0110153 Charcot-Marie-Tooth disease type 1E oboInOwl:hasDbXref ORDO:90658 semapv:UnspecifiedMatching -DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ORDO:99946 semapv:UnspecifiedMatching DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref OMIM:118210 semapv:UnspecifiedMatching -DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref ORDO:99947 semapv:UnspecifiedMatching +DOID:0110154 Charcot-Marie-Tooth disease type 2A1 oboInOwl:hasDbXref ORDO:99946 semapv:UnspecifiedMatching DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref OMIM:609260 semapv:UnspecifiedMatching +DOID:0110155 Charcot-Marie-Tooth disease type 2A2A oboInOwl:hasDbXref ORDO:99947 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537990 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 semapv:UnspecifiedMatching DOID:0110156 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref ORDO:98856 semapv:UnspecifiedMatching +DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ORDO:99943 semapv:UnspecifiedMatching DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref OMIM:607736 semapv:UnspecifiedMatching -DOID:0110157 Charcot-Marie-Tooth disease type 2J oboInOwl:hasDbXref ORDO:99943 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref MESH:C535416 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref OMIM:607677 semapv:UnspecifiedMatching DOID:0110158 Charcot-Marie-Tooth disease type 2I oboInOwl:hasDbXref ORDO:99942 semapv:UnspecifiedMatching +DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref GARD:9192 semapv:UnspecifiedMatching +DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching +DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref MESH:C537989 semapv:UnspecifiedMatching DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref OMIM:600882 semapv:UnspecifiedMatching DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ORDO:99936 semapv:UnspecifiedMatching -DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref MESH:C537989 semapv:UnspecifiedMatching -DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110159 Charcot-Marie-Tooth disease type 2B oboInOwl:hasDbXref GARD:9192 semapv:UnspecifiedMatching +DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref ORDO:443950 semapv:UnspecifiedMatching DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref OMIM:617017 semapv:UnspecifiedMatching -DOID:0110160 Charcot-Marie-Tooth disease axonal type 2T oboInOwl:hasDbXref ORDO:443950 semapv:UnspecifiedMatching -DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 semapv:UnspecifiedMatching DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ORDO:397968 semapv:UnspecifiedMatching +DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref OMIM:615490 semapv:UnspecifiedMatching +DOID:0110161 Charcot-Marie-Tooth disease type 2R oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110162 Charcot-Marie-Tooth disease, axonal type 2W oboInOwl:hasDbXref OMIM:616625 semapv:UnspecifiedMatching DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F oboInOwl:hasDbXref OMIM:606595 semapv:UnspecifiedMatching @@ -7100,15 +7126,15 @@ DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F oboInOwl:hasDbXref ORDO: DOID:0110164 Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110164 Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref OMIM:601472 semapv:UnspecifiedMatching DOID:0110164 Charcot-Marie-Tooth disease type 2D oboInOwl:hasDbXref ORDO:99938 semapv:UnspecifiedMatching -DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ORDO:99939 semapv:UnspecifiedMatching -DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 semapv:UnspecifiedMatching DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching +DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref OMIM:607684 semapv:UnspecifiedMatching +DOID:0110165 Charcot-Marie-Tooth disease type 2E oboInOwl:hasDbXref ORDO:99939 semapv:UnspecifiedMatching DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H oboInOwl:hasDbXref OMIM:607731 semapv:UnspecifiedMatching DOID:0110166 Charcot-Marie-Tooth disease axonal type 2H oboInOwl:hasDbXref ORDO:101102 semapv:UnspecifiedMatching +DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref ORDO:101097 semapv:UnspecifiedMatching DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref OMIM:607831 semapv:UnspecifiedMatching -DOID:0110167 Charcot-Marie-Tooth disease axonal type 2K oboInOwl:hasDbXref ORDO:101097 semapv:UnspecifiedMatching DOID:0110168 Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110168 Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref OMIM:616687 semapv:UnspecifiedMatching DOID:0110168 Charcot-Marie-Tooth disease type 2Y oboInOwl:hasDbXref ORDO:435387 semapv:UnspecifiedMatching @@ -7116,119 +7142,119 @@ DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref GARD: DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref OMIM:614436 semapv:UnspecifiedMatching DOID:0110169 Charcot-Marie-Tooth disease axonal type 2P oboInOwl:hasDbXref ORDO:300319 semapv:UnspecifiedMatching -DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref ORDO:329258 semapv:UnspecifiedMatching DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref OMIM:615025 semapv:UnspecifiedMatching -DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S oboInOwl:hasDbXref OMIM:616155 semapv:UnspecifiedMatching +DOID:0110170 Charcot-Marie-Tooth disease axonal type 2Q oboInOwl:hasDbXref ORDO:329258 semapv:UnspecifiedMatching DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S oboInOwl:hasDbXref ORDO:443073 semapv:UnspecifiedMatching -DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref OMIM:616280 semapv:UnspecifiedMatching +DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S oboInOwl:hasDbXref OMIM:616155 semapv:UnspecifiedMatching DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref ORDO:397735 semapv:UnspecifiedMatching +DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref OMIM:616280 semapv:UnspecifiedMatching +DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L oboInOwl:hasDbXref OMIM:608673 semapv:UnspecifiedMatching DOID:0110174 Charcot-Marie-Tooth disease axonal type 2L oboInOwl:hasDbXref ORDO:99945 semapv:UnspecifiedMatching DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O oboInOwl:hasDbXref OMIM:614228 semapv:UnspecifiedMatching DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O oboInOwl:hasDbXref ORDO:284232 semapv:UnspecifiedMatching -DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X oboInOwl:hasDbXref ORDO:466775 semapv:UnspecifiedMatching DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X oboInOwl:hasDbXref OMIM:616668 semapv:UnspecifiedMatching -DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref ORDO:228174 semapv:UnspecifiedMatching +DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X oboInOwl:hasDbXref ORDO:466775 semapv:UnspecifiedMatching DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref OMIM:613287 semapv:UnspecifiedMatching +DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N oboInOwl:hasDbXref ORDO:228174 semapv:UnspecifiedMatching DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V oboInOwl:hasDbXref OMIM:616491 semapv:UnspecifiedMatching DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V oboInOwl:hasDbXref ORDO:447964 semapv:UnspecifiedMatching -DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 semapv:UnspecifiedMatching -DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 semapv:UnspecifiedMatching DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ORDO:101101 semapv:UnspecifiedMatching +DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref OMIM:605589 semapv:UnspecifiedMatching +DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref MESH:C537991 semapv:UnspecifiedMatching +DOID:0110179 Charcot-Marie-Tooth disease type 2B2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110180 Charcot-Marie-Tooth disease axonal type 2CC oboInOwl:hasDbXref OMIM:616924 semapv:UnspecifiedMatching -DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z oboInOwl:hasDbXref ORDO:466768 semapv:UnspecifiedMatching DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z oboInOwl:hasDbXref OMIM:616688 semapv:UnspecifiedMatching +DOID:0110181 Charcot-Marie-Tooth disease axonal type 2Z oboInOwl:hasDbXref ORDO:466768 semapv:UnspecifiedMatching +DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref OMIM:606071 semapv:UnspecifiedMatching DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref ORDO:99937 semapv:UnspecifiedMatching -DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ORDO:99949 semapv:UnspecifiedMatching DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref OMIM:601596 semapv:UnspecifiedMatching +DOID:0110183 Charcot-Marie-Tooth disease type 4C oboInOwl:hasDbXref ORDO:99949 semapv:UnspecifiedMatching DOID:0110184 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110184 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref OMIM:611228 semapv:UnspecifiedMatching DOID:0110184 Charcot-Marie-Tooth disease type 4J oboInOwl:hasDbXref ORDO:139515 semapv:UnspecifiedMatching +DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ORDO:99948 semapv:UnspecifiedMatching +DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 semapv:UnspecifiedMatching DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref MESH:C535419 semapv:UnspecifiedMatching -DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref OMIM:214400 semapv:UnspecifiedMatching -DOID:0110185 Charcot-Marie-Tooth disease type 4A oboInOwl:hasDbXref ORDO:99948 semapv:UnspecifiedMatching DOID:0110186 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110186 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref OMIM:601455 semapv:UnspecifiedMatching DOID:0110186 Charcot-Marie-Tooth disease type 4D oboInOwl:hasDbXref ORDO:99950 semapv:UnspecifiedMatching DOID:0110187 Charcot-Marie-Tooth disease type 4K oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110187 Charcot-Marie-Tooth disease type 4K oboInOwl:hasDbXref OMIM:616684 semapv:UnspecifiedMatching DOID:0110187 Charcot-Marie-Tooth disease type 4K oboInOwl:hasDbXref ORDO:391351 semapv:UnspecifiedMatching -DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref MESH:C567636 semapv:UnspecifiedMatching +DOID:0110188 Leber congenital amaurosis 14 oboInOwl:hasDbXref OMIM:613341 semapv:UnspecifiedMatching DOID:0110189 Leber congenital amaurosis 15 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110189 Leber congenital amaurosis 15 oboInOwl:hasDbXref OMIM:613843 semapv:UnspecifiedMatching -DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref GARD:9200 semapv:UnspecifiedMatching DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 semapv:UnspecifiedMatching -DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 semapv:UnspecifiedMatching DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref ORDO:99956 semapv:UnspecifiedMatching -DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ORDO:99955 semapv:UnspecifiedMatching +DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref OMIM:604563 semapv:UnspecifiedMatching +DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref GARD:9200 semapv:UnspecifiedMatching +DOID:0110190 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref MESH:C535421 semapv:UnspecifiedMatching DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref MESH:C535420 semapv:UnspecifiedMatching DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref OMIM:601382 semapv:UnspecifiedMatching +DOID:0110191 Charcot-Marie-Tooth disease type 4B1 oboInOwl:hasDbXref ORDO:99955 semapv:UnspecifiedMatching DOID:0110192 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ORDO:99954 semapv:UnspecifiedMatching DOID:0110192 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110192 Charcot-Marie-Tooth disease type 4H oboInOwl:hasDbXref OMIM:609311 semapv:UnspecifiedMatching -DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref OMIM:614895 semapv:UnspecifiedMatching DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ORDO:99952 semapv:UnspecifiedMatching -DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching +DOID:0110193 Charcot-Marie-Tooth disease type 4F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref OMIM:615284 semapv:UnspecifiedMatching DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ORDO:363981 semapv:UnspecifiedMatching -DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching +DOID:0110194 Charcot-Marie-Tooth disease type 4B3 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref OMIM:605253 semapv:UnspecifiedMatching DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ORDO:99951 semapv:UnspecifiedMatching +DOID:0110195 Charcot-Marie-Tooth disease type 4E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ORDO:99953 semapv:UnspecifiedMatching -DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref OMIM:605285 semapv:UnspecifiedMatching -DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref ORDO:100044 semapv:UnspecifiedMatching -DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching +DOID:0110196 Charcot-Marie-Tooth disease type 4G oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref MESH:C564703 semapv:UnspecifiedMatching +DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref OMIM:606482 semapv:UnspecifiedMatching +DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B oboInOwl:hasDbXref ORDO:100044 semapv:UnspecifiedMatching DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C oboInOwl:hasDbXref OMIM:615376 semapv:UnspecifiedMatching DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C oboInOwl:hasDbXref ORDO:369867 semapv:UnspecifiedMatching -DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref ORDO:100045 semapv:UnspecifiedMatching DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref MESH:C564257 semapv:UnspecifiedMatching DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref OMIM:608323 semapv:UnspecifiedMatching -DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref MESH:C564333 semapv:UnspecifiedMatching +DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C oboInOwl:hasDbXref ORDO:100045 semapv:UnspecifiedMatching +DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref ORDO:100046 semapv:UnspecifiedMatching DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref OMIM:607791 semapv:UnspecifiedMatching DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref ORDO:100046 semapv:UnspecifiedMatching -DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching +DOID:0110200 Charcot-Marie-Tooth disease dominant intermediate D oboInOwl:hasDbXref MESH:C564333 semapv:UnspecifiedMatching DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref MESH:C564256 semapv:UnspecifiedMatching +DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching DOID:0110201 Charcot-Marie-Tooth disease recessive intermediate A oboInOwl:hasDbXref ORDO:217055 semapv:UnspecifiedMatching -DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref ORDO:100043 semapv:UnspecifiedMatching -DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref OMIM:606483 semapv:UnspecifiedMatching DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref MESH:C564702 semapv:UnspecifiedMatching +DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref OMIM:606483 semapv:UnspecifiedMatching +DOID:0110202 Charcot-Marie-Tooth disease dominant intermediate A oboInOwl:hasDbXref ORDO:100043 semapv:UnspecifiedMatching DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D oboInOwl:hasDbXref OMIM:616039 semapv:UnspecifiedMatching DOID:0110203 Charcot-Marie-Tooth disease recessive intermediate D oboInOwl:hasDbXref ORDO:435998 semapv:UnspecifiedMatching +DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref ORDO:254334 semapv:UnspecifiedMatching DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref OMIM:613641 semapv:UnspecifiedMatching -DOID:0110204 Charcot-Marie-Tooth disease recessive intermediate B oboInOwl:hasDbXref ORDO:254334 semapv:UnspecifiedMatching -DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref OMIM:614455 semapv:UnspecifiedMatching DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref ORDO:93114 semapv:UnspecifiedMatching +DOID:0110205 Charcot-Marie-Tooth disease dominant intermediate E oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F oboInOwl:hasDbXref OMIM:615185 semapv:UnspecifiedMatching DOID:0110206 Charcot-Marie-Tooth disease dominant intermediate F oboInOwl:hasDbXref ORDO:352670 semapv:UnspecifiedMatching +DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref OMIM:300905 semapv:UnspecifiedMatching DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref ORDO:352675 semapv:UnspecifiedMatching -DOID:0110207 Charcot-Marie-Tooth disease X-linked dominant 6 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref MESH:C535302 semapv:UnspecifiedMatching DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref OMIM:302801 semapv:UnspecifiedMatching @@ -7236,16 +7262,16 @@ DOID:0110208 Charcot-Marie-Tooth disease X-linked recessive 2 oboInOwl:hasDbXref DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 oboInOwl:hasDbXref OMIM:302800 semapv:UnspecifiedMatching DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 oboInOwl:hasDbXref ORDO:101075 semapv:UnspecifiedMatching -DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching -DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref OMIM:311070 semapv:UnspecifiedMatching DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref ORDO:99014 semapv:UnspecifiedMatching -DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref ORDO:101077 semapv:UnspecifiedMatching +DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref OMIM:311070 semapv:UnspecifiedMatching +DOID:0110210 Charcot-Marie-Tooth disease X-linked recessive 5 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref MESH:C535303 semapv:UnspecifiedMatching DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref OMIM:302802 semapv:UnspecifiedMatching -DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref ORDO:101078 semapv:UnspecifiedMatching +DOID:0110211 Charcot-Marie-Tooth disease X-linked recessive 3 oboInOwl:hasDbXref ORDO:101077 semapv:UnspecifiedMatching DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref OMIM:310490 semapv:UnspecifiedMatching +DOID:0110212 Charcot-Marie-Tooth disease X-linked recessive 4 oboInOwl:hasDbXref ORDO:101078 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.1 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.3 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.5 semapv:UnspecifiedMatching @@ -7253,61 +7279,61 @@ DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.7 semapv:Unspe DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ICD10CM:Q35.9 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref OMIM:119540 semapv:UnspecifiedMatching DOID:0110213 isolated cleft palate oboInOwl:hasDbXref ORDO:2014 semapv:UnspecifiedMatching -DOID:0110214 cleft soft palate oboInOwl:hasDbXref ICD10CM:Q35.3 semapv:UnspecifiedMatching -DOID:0110214 cleft soft palate oboInOwl:hasDbXref MESH:C562950 semapv:UnspecifiedMatching -DOID:0110214 cleft soft palate oboInOwl:hasDbXref OMIM:119570 semapv:UnspecifiedMatching DOID:0110214 cleft soft palate oboInOwl:hasDbXref ORDO:99772 semapv:UnspecifiedMatching +DOID:0110214 cleft soft palate oboInOwl:hasDbXref OMIM:119570 semapv:UnspecifiedMatching +DOID:0110214 cleft soft palate oboInOwl:hasDbXref MESH:C562950 semapv:UnspecifiedMatching +DOID:0110214 cleft soft palate oboInOwl:hasDbXref ICD10CM:Q35.3 semapv:UnspecifiedMatching DOID:0110215 Leber congenital amaurosis 5 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110215 Leber congenital amaurosis 5 oboInOwl:hasDbXref OMIM:604537 semapv:UnspecifiedMatching -DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref OMIM:613837 semapv:UnspecifiedMatching DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref MESH:C564140 semapv:UnspecifiedMatching +DOID:0110216 Leber congenital amaurosis 11 oboInOwl:hasDbXref OMIM:613837 semapv:UnspecifiedMatching DOID:0110217 Leber congenital amaurosis 17 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110217 Leber congenital amaurosis 17 oboInOwl:hasDbXref OMIM:615360 semapv:UnspecifiedMatching DOID:0110218 Brugada syndrome 1 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110218 Brugada syndrome 1 oboInOwl:hasDbXref OMIM:601144 semapv:UnspecifiedMatching -DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref OMIM:611777 semapv:UnspecifiedMatching DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref MESH:C567087 semapv:UnspecifiedMatching -DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref MESH:C567509 semapv:UnspecifiedMatching +DOID:0110219 Brugada syndrome 2 oboInOwl:hasDbXref OMIM:611777 semapv:UnspecifiedMatching DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref OMIM:611875 semapv:UnspecifiedMatching +DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref MESH:C567509 semapv:UnspecifiedMatching DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref GARD:10361 semapv:UnspecifiedMatching DOID:0110220 Brugada syndrome 3 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching -DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref OMIM:611876 semapv:UnspecifiedMatching -DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref MESH:C567508 semapv:UnspecifiedMatching -DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref GARD:10362 semapv:UnspecifiedMatching +DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching +DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref MESH:C567508 semapv:UnspecifiedMatching +DOID:0110221 Brugada syndrome 4 oboInOwl:hasDbXref OMIM:611876 semapv:UnspecifiedMatching DOID:0110222 Brugada syndrome 5 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110222 Brugada syndrome 5 oboInOwl:hasDbXref MESH:C567556 semapv:UnspecifiedMatching DOID:0110222 Brugada syndrome 5 oboInOwl:hasDbXref OMIM:612838 semapv:UnspecifiedMatching DOID:0110223 Brugada syndrome 6 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110223 Brugada syndrome 6 oboInOwl:hasDbXref MESH:C567735 semapv:UnspecifiedMatching DOID:0110223 Brugada syndrome 6 oboInOwl:hasDbXref OMIM:613119 semapv:UnspecifiedMatching +DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref MESH:C567734 semapv:UnspecifiedMatching -DOID:0110224 Brugada syndrome 7 oboInOwl:hasDbXref OMIM:613120 semapv:UnspecifiedMatching +DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref OMIM:613123 semapv:UnspecifiedMatching DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref MESH:C567732 semapv:UnspecifiedMatching -DOID:0110225 Brugada syndrome 8 oboInOwl:hasDbXref OMIM:613123 semapv:UnspecifiedMatching -DOID:0110226 Brugada syndrome 9 oboInOwl:hasDbXref OMIM:616399 semapv:UnspecifiedMatching DOID:0110226 Brugada syndrome 9 oboInOwl:hasDbXref ICD10CM:I49.8 semapv:UnspecifiedMatching +DOID:0110226 Brugada syndrome 9 oboInOwl:hasDbXref OMIM:616399 semapv:UnspecifiedMatching DOID:0110227 cataract 32 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110227 cataract 32 multiple types oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching DOID:0110228 cataract 8 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110228 cataract 8 multiple types oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching DOID:0110229 cataract 6 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110229 cataract 6 multiple types oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching -DOID:0110230 cataract 34 multiple types oboInOwl:hasDbXref OMIM:612968 semapv:UnspecifiedMatching DOID:0110230 cataract 34 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110230 cataract 34 multiple types oboInOwl:hasDbXref OMIM:612968 semapv:UnspecifiedMatching DOID:0110231 cataract 1 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110231 cataract 1 multiple types oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching -DOID:0110232 cataract 29 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110232 cataract 29 oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching DOID:0110232 cataract 29 oboInOwl:hasDbXref ORDO:98990 semapv:UnspecifiedMatching -DOID:0110233 cataract 27 oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching +DOID:0110232 cataract 29 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110233 cataract 27 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110234 cataract 4 multiple types oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching +DOID:0110233 cataract 27 oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching DOID:0110234 cataract 4 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110234 cataract 4 multiple types oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching DOID:0110235 cataract 2 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110235 cataract 2 multiple types oboInOwl:hasDbXref OMIM:604307 semapv:UnspecifiedMatching DOID:0110236 cataract 39 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching @@ -7318,12 +7344,12 @@ DOID:0110238 cataract 18 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatc DOID:0110238 cataract 18 oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching DOID:0110239 cataract 12 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110239 cataract 12 multiple types oboInOwl:hasDbXref OMIM:611597 semapv:UnspecifiedMatching -DOID:0110240 cataract 20 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110240 cataract 20 multiple types oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching +DOID:0110240 cataract 20 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110241 cataract 41 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110241 cataract 41 oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -DOID:0110242 cataract 13 with adult i phenotype oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching DOID:0110242 cataract 13 with adult i phenotype oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110242 cataract 13 with adult i phenotype oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching DOID:0110243 cataract 46 juvenile-onset oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110243 cataract 46 juvenile-onset oboInOwl:hasDbXref OMIM:212500 semapv:UnspecifiedMatching DOID:0110244 cataract 28 oboInOwl:hasDbXref OMIM:609026 semapv:UnspecifiedMatching @@ -7332,15 +7358,15 @@ DOID:0110245 cataract 38 oboInOwl:hasDbXref OMIM:614691 semapv:UnspecifiedMatchi DOID:0110246 cataract 26 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110246 cataract 26 multiple types oboInOwl:hasDbXref OMIM:605749 semapv:UnspecifiedMatching DOID:0110247 cataract 36 oboInOwl:hasDbXref OMIM:613887 semapv:UnspecifiedMatching -DOID:0110248 cataract 30 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110248 cataract 30 oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching DOID:0110248 cataract 30 oboInOwl:hasDbXref ORDO:98984 semapv:UnspecifiedMatching +DOID:0110248 cataract 30 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110249 cataract 11 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110249 cataract 11 multiple types oboInOwl:hasDbXref OMIM:610623 semapv:UnspecifiedMatching DOID:0110250 cataract 16 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110250 cataract 16 multiple types oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -DOID:0110251 cataract 15 multiple types oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching DOID:0110251 cataract 15 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110251 cataract 15 multiple types oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching DOID:0110252 cataract 37 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110252 cataract 37 oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching DOID:0110253 cataract 14 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching @@ -7348,49 +7374,49 @@ DOID:0110253 cataract 14 multiple types oboInOwl:hasDbXref OMIM:601885 semapv:Un DOID:0110254 cataract 25 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110254 cataract 25 oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching DOID:0110254 cataract 25 oboInOwl:hasDbXref ORDO:98985 semapv:UnspecifiedMatching -DOID:0110255 cataract 5 multiple types oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching DOID:0110255 cataract 5 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching -DOID:0110256 cataract 21 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110255 cataract 5 multiple types oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching DOID:0110256 cataract 21 multiple types oboInOwl:hasDbXref OMIM:610202 semapv:UnspecifiedMatching +DOID:0110256 cataract 21 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110257 cataract 24 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110257 cataract 24 oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching DOID:0110258 cataract 10 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110258 cataract 10 multiple types oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -DOID:0110259 cataract 43 oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching DOID:0110259 cataract 43 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110259 cataract 43 oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching DOID:0110260 cataract 7 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110260 cataract 7 oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching DOID:0110261 cataract 35 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110261 cataract 35 oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching DOID:0110262 cataract 45 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110262 cataract 45 oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching -DOID:0110263 cataract 19 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110263 cataract 19 multiple types oboInOwl:hasDbXref OMIM:615277 semapv:UnspecifiedMatching -DOID:0110264 cataract 33 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110263 cataract 19 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110264 cataract 33 oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching +DOID:0110264 cataract 33 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110265 cataract 31 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110265 cataract 31 multiple types oboInOwl:hasDbXref OMIM:605387 semapv:UnspecifiedMatching DOID:0110266 cataract 9 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110266 cataract 9 multiple types oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching -DOID:0110267 cataract 44 oboInOwl:hasDbXref ORDO:98994 semapv:UnspecifiedMatching DOID:0110267 cataract 44 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110267 cataract 44 oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching +DOID:0110267 cataract 44 oboInOwl:hasDbXref ORDO:98994 semapv:UnspecifiedMatching DOID:0110268 cataract 22 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110268 cataract 22 multiple types oboInOwl:hasDbXref OMIM:609741 semapv:UnspecifiedMatching DOID:0110269 cataract 3 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110269 cataract 3 multiple types oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching DOID:0110270 cataract 17 multiple types oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110270 cataract 17 multiple types oboInOwl:hasDbXref OMIM:611544 semapv:UnspecifiedMatching -DOID:0110271 cataract 23 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110271 cataract 23 oboInOwl:hasDbXref OMIM:610425 semapv:UnspecifiedMatching -DOID:0110272 cataract 40 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching +DOID:0110271 cataract 23 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110272 cataract 40 oboInOwl:hasDbXref OMIM:302200 semapv:UnspecifiedMatching -DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:102014 semapv:UnspecifiedMatching +DOID:0110272 cataract 40 oboInOwl:hasDbXref ICD10CM:Q12.0 semapv:UnspecifiedMatching DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIMPS:603511 semapv:UnspecifiedMatching -DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:102015 semapv:UnspecifiedMatching -DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIMPS:253600 semapv:UnspecifiedMatching +DOID:0110273 autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:102014 semapv:UnspecifiedMatching DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching +DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref OMIMPS:253600 semapv:UnspecifiedMatching +DOID:0110274 autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref ORDO:102015 semapv:UnspecifiedMatching DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref GARD:3845 semapv:UnspecifiedMatching DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl:hasDbXref OMIM:253600 semapv:UnspecifiedMatching @@ -7398,58 +7424,58 @@ DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A oboInOwl DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B oboInOwl:hasDbXref OMIM:253601 semapv:UnspecifiedMatching DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B oboInOwl:hasDbXref ORDO:268 semapv:UnspecifiedMatching +DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref ORDO:353 semapv:UnspecifiedMatching DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref OMIM:253700 semapv:UnspecifiedMatching DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C oboInOwl:hasDbXref ORDO:353 semapv:UnspecifiedMatching -DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref ORDO:62 semapv:UnspecifiedMatching DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref OMIM:608099 semapv:UnspecifiedMatching -DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref ORDO:119 semapv:UnspecifiedMatching +DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D oboInOwl:hasDbXref ORDO:62 semapv:UnspecifiedMatching DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref OMIM:604286 semapv:UnspecifiedMatching +DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E oboInOwl:hasDbXref ORDO:119 semapv:UnspecifiedMatching DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F oboInOwl:hasDbXref OMIM:601287 semapv:UnspecifiedMatching DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F oboInOwl:hasDbXref ORDO:219 semapv:UnspecifiedMatching DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G oboInOwl:hasDbXref OMIM:601954 semapv:UnspecifiedMatching DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G oboInOwl:hasDbXref ORDO:34514 semapv:UnspecifiedMatching -DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref OMIM:254110 semapv:UnspecifiedMatching DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref ORDO:1878 semapv:UnspecifiedMatching +DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref OMIM:254110 semapv:UnspecifiedMatching +DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J oboInOwl:hasDbXref OMIM:608807 semapv:UnspecifiedMatching DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J oboInOwl:hasDbXref ORDO:140922 semapv:UnspecifiedMatching -DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref ORDO:206549 semapv:UnspecifiedMatching -DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref OMIM:611307 semapv:UnspecifiedMatching DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching +DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref OMIM:611307 semapv:UnspecifiedMatching +DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L oboInOwl:hasDbXref ORDO:206549 semapv:UnspecifiedMatching DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q oboInOwl:hasDbXref OMIM:613723 semapv:UnspecifiedMatching DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q oboInOwl:hasDbXref ORDO:254361 semapv:UnspecifiedMatching DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S oboInOwl:hasDbXref ORDO:369840 semapv:UnspecifiedMatching -DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W oboInOwl:hasDbXref OMIM:616827 semapv:UnspecifiedMatching DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W oboInOwl:hasDbXref ORDO:466801 semapv:UnspecifiedMatching +DOID:0110288 autosomal recessive limb-girdle muscular dystrophy type 2W oboInOwl:hasDbXref OMIM:616827 semapv:UnspecifiedMatching DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y oboInOwl:hasDbXref OMIM:617072 semapv:UnspecifiedMatching DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y oboInOwl:hasDbXref ORDO:424261 semapv:UnspecifiedMatching DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X oboInOwl:hasDbXref OMIM:616812 semapv:UnspecifiedMatching DOID:0110290 autosomal recessive limb-girdle muscular dystrophy type 2X oboInOwl:hasDbXref ORDO:476084 semapv:UnspecifiedMatching -DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref OMIM:611755 semapv:UnspecifiedMatching DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref MESH:C565720 semapv:UnspecifiedMatching +DOID:0110291 Leber congenital amaurosis 10 oboInOwl:hasDbXref OMIM:611755 semapv:UnspecifiedMatching DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O oboInOwl:hasDbXref OMIM:613157 semapv:UnspecifiedMatching DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O oboInOwl:hasDbXref ORDO:206564 semapv:UnspecifiedMatching +DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref ORDO:280333 semapv:UnspecifiedMatching DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref OMIM:613818 semapv:UnspecifiedMatching -DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P oboInOwl:hasDbXref ORDO:280333 semapv:UnspecifiedMatching -DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref OMIM:615352 semapv:UnspecifiedMatching DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref ORDO:363623 semapv:UnspecifiedMatching +DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref ORDO:352479 semapv:UnspecifiedMatching -DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching +DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M oboInOwl:hasDbXref OMIM:611588 semapv:UnspecifiedMatching DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M oboInOwl:hasDbXref ORDO:206554 semapv:UnspecifiedMatching @@ -7459,18 +7485,18 @@ DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K oboInOwl DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N oboInOwl:hasDbXref OMIM:613158 semapv:UnspecifiedMatching DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N oboInOwl:hasDbXref ORDO:206559 semapv:UnspecifiedMatching +DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref OMIM:607155 semapv:UnspecifiedMatching DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref ORDO:34515 semapv:UnspecifiedMatching -DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref OMIM:613530 semapv:UnspecifiedMatching DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref ORDO:238755 semapv:UnspecifiedMatching +DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref OMIM:613530 semapv:UnspecifiedMatching DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching +DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref OMIM:608423 semapv:UnspecifiedMatching DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref ORDO:55595 semapv:UnspecifiedMatching -DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching -DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref ORDO:34517 semapv:UnspecifiedMatching DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref OMIM:603511 semapv:UnspecifiedMatching +DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 oboInOwl:hasDbXref ORDO:34517 semapv:UnspecifiedMatching DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 oboInOwl:hasDbXref OMIM:609115 semapv:UnspecifiedMatching DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3 oboInOwl:hasDbXref ORDO:55596 semapv:UnspecifiedMatching @@ -7495,31 +7521,31 @@ DOID:0110324 hypertrophic cardiomyopathy 18 oboInOwl:hasDbXref OMIM:613874 semap DOID:0110326 hypertrophic cardiomyopathy 20 oboInOwl:hasDbXref OMIM:613876 semapv:UnspecifiedMatching DOID:0110327 hypertrophic cardiomyopathy 26 oboInOwl:hasDbXref OMIM:617047 semapv:UnspecifiedMatching DOID:0110328 hypertrophic cardiomyopathy 25 oboInOwl:hasDbXref OMIM:607487 semapv:UnspecifiedMatching +DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref OMIM:613826 semapv:UnspecifiedMatching DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref MESH:C565327 semapv:UnspecifiedMatching -DOID:0110329 Leber congenital amaurosis 6 oboInOwl:hasDbXref OMIM:613826 semapv:UnspecifiedMatching DOID:0110330 Leber congenital amaurosis 13 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110330 Leber congenital amaurosis 13 oboInOwl:hasDbXref MESH:C567197 semapv:UnspecifiedMatching DOID:0110330 Leber congenital amaurosis 13 oboInOwl:hasDbXref OMIM:612712 semapv:UnspecifiedMatching -DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref MESH:C565814 semapv:UnspecifiedMatching +DOID:0110331 Leber congenital amaurosis 3 oboInOwl:hasDbXref OMIM:604232 semapv:UnspecifiedMatching DOID:0110332 Leber congenital amaurosis 4 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110332 Leber congenital amaurosis 4 oboInOwl:hasDbXref MESH:C565778 semapv:UnspecifiedMatching DOID:0110332 Leber congenital amaurosis 4 oboInOwl:hasDbXref OMIM:604393 semapv:UnspecifiedMatching DOID:0110333 Leber congenital amaurosis 7 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110333 Leber congenital amaurosis 7 oboInOwl:hasDbXref OMIM:613829 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref GARD:8694 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref NCI:C99003 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching -DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref ORDO:216796 semapv:UnspecifiedMatching DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref UMLS_CUI:C0023931 semapv:UnspecifiedMatching -DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching +DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref ORDO:216796 semapv:UnspecifiedMatching +DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref OMIM:166200 semapv:UnspecifiedMatching +DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref NCI:C99003 semapv:UnspecifiedMatching +DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching +DOID:0110334 osteogenesis imperfecta type 1 oboInOwl:hasDbXref GARD:8694 semapv:UnspecifiedMatching DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching -DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching +DOID:0110335 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures oboInOwl:hasDbXref OMIM:166230 semapv:UnspecifiedMatching DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref GARD:10152 semapv:UnspecifiedMatching DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching +DOID:0110336 osteogenesis imperfecta type 8 oboInOwl:hasDbXref OMIM:610915 semapv:UnspecifiedMatching DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref GARD:8701 semapv:UnspecifiedMatching DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref MESH:C565200 semapv:UnspecifiedMatching @@ -7527,14 +7553,14 @@ DOID:0110337 osteogenesis imperfecta type 7 oboInOwl:hasDbXref OMIM:610682 semap DOID:0110338 osteogenesis imperfecta type 17 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110338 osteogenesis imperfecta type 17 oboInOwl:hasDbXref OMIM:616507 semapv:UnspecifiedMatching DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref OMIM:259420 semapv:UnspecifiedMatching -DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref GARD:8695 semapv:UnspecifiedMatching DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching +DOID:0110339 osteogenesis imperfecta type 3 oboInOwl:hasDbXref GARD:8695 semapv:UnspecifiedMatching +DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref GARD:8696 semapv:UnspecifiedMatching DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref OMIM:166220 semapv:UnspecifiedMatching -DOID:0110340 osteogenesis imperfecta type 4 oboInOwl:hasDbXref GARD:8696 semapv:UnspecifiedMatching -DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref GARD:10142 semapv:UnspecifiedMatching DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching +DOID:0110341 osteogenesis imperfecta type 2 oboInOwl:hasDbXref OMIM:166210 semapv:UnspecifiedMatching DOID:0110342 osteogenesis imperfecta type 13 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110342 osteogenesis imperfecta type 13 oboInOwl:hasDbXref OMIM:614856 semapv:UnspecifiedMatching DOID:0110343 osteogenesis imperfecta type 14 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching @@ -7542,14 +7568,14 @@ DOID:0110343 osteogenesis imperfecta type 14 oboInOwl:hasDbXref OMIM:615066 sema DOID:0110344 osteogenesis imperfecta type 5 oboInOwl:hasDbXref GARD:8699 semapv:UnspecifiedMatching DOID:0110344 osteogenesis imperfecta type 5 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110344 osteogenesis imperfecta type 5 oboInOwl:hasDbXref OMIM:610967 semapv:UnspecifiedMatching -DOID:0110345 osteogenesis imperfecta type 16 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110345 osteogenesis imperfecta type 16 oboInOwl:hasDbXref OMIM:616229 semapv:UnspecifiedMatching +DOID:0110345 osteogenesis imperfecta type 16 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110346 osteogenesis imperfecta type 10 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110346 osteogenesis imperfecta type 10 oboInOwl:hasDbXref OMIM:613848 semapv:UnspecifiedMatching DOID:0110347 osteogenesis imperfecta type 15 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110347 osteogenesis imperfecta type 15 oboInOwl:hasDbXref OMIM:615220 semapv:UnspecifiedMatching -DOID:0110348 osteogenesis imperfecta type 12 oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching DOID:0110348 osteogenesis imperfecta type 12 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching +DOID:0110348 osteogenesis imperfecta type 12 oboInOwl:hasDbXref OMIM:613849 semapv:UnspecifiedMatching DOID:0110349 osteogenesis imperfecta type 9 oboInOwl:hasDbXref GARD:10619 semapv:UnspecifiedMatching DOID:0110349 osteogenesis imperfecta type 9 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110349 osteogenesis imperfecta type 9 oboInOwl:hasDbXref OMIM:259440 semapv:UnspecifiedMatching @@ -7558,28 +7584,28 @@ DOID:0110350 osteogenesis imperfecta type 6 oboInOwl:hasDbXref ICD10CM:Q78.0 sem DOID:0110350 osteogenesis imperfecta type 6 oboInOwl:hasDbXref OMIM:613982 semapv:UnspecifiedMatching DOID:0110351 osteogenesis imperfecta type 11 oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching DOID:0110351 osteogenesis imperfecta type 11 oboInOwl:hasDbXref OMIM:610968 semapv:UnspecifiedMatching -DOID:0110352 retinitis pigmentosa 59 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110352 retinitis pigmentosa 59 oboInOwl:hasDbXref OMIM:613861 semapv:UnspecifiedMatching +DOID:0110352 retinitis pigmentosa 59 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110353 retinitis pigmentosa 20 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110353 retinitis pigmentosa 20 oboInOwl:hasDbXref MESH:C566718 semapv:UnspecifiedMatching DOID:0110353 retinitis pigmentosa 20 oboInOwl:hasDbXref OMIM:613794 semapv:UnspecifiedMatching -DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref OMIM:601718 semapv:UnspecifiedMatching -DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref MESH:C566637 semapv:UnspecifiedMatching DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref MESH:C566637 semapv:UnspecifiedMatching +DOID:0110354 retinitis pigmentosa 19 oboInOwl:hasDbXref OMIM:601718 semapv:UnspecifiedMatching DOID:0110355 retinitis pigmentosa 32 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110355 retinitis pigmentosa 32 oboInOwl:hasDbXref MESH:C563689 semapv:UnspecifiedMatching DOID:0110355 retinitis pigmentosa 32 oboInOwl:hasDbXref OMIM:609913 semapv:UnspecifiedMatching DOID:0110356 retinitis pigmentosa 18 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110356 retinitis pigmentosa 18 oboInOwl:hasDbXref MESH:C563320 semapv:UnspecifiedMatching DOID:0110356 retinitis pigmentosa 18 oboInOwl:hasDbXref OMIM:601414 semapv:UnspecifiedMatching -DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref MESH:C565206 semapv:UnspecifiedMatching DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref OMIM:610282 semapv:UnspecifiedMatching -DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref MESH:C563999 semapv:UnspecifiedMatching +DOID:0110357 retinitis pigmentosa 35 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref OMIM:600105 semapv:UnspecifiedMatching -DOID:0110359 retinitis pigmentosa 67 oboInOwl:hasDbXref OMIM:615565 semapv:UnspecifiedMatching +DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref MESH:C563999 semapv:UnspecifiedMatching +DOID:0110358 retinitis pigmentosa 12 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110359 retinitis pigmentosa 67 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110359 retinitis pigmentosa 67 oboInOwl:hasDbXref OMIM:615565 semapv:UnspecifiedMatching DOID:0110360 retinitis pigmentosa 39 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110360 retinitis pigmentosa 39 oboInOwl:hasDbXref OMIM:613809 semapv:UnspecifiedMatching DOID:0110361 retinitis pigmentosa 75 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching @@ -7592,11 +7618,11 @@ DOID:0110364 retinitis pigmentosa 54 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:Uns DOID:0110364 retinitis pigmentosa 54 oboInOwl:hasDbXref OMIM:613428 semapv:UnspecifiedMatching DOID:0110365 retinitis pigmentosa 28 oboInOwl:hasDbXref OMIM:606068 semapv:UnspecifiedMatching DOID:0110365 retinitis pigmentosa 28 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref MESH:C563676 semapv:UnspecifiedMatching DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref OMIM:610359 semapv:UnspecifiedMatching -DOID:0110366 retinitis pigmentosa 33 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110367 retinitis pigmentosa 38 oboInOwl:hasDbXref OMIM:613862 semapv:UnspecifiedMatching DOID:0110367 retinitis pigmentosa 38 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110367 retinitis pigmentosa 38 oboInOwl:hasDbXref OMIM:613862 semapv:UnspecifiedMatching DOID:0110368 retinitis pigmentosa 26 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110368 retinitis pigmentosa 26 oboInOwl:hasDbXref MESH:C564249 semapv:UnspecifiedMatching DOID:0110368 retinitis pigmentosa 26 oboInOwl:hasDbXref OMIM:608380 semapv:UnspecifiedMatching @@ -7604,13 +7630,13 @@ DOID:0110369 retinitis pigmentosa 47 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:Uns DOID:0110369 retinitis pigmentosa 47 oboInOwl:hasDbXref OMIM:613758 semapv:UnspecifiedMatching DOID:0110370 retinitis pigmentosa 55 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110370 retinitis pigmentosa 55 oboInOwl:hasDbXref OMIM:613575 semapv:UnspecifiedMatching -DOID:0110371 retinitis pigmentosa 56 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110371 retinitis pigmentosa 56 oboInOwl:hasDbXref OMIM:613581 semapv:UnspecifiedMatching -DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref MESH:C566706 semapv:UnspecifiedMatching +DOID:0110371 retinitis pigmentosa 56 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref OMIM:613731 semapv:UnspecifiedMatching -DOID:0110373 retinitis pigmentosa 61 oboInOwl:hasDbXref OMIM:614180 semapv:UnspecifiedMatching +DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref MESH:C566706 semapv:UnspecifiedMatching +DOID:0110372 retinitis pigmentosa 4 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110373 retinitis pigmentosa 61 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110373 retinitis pigmentosa 61 oboInOwl:hasDbXref OMIM:614180 semapv:UnspecifiedMatching DOID:0110374 retinitis pigmentosa 68 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110374 retinitis pigmentosa 68 oboInOwl:hasDbXref OMIM:615725 semapv:UnspecifiedMatching DOID:0110375 retinitis pigmentosa 40 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching @@ -7623,10 +7649,10 @@ DOID:0110377 retinitis pigmentosa 49 oboInOwl:hasDbXref OMIM:613756 semapv:Unspe DOID:0110378 retinitis pigmentosa 29 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110378 retinitis pigmentosa 29 oboInOwl:hasDbXref MESH:C567403 semapv:UnspecifiedMatching DOID:0110378 retinitis pigmentosa 29 oboInOwl:hasDbXref OMIM:612165 semapv:UnspecifiedMatching -DOID:0110379 retinitis pigmentosa 43 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110379 retinitis pigmentosa 43 oboInOwl:hasDbXref OMIM:613810 semapv:UnspecifiedMatching -DOID:0110380 retinitis pigmentosa 62 oboInOwl:hasDbXref OMIM:614181 semapv:UnspecifiedMatching +DOID:0110379 retinitis pigmentosa 43 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110380 retinitis pigmentosa 62 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110380 retinitis pigmentosa 62 oboInOwl:hasDbXref OMIM:614181 semapv:UnspecifiedMatching DOID:0110381 retinitis pigmentosa 14 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110381 retinitis pigmentosa 14 oboInOwl:hasDbXref MESH:C563992 semapv:UnspecifiedMatching DOID:0110381 retinitis pigmentosa 14 oboInOwl:hasDbXref OMIM:600132 semapv:UnspecifiedMatching @@ -7640,9 +7666,9 @@ DOID:0110384 retinitis pigmentosa 25 oboInOwl:hasDbXref MESH:C566425 semapv:Unsp DOID:0110384 retinitis pigmentosa 25 oboInOwl:hasDbXref OMIM:602772 semapv:UnspecifiedMatching DOID:0110385 retinitis pigmentosa 63 oboInOwl:hasDbXref OMIM:614494 semapv:UnspecifiedMatching DOID:0110385 retinitis pigmentosa 63 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref OMIM:612943 semapv:UnspecifiedMatching -DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref MESH:C567854 semapv:UnspecifiedMatching DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref MESH:C567854 semapv:UnspecifiedMatching +DOID:0110386 retinitis pigmentosa 42 oboInOwl:hasDbXref OMIM:612943 semapv:UnspecifiedMatching DOID:0110387 retinitis pigmentosa 9 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110387 retinitis pigmentosa 9 oboInOwl:hasDbXref MESH:C566716 semapv:UnspecifiedMatching DOID:0110387 retinitis pigmentosa 9 oboInOwl:hasDbXref OMIM:180104 semapv:UnspecifiedMatching @@ -7652,54 +7678,54 @@ DOID:0110388 retinitis pigmentosa 10 oboInOwl:hasDbXref OMIM:180105 semapv:Unspe DOID:0110389 retinitis pigmentosa 73 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110389 retinitis pigmentosa 73 oboInOwl:hasDbXref OMIM:616544 semapv:UnspecifiedMatching DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref MESH:C538365 semapv:UnspecifiedMatching -DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref OMIM:180100 semapv:UnspecifiedMatching -DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref MESH:C563685 semapv:UnspecifiedMatching +DOID:0110390 retinitis pigmentosa 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref MESH:C563685 semapv:UnspecifiedMatching DOID:0110391 retinitis pigmentosa 31 oboInOwl:hasDbXref OMIM:609923 semapv:UnspecifiedMatching -DOID:0110392 retinitis pigmentosa 70 oboInOwl:hasDbXref OMIM:615922 semapv:UnspecifiedMatching DOID:0110392 retinitis pigmentosa 70 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110392 retinitis pigmentosa 70 oboInOwl:hasDbXref OMIM:615922 semapv:UnspecifiedMatching DOID:0110393 retinitis pigmentosa 66 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110393 retinitis pigmentosa 66 oboInOwl:hasDbXref OMIM:615233 semapv:UnspecifiedMatching DOID:0110394 retinitis pigmentosa 44 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110394 retinitis pigmentosa 44 oboInOwl:hasDbXref OMIM:613769 semapv:UnspecifiedMatching DOID:0110395 retinitis pigmentosa 72 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110395 retinitis pigmentosa 72 oboInOwl:hasDbXref OMIM:616469 semapv:UnspecifiedMatching -DOID:0110396 retinitis pigmentosa 50 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110396 retinitis pigmentosa 50 oboInOwl:hasDbXref OMIM:613194 semapv:UnspecifiedMatching -DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref MESH:C563526 semapv:UnspecifiedMatching +DOID:0110396 retinitis pigmentosa 50 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref OMIM:613750 semapv:UnspecifiedMatching +DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref MESH:C563526 semapv:UnspecifiedMatching +DOID:0110397 retinitis pigmentosa 27 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110398 retinitis pigmentosa 51 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110398 retinitis pigmentosa 51 oboInOwl:hasDbXref OMIM:613464 semapv:UnspecifiedMatching -DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref OMIM:611131 semapv:UnspecifiedMatching DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref MESH:C567005 semapv:UnspecifiedMatching +DOID:0110399 retinitis pigmentosa 37 oboInOwl:hasDbXref OMIM:611131 semapv:UnspecifiedMatching DOID:0110400 retinitis pigmentosa 22 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110400 retinitis pigmentosa 22 oboInOwl:hasDbXref OMIM:602594 semapv:UnspecifiedMatching DOID:0110401 retinitis pigmentosa 74 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110401 retinitis pigmentosa 74 oboInOwl:hasDbXref OMIM:616562 semapv:UnspecifiedMatching DOID:0110402 retinitis pigmentosa 45 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110402 retinitis pigmentosa 45 oboInOwl:hasDbXref OMIM:613767 semapv:UnspecifiedMatching -DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref MESH:C564008 semapv:UnspecifiedMatching DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref OMIM:600059 semapv:UnspecifiedMatching -DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref OMIM:600852 semapv:UnspecifiedMatching +DOID:0110403 retinitis pigmentosa 13 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref MESH:C563437 semapv:UnspecifiedMatching -DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref OMIM:610599 semapv:UnspecifiedMatching +DOID:0110404 retinitis pigmentosa 17 oboInOwl:hasDbXref OMIM:600852 semapv:UnspecifiedMatching DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref MESH:C566431 semapv:UnspecifiedMatching +DOID:0110405 retinitis pigmentosa 36 oboInOwl:hasDbXref OMIM:610599 semapv:UnspecifiedMatching DOID:0110406 retinitis pigmentosa 30 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110406 retinitis pigmentosa 30 oboInOwl:hasDbXref MESH:C564310 semapv:UnspecifiedMatching DOID:0110406 retinitis pigmentosa 30 oboInOwl:hasDbXref OMIM:607921 semapv:UnspecifiedMatching DOID:0110407 retinitis pigmentosa 57 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110407 retinitis pigmentosa 57 oboInOwl:hasDbXref OMIM:613582 semapv:UnspecifiedMatching -DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref MESH:C563991 semapv:UnspecifiedMatching +DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110408 retinitis pigmentosa 11 oboInOwl:hasDbXref OMIM:600138 semapv:UnspecifiedMatching -DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref MESH:C567249 semapv:UnspecifiedMatching +DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110409 retinitis pigmentosa 46 oboInOwl:hasDbXref OMIM:612572 semapv:UnspecifiedMatching DOID:0110410 retinitis pigmentosa 69 oboInOwl:hasDbXref OMIM:615780 semapv:UnspecifiedMatching DOID:0110410 retinitis pigmentosa 69 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching @@ -7719,12 +7745,12 @@ DOID:0110415 retinitis pigmentosa 2 oboInOwl:hasDbXref OMIM:312600 semapv:Unspec DOID:0110416 retinitis pigmentosa 24 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110416 retinitis pigmentosa 24 oboInOwl:hasDbXref OMIM:300155 semapv:UnspecifiedMatching DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref MESH:C564475 semapv:UnspecifiedMatching -DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref OMIM:300605 semapv:UnspecifiedMatching -DOID:0110418 retinitis pigmentosa Y-linked oboInOwl:hasDbXref OMIM:400004 semapv:UnspecifiedMatching +DOID:0110417 retinitis pigmentosa 34 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110418 retinitis pigmentosa Y-linked oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110419 retinitis pigmentosa with or without situs inversus oboInOwl:hasDbXref OMIM:615434 semapv:UnspecifiedMatching +DOID:0110418 retinitis pigmentosa Y-linked oboInOwl:hasDbXref OMIM:400004 semapv:UnspecifiedMatching DOID:0110419 retinitis pigmentosa with or without situs inversus oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110419 retinitis pigmentosa with or without situs inversus oboInOwl:hasDbXref OMIM:615434 semapv:UnspecifiedMatching DOID:0110420 dominant pericentral pigmentary retinopathy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110420 dominant pericentral pigmentary retinopathy oboInOwl:hasDbXref OMIM:180210 semapv:UnspecifiedMatching DOID:0110421 late-adult onset retinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching @@ -7733,14 +7759,14 @@ DOID:0110422 autosomal recessive pericentral pigmentary retinopathy oboInOwl:has DOID:0110422 autosomal recessive pericentral pigmentary retinopathy oboInOwl:hasDbXref OMIM:268060 semapv:UnspecifiedMatching DOID:0110423 dilated cardiomyopathy 1C oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110423 dilated cardiomyopathy 1C oboInOwl:hasDbXref OMIM:601493 semapv:UnspecifiedMatching -DOID:0110424 dilated cardiomyopathy 1CC oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110424 dilated cardiomyopathy 1CC oboInOwl:hasDbXref OMIM:613122 semapv:UnspecifiedMatching -DOID:0110425 dilated cardiomyopathy 1A oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching +DOID:0110424 dilated cardiomyopathy 1CC oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110425 dilated cardiomyopathy 1A oboInOwl:hasDbXref ORDO:300751 semapv:UnspecifiedMatching +DOID:0110425 dilated cardiomyopathy 1A oboInOwl:hasDbXref OMIM:115200 semapv:UnspecifiedMatching DOID:0110426 dilated cardiomyopathy 1D oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110426 dilated cardiomyopathy 1D oboInOwl:hasDbXref OMIM:601494 semapv:UnspecifiedMatching -DOID:0110427 dilated cardiomyopathy 1V oboInOwl:hasDbXref OMIM:613697 semapv:UnspecifiedMatching DOID:0110427 dilated cardiomyopathy 1V oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching +DOID:0110427 dilated cardiomyopathy 1V oboInOwl:hasDbXref OMIM:613697 semapv:UnspecifiedMatching DOID:0110428 dilated cardiomyopathy 1AA oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110428 dilated cardiomyopathy 1AA oboInOwl:hasDbXref OMIM:612158 semapv:UnspecifiedMatching DOID:0110429 dilated cardiomyopathy 1H oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching @@ -7751,12 +7777,12 @@ DOID:0110431 dilated cardiomyopathy 1I oboInOwl:hasDbXref ICD10CM:I42.0 semapv:U DOID:0110431 dilated cardiomyopathy 1I oboInOwl:hasDbXref OMIM:604765 semapv:UnspecifiedMatching DOID:0110432 dilated cardiomyopathy 1NN oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110432 dilated cardiomyopathy 1NN oboInOwl:hasDbXref OMIM:615916 semapv:UnspecifiedMatching -DOID:0110433 dilated cardiomyopathy 1E oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110433 dilated cardiomyopathy 1E oboInOwl:hasDbXref OMIM:601154 semapv:UnspecifiedMatching +DOID:0110433 dilated cardiomyopathy 1E oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110434 dilated cardiomyopathy 1Z oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110434 dilated cardiomyopathy 1Z oboInOwl:hasDbXref OMIM:611879 semapv:UnspecifiedMatching -DOID:0110435 dilated cardiomyopathy 1GG oboInOwl:hasDbXref OMIM:613642 semapv:UnspecifiedMatching DOID:0110435 dilated cardiomyopathy 1GG oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching +DOID:0110435 dilated cardiomyopathy 1GG oboInOwl:hasDbXref OMIM:613642 semapv:UnspecifiedMatching DOID:0110436 dilated cardiomyopathy 1L oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110436 dilated cardiomyopathy 1L oboInOwl:hasDbXref OMIM:606685 semapv:UnspecifiedMatching DOID:0110437 dilated cardiomyopathy 1K oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching @@ -7767,12 +7793,12 @@ DOID:0110439 dilated cardiomyopathy 1P oboInOwl:hasDbXref ICD10CM:I42.0 semapv:U DOID:0110439 dilated cardiomyopathy 1P oboInOwl:hasDbXref OMIM:609909 semapv:UnspecifiedMatching DOID:0110440 dilated cardiomyopathy 1J oboInOwl:hasDbXref OMIM:605362 semapv:UnspecifiedMatching DOID:0110440 dilated cardiomyopathy 1J oboInOwl:hasDbXref ORDO:217622 semapv:UnspecifiedMatching -DOID:0110441 dilated cardiomyopathy 2B oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110441 dilated cardiomyopathy 2B oboInOwl:hasDbXref OMIM:614672 semapv:UnspecifiedMatching -DOID:0110442 dilated cardiomyopathy 1Q oboInOwl:hasDbXref OMIM:609915 semapv:UnspecifiedMatching +DOID:0110441 dilated cardiomyopathy 2B oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110442 dilated cardiomyopathy 1Q oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110443 dilated cardiomyopathy 1B oboInOwl:hasDbXref OMIM:600884 semapv:UnspecifiedMatching +DOID:0110442 dilated cardiomyopathy 1Q oboInOwl:hasDbXref OMIM:609915 semapv:UnspecifiedMatching DOID:0110443 dilated cardiomyopathy 1B oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching +DOID:0110443 dilated cardiomyopathy 1B oboInOwl:hasDbXref OMIM:600884 semapv:UnspecifiedMatching DOID:0110444 dilated cardiomyopathy 1X oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110444 dilated cardiomyopathy 1X oboInOwl:hasDbXref OMIM:611615 semapv:UnspecifiedMatching DOID:0110445 dilated cardiomyopathy 1KK oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching @@ -7783,12 +7809,12 @@ DOID:0110447 dilated cardiomyopathy 1DD oboInOwl:hasDbXref ICD10CM:I42.0 semapv: DOID:0110447 dilated cardiomyopathy 1DD oboInOwl:hasDbXref OMIM:613172 semapv:UnspecifiedMatching DOID:0110448 dilated cardiomyopathy 1HH oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110448 dilated cardiomyopathy 1HH oboInOwl:hasDbXref OMIM:613881 semapv:UnspecifiedMatching -DOID:0110449 dilated cardiomyopathy 1M oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110449 dilated cardiomyopathy 1M oboInOwl:hasDbXref OMIM:607482 semapv:UnspecifiedMatching -DOID:0110450 dilated cardiomyopathy 1II oboInOwl:hasDbXref OMIM:615184 semapv:UnspecifiedMatching +DOID:0110449 dilated cardiomyopathy 1M oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110450 dilated cardiomyopathy 1II oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching -DOID:0110451 dilated cardiomyopathy 1O oboInOwl:hasDbXref OMIM:608569 semapv:UnspecifiedMatching +DOID:0110450 dilated cardiomyopathy 1II oboInOwl:hasDbXref OMIM:615184 semapv:UnspecifiedMatching DOID:0110451 dilated cardiomyopathy 1O oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching +DOID:0110451 dilated cardiomyopathy 1O oboInOwl:hasDbXref OMIM:608569 semapv:UnspecifiedMatching DOID:0110452 dilated cardiomyopathy 1T oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110453 dilated cardiomyopathy 1EE oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110453 dilated cardiomyopathy 1EE oboInOwl:hasDbXref OMIM:613252 semapv:UnspecifiedMatching @@ -7798,14 +7824,14 @@ DOID:0110455 dilated cardiomyopathy 1U oboInOwl:hasDbXref ICD10CM:I42.0 semapv:U DOID:0110455 dilated cardiomyopathy 1U oboInOwl:hasDbXref OMIM:613694 semapv:UnspecifiedMatching DOID:0110456 dilated cardiomyopathy 1R oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110456 dilated cardiomyopathy 1R oboInOwl:hasDbXref OMIM:613424 semapv:UnspecifiedMatching -DOID:0110457 dilated cardiomyopathy 1Y oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110457 dilated cardiomyopathy 1Y oboInOwl:hasDbXref OMIM:611878 semapv:UnspecifiedMatching +DOID:0110457 dilated cardiomyopathy 1Y oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110458 dilated cardiomyopathy 1BB oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110458 dilated cardiomyopathy 1BB oboInOwl:hasDbXref OMIM:612877 semapv:UnspecifiedMatching DOID:0110459 dilated cardiomyopathy 1FF oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110459 dilated cardiomyopathy 1FF oboInOwl:hasDbXref OMIM:613286 semapv:UnspecifiedMatching -DOID:0110460 dilated cardiomyopathy 2A oboInOwl:hasDbXref OMIM:611880 semapv:UnspecifiedMatching DOID:0110460 dilated cardiomyopathy 2A oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching +DOID:0110460 dilated cardiomyopathy 2A oboInOwl:hasDbXref OMIM:611880 semapv:UnspecifiedMatching DOID:0110461 X-linked dilated cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:0110461 X-linked dilated cardiomyopathy oboInOwl:hasDbXref MESH:C580047 semapv:UnspecifiedMatching DOID:0110461 X-linked dilated cardiomyopathy oboInOwl:hasDbXref OMIM:302045 semapv:UnspecifiedMatching @@ -7813,14 +7839,14 @@ DOID:0110462 autosomal recessive nonsyndromic deafness 101 oboInOwl:hasDbXref IC DOID:0110462 autosomal recessive nonsyndromic deafness 101 oboInOwl:hasDbXref OMIM:615837 semapv:UnspecifiedMatching DOID:0110463 autosomal recessive nonsyndromic deafness 102 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110463 autosomal recessive nonsyndromic deafness 102 oboInOwl:hasDbXref OMIM:615974 semapv:UnspecifiedMatching -DOID:0110464 autosomal recessive nonsyndromic deafness 103 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110464 autosomal recessive nonsyndromic deafness 103 oboInOwl:hasDbXref OMIM:616042 semapv:UnspecifiedMatching +DOID:0110464 autosomal recessive nonsyndromic deafness 103 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110465 autosomal recessive nonsyndromic deafness 104 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110465 autosomal recessive nonsyndromic deafness 104 oboInOwl:hasDbXref OMIM:616515 semapv:UnspecifiedMatching DOID:0110467 autosomal recessive nonsyndromic deafness 12 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110467 autosomal recessive nonsyndromic deafness 12 oboInOwl:hasDbXref OMIM:601386 semapv:UnspecifiedMatching -DOID:0110468 autosomal recessive nonsyndromic deafness 13 oboInOwl:hasDbXref OMIM:603098 semapv:UnspecifiedMatching DOID:0110468 autosomal recessive nonsyndromic deafness 13 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110468 autosomal recessive nonsyndromic deafness 13 oboInOwl:hasDbXref OMIM:603098 semapv:UnspecifiedMatching DOID:0110469 autosomal recessive nonsyndromic deafness 14 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110469 autosomal recessive nonsyndromic deafness 14 oboInOwl:hasDbXref OMIM:603678 semapv:UnspecifiedMatching DOID:0110470 autosomal recessive nonsyndromic deafness 15 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7829,14 +7855,14 @@ DOID:0110471 autosomal recessive nonsyndromic deafness 16 oboInOwl:hasDbXref ICD DOID:0110471 autosomal recessive nonsyndromic deafness 16 oboInOwl:hasDbXref OMIM:603720 semapv:UnspecifiedMatching DOID:0110472 autosomal recessive nonsyndromic deafness 17 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110472 autosomal recessive nonsyndromic deafness 17 oboInOwl:hasDbXref OMIM:603010 semapv:UnspecifiedMatching -DOID:0110473 autosomal recessive nonsyndromic deafness 18A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110473 autosomal recessive nonsyndromic deafness 18A oboInOwl:hasDbXref OMIM:602092 semapv:UnspecifiedMatching -DOID:0110474 autosomal recessive nonsyndromic deafness 18B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110473 autosomal recessive nonsyndromic deafness 18A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110474 autosomal recessive nonsyndromic deafness 18B oboInOwl:hasDbXref OMIM:614945 semapv:UnspecifiedMatching +DOID:0110474 autosomal recessive nonsyndromic deafness 18B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110475 autosomal recessive nonsyndromic deafness 1A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110475 autosomal recessive nonsyndromic deafness 1A oboInOwl:hasDbXref OMIM:220290 semapv:UnspecifiedMatching -DOID:0110476 autosomal recessive nonsyndromic deafness 1B oboInOwl:hasDbXref OMIM:612645 semapv:UnspecifiedMatching DOID:0110476 autosomal recessive nonsyndromic deafness 1B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110476 autosomal recessive nonsyndromic deafness 1B oboInOwl:hasDbXref OMIM:612645 semapv:UnspecifiedMatching DOID:0110477 autosomal recessive nonsyndromic deafness 2 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110477 autosomal recessive nonsyndromic deafness 2 oboInOwl:hasDbXref OMIM:600060 semapv:UnspecifiedMatching DOID:0110478 autosomal recessive nonsyndromic deafness 20 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7847,12 +7873,12 @@ DOID:0110480 autosomal recessive nonsyndromic deafness 22 oboInOwl:hasDbXref ICD DOID:0110480 autosomal recessive nonsyndromic deafness 22 oboInOwl:hasDbXref OMIM:607039 semapv:UnspecifiedMatching DOID:0110481 autosomal recessive nonsyndromic deafness 23 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110481 autosomal recessive nonsyndromic deafness 23 oboInOwl:hasDbXref OMIM:609533 semapv:UnspecifiedMatching -DOID:0110482 autosomal recessive nonsyndromic deafness 24 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110482 autosomal recessive nonsyndromic deafness 24 oboInOwl:hasDbXref OMIM:611022 semapv:UnspecifiedMatching +DOID:0110482 autosomal recessive nonsyndromic deafness 24 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110483 autosomal recessive nonsyndromic deafness 25 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110483 autosomal recessive nonsyndromic deafness 25 oboInOwl:hasDbXref OMIM:613285 semapv:UnspecifiedMatching -DOID:0110484 autosomal recessive nonsyndromic deafness 26 oboInOwl:hasDbXref OMIM:605428 semapv:UnspecifiedMatching DOID:0110484 autosomal recessive nonsyndromic deafness 26 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110484 autosomal recessive nonsyndromic deafness 26 oboInOwl:hasDbXref OMIM:605428 semapv:UnspecifiedMatching DOID:0110485 autosomal recessive nonsyndromic deafness 27 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110485 autosomal recessive nonsyndromic deafness 27 oboInOwl:hasDbXref OMIM:605818 semapv:UnspecifiedMatching DOID:0110486 autosomal recessive nonsyndromic deafness 28 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7861,13 +7887,13 @@ DOID:0110487 autosomal recessive nonsyndromic deafness 29 oboInOwl:hasDbXref ICD DOID:0110487 autosomal recessive nonsyndromic deafness 29 oboInOwl:hasDbXref OMIM:614035 semapv:UnspecifiedMatching DOID:0110488 autosomal recessive nonsyndromic deafness 3 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110488 autosomal recessive nonsyndromic deafness 3 oboInOwl:hasDbXref OMIM:600316 semapv:UnspecifiedMatching -DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref OMIM:607101 semapv:UnspecifiedMatching DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref ORDO:90636 semapv:UnspecifiedMatching +DOID:0110489 autosomal recessive nonsyndromic deafness 30 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110490 autosomal recessive nonsyndromic deafness 31 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110490 autosomal recessive nonsyndromic deafness 31 oboInOwl:hasDbXref OMIM:607084 semapv:UnspecifiedMatching -DOID:0110491 autosomal recessive nonsyndromic deafness 32 oboInOwl:hasDbXref OMIM:608653 semapv:UnspecifiedMatching DOID:0110491 autosomal recessive nonsyndromic deafness 32 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110491 autosomal recessive nonsyndromic deafness 32 oboInOwl:hasDbXref OMIM:608653 semapv:UnspecifiedMatching DOID:0110492 autosomal recessive nonsyndromic deafness 33 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110492 autosomal recessive nonsyndromic deafness 33 oboInOwl:hasDbXref OMIM:607239 semapv:UnspecifiedMatching DOID:0110493 autosomal recessive nonsyndromic deafness 35 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7876,14 +7902,14 @@ DOID:0110494 autosomal recessive nonsyndromic deafness 36 oboInOwl:hasDbXref ICD DOID:0110494 autosomal recessive nonsyndromic deafness 36 oboInOwl:hasDbXref OMIM:609006 semapv:UnspecifiedMatching DOID:0110495 autosomal recessive nonsyndromic deafness 37 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110495 autosomal recessive nonsyndromic deafness 37 oboInOwl:hasDbXref OMIM:607821 semapv:UnspecifiedMatching -DOID:0110496 autosomal recessive nonsyndromic deafness 38 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110496 autosomal recessive nonsyndromic deafness 38 oboInOwl:hasDbXref OMIM:608219 semapv:UnspecifiedMatching -DOID:0110497 autosomal recessive nonsyndromic deafness 39 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110496 autosomal recessive nonsyndromic deafness 38 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110497 autosomal recessive nonsyndromic deafness 39 oboInOwl:hasDbXref OMIM:608265 semapv:UnspecifiedMatching +DOID:0110497 autosomal recessive nonsyndromic deafness 39 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110498 autosomal recessive nonsyndromic deafness 4 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110498 autosomal recessive nonsyndromic deafness 4 oboInOwl:hasDbXref OMIM:600791 semapv:UnspecifiedMatching -DOID:0110499 autosomal recessive nonsyndromic deafness 40 oboInOwl:hasDbXref OMIM:608264 semapv:UnspecifiedMatching DOID:0110499 autosomal recessive nonsyndromic deafness 40 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110499 autosomal recessive nonsyndromic deafness 40 oboInOwl:hasDbXref OMIM:608264 semapv:UnspecifiedMatching DOID:0110500 autosomal recessive nonsyndromic deafness 42 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110500 autosomal recessive nonsyndromic deafness 42 oboInOwl:hasDbXref OMIM:609646 semapv:UnspecifiedMatching DOID:0110501 autosomal recessive nonsyndromic deafness 44 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7894,12 +7920,12 @@ DOID:0110503 autosomal recessive nonsyndromic deafness 46 oboInOwl:hasDbXref ICD DOID:0110503 autosomal recessive nonsyndromic deafness 46 oboInOwl:hasDbXref OMIM:609647 semapv:UnspecifiedMatching DOID:0110504 autosomal recessive nonsyndromic deafness 47 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110504 autosomal recessive nonsyndromic deafness 47 oboInOwl:hasDbXref OMIM:609946 semapv:UnspecifiedMatching -DOID:0110505 autosomal recessive nonsyndromic deafness 48 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110505 autosomal recessive nonsyndromic deafness 48 oboInOwl:hasDbXref OMIM:609439 semapv:UnspecifiedMatching -DOID:0110506 autosomal recessive nonsyndromic deafness 49 oboInOwl:hasDbXref OMIM:610153 semapv:UnspecifiedMatching +DOID:0110505 autosomal recessive nonsyndromic deafness 48 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110506 autosomal recessive nonsyndromic deafness 49 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110507 autosomal recessive nonsyndromic deafness 5 oboInOwl:hasDbXref OMIM:600792 semapv:UnspecifiedMatching +DOID:0110506 autosomal recessive nonsyndromic deafness 49 oboInOwl:hasDbXref OMIM:610153 semapv:UnspecifiedMatching DOID:0110507 autosomal recessive nonsyndromic deafness 5 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110507 autosomal recessive nonsyndromic deafness 5 oboInOwl:hasDbXref OMIM:600792 semapv:UnspecifiedMatching DOID:0110508 autosomal recessive nonsyndromic deafness 51 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110508 autosomal recessive nonsyndromic deafness 51 oboInOwl:hasDbXref OMIM:609941 semapv:UnspecifiedMatching DOID:0110509 autosomal recessive nonsyndromic deafness 53 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7909,28 +7935,28 @@ DOID:0110510 autosomal recessive nonsyndromic deafness 55 oboInOwl:hasDbXref ICD DOID:0110510 autosomal recessive nonsyndromic deafness 55 oboInOwl:hasDbXref OMIM:609952 semapv:UnspecifiedMatching DOID:0110511 autosomal recessive nonsyndromic deafness 59 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110511 autosomal recessive nonsyndromic deafness 59 oboInOwl:hasDbXref OMIM:610220 semapv:UnspecifiedMatching -DOID:0110512 autosomal recessive nonsyndromic deafness 6 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110512 autosomal recessive nonsyndromic deafness 6 oboInOwl:hasDbXref OMIM:600971 semapv:UnspecifiedMatching +DOID:0110512 autosomal recessive nonsyndromic deafness 6 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110513 autosomal recessive nonsyndromic deafness 61 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110513 autosomal recessive nonsyndromic deafness 61 oboInOwl:hasDbXref OMIM:613865 semapv:UnspecifiedMatching -DOID:0110514 autosomal recessive nonsyndromic deafness 62 oboInOwl:hasDbXref OMIM:610143 semapv:UnspecifiedMatching DOID:0110514 autosomal recessive nonsyndromic deafness 62 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110515 autosomal recessive nonsyndromic deafness 63 oboInOwl:hasDbXref OMIM:611451 semapv:UnspecifiedMatching +DOID:0110514 autosomal recessive nonsyndromic deafness 62 oboInOwl:hasDbXref OMIM:610143 semapv:UnspecifiedMatching DOID:0110515 autosomal recessive nonsyndromic deafness 63 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110515 autosomal recessive nonsyndromic deafness 63 oboInOwl:hasDbXref OMIM:611451 semapv:UnspecifiedMatching DOID:0110516 autosomal recessive nonsyndromic deafness 65 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110516 autosomal recessive nonsyndromic deafness 65 oboInOwl:hasDbXref OMIM:610248 semapv:UnspecifiedMatching DOID:0110517 autosomal recessive nonsyndromic deafness 66 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110517 autosomal recessive nonsyndromic deafness 66 oboInOwl:hasDbXref OMIM:610212 semapv:UnspecifiedMatching DOID:0110518 autosomal recessive nonsyndromic deafness 67 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110518 autosomal recessive nonsyndromic deafness 67 oboInOwl:hasDbXref OMIM:610265 semapv:UnspecifiedMatching -DOID:0110519 autosomal recessive nonsyndromic deafness 68 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110519 autosomal recessive nonsyndromic deafness 68 oboInOwl:hasDbXref OMIM:610419 semapv:UnspecifiedMatching -DOID:0110520 autosomal recessive nonsyndromic deafness 7 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110519 autosomal recessive nonsyndromic deafness 68 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110520 autosomal recessive nonsyndromic deafness 7 oboInOwl:hasDbXref OMIM:600974 semapv:UnspecifiedMatching +DOID:0110520 autosomal recessive nonsyndromic deafness 7 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110521 autosomal recessive nonsyndromic deafness 70 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110521 autosomal recessive nonsyndromic deafness 70 oboInOwl:hasDbXref OMIM:614934 semapv:UnspecifiedMatching -DOID:0110522 autosomal recessive nonsyndromic deafness 71 oboInOwl:hasDbXref OMIM:612789 semapv:UnspecifiedMatching DOID:0110522 autosomal recessive nonsyndromic deafness 71 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110522 autosomal recessive nonsyndromic deafness 71 oboInOwl:hasDbXref OMIM:612789 semapv:UnspecifiedMatching DOID:0110523 autosomal recessive nonsyndromic deafness 74 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110523 autosomal recessive nonsyndromic deafness 74 oboInOwl:hasDbXref OMIM:613718 semapv:UnspecifiedMatching DOID:0110524 autosomal recessive nonsyndromic deafness 76 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7941,12 +7967,12 @@ DOID:0110526 autosomal recessive nonsyndromic deafness 79 oboInOwl:hasDbXref ICD DOID:0110526 autosomal recessive nonsyndromic deafness 79 oboInOwl:hasDbXref OMIM:613307 semapv:UnspecifiedMatching DOID:0110527 autosomal recessive nonsyndromic deafness 8 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110527 autosomal recessive nonsyndromic deafness 8 oboInOwl:hasDbXref OMIM:601072 semapv:UnspecifiedMatching -DOID:0110528 autosomal recessive nonsyndromic deafness 83 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110528 autosomal recessive nonsyndromic deafness 83 oboInOwl:hasDbXref OMIM:613685 semapv:UnspecifiedMatching +DOID:0110528 autosomal recessive nonsyndromic deafness 83 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110529 autosomal recessive nonsyndromic deafness 84A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110529 autosomal recessive nonsyndromic deafness 84A oboInOwl:hasDbXref OMIM:613391 semapv:UnspecifiedMatching -DOID:0110530 autosomal recessive nonsyndromic deafness 84B oboInOwl:hasDbXref OMIM:614944 semapv:UnspecifiedMatching DOID:0110530 autosomal recessive nonsyndromic deafness 84B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110530 autosomal recessive nonsyndromic deafness 84B oboInOwl:hasDbXref OMIM:614944 semapv:UnspecifiedMatching DOID:0110531 autosomal recessive nonsyndromic deafness 85 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110531 autosomal recessive nonsyndromic deafness 85 oboInOwl:hasDbXref OMIM:613392 semapv:UnspecifiedMatching DOID:0110532 autosomal recessive nonsyndromic deafness 86 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7961,8 +7987,8 @@ DOID:0110536 autosomal recessive nonsyndromic deafness 91 oboInOwl:hasDbXref ICD DOID:0110536 autosomal recessive nonsyndromic deafness 91 oboInOwl:hasDbXref OMIM:613453 semapv:UnspecifiedMatching DOID:0110537 autosomal recessive nonsyndromic deafness 93 oboInOwl:hasDbXref OMIM:614899 semapv:UnspecifiedMatching DOID:0110537 autosomal recessive nonsyndromic deafness 93 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110538 autosomal recessive nonsyndromic deafness 96 oboInOwl:hasDbXref OMIM:614414 semapv:UnspecifiedMatching DOID:0110538 autosomal recessive nonsyndromic deafness 96 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110538 autosomal recessive nonsyndromic deafness 96 oboInOwl:hasDbXref OMIM:614414 semapv:UnspecifiedMatching DOID:0110539 autosomal recessive nonsyndromic deafness 97 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110539 autosomal recessive nonsyndromic deafness 97 oboInOwl:hasDbXref OMIM:616705 semapv:UnspecifiedMatching DOID:0110540 autosomal recessive nonsyndromic deafness 98 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7973,14 +7999,14 @@ DOID:0110542 autosomal dominant nonsyndromic deafness 10 oboInOwl:hasDbXref ICD1 DOID:0110542 autosomal dominant nonsyndromic deafness 10 oboInOwl:hasDbXref OMIM:601316 semapv:UnspecifiedMatching DOID:0110543 autosomal dominant nonsyndromic deafness 11 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110543 autosomal dominant nonsyndromic deafness 11 oboInOwl:hasDbXref OMIM:601317 semapv:UnspecifiedMatching -DOID:0110544 autosomal dominant nonsyndromic deafness 12 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110544 autosomal dominant nonsyndromic deafness 12 oboInOwl:hasDbXref OMIM:601543 semapv:UnspecifiedMatching +DOID:0110544 autosomal dominant nonsyndromic deafness 12 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110545 autosomal dominant nonsyndromic deafness 13 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110545 autosomal dominant nonsyndromic deafness 13 oboInOwl:hasDbXref OMIM:601868 semapv:UnspecifiedMatching -DOID:0110546 autosomal dominant nonsyndromic deafness 15 oboInOwl:hasDbXref OMIM:602459 semapv:UnspecifiedMatching DOID:0110546 autosomal dominant nonsyndromic deafness 15 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110547 autosomal dominant nonsyndromic deafness 16 oboInOwl:hasDbXref OMIM:603964 semapv:UnspecifiedMatching +DOID:0110546 autosomal dominant nonsyndromic deafness 15 oboInOwl:hasDbXref OMIM:602459 semapv:UnspecifiedMatching DOID:0110547 autosomal dominant nonsyndromic deafness 16 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110547 autosomal dominant nonsyndromic deafness 16 oboInOwl:hasDbXref OMIM:603964 semapv:UnspecifiedMatching DOID:0110548 autosomal dominant nonsyndromic deafness 17 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110548 autosomal dominant nonsyndromic deafness 17 oboInOwl:hasDbXref OMIM:603622 semapv:UnspecifiedMatching DOID:0110549 autosomal dominant nonsyndromic deafness 18 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -7989,13 +8015,13 @@ DOID:0110550 autosomal dominant nonsyndromic deafness 20 oboInOwl:hasDbXref ICD1 DOID:0110550 autosomal dominant nonsyndromic deafness 20 oboInOwl:hasDbXref OMIM:604717 semapv:UnspecifiedMatching DOID:0110551 autosomal dominant nonsyndromic deafness 21 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110551 autosomal dominant nonsyndromic deafness 21 oboInOwl:hasDbXref OMIM:607017 semapv:UnspecifiedMatching -DOID:0110552 autosomal dominant nonsyndromic deafness 22 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110552 autosomal dominant nonsyndromic deafness 22 oboInOwl:hasDbXref OMIM:606346 semapv:UnspecifiedMatching +DOID:0110552 autosomal dominant nonsyndromic deafness 22 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110553 autosomal dominant nonsyndromic deafness 23 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110553 autosomal dominant nonsyndromic deafness 23 oboInOwl:hasDbXref OMIM:605192 semapv:UnspecifiedMatching +DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref GARD:9166 semapv:UnspecifiedMatching DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref OMIM:606282 semapv:UnspecifiedMatching -DOID:0110554 autosomal dominant nonsyndromic deafness 24 oboInOwl:hasDbXref GARD:9166 semapv:UnspecifiedMatching DOID:0110555 autosomal dominant nonsyndromic deafness 25 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110555 autosomal dominant nonsyndromic deafness 25 oboInOwl:hasDbXref OMIM:605583 semapv:UnspecifiedMatching DOID:0110556 autosomal dominant nonsyndromic deafness 27 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -8004,14 +8030,14 @@ DOID:0110557 autosomal dominant nonsyndromic deafness 28 oboInOwl:hasDbXref ICD1 DOID:0110557 autosomal dominant nonsyndromic deafness 28 oboInOwl:hasDbXref OMIM:608641 semapv:UnspecifiedMatching DOID:0110558 autosomal dominant nonsyndromic deafness 2A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110558 autosomal dominant nonsyndromic deafness 2A oboInOwl:hasDbXref OMIM:600101 semapv:UnspecifiedMatching -DOID:0110559 autosomal dominant nonsyndromic deafness 2B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110559 autosomal dominant nonsyndromic deafness 2B oboInOwl:hasDbXref OMIM:612644 semapv:UnspecifiedMatching +DOID:0110559 autosomal dominant nonsyndromic deafness 2B oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110560 autosomal dominant nonsyndromic deafness 30 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110560 autosomal dominant nonsyndromic deafness 30 oboInOwl:hasDbXref OMIM:606451 semapv:UnspecifiedMatching DOID:0110561 autosomal dominant nonsyndromic deafness 31 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110561 autosomal dominant nonsyndromic deafness 31 oboInOwl:hasDbXref OMIM:608645 semapv:UnspecifiedMatching -DOID:0110562 autosomal dominant nonsyndromic deafness 33 oboInOwl:hasDbXref OMIM:614211 semapv:UnspecifiedMatching DOID:0110562 autosomal dominant nonsyndromic deafness 33 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110562 autosomal dominant nonsyndromic deafness 33 oboInOwl:hasDbXref OMIM:614211 semapv:UnspecifiedMatching DOID:0110563 autosomal dominant nonsyndromic deafness 36 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110563 autosomal dominant nonsyndromic deafness 36 oboInOwl:hasDbXref OMIM:606705 semapv:UnspecifiedMatching DOID:0110564 autosomal dominant nonsyndromic deafness 3A oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -8022,12 +8048,12 @@ DOID:0110566 autosomal dominant nonsyndromic deafness 40 oboInOwl:hasDbXref ICD1 DOID:0110566 autosomal dominant nonsyndromic deafness 40 oboInOwl:hasDbXref OMIM:616357 semapv:UnspecifiedMatching DOID:0110567 autosomal dominant nonsyndromic deafness 41 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110567 autosomal dominant nonsyndromic deafness 41 oboInOwl:hasDbXref OMIM:608224 semapv:UnspecifiedMatching -DOID:0110568 autosomal dominant nonsyndromic deafness 43 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110568 autosomal dominant nonsyndromic deafness 43 oboInOwl:hasDbXref OMIM:608394 semapv:UnspecifiedMatching -DOID:0110569 autosomal dominant nonsyndromic deafness 44 oboInOwl:hasDbXref OMIM:607453 semapv:UnspecifiedMatching +DOID:0110568 autosomal dominant nonsyndromic deafness 43 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110569 autosomal dominant nonsyndromic deafness 44 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110570 autosomal dominant nonsyndromic deafness 47 oboInOwl:hasDbXref OMIM:608652 semapv:UnspecifiedMatching +DOID:0110569 autosomal dominant nonsyndromic deafness 44 oboInOwl:hasDbXref OMIM:607453 semapv:UnspecifiedMatching DOID:0110570 autosomal dominant nonsyndromic deafness 47 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110570 autosomal dominant nonsyndromic deafness 47 oboInOwl:hasDbXref OMIM:608652 semapv:UnspecifiedMatching DOID:0110571 autosomal dominant nonsyndromic deafness 48 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110571 autosomal dominant nonsyndromic deafness 48 oboInOwl:hasDbXref OMIM:607841 semapv:UnspecifiedMatching DOID:0110572 autosomal dominant nonsyndromic deafness 49 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -8038,12 +8064,12 @@ DOID:0110574 autosomal dominant nonsyndromic deafness 4B oboInOwl:hasDbXref ICD1 DOID:0110574 autosomal dominant nonsyndromic deafness 4B oboInOwl:hasDbXref OMIM:614614 semapv:UnspecifiedMatching DOID:0110575 autosomal dominant nonsyndromic deafness 5 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110575 autosomal dominant nonsyndromic deafness 5 oboInOwl:hasDbXref OMIM:600994 semapv:UnspecifiedMatching -DOID:0110576 autosomal dominant nonsyndromic deafness 50 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110576 autosomal dominant nonsyndromic deafness 50 oboInOwl:hasDbXref OMIM:613074 semapv:UnspecifiedMatching +DOID:0110576 autosomal dominant nonsyndromic deafness 50 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110577 autosomal dominant nonsyndromic deafness 51 oboInOwl:hasDbXref OMIM:613558 semapv:UnspecifiedMatching -DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110578 autosomal dominant nonsyndromic deafness 52 oboInOwl:hasDbXref OMIM:607683 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref GARD:9934 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110579 autosomal dominant nonsyndromic deafness 53 oboInOwl:hasDbXref OMIM:609965 semapv:UnspecifiedMatching @@ -8053,12 +8079,12 @@ DOID:0110581 autosomal dominant nonsyndromic deafness 56 oboInOwl:hasDbXref ICD1 DOID:0110581 autosomal dominant nonsyndromic deafness 56 oboInOwl:hasDbXref OMIM:615629 semapv:UnspecifiedMatching DOID:0110582 autosomal dominant nonsyndromic deafness 58 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110582 autosomal dominant nonsyndromic deafness 58 oboInOwl:hasDbXref OMIM:615654 semapv:UnspecifiedMatching -DOID:0110583 autosomal dominant nonsyndromic deafness 59 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110583 autosomal dominant nonsyndromic deafness 59 oboInOwl:hasDbXref OMIM:612642 semapv:UnspecifiedMatching -DOID:0110584 autosomal dominant nonsyndromic deafness 6 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110583 autosomal dominant nonsyndromic deafness 59 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110584 autosomal dominant nonsyndromic deafness 6 oboInOwl:hasDbXref OMIM:600965 semapv:UnspecifiedMatching -DOID:0110585 autosomal dominant nonsyndromic deafness 64 oboInOwl:hasDbXref OMIM:614152 semapv:UnspecifiedMatching +DOID:0110584 autosomal dominant nonsyndromic deafness 6 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110585 autosomal dominant nonsyndromic deafness 64 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110585 autosomal dominant nonsyndromic deafness 64 oboInOwl:hasDbXref OMIM:614152 semapv:UnspecifiedMatching DOID:0110586 autosomal dominant nonsyndromic deafness 65 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110586 autosomal dominant nonsyndromic deafness 65 oboInOwl:hasDbXref OMIM:616044 semapv:UnspecifiedMatching DOID:0110587 autosomal dominant nonsyndromic deafness 66 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching @@ -8069,12 +8095,12 @@ DOID:0110589 autosomal dominant nonsyndromic deafness 68 oboInOwl:hasDbXref ICD1 DOID:0110589 autosomal dominant nonsyndromic deafness 68 oboInOwl:hasDbXref OMIM:616707 semapv:UnspecifiedMatching DOID:0110590 autosomal dominant nonsyndromic deafness 69 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110590 autosomal dominant nonsyndromic deafness 69 oboInOwl:hasDbXref OMIM:616697 semapv:UnspecifiedMatching -DOID:0110591 autosomal dominant nonsyndromic deafness 7 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110591 autosomal dominant nonsyndromic deafness 7 oboInOwl:hasDbXref OMIM:601412 semapv:UnspecifiedMatching -DOID:0110592 autosomal dominant nonsyndromic deafness 70 oboInOwl:hasDbXref OMIM:616968 semapv:UnspecifiedMatching +DOID:0110591 autosomal dominant nonsyndromic deafness 7 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching DOID:0110592 autosomal dominant nonsyndromic deafness 70 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching -DOID:0110593 autosomal dominant nonsyndromic deafness 9 oboInOwl:hasDbXref OMIM:601369 semapv:UnspecifiedMatching +DOID:0110592 autosomal dominant nonsyndromic deafness 70 oboInOwl:hasDbXref OMIM:616968 semapv:UnspecifiedMatching DOID:0110593 autosomal dominant nonsyndromic deafness 9 oboInOwl:hasDbXref ICD10CM:H90.3 semapv:UnspecifiedMatching +DOID:0110593 autosomal dominant nonsyndromic deafness 9 oboInOwl:hasDbXref OMIM:601369 semapv:UnspecifiedMatching DOID:0110594 primary ciliary dyskinesia 1 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110594 primary ciliary dyskinesia 1 oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching DOID:0110595 Stromme syndrome oboInOwl:hasDbXref ICD10CM:Q87.8 semapv:UnspecifiedMatching @@ -8085,12 +8111,12 @@ DOID:0110597 primary ciliary dyskinesia 22 oboInOwl:hasDbXref ICD10CM:Q34.8 sema DOID:0110597 primary ciliary dyskinesia 22 oboInOwl:hasDbXref OMIM:615444 semapv:UnspecifiedMatching DOID:0110598 primary ciliary dyskinesia 14 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110598 primary ciliary dyskinesia 14 oboInOwl:hasDbXref OMIM:613807 semapv:UnspecifiedMatching -DOID:0110599 primary ciliary dyskinesia 3 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110599 primary ciliary dyskinesia 3 oboInOwl:hasDbXref OMIM:608644 semapv:UnspecifiedMatching -DOID:0110600 primary ciliary dyskinesia 29 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching +DOID:0110599 primary ciliary dyskinesia 3 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110600 primary ciliary dyskinesia 29 oboInOwl:hasDbXref OMIM:615872 semapv:UnspecifiedMatching -DOID:0110601 primary ciliary dyskinesia 12 oboInOwl:hasDbXref OMIM:612650 semapv:UnspecifiedMatching +DOID:0110600 primary ciliary dyskinesia 29 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110601 primary ciliary dyskinesia 12 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching +DOID:0110601 primary ciliary dyskinesia 12 oboInOwl:hasDbXref OMIM:612650 semapv:UnspecifiedMatching DOID:0110602 primary ciliary dyskinesia 11 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110602 primary ciliary dyskinesia 11 oboInOwl:hasDbXref OMIM:612649 semapv:UnspecifiedMatching DOID:0110603 primary ciliary dyskinesia 32 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching @@ -8103,8 +8129,8 @@ DOID:0110606 primary ciliary dyskinesia 6 oboInOwl:hasDbXref ICD10CM:Q34.8 semap DOID:0110606 primary ciliary dyskinesia 6 oboInOwl:hasDbXref OMIM:610852 semapv:UnspecifiedMatching DOID:0110607 primary ciliary dyskinesia 28 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110607 primary ciliary dyskinesia 28 oboInOwl:hasDbXref OMIM:615505 semapv:UnspecifiedMatching -DOID:0110608 primary ciliary dyskinesia 19 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110608 primary ciliary dyskinesia 19 oboInOwl:hasDbXref OMIM:614935 semapv:UnspecifiedMatching +DOID:0110608 primary ciliary dyskinesia 19 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110609 primary ciliary dyskinesia 23 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110609 primary ciliary dyskinesia 23 oboInOwl:hasDbXref OMIM:615451 semapv:UnspecifiedMatching DOID:0110610 primary ciliary dyskinesia 34 oboInOwl:hasDbXref OMIM:617091 semapv:UnspecifiedMatching @@ -8120,17 +8146,17 @@ DOID:0110615 primary ciliary dyskinesia 25 oboInOwl:hasDbXref ICD10CM:Q34.8 sema DOID:0110615 primary ciliary dyskinesia 25 oboInOwl:hasDbXref OMIM:615482 semapv:UnspecifiedMatching DOID:0110616 primary ciliary dyskinesia 8 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110616 primary ciliary dyskinesia 8 oboInOwl:hasDbXref OMIM:612274 semapv:UnspecifiedMatching -DOID:0110617 primary ciliary dyskinesia 5 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110617 primary ciliary dyskinesia 5 oboInOwl:hasDbXref OMIM:608647 semapv:UnspecifiedMatching -DOID:0110618 primary ciliary dyskinesia 13 oboInOwl:hasDbXref OMIM:613193 semapv:UnspecifiedMatching +DOID:0110617 primary ciliary dyskinesia 5 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110618 primary ciliary dyskinesia 13 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching +DOID:0110618 primary ciliary dyskinesia 13 oboInOwl:hasDbXref OMIM:613193 semapv:UnspecifiedMatching DOID:0110619 primary ciliary dyskinesia 33 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110619 primary ciliary dyskinesia 33 oboInOwl:hasDbXref OMIM:616726 semapv:UnspecifiedMatching DOID:0110620 primary ciliary dyskinesia 35 oboInOwl:hasDbXref OMIM:617092 semapv:UnspecifiedMatching DOID:0110621 primary ciliary dyskinesia 17 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110621 primary ciliary dyskinesia 17 oboInOwl:hasDbXref OMIM:614679 semapv:UnspecifiedMatching -DOID:0110622 primary ciliary dyskinesia 9 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110622 primary ciliary dyskinesia 9 oboInOwl:hasDbXref OMIM:612444 semapv:UnspecifiedMatching +DOID:0110622 primary ciliary dyskinesia 9 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110623 primary ciliary dyskinesia 15 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110623 primary ciliary dyskinesia 15 oboInOwl:hasDbXref OMIM:613808 semapv:UnspecifiedMatching DOID:0110624 primary ciliary dyskinesia 30 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching @@ -8139,8 +8165,8 @@ DOID:0110625 primary ciliary dyskinesia 20 oboInOwl:hasDbXref ICD10CM:Q34.8 sema DOID:0110625 primary ciliary dyskinesia 20 oboInOwl:hasDbXref OMIM:615067 semapv:UnspecifiedMatching DOID:0110626 primary ciliary dyskinesia 2 oboInOwl:hasDbXref OMIM:606763 semapv:UnspecifiedMatching DOID:0110626 primary ciliary dyskinesia 2 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching -DOID:0110627 primary ciliary dyskinesia 26 oboInOwl:hasDbXref OMIM:615500 semapv:UnspecifiedMatching DOID:0110627 primary ciliary dyskinesia 26 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching +DOID:0110627 primary ciliary dyskinesia 26 oboInOwl:hasDbXref OMIM:615500 semapv:UnspecifiedMatching DOID:0110628 primary ciliary dyskinesia 24 oboInOwl:hasDbXref ICD10CM:Q34.8 semapv:UnspecifiedMatching DOID:0110628 primary ciliary dyskinesia 24 oboInOwl:hasDbXref OMIM:615481 semapv:UnspecifiedMatching DOID:0110629 Wolfram syndrome 1 oboInOwl:hasDbXref ICD10CM:E13.8 semapv:UnspecifiedMatching @@ -8151,28 +8177,28 @@ DOID:0110630 Wolfram syndrome 2 oboInOwl:hasDbXref OMIM:604928 semapv:Unspecifie DOID:0110632 megaconial type congenital muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110632 megaconial type congenital muscular dystrophy oboInOwl:hasDbXref OMIM:602541 semapv:UnspecifiedMatching DOID:0110632 megaconial type congenital muscular dystrophy oboInOwl:hasDbXref ORDO:280671 semapv:UnspecifiedMatching -DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:97244 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:84132 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:324604 semapv:UnspecifiedMatching +DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ORDO:97244 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref OMIM:602771 semapv:UnspecifiedMatching -DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ICD10CM:G71.8 semapv:UnspecifiedMatching -DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref GARD:4723 semapv:UnspecifiedMatching +DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ICD10CM:G71.8 semapv:UnspecifiedMatching DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref MESH:C535683 semapv:UnspecifiedMatching +DOID:0110633 rigid spine muscular dystrophy 1 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110634 congenital muscular dystrophy 1B oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110634 congenital muscular dystrophy 1B oboInOwl:hasDbXref OMIM:604801 semapv:UnspecifiedMatching DOID:0110634 congenital muscular dystrophy 1B oboInOwl:hasDbXref ORDO:98893 semapv:UnspecifiedMatching DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 oboInOwl:hasDbXref ORDO:52428 semapv:UnspecifiedMatching -DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref UMLS_CUI:C1263858 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref MESH:C537384 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref NCI:C118783 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref OMIM:607855 semapv:UnspecifiedMatching DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref ORDO:258 semapv:UnspecifiedMatching +DOID:0110636 congenital merosin-deficient muscular dystrophy 1A oboInOwl:hasDbXref UMLS_CUI:C1263858 semapv:UnspecifiedMatching +DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref ORDO:98894 semapv:UnspecifiedMatching DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching -DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching DOID:0110638 congenital muscular dystrophy merosin-positive oboInOwl:hasDbXref OMIM:609456 semapv:UnspecifiedMatching DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency oboInOwl:hasDbXref ICD10CM:G71.2 semapv:UnspecifiedMatching DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 semapv:UnspecifiedMatching @@ -8183,10 +8209,10 @@ DOID:0110640 congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXr DOID:0110644 long QT syndrome 1 oboInOwl:hasDbXref GARD:3284 semapv:UnspecifiedMatching DOID:0110644 long QT syndrome 1 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110644 long QT syndrome 1 oboInOwl:hasDbXref OMIM:192500 semapv:UnspecifiedMatching -DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref MESH:C563614 semapv:UnspecifiedMatching -DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref GARD:3285 semapv:UnspecifiedMatching +DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref OMIM:613688 semapv:UnspecifiedMatching DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching +DOID:0110645 long QT syndrome 2 oboInOwl:hasDbXref GARD:3285 semapv:UnspecifiedMatching DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref GARD:3286 semapv:UnspecifiedMatching DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110646 long QT syndrome 3 oboInOwl:hasDbXref MESH:C565840 semapv:UnspecifiedMatching @@ -8207,19 +8233,19 @@ DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref GARD:10436 semapv:Unspecifie DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref MESH:C567514 semapv:UnspecifiedMatching DOID:0110651 long QT syndrome 10 oboInOwl:hasDbXref OMIM:611819 semapv:UnspecifiedMatching +DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref MESH:C567513 semapv:UnspecifiedMatching DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref GARD:10437 semapv:UnspecifiedMatching DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching -DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref MESH:C567513 semapv:UnspecifiedMatching DOID:0110652 long QT syndrome 11 oboInOwl:hasDbXref OMIM:611820 semapv:UnspecifiedMatching -DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref MESH:C567842 semapv:UnspecifiedMatching +DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110653 long QT syndrome 12 oboInOwl:hasDbXref OMIM:612955 semapv:UnspecifiedMatching -DOID:0110654 long QT syndrome 13 oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching DOID:0110654 long QT syndrome 13 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching +DOID:0110654 long QT syndrome 13 oboInOwl:hasDbXref OMIM:613485 semapv:UnspecifiedMatching DOID:0110655 long QT syndrome 14 oboInOwl:hasDbXref OMIM:616247 semapv:UnspecifiedMatching DOID:0110655 long QT syndrome 14 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching -DOID:0110656 long QT syndrome 15 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110656 long QT syndrome 15 oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching +DOID:0110656 long QT syndrome 15 oboInOwl:hasDbXref ICD10CM:I45.8 semapv:UnspecifiedMatching DOID:0110657 congenital myasthenic syndrome 8 oboInOwl:hasDbXref OMIM:615120 semapv:UnspecifiedMatching DOID:0110658 congenital myasthenic syndrome 15 oboInOwl:hasDbXref OMIM:616227 semapv:UnspecifiedMatching DOID:0110659 congenital myasthenic syndrome 7 oboInOwl:hasDbXref OMIM:616040 semapv:UnspecifiedMatching @@ -8305,10 +8331,10 @@ DOID:0110726 neuronal ceroid lipofuscinosis 2 oboInOwl:hasDbXref ICD10CM:E75.4 s DOID:0110727 neuronal ceroid lipofuscinosis 13 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110727 neuronal ceroid lipofuscinosis 13 oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching DOID:0110727 neuronal ceroid lipofuscinosis 13 oboInOwl:hasDbXref ORDO:352709 semapv:UnspecifiedMatching -DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref GARD:1223 semapv:UnspecifiedMatching -DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref OMIM:256731 semapv:UnspecifiedMatching DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref ORDO:228360 semapv:UnspecifiedMatching +DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref GARD:1223 semapv:UnspecifiedMatching +DOID:0110728 neuronal ceroid lipofuscinosis 5 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref GARD:1224 semapv:UnspecifiedMatching DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110729 neuronal ceroid lipofuscinosis 6A oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching @@ -8318,8 +8344,8 @@ DOID:0110730 neuronal ceroid lipofuscinosis 6B oboInOwl:hasDbXref OMIM:204300 se DOID:0110730 neuronal ceroid lipofuscinosis 6B oboInOwl:hasDbXref ORDO:228340 semapv:UnspecifiedMatching DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref ORDO:228346 semapv:UnspecifiedMatching DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching -DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref GARD:5897 semapv:UnspecifiedMatching +DOID:0110731 neuronal ceroid lipofuscinosis 3 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110732 neuronal ceroid lipofuscinosis 11 oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:0110732 neuronal ceroid lipofuscinosis 11 oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching DOID:0110732 neuronal ceroid lipofuscinosis 11 oboInOwl:hasDbXref ORDO:314629 semapv:UnspecifiedMatching @@ -8333,20 +8359,20 @@ DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref M DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref OMIMPS:234200 semapv:UnspecifiedMatching DOID:0110734 neurodegeneration with brain iron accumulation oboInOwl:hasDbXref ORDO:385 semapv:UnspecifiedMatching DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref OMIM:256600 semapv:UnspecifiedMatching -DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref GARD:2751 semapv:UnspecifiedMatching DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching +DOID:0110735 neurodegeneration with brain iron accumulation 2a oboInOwl:hasDbXref GARD:2751 semapv:UnspecifiedMatching DOID:0110736 neurodegeneration with brain iron accumulation 2b oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:0110736 neurodegeneration with brain iron accumulation 2b oboInOwl:hasDbXref OMIM:610217 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref MESH:C548080 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref OMIM:606159 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref ORDO:157846 semapv:UnspecifiedMatching DOID:0110737 neurodegeneration with brain iron accumulation 3 oboInOwl:hasDbXref UMLS_CUI:C1853578 semapv:UnspecifiedMatching +DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref ORDO:289560 semapv:UnspecifiedMatching DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref OMIM:614298 semapv:UnspecifiedMatching -DOID:0110738 neurodegeneration with brain iron accumulation 4 oboInOwl:hasDbXref ORDO:289560 semapv:UnspecifiedMatching -DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref OMIM:300894 semapv:UnspecifiedMatching DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref ORDO:329284 semapv:UnspecifiedMatching +DOID:0110739 neurodegeneration with brain iron accumulation 5 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching DOID:0110740 neurodegeneration with brain iron accumulation 6 oboInOwl:hasDbXref ORDO:397725 semapv:UnspecifiedMatching DOID:0110740 neurodegeneration with brain iron accumulation 6 oboInOwl:hasDbXref OMIM:615643 semapv:UnspecifiedMatching DOID:0110740 neurodegeneration with brain iron accumulation 6 oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching @@ -8362,11 +8388,11 @@ DOID:0110745 type 1 diabetes mellitus 6 oboInOwl:hasDbXref ICD10CM:E10 semapv:Un DOID:0110745 type 1 diabetes mellitus 6 oboInOwl:hasDbXref OMIM:601941 semapv:UnspecifiedMatching DOID:0110746 type 1 diabetes mellitus 7 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110746 type 1 diabetes mellitus 7 oboInOwl:hasDbXref OMIM:600321 semapv:UnspecifiedMatching -DOID:0110747 type 1 diabetes mellitus 8 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110747 type 1 diabetes mellitus 8 oboInOwl:hasDbXref OMIM:600883 semapv:UnspecifiedMatching +DOID:0110747 type 1 diabetes mellitus 8 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110748 obsolete type 1 diabetes mellitus 9 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:0110749 type 1 diabetes mellitus 10 oboInOwl:hasDbXref OMIM:601942 semapv:UnspecifiedMatching DOID:0110749 type 1 diabetes mellitus 10 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching +DOID:0110749 type 1 diabetes mellitus 10 oboInOwl:hasDbXref OMIM:601942 semapv:UnspecifiedMatching DOID:0110750 type 1 diabetes mellitus 11 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110750 type 1 diabetes mellitus 11 oboInOwl:hasDbXref OMIM:601208 semapv:UnspecifiedMatching DOID:0110751 type 1 diabetes mellitus 12 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching @@ -8379,16 +8405,16 @@ DOID:0110754 type 1 diabetes mellitus 17 oboInOwl:hasDbXref ICD10CM:E10 semapv:U DOID:0110754 type 1 diabetes mellitus 17 oboInOwl:hasDbXref OMIM:603266 semapv:UnspecifiedMatching DOID:0110755 type 1 diabetes mellitus 18 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110755 type 1 diabetes mellitus 18 oboInOwl:hasDbXref OMIM:605598 semapv:UnspecifiedMatching -DOID:0110756 type 1 diabetes mellitus 19 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110756 type 1 diabetes mellitus 19 oboInOwl:hasDbXref OMIM:610155 semapv:UnspecifiedMatching -DOID:0110757 type 1 diabetes mellitus 20 oboInOwl:hasDbXref OMIM:612520 semapv:UnspecifiedMatching +DOID:0110756 type 1 diabetes mellitus 19 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110757 type 1 diabetes mellitus 20 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching +DOID:0110757 type 1 diabetes mellitus 20 oboInOwl:hasDbXref OMIM:612520 semapv:UnspecifiedMatching DOID:0110758 type 1 diabetes mellitus 21 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110758 type 1 diabetes mellitus 21 oboInOwl:hasDbXref OMIM:612521 semapv:UnspecifiedMatching DOID:0110759 type 1 diabetes mellitus 22 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110759 type 1 diabetes mellitus 22 oboInOwl:hasDbXref OMIM:612522 semapv:UnspecifiedMatching -DOID:0110760 type 1 diabetes mellitus 23 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110760 type 1 diabetes mellitus 23 oboInOwl:hasDbXref OMIM:612622 semapv:UnspecifiedMatching +DOID:0110760 type 1 diabetes mellitus 23 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110761 type 1 diabetes mellitus 24 oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching DOID:0110761 type 1 diabetes mellitus 24 oboInOwl:hasDbXref OMIM:613006 semapv:UnspecifiedMatching DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref GARD:9590 semapv:UnspecifiedMatching @@ -8396,9 +8422,9 @@ DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref ICD10CM:G11.4 s DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref OMIM:604187 semapv:UnspecifiedMatching DOID:0110763 hereditary spastic paraplegia 10 oboInOwl:hasDbXref ORDO:100991 semapv:UnspecifiedMatching DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref ORDO:2822 semapv:UnspecifiedMatching -DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref OMIM:604360 semapv:UnspecifiedMatching -DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref GARD:4919 semapv:UnspecifiedMatching DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref GARD:4919 semapv:UnspecifiedMatching +DOID:0110764 hereditary spastic paraplegia 11 oboInOwl:hasDbXref OMIM:604360 semapv:UnspecifiedMatching DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref GARD:9586 semapv:UnspecifiedMatching DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110765 hereditary spastic paraplegia 12 oboInOwl:hasDbXref OMIM:604805 semapv:UnspecifiedMatching @@ -8407,10 +8433,10 @@ DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref GARD:9616 semap DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref OMIM:605280 semapv:UnspecifiedMatching DOID:0110766 hereditary spastic paraplegia 13 oboInOwl:hasDbXref ORDO:100994 semapv:UnspecifiedMatching -DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref ORDO:100995 semapv:UnspecifiedMatching +DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref OMIM:605229 semapv:UnspecifiedMatching DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref GARD:9589 semapv:UnspecifiedMatching DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref OMIM:605229 semapv:UnspecifiedMatching +DOID:0110767 hereditary spastic paraplegia 14 oboInOwl:hasDbXref ORDO:100995 semapv:UnspecifiedMatching DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref ORDO:100996 semapv:UnspecifiedMatching DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref OMIM:270700 semapv:UnspecifiedMatching DOID:0110768 hereditary spastic paraplegia 15 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching @@ -8419,18 +8445,18 @@ DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref GARD:9585 semap DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref OMIM:300266 semapv:UnspecifiedMatching DOID:0110769 hereditary spastic paraplegia 16 oboInOwl:hasDbXref ORDO:100997 semapv:UnspecifiedMatching -DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref ORDO:100998 semapv:UnspecifiedMatching DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref GARD:4219 semapv:UnspecifiedMatching DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref OMIM:270685 semapv:UnspecifiedMatching -DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref OMIM:611225 semapv:UnspecifiedMatching -DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref ORDO:209951 semapv:UnspecifiedMatching +DOID:0110770 hereditary spastic paraplegia 17 oboInOwl:hasDbXref ORDO:100998 semapv:UnspecifiedMatching DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref GARD:4922 semapv:UnspecifiedMatching DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref OMIM:607152 semapv:UnspecifiedMatching +DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref OMIM:611225 semapv:UnspecifiedMatching +DOID:0110771 hereditary spastic paraplegia 18 oboInOwl:hasDbXref ORDO:209951 semapv:UnspecifiedMatching DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref ORDO:100999 semapv:UnspecifiedMatching -DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref GARD:9588 semapv:UnspecifiedMatching +DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref OMIM:607152 semapv:UnspecifiedMatching DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110772 hereditary spastic paraplegia 19 oboInOwl:hasDbXref GARD:9588 semapv:UnspecifiedMatching DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref GARD:4923 semapv:UnspecifiedMatching DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110773 hereditary spastic paraplegia 2 oboInOwl:hasDbXref OMIM:312920 semapv:UnspecifiedMatching @@ -8443,27 +8469,27 @@ DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref GARD:9296 semap DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref OMIM:607584 semapv:UnspecifiedMatching DOID:0110775 hereditary spastic paraplegia 24 oboInOwl:hasDbXref ORDO:101004 semapv:UnspecifiedMatching -DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref ORDO:101005 semapv:UnspecifiedMatching DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref OMIM:608220 semapv:UnspecifiedMatching DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref GARD:9582 semapv:UnspecifiedMatching +DOID:0110776 hereditary spastic paraplegia 25 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref GARD:9587 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref OMIM:609195 semapv:UnspecifiedMatching DOID:0110777 hereditary spastic paraplegia 26 oboInOwl:hasDbXref ORDO:101006 semapv:UnspecifiedMatching +DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref OMIM:609041 semapv:UnspecifiedMatching DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref ORDO:101007 semapv:UnspecifiedMatching -DOID:0110778 hereditary spastic paraplegia 27 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110779 hereditary spastic paraplegia 28 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110779 hereditary spastic paraplegia 28 oboInOwl:hasDbXref OMIM:609340 semapv:UnspecifiedMatching DOID:0110779 hereditary spastic paraplegia 28 oboInOwl:hasDbXref ORDO:101008 semapv:UnspecifiedMatching +DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref ORDO:101009 semapv:UnspecifiedMatching +DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref OMIM:609727 semapv:UnspecifiedMatching DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref GARD:9729 semapv:UnspecifiedMatching DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref OMIM:609727 semapv:UnspecifiedMatching -DOID:0110780 hereditary spastic paraplegia 29 oboInOwl:hasDbXref ORDO:101009 semapv:UnspecifiedMatching -DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref ORDO:101010 semapv:UnspecifiedMatching DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref OMIM:610357 semapv:UnspecifiedMatching +DOID:0110781 hereditary spastic paraplegia 30 oboInOwl:hasDbXref ORDO:101010 semapv:UnspecifiedMatching DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref GARD:10817 semapv:UnspecifiedMatching DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110782 hereditary spastic paraplegia 31 oboInOwl:hasDbXref OMIM:610250 semapv:UnspecifiedMatching @@ -8473,12 +8499,12 @@ DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref ICD10CM:G11.4 s DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref OMIM:611252 semapv:UnspecifiedMatching DOID:0110783 hereditary spastic paraplegia 32 oboInOwl:hasDbXref ORDO:171622 semapv:UnspecifiedMatching DOID:0110784 hereditary spastic paraplegia 33 oboInOwl:hasDbXref OMIM:610244 semapv:UnspecifiedMatching -DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref OMIM:300750 semapv:UnspecifiedMatching DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref ORDO:171607 semapv:UnspecifiedMatching +DOID:0110785 hereditary spastic paraplegia 34 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref ORDO:171629 semapv:UnspecifiedMatching -DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110786 hereditary spastic paraplegia 35 oboInOwl:hasDbXref OMIM:612319 semapv:UnspecifiedMatching DOID:0110787 hereditary spastic paraplegia 36 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110787 hereditary spastic paraplegia 36 oboInOwl:hasDbXref OMIM:613096 semapv:UnspecifiedMatching DOID:0110787 hereditary spastic paraplegia 36 oboInOwl:hasDbXref ORDO:320365 semapv:UnspecifiedMatching @@ -8494,8 +8520,8 @@ DOID:0110790 hereditary spastic paraplegia 39 oboInOwl:hasDbXref OMIM:612020 sem DOID:0110790 hereditary spastic paraplegia 39 oboInOwl:hasDbXref ORDO:139480 semapv:UnspecifiedMatching DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref ORDO:100984 semapv:UnspecifiedMatching DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref OMIM:182600 semapv:UnspecifiedMatching -DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref GARD:5041 semapv:UnspecifiedMatching DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110791 hereditary spastic paraplegia 3A oboInOwl:hasDbXref GARD:5041 semapv:UnspecifiedMatching DOID:0110792 hereditary spastic paraplegia 4 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110792 hereditary spastic paraplegia 4 oboInOwl:hasDbXref OMIM:182601 semapv:UnspecifiedMatching DOID:0110792 hereditary spastic paraplegia 4 oboInOwl:hasDbXref ORDO:100985 semapv:UnspecifiedMatching @@ -8538,12 +8564,12 @@ DOID:0110805 hereditary spastic paraplegia 53 oboInOwl:hasDbXref ORDO:319199 sem DOID:0110806 hereditary spastic paraplegia 54 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110806 hereditary spastic paraplegia 54 oboInOwl:hasDbXref OMIM:615033 semapv:UnspecifiedMatching DOID:0110806 hereditary spastic paraplegia 54 oboInOwl:hasDbXref ORDO:320380 semapv:UnspecifiedMatching -DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref ORDO:320375 semapv:UnspecifiedMatching DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref ORDO:320375 semapv:UnspecifiedMatching DOID:0110807 hereditary spastic paraplegia 55 oboInOwl:hasDbXref OMIM:615035 semapv:UnspecifiedMatching DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref ORDO:320411 semapv:UnspecifiedMatching -DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref OMIM:615030 semapv:UnspecifiedMatching +DOID:0110808 hereditary spastic paraplegia 56 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110809 hereditary spastic paraplegia 57 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110809 hereditary spastic paraplegia 57 oboInOwl:hasDbXref OMIM:615658 semapv:UnspecifiedMatching DOID:0110809 hereditary spastic paraplegia 57 oboInOwl:hasDbXref ORDO:431329 semapv:UnspecifiedMatching @@ -8551,15 +8577,15 @@ DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref GARD:4926 semap DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref OMIM:270800 semapv:UnspecifiedMatching DOID:0110810 hereditary spastic paraplegia 5A oboInOwl:hasDbXref ORDO:100986 semapv:UnspecifiedMatching -DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref ORDO:100988 semapv:UnspecifiedMatching DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref OMIM:600363 semapv:UnspecifiedMatching +DOID:0110811 hereditary spastic paraplegia 6 oboInOwl:hasDbXref ORDO:100988 semapv:UnspecifiedMatching +DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref OMIM:615685 semapv:UnspecifiedMatching DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref ORDO:401780 semapv:UnspecifiedMatching -DOID:0110812 hereditary spastic paraplegia 61 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref ORDO:401785 semapv:UnspecifiedMatching -DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref OMIM:615681 semapv:UnspecifiedMatching DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110813 hereditary spastic paraplegia 62 oboInOwl:hasDbXref OMIM:615681 semapv:UnspecifiedMatching DOID:0110814 hereditary spastic paraplegia 63 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110814 hereditary spastic paraplegia 63 oboInOwl:hasDbXref OMIM:615686 semapv:UnspecifiedMatching DOID:0110814 hereditary spastic paraplegia 63 oboInOwl:hasDbXref ORDO:401805 semapv:UnspecifiedMatching @@ -8569,12 +8595,12 @@ DOID:0110815 hereditary spastic paraplegia 64 oboInOwl:hasDbXref ORDO:401810 sem DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref OMIM:607259 semapv:UnspecifiedMatching DOID:0110816 hereditary spastic paraplegia 7 oboInOwl:hasDbXref ORDO:99013 semapv:UnspecifiedMatching +DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref ORDO:401849 semapv:UnspecifiedMatching DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref OMIM:615625 semapv:UnspecifiedMatching -DOID:0110817 hereditary spastic paraplegia 72 oboInOwl:hasDbXref ORDO:401849 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref ORDO:444099 semapv:UnspecifiedMatching -DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:0110818 hereditary spastic paraplegia 73 oboInOwl:hasDbXref OMIM:616282 semapv:UnspecifiedMatching DOID:0110819 hereditary spastic paraplegia 74 oboInOwl:hasDbXref OMIM:616451 semapv:UnspecifiedMatching DOID:0110819 hereditary spastic paraplegia 74 oboInOwl:hasDbXref ORDO:468661 semapv:UnspecifiedMatching DOID:0110820 hereditary spastic paraplegia 75 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching @@ -8584,23 +8610,23 @@ DOID:0110821 hereditary spastic paraplegia 76 oboInOwl:hasDbXref OMIM:616907 sem DOID:0110822 hereditary spastic paraplegia 77 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110822 hereditary spastic paraplegia 77 oboInOwl:hasDbXref OMIM:617046 semapv:UnspecifiedMatching DOID:0110822 hereditary spastic paraplegia 77 oboInOwl:hasDbXref ORDO:466722 semapv:UnspecifiedMatching -DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref GARD:9591 semapv:UnspecifiedMatching -DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref OMIM:603563 semapv:UnspecifiedMatching DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref ORDO:100989 semapv:UnspecifiedMatching -DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ORDO:447753 semapv:UnspecifiedMatching -DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ORDO:100990 semapv:UnspecifiedMatching +DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref GARD:9591 semapv:UnspecifiedMatching +DOID:0110823 hereditary spastic paraplegia 8 oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref OMIM:601162 semapv:UnspecifiedMatching +DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ORDO:100990 semapv:UnspecifiedMatching +DOID:0110824 hereditary spastic paraplegia 9A oboInOwl:hasDbXref ORDO:447753 semapv:UnspecifiedMatching +DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref ORDO:447760 semapv:UnspecifiedMatching DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref OMIM:616586 semapv:UnspecifiedMatching -DOID:0110825 hereditary spastic paraplegia 9B oboInOwl:hasDbXref ORDO:447760 semapv:UnspecifiedMatching -DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref OMIM:276900 semapv:UnspecifiedMatching DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref ORDO:231169 semapv:UnspecifiedMatching -DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching +DOID:0110826 Usher syndrome type 1 oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref NCI:C126328 semapv:UnspecifiedMatching DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref ORDO:231178 semapv:UnspecifiedMatching +DOID:0110827 Usher syndrome type 2 oboInOwl:hasDbXref MESH:D052245 semapv:UnspecifiedMatching DOID:0110828 Usher syndrome type 3 oboInOwl:hasDbXref NCI:C126329 semapv:UnspecifiedMatching DOID:0110828 Usher syndrome type 3 oboInOwl:hasDbXref ORDO:231183 semapv:UnspecifiedMatching DOID:0110828 Usher syndrome type 3 oboInOwl:hasDbXref GARD:5442 semapv:UnspecifiedMatching @@ -8619,12 +8645,12 @@ DOID:0110832 Usher syndrome type 1F oboInOwl:hasDbXref ICD10CM:H35.5 semapv:Unsp DOID:0110832 Usher syndrome type 1F oboInOwl:hasDbXref OMIM:602083 semapv:UnspecifiedMatching DOID:0110833 Usher syndrome type 1E oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110833 Usher syndrome type 1E oboInOwl:hasDbXref OMIM:602097 semapv:UnspecifiedMatching -DOID:0110834 Usher syndrome type 1G oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching DOID:0110834 Usher syndrome type 1G oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110835 Usher syndrome type 1H oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching +DOID:0110834 Usher syndrome type 1G oboInOwl:hasDbXref OMIM:606943 semapv:UnspecifiedMatching DOID:0110835 Usher syndrome type 1H oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110836 Usher syndrome type 1J oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching +DOID:0110835 Usher syndrome type 1H oboInOwl:hasDbXref OMIM:612632 semapv:UnspecifiedMatching DOID:0110836 Usher syndrome type 1J oboInOwl:hasDbXref OMIM:614869 semapv:UnspecifiedMatching +DOID:0110836 Usher syndrome type 1J oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110837 Usher syndrome type 1K oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110837 Usher syndrome type 1K oboInOwl:hasDbXref OMIM:614990 semapv:UnspecifiedMatching DOID:0110838 Usher syndrome type 2A oboInOwl:hasDbXref GARD:5440 semapv:UnspecifiedMatching @@ -8636,10 +8662,10 @@ DOID:0110840 Usher syndrome type 2D oboInOwl:hasDbXref ICD10CM:H35.5 semapv:Unsp DOID:0110840 Usher syndrome type 2D oboInOwl:hasDbXref OMIM:611383 semapv:UnspecifiedMatching DOID:0110841 Usher syndrome type 3A oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:0110841 Usher syndrome type 3A oboInOwl:hasDbXref OMIM:276902 semapv:UnspecifiedMatching -DOID:0110842 Usher syndrome type 3B oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching DOID:0110842 Usher syndrome type 3B oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching -DOID:0110843 xeroderma pigmentosum group A oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching +DOID:0110842 Usher syndrome type 3B oboInOwl:hasDbXref OMIM:614504 semapv:UnspecifiedMatching DOID:0110843 xeroderma pigmentosum group A oboInOwl:hasDbXref OMIM:278700 semapv:UnspecifiedMatching +DOID:0110843 xeroderma pigmentosum group A oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching DOID:0110844 xeroderma pigmentosum group C oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching DOID:0110844 xeroderma pigmentosum group C oboInOwl:hasDbXref OMIM:278720 semapv:UnspecifiedMatching DOID:0110845 xeroderma pigmentosum group D oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching @@ -8650,8 +8676,8 @@ DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref GARD:5630 sem DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref MESH:C536766 semapv:UnspecifiedMatching DOID:0110847 xeroderma pigmentosum variant type oboInOwl:hasDbXref OMIM:278750 semapv:UnspecifiedMatching -DOID:0110848 xeroderma pigmentosum group F oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching DOID:0110848 xeroderma pigmentosum group F oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching +DOID:0110848 xeroderma pigmentosum group F oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching DOID:0110849 xeroderma pigmentosum group G oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching DOID:0110849 xeroderma pigmentosum group G oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching DOID:0110850 xeroderma pigmentosum group B oboInOwl:hasDbXref ICD10CM:Q82.1 semapv:UnspecifiedMatching @@ -8665,11 +8691,11 @@ DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref MESH DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref OMIM:222765 semapv:UnspecifiedMatching DOID:0110852 rhizomelic chondrodysplasia punctata type 2 oboInOwl:hasDbXref ORDO:309796 semapv:UnspecifiedMatching DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref OMIM:600121 semapv:UnspecifiedMatching -DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ORDO:309803 semapv:UnspecifiedMatching DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref MESH:C537608 semapv:UnspecifiedMatching -DOID:0110854 rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching +DOID:0110853 rhizomelic chondrodysplasia punctata type 3 oboInOwl:hasDbXref ORDO:309803 semapv:UnspecifiedMatching DOID:0110854 rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ORDO:468717 semapv:UnspecifiedMatching +DOID:0110854 rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching DOID:0110855 posterior polymorphous corneal dystrophy 1 oboInOwl:hasDbXref ICD10CM:H18.50 semapv:UnspecifiedMatching DOID:0110855 posterior polymorphous corneal dystrophy 1 oboInOwl:hasDbXref OMIM:122000 semapv:UnspecifiedMatching DOID:0110856 posterior polymorphous corneal dystrophy 2 oboInOwl:hasDbXref ICD10CM:H18.50 semapv:UnspecifiedMatching @@ -8679,8 +8705,8 @@ DOID:0110857 posterior polymorphous corneal dystrophy 3 oboInOwl:hasDbXref OMIM: DOID:0110858 polycystic kidney disease 1 oboInOwl:hasDbXref OMIM:173900 semapv:UnspecifiedMatching DOID:0110859 polycystic kidney disease 2 oboInOwl:hasDbXref OMIM:613095 semapv:UnspecifiedMatching DOID:0110860 polycystic kidney disease 3 oboInOwl:hasDbXref OMIM:600666 semapv:UnspecifiedMatching -DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ORDO:731 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0085548 semapv:UnspecifiedMatching +DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ORDO:731 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref NCI:C84579 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref OMIM:263200 semapv:UnspecifiedMatching DOID:0110861 autosomal recessive polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.14 semapv:UnspecifiedMatching @@ -8697,10 +8723,10 @@ DOID:0110868 congenital stationary night blindness 1D oboInOwl:hasDbXref OMIM:61 DOID:0110869 congenital stationary night blindness 1E oboInOwl:hasDbXref OMIM:614565 semapv:UnspecifiedMatching DOID:0110870 congenital stationary night blindness 1A oboInOwl:hasDbXref OMIM:310500 semapv:UnspecifiedMatching DOID:0110871 congenital stationary night blindness 2A oboInOwl:hasDbXref OMIM:300071 semapv:UnspecifiedMatching -DOID:0110872 holoprosencephaly 2 oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching DOID:0110872 holoprosencephaly 2 oboInOwl:hasDbXref MESH:C563579 semapv:UnspecifiedMatching -DOID:0110873 holoprosencephaly 9 oboInOwl:hasDbXref MESH:C563659 semapv:UnspecifiedMatching +DOID:0110872 holoprosencephaly 2 oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching DOID:0110873 holoprosencephaly 9 oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +DOID:0110873 holoprosencephaly 9 oboInOwl:hasDbXref MESH:C563659 semapv:UnspecifiedMatching DOID:0110874 holoprosencephaly 6 oboInOwl:hasDbXref MESH:C565274 semapv:UnspecifiedMatching DOID:0110874 holoprosencephaly 6 oboInOwl:hasDbXref OMIM:605934 semapv:UnspecifiedMatching DOID:0110875 holoprosencephaly 3 oboInOwl:hasDbXref MESH:C564181 semapv:UnspecifiedMatching @@ -8729,12 +8755,12 @@ DOID:0110887 inflammatory bowel disease 12 oboInOwl:hasDbXref MESH:C567388 semap DOID:0110887 inflammatory bowel disease 12 oboInOwl:hasDbXref OMIM:612241 semapv:UnspecifiedMatching DOID:0110888 inflammatory bowel disease 18 oboInOwl:hasDbXref MESH:C567377 semapv:UnspecifiedMatching DOID:0110888 inflammatory bowel disease 18 oboInOwl:hasDbXref OMIM:612262 semapv:UnspecifiedMatching -DOID:0110889 inflammatory bowel disease 5 oboInOwl:hasDbXref OMIM:606348 semapv:UnspecifiedMatching DOID:0110889 inflammatory bowel disease 5 oboInOwl:hasDbXref MESH:C565234 semapv:UnspecifiedMatching -DOID:0110890 inflammatory bowel disease 19 oboInOwl:hasDbXref MESH:C567372 semapv:UnspecifiedMatching +DOID:0110889 inflammatory bowel disease 5 oboInOwl:hasDbXref OMIM:606348 semapv:UnspecifiedMatching DOID:0110890 inflammatory bowel disease 19 oboInOwl:hasDbXref OMIM:612278 semapv:UnspecifiedMatching -DOID:0110891 inflammatory bowel disease 3 oboInOwl:hasDbXref MESH:C565764 semapv:UnspecifiedMatching +DOID:0110890 inflammatory bowel disease 19 oboInOwl:hasDbXref MESH:C567372 semapv:UnspecifiedMatching DOID:0110891 inflammatory bowel disease 3 oboInOwl:hasDbXref OMIM:604519 semapv:UnspecifiedMatching +DOID:0110891 inflammatory bowel disease 3 oboInOwl:hasDbXref MESH:C565764 semapv:UnspecifiedMatching DOID:0110892 inflammatory bowel disease 1 oboInOwl:hasDbXref OMIM:266600 semapv:UnspecifiedMatching DOID:0110893 inflammatory bowel disease 13 oboInOwl:hasDbXref MESH:C567384 semapv:UnspecifiedMatching DOID:0110893 inflammatory bowel disease 13 oboInOwl:hasDbXref OMIM:612244 semapv:UnspecifiedMatching @@ -8749,8 +8775,8 @@ DOID:0110897 inflammatory bowel disease 15 oboInOwl:hasDbXref OMIM:612255 semapv DOID:0110898 inflammatory bowel disease 20 oboInOwl:hasDbXref MESH:C567361 semapv:UnspecifiedMatching DOID:0110898 inflammatory bowel disease 20 oboInOwl:hasDbXref OMIM:612288 semapv:UnspecifiedMatching DOID:0110899 inflammatory bowel disease 28 oboInOwl:hasDbXref OMIM:613148 semapv:UnspecifiedMatching -DOID:0110900 inflammatory bowel disease 2 oboInOwl:hasDbXref MESH:C563310 semapv:UnspecifiedMatching DOID:0110900 inflammatory bowel disease 2 oboInOwl:hasDbXref OMIM:601458 semapv:UnspecifiedMatching +DOID:0110900 inflammatory bowel disease 2 oboInOwl:hasDbXref MESH:C563310 semapv:UnspecifiedMatching DOID:0110901 inflammatory bowel disease 26 oboInOwl:hasDbXref MESH:C567217 semapv:UnspecifiedMatching DOID:0110901 inflammatory bowel disease 26 oboInOwl:hasDbXref OMIM:612639 semapv:UnspecifiedMatching DOID:0110902 inflammatory bowel disease 27 oboInOwl:hasDbXref MESH:C567559 semapv:UnspecifiedMatching @@ -8763,10 +8789,10 @@ DOID:0110905 inflammatory bowel disease 22 oboInOwl:hasDbXref MESH:C567327 semap DOID:0110905 inflammatory bowel disease 22 oboInOwl:hasDbXref OMIM:612380 semapv:UnspecifiedMatching DOID:0110906 inflammatory bowel disease 21 oboInOwl:hasDbXref MESH:C567338 semapv:UnspecifiedMatching DOID:0110906 inflammatory bowel disease 21 oboInOwl:hasDbXref OMIM:612354 semapv:UnspecifiedMatching -DOID:0110907 inflammatory bowel disease 6 oboInOwl:hasDbXref OMIM:606674 semapv:UnspecifiedMatching DOID:0110907 inflammatory bowel disease 6 oboInOwl:hasDbXref MESH:C564681 semapv:UnspecifiedMatching -DOID:0110908 inflammatory bowel disease 24 oboInOwl:hasDbXref MESH:C567252 semapv:UnspecifiedMatching +DOID:0110907 inflammatory bowel disease 6 oboInOwl:hasDbXref OMIM:606674 semapv:UnspecifiedMatching DOID:0110908 inflammatory bowel disease 24 oboInOwl:hasDbXref OMIM:612566 semapv:UnspecifiedMatching +DOID:0110908 inflammatory bowel disease 24 oboInOwl:hasDbXref MESH:C567252 semapv:UnspecifiedMatching DOID:0110909 inflammatory bowel disease 25 oboInOwl:hasDbXref OMIM:612567 semapv:UnspecifiedMatching DOID:0110910 leukocyte adhesion deficiency 1 oboInOwl:hasDbXref OMIM:116920 semapv:UnspecifiedMatching DOID:0110910 leukocyte adhesion deficiency 1 oboInOwl:hasDbXref ORDO:99842 semapv:UnspecifiedMatching @@ -8795,8 +8821,8 @@ DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 oboInOwl:hasDbXref OM DOID:0110926 nemaline myopathy 1 oboInOwl:hasDbXref MESH:C538348 semapv:UnspecifiedMatching DOID:0110926 nemaline myopathy 1 oboInOwl:hasDbXref OMIM:609284 semapv:UnspecifiedMatching DOID:0110927 nemaline myopathy 3 oboInOwl:hasDbXref OMIM:161800 semapv:UnspecifiedMatching -DOID:0110928 nemaline myopathy 2 oboInOwl:hasDbXref MESH:C538349 semapv:UnspecifiedMatching DOID:0110928 nemaline myopathy 2 oboInOwl:hasDbXref OMIM:256030 semapv:UnspecifiedMatching +DOID:0110928 nemaline myopathy 2 oboInOwl:hasDbXref MESH:C538349 semapv:UnspecifiedMatching DOID:0110929 nemaline myopathy 9 oboInOwl:hasDbXref OMIM:615731 semapv:UnspecifiedMatching DOID:0110930 nemaline myopathy 8 oboInOwl:hasDbXref OMIM:615348 semapv:UnspecifiedMatching DOID:0110931 nemaline myopathy 10 oboInOwl:hasDbXref OMIM:616165 semapv:UnspecifiedMatching @@ -8809,28 +8835,28 @@ DOID:0110935 nemaline myopathy 6 oboInOwl:hasDbXref MESH:C538398 semapv:Unspecif DOID:0110935 nemaline myopathy 6 oboInOwl:hasDbXref OMIM:609273 semapv:UnspecifiedMatching DOID:0110936 nemaline myopathy 5 oboInOwl:hasDbXref MESH:C538397 semapv:UnspecifiedMatching DOID:0110936 nemaline myopathy 5 oboInOwl:hasDbXref OMIM:605355 semapv:UnspecifiedMatching -DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref UMLS_CUI:C1843330 semapv:UnspecifiedMatching -DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref ORDO:2783 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref MESH:C536056 semapv:UnspecifiedMatching DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref OMIM:607634 semapv:UnspecifiedMatching +DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref ORDO:2783 semapv:UnspecifiedMatching +DOID:0110937 autosomal dominant osteopetrosis 1 oboInOwl:hasDbXref UMLS_CUI:C1843330 semapv:UnspecifiedMatching +DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref UMLS_CUI:C3179239 semapv:UnspecifiedMatching +DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref ORDO:53 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref GARD:383 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref OMIM:166600 semapv:UnspecifiedMatching -DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref ORDO:53 semapv:UnspecifiedMatching -DOID:0110938 autosomal dominant osteopetrosis 2 oboInOwl:hasDbXref UMLS_CUI:C3179239 semapv:UnspecifiedMatching DOID:0110939 autosomal recessive osteopetrosis 5 oboInOwl:hasDbXref GARD:4153 semapv:UnspecifiedMatching DOID:0110939 autosomal recessive osteopetrosis 5 oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching DOID:0110940 autosomal recessive osteopetrosis 8 oboInOwl:hasDbXref OMIM:615085 semapv:UnspecifiedMatching DOID:0110941 autosomal recessive osteopetrosis 3 oboInOwl:hasDbXref GARD:4154 semapv:UnspecifiedMatching DOID:0110941 autosomal recessive osteopetrosis 3 oboInOwl:hasDbXref OMIM:259730 semapv:UnspecifiedMatching -DOID:0110942 autosomal recessive osteopetrosis 1 oboInOwl:hasDbXref OMIM:259700 semapv:UnspecifiedMatching DOID:0110942 autosomal recessive osteopetrosis 1 oboInOwl:hasDbXref GARD:2579 semapv:UnspecifiedMatching -DOID:0110943 autosomal recessive osteopetrosis 2 oboInOwl:hasDbXref OMIM:259710 semapv:UnspecifiedMatching +DOID:0110942 autosomal recessive osteopetrosis 1 oboInOwl:hasDbXref OMIM:259700 semapv:UnspecifiedMatching DOID:0110943 autosomal recessive osteopetrosis 2 oboInOwl:hasDbXref GARD:4157 semapv:UnspecifiedMatching +DOID:0110943 autosomal recessive osteopetrosis 2 oboInOwl:hasDbXref OMIM:259710 semapv:UnspecifiedMatching DOID:0110944 autosomal recessive osteopetrosis 4 oboInOwl:hasDbXref GARD:5993 semapv:UnspecifiedMatching DOID:0110944 autosomal recessive osteopetrosis 4 oboInOwl:hasDbXref OMIM:611490 semapv:UnspecifiedMatching -DOID:0110945 autosomal recessive osteopetrosis 6 oboInOwl:hasDbXref GARD:4156 semapv:UnspecifiedMatching DOID:0110945 autosomal recessive osteopetrosis 6 oboInOwl:hasDbXref OMIM:611497 semapv:UnspecifiedMatching +DOID:0110945 autosomal recessive osteopetrosis 6 oboInOwl:hasDbXref GARD:4156 semapv:UnspecifiedMatching DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref GARD:10106 semapv:UnspecifiedMatching DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref OMIM:612301 semapv:UnspecifiedMatching @@ -8838,15 +8864,15 @@ DOID:0110946 autosomal recessive osteopetrosis 7 oboInOwl:hasDbXref ORDO:178389 DOID:0110947 Waardenburg syndrome type 2B oboInOwl:hasDbXref GARD:5522 semapv:UnspecifiedMatching DOID:0110947 Waardenburg syndrome type 2B oboInOwl:hasDbXref MESH:C536465 semapv:UnspecifiedMatching DOID:0110947 Waardenburg syndrome type 2B oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching -DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C1847800 semapv:UnspecifiedMatching -DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching -DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref ORDO:894 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref NCI:C75008 semapv:UnspecifiedMatching -DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref GARD:5523 semapv:UnspecifiedMatching -DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching -DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching +DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref OMIM:193500 semapv:UnspecifiedMatching +DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref ORDO:894 semapv:UnspecifiedMatching +DOID:0110948 Waardenburg syndrome type 1 oboInOwl:hasDbXref UMLS_CUI:C1847800 semapv:UnspecifiedMatching DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref ORDO:896 semapv:UnspecifiedMatching +DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref OMIM:148820 semapv:UnspecifiedMatching +DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref ICD10CM:E70.3 semapv:UnspecifiedMatching +DOID:0110949 Waardenburg syndrome type 3 oboInOwl:hasDbXref GARD:5523 semapv:UnspecifiedMatching DOID:0110950 Waardenburg syndrome type 2A oboInOwl:hasDbXref GARD:5521 semapv:UnspecifiedMatching DOID:0110950 Waardenburg syndrome type 2A oboInOwl:hasDbXref MESH:C536464 semapv:UnspecifiedMatching DOID:0110950 Waardenburg syndrome type 2A oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching @@ -8856,31 +8882,31 @@ DOID:0110953 Waardenburg syndrome type 4A oboInOwl:hasDbXref OMIM:277580 semapv: DOID:0110954 Waardenburg syndrome type 4B oboInOwl:hasDbXref OMIM:613265 semapv:UnspecifiedMatching DOID:0110955 Waardenburg syndrome type 4C oboInOwl:hasDbXref OMIM:613266 semapv:UnspecifiedMatching DOID:0110956 Waardenburg syndrome type 2E oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching -DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref ORDO:77259 semapv:UnspecifiedMatching DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref OMIM:230800 semapv:UnspecifiedMatching -DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching +DOID:0110957 Gaucher's disease type I oboInOwl:hasDbXref ORDO:77259 semapv:UnspecifiedMatching DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref OMIM:230900 semapv:UnspecifiedMatching DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref ORDO:77260 semapv:UnspecifiedMatching +DOID:0110958 Gaucher's disease type II oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching +DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref ORDO:77261 semapv:UnspecifiedMatching DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref OMIM:231000 semapv:UnspecifiedMatching -DOID:0110959 Gaucher's disease type III oboInOwl:hasDbXref ORDO:77261 semapv:UnspecifiedMatching -DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref ORDO:85212 semapv:UnspecifiedMatching DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref OMIM:608013 semapv:UnspecifiedMatching +DOID:0110960 Gaucher's disease perinatal lethal oboInOwl:hasDbXref ORDO:85212 semapv:UnspecifiedMatching +DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref OMIM:610539 semapv:UnspecifiedMatching DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref ORDO:309252 semapv:UnspecifiedMatching -DOID:0110961 atypical Gaucher's disease due to saposin c deficiency oboInOwl:hasDbXref ICD10CM:E75.2 semapv:UnspecifiedMatching +DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref OMIM:112450 semapv:UnspecifiedMatching DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ORDO:1278 semapv:UnspecifiedMatching -DOID:0110962 brachydactyly-preaxial hallux varus syndrome oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching +DOID:0110963 Ballard syndrome oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching DOID:0110963 Ballard syndrome oboInOwl:hasDbXref OMIM:112440 semapv:UnspecifiedMatching DOID:0110963 Ballard syndrome oboInOwl:hasDbXref ORDO:93395 semapv:UnspecifiedMatching -DOID:0110963 Ballard syndrome oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching +DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref ORDO:93388 semapv:UnspecifiedMatching +DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref OMIM:112500 semapv:UnspecifiedMatching DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref GARD:978 semapv:UnspecifiedMatching DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref MESH:C537088 semapv:UnspecifiedMatching -DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref OMIM:112500 semapv:UnspecifiedMatching -DOID:0110964 brachydactyly type A1 oboInOwl:hasDbXref ORDO:93388 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref GARD:979 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref MESH:C537089 semapv:UnspecifiedMatching DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref OMIM:112600 semapv:UnspecifiedMatching @@ -8889,22 +8915,22 @@ DOID:0110965 brachydactyly type A2 oboInOwl:hasDbXref UMLS_CUI:C1832702 semapv:U DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref GARD:963 semapv:UnspecifiedMatching DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref MESH:C537090 semapv:UnspecifiedMatching DOID:0110966 brachydactyly type A3 oboInOwl:hasDbXref OMIM:112700 semapv:UnspecifiedMatching -DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching -DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref ORDO:93394 semapv:UnspecifiedMatching DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref GARD:990 semapv:UnspecifiedMatching DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref ICD10CM:Q73.8 semapv:UnspecifiedMatching -DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref GARD:983 semapv:UnspecifiedMatching +DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching +DOID:0110967 brachydactyly type A4 oboInOwl:hasDbXref ORDO:93394 semapv:UnspecifiedMatching +DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref UMLS_CUI:C1862130 semapv:UnspecifiedMatching +DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref ORDO:93382 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref MESH:C537092 semapv:UnspecifiedMatching +DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref GARD:983 semapv:UnspecifiedMatching DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref OMIM:112910 semapv:UnspecifiedMatching -DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref ORDO:93382 semapv:UnspecifiedMatching -DOID:0110968 brachydactyly type A6 oboInOwl:hasDbXref UMLS_CUI:C1862130 semapv:UnspecifiedMatching DOID:0110969 brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS_CUI:C1862103 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS_CUI:C1300268 semapv:UnspecifiedMatching -DOID:0110970 brachydactyly type C oboInOwl:hasDbXref ORDO:93384 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref GARD:986 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:UnspecifiedMatching DOID:0110970 brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching +DOID:0110970 brachydactyly type C oboInOwl:hasDbXref ORDO:93384 semapv:UnspecifiedMatching +DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS_CUI:C1300268 semapv:UnspecifiedMatching +DOID:0110970 brachydactyly type C oboInOwl:hasDbXref UMLS_CUI:C1862103 semapv:UnspecifiedMatching DOID:0110971 brachydactyly type D oboInOwl:hasDbXref OMIM:113200 semapv:UnspecifiedMatching DOID:0110972 brachydactyly type E1 oboInOwl:hasDbXref OMIM:113300 semapv:UnspecifiedMatching DOID:0110973 Mononen-Karnes-Senac syndrome oboInOwl:hasDbXref UMLS_CUI:C2931060 semapv:UnspecifiedMatching @@ -8922,8 +8948,8 @@ DOID:0110979 Sugarman brachydactyly oboInOwl:hasDbXref GARD:5058 semapv:Unspecif DOID:0110979 Sugarman brachydactyly oboInOwl:hasDbXref OMIM:272150 semapv:UnspecifiedMatching DOID:0110979 Sugarman brachydactyly oboInOwl:hasDbXref ORDO:498602 semapv:UnspecifiedMatching DOID:0110980 Joubert syndrome 1 oboInOwl:hasDbXref OMIM:213300 semapv:UnspecifiedMatching -DOID:0110981 Joubert syndrome 10 oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching DOID:0110981 Joubert syndrome 10 oboInOwl:hasDbXref MESH:C567582 semapv:UnspecifiedMatching +DOID:0110981 Joubert syndrome 10 oboInOwl:hasDbXref OMIM:300804 semapv:UnspecifiedMatching DOID:0110982 Joubert syndrome 13 oboInOwl:hasDbXref OMIM:614173 semapv:UnspecifiedMatching DOID:0110983 Joubert syndrome 14 oboInOwl:hasDbXref OMIM:614424 semapv:UnspecifiedMatching DOID:0110984 Joubert syndrome 15 oboInOwl:hasDbXref OMIM:614464 semapv:UnspecifiedMatching @@ -8942,8 +8968,8 @@ DOID:0110994 Joubert syndrome 25 oboInOwl:hasDbXref OMIM:616781 semapv:Unspecifi DOID:0110995 Joubert syndrome 26 oboInOwl:hasDbXref OMIM:616784 semapv:UnspecifiedMatching DOID:0110996 Joubert syndrome 27 oboInOwl:hasDbXref OMIM:617120 semapv:UnspecifiedMatching DOID:0110997 Joubert syndrome 28 oboInOwl:hasDbXref OMIM:617121 semapv:UnspecifiedMatching -DOID:0110998 Joubert syndrome 3 oboInOwl:hasDbXref MESH:C536295 semapv:UnspecifiedMatching DOID:0110998 Joubert syndrome 3 oboInOwl:hasDbXref OMIM:608629 semapv:UnspecifiedMatching +DOID:0110998 Joubert syndrome 3 oboInOwl:hasDbXref MESH:C536295 semapv:UnspecifiedMatching DOID:0110999 Joubert syndrome 4 oboInOwl:hasDbXref GARD:10169 semapv:UnspecifiedMatching DOID:0110999 Joubert syndrome 4 oboInOwl:hasDbXref MESH:C536296 semapv:UnspecifiedMatching DOID:0110999 Joubert syndrome 4 oboInOwl:hasDbXref OMIM:609583 semapv:UnspecifiedMatching @@ -8953,12 +8979,12 @@ DOID:0111001 Joubert syndrome 6 oboInOwl:hasDbXref MESH:C537689 semapv:Unspecifi DOID:0111001 Joubert syndrome 6 oboInOwl:hasDbXref OMIM:610688 semapv:UnspecifiedMatching DOID:0111002 Joubert syndrome 7 oboInOwl:hasDbXref MESH:C566916 semapv:UnspecifiedMatching DOID:0111002 Joubert syndrome 7 oboInOwl:hasDbXref OMIM:611560 semapv:UnspecifiedMatching -DOID:0111003 Joubert syndrome 8 oboInOwl:hasDbXref OMIM:612291 semapv:UnspecifiedMatching DOID:0111003 Joubert syndrome 8 oboInOwl:hasDbXref MESH:C567358 semapv:UnspecifiedMatching +DOID:0111003 Joubert syndrome 8 oboInOwl:hasDbXref OMIM:612291 semapv:UnspecifiedMatching DOID:0111004 Joubert syndrome 9 oboInOwl:hasDbXref MESH:C567364 semapv:UnspecifiedMatching DOID:0111004 Joubert syndrome 9 oboInOwl:hasDbXref OMIM:612285 semapv:UnspecifiedMatching -DOID:0111005 cone-rod dystrophy 2 oboInOwl:hasDbXref GARD:6145 semapv:UnspecifiedMatching DOID:0111005 cone-rod dystrophy 2 oboInOwl:hasDbXref OMIM:120970 semapv:UnspecifiedMatching +DOID:0111005 cone-rod dystrophy 2 oboInOwl:hasDbXref GARD:6145 semapv:UnspecifiedMatching DOID:0111006 X-linked cone-rod dystrophy 2 oboInOwl:hasDbXref OMIM:300085 semapv:UnspecifiedMatching DOID:0111007 X-linked cone-rod dystrophy 3 oboInOwl:hasDbXref OMIM:300476 semapv:UnspecifiedMatching DOID:0111008 X-linked cone-rod dystrophy 1 oboInOwl:hasDbXref OMIM:304020 semapv:UnspecifiedMatching @@ -8969,11 +8995,11 @@ DOID:0111010 cone-rod dystrophy 5 oboInOwl:hasDbXref MESH:C563415 semapv:Unspeci DOID:0111010 cone-rod dystrophy 5 oboInOwl:hasDbXref OMIM:600977 semapv:UnspecifiedMatching DOID:0111011 cone-rod dystrophy 6 oboInOwl:hasDbXref GARD:10656 semapv:UnspecifiedMatching DOID:0111011 cone-rod dystrophy 6 oboInOwl:hasDbXref OMIM:601777 semapv:UnspecifiedMatching -DOID:0111012 cone-rod dystrophy 7 oboInOwl:hasDbXref OMIM:603649 semapv:UnspecifiedMatching DOID:0111012 cone-rod dystrophy 7 oboInOwl:hasDbXref MESH:C566350 semapv:UnspecifiedMatching -DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref GARD:10653 semapv:UnspecifiedMatching +DOID:0111012 cone-rod dystrophy 7 oboInOwl:hasDbXref OMIM:603649 semapv:UnspecifiedMatching DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref MESH:C565827 semapv:UnspecifiedMatching DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref OMIM:604116 semapv:UnspecifiedMatching +DOID:0111013 cone-rod dystrophy 3 oboInOwl:hasDbXref GARD:10653 semapv:UnspecifiedMatching DOID:0111014 cone-rod dystrophy 8 oboInOwl:hasDbXref MESH:C565322 semapv:UnspecifiedMatching DOID:0111014 cone-rod dystrophy 8 oboInOwl:hasDbXref OMIM:605549 semapv:UnspecifiedMatching DOID:0111015 Newfoundland cone-rod dystrophy oboInOwl:hasDbXref OMIM:607476 semapv:UnspecifiedMatching @@ -8983,8 +9009,8 @@ DOID:0111017 cone-rod dystrophy 10 oboInOwl:hasDbXref MESH:C564597 semapv:Unspec DOID:0111017 cone-rod dystrophy 10 oboInOwl:hasDbXref OMIM:610283 semapv:UnspecifiedMatching DOID:0111018 cone-rod dystrophy 11 oboInOwl:hasDbXref MESH:C563671 semapv:UnspecifiedMatching DOID:0111018 cone-rod dystrophy 11 oboInOwl:hasDbXref OMIM:610381 semapv:UnspecifiedMatching -DOID:0111019 cone-rod dystrophy 12 oboInOwl:hasDbXref OMIM:612657 semapv:UnspecifiedMatching DOID:0111019 cone-rod dystrophy 12 oboInOwl:hasDbXref MESH:C567206 semapv:UnspecifiedMatching +DOID:0111019 cone-rod dystrophy 12 oboInOwl:hasDbXref OMIM:612657 semapv:UnspecifiedMatching DOID:0111020 cone-rod dystrophy 9 oboInOwl:hasDbXref OMIM:612775 semapv:UnspecifiedMatching DOID:0111021 cone-rod dystrophy 15 oboInOwl:hasDbXref OMIM:613660 semapv:UnspecifiedMatching DOID:0111022 cone-rod dystrophy 16 oboInOwl:hasDbXref OMIM:614500 semapv:UnspecifiedMatching @@ -8998,15 +9024,15 @@ DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref MESH:C537249 semapv:Unspe DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref ORDO:139491 semapv:UnspecifiedMatching DOID:0111028 hemochromatosis type 4 oboInOwl:hasDbXref UMLS_CUI:C1853733 semapv:UnspecifiedMatching +DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref GARD:10417 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref OMIM:235200 semapv:UnspecifiedMatching -DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref GARD:10417 semapv:UnspecifiedMatching DOID:0111029 hemochromatosis type 1 oboInOwl:hasDbXref ORDO:465508 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref UMLS_CUI:C1858664 semapv:UnspecifiedMatching -DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref ORDO:225123 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching -DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching +DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref ORDO:225123 semapv:UnspecifiedMatching DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref GARD:10093 semapv:UnspecifiedMatching +DOID:0111030 hemochromatosis type 3 oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref OMIM:615517 semapv:UnspecifiedMatching DOID:0111031 hemochromatosis type 5 oboInOwl:hasDbXref ORDO:247790 semapv:UnspecifiedMatching @@ -9018,10 +9044,10 @@ DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref GARD:10092 semapv:Unspeci DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref MESH:C537247 semapv:UnspecifiedMatching DOID:0111034 hemochromatosis type 2 oboInOwl:hasDbXref ORDO:79230 semapv:UnspecifiedMatching -DOID:0111035 CADASIL 1 oboInOwl:hasDbXref OMIM:125310 semapv:UnspecifiedMatching DOID:0111035 CADASIL 1 oboInOwl:hasDbXref ICD10CM:F01.1 semapv:UnspecifiedMatching -DOID:0111036 CADASIL 2 oboInOwl:hasDbXref ICD10CM:F01.1 semapv:UnspecifiedMatching +DOID:0111035 CADASIL 1 oboInOwl:hasDbXref OMIM:125310 semapv:UnspecifiedMatching DOID:0111036 CADASIL 2 oboInOwl:hasDbXref OMIM:616779 semapv:UnspecifiedMatching +DOID:0111036 CADASIL 2 oboInOwl:hasDbXref ICD10CM:F01.1 semapv:UnspecifiedMatching DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref GARD:10764 semapv:UnspecifiedMatching DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref OMIM:606664 semapv:UnspecifiedMatching @@ -9029,64 +9055,64 @@ DOID:0111037 glycine N-methyltransferase deficiency oboInOwl:hasDbXref ORDO:2898 DOID:0111038 hypermethioninemia due to adenosine kinase deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching DOID:0111038 hypermethioninemia due to adenosine kinase deficiency oboInOwl:hasDbXref OMIM:614300 semapv:UnspecifiedMatching DOID:0111038 hypermethioninemia due to adenosine kinase deficiency oboInOwl:hasDbXref ORDO:289290 semapv:UnspecifiedMatching -DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref ORDO:88618 semapv:UnspecifiedMatching DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref GARD:13177 semapv:UnspecifiedMatching DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref OMIM:613752 semapv:UnspecifiedMatching -DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref OMIM:300559 semapv:UnspecifiedMatching +DOID:0111039 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase oboInOwl:hasDbXref ORDO:88618 semapv:UnspecifiedMatching DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref ORDO:715 semapv:UnspecifiedMatching +DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref OMIM:300559 semapv:UnspecifiedMatching DOID:0111040 glycogen storage disease IXd oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching +DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref ORDO:79240 semapv:UnspecifiedMatching +DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref OMIM:261750 semapv:UnspecifiedMatching DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref MESH:C563008 semapv:UnspecifiedMatching -DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref OMIM:261750 semapv:UnspecifiedMatching -DOID:0111041 glycogen storage disease IXb oboInOwl:hasDbXref ORDO:79240 semapv:UnspecifiedMatching DOID:0111042 glycogen storage disease IXa oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:0111042 glycogen storage disease IXa oboInOwl:hasDbXref OMIM:306000 semapv:UnspecifiedMatching DOID:0111043 glycogen storage disease IXc oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching DOID:0111043 glycogen storage disease IXc oboInOwl:hasDbXref MESH:C567809 semapv:UnspecifiedMatching DOID:0111043 glycogen storage disease IXc oboInOwl:hasDbXref OMIM:613027 semapv:UnspecifiedMatching +DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref ORDO:721 semapv:UnspecifiedMatching -DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref UMLS_CUI:C0272302 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref NCI:C84741 semapv:UnspecifiedMatching -DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref OMIM:139090 semapv:UnspecifiedMatching +DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref UMLS_CUI:C0272302 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref GARD:2562 semapv:UnspecifiedMatching DOID:0111044 gray platelet syndrome oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching -DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref OMIM:614200 semapv:UnspecifiedMatching DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref ORDO:98886 semapv:UnspecifiedMatching +DOID:0111045 platelet-type bleeding disorder 9 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching DOID:0111046 platelet-type bleeding disorder 10 oboInOwl:hasDbXref OMIM:608404 semapv:UnspecifiedMatching DOID:0111047 platelet-type bleeding disorder 14 oboInOwl:hasDbXref OMIM:614158 semapv:UnspecifiedMatching DOID:0111048 platelet-type bleeding disorder 19 oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:0111048 platelet-type bleeding disorder 19 oboInOwl:hasDbXref OMIM:616176 semapv:UnspecifiedMatching DOID:0111048 platelet-type bleeding disorder 19 oboInOwl:hasDbXref ORDO:438207 semapv:UnspecifiedMatching -DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref MESH:D055652 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref NCI:C84741 semapv:UnspecifiedMatching +DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref OMIM:187900 semapv:UnspecifiedMatching DOID:0111049 platelet-type bleeding disorder 17 oboInOwl:hasDbXref UMLS_CUI:C0272302 semapv:UnspecifiedMatching -DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref UMLS_CUI:C1866423 semapv:UnspecifiedMatching -DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref ORDO:220436 semapv:UnspecifiedMatching +DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref OMIM:601709 semapv:UnspecifiedMatching +DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref UMLS_CUI:C1866423 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref GARD:8345 semapv:UnspecifiedMatching DOID:0111050 Quebec platelet disorder oboInOwl:hasDbXref MESH:C536260 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref OMIM:615888 semapv:UnspecifiedMatching DOID:0111051 platelet-type bleeding disorder 18 oboInOwl:hasDbXref ORDO:420566 semapv:UnspecifiedMatching -DOID:0111052 Scott syndrome oboInOwl:hasDbXref GARD:4777 semapv:UnspecifiedMatching -DOID:0111052 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMatching +DOID:0111052 Scott syndrome oboInOwl:hasDbXref UMLS_CUI:C0796149 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching DOID:0111052 Scott syndrome oboInOwl:hasDbXref ORDO:806 semapv:UnspecifiedMatching -DOID:0111052 Scott syndrome oboInOwl:hasDbXref UMLS_CUI:C0796149 semapv:UnspecifiedMatching +DOID:0111052 Scott syndrome oboInOwl:hasDbXref GARD:4777 semapv:UnspecifiedMatching +DOID:0111052 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMatching DOID:0111053 platelet-type bleeding disorder 15 oboInOwl:hasDbXref OMIM:615193 semapv:UnspecifiedMatching +DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref ICD10CM:D68.03 semapv:UnspecifiedMatching +DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref MESH:D056729 semapv:UnspecifiedMatching +DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref NCI:C85213 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref OMIM:277480 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref UMLS_CUI:C1264041 semapv:UnspecifiedMatching DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref ORDO:166096 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref NCI:C85213 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref MESH:D056729 semapv:UnspecifiedMatching -DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref ICD10CM:D68.03 semapv:UnspecifiedMatching -DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref OMIM:616913 semapv:UnspecifiedMatching +DOID:0111054 von Willebrand's disease 3 oboInOwl:hasDbXref UMLS_CUI:C1264041 semapv:UnspecifiedMatching DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref ORDO:466806 semapv:UnspecifiedMatching +DOID:0111055 platelet-type bleeding disorder 20 oboInOwl:hasDbXref OMIM:616913 semapv:UnspecifiedMatching DOID:0111056 platelet-type bleeding disorder 3 oboInOwl:hasDbXref ICD10CM:D69.8 semapv:UnspecifiedMatching DOID:0111056 platelet-type bleeding disorder 3 oboInOwl:hasDbXref OMIM:177820 semapv:UnspecifiedMatching DOID:0111056 platelet-type bleeding disorder 3 oboInOwl:hasDbXref ORDO:52530 semapv:UnspecifiedMatching @@ -9095,11 +9121,11 @@ DOID:0111057 platelet-type bleeding disorder 11 oboInOwl:hasDbXref OMIM:614201 s DOID:0111057 platelet-type bleeding disorder 11 oboInOwl:hasDbXref ORDO:98885 semapv:UnspecifiedMatching DOID:0111058 platelet-type bleeding disorder 12 oboInOwl:hasDbXref OMIM:605735 semapv:UnspecifiedMatching DOID:0111059 Bernard-Soulier syndrome type A2 oboInOwl:hasDbXref OMIM:153670 semapv:UnspecifiedMatching -DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref ORDO:1023 semapv:UnspecifiedMatching -DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref MESH:C536605 semapv:UnspecifiedMatching -DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref GARD:8206 semapv:UnspecifiedMatching DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref ICD10CM:Q84.2 semapv:UnspecifiedMatching +DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref MESH:C536605 semapv:UnspecifiedMatching +DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref OMIM:145701 semapv:UnspecifiedMatching +DOID:0111060 Ambras type hypertrichosis universalis congenita oboInOwl:hasDbXref ORDO:1023 semapv:UnspecifiedMatching DOID:0111061 familial hypobetalipoproteinemia 2 oboInOwl:hasDbXref OMIM:605019 semapv:UnspecifiedMatching DOID:0111062 familial hypobetalipoproteinemia 1 oboInOwl:hasDbXref OMIM:615558 semapv:UnspecifiedMatching DOID:0111063 hyperphosphatemic familial tumoral calcinosis oboInOwl:hasDbXref GARD:10879 semapv:UnspecifiedMatching @@ -9109,32 +9135,32 @@ DOID:0111063 hyperphosphatemic familial tumoral calcinosis oboInOwl:hasDbXref OR DOID:0111064 distal spinal muscular atrophy 1 oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching DOID:0111064 distal spinal muscular atrophy 1 oboInOwl:hasDbXref OMIM:604320 semapv:UnspecifiedMatching DOID:0111064 distal spinal muscular atrophy 1 oboInOwl:hasDbXref ORDO:98920 semapv:UnspecifiedMatching -DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1854023 semapv:UnspecifiedMatching -DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching -DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:139552 semapv:UnspecifiedMatching DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref GARD:10133 semapv:UnspecifiedMatching DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref MESH:C535715 semapv:UnspecifiedMatching +DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:605726 semapv:UnspecifiedMatching +DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:139552 semapv:UnspecifiedMatching +DOID:0111065 distal spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1854023 semapv:UnspecifiedMatching DOID:0111066 congenital bile acid synthesis defect 5 oboInOwl:hasDbXref OMIM:616278 semapv:UnspecifiedMatching DOID:0111067 congenital bile acid synthesis defect 6 oboInOwl:hasDbXref OMIM:617308 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref GARD:10046 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching -DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref ORDO:79095 semapv:UnspecifiedMatching DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref UMLS_CUI:C1858328 semapv:UnspecifiedMatching -DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref UMLS_CUI:C1856127 semapv:UnspecifiedMatching +DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref ORDO:79095 semapv:UnspecifiedMatching +DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref OMIM:214950 semapv:UnspecifiedMatching +DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref MESH:C535444 semapv:UnspecifiedMatching +DOID:0111068 congenital bile acid synthesis defect 4 oboInOwl:hasDbXref GARD:10046 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref GARD:10045 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref MESH:C535443 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref OMIM:235555 semapv:UnspecifiedMatching DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref ORDO:79303 semapv:UnspecifiedMatching +DOID:0111069 congenital bile acid synthesis defect 2 oboInOwl:hasDbXref UMLS_CUI:C1856127 semapv:UnspecifiedMatching +DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref OMIM:613812 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref ORDO:79302 semapv:UnspecifiedMatching -DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref MESH:C566340 semapv:UnspecifiedMatching DOID:0111070 congenital bile acid synthesis defect 3 oboInOwl:hasDbXref UMLS_CUI:C3151147 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref UMLS_CUI:C1843116 semapv:UnspecifiedMatching -DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref ORDO:79301 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref OMIM:607765 semapv:UnspecifiedMatching -DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching +DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref ORDO:79301 semapv:UnspecifiedMatching DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref GARD:9813 semapv:UnspecifiedMatching +DOID:0111071 congenital bile acid synthesis defect 1 oboInOwl:hasDbXref MESH:C535442 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref GARD:10238 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref MESH:C536106 semapv:UnspecifiedMatching DOID:0111072 myostatin-related muscle hypertrophy oboInOwl:hasDbXref OMIM:614160 semapv:UnspecifiedMatching @@ -9145,12 +9171,12 @@ DOID:0111073 progressive familial heart block oboInOwl:hasDbXref ORDO:871 semapv DOID:0111074 progressive familial heart block type IA oboInOwl:hasDbXref OMIM:113900 semapv:UnspecifiedMatching DOID:0111075 progressive familial heart block type II oboInOwl:hasDbXref MESH:C564202 semapv:UnspecifiedMatching DOID:0111075 progressive familial heart block type II oboInOwl:hasDbXref OMIM:140400 semapv:UnspecifiedMatching -DOID:0111076 progressive familial heart block type IB oboInOwl:hasDbXref MESH:C567037 semapv:UnspecifiedMatching DOID:0111076 progressive familial heart block type IB oboInOwl:hasDbXref OMIM:604559 semapv:UnspecifiedMatching -DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref ORDO:766 semapv:UnspecifiedMatching +DOID:0111076 progressive familial heart block type IB oboInOwl:hasDbXref MESH:C567037 semapv:UnspecifiedMatching DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref OMIM:266200 semapv:UnspecifiedMatching -DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref MESH:C564858 semapv:UnspecifiedMatching +DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref ORDO:766 semapv:UnspecifiedMatching DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref GARD:7514 semapv:UnspecifiedMatching +DOID:0111077 pyruvate kinase deficiency of red cells oboInOwl:hasDbXref MESH:C564858 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref OMIM:600334 semapv:UnspecifiedMatching DOID:0111078 tibial muscular dystrophy oboInOwl:hasDbXref ORDO:609 semapv:UnspecifiedMatching @@ -9213,8 +9239,8 @@ DOID:0111124 nephronophthisis 16 oboInOwl:hasDbXref OMIM:615382 semapv:Unspecifi DOID:0111125 nephronophthisis 18 oboInOwl:hasDbXref OMIM:615862 semapv:UnspecifiedMatching DOID:0111126 nephronophthisis 19 oboInOwl:hasDbXref OMIM:616217 semapv:UnspecifiedMatching DOID:0111127 nephronophthisis 20 oboInOwl:hasDbXref OMIM:617271 semapv:UnspecifiedMatching -DOID:0111128 focal segmental glomerulosclerosis 1 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching DOID:0111128 focal segmental glomerulosclerosis 1 oboInOwl:hasDbXref OMIM:603278 semapv:UnspecifiedMatching +DOID:0111128 focal segmental glomerulosclerosis 1 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching DOID:0111129 focal segmental glomerulosclerosis 2 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching DOID:0111129 focal segmental glomerulosclerosis 2 oboInOwl:hasDbXref MESH:C565831 semapv:UnspecifiedMatching DOID:0111129 focal segmental glomerulosclerosis 2 oboInOwl:hasDbXref OMIM:603965 semapv:UnspecifiedMatching @@ -9229,9 +9255,9 @@ DOID:0111133 focal segmental glomerulosclerosis 8 oboInOwl:hasDbXref ICD10CM:N04 DOID:0111133 focal segmental glomerulosclerosis 8 oboInOwl:hasDbXref OMIM:616032 semapv:UnspecifiedMatching DOID:0111134 focal segmental glomerulosclerosis 9 oboInOwl:hasDbXref OMIM:616220 semapv:UnspecifiedMatching DOID:0111134 focal segmental glomerulosclerosis 9 oboInOwl:hasDbXref ICD10CM:N04.1 semapv:UnspecifiedMatching -DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref GARD:84 semapv:UnspecifiedMatching -DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref OMIM:608594 semapv:UnspecifiedMatching +DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching +DOID:0111135 congenital generalized lipodystrophy type 1 oboInOwl:hasDbXref GARD:84 semapv:UnspecifiedMatching DOID:0111136 congenital generalized lipodystrophy type 2 oboInOwl:hasDbXref GARD:10212 semapv:UnspecifiedMatching DOID:0111136 congenital generalized lipodystrophy type 2 oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching DOID:0111136 congenital generalized lipodystrophy type 2 oboInOwl:hasDbXref OMIM:269700 semapv:UnspecifiedMatching @@ -9243,88 +9269,88 @@ DOID:0111138 congenital generalized lipodystrophy type 4 oboInOwl:hasDbXref OMIM DOID:0111138 congenital generalized lipodystrophy type 4 oboInOwl:hasDbXref ORDO:228429 semapv:UnspecifiedMatching DOID:0111139 mitochondrial complex III deficiency oboInOwl:hasDbXref MESH:C565128 semapv:UnspecifiedMatching DOID:0111139 mitochondrial complex III deficiency oboInOwl:hasDbXref GARD:8295 semapv:UnspecifiedMatching +DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref OMIM:300888 semapv:UnspecifiedMatching DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref ORDO:329235 semapv:UnspecifiedMatching DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref ICD10CM:E03.1 semapv:UnspecifiedMatching -DOID:0111140 IGSF1 deficiency syndrome oboInOwl:hasDbXref OMIM:300888 semapv:UnspecifiedMatching -DOID:0111142 oligomeganephronia oboInOwl:hasDbXref GARD:4066 semapv:UnspecifiedMatching DOID:0111142 oligomeganephronia oboInOwl:hasDbXref ICD10CM:Q60.4 semapv:UnspecifiedMatching DOID:0111142 oligomeganephronia oboInOwl:hasDbXref ORDO:2260 semapv:UnspecifiedMatching +DOID:0111142 oligomeganephronia oboInOwl:hasDbXref GARD:4066 semapv:UnspecifiedMatching DOID:0111143 mitochondrial complex V (ATP synthase) deficiency oboInOwl:hasDbXref ORDO:254913 semapv:UnspecifiedMatching DOID:0111144 preterm premature rupture of the membranes oboInOwl:hasDbXref MESH:C563032 semapv:UnspecifiedMatching DOID:0111144 preterm premature rupture of the membranes oboInOwl:hasDbXref OMIM:610504 semapv:UnspecifiedMatching -DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref ORDO:99147 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref GARD:5573 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10CM:D68.04 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref MEDDRA:10069495 semapv:UnspecifiedMatching +DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref ORDO:99147 semapv:UnspecifiedMatching DOID:0111146 acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS_CUI:C0272362 semapv:UnspecifiedMatching -DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ORDO:86886 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref UMLS_CUI:C0020981 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref NCI:C7528 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MESH:D007119 semapv:UnspecifiedMatching -DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MEDDRA:10002449 semapv:UnspecifiedMatching +DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ORDO:86886 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICDO:9705/3 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref ICD10CM:C86.5 semapv:UnspecifiedMatching DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref GARD:11973 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ICD10CM:Q12.1 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ICD9CM:743.37 semapv:UnspecifiedMatching +DOID:0111147 angioimmunoblastic T-cell lymphoma oboInOwl:hasDbXref MEDDRA:10002449 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS_CUI:C2746069 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS_CUI:C0013581 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ORDO:1885 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref NCI:C125484 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref MESH:C536184 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ICD9CM:743.37 semapv:UnspecifiedMatching +DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ICD10CM:Q12.1 semapv:UnspecifiedMatching DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref MESH:D004479 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref NCI:C125484 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref ORDO:1885 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS_CUI:C0013581 semapv:UnspecifiedMatching -DOID:0111148 isolated ectopia lentis oboInOwl:hasDbXref UMLS_CUI:C2746069 semapv:UnspecifiedMatching DOID:0111149 autosomal recessive isolated ectopia lentis 2 oboInOwl:hasDbXref OMIM:225100 semapv:UnspecifiedMatching -DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref UMLS_CUI:C1851286 semapv:UnspecifiedMatching DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref OMIM:129600 semapv:UnspecifiedMatching +DOID:0111150 autosomal dominant isolated ectopia lentis 1 oboInOwl:hasDbXref UMLS_CUI:C1851286 semapv:UnspecifiedMatching DOID:0111151 Prinzmetal angina oboInOwl:hasDbXref MESH:D000788 semapv:UnspecifiedMatching -DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref GARD:9644 semapv:UnspecifiedMatching +DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref UMLS_CUI:C1334815 semapv:UnspecifiedMatching +DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref ORDO:93686 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref MESH:C537372 semapv:UnspecifiedMatching +DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref GARD:9644 semapv:UnspecifiedMatching DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref NCI:C27855 semapv:UnspecifiedMatching -DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref ORDO:93686 semapv:UnspecifiedMatching -DOID:0111152 multicentric Castleman disease oboInOwl:hasDbXref UMLS_CUI:C1334815 semapv:UnspecifiedMatching DOID:0111153 congenital mirror movement disorder oboInOwl:hasDbXref ORDO:238722 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref GARD:9597 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref ICD10CM:I95.1 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref MESH:D054972 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref OMIM:604715 semapv:UnspecifiedMatching DOID:0111154 postural orthostatic tachycardia syndrome oboInOwl:hasDbXref ORDO:443236 semapv:UnspecifiedMatching -DOID:0111155 autosomal recessive spinocerebellar ataxia 21 oboInOwl:hasDbXref ORDO:466794 semapv:UnspecifiedMatching DOID:0111155 autosomal recessive spinocerebellar ataxia 21 oboInOwl:hasDbXref OMIM:616719 semapv:UnspecifiedMatching +DOID:0111155 autosomal recessive spinocerebellar ataxia 21 oboInOwl:hasDbXref ORDO:466794 semapv:UnspecifiedMatching +DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref GARD:12502 semapv:UnspecifiedMatching DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref ORDO:171709 semapv:UnspecifiedMatching -DOID:0111156 spermatogenic failure 9 oboInOwl:hasDbXref GARD:12502 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref GARD:12656 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref ICD10CM:D47.Z2 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:C536362 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:D005871 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref NCI:C3056 semapv:UnspecifiedMatching -DOID:0111157 Castleman disease oboInOwl:hasDbXref ORDO:160 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS_CUI:C0017531 semapv:UnspecifiedMatching DOID:0111157 Castleman disease oboInOwl:hasDbXref UMLS_CUI:C2931179 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref ORDO:160 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref GARD:12656 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:D005871 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref MESH:C536362 semapv:UnspecifiedMatching +DOID:0111157 Castleman disease oboInOwl:hasDbXref NCI:C3056 semapv:UnspecifiedMatching +DOID:0111158 SADDAN oboInOwl:hasDbXref UMLS_CUI:C2674173 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref GARD:9443 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref OMIM:616482 semapv:UnspecifiedMatching DOID:0111158 SADDAN oboInOwl:hasDbXref ORDO:85165 semapv:UnspecifiedMatching -DOID:0111158 SADDAN oboInOwl:hasDbXref UMLS_CUI:C2674173 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref OMIM:610474 semapv:UnspecifiedMatching -DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS_CUI:C1864852 semapv:UnspecifiedMatching -DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref MESH:C537975 semapv:UnspecifiedMatching DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref ORDO:85164 semapv:UnspecifiedMatching -DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching +DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref MESH:C537975 semapv:UnspecifiedMatching +DOID:0111160 camptodactyly-tall stature-scoliosis-hearing loss syndrome oboInOwl:hasDbXref UMLS_CUI:C1864852 semapv:UnspecifiedMatching DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref ORDO:93262 semapv:UnspecifiedMatching +DOID:0111161 Crouzon syndrome-acanthosis nigricans syndrome oboInOwl:hasDbXref OMIM:612247 semapv:UnspecifiedMatching DOID:0111162 epidermal nevus oboInOwl:hasDbXref MESH:C580062 semapv:UnspecifiedMatching DOID:0111162 epidermal nevus oboInOwl:hasDbXref OMIM:162900 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref MESH:C565373 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref ORDO:308393 semapv:UnspecifiedMatching DOID:0111163 molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS_CUI:C1854989 semapv:UnspecifiedMatching -DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref ORDO:308386 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref MESH:C565372 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref OMIM:252150 semapv:UnspecifiedMatching +DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref ORDO:308386 semapv:UnspecifiedMatching DOID:0111164 molybdenum cofactor deficiency type A oboInOwl:hasDbXref UMLS_CUI:C1854988 semapv:UnspecifiedMatching +DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref OMIMPS:252150 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref ORDO:99732 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref MESH:C535811 semapv:UnspecifiedMatching -DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref OMIMPS:252150 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref ICD10CM:E72.1 semapv:UnspecifiedMatching DOID:0111165 molybdenum cofactor deficiency oboInOwl:hasDbXref GARD:3705 semapv:UnspecifiedMatching DOID:0111166 molybdenum cofactor deficiency type C oboInOwl:hasDbXref MESH:C565374 semapv:UnspecifiedMatching @@ -9339,10 +9365,10 @@ DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref OMIM:612716 sem DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref ORDO:70594 semapv:UnspecifiedMatching DOID:0111168 sepiapterin reductase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268468 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref UMLS_CUI:C1848201 semapv:UnspecifiedMatching -DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref ORDO:99796 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref OMIM:600348 semapv:UnspecifiedMatching -DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref NCI:C116933 semapv:UnspecifiedMatching +DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref ORDO:99796 semapv:UnspecifiedMatching DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref MESH:D054221 semapv:UnspecifiedMatching +DOID:0111169 subcortical band heterotopia oboInOwl:hasDbXref NCI:C116933 semapv:UnspecifiedMatching DOID:0111170 autosomal dominant sensory ataxia 1 oboInOwl:hasDbXref OMIM:608984 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref GARD:8370 semapv:UnspecifiedMatching DOID:0111180 French Canadian Leigh disease oboInOwl:hasDbXref MESH:C537004 semapv:UnspecifiedMatching @@ -9371,13 +9397,13 @@ DOID:0111191 distal muscular dystrophy Tateyama type oboInOwl:hasDbXref OMIM:614 DOID:0111191 distal muscular dystrophy Tateyama type oboInOwl:hasDbXref ORDO:488650 semapv:UnspecifiedMatching DOID:0111192 facioscapulohumeral muscular dystrophy 1 oboInOwl:hasDbXref OMIM:158900 semapv:UnspecifiedMatching DOID:0111193 facioscapulohumeral muscular dystrophy 2 oboInOwl:hasDbXref OMIM:158901 semapv:UnspecifiedMatching -DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ORDO:209335 semapv:UnspecifiedMatching DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:182980 semapv:UnspecifiedMatching +DOID:0111194 autosomal dominant adult-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ORDO:209335 semapv:UnspecifiedMatching DOID:0111195 erythrokeratodermia variabilis et progressiva 1 oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching -DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref MESH:C564506 semapv:UnspecifiedMatching -DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref OMIM:300489 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref ORDO:139557 semapv:UnspecifiedMatching DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref UMLS_CUI:C1845359 semapv:UnspecifiedMatching +DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref MESH:C564506 semapv:UnspecifiedMatching +DOID:0111196 X-linked distal spinal muscular atrophy 3 oboInOwl:hasDbXref OMIM:300489 semapv:UnspecifiedMatching DOID:0111197 autosomal recessive distal hereditary motor neuronopathy oboInOwl:hasDbXref ORDO:140468 semapv:UnspecifiedMatching DOID:0111198 autosomal dominant distal hereditary motor neuronopathy oboInOwl:hasDbXref ORDO:140465 semapv:UnspecifiedMatching DOID:0111199 distal hereditary motor neuronopathy type 7 oboInOwl:hasDbXref ORDO:139589 semapv:UnspecifiedMatching @@ -9389,9 +9415,9 @@ DOID:0111200 distal hereditary motor neuronopathy type 1 oboInOwl:hasDbXref UMLS DOID:0111201 distal hereditary motor neuronopathy type 7A oboInOwl:hasDbXref OMIM:158580 semapv:UnspecifiedMatching DOID:0111202 distal hereditary motor neuronopathy type 7B oboInOwl:hasDbXref OMIM:607641 semapv:UnspecifiedMatching DOID:0111203 distal hereditary motor neuronopathy type 5 oboInOwl:hasDbXref ORDO:139536 semapv:UnspecifiedMatching +DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref OMIM:600794 semapv:UnspecifiedMatching DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref UMLS_CUI:C1833308 semapv:UnspecifiedMatching DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref MESH:C563443 semapv:UnspecifiedMatching -DOID:0111204 distal hereditary motor neuronopathy type 5A oboInOwl:hasDbXref OMIM:600794 semapv:UnspecifiedMatching DOID:0111205 distal hereditary motor neuronopathy type 5B oboInOwl:hasDbXref OMIM:614751 semapv:UnspecifiedMatching DOID:0111206 distal hereditary motor neuronopathy type 2 oboInOwl:hasDbXref MESH:C580044 semapv:UnspecifiedMatching DOID:0111206 distal hereditary motor neuronopathy type 2 oboInOwl:hasDbXref ORDO:139525 semapv:UnspecifiedMatching @@ -9405,12 +9431,12 @@ DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref OMIM:60708 DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref ORDO:139547 semapv:UnspecifiedMatching DOID:0111211 distal spinal muscular atrophy type 3 oboInOwl:hasDbXref UMLS_CUI:C1846823 semapv:UnspecifiedMatching DOID:0111212 distal hereditary motor neuronopathy type 9 oboInOwl:hasDbXref OMIM:617721 semapv:UnspecifiedMatching -DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS_CUI:C1970211 semapv:UnspecifiedMatching DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref ORDO:206580 semapv:UnspecifiedMatching -DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching +DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS_CUI:C1970211 semapv:UnspecifiedMatching DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref MESH:C567023 semapv:UnspecifiedMatching -DOID:0111214 distal spinal muscular atrophy type 5 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching +DOID:0111213 distal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:611067 semapv:UnspecifiedMatching DOID:0111214 distal spinal muscular atrophy type 5 oboInOwl:hasDbXref ORDO:314485 semapv:UnspecifiedMatching +DOID:0111214 distal spinal muscular atrophy type 5 oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching DOID:0111215 distal hereditary motor neuronopathy type 8 oboInOwl:hasDbXref OMIM:600175 semapv:UnspecifiedMatching DOID:0111216 autosomal recessive centronuclear myopathy oboInOwl:hasDbXref GARD:12718 semapv:UnspecifiedMatching DOID:0111216 autosomal recessive centronuclear myopathy oboInOwl:hasDbXref ORDO:169186 semapv:UnspecifiedMatching @@ -9421,11 +9447,11 @@ DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref ORDO:1 DOID:0111217 autosomal dominant centronuclear myopathy oboInOwl:hasDbXref UMLS_CUI:C1834558 semapv:UnspecifiedMatching DOID:0111218 Friedreich ataxia 1 oboInOwl:hasDbXref MESH:C565561 semapv:UnspecifiedMatching DOID:0111218 Friedreich ataxia 1 oboInOwl:hasDbXref OMIM:229300 semapv:UnspecifiedMatching -DOID:0111219 Friedreich ataxia 2 oboInOwl:hasDbXref OMIM:601992 semapv:UnspecifiedMatching DOID:0111219 Friedreich ataxia 2 oboInOwl:hasDbXref MESH:C566594 semapv:UnspecifiedMatching -DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref MESH:C562934 semapv:UnspecifiedMatching -DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching +DOID:0111219 Friedreich ataxia 2 oboInOwl:hasDbXref OMIM:601992 semapv:UnspecifiedMatching DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref UMLS_CUI:C0410204 semapv:UnspecifiedMatching +DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref OMIM:255200 semapv:UnspecifiedMatching +DOID:0111220 centronuclear myopathy 2 oboInOwl:hasDbXref MESH:C562934 semapv:UnspecifiedMatching DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion oboInOwl:hasDbXref OMIM:617760 semapv:UnspecifiedMatching DOID:0111222 centronuclear myopathy 5 oboInOwl:hasDbXref OMIM:615959 semapv:UnspecifiedMatching DOID:0111223 centronuclear myopathy 1 oboInOwl:hasDbXref OMIM:160150 semapv:UnspecifiedMatching @@ -9433,17 +9459,17 @@ DOID:0111224 centronuclear myopathy 4 oboInOwl:hasDbXref OMIM:614807 semapv:Unsp DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref GARD:11925 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref ICD10CM:G71.220 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching -DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref NCI:C118781 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref OMIM:310400 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref ORDO:596 semapv:UnspecifiedMatching DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref UMLS_CUI:C0410203 semapv:UnspecifiedMatching +DOID:0111225 centronuclear myopathy X-linked oboInOwl:hasDbXref NCI:C118781 semapv:UnspecifiedMatching DOID:0111226 X-linked congenital myopathy with fiber-type disproportion oboInOwl:hasDbXref OMIM:300580 semapv:UnspecifiedMatching DOID:0111227 chromosome 3-linked frontotemporal dementia oboInOwl:hasDbXref MESH:C579991 semapv:UnspecifiedMatching DOID:0111227 chromosome 3-linked frontotemporal dementia oboInOwl:hasDbXref OMIM:600795 semapv:UnspecifiedMatching -DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref MESH:C566236 semapv:UnspecifiedMatching -DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref ORDO:86813 semapv:UnspecifiedMatching DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref UMLS_CUI:C1862382 semapv:UnspecifiedMatching +DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref OMIM:108985 semapv:UnspecifiedMatching +DOID:0111228 Sveinsson chorioretinal atrophy oboInOwl:hasDbXref MESH:C566236 semapv:UnspecifiedMatching DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A oboInOwl:hasDbXref OMIMPS:236670 semapv:UnspecifiedMatching DOID:0111229 congenital muscular dystrophy-dystroglycanopathy type A oboInOwl:hasDbXref ORDO:352687 semapv:UnspecifiedMatching DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11 oboInOwl:hasDbXref OMIM:615181 semapv:UnspecifiedMatching @@ -9459,103 +9485,103 @@ DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 oboInOwl: DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 oboInOwl:hasDbXref OMIM:613150 semapv:UnspecifiedMatching DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 oboInOwl:hasDbXref OMIM:613153 semapv:UnspecifiedMatching DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 oboInOwl:hasDbXref OMIM:613154 semapv:UnspecifiedMatching +DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref UMLS_CUI:C0265287 semapv:UnspecifiedMatching +DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref ORDO:969 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref GARD:7 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref MESH:C535662 semapv:UnspecifiedMatching DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref OMIM:102370 semapv:UnspecifiedMatching -DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref ORDO:969 semapv:UnspecifiedMatching -DOID:0111243 acromicric dysplasia oboInOwl:hasDbXref UMLS_CUI:C0265287 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref GARD:604 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref MESH:C537050 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref OMIM:104100 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref ORDO:1010 semapv:UnspecifiedMatching DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 oboInOwl:hasDbXref UMLS_CUI:C1863093 semapv:UnspecifiedMatching -DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref UMLS_CUI:C1859316 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref ORDO:1366 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref MESH:C535336 semapv:UnspecifiedMatching DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref OMIM:212360 semapv:UnspecifiedMatching -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref GARD:9239 semapv:UnspecifiedMatching +DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 oboInOwl:hasDbXref UMLS_CUI:C1859316 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref ORDO:90020 semapv:UnspecifiedMatching DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref UMLS_CUI:C0543859 semapv:UnspecifiedMatching +DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref ORDO:90020 semapv:UnspecifiedMatching +DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref GARD:9239 semapv:UnspecifiedMatching +DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 oboInOwl:hasDbXref OMIM:105500 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref GARD:967 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref MESH:C537095 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref OMIM:112410 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref ORDO:1276 semapv:UnspecifiedMatching DOID:0111247 hypertension and brachydactyly syndrome oboInOwl:hasDbXref UMLS_CUI:C1862170 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref UMLS_CUI:C0265342 semapv:UnspecifiedMatching -DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref ORDO:1393 semapv:UnspecifiedMatching -DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref MESH:C562538 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref GARD:6026 semapv:UnspecifiedMatching +DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref MESH:C562538 semapv:UnspecifiedMatching DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref OMIM:117650 semapv:UnspecifiedMatching +DOID:0111248 cerebrocostomandibular syndrome oboInOwl:hasDbXref ORDO:1393 semapv:UnspecifiedMatching +DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS_CUI:C0795902 semapv:UnspecifiedMatching +DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ORDO:1473 semapv:UnspecifiedMatching +DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref OMIM:120433 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref GARD:1440 semapv:UnspecifiedMatching DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref MESH:C535971 semapv:UnspecifiedMatching -DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref OMIM:120433 semapv:UnspecifiedMatching -DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref ORDO:1473 semapv:UnspecifiedMatching -DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability oboInOwl:hasDbXref UMLS_CUI:C0795902 semapv:UnspecifiedMatching DOID:0111250 Parkinson's disease 3 oboInOwl:hasDbXref OMIM:602404 semapv:UnspecifiedMatching DOID:0111251 Parkinson's disease 21 oboInOwl:hasDbXref OMIM:616361 semapv:UnspecifiedMatching DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching -DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref UMLS_CUI:C0027832 semapv:UnspecifiedMatching DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref ORDO:637 semapv:UnspecifiedMatching DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref NCI:C3274 semapv:UnspecifiedMatching -DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref MESH:D016518 semapv:UnspecifiedMatching +DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref UMLS_CUI:C0027832 semapv:UnspecifiedMatching DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref ICD9CM:237.72 semapv:UnspecifiedMatching DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref ICD10CM:Q85.02 semapv:UnspecifiedMatching DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref GARD:7193 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD10CM:Q85.01 semapv:UnspecifiedMatching +DOID:0111252 neurofibromatosis 2 oboInOwl:hasDbXref MESH:D016518 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ORDO:636 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref UMLS_CUI:C0027831 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD9CM:237.71 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref MESH:D009456 semapv:UnspecifiedMatching DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref NCI:C3273 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref OMIM:162200 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref OMIM:162210 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ORDO:636 semapv:UnspecifiedMatching -DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref UMLS_CUI:C0027831 semapv:UnspecifiedMatching +DOID:0111253 neurofibromatosis 1 oboInOwl:hasDbXref ICD10CM:Q85.01 semapv:UnspecifiedMatching +DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref GARD:6522 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref MESH:C536833 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref OMIM:231670 semapv:UnspecifiedMatching -DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref GARD:6522 semapv:UnspecifiedMatching DOID:0111254 glutaric acidemia I oboInOwl:hasDbXref ORDO:25 semapv:UnspecifiedMatching +DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref GARD:3427 semapv:UnspecifiedMatching +DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MEDDRA:10052312 semapv:UnspecifiedMatching +DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:UnspecifiedMatching +DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref ORDO:2473 semapv:UnspecifiedMatching DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref UMLS_CUI:C0948368 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref OMIM:236700 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MESH:C538159 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref MEDDRA:10052312 semapv:UnspecifiedMatching -DOID:0111255 McKusick-Kaufman syndrome oboInOwl:hasDbXref GARD:3427 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref GARD:2806 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 semapv:UnspecifiedMatching -DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ORDO:163 semapv:UnspecifiedMatching DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref UMLS_CUI:C1833213 semapv:UnspecifiedMatching +DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref ORDO:163 semapv:UnspecifiedMatching +DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref OMIM:600886 semapv:UnspecifiedMatching +DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref MESH:C538137 semapv:UnspecifiedMatching +DOID:0111256 hyperferritinemia-cataract syndrome oboInOwl:hasDbXref GARD:2806 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref GARD:10099 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref MESH:C536836 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref OMIM:231950 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref ORDO:33573 semapv:UnspecifiedMatching DOID:0111257 gamma-glutamyl transpeptidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268524 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref UMLS_CUI:C0268162 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref ORDO:2843 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref OMIM:260800 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref MESH:C536652 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref MEDDRA:10064170 semapv:UnspecifiedMatching -DOID:0111258 pentosuria oboInOwl:hasDbXref ICD10CM:E74.89 semapv:UnspecifiedMatching DOID:0111258 pentosuria oboInOwl:hasDbXref GARD:418 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref ICD10CM:E74.89 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref MEDDRA:10064170 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref MESH:C536652 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref OMIM:260800 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref ORDO:2843 semapv:UnspecifiedMatching +DOID:0111258 pentosuria oboInOwl:hasDbXref UMLS_CUI:C0268162 semapv:UnspecifiedMatching +DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C0265257 semapv:UnspecifiedMatching +DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref ORDO:246 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref GARD:8410 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref MESH:C537680 semapv:UnspecifiedMatching DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref OMIM:263750 semapv:UnspecifiedMatching -DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref ORDO:246 semapv:UnspecifiedMatching -DOID:0111259 postaxial acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C0265257 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref MESH:C567064 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ORDO:3222 semapv:UnspecifiedMatching DOID:0111260 phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref UMLS_CUI:C1970827 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS_CUI:C2936826 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342770 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref ORDO:24 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref OMIM:606812 semapv:UnspecifiedMatching -DOID:0111261 fumarase deficiency oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching DOID:0111261 fumarase deficiency oboInOwl:hasDbXref GARD:6476 semapv:UnspecifiedMatching -DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref GARD:10995 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref MESH:C538191 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref OMIM:606812 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref ORDO:24 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342770 semapv:UnspecifiedMatching +DOID:0111261 fumarase deficiency oboInOwl:hasDbXref UMLS_CUI:C2936826 semapv:UnspecifiedMatching DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref OMIM:613668 semapv:UnspecifiedMatching DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref ORDO:402364 semapv:UnspecifiedMatching +DOID:0111262 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly oboInOwl:hasDbXref GARD:10995 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref GARD:10818 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref MESH:C580002 semapv:UnspecifiedMatching DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref OMIM:614265 semapv:UnspecifiedMatching @@ -9563,61 +9589,61 @@ DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref ORDO DOID:0111263 combined malonic and methylmalonic acidemia oboInOwl:hasDbXref UMLS_CUI:C3280314 semapv:UnspecifiedMatching DOID:0111264 Ruijs-Aalfs syndrome oboInOwl:hasDbXref OMIM:616200 semapv:UnspecifiedMatching DOID:0111264 Ruijs-Aalfs syndrome oboInOwl:hasDbXref ORDO:435953 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref UMLS_CUI:C1859093 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref ORDO:1180 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref OMIM:215470 semapv:UnspecifiedMatching -DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref MESH:C565850 semapv:UnspecifiedMatching DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref GARD:944 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref GARD:413 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching -DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref ORDO:2078 semapv:UnspecifiedMatching +DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref MESH:C565850 semapv:UnspecifiedMatching +DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref OMIM:215470 semapv:UnspecifiedMatching +DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref ORDO:1180 semapv:UnspecifiedMatching +DOID:0111265 Boucher-Neuhauser syndrome oboInOwl:hasDbXref UMLS_CUI:C1859093 semapv:UnspecifiedMatching DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref UMLS_CUI:C0432255 semapv:UnspecifiedMatching +DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref ORDO:2078 semapv:UnspecifiedMatching +DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref OMIM:231070 semapv:UnspecifiedMatching +DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref MESH:C537799 semapv:UnspecifiedMatching +DOID:0111266 geroderma osteodysplasticum oboInOwl:hasDbXref GARD:413 semapv:UnspecifiedMatching DOID:0111267 hyaline body myopathy oboInOwl:hasDbXref GARD:7148 semapv:UnspecifiedMatching DOID:0111267 hyaline body myopathy oboInOwl:hasDbXref ORDO:53698 semapv:UnspecifiedMatching DOID:0111268 autosomal recessive hyaline body myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching DOID:0111269 autosomal dominant hyaline body myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C2931746 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ORDO:99731 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268624 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref GARD:5062 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ICD10CM:E72.19 semapv:UnspecifiedMatching DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref MESH:C538141 semapv:UnspecifiedMatching -DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref GARD:5062 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref GARD:5266 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref MESH:C536554 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching -DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref ORDO:3363 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref OMIM:272300 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref ORDO:99731 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268624 semapv:UnspecifiedMatching +DOID:0111270 isolated sulfite oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C2931746 semapv:UnspecifiedMatching DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref UMLS_CUI:C1848745 semapv:UnspecifiedMatching +DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref ORDO:3363 semapv:UnspecifiedMatching +DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref OMIM:275400 semapv:UnspecifiedMatching +DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref MESH:C536554 semapv:UnspecifiedMatching +DOID:0111271 Oliver-McFarlane syndrome oboInOwl:hasDbXref GARD:5266 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref GARD:4017 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref MESH:C537860 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref OMIM:304150 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref ORDO:198 semapv:UnspecifiedMatching DOID:0111272 occipital horn syndrome oboInOwl:hasDbXref UMLS_CUI:C0268353 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome oboInOwl:hasDbXref UMLS_CUI:C1328349 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome oboInOwl:hasDbXref ORDO:644 semapv:UnspecifiedMatching -DOID:0111273 NARP syndrome oboInOwl:hasDbXref MEDDRA:10062940 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref GARD:262 semapv:UnspecifiedMatching +DOID:0111273 NARP syndrome oboInOwl:hasDbXref MEDDRA:10062940 semapv:UnspecifiedMatching DOID:0111273 NARP syndrome oboInOwl:hasDbXref MESH:C537396 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref GARD:1418 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref MESH:C536434 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref NCI:C126744 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref OMIM:600373 semapv:UnspecifiedMatching -DOID:0111274 CODAS syndrome oboInOwl:hasDbXref ORDO:1458 semapv:UnspecifiedMatching +DOID:0111273 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching +DOID:0111273 NARP syndrome oboInOwl:hasDbXref ORDO:644 semapv:UnspecifiedMatching +DOID:0111273 NARP syndrome oboInOwl:hasDbXref UMLS_CUI:C1328349 semapv:UnspecifiedMatching DOID:0111274 CODAS syndrome oboInOwl:hasDbXref UMLS_CUI:C1838180 semapv:UnspecifiedMatching -DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref ORDO:209908 semapv:UnspecifiedMatching +DOID:0111274 CODAS syndrome oboInOwl:hasDbXref ORDO:1458 semapv:UnspecifiedMatching +DOID:0111274 CODAS syndrome oboInOwl:hasDbXref OMIM:600373 semapv:UnspecifiedMatching +DOID:0111274 CODAS syndrome oboInOwl:hasDbXref NCI:C126744 semapv:UnspecifiedMatching +DOID:0111274 CODAS syndrome oboInOwl:hasDbXref MESH:C536434 semapv:UnspecifiedMatching +DOID:0111274 CODAS syndrome oboInOwl:hasDbXref GARD:1418 semapv:UnspecifiedMatching DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref GARD:12889 semapv:UnspecifiedMatching DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching +DOID:0111275 speech-language disorder-1 oboInOwl:hasDbXref ORDO:209908 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref MESH:C537583 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref OMIM:607459 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref ORDO:70595 semapv:UnspecifiedMatching DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis oboInOwl:hasDbXref UMLS_CUI:C1843851 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ORDO:746 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS_CUI:C1969443 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref GARD:3684 semapv:UnspecifiedMatching +DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS_CUI:C1969443 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:C566945 semapv:UnspecifiedMatching +DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref GARD:3684 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref NCI:C98991 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref GARD:7588 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref ICDO:9749/3 semapv:UnspecifiedMatching @@ -9674,14 +9700,14 @@ DOID:0111325 juvenile myoclonic epilepsy 10 oboInOwl:hasDbXref OMIM:617924 semap DOID:0111326 juvenile myoclonic epilepsy 3 oboInOwl:hasDbXref OMIM:608816 semapv:UnspecifiedMatching DOID:0111327 juvenile myoclonic epilepsy 4 oboInOwl:hasDbXref OMIM:611364 semapv:UnspecifiedMatching DOID:0111328 juvenile myoclonic epilepsy 9 oboInOwl:hasDbXref OMIM:614280 semapv:UnspecifiedMatching -DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C1864723 semapv:UnspecifiedMatching -DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching -DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref ORDO:79096 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref GARD:10730 semapv:UnspecifiedMatching DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref MESH:C566449 semapv:UnspecifiedMatching -DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref MESH:C567125 semapv:UnspecifiedMatching -DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching +DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref OMIM:610090 semapv:UnspecifiedMatching +DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref ORDO:79096 semapv:UnspecifiedMatching +DOID:0111329 pyridoxamine 5'-phosphate oxidase deficiency oboInOwl:hasDbXref UMLS_CUI:C1864723 semapv:UnspecifiedMatching DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref ORDO:139406 semapv:UnspecifiedMatching +DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref OMIM:611721 semapv:UnspecifiedMatching +DOID:0111330 combined saposin deficiency oboInOwl:hasDbXref MESH:C567125 semapv:UnspecifiedMatching DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref GARD:12501 semapv:UnspecifiedMatching DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref OMIM:613670 semapv:UnspecifiedMatching DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome oboInOwl:hasDbXref ORDO:391372 semapv:UnspecifiedMatching @@ -9691,14 +9717,14 @@ DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndr DOID:0111333 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome oboInOwl:hasDbXref ORDO:439212 semapv:UnspecifiedMatching DOID:0111334 congenital leptin deficiency oboInOwl:hasDbXref OMIM:614962 semapv:UnspecifiedMatching DOID:0111334 congenital leptin deficiency oboInOwl:hasDbXref ORDO:66628 semapv:UnspecifiedMatching +DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref GARD:12978 semapv:UnspecifiedMatching DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref OMIM:615673 semapv:UnspecifiedMatching DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref ORDO:401768 semapv:UnspecifiedMatching -DOID:0111335 myopathy with extrapyramidal signs oboInOwl:hasDbXref GARD:12978 semapv:UnspecifiedMatching -DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref GARD:1571 semapv:UnspecifiedMatching -DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching +DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS_CUI:C1852510 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref OMIM:122880 semapv:UnspecifiedMatching DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref ORDO:1529 semapv:UnspecifiedMatching -DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref UMLS_CUI:C1852510 semapv:UnspecifiedMatching +DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref MESH:C536453 semapv:UnspecifiedMatching +DOID:0111336 craniofacial-deafness-hand syndrome oboInOwl:hasDbXref GARD:1571 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref GARD:6796 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref MESH:C537559 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref NCI:C123814 semapv:UnspecifiedMatching @@ -9706,14 +9732,14 @@ DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref OMIM:123150 semapv:Unspec DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref ORDO:1540 semapv:UnspecifiedMatching DOID:0111337 Jackson-Weiss syndrome oboInOwl:hasDbXref UMLS_CUI:C0795998 semapv:UnspecifiedMatching DOID:0111338 isolated elevated serum creatine phosphokinase levels oboInOwl:hasDbXref OMIM:123320 semapv:UnspecifiedMatching -DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:494 semapv:UnspecifiedMatching -DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:3092 semapv:UnspecifiedMatching -DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref UMLS_CUI:C0265964 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref MESH:C536457 semapv:UnspecifiedMatching DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref OMIM:124500 semapv:UnspecifiedMatching -DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref GARD:5243 semapv:UnspecifiedMatching -DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching +DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:3092 semapv:UnspecifiedMatching +DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref ORDO:494 semapv:UnspecifiedMatching +DOID:0111339 Vohwinkel syndrome oboInOwl:hasDbXref UMLS_CUI:C0265964 semapv:UnspecifiedMatching DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref UMLS_CUI:C3276549 semapv:UnspecifiedMatching +DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching +DOID:0111340 dominant optic atrophy plus syndrome oboInOwl:hasDbXref GARD:5243 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref MESH:C565114 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref OMIM:125350 semapv:UnspecifiedMatching DOID:0111341 primary failure of tooth eruption oboInOwl:hasDbXref ORDO:412206 semapv:UnspecifiedMatching @@ -9723,22 +9749,22 @@ DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref MESH:C53537 DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref OMIM:125595 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref ORDO:86920 semapv:UnspecifiedMatching DOID:0111342 dermatopathia pigmentosa reticularis oboInOwl:hasDbXref UMLS_CUI:C0406778 semapv:UnspecifiedMatching -DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref UMLS_CUI:C1851710 semapv:UnspecifiedMatching -DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref ORDO:2789 semapv:UnspecifiedMatching -DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref GARD:9873 semapv:UnspecifiedMatching DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref MESH:C537878 semapv:UnspecifiedMatching +DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching +DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref ORDO:2789 semapv:UnspecifiedMatching +DOID:0111343 lateral meningocele syndrome oboInOwl:hasDbXref UMLS_CUI:C1851710 semapv:UnspecifiedMatching DOID:0111344 myeloproliferative disorder with eosinophilia oboInOwl:hasDbXref OMIM:131440 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref GARD:10010 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref MESH:C536979 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref OMIM:131705 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref ORDO:79411 semapv:UnspecifiedMatching DOID:0111345 transient bullous dermolysis of the newborn oboInOwl:hasDbXref UMLS_CUI:C1851573 semapv:UnspecifiedMatching -DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS_CUI:C0432316 semapv:UnspecifiedMatching -DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ORDO:79397 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref GARD:9737 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref MESH:C535959 semapv:UnspecifiedMatching DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref OMIM:131960 semapv:UnspecifiedMatching +DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref ORDO:79397 semapv:UnspecifiedMatching +DOID:0111346 epidermolysis bullosa simplex with mottled pigmentation oboInOwl:hasDbXref UMLS_CUI:C0432316 semapv:UnspecifiedMatching DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails oboInOwl:hasDbXref MESH:C562638 semapv:UnspecifiedMatching DOID:0111347 epidermolysis bullosa with congenital localized absence of skin and deformity of nails oboInOwl:hasDbXref OMIM:132000 semapv:UnspecifiedMatching DOID:0111348 multiple epiphyseal dysplasia with myopia and deafness oboInOwl:hasDbXref UMLS_CUI:C1851536 semapv:UnspecifiedMatching @@ -9757,45 +9783,45 @@ DOID:0111351 D-2-hydroxyglutaric aciduria 1 oboInOwl:hasDbXref OMIM:600721 semap DOID:0111352 D-2-hydroxyglutaric aciduria 2 oboInOwl:hasDbXref OMIM:613657 semapv:UnspecifiedMatching DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 oboInOwl:hasDbXref OMIM:208085 semapv:UnspecifiedMatching DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 oboInOwl:hasDbXref OMIM:613404 semapv:UnspecifiedMatching -DOID:0111355 hydrolethalus syndrome 1 oboInOwl:hasDbXref OMIM:236680 semapv:UnspecifiedMatching DOID:0111355 hydrolethalus syndrome 1 oboInOwl:hasDbXref MESH:C565504 semapv:UnspecifiedMatching +DOID:0111355 hydrolethalus syndrome 1 oboInOwl:hasDbXref OMIM:236680 semapv:UnspecifiedMatching DOID:0111356 hydrolethalus syndrome 2 oboInOwl:hasDbXref OMIM:614120 semapv:UnspecifiedMatching +DOID:0111357 adermatoglyphia oboInOwl:hasDbXref ORDO:289465 semapv:UnspecifiedMatching DOID:0111357 adermatoglyphia oboInOwl:hasDbXref GARD:12550 semapv:UnspecifiedMatching DOID:0111357 adermatoglyphia oboInOwl:hasDbXref OMIM:136000 semapv:UnspecifiedMatching -DOID:0111357 adermatoglyphia oboInOwl:hasDbXref ORDO:289465 semapv:UnspecifiedMatching -DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS_CUI:C0729582 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref GARD:6455 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref MESH:C537062 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref NCI:C175241 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref OMIM:136140 semapv:UnspecifiedMatching DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref ORDO:2044 semapv:UnspecifiedMatching +DOID:0111358 Floating-Harbor syndrome oboInOwl:hasDbXref UMLS_CUI:C0729582 semapv:UnspecifiedMatching +DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1318558 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref ORDO:626 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1842036 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1318558 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C4234 semapv:UnspecifiedMatching -DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C3944 semapv:UnspecifiedMatching +DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref UMLS_CUI:C1842036 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref MESH:C536819 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref MEDDRA:10072036 semapv:UnspecifiedMatching DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref GARD:2469 semapv:UnspecifiedMatching +DOID:0111359 large congenital melanocytic nevus oboInOwl:hasDbXref NCI:C3944 semapv:UnspecifiedMatching DOID:0111360 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome oboInOwl:hasDbXref OMIM:137940 semapv:UnspecifiedMatching DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome oboInOwl:hasDbXref MESH:C564327 semapv:UnspecifiedMatching DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome oboInOwl:hasDbXref OMIM:607823 semapv:UnspecifiedMatching +DOID:0111362 hawkinsinuria oboInOwl:hasDbXref UMLS_CUI:C2931042 semapv:UnspecifiedMatching +DOID:0111362 hawkinsinuria oboInOwl:hasDbXref ORDO:2118 semapv:UnspecifiedMatching +DOID:0111362 hawkinsinuria oboInOwl:hasDbXref OMIM:140350 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref GARD:5668 semapv:UnspecifiedMatching DOID:0111362 hawkinsinuria oboInOwl:hasDbXref MESH:C535845 semapv:UnspecifiedMatching -DOID:0111362 hawkinsinuria oboInOwl:hasDbXref OMIM:140350 semapv:UnspecifiedMatching -DOID:0111362 hawkinsinuria oboInOwl:hasDbXref ORDO:2118 semapv:UnspecifiedMatching -DOID:0111362 hawkinsinuria oboInOwl:hasDbXref UMLS_CUI:C2931042 semapv:UnspecifiedMatching DOID:0111363 Heinz body anemia oboInOwl:hasDbXref GARD:10718 semapv:UnspecifiedMatching DOID:0111363 Heinz body anemia oboInOwl:hasDbXref OMIM:140700 semapv:UnspecifiedMatching DOID:0111364 Alzheimer's disease 9 oboInOwl:hasDbXref OMIM:608907 semapv:UnspecifiedMatching DOID:0111365 benign familial hematuria oboInOwl:hasDbXref OMIM:141200 semapv:UnspecifiedMatching DOID:0111366 familial hepatic adenoma oboInOwl:hasDbXref OMIM:142330 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref GARD:2690 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching -DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref ORDO:2114 semapv:UnspecifiedMatching DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref UMLS_CUI:C1840572 semapv:UnspecifiedMatching +DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref ORDO:2114 semapv:UnspecifiedMatching +DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref OMIM:142669 semapv:UnspecifiedMatching +DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching +DOID:0111367 Beukes hip dysplasia oboInOwl:hasDbXref GARD:2690 semapv:UnspecifiedMatching DOID:0111368 cholesterol-ester transfer protein deficiency oboInOwl:hasDbXref ORDO:79506 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref MESH:C564591 semapv:UnspecifiedMatching DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref NCI:C128806 semapv:UnspecifiedMatching @@ -9803,14 +9829,14 @@ DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref OMIM:143470 semapv:U DOID:0111369 hyperalphalipoproteinemia 1 oboInOwl:hasDbXref UMLS_CUI:C0342883 semapv:UnspecifiedMatching DOID:0111370 apolipoprotein C-III deficiency oboInOwl:hasDbXref MESH:C566270 semapv:UnspecifiedMatching DOID:0111370 apolipoprotein C-III deficiency oboInOwl:hasDbXref OMIM:614028 semapv:UnspecifiedMatching +DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref ORDO:542657 semapv:UnspecifiedMatching DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref UMLS_CUI:C1840437 semapv:UnspecifiedMatching -DOID:0111371 isolated hyperchlorhidrosis oboInOwl:hasDbXref OMIM:143860 semapv:UnspecifiedMatching DOID:0111373 familial progressive hyperpigmentation with or without hypopigmentation oboInOwl:hasDbXref OMIM:145250 semapv:UnspecifiedMatching +DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref UMLS_CUI:C1840364 semapv:UnspecifiedMatching +DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref ORDO:165994 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref MESH:C564154 semapv:UnspecifiedMatching DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching -DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref ORDO:165994 semapv:UnspecifiedMatching -DOID:0111374 selective pituitary thyroid hormone resistance oboInOwl:hasDbXref UMLS_CUI:C1840364 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref GARD:9634 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref MESH:C536647 semapv:UnspecifiedMatching DOID:0111375 fetal akinesia deformation sequence syndrome oboInOwl:hasDbXref NCI:C129071 semapv:UnspecifiedMatching @@ -9823,11 +9849,11 @@ DOID:0111378 fetal akinesia deformation sequence syndrome 2 oboInOwl:hasDbXref O DOID:0111379 fetal akinesia deformation sequence syndrome 4 oboInOwl:hasDbXref OMIM:618393 semapv:UnspecifiedMatching DOID:0111380 solitary median maxillary central incisor oboInOwl:hasDbXref GARD:4877 semapv:UnspecifiedMatching DOID:0111380 solitary median maxillary central incisor oboInOwl:hasDbXref OMIM:147250 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome oboInOwl:hasDbXref GARD:269 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome oboInOwl:hasDbXref MESH:C535544 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching -DOID:0111381 IVIC syndrome oboInOwl:hasDbXref ORDO:2307 semapv:UnspecifiedMatching DOID:0111381 IVIC syndrome oboInOwl:hasDbXref UMLS_CUI:C1327918 semapv:UnspecifiedMatching +DOID:0111381 IVIC syndrome oboInOwl:hasDbXref ORDO:2307 semapv:UnspecifiedMatching +DOID:0111381 IVIC syndrome oboInOwl:hasDbXref OMIM:147750 semapv:UnspecifiedMatching +DOID:0111381 IVIC syndrome oboInOwl:hasDbXref MESH:C535544 semapv:UnspecifiedMatching +DOID:0111381 IVIC syndrome oboInOwl:hasDbXref GARD:269 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref GARD:3030 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref MESH:C535540 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref MESH:C536307 semapv:UnspecifiedMatching @@ -9835,91 +9861,91 @@ DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref OMIM:147891 sema DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref ORDO:1509 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS_CUI:C1840061 semapv:UnspecifiedMatching DOID:0111382 ischiocoxopodopatellar syndrome oboInOwl:hasDbXref UMLS_CUI:C1868581 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref UMLS_CUI:C1835698 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref ORDO:2334 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching -DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref GARD:3089 semapv:UnspecifiedMatching +DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref MESH:C537022 semapv:UnspecifiedMatching +DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref OMIM:148190 semapv:UnspecifiedMatching +DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref ORDO:2334 semapv:UnspecifiedMatching +DOID:0111383 autosomal dominant keratitis oboInOwl:hasDbXref UMLS_CUI:C1835698 semapv:UnspecifiedMatching DOID:0111384 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 oboInOwl:hasDbXref OMIM:615422 semapv:UnspecifiedMatching DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 oboInOwl:hasDbXref OMIM:167320 semapv:UnspecifiedMatching DOID:0111386 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 oboInOwl:hasDbXref OMIM:615424 semapv:UnspecifiedMatching DOID:0111387 familial isolated hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching DOID:0111388 X-linked hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref UMLS_CUI:C0086431 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref ORDO:93476 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching +DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref GARD:12560 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref ICD10CM:E76.02 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching -DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref GARD:12560 semapv:UnspecifiedMatching DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref NCI:C122782 semapv:UnspecifiedMatching -DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ORDO:93473 semapv:UnspecifiedMatching +DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref OMIM:607015 semapv:UnspecifiedMatching +DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref ORDO:93476 semapv:UnspecifiedMatching +DOID:0111389 mucopolysaccharidosis Ih/s oboInOwl:hasDbXref UMLS_CUI:C0086431 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref UMLS_CUI:C0086795 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref OMIM:607014 semapv:UnspecifiedMatching +DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref NCI:C61261 semapv:UnspecifiedMatching +DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ORDO:93473 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref ICD10CM:E76.01 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref GARD:12559 semapv:UnspecifiedMatching -DOID:0111390 mucopolysaccharidosis Ih oboInOwl:hasDbXref NCI:C61261 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref GARD:3785 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ICD10CM:E76.210 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref NCI:C84901 semapv:UnspecifiedMatching -DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ORDO:309297 semapv:UnspecifiedMatching +DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref OMIM:253000 semapv:UnspecifiedMatching +DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref NCI:C84901 semapv:UnspecifiedMatching DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref UMLS_CUI:C0086651 semapv:UnspecifiedMatching +DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref ICD10CM:E76.210 semapv:UnspecifiedMatching +DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref GARD:3785 semapv:UnspecifiedMatching +DOID:0111391 mucopolysaccharidosis IVA oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching +DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ICD10CM:E76.211 semapv:UnspecifiedMatching +DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching +DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref NCI:C84902 semapv:UnspecifiedMatching +DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ORDO:309310 semapv:UnspecifiedMatching DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref UMLS_CUI:C0086652 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref NCI:C84902 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching -DOID:0111392 mucopolysaccharidosis type IVB oboInOwl:hasDbXref ICD10CM:E76.211 semapv:UnspecifiedMatching +DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ORDO:79271 semapv:UnspecifiedMatching +DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref UMLS_CUI:C0086649 semapv:UnspecifiedMatching +DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref GARD:7073 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching +DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref NCI:C84899 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref OMIM:252930 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref ORDO:79271 semapv:UnspecifiedMatching -DOID:0111393 mucopolysaccharidosis type IIIC oboInOwl:hasDbXref UMLS_CUI:C0086649 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref UMLS_CUI:C0086648 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref NCI:C84898 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ORDO:79270 semapv:UnspecifiedMatching +DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref GARD:7072 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching -DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref GARD:7072 semapv:UnspecifiedMatching +DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref NCI:C84898 semapv:UnspecifiedMatching +DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref OMIM:252920 semapv:UnspecifiedMatching +DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref ORDO:79270 semapv:UnspecifiedMatching +DOID:0111394 mucopolysaccharidosis type IIIB oboInOwl:hasDbXref UMLS_CUI:C0086648 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref ORDO:79269 semapv:UnspecifiedMatching -DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref UMLS_CUI:C0086647 semapv:UnspecifiedMatching +DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching +DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref NCI:C84897 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching -DOID:0111395 mucopolysaccharidosis type IIIA oboInOwl:hasDbXref NCI:C84897 semapv:UnspecifiedMatching DOID:0111396 congenital dyserythropoietic anemia type I oboInOwl:hasDbXref GARD:2000 semapv:UnspecifiedMatching DOID:0111396 congenital dyserythropoietic anemia type I oboInOwl:hasDbXref ORDO:98869 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref OMIM:615631 semapv:UnspecifiedMatching DOID:0111397 congenital dyserythropoietic anemia type Ib oboInOwl:hasDbXref UMLS_CUI:C0271933 semapv:UnspecifiedMatching DOID:0111398 congenital dyserythropoietic anemia type Ia oboInOwl:hasDbXref OMIM:224120 semapv:UnspecifiedMatching -DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ORDO:98870 semapv:UnspecifiedMatching -DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching -DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS_CUI:C0271934 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref GARD:2002 semapv:UnspecifiedMatching DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching -DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref NCI:C157148 semapv:UnspecifiedMatching -DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching -DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ORDO:293825 semapv:UnspecifiedMatching +DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref OMIM:105600 semapv:UnspecifiedMatching +DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref ORDO:98870 semapv:UnspecifiedMatching +DOID:0111399 congenital dyserythropoietic anemia type III oboInOwl:hasDbXref UMLS_CUI:C0271934 semapv:UnspecifiedMatching DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS_CUI:C3150926 semapv:UnspecifiedMatching +DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref ORDO:293825 semapv:UnspecifiedMatching +DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching +DOID:0111400 congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref NCI:C157148 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref GARD:2001 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref NCI:C175991 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref OMIM:224100 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref ORDO:98873 semapv:UnspecifiedMatching DOID:0111401 congenital dyserythropoietic anemia type II oboInOwl:hasDbXref UMLS_CUI:C1306589 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref UMLS_CUI:C0086650 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ORDO:79272 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching -DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref GARD:7074 semapv:UnspecifiedMatching +DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ICD10CM:E76.22 semapv:UnspecifiedMatching +DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref MESH:D009084 semapv:UnspecifiedMatching DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref NCI:C84900 semapv:UnspecifiedMatching +DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref OMIM:252940 semapv:UnspecifiedMatching +DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref ORDO:79272 semapv:UnspecifiedMatching +DOID:0111402 mucopolysaccharidosis type IIID oboInOwl:hasDbXref UMLS_CUI:C0086650 semapv:UnspecifiedMatching DOID:0111403 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations oboInOwl:hasDbXref OMIM:618273 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref GARD:1463 semapv:UnspecifiedMatching DOID:0111404 Jalili syndrome oboInOwl:hasDbXref MESH:C000596385 semapv:UnspecifiedMatching @@ -9931,27 +9957,27 @@ DOID:0111406 Fraser syndrome 3 oboInOwl:hasDbXref OMIM:617667 semapv:Unspecified DOID:0111407 Fraser syndrome 2 oboInOwl:hasDbXref OMIM:617666 semapv:UnspecifiedMatching DOID:0111408 exudative vitreoretinopathy 5 oboInOwl:hasDbXref MESH:C567648 semapv:UnspecifiedMatching DOID:0111408 exudative vitreoretinopathy 5 oboInOwl:hasDbXref OMIM:613310 semapv:UnspecifiedMatching -DOID:0111409 exudative vitreoretinopathy 3 oboInOwl:hasDbXref OMIM:605750 semapv:UnspecifiedMatching DOID:0111409 exudative vitreoretinopathy 3 oboInOwl:hasDbXref MESH:C565297 semapv:UnspecifiedMatching +DOID:0111409 exudative vitreoretinopathy 3 oboInOwl:hasDbXref OMIM:605750 semapv:UnspecifiedMatching DOID:0111410 exudative vitreoretinopathy 6 oboInOwl:hasDbXref OMIM:616468 semapv:UnspecifiedMatching DOID:0111411 exudative vitreoretinopathy 4 oboInOwl:hasDbXref MESH:C566619 semapv:UnspecifiedMatching DOID:0111411 exudative vitreoretinopathy 4 oboInOwl:hasDbXref OMIM:601813 semapv:UnspecifiedMatching -DOID:0111412 exudative vitreoretinopathy 1 oboInOwl:hasDbXref MESH:C536382 semapv:UnspecifiedMatching DOID:0111412 exudative vitreoretinopathy 1 oboInOwl:hasDbXref OMIM:133780 semapv:UnspecifiedMatching +DOID:0111412 exudative vitreoretinopathy 1 oboInOwl:hasDbXref MESH:C536382 semapv:UnspecifiedMatching DOID:0111413 X-linked exudative vitreoretinopathy 2 oboInOwl:hasDbXref OMIM:305390 semapv:UnspecifiedMatching -DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref MESH:C565627 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref GARD:5258 semapv:UnspecifiedMatching +DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref MESH:C565627 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref OMIMPS:222470 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref ORDO:84064 semapv:UnspecifiedMatching DOID:0111414 trichohepatoenteric syndrome oboInOwl:hasDbXref UMLS_CUI:C1857276 semapv:UnspecifiedMatching DOID:0111415 trichohepatoenteric syndrome 1 oboInOwl:hasDbXref OMIM:222470 semapv:UnspecifiedMatching DOID:0111416 trichohepatoenteric syndrome 2 oboInOwl:hasDbXref OMIM:614602 semapv:UnspecifiedMatching DOID:0111417 familial chylomicronemia syndrome oboInOwl:hasDbXref ORDO:444490 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS_CUI:C1720779 semapv:UnspecifiedMatching -DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS_CUI:C0268199 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref MESH:D008072 semapv:UnspecifiedMatching +DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref OMIM:207750 semapv:UnspecifiedMatching DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref ORDO:309020 semapv:UnspecifiedMatching +DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS_CUI:C0268199 semapv:UnspecifiedMatching +DOID:0111418 familial apolipoprotein C-II deficiency oboInOwl:hasDbXref UMLS_CUI:C1720779 semapv:UnspecifiedMatching DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity oboInOwl:hasDbXref OMIM:118830 semapv:UnspecifiedMatching DOID:0111420 familial GPIHBP1 deficiency oboInOwl:hasDbXref OMIM:615947 semapv:UnspecifiedMatching DOID:0111420 familial GPIHBP1 deficiency oboInOwl:hasDbXref ORDO:535458 semapv:UnspecifiedMatching @@ -9980,11 +10006,11 @@ DOID:0111435 optic atrophy 6 oboInOwl:hasDbXref OMIM:258500 semapv:UnspecifiedMa DOID:0111436 optic atrophy 11 oboInOwl:hasDbXref OMIM:617302 semapv:UnspecifiedMatching DOID:0111437 optic atrophy 7 oboInOwl:hasDbXref MESH:C567833 semapv:UnspecifiedMatching DOID:0111437 optic atrophy 7 oboInOwl:hasDbXref OMIM:612989 semapv:UnspecifiedMatching -DOID:0111438 optic atrophy 5 oboInOwl:hasDbXref OMIM:610708 semapv:UnspecifiedMatching DOID:0111438 optic atrophy 5 oboInOwl:hasDbXref MESH:C537126 semapv:UnspecifiedMatching +DOID:0111438 optic atrophy 5 oboInOwl:hasDbXref OMIM:610708 semapv:UnspecifiedMatching DOID:0111439 optic atrophy 8 oboInOwl:hasDbXref OMIM:616648 semapv:UnspecifiedMatching -DOID:0111440 optic atrophy 4 oboInOwl:hasDbXref MESH:C565343 semapv:UnspecifiedMatching DOID:0111440 optic atrophy 4 oboInOwl:hasDbXref OMIM:605293 semapv:UnspecifiedMatching +DOID:0111440 optic atrophy 4 oboInOwl:hasDbXref MESH:C565343 semapv:UnspecifiedMatching DOID:0111441 optic atrophy 1 oboInOwl:hasDbXref OMIM:165500 semapv:UnspecifiedMatching DOID:0111442 optic atrophy 9 oboInOwl:hasDbXref OMIM:616289 semapv:UnspecifiedMatching DOID:0111443 optic atrophy 2 oboInOwl:hasDbXref OMIM:311050 semapv:UnspecifiedMatching @@ -9994,15 +10020,15 @@ DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref ORDO:163696 sem DOID:0111444 progressive myoclonus epilepsy 4 oboInOwl:hasDbXref UMLS_CUI:C0751779 semapv:UnspecifiedMatching DOID:0111445 progressive myoclonus epilepsy 10 oboInOwl:hasDbXref OMIM:616640 semapv:UnspecifiedMatching DOID:0111445 progressive myoclonus epilepsy 10 oboInOwl:hasDbXref ORDO:324290 semapv:UnspecifiedMatching -DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref UMLS_CUI:C2673257 semapv:UnspecifiedMatching -DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref ORDO:263516 semapv:UnspecifiedMatching +DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref OMIM:611726 semapv:UnspecifiedMatching +DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref UMLS_CUI:C2673257 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref GARD:2167 semapv:UnspecifiedMatching DOID:0111446 progressive myoclonus epilepsy 3 oboInOwl:hasDbXref MESH:C567095 semapv:UnspecifiedMatching +DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref UMLS_CUI:C4015420 semapv:UnspecifiedMatching +DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref ORDO:435438 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref NCI:C142804 semapv:UnspecifiedMatching DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref OMIM:616187 semapv:UnspecifiedMatching -DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref ORDO:435438 semapv:UnspecifiedMatching -DOID:0111447 progressive myoclonus epilepsy 7 oboInOwl:hasDbXref UMLS_CUI:C4015420 semapv:UnspecifiedMatching DOID:0111448 progressive myoclonus epilepsy 1B oboInOwl:hasDbXref OMIM:612437 semapv:UnspecifiedMatching DOID:0111449 progressive myoclonus epilepsy 6 oboInOwl:hasDbXref GARD:3872 semapv:UnspecifiedMatching DOID:0111449 progressive myoclonus epilepsy 6 oboInOwl:hasDbXref OMIM:614018 semapv:UnspecifiedMatching @@ -10012,26 +10038,26 @@ DOID:0111450 progressive myoclonus epilepsy 9 oboInOwl:hasDbXref ORDO:457265 sem DOID:0111451 progressive myoclonus epilepsy 8 oboInOwl:hasDbXref OMIM:616230 semapv:UnspecifiedMatching DOID:0111451 progressive myoclonus epilepsy 8 oboInOwl:hasDbXref ORDO:424027 semapv:UnspecifiedMatching DOID:0111452 progressive myoclonus epilepsy 1A oboInOwl:hasDbXref OMIM:254800 semapv:UnspecifiedMatching -DOID:0111453 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ORDO:79154 semapv:UnspecifiedMatching DOID:0111453 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref OMIM:204750 semapv:UnspecifiedMatching -DOID:0111454 SHORT syndrome oboInOwl:hasDbXref GARD:7633 semapv:UnspecifiedMatching +DOID:0111453 2-aminoadipic 2-oxoadipic aciduria oboInOwl:hasDbXref ORDO:79154 semapv:UnspecifiedMatching +DOID:0111454 SHORT syndrome oboInOwl:hasDbXref UMLS_CUI:C0878684 semapv:UnspecifiedMatching +DOID:0111454 SHORT syndrome oboInOwl:hasDbXref ORDO:3163 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching DOID:0111454 SHORT syndrome oboInOwl:hasDbXref OMIM:269880 semapv:UnspecifiedMatching -DOID:0111454 SHORT syndrome oboInOwl:hasDbXref ORDO:3163 semapv:UnspecifiedMatching -DOID:0111454 SHORT syndrome oboInOwl:hasDbXref UMLS_CUI:C0878684 semapv:UnspecifiedMatching +DOID:0111454 SHORT syndrome oboInOwl:hasDbXref GARD:7633 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref GARD:1 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref MESH:C537934 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref OMIM:603358 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref ORDO:53693 semapv:UnspecifiedMatching DOID:0111455 GRACILE syndrome oboInOwl:hasDbXref UMLS_CUI:C1864002 semapv:UnspecifiedMatching -DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref ORDO:2707 semapv:UnspecifiedMatching -DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching -DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref UMLS_CUI:C1855663 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref GARD:3084 semapv:UnspecifiedMatching DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref MESH:C537013 semapv:UnspecifiedMatching +DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching +DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref ORDO:2707 semapv:UnspecifiedMatching +DOID:0111456 Kaufman oculocerebrofacial syndrome oboInOwl:hasDbXref UMLS_CUI:C1855663 semapv:UnspecifiedMatching +DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref ORDO:425120 semapv:UnspecifiedMatching DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref GARD:12357 semapv:UnspecifiedMatching -DOID:0111457 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref GARD:5392 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching DOID:0111458 galactose epimerase deficiency oboInOwl:hasDbXref OMIM:230350 semapv:UnspecifiedMatching @@ -10061,11 +10087,11 @@ DOID:0111470 combined oxidative phosphorylation deficiency 28 oboInOwl:hasDbXref DOID:0111470 combined oxidative phosphorylation deficiency 28 oboInOwl:hasDbXref ORDO:466784 semapv:UnspecifiedMatching DOID:0111471 combined oxidative phosphorylation deficiency 30 oboInOwl:hasDbXref OMIM:616974 semapv:UnspecifiedMatching DOID:0111471 combined oxidative phosphorylation deficiency 30 oboInOwl:hasDbXref ORDO:478042 semapv:UnspecifiedMatching -DOID:0111472 combined oxidative phosphorylation deficiency 9 oboInOwl:hasDbXref ORDO:319509 semapv:UnspecifiedMatching DOID:0111472 combined oxidative phosphorylation deficiency 9 oboInOwl:hasDbXref OMIM:614582 semapv:UnspecifiedMatching +DOID:0111472 combined oxidative phosphorylation deficiency 9 oboInOwl:hasDbXref ORDO:319509 semapv:UnspecifiedMatching +DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref ORDO:137908 semapv:UnspecifiedMatching DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref MESH:C567126 semapv:UnspecifiedMatching DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref OMIM:611719 semapv:UnspecifiedMatching -DOID:0111473 combined oxidative phosphorylation deficiency 5 oboInOwl:hasDbXref ORDO:137908 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref MESH:C563797 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref NCI:C125663 semapv:UnspecifiedMatching DOID:0111474 combined oxidative phosphorylation deficiency 1 oboInOwl:hasDbXref OMIM:609060 semapv:UnspecifiedMatching @@ -10076,10 +10102,10 @@ DOID:0111476 combined oxidative phosphorylation deficiency 19 oboInOwl:hasDbXref DOID:0111476 combined oxidative phosphorylation deficiency 19 oboInOwl:hasDbXref ORDO:397593 semapv:UnspecifiedMatching DOID:0111477 combined oxidative phosphorylation deficiency 14 oboInOwl:hasDbXref OMIM:614946 semapv:UnspecifiedMatching DOID:0111477 combined oxidative phosphorylation deficiency 14 oboInOwl:hasDbXref ORDO:319519 semapv:UnspecifiedMatching -DOID:0111478 combined oxidative phosphorylation deficiency 20 oboInOwl:hasDbXref ORDO:420728 semapv:UnspecifiedMatching DOID:0111478 combined oxidative phosphorylation deficiency 20 oboInOwl:hasDbXref OMIM:615917 semapv:UnspecifiedMatching -DOID:0111479 combined oxidative phosphorylation deficiency 8 oboInOwl:hasDbXref OMIM:614096 semapv:UnspecifiedMatching +DOID:0111478 combined oxidative phosphorylation deficiency 20 oboInOwl:hasDbXref ORDO:420728 semapv:UnspecifiedMatching DOID:0111479 combined oxidative phosphorylation deficiency 8 oboInOwl:hasDbXref ORDO:319504 semapv:UnspecifiedMatching +DOID:0111479 combined oxidative phosphorylation deficiency 8 oboInOwl:hasDbXref OMIM:614096 semapv:UnspecifiedMatching DOID:0111480 combined oxidative phosphorylation deficiency 10 oboInOwl:hasDbXref OMIM:614702 semapv:UnspecifiedMatching DOID:0111480 combined oxidative phosphorylation deficiency 10 oboInOwl:hasDbXref ORDO:314637 semapv:UnspecifiedMatching DOID:0111481 combined oxidative phosphorylation deficiency 11 oboInOwl:hasDbXref OMIM:614922 semapv:UnspecifiedMatching @@ -10090,8 +10116,8 @@ DOID:0111483 combined oxidative phosphorylation deficiency 2 oboInOwl:hasDbXref DOID:0111483 combined oxidative phosphorylation deficiency 2 oboInOwl:hasDbXref ORDO:254920 semapv:UnspecifiedMatching DOID:0111484 combined oxidative phosphorylation deficiency 18 oboInOwl:hasDbXref OMIM:615578 semapv:UnspecifiedMatching DOID:0111484 combined oxidative phosphorylation deficiency 18 oboInOwl:hasDbXref ORDO:391348 semapv:UnspecifiedMatching -DOID:0111485 combined oxidative phosphorylation deficiency 24 oboInOwl:hasDbXref ORDO:444458 semapv:UnspecifiedMatching DOID:0111485 combined oxidative phosphorylation deficiency 24 oboInOwl:hasDbXref OMIM:616239 semapv:UnspecifiedMatching +DOID:0111485 combined oxidative phosphorylation deficiency 24 oboInOwl:hasDbXref ORDO:444458 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref UMLS_CUI:C1864840 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref ORDO:168566 semapv:UnspecifiedMatching DOID:0111486 combined oxidative phosphorylation deficiency 3 oboInOwl:hasDbXref OMIM:610505 semapv:UnspecifiedMatching @@ -10124,8 +10150,8 @@ DOID:0111499 combined oxidative phosphorylation deficiency 37 oboInOwl:hasDbXref DOID:0111500 combined oxidative phosphorylation deficiency 23 oboInOwl:hasDbXref OMIM:616198 semapv:UnspecifiedMatching DOID:0111500 combined oxidative phosphorylation deficiency 23 oboInOwl:hasDbXref ORDO:444013 semapv:UnspecifiedMatching DOID:0111501 combined oxidative phosphorylation deficiency 29 oboInOwl:hasDbXref OMIM:616811 semapv:UnspecifiedMatching -DOID:0111502 combined oxidative phosphorylation deficiency 6 oboInOwl:hasDbXref ORDO:238329 semapv:UnspecifiedMatching DOID:0111502 combined oxidative phosphorylation deficiency 6 oboInOwl:hasDbXref OMIM:300816 semapv:UnspecifiedMatching +DOID:0111502 combined oxidative phosphorylation deficiency 6 oboInOwl:hasDbXref ORDO:238329 semapv:UnspecifiedMatching DOID:0111503 Li-Fraumeni syndrome 1 oboInOwl:hasDbXref OMIM:151623 semapv:UnspecifiedMatching DOID:0111504 Li-Fraumeni syndrome 2 oboInOwl:hasDbXref MESH:C563755 semapv:UnspecifiedMatching DOID:0111504 Li-Fraumeni syndrome 2 oboInOwl:hasDbXref OMIM:609265 semapv:UnspecifiedMatching @@ -10134,33 +10160,33 @@ DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH: DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref ORDO:2202 semapv:UnspecifiedMatching DOID:0111505 palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS_CUI:C1835672 semapv:UnspecifiedMatching -DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref GARD:3102 semapv:UnspecifiedMatching -DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref MESH:C536164 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref OMIM:148500 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref ORDO:2198 semapv:UnspecifiedMatching +DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref GARD:3102 semapv:UnspecifiedMatching +DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref MESH:C536164 semapv:UnspecifiedMatching DOID:0111506 palmoplantar keratoderma-esophageal carcinoma syndrome oboInOwl:hasDbXref UMLS_CUI:C1835664 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref UMLS_CUI:C0432269 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref ORDO:2658 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref MESH:C537115 semapv:UnspecifiedMatching -DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref GARD:3223 semapv:UnspecifiedMatching DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref OMIM:151050 semapv:UnspecifiedMatching +DOID:0111507 Lenz-Majewski hyperostotic dwarfism oboInOwl:hasDbXref GARD:3223 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref GARD:4382 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref MESH:C563627 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref OMIM:151210 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref ORDO:85166 semapv:UnspecifiedMatching DOID:0111508 Torrance type platyspondylic dysplasia oboInOwl:hasDbXref UMLS_CUI:C1835437 semapv:UnspecifiedMatching -DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref ORDO:33001 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref GARD:333 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref MESH:C537710 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref NCI:C128191 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref OMIM:153400 semapv:UnspecifiedMatching +DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref ORDO:33001 semapv:UnspecifiedMatching DOID:0111509 lymphedema-distichiasis syndrome oboInOwl:hasDbXref UMLS_CUI:C0265345 semapv:UnspecifiedMatching -DOID:0111510 Marshall syndrome oboInOwl:hasDbXref ORDO:560 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref UMLS_CUI:C0265235 semapv:UnspecifiedMatching +DOID:0111510 Marshall syndrome oboInOwl:hasDbXref ORDO:560 semapv:UnspecifiedMatching +DOID:0111510 Marshall syndrome oboInOwl:hasDbXref OMIM:154780 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref NCI:C128115 semapv:UnspecifiedMatching -DOID:0111510 Marshall syndrome oboInOwl:hasDbXref GARD:6984 semapv:UnspecifiedMatching DOID:0111510 Marshall syndrome oboInOwl:hasDbXref MESH:C536025 semapv:UnspecifiedMatching -DOID:0111510 Marshall syndrome oboInOwl:hasDbXref OMIM:154780 semapv:UnspecifiedMatching +DOID:0111510 Marshall syndrome oboInOwl:hasDbXref GARD:6984 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref GARD:8468 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref MESH:C536149 semapv:UnspecifiedMatching DOID:0111511 melanoma and neural system tumor syndrome oboInOwl:hasDbXref NCI:C176905 semapv:UnspecifiedMatching @@ -10173,8 +10199,8 @@ DOID:0111512 metachondromatosis oboInOwl:hasDbXref OMIM:156250 semapv:Unspecifie DOID:0111512 metachondromatosis oboInOwl:hasDbXref ORDO:2499 semapv:UnspecifiedMatching DOID:0111512 metachondromatosis oboInOwl:hasDbXref UMLS_CUI:C0410530 semapv:UnspecifiedMatching DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ORDO:2504 semapv:UnspecifiedMatching -DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref GARD:3568 semapv:UnspecifiedMatching +DOID:0111513 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref GARD:3571 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref MESH:C537356 semapv:UnspecifiedMatching DOID:0111514 metatropic dysplasia oboInOwl:hasDbXref NCI:C175209 semapv:UnspecifiedMatching @@ -10195,44 +10221,44 @@ DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 oboInOwl DOID:0111523 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 oboInOwl:hasDbXref OMIM:617069 semapv:UnspecifiedMatching DOID:0111524 autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 oboInOwl:hasDbXref OMIM:618098 semapv:UnspecifiedMatching DOID:0111525 autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 oboInOwl:hasDbXref OMIM:610131 semapv:UnspecifiedMatching +DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref ORDO:247768 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref MESH:C567186 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref NCI:C120376 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref OMIM:158330 semapv:UnspecifiedMatching -DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref ORDO:247768 semapv:UnspecifiedMatching DOID:0111526 Mullerian aplasia and hyperandrogenism oboInOwl:hasDbXref UMLS_CUI:C2675014 semapv:UnspecifiedMatching -DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C1834569 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref ORDO:2590 semapv:UnspecifiedMatching +DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C1834569 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref OMIM:159950 semapv:UnspecifiedMatching -DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:C537563 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref GARD:3875 semapv:UnspecifiedMatching DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref GARD:3044 semapv:UnspecifiedMatching +DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy oboInOwl:hasDbXref MESH:C537563 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref GARD:3912 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref MESH:C538331 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref OMIM:161000 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref ORDO:69087 semapv:UnspecifiedMatching DOID:0111528 Naegeli-Franceschetti-Jadassohn syndrome oboInOwl:hasDbXref UMLS_CUI:C0343111 semapv:UnspecifiedMatching +DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref UMLS_CUI:C2931029 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref GARD:3986 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref MESH:C535816 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref OMIM:163000 semapv:UnspecifiedMatching DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref ORDO:624 semapv:UnspecifiedMatching -DOID:0111529 familial multiple nevi flammei oboInOwl:hasDbXref UMLS_CUI:C2931029 semapv:UnspecifiedMatching -DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref ORDO:2612 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref UMLS_CUI:C3854181 semapv:UnspecifiedMatching +DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref ORDO:2612 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref GARD:10291 semapv:UnspecifiedMatching DOID:0111530 linear nevus sebaceous syndrome oboInOwl:hasDbXref OMIM:163200 semapv:UnspecifiedMatching +DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ORDO:137902 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref GARD:8419 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ICD10CM:H47.03 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ICD9CM:377.43 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref MESH:D000080344 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref NCI:C98999 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref OMIM:165550 semapv:UnspecifiedMatching -DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref ORDO:137902 semapv:UnspecifiedMatching DOID:0111531 bilateral optic nerve hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0338502 semapv:UnspecifiedMatching +DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0432283 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref ORDO:2645 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref OMIM:166250 semapv:UnspecifiedMatching -DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0432283 semapv:UnspecifiedMatching -DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref GARD:4142 semapv:UnspecifiedMatching DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref MESH:C536050 semapv:UnspecifiedMatching +DOID:0111532 osteoglophonic dysplasia oboInOwl:hasDbXref GARD:4142 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref GARD:8698 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref MESH:C536039 semapv:UnspecifiedMatching DOID:0111533 gnathodiaphyseal dysplasia oboInOwl:hasDbXref OMIM:166260 semapv:UnspecifiedMatching @@ -10244,51 +10270,51 @@ DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref NCI DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref OMIM:166300 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref ORDO:2774 semapv:UnspecifiedMatching DOID:0111534 multicentric carpotarsal osteolysis syndrome oboInOwl:hasDbXref UMLS_CUI:C2674705 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref UMLS_CUI:C0334041 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref NCI:C132062 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref ORDO:2762 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MEDDRA:10048902 semapv:UnspecifiedMatching -DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MESH:C562735 semapv:UnspecifiedMatching +DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref OMIM:166350 semapv:UnspecifiedMatching DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref GARD:109 semapv:UnspecifiedMatching +DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MESH:C562735 semapv:UnspecifiedMatching +DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref MEDDRA:10048902 semapv:UnspecifiedMatching +DOID:0111535 progressive osseous heteroplasia oboInOwl:hasDbXref NCI:C132062 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref GARD:1044 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref MESH:C537415 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref ORDO:1306 semapv:UnspecifiedMatching DOID:0111536 Buschke-Ollendorff syndrome oboInOwl:hasDbXref UMLS_CUI:C0265514 semapv:UnspecifiedMatching -DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching -DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref NCI:C125385 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref OMIM:167400 semapv:UnspecifiedMatching +DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref NCI:C125385 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref ORDO:46348 semapv:UnspecifiedMatching -DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS_CUI:C1833661 semapv:UnspecifiedMatching DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref GARD:12854 semapv:UnspecifiedMatching -DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS_CUI:C0221055 semapv:UnspecifiedMatching +DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching +DOID:0111537 paroxysmal extreme pain disorder oboInOwl:hasDbXref UMLS_CUI:C1833661 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref OMIM:168300 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ORDO:684 semapv:UnspecifiedMatching -DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching +DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref NCI:C122790 semapv:UnspecifiedMatching +DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref UMLS_CUI:C0221055 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref ICD10CM:G71.19 semapv:UnspecifiedMatching DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref GARD:7325 semapv:UnspecifiedMatching -DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref NCI:C122790 semapv:UnspecifiedMatching -DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref GARD:4222 semapv:UnspecifiedMatching -DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching +DOID:0111538 paramyotonia congenita of Von Eulenburg oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref ORDO:2646 semapv:UnspecifiedMatching +DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref GARD:4222 semapv:UnspecifiedMatching +DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching DOID:0111539 parastremmatic dwarfism oboInOwl:hasDbXref UMLS_CUI:C1868616 semapv:UnspecifiedMatching +DOID:0111540 prolidase deficiency oboInOwl:hasDbXref ORDO:742 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268532 semapv:UnspecifiedMatching +DOID:0111540 prolidase deficiency oboInOwl:hasDbXref OMIM:170100 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref GARD:7473 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref MESH:D056732 semapv:UnspecifiedMatching DOID:0111540 prolidase deficiency oboInOwl:hasDbXref NCI:C85029 semapv:UnspecifiedMatching -DOID:0111540 prolidase deficiency oboInOwl:hasDbXref OMIM:170100 semapv:UnspecifiedMatching -DOID:0111540 prolidase deficiency oboInOwl:hasDbXref ORDO:742 semapv:UnspecifiedMatching +DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref MESH:C566801 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref OMIM:172870 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref ORDO:251295 semapv:UnspecifiedMatching -DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref MESH:C566801 semapv:UnspecifiedMatching DOID:0111541 pigmented paravenous chorioretinal atrophy oboInOwl:hasDbXref UMLS_CUI:C1868310 semapv:UnspecifiedMatching -DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref UMLS_CUI:C0432292 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref ORDO:85195 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching -DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching +DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref UMLS_CUI:C0432292 semapv:UnspecifiedMatching DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref GARD:9168 semapv:UnspecifiedMatching +DOID:0111542 familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 semapv:UnspecifiedMatching DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref GARD:4470 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref MESH:C538278 semapv:UnspecifiedMatching @@ -10296,61 +10322,61 @@ DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref OMIM:176305 semapv:Unspecifi DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref ORDO:2957 semapv:UnspecifiedMatching DOID:0111544 Guttmacher syndrome oboInOwl:hasDbXref UMLS_CUI:C1867801 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS_CUI:C0342549 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref ORDO:3000 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref UMLS_CUI:C1504412 semapv:UnspecifiedMatching -DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching +DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref ORDO:3000 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref GARD:4475 semapv:UnspecifiedMatching DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:D011629 semapv:UnspecifiedMatching +DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref MESH:C536961 semapv:UnspecifiedMatching +DOID:0111545 familial male-limited precocious puberty oboInOwl:hasDbXref OMIM:176410 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref GARD:1626 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref MESH:C536221 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref OMIM:176450 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref ORDO:1552 semapv:UnspecifiedMatching DOID:0111546 Currarino syndrome oboInOwl:hasDbXref UMLS_CUI:C1531773 semapv:UnspecifiedMatching -DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref ORDO:75326 semapv:UnspecifiedMatching DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching -DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref GARD:9696 semapv:UnspecifiedMatching +DOID:0111547 retinal arterial tortuosity oboInOwl:hasDbXref ORDO:75326 semapv:UnspecifiedMatching +DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref UMLS_CUI:C1867155 semapv:UnspecifiedMatching +DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref ORDO:91481 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref MESH:C535684 semapv:UnspecifiedMatching +DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref GARD:9696 semapv:UnspecifiedMatching DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref OMIM:180550 semapv:UnspecifiedMatching -DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref ORDO:91481 semapv:UnspecifiedMatching -DOID:0111548 ring dermoid of cornea oboInOwl:hasDbXref UMLS_CUI:C1867155 semapv:UnspecifiedMatching -DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ORDO:86815 semapv:UnspecifiedMatching -DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching -DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS_CUI:C0158667 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ICD9CM:750.21 semapv:UnspecifiedMatching DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref MESH:C562407 semapv:UnspecifiedMatching +DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref OMIM:180920 semapv:UnspecifiedMatching +DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref ORDO:86815 semapv:UnspecifiedMatching +DOID:0111549 aplasia of lacrimal and salivary glands oboInOwl:hasDbXref UMLS_CUI:C0158667 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref GARD:159 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref MESH:C536623 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref OMIM:181270 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref ORDO:2036 semapv:UnspecifiedMatching DOID:0111550 scalp-ear-nipple syndrome oboInOwl:hasDbXref UMLS_CUI:C1867020 semapv:UnspecifiedMatching -DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref GARD:10312 semapv:UnspecifiedMatching -DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref MESH:C566695 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref OMIM:181400 semapv:UnspecifiedMatching -DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref ORDO:85146 semapv:UnspecifiedMatching DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref UMLS_CUI:C1867005 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0751335 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ORDO:431255 semapv:UnspecifiedMatching -DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.1 semapv:UnspecifiedMatching +DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref ORDO:85146 semapv:UnspecifiedMatching +DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref MESH:C566695 semapv:UnspecifiedMatching +DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type oboInOwl:hasDbXref GARD:10312 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref GARD:10314 semapv:UnspecifiedMatching +DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.1 semapv:UnspecifiedMatching DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref MESH:D009134 semapv:UnspecifiedMatching +DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref OMIM:181405 semapv:UnspecifiedMatching +DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref ORDO:431255 semapv:UnspecifiedMatching +DOID:0111552 scapuloperoneal spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0751335 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref GARD:994 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref ORDO:263482 semapv:UnspecifiedMatching DOID:0111553 spondyloepiphyseal dysplasia Maroteaux type oboInOwl:hasDbXref UMLS_CUI:C3159322 semapv:UnspecifiedMatching -DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref UMLS_CUI:C0265280 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref ORDO:93314 semapv:UnspecifiedMatching -DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref MESH:C535797 semapv:UnspecifiedMatching -DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref GARD:3047 semapv:UnspecifiedMatching DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref OMIM:184252 semapv:UnspecifiedMatching +DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref UMLS_CUI:C0265280 semapv:UnspecifiedMatching +DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref GARD:3047 semapv:UnspecifiedMatching +DOID:0111554 spondylometaphyseal dysplasia Kozlowski type oboInOwl:hasDbXref MESH:C535797 semapv:UnspecifiedMatching DOID:0111555 Alkuraya-Kucinskas syndrome oboInOwl:hasDbXref OMIM:617822 semapv:UnspecifiedMatching -DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref ORDO:841 semapv:UnspecifiedMatching DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref GARD:5003 semapv:UnspecifiedMatching DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref MESH:D062685 semapv:UnspecifiedMatching DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref OMIM:184500 semapv:UnspecifiedMatching -DOID:0111557 Charcot-Marie-Tooth disease type 2A2B oboInOwl:hasDbXref ORDO:90118 semapv:UnspecifiedMatching +DOID:0111556 steatocystoma multiplex oboInOwl:hasDbXref ORDO:841 semapv:UnspecifiedMatching DOID:0111557 Charcot-Marie-Tooth disease type 2A2B oboInOwl:hasDbXref OMIM:617087 semapv:UnspecifiedMatching +DOID:0111557 Charcot-Marie-Tooth disease type 2A2B oboInOwl:hasDbXref ORDO:90118 semapv:UnspecifiedMatching DOID:0111558 Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref OMIM:618036 semapv:UnspecifiedMatching DOID:0111558 Charcot-Marie-Tooth disease type 2DD oboInOwl:hasDbXref ORDO:521414 semapv:UnspecifiedMatching DOID:0111559 Charcot-Marie-Tooth disease type 2EE oboInOwl:hasDbXref OMIM:618400 semapv:UnspecifiedMatching @@ -10365,52 +10391,52 @@ DOID:0111561 stiff skin syndrome oboInOwl:hasDbXref NCI:C118636 semapv:Unspecifi DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref GARD:4183 semapv:UnspecifiedMatching DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref OMIM:185000 semapv:UnspecifiedMatching DOID:0111562 overhydrated hereditary stomatocytosis oboInOwl:hasDbXref ORDO:3203 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref ORDO:3205 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS_CUI:C0038505 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref GARD:7706 semapv:UnspecifiedMatching -DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref ICD10CM:Q85.89 semapv:UnspecifiedMatching +DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref MESH:D013341 semapv:UnspecifiedMatching DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref NCI:C3391 semapv:UnspecifiedMatching +DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching +DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref ORDO:3205 semapv:UnspecifiedMatching +DOID:0111563 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS_CUI:C0038505 semapv:UnspecifiedMatching +DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref UMLS_CUI:C1861099 semapv:UnspecifiedMatching +DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:988 semapv:UnspecifiedMatching +DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:3332 semapv:UnspecifiedMatching +DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref GARD:8309 semapv:UnspecifiedMatching DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref MESH:C535564 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:3332 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref ORDO:988 semapv:UnspecifiedMatching -DOID:0111564 hypoplastic or aplastic tibia with polydactyly oboInOwl:hasDbXref UMLS_CUI:C1861099 semapv:UnspecifiedMatching -DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref UMLS_CUI:C0265333 semapv:UnspecifiedMatching -DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref OMIM:190320 semapv:UnspecifiedMatching -DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref ORDO:3352 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref GARD:7799 semapv:UnspecifiedMatching DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref MESH:C536549 semapv:UnspecifiedMatching -DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching +DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref OMIM:190320 semapv:UnspecifiedMatching +DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref ORDO:3352 semapv:UnspecifiedMatching +DOID:0111565 trichodontoosseous syndrome oboInOwl:hasDbXref UMLS_CUI:C0265333 semapv:UnspecifiedMatching DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref ORDO:411788 semapv:UnspecifiedMatching -DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C1860518 semapv:UnspecifiedMatching +DOID:0111566 familial isolated trichomegaly oboInOwl:hasDbXref OMIM:190330 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref GARD:1217 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref MESH:C566007 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref OMIM:192315 semapv:UnspecifiedMatching DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref ORDO:247691 semapv:UnspecifiedMatching +DOID:0111567 retinal vasculopathy with cerebral leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C1860518 semapv:UnspecifiedMatching +DOID:0111568 congenital vertical talus oboInOwl:hasDbXref UMLS_CUI:C0240912 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref ORDO:178382 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching -DOID:0111568 congenital vertical talus oboInOwl:hasDbXref UMLS_CUI:C0240912 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref MEDDRA:10066242 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref GARD:5488 semapv:UnspecifiedMatching DOID:0111568 congenital vertical talus oboInOwl:hasDbXref MESH:D005413 semapv:UnspecifiedMatching -DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS_CUI:C3888099 semapv:UnspecifiedMatching -DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ORDO:3086 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref GARD:5507 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref MESH:C536352 semapv:UnspecifiedMatching DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref OMIM:193220 semapv:UnspecifiedMatching +DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref ORDO:3086 semapv:UnspecifiedMatching +DOID:0111569 autosomal dominant vitreoretinochoroidopathy oboInOwl:hasDbXref UMLS_CUI:C3888099 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref GARD:9706 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref MESH:C536677 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref OMIM:193230 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref ORDO:91496 semapv:UnspecifiedMatching DOID:0111570 snowflake vitreoretinal degeneration oboInOwl:hasDbXref UMLS_CUI:C1860405 semapv:UnspecifiedMatching +DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C0457013 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref ORDO:952 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref GARD:497 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref OMIM:193530 semapv:UnspecifiedMatching -DOID:0111571 Weyers acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C0457013 semapv:UnspecifiedMatching DOID:0111572 familial woolly hair syndrome oboInOwl:hasDbXref GARD:5597 semapv:UnspecifiedMatching DOID:0111572 familial woolly hair syndrome oboInOwl:hasDbXref ORDO:170 semapv:UnspecifiedMatching DOID:0111573 autosomal dominant woolly hair oboInOwl:hasDbXref OMIM:194300 semapv:UnspecifiedMatching @@ -10421,41 +10447,41 @@ DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref ORDO:3202 s DOID:0111575 dehydrated hereditary stomatocytosis oboInOwl:hasDbXref UMLS_CUI:C0272051 semapv:UnspecifiedMatching DOID:0111576 dehydrated hereditary stomatocytosis 1 oboInOwl:hasDbXref OMIM:194380 semapv:UnspecifiedMatching DOID:0111577 dehydrated hereditary stomatocytosis 2 oboInOwl:hasDbXref OMIM:616689 semapv:UnspecifiedMatching -DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref GARD:13 semapv:UnspecifiedMatching -DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref MESH:C536370 semapv:UnspecifiedMatching +DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref UMLS_CUI:C0431401 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref OMIM:206700 semapv:UnspecifiedMatching DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref ORDO:1065 semapv:UnspecifiedMatching -DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref UMLS_CUI:C0431401 semapv:UnspecifiedMatching -DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref OMIM:208550 semapv:UnspecifiedMatching +DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref GARD:13 semapv:UnspecifiedMatching +DOID:0111578 Gillespie syndrome oboInOwl:hasDbXref MESH:C536370 semapv:UnspecifiedMatching DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref MESH:C565935 semapv:UnspecifiedMatching +DOID:0111579 asthma, nasal polyps, and aspirin intolerance oboInOwl:hasDbXref OMIM:208550 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref GARD:849 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref MESH:C537669 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref NCI:C177251 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref OMIM:210000 semapv:UnspecifiedMatching DOID:0111580 Behr syndrome oboInOwl:hasDbXref UMLS_CUI:C0221061 semapv:UnspecifiedMatching +DOID:0111581 C syndrome oboInOwl:hasDbXref ORDO:1308 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref GARD:5978 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref MESH:C537418 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref OMIM:211750 semapv:UnspecifiedMatching -DOID:0111581 C syndrome oboInOwl:hasDbXref ORDO:1308 semapv:UnspecifiedMatching DOID:0111581 C syndrome oboInOwl:hasDbXref UMLS_CUI:C0796095 semapv:UnspecifiedMatching DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref ORDO:289601 semapv:UnspecifiedMatching -DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref GARD:10762 semapv:UnspecifiedMatching DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref OMIM:211800 semapv:UnspecifiedMatching -DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref OMIM:212070 semapv:UnspecifiedMatching -DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref UMLS_CUI:C0398782 semapv:UnspecifiedMatching +DOID:0111582 hereditary arterial and articular multiple calcification syndrome oboInOwl:hasDbXref GARD:10762 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref MESH:C562876 semapv:UnspecifiedMatching DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref NCI:C132196 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref GARD:3373 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching +DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref OMIM:212070 semapv:UnspecifiedMatching +DOID:0111583 carboxypeptidase N deficiency oboInOwl:hasDbXref UMLS_CUI:C0398782 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS_CUI:C0796083 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS_CUI:C0796031 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ORDO:2229 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535703 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching +DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref GARD:3373 semapv:UnspecifiedMatching DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref NCI:C174217 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref ORDO:2229 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS_CUI:C0796031 semapv:UnspecifiedMatching -DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS_CUI:C0796083 semapv:UnspecifiedMatching +DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342791 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref ORDO:159 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref OMIM:212138 semapv:UnspecifiedMatching -DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342791 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref MESH:C562812 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref GARD:1123 semapv:UnspecifiedMatching DOID:0111585 carnitine-acylcarnitine translocase deficiency oboInOwl:hasDbXref NCI:C133086 semapv:UnspecifiedMatching @@ -10464,20 +10490,20 @@ DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref MESH:C536028 semapv:Unspecifie DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref OMIM:212720 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref ORDO:1387 semapv:UnspecifiedMatching DOID:0111586 Martsolf syndrome oboInOwl:hasDbXref UMLS_CUI:C0796037 semapv:UnspecifiedMatching -DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref UMLS_CUI:C1859305 semapv:UnspecifiedMatching -DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref ORDO:1173 semapv:UnspecifiedMatching -DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref OMIM:212840 semapv:UnspecifiedMatching DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref MESH:C565870 semapv:UnspecifiedMatching +DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref OMIM:212840 semapv:UnspecifiedMatching +DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref ORDO:1173 semapv:UnspecifiedMatching +DOID:0111587 Gordon Holmes syndrome oboInOwl:hasDbXref UMLS_CUI:C1859305 semapv:UnspecifiedMatching +DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref UMLS_CUI:C2931048 semapv:UnspecifiedMatching +DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref ORDO:1426 semapv:UnspecifiedMatching +DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref GARD:8754 semapv:UnspecifiedMatching DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref MESH:C535858 semapv:UnspecifiedMatching -DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref OMIM:215140 semapv:UnspecifiedMatching -DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref ORDO:1426 semapv:UnspecifiedMatching -DOID:0111588 Greenberg dysplasia oboInOwl:hasDbXref UMLS_CUI:C2931048 semapv:UnspecifiedMatching -DOID:0111589 COACH syndrome oboInOwl:hasDbXref UMLS_CUI:C1857662 semapv:UnspecifiedMatching +DOID:0111589 COACH syndrome oboInOwl:hasDbXref GARD:1410 semapv:UnspecifiedMatching +DOID:0111589 COACH syndrome oboInOwl:hasDbXref MESH:C536430 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref OMIM:216360 semapv:UnspecifiedMatching DOID:0111589 COACH syndrome oboInOwl:hasDbXref ORDO:1454 semapv:UnspecifiedMatching -DOID:0111589 COACH syndrome oboInOwl:hasDbXref MESH:C536430 semapv:UnspecifiedMatching -DOID:0111589 COACH syndrome oboInOwl:hasDbXref GARD:1410 semapv:UnspecifiedMatching +DOID:0111589 COACH syndrome oboInOwl:hasDbXref UMLS_CUI:C1857662 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref GARD:6126 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref MEDDRA:10049066 semapv:UnspecifiedMatching DOID:0111590 Cohen syndrome oboInOwl:hasDbXref MESH:C536438 semapv:UnspecifiedMatching @@ -10486,145 +10512,145 @@ DOID:0111590 Cohen syndrome oboInOwl:hasDbXref ORDO:193 semapv:UnspecifiedMatchi DOID:0111590 Cohen syndrome oboInOwl:hasDbXref UMLS_CUI:C0265223 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref UMLS_CUI:C2931046 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref ORDO:1338 semapv:UnspecifiedMatching -DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref GARD:4166 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref MESH:C535849 semapv:UnspecifiedMatching +DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref GARD:4166 semapv:UnspecifiedMatching DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly oboInOwl:hasDbXref OMIM:217085 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ORDO:722 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS_CUI:C1968804 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS_CUI:C0398621 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C580017 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref GARD:4380 semapv:UnspecifiedMatching -DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C566897 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ICD10CM:E88.02 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C566897 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref MESH:C580017 semapv:UnspecifiedMatching DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref OMIM:217090 semapv:UnspecifiedMatching -DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref MESH:C566069 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref ORDO:722 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS_CUI:C0398621 semapv:UnspecifiedMatching +DOID:0111592 plasminogen deficiency type I oboInOwl:hasDbXref UMLS_CUI:C1968804 semapv:UnspecifiedMatching DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref OMIM:187370 semapv:UnspecifiedMatching +DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref MESH:C566069 semapv:UnspecifiedMatching DOID:0111593 distal arthrogryposis type 10 oboInOwl:hasDbXref ORDO:251515 semapv:UnspecifiedMatching -DOID:0111594 distal arthrogryposis type 5D oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching DOID:0111594 distal arthrogryposis type 5D oboInOwl:hasDbXref ORDO:329457 semapv:UnspecifiedMatching -DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref ORDO:115 semapv:UnspecifiedMatching -DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref OMIM:121050 semapv:UnspecifiedMatching -DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS_CUI:C0220668 semapv:UnspecifiedMatching +DOID:0111594 distal arthrogryposis type 5D oboInOwl:hasDbXref OMIM:615065 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref MESH:C536211 semapv:UnspecifiedMatching DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref NCI:C129865 semapv:UnspecifiedMatching -DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref ORDO:1146 semapv:UnspecifiedMatching -DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:126050 semapv:UnspecifiedMatching +DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref OMIM:121050 semapv:UnspecifiedMatching +DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref ORDO:115 semapv:UnspecifiedMatching +DOID:0111595 congenital contractural arachnodactyly oboInOwl:hasDbXref UMLS_CUI:C0220668 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref GARD:787 semapv:UnspecifiedMatching DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref MESH:C565097 semapv:UnspecifiedMatching +DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref OMIM:126050 semapv:UnspecifiedMatching +DOID:0111596 distal arthrogryposis type 1 oboInOwl:hasDbXref ORDO:1146 semapv:UnspecifiedMatching DOID:0111597 distal arthrogryposis type 1A oboInOwl:hasDbXref MESH:C535378 semapv:UnspecifiedMatching DOID:0111597 distal arthrogryposis type 1A oboInOwl:hasDbXref OMIM:108120 semapv:UnspecifiedMatching DOID:0111598 distal arthrogryposis type 1B oboInOwl:hasDbXref OMIM:614335 semapv:UnspecifiedMatching -DOID:0111599 distal arthrogryposis type 2B oboInOwl:hasDbXref MESH:C538400 semapv:UnspecifiedMatching DOID:0111599 distal arthrogryposis type 2B oboInOwl:hasDbXref ORDO:1147 semapv:UnspecifiedMatching +DOID:0111599 distal arthrogryposis type 2B oboInOwl:hasDbXref MESH:C538400 semapv:UnspecifiedMatching DOID:0111600 distal arthrogryposis type 2B1 oboInOwl:hasDbXref OMIM:601680 semapv:UnspecifiedMatching DOID:0111601 distal arthrogryposis type 2B2 oboInOwl:hasDbXref OMIM:618435 semapv:UnspecifiedMatching DOID:0111602 distal arthrogryposis type 2B3 oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching -DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref ORDO:3377 semapv:UnspecifiedMatching -DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref OMIM:158300 semapv:UnspecifiedMatching -DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref OMIM:121070 semapv:UnspecifiedMatching -DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref MESH:C535857 semapv:UnspecifiedMatching DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref GARD:2621 semapv:UnspecifiedMatching +DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref MESH:C535857 semapv:UnspecifiedMatching +DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref OMIM:121070 semapv:UnspecifiedMatching +DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref OMIM:158300 semapv:UnspecifiedMatching +DOID:0111603 distal arthrogryposis type 7 oboInOwl:hasDbXref ORDO:3377 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref MESH:C535483 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref NCI:C98931 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching DOID:0111604 Freeman-Sheldon syndrome oboInOwl:hasDbXref ORDO:2053 semapv:UnspecifiedMatching DOID:0111605 distal arthrogryposis type 2A oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching -DOID:0111606 autosomal recessive Whistling face syndrome oboInOwl:hasDbXref GARD:100024 semapv:UnspecifiedMatching DOID:0111606 autosomal recessive Whistling face syndrome oboInOwl:hasDbXref OMIM:277720 semapv:UnspecifiedMatching -DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref OMIM:114300 semapv:UnspecifiedMatching +DOID:0111606 autosomal recessive Whistling face syndrome oboInOwl:hasDbXref GARD:100024 semapv:UnspecifiedMatching DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref ORDO:376 semapv:UnspecifiedMatching -DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref GARD:2553 semapv:UnspecifiedMatching +DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref OMIM:114300 semapv:UnspecifiedMatching DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref MESH:C537288 semapv:UnspecifiedMatching +DOID:0111607 distal arthrogryposis type 3 oboInOwl:hasDbXref GARD:2553 semapv:UnspecifiedMatching +DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref GARD:4047 semapv:UnspecifiedMatching DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref MESH:C537737 semapv:UnspecifiedMatching DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref OMIM:108145 semapv:UnspecifiedMatching -DOID:0111608 distal arthrogryposis type 5 oboInOwl:hasDbXref GARD:4047 semapv:UnspecifiedMatching -DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref ORDO:1144 semapv:UnspecifiedMatching -DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref OMIM:108200 semapv:UnspecifiedMatching -DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref MESH:C535386 semapv:UnspecifiedMatching DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref GARD:784 semapv:UnspecifiedMatching +DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref MESH:C535386 semapv:UnspecifiedMatching +DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref OMIM:108200 semapv:UnspecifiedMatching +DOID:0111609 distal arthrogryposis type 6 oboInOwl:hasDbXref ORDO:1144 semapv:UnspecifiedMatching DOID:0111610 distal arthrogryposis type 4 oboInOwl:hasDbXref MESH:C563791 semapv:UnspecifiedMatching DOID:0111610 distal arthrogryposis type 4 oboInOwl:hasDbXref OMIM:609128 semapv:UnspecifiedMatching DOID:0111610 distal arthrogryposis type 4 oboInOwl:hasDbXref ORDO:65720 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref GARD:4952 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537310 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref OMIM:607317 semapv:UnspecifiedMatching -DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref ORDO:95434 semapv:UnspecifiedMatching DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref UMLS_CUI:C1846492 semapv:UnspecifiedMatching +DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref ORDO:95434 semapv:UnspecifiedMatching +DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref OMIM:607317 semapv:UnspecifiedMatching +DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537310 semapv:UnspecifiedMatching +DOID:0111611 autosomal recessive spinocerebellar ataxia 4 oboInOwl:hasDbXref GARD:4952 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref GARD:9971 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref MESH:C537309 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref OMIM:271250 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref ORDO:95433 semapv:UnspecifiedMatching DOID:0111612 autosomal recessive spinocerebellar ataxia 3 oboInOwl:hasDbXref UMLS_CUI:C1849094 semapv:UnspecifiedMatching -DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref ORDO:404493 semapv:UnspecifiedMatching DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref OMIM:616949 semapv:UnspecifiedMatching +DOID:0111613 autosomal recessive spinocerebellar ataxia 23 oboInOwl:hasDbXref ORDO:404493 semapv:UnspecifiedMatching DOID:0111614 autosomal recessive spinocerebellar ataxia 22 oboInOwl:hasDbXref OMIM:616948 semapv:UnspecifiedMatching DOID:0111615 autosomal recessive spinocerebellar ataxia 24 oboInOwl:hasDbXref OMIM:617133 semapv:UnspecifiedMatching DOID:0111616 autosomal recessive spinocerebellar ataxia 27 oboInOwl:hasDbXref OMIM:618369 semapv:UnspecifiedMatching -DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref GARD:4954 semapv:UnspecifiedMatching -DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref MESH:C537312 semapv:UnspecifiedMatching -DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref ORDO:284332 semapv:UnspecifiedMatching +DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref OMIM:608029 semapv:UnspecifiedMatching DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref UMLS_CUI:C1842676 semapv:UnspecifiedMatching +DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref GARD:4954 semapv:UnspecifiedMatching +DOID:0111617 autosomal recessive spinocerebellar ataxia 6 oboInOwl:hasDbXref MESH:C537312 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref GARD:12234 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref MESH:C565188 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref OMIM:610743 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref ORDO:88644 semapv:UnspecifiedMatching DOID:0111618 autosomal recessive spinocerebellar ataxia 8 oboInOwl:hasDbXref UMLS_CUI:C1853116 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS_CUI:C5574940 semapv:UnspecifiedMatching -DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 semapv:UnspecifiedMatching DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ORDO:356978 semapv:UnspecifiedMatching +DOID:0111619 combined D-2- and L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:615182 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref GARD:1529 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref MESH:C535473 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref OMIM:217400 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref ORDO:1490 semapv:UnspecifiedMatching DOID:0111620 corneal dystrophy-perceptive deafness syndrome oboInOwl:hasDbXref UMLS_CUI:C1857572 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref GARD:5688 semapv:UnspecifiedMatching +DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref UMLS_CUI:C1857512 semapv:UnspecifiedMatching +DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref ORDO:1777 semapv:UnspecifiedMatching +DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref OMIM:218340 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref MESH:C536959 semapv:UnspecifiedMatching +DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref GARD:5688 semapv:UnspecifiedMatching DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref NCI:C148371 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref OMIM:218340 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref ORDO:1777 semapv:UnspecifiedMatching -DOID:0111621 Temtamy syndrome oboInOwl:hasDbXref UMLS_CUI:C1857512 semapv:UnspecifiedMatching -DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref UMLS_CUI:C2062388 semapv:UnspecifiedMatching -DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref ORDO:189427 semapv:UnspecifiedMatching DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref GARD:10824 semapv:UnspecifiedMatching +DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref ORDO:189427 semapv:UnspecifiedMatching +DOID:0111622 ACTH-independent macronodular adrenal hyperplasia oboInOwl:hasDbXref UMLS_CUI:C2062388 semapv:UnspecifiedMatching DOID:0111623 ACTH-independent macronodular adrenal hyperplasia 1 oboInOwl:hasDbXref OMIM:219080 semapv:UnspecifiedMatching DOID:0111624 ACTH-independent macronodular adrenal hyperplasia 2 oboInOwl:hasDbXref OMIM:615954 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref MESH:C565657 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref OMIM:219730 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref ORDO:443988 semapv:UnspecifiedMatching DOID:0111625 ventriculomegaly - cystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C1857423 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref GARD:234 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ICD10CM:E72.59 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching -DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ORDO:941 semapv:UnspecifiedMatching DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref UMLS_CUI:C1291386 semapv:UnspecifiedMatching -DOID:0111627 DOORS syndrome oboInOwl:hasDbXref UMLS_CUI:C0795927 semapv:UnspecifiedMatching +DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref OMIM:220120 semapv:UnspecifiedMatching +DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref ICD10CM:E72.59 semapv:UnspecifiedMatching +DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref MESH:C535767 semapv:UnspecifiedMatching +DOID:0111626 D-glyceric aciduria oboInOwl:hasDbXref GARD:234 semapv:UnspecifiedMatching +DOID:0111627 DOORS syndrome oboInOwl:hasDbXref GARD:1685 semapv:UnspecifiedMatching +DOID:0111627 DOORS syndrome oboInOwl:hasDbXref MESH:C538204 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching DOID:0111627 DOORS syndrome oboInOwl:hasDbXref ORDO:79500 semapv:UnspecifiedMatching -DOID:0111627 DOORS syndrome oboInOwl:hasDbXref MESH:C538204 semapv:UnspecifiedMatching -DOID:0111627 DOORS syndrome oboInOwl:hasDbXref GARD:1685 semapv:UnspecifiedMatching +DOID:0111627 DOORS syndrome oboInOwl:hasDbXref UMLS_CUI:C0795927 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref GARD:12844 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:221200 semapv:UnspecifiedMatching DOID:0111628 high myopia-sensorineural deafness syndrome oboInOwl:hasDbXref ORDO:363396 semapv:UnspecifiedMatching -DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342803 semapv:UnspecifiedMatching -DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref OMIM:222748 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref ORDO:38874 semapv:UnspecifiedMatching +DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref OMIM:222748 semapv:UnspecifiedMatching +DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0342803 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref GARD:12347 semapv:UnspecifiedMatching DOID:0111629 dihydropyrimidinase deficiency oboInOwl:hasDbXref MESH:C562815 semapv:UnspecifiedMatching DOID:0111630 familial erythrocytosis 8 oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching DOID:0111630 familial erythrocytosis 8 oboInOwl:hasDbXref ORDO:714 semapv:UnspecifiedMatching DOID:0111631 familial erythrocytosis 7 oboInOwl:hasDbXref OMIM:617981 semapv:UnspecifiedMatching DOID:0111632 familial erythrocytosis 6 oboInOwl:hasDbXref OMIM:617980 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS_CUI:C1283620 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ORDO:35122 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref NCI:C128190 semapv:UnspecifiedMatching +DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref GARD:7710 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ICD10CM:E74.31 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MEDDRA:10066387 semapv:UnspecifiedMatching -DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref GARD:7710 semapv:UnspecifiedMatching DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref MESH:C538139 semapv:UnspecifiedMatching +DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref NCI:C128190 semapv:UnspecifiedMatching +DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref OMIM:222900 semapv:UnspecifiedMatching +DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref ORDO:35122 semapv:UnspecifiedMatching +DOID:0111633 congenital sucrase-isomaltase deficiency oboInOwl:hasDbXref UMLS_CUI:C1283620 semapv:UnspecifiedMatching DOID:0111634 autosomal recessive nonsyndromic deafness 99 oboInOwl:hasDbXref OMIM:618481 semapv:UnspecifiedMatching DOID:0111635 autosomal recessive nonsyndromic deafness 57 oboInOwl:hasDbXref OMIM:618003 semapv:UnspecifiedMatching DOID:0111636 autosomal recessive nonsyndromic deafness 113 oboInOwl:hasDbXref OMIM:618410 semapv:UnspecifiedMatching @@ -10638,18 +10664,18 @@ DOID:0111643 autosomal recessive nonsyndromic deafness 115 oboInOwl:hasDbXref OM DOID:0111644 autosomal recessive nonsyndromic deafness 110 oboInOwl:hasDbXref OMIM:618094 semapv:UnspecifiedMatching DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref OMIM:608105 semapv:UnspecifiedMatching DOID:0111645 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome oboInOwl:hasDbXref ORDO:163727 semapv:UnspecifiedMatching -DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ICD10CM:E73.0 semapv:UnspecifiedMatching -DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref MESH:C562600 semapv:UnspecifiedMatching +DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268179 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref OMIM:223000 semapv:UnspecifiedMatching DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ORDO:53690 semapv:UnspecifiedMatching -DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268179 semapv:UnspecifiedMatching +DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref ICD10CM:E73.0 semapv:UnspecifiedMatching +DOID:0111646 congenital lactase deficiency oboInOwl:hasDbXref MESH:C562600 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref MESH:C565607 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref OMIM:224750 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref ORDO:50944 semapv:UnspecifiedMatching DOID:0111647 Schopf-Schulz-Passarge syndrome oboInOwl:hasDbXref UMLS_CUI:C1857069 semapv:UnspecifiedMatching +DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref MESH:C563268 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref OMIM:225200 semapv:UnspecifiedMatching DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref UMLS_CUI:C1644196 semapv:UnspecifiedMatching -DOID:0111648 ectopia lentis with ectopia of pupil oboInOwl:hasDbXref MESH:C563268 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref GARD:2078 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref OMIM:225280 semapv:UnspecifiedMatching DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome oboInOwl:hasDbXref ORDO:1897 semapv:UnspecifiedMatching @@ -10658,119 +10684,119 @@ DOID:0111651 ectodermal dysplasia 15 oboInOwl:hasDbXref OMIM:618535 semapv:Unspe DOID:0111652 ectodermal dysplasia 12 oboInOwl:hasDbXref OMIM:617337 semapv:UnspecifiedMatching DOID:0111653 ectodermal dysplasia 11A oboInOwl:hasDbXref OMIM:614940 semapv:UnspecifiedMatching DOID:0111654 ectodermal dysplasia 11B oboInOwl:hasDbXref OMIM:614941 semapv:UnspecifiedMatching -DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref MESH:C566592 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref ORDO:69084 semapv:UnspecifiedMatching +DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref MESH:C566592 semapv:UnspecifiedMatching DOID:0111655 pure hair and nail ectodermal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1865951 semapv:UnspecifiedMatching DOID:0111656 ectodermal dysplasia 9 oboInOwl:hasDbXref OMIM:614931 semapv:UnspecifiedMatching DOID:0111657 ectodermal dysplasia 5 oboInOwl:hasDbXref OMIM:614927 semapv:UnspecifiedMatching DOID:0111658 ectodermal dysplasia 4 oboInOwl:hasDbXref OMIM:602032 semapv:UnspecifiedMatching DOID:0111659 ectodermal dysplasia 6 oboInOwl:hasDbXref OMIM:614928 semapv:UnspecifiedMatching DOID:0111660 ectodermal dysplasia 7 oboInOwl:hasDbXref OMIM:614929 semapv:UnspecifiedMatching -DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref UMLS_CUI:C0406715 semapv:UnspecifiedMatching -DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref ORDO:99672 semapv:UnspecifiedMatching DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching +DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref ORDO:99672 semapv:UnspecifiedMatching +DOID:0111661 ectodermal dysplasia 8 oboInOwl:hasDbXref UMLS_CUI:C0406715 semapv:UnspecifiedMatching DOID:0111662 ectodermal dysplasia 14 oboInOwl:hasDbXref OMIM:618180 semapv:UnspecifiedMatching DOID:0111663 ectodermal dysplasia 10A oboInOwl:hasDbXref OMIM:129490 semapv:UnspecifiedMatching -DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching -DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching +DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C0162359 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref OMIM:305100 semapv:UnspecifiedMatching DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref ORDO:181 semapv:UnspecifiedMatching -DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref UMLS_CUI:C0162359 semapv:UnspecifiedMatching +DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching +DOID:0111664 ectodermal dysplasia 1 oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching DOID:0111665 ectodermal dysplasia 10B oboInOwl:hasDbXref OMIM:224900 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref MEDDRA:10071718 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref MESH:C565593 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref OMIM:225790 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref ORDO:221126 semapv:UnspecifiedMatching DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome oboInOwl:hasDbXref UMLS_CUI:C1856972 semapv:UnspecifiedMatching -DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268416 semapv:UnspecifiedMatching -DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref ORDO:168601 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref MESH:C562649 semapv:UnspecifiedMatching DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref OMIM:226200 semapv:UnspecifiedMatching -DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref GARD:3128 semapv:UnspecifiedMatching -DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref MESH:C537213 semapv:UnspecifiedMatching -DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref OMIM:226750 semapv:UnspecifiedMatching +DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref ORDO:168601 semapv:UnspecifiedMatching +DOID:0111667 enterokinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268416 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref ORDO:1946 semapv:UnspecifiedMatching +DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref OMIM:226750 semapv:UnspecifiedMatching DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref UMLS_CUI:C0406740 semapv:UnspecifiedMatching +DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref GARD:3128 semapv:UnspecifiedMatching +DOID:0111668 Kohlschutter-Tonz syndrome oboInOwl:hasDbXref MESH:C537213 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref NCI:C98297 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref ORDO:498474 semapv:UnspecifiedMatching DOID:0111669 hyaline fibromatosis syndrome oboInOwl:hasDbXref UMLS_CUI:C2745948 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS_CUI:C0268164 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref ORDO:93598 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching -DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref GARD:2835 semapv:UnspecifiedMatching +DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref MESH:C536414 semapv:UnspecifiedMatching DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref NCI:C123212 semapv:UnspecifiedMatching +DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref OMIM:259900 semapv:UnspecifiedMatching +DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref ORDO:93598 semapv:UnspecifiedMatching +DOID:0111670 primary hyperoxaluria type 1 oboInOwl:hasDbXref UMLS_CUI:C0268164 semapv:UnspecifiedMatching +DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS_CUI:C0268165 semapv:UnspecifiedMatching +DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref ORDO:93599 semapv:UnspecifiedMatching +DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching +DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref NCI:C123213 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref GARD:2836 semapv:UnspecifiedMatching DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref MESH:C536415 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref NCI:C123213 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref OMIM:260000 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref ORDO:93599 semapv:UnspecifiedMatching -DOID:0111671 primary hyperoxaluria type 2 oboInOwl:hasDbXref UMLS_CUI:C0268165 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref GARD:10738 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref NCI:C123214 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref ORDO:93600 semapv:UnspecifiedMatching DOID:0111672 primary hyperoxaluria type 3 oboInOwl:hasDbXref UMLS_CUI:C3150878 semapv:UnspecifiedMatching +DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref OMIM:618150 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref ORDO:85172 semapv:UnspecifiedMatching DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref UMLS_CUI:C1300285 semapv:UnspecifiedMatching -DOID:0111673 Saul-Wilson syndrome oboInOwl:hasDbXref OMIM:618150 semapv:UnspecifiedMatching DOID:0111674 intellectual developmental disorder with short stature and behavioral abnormalities oboInOwl:hasDbXref OMIM:618687 semapv:UnspecifiedMatching DOID:0111675 neurooculocardiogenitourinary syndrome oboInOwl:hasDbXref OMIM:618652 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref GARD:2684 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref MESH:C537060 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref NCI:C98946 semapv:UnspecifiedMatching -DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref ORDO:483 semapv:UnspecifiedMatching +DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref OMIM:228960 semapv:UnspecifiedMatching DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref UMLS_CUI:C0272340 semapv:UnspecifiedMatching +DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref MESH:C537060 semapv:UnspecifiedMatching +DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref NCI:C98946 semapv:UnspecifiedMatching +DOID:0111676 high molecular weight kininogen deficiency oboInOwl:hasDbXref GARD:2684 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref MESH:C565564 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref OMIM:228980 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref ORDO:363989 semapv:UnspecifiedMatching DOID:0111677 familial benign fleck retina oboInOwl:hasDbXref UMLS_CUI:C1856718 semapv:UnspecifiedMatching +DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref GARD:12983 semapv:UnspecifiedMatching +DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref MESH:C562799 semapv:UnspecifiedMatching +DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref NCI:C156424 semapv:UnspecifiedMatching +DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref ORDO:90045 semapv:UnspecifiedMatching DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref UMLS_CUI:C0342705 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref OMIM:229050 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref NCI:C156424 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref MESH:C562799 semapv:UnspecifiedMatching -DOID:0111678 hereditary folate malabsorption oboInOwl:hasDbXref GARD:12983 semapv:UnspecifiedMatching -DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref GARD:9279 semapv:UnspecifiedMatching -DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching -DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref ORDO:51208 semapv:UnspecifiedMatching DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268609 semapv:UnspecifiedMatching +DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref OMIM:229100 semapv:UnspecifiedMatching +DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching +DOID:0111679 glutamate formiminotransferase deficiency oboInOwl:hasDbXref GARD:9279 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref ICD10CM:E74.11 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref MEDDRA:10015487 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref MESH:C538068 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref OMIM:229800 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref ORDO:2056 semapv:UnspecifiedMatching DOID:0111680 essential fructosuria oboInOwl:hasDbXref UMLS_CUI:C0268160 semapv:UnspecifiedMatching -DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS_CUI:C1856603 semapv:UnspecifiedMatching -DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ORDO:33574 semapv:UnspecifiedMatching -DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref MESH:C565557 semapv:UnspecifiedMatching +DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref OMIM:230450 semapv:UnspecifiedMatching +DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref ORDO:33574 semapv:UnspecifiedMatching +DOID:0111681 glutamate-cysteine ligase deficiency oboInOwl:hasDbXref UMLS_CUI:C1856603 semapv:UnspecifiedMatching DOID:0111682 diffuse cystic renal dysplasia oboInOwl:hasDbXref GARD:4658 semapv:UnspecifiedMatching DOID:0111682 diffuse cystic renal dysplasia oboInOwl:hasDbXref OMIM:601331 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref GARD:372 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching -DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ORDO:638 semapv:UnspecifiedMatching DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref UMLS_CUI:C2931482 semapv:UnspecifiedMatching +DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref OMIM:601321 semapv:UnspecifiedMatching +DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref GARD:372 semapv:UnspecifiedMatching +DOID:0111683 neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref MESH:C537393 semapv:UnspecifiedMatching DOID:0111684 hereditary mixed polyposis syndrome oboInOwl:hasDbXref ORDO:157794 semapv:UnspecifiedMatching DOID:0111685 hereditary mixed polyposis syndrome 1 oboInOwl:hasDbXref OMIM:601228 semapv:UnspecifiedMatching DOID:0111686 hereditary mixed polyposis syndrome 2 oboInOwl:hasDbXref OMIM:610069 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS_CUI:C1832588 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref ORDO:52022 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching -DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref GARD:9762 semapv:UnspecifiedMatching +DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref MESH:C538356 semapv:UnspecifiedMatching DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref NCI:C75456 semapv:UnspecifiedMatching +DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref OMIM:601224 semapv:UnspecifiedMatching +DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref ORDO:52022 semapv:UnspecifiedMatching +DOID:0111687 Potocki-Shaffer syndrome oboInOwl:hasDbXref UMLS_CUI:C1832588 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref MESH:C563390 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:UnspecifiedMatching DOID:0111688 Ayme-Gripp syndrome oboInOwl:hasDbXref UMLS_CUI:C1832812 semapv:UnspecifiedMatching -DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref OMIMPS:601068 semapv:UnspecifiedMatching -DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref ORDO:86814 semapv:UnspecifiedMatching DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C4273988 semapv:UnspecifiedMatching +DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref ORDO:86814 semapv:UnspecifiedMatching +DOID:0111689 familial adult myoclonic epilepsy oboInOwl:hasDbXref OMIMPS:601068 semapv:UnspecifiedMatching DOID:0111690 familial adult myoclonic epilepsy 1 oboInOwl:hasDbXref OMIM:601068 semapv:UnspecifiedMatching DOID:0111691 familial adult myoclonic epilepsy 5 oboInOwl:hasDbXref OMIM:615400 semapv:UnspecifiedMatching DOID:0111692 familial adult myoclonic epilepsy 2 oboInOwl:hasDbXref OMIM:607876 semapv:UnspecifiedMatching @@ -10781,87 +10807,87 @@ DOID:0111696 familial adult myoclonic epilepsy 6 oboInOwl:hasDbXref OMIM:618074 DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref MESH:C563414 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref OMIM:600987 semapv:UnspecifiedMatching DOID:0111697 cleft palate, cardiac defects, and intellectual disabillity oboInOwl:hasDbXref UMLS_CUI:C1832950 semapv:UnspecifiedMatching +DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref UMLS_CUI:C1833053 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref MESH:C563423 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref OMIM:600955 semapv:UnspecifiedMatching DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref ORDO:71528 semapv:UnspecifiedMatching -DOID:0111698 proprotein convertase 1/3 deficiency oboInOwl:hasDbXref UMLS_CUI:C1833053 semapv:UnspecifiedMatching -DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref GARD:3382 semapv:UnspecifiedMatching -DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref MESH:C535909 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref OMIM:600920 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref ORDO:2460 semapv:UnspecifiedMatching +DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref GARD:3382 semapv:UnspecifiedMatching +DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref MESH:C535909 semapv:UnspecifiedMatching DOID:0111699 Van den Ende-Gupta syndrome oboInOwl:hasDbXref UMLS_CUI:C1833136 semapv:UnspecifiedMatching -DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref GARD:13294 semapv:UnspecifiedMatching DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref OMIM:600919 semapv:UnspecifiedMatching +DOID:0111700 ankyrin-B-related cardiac arrhythmia oboInOwl:hasDbXref GARD:13294 semapv:UnspecifiedMatching DOID:0111701 long QT syndrome 4 oboInOwl:hasDbXref GARD:10432 semapv:UnspecifiedMatching DOID:0111701 long QT syndrome 4 oboInOwl:hasDbXref MESH:C563428 semapv:UnspecifiedMatching -DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref ORDO:168 semapv:UnspecifiedMatching -DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref OMIM:600628 semapv:UnspecifiedMatching -DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref UMLS_CUI:C0406468 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref GARD:3287 semapv:UnspecifiedMatching DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref MESH:D058247 semapv:UnspecifiedMatching +DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref OMIM:600628 semapv:UnspecifiedMatching +DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref ORDO:168 semapv:UnspecifiedMatching +DOID:0111702 loose anagen hair syndrome oboInOwl:hasDbXref UMLS_CUI:C0406468 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref GARD:2871 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref MESH:C563467 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref ORDO:2224 semapv:UnspecifiedMatching DOID:0111703 familial hypertryptophanemia oboInOwl:hasDbXref UMLS_CUI:C2931837 semapv:UnspecifiedMatching -DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching +DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C2931817 semapv:UnspecifiedMatching +DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref ORDO:1001 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref NCI:C129021 semapv:UnspecifiedMatching +DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref MESH:C538317 semapv:UnspecifiedMatching DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv:UnspecifiedMatching -DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref ORDO:1001 semapv:UnspecifiedMatching -DOID:0111704 chromosome 2q37 deletion syndrome oboInOwl:hasDbXref UMLS_CUI:C2931817 semapv:UnspecifiedMatching -DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref UMLS_CUI:C1838329 semapv:UnspecifiedMatching -DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching -DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref ORDO:3339 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref GARD:10366 semapv:UnspecifiedMatching DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref MESH:C563969 semapv:UnspecifiedMatching +DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching +DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref ORDO:3339 semapv:UnspecifiedMatching +DOID:0111705 oculoectodermal syndrome oboInOwl:hasDbXref UMLS_CUI:C1838329 semapv:UnspecifiedMatching DOID:0111706 oblique facial clefting 1 oboInOwl:hasDbXref OMIM:600251 semapv:UnspecifiedMatching DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref GARD:1862 semapv:UnspecifiedMatching DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600231 semapv:UnspecifiedMatching +DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS_CUI:C2931923 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:C538682 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:448264 semapv:UnspecifiedMatching -DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS_CUI:C2931923 semapv:UnspecifiedMatching DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 oboInOwl:hasDbXref OMIM:613000 semapv:UnspecifiedMatching -DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:402003 semapv:UnspecifiedMatching +DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 oboInOwl:hasDbXref OMIM:616400 semapv:UnspecifiedMatching -DOID:0111712 Kagami-Ogata syndrome oboInOwl:hasDbXref ORDO:254519 semapv:UnspecifiedMatching DOID:0111712 Kagami-Ogata syndrome oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching -DOID:0111713 Temple syndrome oboInOwl:hasDbXref UMLS_CUI:C4015558 semapv:UnspecifiedMatching -DOID:0111713 Temple syndrome oboInOwl:hasDbXref ORDO:254516 semapv:UnspecifiedMatching +DOID:0111712 Kagami-Ogata syndrome oboInOwl:hasDbXref ORDO:254519 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref NCI:C120409 semapv:UnspecifiedMatching DOID:0111713 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching +DOID:0111713 Temple syndrome oboInOwl:hasDbXref ORDO:254516 semapv:UnspecifiedMatching +DOID:0111713 Temple syndrome oboInOwl:hasDbXref UMLS_CUI:C4015558 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref OMIM:617352 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref ORDO:96186 semapv:UnspecifiedMatching DOID:0111714 Mulchandani-Bhoj-Conlin syndrome oboInOwl:hasDbXref UMLS_CUI:C4275029 semapv:UnspecifiedMatching -DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref GARD:13316 semapv:UnspecifiedMatching -DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref ORDO:398069 semapv:UnspecifiedMatching DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref UMLS_CUI:C3809877 semapv:UnspecifiedMatching +DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref GARD:13316 semapv:UnspecifiedMatching +DOID:0111715 Schaaf-Yang syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching +DOID:0111716 cryptophthalmia oboInOwl:hasDbXref UMLS_CUI:C0311249 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ORDO:98562 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ICD10CM:Q11.2 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref ICD9CM:743.06 semapv:UnspecifiedMatching DOID:0111716 cryptophthalmia oboInOwl:hasDbXref NCI:C124520 semapv:UnspecifiedMatching -DOID:0111716 cryptophthalmia oboInOwl:hasDbXref UMLS_CUI:C0311249 semapv:UnspecifiedMatching -DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref UMLS_CUI:C1852453 semapv:UnspecifiedMatching -DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref ORDO:91396 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref MESH:C565138 semapv:UnspecifiedMatching DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching +DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref ORDO:91396 semapv:UnspecifiedMatching +DOID:0111717 isolated cryptophthalmia oboInOwl:hasDbXref UMLS_CUI:C1852453 semapv:UnspecifiedMatching DOID:0111718 partial cryptophthalmia oboInOwl:hasDbXref ORDO:98950 semapv:UnspecifiedMatching DOID:0111719 complete cryptophthalmia oboInOwl:hasDbXref ORDO:98949 semapv:UnspecifiedMatching DOID:0111720 congenital symblepharon oboInOwl:hasDbXref ORDO:98948 semapv:UnspecifiedMatching -DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C562880 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref ORDO:100032 semapv:UnspecifiedMatching +DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref MESH:C562880 semapv:UnspecifiedMatching DOID:0111721 amelogenesis imperfecta type 3 oboInOwl:hasDbXref UMLS_CUI:C0399376 semapv:UnspecifiedMatching DOID:0111722 amelogenesis imperfecta type 3C oboInOwl:hasDbXref OMIM:618386 semapv:UnspecifiedMatching -DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref OMIM:147791 semapv:UnspecifiedMatching DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref ORDO:2308 semapv:UnspecifiedMatching -DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref GARD:307 semapv:UnspecifiedMatching +DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref OMIM:147791 semapv:UnspecifiedMatching DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref MESH:D054868 semapv:UnspecifiedMatching -DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref OMIMPS:231050 semapv:UnspecifiedMatching -DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref UMLS_CUI:C3489726 semapv:UnspecifiedMatching +DOID:0111723 Jacobsen Syndrome oboInOwl:hasDbXref GARD:307 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref GARD:2449 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref MEDDRA:10063361 semapv:UnspecifiedMatching +DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref OMIMPS:231050 semapv:UnspecifiedMatching DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref ORDO:2623 semapv:UnspecifiedMatching +DOID:0111724 geleophysic dysplasia oboInOwl:hasDbXref UMLS_CUI:C3489726 semapv:UnspecifiedMatching DOID:0111725 geleophysic dysplasia 1 oboInOwl:hasDbXref OMIM:231050 semapv:UnspecifiedMatching DOID:0111726 geleophysic dysplasia 2 oboInOwl:hasDbXref OMIM:614185 semapv:UnspecifiedMatching DOID:0111727 geleophysic dysplasia 3 oboInOwl:hasDbXref OMIM:617809 semapv:UnspecifiedMatching @@ -10874,10 +10900,10 @@ DOID:0111730 familial episodic pain syndrome 2 oboInOwl:hasDbXref OMIM:615551 se DOID:0111731 familial episodic pain syndrome 3 oboInOwl:hasDbXref NCI:C125390 semapv:UnspecifiedMatching DOID:0111731 familial episodic pain syndrome 3 oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching DOID:0111731 familial episodic pain syndrome 3 oboInOwl:hasDbXref ORDO:391392 semapv:UnspecifiedMatching -DOID:0111732 Eiken syndrome oboInOwl:hasDbXref UMLS_CUI:C1838779 semapv:UnspecifiedMatching -DOID:0111732 Eiken syndrome oboInOwl:hasDbXref ORDO:79106 semapv:UnspecifiedMatching -DOID:0111732 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching DOID:0111732 Eiken syndrome oboInOwl:hasDbXref MESH:C564010 semapv:UnspecifiedMatching +DOID:0111732 Eiken syndrome oboInOwl:hasDbXref OMIM:600002 semapv:UnspecifiedMatching +DOID:0111732 Eiken syndrome oboInOwl:hasDbXref ORDO:79106 semapv:UnspecifiedMatching +DOID:0111732 Eiken syndrome oboInOwl:hasDbXref UMLS_CUI:C1838779 semapv:UnspecifiedMatching DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome oboInOwl:hasDbXref OMIM:600001 semapv:UnspecifiedMatching DOID:0111734 aminoglycoside-induced deafness oboInOwl:hasDbXref OMIM:580000 semapv:UnspecifiedMatching DOID:0111735 X-linked deafness 4 oboInOwl:hasDbXref OMIM:300066 semapv:UnspecifiedMatching @@ -10890,8 +10916,8 @@ DOID:0111739 X-linked deafness 1 oboInOwl:hasDbXref OMIM:304500 semapv:Unspecifi DOID:0111740 X-linked deafness 6 oboInOwl:hasDbXref OMIM:300914 semapv:UnspecifiedMatching DOID:0111741 X-linked deafness 5 oboInOwl:hasDbXref OMIM:300614 semapv:UnspecifiedMatching DOID:0111741 X-linked deafness 5 oboInOwl:hasDbXref ORDO:139583 semapv:UnspecifiedMatching -DOID:0111742 cerebellar ataxia type 42 oboInOwl:hasDbXref ORDO:458803 semapv:UnspecifiedMatching DOID:0111742 cerebellar ataxia type 42 oboInOwl:hasDbXref OMIM:616795 semapv:UnspecifiedMatching +DOID:0111742 cerebellar ataxia type 42 oboInOwl:hasDbXref ORDO:458803 semapv:UnspecifiedMatching DOID:0111743 cerebellar ataxia type 47 oboInOwl:hasDbXref OMIM:617931 semapv:UnspecifiedMatching DOID:0111744 cerebellar ataxia type 41 oboInOwl:hasDbXref OMIM:616410 semapv:UnspecifiedMatching DOID:0111744 cerebellar ataxia type 41 oboInOwl:hasDbXref ORDO:458798 semapv:UnspecifiedMatching @@ -10919,13 +10945,13 @@ DOID:0111761 46,XX sex reversal 1 oboInOwl:hasDbXref OMIM:400045 semapv:Unspecif DOID:0111762 46,XX sex reversal 3 oboInOwl:hasDbXref OMIM:300833 semapv:UnspecifiedMatching DOID:0111763 46,XX sex reversal 2 oboInOwl:hasDbXref OMIM:278850 semapv:UnspecifiedMatching DOID:0111764 46,XX sex reversal 4 oboInOwl:hasDbXref OMIM:617480 semapv:UnspecifiedMatching +DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref UMLS_CUI:C0268341 semapv:UnspecifiedMatching +DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref ORDO:555877 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref MESH:C536197 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref NCI:C141423 semapv:UnspecifiedMatching DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref OMIM:314400 semapv:UnspecifiedMatching -DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref ORDO:555877 semapv:UnspecifiedMatching -DOID:0111765 X-linked cardiac valvular dysplasia oboInOwl:hasDbXref UMLS_CUI:C0268341 semapv:UnspecifiedMatching -DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref GARD:8498 semapv:UnspecifiedMatching +DOID:0111766 X-linked VACTERL association oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref MESH:C564050 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref NCI:C134941 semapv:UnspecifiedMatching DOID:0111767 X-linked thrombocytopenia with beta-thalassemia oboInOwl:hasDbXref OMIM:314050 semapv:UnspecifiedMatching @@ -10939,8 +10965,8 @@ DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS_CUI:C0398762 DOID:0111768 X-linked properdin deficiency oboInOwl:hasDbXref UMLS_CUI:C1839454 semapv:UnspecifiedMatching DOID:0111769 46,XY sex reversal 6 oboInOwl:hasDbXref OMIM:613762 semapv:UnspecifiedMatching DOID:0111770 46,XY sex reversal 9 oboInOwl:hasDbXref OMIM:616067 semapv:UnspecifiedMatching -DOID:0111771 46,XY sex reversal 4 oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching DOID:0111771 46,XY sex reversal 4 oboInOwl:hasDbXref MESH:C567887 semapv:UnspecifiedMatching +DOID:0111771 46,XY sex reversal 4 oboInOwl:hasDbXref OMIM:154230 semapv:UnspecifiedMatching DOID:0111772 46,XY sex reversal 3 oboInOwl:hasDbXref OMIM:612965 semapv:UnspecifiedMatching DOID:0111773 46,XY sex reversal 8 oboInOwl:hasDbXref OMIM:614279 semapv:UnspecifiedMatching DOID:0111773 46,XY sex reversal 8 oboInOwl:hasDbXref ORDO:443087 semapv:UnspecifiedMatching @@ -10955,9 +10981,9 @@ DOID:0111779 X-linked panhypopituitarism oboInOwl:hasDbXref GARD:6737 semapv:Uns DOID:0111779 X-linked panhypopituitarism oboInOwl:hasDbXref OMIM:312000 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref UMLS_CUI:C1839463 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref ORDO:2886 semapv:UnspecifiedMatching -DOID:0111780 TARP syndrome oboInOwl:hasDbXref OMIM:311900 semapv:UnspecifiedMatching -DOID:0111780 TARP syndrome oboInOwl:hasDbXref MESH:C536942 semapv:UnspecifiedMatching DOID:0111780 TARP syndrome oboInOwl:hasDbXref GARD:10089 semapv:UnspecifiedMatching +DOID:0111780 TARP syndrome oboInOwl:hasDbXref MESH:C536942 semapv:UnspecifiedMatching +DOID:0111780 TARP syndrome oboInOwl:hasDbXref OMIM:311900 semapv:UnspecifiedMatching DOID:0111781 Waisman syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching DOID:0111782 otopalatodigital syndrome spectrum disorder oboInOwl:hasDbXref ORDO:364541 semapv:UnspecifiedMatching DOID:0111783 otopalatodigital syndrome type 1 oboInOwl:hasDbXref GARD:5121 semapv:UnspecifiedMatching @@ -10984,93 +11010,93 @@ DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref MESH:D010009 semapv:Uns DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref OMIM:309350 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref ORDO:1826 semapv:UnspecifiedMatching DOID:0111788 Melnick-Needles syndrome oboInOwl:hasDbXref UMLS_CUI:C0025237 semapv:UnspecifiedMatching -DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref ORDO:137834 semapv:UnspecifiedMatching -DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref UMLS_CUI:C1855305 semapv:UnspecifiedMatching +DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref ORDO:137834 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref GARD:5138 semapv:UnspecifiedMatching DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref MESH:C537274 semapv:UnspecifiedMatching +DOID:0111789 Frank-Ter Haar syndrome oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching DOID:0111790 congenital nystagmus 1 oboInOwl:hasDbXref GARD:2969 semapv:UnspecifiedMatching DOID:0111790 congenital nystagmus 1 oboInOwl:hasDbXref OMIM:310700 semapv:UnspecifiedMatching DOID:0111791 congenital nystagmus 7 oboInOwl:hasDbXref OMIM:614826 semapv:UnspecifiedMatching DOID:0111792 congenital nystagmus 2 oboInOwl:hasDbXref GARD:9599 semapv:UnspecifiedMatching DOID:0111792 congenital nystagmus 2 oboInOwl:hasDbXref OMIM:164100 semapv:UnspecifiedMatching -DOID:0111793 congenital nystagmus 3 oboInOwl:hasDbXref GARD:9600 semapv:UnspecifiedMatching DOID:0111793 congenital nystagmus 3 oboInOwl:hasDbXref OMIM:608345 semapv:UnspecifiedMatching +DOID:0111793 congenital nystagmus 3 oboInOwl:hasDbXref GARD:9600 semapv:UnspecifiedMatching DOID:0111795 congenital nystagmus 6 oboInOwl:hasDbXref OMIM:300814 semapv:UnspecifiedMatching DOID:0111796 congenital nystagmus 5 oboInOwl:hasDbXref OMIM:300589 semapv:UnspecifiedMatching DOID:0111797 autosomal recessive congenital nystagmus oboInOwl:hasDbXref GARD:9609 semapv:UnspecifiedMatching DOID:0111797 autosomal recessive congenital nystagmus oboInOwl:hasDbXref OMIM:257400 semapv:UnspecifiedMatching DOID:0111798 X-linked nephrolithiasis type I oboInOwl:hasDbXref OMIM:310468 semapv:UnspecifiedMatching +DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref UMLS_CUI:C1844948 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch MESH:C564457 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 skos:exactMatch MESH:C537464 semapv:UnspecifiedMatching -DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref UMLS_CUI:C1844948 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:85275 semapv:UnspecifiedMatching -DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:568 semapv:UnspecifiedMatching -DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref GARD:87 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref GARD:5066 semapv:UnspecifiedMatching DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref OMIM:309800 semapv:UnspecifiedMatching +DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref GARD:87 semapv:UnspecifiedMatching +DOID:0111799 syndromic microphthalmia 1 oboInOwl:hasDbXref ORDO:568 semapv:UnspecifiedMatching DOID:0111800 syndromic microphthalmia 12 oboInOwl:hasDbXref GARD:13235 semapv:UnspecifiedMatching DOID:0111800 syndromic microphthalmia 12 oboInOwl:hasDbXref OMIM:615524 semapv:UnspecifiedMatching +DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref ORDO:77298 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref GARD:1443 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref MESH:C565948 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref OMIM:206900 semapv:UnspecifiedMatching -DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref ORDO:77298 semapv:UnspecifiedMatching DOID:0111801 syndromic microphthalmia 3 oboInOwl:hasDbXref UMLS_CUI:C1859773 semapv:UnspecifiedMatching -DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref ORDO:424099 semapv:UnspecifiedMatching -DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref ORDO:3434 semapv:UnspecifiedMatching -DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref UMLS_CUI:C1832440 semapv:UnspecifiedMatching -DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref MESH:C537686 semapv:UnspecifiedMatching +DOID:0111802 syndromic microphthalmia 14 oboInOwl:hasDbXref OMIM:615877 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref GARD:3693 semapv:UnspecifiedMatching +DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref MESH:C537686 semapv:UnspecifiedMatching DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref OMIM:601349 semapv:UnspecifiedMatching +DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref ORDO:3434 semapv:UnspecifiedMatching +DOID:0111803 syndromic microphthalmia 8 oboInOwl:hasDbXref UMLS_CUI:C1832440 semapv:UnspecifiedMatching DOID:0111804 syndromic microphthalmia 11 oboInOwl:hasDbXref OMIM:614402 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref GARD:3645 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref MESH:C566440 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref OMIM:607932 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref ORDO:139471 semapv:UnspecifiedMatching DOID:0111805 syndromic microphthalmia 6 oboInOwl:hasDbXref UMLS_CUI:C1864689 semapv:UnspecifiedMatching -DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref GARD:3692 semapv:UnspecifiedMatching -DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref MESH:C566441 semapv:UnspecifiedMatching -DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref ORDO:178364 semapv:UnspecifiedMatching DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref UMLS_CUI:C1864690 semapv:UnspecifiedMatching -DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref UMLS_CUI:C1832661 semapv:UnspecifiedMatching -DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref ORDO:2470 semapv:UnspecifiedMatching +DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref MESH:C566441 semapv:UnspecifiedMatching +DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref GARD:3692 semapv:UnspecifiedMatching +DOID:0111806 syndromic microphthalmia 5 oboInOwl:hasDbXref OMIM:610125 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref MESH:C537768 semapv:UnspecifiedMatching DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref OMIM:601186 semapv:UnspecifiedMatching +DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref ORDO:2470 semapv:UnspecifiedMatching +DOID:0111807 syndromic microphthalmia 9 oboInOwl:hasDbXref UMLS_CUI:C1832661 semapv:UnspecifiedMatching DOID:0111808 linear skin defects with multiple congenital anomalies 1 oboInOwl:hasDbXref MESH:C537466 semapv:UnspecifiedMatching DOID:0111808 linear skin defects with multiple congenital anomalies 1 oboInOwl:hasDbXref OMIM:309801 semapv:UnspecifiedMatching +DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref ORDO:2712 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref GARD:4628 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref MESH:C537465 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref OMIM:300166 semapv:UnspecifiedMatching -DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref ORDO:2712 semapv:UnspecifiedMatching DOID:0111809 syndromic microphthalmia 2 oboInOwl:hasDbXref UMLS_CUI:C1846265 semapv:UnspecifiedMatching -DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref ORDO:431140 semapv:UnspecifiedMatching +DOID:0111811 syndromic microphthalmia 13 oboInOwl:hasDbXref OMIM:300915 semapv:UnspecifiedMatching +DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref ORDO:77299 semapv:UnspecifiedMatching DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref GARD:9292 semapv:UnspecifiedMatching DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref OMIM:611222 semapv:UnspecifiedMatching -DOID:0111812 syndromic microphthalmia 10 oboInOwl:hasDbXref ORDO:77299 semapv:UnspecifiedMatching -DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref UMLS_CUI:C1839728 semapv:UnspecifiedMatching -DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching -DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref ORDO:2498 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref GARD:3559 semapv:UnspecifiedMatching DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref MESH:C564100 semapv:UnspecifiedMatching +DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref OMIM:309630 semapv:UnspecifiedMatching +DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref ORDO:2498 semapv:UnspecifiedMatching +DOID:0111813 syndactyly type 8 oboInOwl:hasDbXref UMLS_CUI:C1839728 semapv:UnspecifiedMatching DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type oboInOwl:hasDbXref OMIM:309541 semapv:UnspecifiedMatching DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type oboInOwl:hasDbXref ORDO:369962 semapv:UnspecifiedMatching DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis oboInOwl:hasDbXref OMIM:308990 semapv:UnspecifiedMatching DOID:0111816 syndactyly type 1 oboInOwl:hasDbXref GARD:5081 semapv:UnspecifiedMatching DOID:0111816 syndactyly type 1 oboInOwl:hasDbXref OMIM:185900 semapv:UnspecifiedMatching DOID:0111816 syndactyly type 1 oboInOwl:hasDbXref ORDO:93402 semapv:UnspecifiedMatching -DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref GARD:5088 semapv:UnspecifiedMatching -DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching +DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref UMLS_CUI:C1861366 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref OMIM:186100 semapv:UnspecifiedMatching DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref ORDO:93404 semapv:UnspecifiedMatching -DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref UMLS_CUI:C1861366 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref UMLS_CUI:C1861355 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref ORDO:93405 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching -DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref MESH:C566092 semapv:UnspecifiedMatching +DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref GARD:5088 semapv:UnspecifiedMatching +DOID:0111817 syndactyly type 3 oboInOwl:hasDbXref MESH:C538154 semapv:UnspecifiedMatching DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref GARD:4434 semapv:UnspecifiedMatching +DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref MESH:C566092 semapv:UnspecifiedMatching +DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref OMIM:186200 semapv:UnspecifiedMatching +DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref ORDO:93405 semapv:UnspecifiedMatching +DOID:0111818 syndactyly type 4 oboInOwl:hasDbXref UMLS_CUI:C1861355 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref GARD:5089 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref MESH:C538155 semapv:UnspecifiedMatching DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref OMIM:186300 semapv:UnspecifiedMatching @@ -11078,16 +11104,16 @@ DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref ORDO:93406 semapv:UnspecifiedM DOID:0111819 syndactyly type 5 oboInOwl:hasDbXref UMLS_CUI:C1861348 semapv:UnspecifiedMatching DOID:0111820 zygodactyly 1 oboInOwl:hasDbXref MESH:C565223 semapv:UnspecifiedMatching DOID:0111820 zygodactyly 1 oboInOwl:hasDbXref OMIM:609815 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref GARD:2952 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching -DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref ORDO:2273 semapv:UnspecifiedMatching DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C1839988 semapv:UnspecifiedMatching -DOID:0111822 CHILD syndrome oboInOwl:hasDbXref UMLS_CUI:C0265267 semapv:UnspecifiedMatching -DOID:0111822 CHILD syndrome oboInOwl:hasDbXref ORDO:139 semapv:UnspecifiedMatching +DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref ORDO:2273 semapv:UnspecifiedMatching +DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching +DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching +DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 oboInOwl:hasDbXref GARD:2952 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref GARD:6039 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref MESH:C562515 semapv:UnspecifiedMatching DOID:0111822 CHILD syndrome oboInOwl:hasDbXref OMIM:308050 semapv:UnspecifiedMatching +DOID:0111822 CHILD syndrome oboInOwl:hasDbXref ORDO:139 semapv:UnspecifiedMatching +DOID:0111822 CHILD syndrome oboInOwl:hasDbXref UMLS_CUI:C0265267 semapv:UnspecifiedMatching DOID:0111823 autosomal hemophilia A oboInOwl:hasDbXref OMIM:134500 semapv:UnspecifiedMatching DOID:0111824 Aarskog syndrome oboInOwl:hasDbXref ORDO:915 semapv:UnspecifiedMatching DOID:0111825 autosomal dominant Aarskog syndrome oboInOwl:hasDbXref OMIM:100050 semapv:UnspecifiedMatching @@ -11096,11 +11122,11 @@ DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref MESH:C535559 semapv:Un DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref OMIM:302905 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref ORDO:921 semapv:UnspecifiedMatching DOID:0111826 Abruzzo-Erickson syndrome oboInOwl:hasDbXref UMLS_CUI:C1844862 semapv:UnspecifiedMatching -DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:1145 semapv:UnspecifiedMatching -DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:301830 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref UMLS_CUI:C1844934 semapv:UnspecifiedMatching +DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref ORDO:1145 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref GARD:8521 semapv:UnspecifiedMatching DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref MESH:C535380 semapv:UnspecifiedMatching +DOID:0111827 X-linked spinal muscular atrophy 2 oboInOwl:hasDbXref OMIM:301830 semapv:UnspecifiedMatching DOID:0111828 X-linked cerebellar ataxia oboInOwl:hasDbXref ORDO:247765 semapv:UnspecifiedMatching DOID:0111829 X-linked spinocerebellar ataxia 1 oboInOwl:hasDbXref OMIM:302500 semapv:UnspecifiedMatching DOID:0111829 X-linked spinocerebellar ataxia 1 oboInOwl:hasDbXref ORDO:1175 semapv:UnspecifiedMatching @@ -11111,32 +11137,32 @@ DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref MESH:C537315 s DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref OMIM:301790 semapv:UnspecifiedMatching DOID:0111831 X-linked spinocerebellar ataxia 3 oboInOwl:hasDbXref ORDO:85297 semapv:UnspecifiedMatching DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref ORDO:85292 semapv:UnspecifiedMatching -DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref GARD:9980 semapv:UnspecifiedMatching -DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537316 semapv:UnspecifiedMatching DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref OMIM:301840 semapv:UnspecifiedMatching -DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref UMLS_CUI:C2678048 semapv:UnspecifiedMatching -DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref ORDO:314978 semapv:UnspecifiedMatching -DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching +DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref MESH:C537316 semapv:UnspecifiedMatching +DOID:0111832 X-linked spinocerebellar ataxia 4 oboInOwl:hasDbXref GARD:9980 semapv:UnspecifiedMatching DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref MESH:C567478 semapv:UnspecifiedMatching +DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref OMIM:300703 semapv:UnspecifiedMatching +DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref ORDO:314978 semapv:UnspecifiedMatching +DOID:0111833 X-linked spinocerebellar ataxia 5 oboInOwl:hasDbXref UMLS_CUI:C2678048 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref MESH:C564461 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref ORDO:85453 semapv:UnspecifiedMatching DOID:0111834 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS_CUI:C1845050 semapv:UnspecifiedMatching DOID:0111835 congenital nongoitrous hypothyroidism 9 oboInOwl:hasDbXref OMIM:301035 semapv:UnspecifiedMatching -DOID:0111836 congenital nongoitrous hypothyroidism 7 oboInOwl:hasDbXref ORDO:99832 semapv:UnspecifiedMatching DOID:0111836 congenital nongoitrous hypothyroidism 7 oboInOwl:hasDbXref OMIM:618573 semapv:UnspecifiedMatching +DOID:0111836 congenital nongoitrous hypothyroidism 7 oboInOwl:hasDbXref ORDO:99832 semapv:UnspecifiedMatching DOID:0111837 congenital nongoitrous hypothyroidism 8 oboInOwl:hasDbXref OMIM:301033 semapv:UnspecifiedMatching DOID:0111838 Basilicata-Akhtar syndrome oboInOwl:hasDbXref OMIM:301032 semapv:UnspecifiedMatching DOID:0111839 congenital disorder of glycosylation Icc oboInOwl:hasDbXref OMIM:301031 semapv:UnspecifiedMatching DOID:0111840 Van Esch-O'Driscoll syndrome oboInOwl:hasDbXref OMIM:301030 semapv:UnspecifiedMatching DOID:0111840 Van Esch-O'Driscoll syndrome oboInOwl:hasDbXref ORDO:163976 semapv:UnspecifiedMatching DOID:0111841 Shukla-Vernon syndrome oboInOwl:hasDbXref OMIM:301029 semapv:UnspecifiedMatching -DOID:0111842 Keipert syndrome oboInOwl:hasDbXref ORDO:2662 semapv:UnspecifiedMatching -DOID:0111842 Keipert syndrome oboInOwl:hasDbXref UMLS_CUI:C1850627 semapv:UnspecifiedMatching -DOID:0111842 Keipert syndrome oboInOwl:hasDbXref OMIM:301026 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref GARD:267 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref MESH:C538337 semapv:UnspecifiedMatching DOID:0111842 Keipert syndrome oboInOwl:hasDbXref NCI:C186306 semapv:UnspecifiedMatching +DOID:0111842 Keipert syndrome oboInOwl:hasDbXref OMIM:301026 semapv:UnspecifiedMatching +DOID:0111842 Keipert syndrome oboInOwl:hasDbXref ORDO:2662 semapv:UnspecifiedMatching +DOID:0111842 Keipert syndrome oboInOwl:hasDbXref UMLS_CUI:C1850627 semapv:UnspecifiedMatching DOID:0111843 Paganini-Miozzo syndrome oboInOwl:hasDbXref OMIM:301025 semapv:UnspecifiedMatching DOID:0111844 X-linked intellectual developmental disorder 108 oboInOwl:hasDbXref OMIM:301024 semapv:UnspecifiedMatching DOID:0111845 Mullegama-Klein-Martinez syndrome oboInOwl:hasDbXref OMIM:301022 semapv:UnspecifiedMatching @@ -11162,9 +11188,9 @@ DOID:0111861 Meester-Loeys syndrome oboInOwl:hasDbXref OMIM:300989 semapv:Unspec DOID:0111862 congenital bilateral absence of vas deferens oboInOwl:hasDbXref ORDO:48 semapv:UnspecifiedMatching DOID:0111863 X-linked congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:300985 semapv:UnspecifiedMatching DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens oboInOwl:hasDbXref OMIM:277180 semapv:UnspecifiedMatching -DOID:0111865 MEND syndrome oboInOwl:hasDbXref UMLS_CUI:C4085243 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome oboInOwl:hasDbXref OMIM:300960 semapv:UnspecifiedMatching DOID:0111865 MEND syndrome oboInOwl:hasDbXref ORDO:401973 semapv:UnspecifiedMatching +DOID:0111865 MEND syndrome oboInOwl:hasDbXref UMLS_CUI:C4085243 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref NCI:C4924 semapv:UnspecifiedMatching DOID:0111866 trichothiodystrophy oboInOwl:hasDbXref OMIMPS:601675 semapv:UnspecifiedMatching @@ -11177,11 +11203,11 @@ DOID:0111869 photosensitive trichothiodystrophy 2 oboInOwl:hasDbXref OMIM:616390 DOID:0111870 nonphotosensitive trichothiodystrophy 7 oboInOwl:hasDbXref OMIM:618546 semapv:UnspecifiedMatching DOID:0111871 photosensitive trichothiodystrophy 3 oboInOwl:hasDbXref OMIM:616395 semapv:UnspecifiedMatching DOID:0111872 nonphotosensitive trichothiodystrophy 6 oboInOwl:hasDbXref OMIM:616943 semapv:UnspecifiedMatching -DOID:0111873 photosensitive trichothiodystrophy 1 oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching DOID:0111873 photosensitive trichothiodystrophy 1 oboInOwl:hasDbXref NCI:C156433 semapv:UnspecifiedMatching +DOID:0111873 photosensitive trichothiodystrophy 1 oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching +DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref MESH:C536320 semapv:UnspecifiedMatching DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref OMIM:211390 semapv:UnspecifiedMatching DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref ORDO:3123 semapv:UnspecifiedMatching -DOID:0111874 Sabinas brittle hair syndrome oboInOwl:hasDbXref MESH:C536320 semapv:UnspecifiedMatching DOID:0111875 MLS syndrome oboInOwl:hasDbXref OMIMPS:309801 semapv:UnspecifiedMatching DOID:0111876 linear skin defects with multiple congenital anomalies 3 oboInOwl:hasDbXref OMIM:300952 semapv:UnspecifiedMatching DOID:0111877 linear skin defects with multiple congenital anomalies 2 oboInOwl:hasDbXref OMIM:300887 semapv:UnspecifiedMatching @@ -11190,13 +11216,13 @@ DOID:0111878 Diamond-Blackfan anemia 7 oboInOwl:hasDbXref OMIM:612562 semapv:Uns DOID:0111879 Diamond-Blackfan anemia 6 oboInOwl:hasDbXref MESH:C538442 semapv:UnspecifiedMatching DOID:0111879 Diamond-Blackfan anemia 6 oboInOwl:hasDbXref OMIM:612561 semapv:UnspecifiedMatching DOID:0111880 Diamond-Blackfan anemia 17 oboInOwl:hasDbXref OMIM:617409 semapv:UnspecifiedMatching -DOID:0111881 Diamond-Blackfan anemia 8 oboInOwl:hasDbXref MESH:C567253 semapv:UnspecifiedMatching DOID:0111881 Diamond-Blackfan anemia 8 oboInOwl:hasDbXref OMIM:612563 semapv:UnspecifiedMatching +DOID:0111881 Diamond-Blackfan anemia 8 oboInOwl:hasDbXref MESH:C567253 semapv:UnspecifiedMatching DOID:0111882 Diamond-Blackfan anemia 12 oboInOwl:hasDbXref OMIM:615550 semapv:UnspecifiedMatching DOID:0111883 Diamond-Blackfan anemia 5 oboInOwl:hasDbXref MESH:C567280 semapv:UnspecifiedMatching DOID:0111883 Diamond-Blackfan anemia 5 oboInOwl:hasDbXref OMIM:612528 semapv:UnspecifiedMatching -DOID:0111884 Diamond-Blackfan anemia 9 oboInOwl:hasDbXref OMIM:613308 semapv:UnspecifiedMatching DOID:0111884 Diamond-Blackfan anemia 9 oboInOwl:hasDbXref MESH:C567650 semapv:UnspecifiedMatching +DOID:0111884 Diamond-Blackfan anemia 9 oboInOwl:hasDbXref OMIM:613308 semapv:UnspecifiedMatching DOID:0111885 Diamond-Blackfan anemia 2 oboInOwl:hasDbXref MESH:C536130 semapv:UnspecifiedMatching DOID:0111885 Diamond-Blackfan anemia 2 oboInOwl:hasDbXref OMIM:606129 semapv:UnspecifiedMatching DOID:0111886 Diamond-Blackfan anemia 19 oboInOwl:hasDbXref OMIM:618312 semapv:UnspecifiedMatching @@ -11223,31 +11249,31 @@ DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref O DOID:0111899 X-linked thrombophilia due to factor IX defect oboInOwl:hasDbXref UMLS_CUI:C2749016 semapv:UnspecifiedMatching DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref OMIM:612336 semapv:UnspecifiedMatching DOID:0111900 autosomal dominant thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C3278211 semapv:UnspecifiedMatching +DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref UMLS_CUI:C0398626 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref MESH:C562865 semapv:UnspecifiedMatching DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref OMIM:612356 semapv:UnspecifiedMatching -DOID:0111901 heparin cofactor II deficiency oboInOwl:hasDbXref UMLS_CUI:C0398626 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref MESH:C566056 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref OMIM:188055 semapv:UnspecifiedMatching DOID:0111902 thrombophilia due to activated protein C resistance oboInOwl:hasDbXref UMLS_CUI:C1861171 semapv:UnspecifiedMatching -DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref UMLS_CUI:C2751090 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref OMIM:613116 semapv:UnspecifiedMatching DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref ORDO:217467 semapv:UnspecifiedMatching +DOID:0111903 thrombophilia due to HRG deficiency oboInOwl:hasDbXref UMLS_CUI:C2751090 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref MESH:C567353 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref OMIM:612304 semapv:UnspecifiedMatching DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C2676759 semapv:UnspecifiedMatching +DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C3281092 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref OMIM:614514 semapv:UnspecifiedMatching DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref ORDO:743 semapv:UnspecifiedMatching -DOID:0111905 autosomal recessive thrombophilia due to protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C3281092 semapv:UnspecifiedMatching +DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref UMLS_CUI:C2676721 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref MESH:C567341 semapv:UnspecifiedMatching DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref OMIM:612348 semapv:UnspecifiedMatching -DOID:0111906 thrombophilia due to decreased release of PLAT oboInOwl:hasDbXref UMLS_CUI:C2676721 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref GARD:10815 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref OMIM:188050 semapv:UnspecifiedMatching DOID:0111907 thrombophilia due to thrombin defect oboInOwl:hasDbXref UMLS_CUI:C3160733 semapv:UnspecifiedMatching -DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref UMLS_CUI:C3280976 semapv:UnspecifiedMatching -DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref OMIM:614486 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref MESH:C566057 semapv:UnspecifiedMatching +DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref OMIM:614486 semapv:UnspecifiedMatching DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref ORDO:436169 semapv:UnspecifiedMatching +DOID:0111908 thrombophilia due to thrombomodulin defect oboInOwl:hasDbXref UMLS_CUI:C3280976 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref MESH:C567163 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref OMIM:176860 semapv:UnspecifiedMatching DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C2674321 semapv:UnspecifiedMatching @@ -11272,46 +11298,46 @@ DOID:0111927 spermatogenic failure 37 oboInOwl:hasDbXref OMIM:618429 semapv:Unsp DOID:0111928 spermatogenic failure 27 oboInOwl:hasDbXref OMIM:617965 semapv:UnspecifiedMatching DOID:0111929 spermatogenic failure 24 oboInOwl:hasDbXref OMIM:617959 semapv:UnspecifiedMatching DOID:0111930 spermatogenic failure 29 oboInOwl:hasDbXref OMIM:618091 semapv:UnspecifiedMatching -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ORDO:140952 semapv:UnspecifiedMatching -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref OMIM:300707 semapv:UnspecifiedMatching -DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS_CUI:C2678045 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref GARD:10295 semapv:UnspecifiedMatching DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref MESH:C567475 semapv:UnspecifiedMatching -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref UMLS_CUI:C1968556 semapv:UnspecifiedMatching -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref ORDO:209370 semapv:UnspecifiedMatching +DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref OMIM:300707 semapv:UnspecifiedMatching +DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref ORDO:140952 semapv:UnspecifiedMatching +DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome oboInOwl:hasDbXref UMLS_CUI:C2678045 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref MESH:C566878 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref NCI:C132293 semapv:UnspecifiedMatching DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching +DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref ORDO:209370 semapv:UnspecifiedMatching +DOID:0111932 severe congenital encephalopathy due to MECP2 mutation oboInOwl:hasDbXref UMLS_CUI:C1968556 semapv:UnspecifiedMatching +DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS_CUI:C1970848 semapv:UnspecifiedMatching +DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ORDO:713 semapv:UnspecifiedMatching +DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref GARD:7389 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref MESH:C567067 semapv:UnspecifiedMatching DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref NCI:C126738 semapv:UnspecifiedMatching -DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching -DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ORDO:713 semapv:UnspecifiedMatching -DOID:0111933 phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref UMLS_CUI:C1970848 semapv:UnspecifiedMatching DOID:0111934 immunodeficiency 38 oboInOwl:hasDbXref OMIM:616126 semapv:UnspecifiedMatching DOID:0111934 immunodeficiency 38 oboInOwl:hasDbXref ORDO:319563 semapv:UnspecifiedMatching +DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref ORDO:431149 semapv:UnspecifiedMatching DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref UMLS_CUI:C3810053 semapv:UnspecifiedMatching -DOID:0111935 immunodeficiency 16 oboInOwl:hasDbXref OMIM:615593 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref GARD:11983 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref MESH:C585640 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref NCI:C176015 semapv:UnspecifiedMatching -DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref ORDO:397596 semapv:UnspecifiedMatching +DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref OMIM:615513 semapv:UnspecifiedMatching DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref UMLS_CUI:C3714976 semapv:UnspecifiedMatching -DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref NCI:C176808 semapv:UnspecifiedMatching -DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref OMIM:615758 semapv:UnspecifiedMatching +DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref MESH:C585640 semapv:UnspecifiedMatching +DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref GARD:11983 semapv:UnspecifiedMatching +DOID:0111936 immunodeficiency 14 oboInOwl:hasDbXref NCI:C176015 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref ORDO:280142 semapv:UnspecifiedMatching DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref UMLS_CUI:C4014233 semapv:UnspecifiedMatching -DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref ORDO:420573 semapv:UnspecifiedMatching -DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref OMIM:615897 semapv:UnspecifiedMatching +DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref NCI:C176808 semapv:UnspecifiedMatching +DOID:0111937 immunodeficiency 22 oboInOwl:hasDbXref OMIM:615758 semapv:UnspecifiedMatching DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref UMLS_CUI:C4014617 semapv:UnspecifiedMatching +DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref OMIM:615897 semapv:UnspecifiedMatching +DOID:0111938 immunodeficiency 24 oboInOwl:hasDbXref ORDO:420573 semapv:UnspecifiedMatching DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref OMIM:616098 semapv:UnspecifiedMatching DOID:0111939 immunodeficiency 37 oboInOwl:hasDbXref UMLS_CUI:C4015195 semapv:UnspecifiedMatching DOID:0111940 immunodeficiency 42 oboInOwl:hasDbXref OMIM:616622 semapv:UnspecifiedMatching DOID:0111940 immunodeficiency 42 oboInOwl:hasDbXref ORDO:477857 semapv:UnspecifiedMatching -DOID:0111941 immunodeficiency 20 oboInOwl:hasDbXref ORDO:437552 semapv:UnspecifiedMatching DOID:0111941 immunodeficiency 20 oboInOwl:hasDbXref OMIM:615707 semapv:UnspecifiedMatching +DOID:0111941 immunodeficiency 20 oboInOwl:hasDbXref ORDO:437552 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref MESH:C565712 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref OMIM:610163 semapv:UnspecifiedMatching DOID:0111942 immunodeficiency 25 oboInOwl:hasDbXref UMLS_CUI:C1857798 semapv:UnspecifiedMatching @@ -11320,47 +11346,47 @@ DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref MESH:C537590 semapv:Unspecif DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref OMIM:269840 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref ORDO:911 semapv:UnspecifiedMatching DOID:0111943 immunodeficiency 48 oboInOwl:hasDbXref UMLS_CUI:C1849236 semapv:UnspecifiedMatching -DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref ORDO:391311 semapv:UnspecifiedMatching +DOID:0111944 immunodeficiency 31B oboInOwl:hasDbXref OMIM:613796 semapv:UnspecifiedMatching DOID:0111945 immunodeficiency 31A oboInOwl:hasDbXref OMIM:614892 semapv:UnspecifiedMatching DOID:0111945 immunodeficiency 31A oboInOwl:hasDbXref ORDO:319595 semapv:UnspecifiedMatching -DOID:0111946 immunodeficiency 31C oboInOwl:hasDbXref ORDO:391487 semapv:UnspecifiedMatching DOID:0111946 immunodeficiency 31C oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching +DOID:0111946 immunodeficiency 31C oboInOwl:hasDbXref ORDO:391487 semapv:UnspecifiedMatching +DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref GARD:10934 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref MESH:D000077428 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref NCI:C126349 semapv:UnspecifiedMatching -DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching DOID:0111947 immunodeficiency 21 oboInOwl:hasDbXref ORDO:228423 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref OMIM:616740 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref ORDO:476113 semapv:UnspecifiedMatching DOID:0111948 immunodeficiency 46 oboInOwl:hasDbXref UMLS_CUI:C4225219 semapv:UnspecifiedMatching -DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref NCI:C176703 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref OMIM:616005 semapv:UnspecifiedMatching DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref UMLS_CUI:C4014934 semapv:UnspecifiedMatching -DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref OMIM:614890 semapv:UnspecifiedMatching +DOID:0111949 immunodeficiency 36 oboInOwl:hasDbXref NCI:C176703 semapv:UnspecifiedMatching DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref ORDO:319558 semapv:UnspecifiedMatching -DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref UMLS_CUI:C4225328 semapv:UnspecifiedMatching +DOID:0111950 immunodeficiency 29 oboInOwl:hasDbXref OMIM:614890 semapv:UnspecifiedMatching +DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref GARD:12653 semapv:UnspecifiedMatching +DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref NCI:C176799 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref OMIM:616433 semapv:UnspecifiedMatching DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref ORDO:447737 semapv:UnspecifiedMatching -DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref NCI:C176799 semapv:UnspecifiedMatching -DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref GARD:12653 semapv:UnspecifiedMatching +DOID:0111951 immunodeficiency 40 oboInOwl:hasDbXref UMLS_CUI:C4225328 semapv:UnspecifiedMatching DOID:0111952 immunodeficiency 57 oboInOwl:hasDbXref OMIM:618108 semapv:UnspecifiedMatching DOID:0111952 immunodeficiency 57 oboInOwl:hasDbXref ORDO:529977 semapv:UnspecifiedMatching -DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref ORDO:443811 semapv:UnspecifiedMatching -DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching -DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref UMLS_CUI:C4014371 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref GARD:4331 semapv:UnspecifiedMatching DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref NCI:C126339 semapv:UnspecifiedMatching +DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching +DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref ORDO:443811 semapv:UnspecifiedMatching +DOID:0111953 immunodeficiency 23 oboInOwl:hasDbXref UMLS_CUI:C4014371 semapv:UnspecifiedMatching DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref OMIM:618394 semapv:UnspecifiedMatching DOID:0111954 immunodeficiency 60 oboInOwl:hasDbXref UMLS_CUI:C5193072 semapv:UnspecifiedMatching -DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref MESH:C535530 semapv:UnspecifiedMatching -DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref ORDO:319569 semapv:UnspecifiedMatching +DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref OMIM:209950 semapv:UnspecifiedMatching +DOID:0111955 immunodeficiency 27A oboInOwl:hasDbXref MESH:C535530 semapv:UnspecifiedMatching DOID:0111956 immunodeficiency 27B oboInOwl:hasDbXref OMIM:615978 semapv:UnspecifiedMatching DOID:0111956 immunodeficiency 27B oboInOwl:hasDbXref ORDO:319581 semapv:UnspecifiedMatching -DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref UMLS_CUI:C3554686 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref OMIM:615206 semapv:UnspecifiedMatching DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref ORDO:357237 semapv:UnspecifiedMatching +DOID:0111957 immunodeficiency 11A oboInOwl:hasDbXref UMLS_CUI:C3554686 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref NCI:C176630 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref OMIM:617638 semapv:UnspecifiedMatching DOID:0111958 immunodeficiency 11B oboInOwl:hasDbXref UMLS_CUI:C4539957 semapv:UnspecifiedMatching @@ -11369,59 +11395,59 @@ DOID:0111959 immunodeficiency 15B oboInOwl:hasDbXref UMLS_CUI:C4747743 semapv:Un DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref OMIM:618204 semapv:UnspecifiedMatching DOID:0111960 immunodeficiency 15A oboInOwl:hasDbXref UMLS_CUI:C4748694 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref UMLS_CUI:C4014833 semapv:UnspecifiedMatching +DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref ORDO:317425 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref NCI:C176795 semapv:UnspecifiedMatching DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref OMIM:615966 semapv:UnspecifiedMatching -DOID:0111961 immunodeficiency 26 oboInOwl:hasDbXref ORDO:317425 semapv:UnspecifiedMatching DOID:0111962 combined immunodeficiency oboInOwl:hasDbXref NCI:C27871 semapv:UnspecifiedMatching -DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref UMLS_CUI:C1864947 semapv:UnspecifiedMatching -DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref ORDO:75391 semapv:UnspecifiedMatching +DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref MESH:C566492 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref NCI:C123729 semapv:UnspecifiedMatching DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref OMIM:609981 semapv:UnspecifiedMatching -DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref MESH:C566492 semapv:UnspecifiedMatching +DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref ORDO:75391 semapv:UnspecifiedMatching +DOID:0111967 immunodeficiency 54 oboInOwl:hasDbXref UMLS_CUI:C1864947 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref MESH:C565232 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref OMIM:606367 semapv:UnspecifiedMatching DOID:0111968 immunodeficiency 41 oboInOwl:hasDbXref ORDO:169100 semapv:UnspecifiedMatching DOID:0111969 immunodeficiency 39 oboInOwl:hasDbXref OMIM:616345 semapv:UnspecifiedMatching -DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref MESH:C557827 semapv:UnspecifiedMatching -DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref ORDO:317430 semapv:UnspecifiedMatching DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref UMLS_CUI:C2748557 semapv:UnspecifiedMatching +DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref MESH:C557827 semapv:UnspecifiedMatching +DOID:0111970 immunodeficiency 10 oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching DOID:0111971 immunodeficiency 18 oboInOwl:hasDbXref OMIM:615615 semapv:UnspecifiedMatching DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref OMIM:615617 semapv:UnspecifiedMatching DOID:0111972 immunodeficiency 19 oboInOwl:hasDbXref UMLS_CUI:C3810147 semapv:UnspecifiedMatching DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref OMIM:615607 semapv:UnspecifiedMatching DOID:0111973 immunodeficiency 17 oboInOwl:hasDbXref UMLS_CUI:C3810107 semapv:UnspecifiedMatching -DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref UMLS_CUI:C1856263 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref MESH:C565535 semapv:UnspecifiedMatching DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref OMIM:233600 semapv:UnspecifiedMatching +DOID:0111974 immunodeficiency 59 oboInOwl:hasDbXref UMLS_CUI:C1856263 semapv:UnspecifiedMatching DOID:0111975 immunodeficiency 44 oboInOwl:hasDbXref OMIM:616636 semapv:UnspecifiedMatching +DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref UMLS_CUI:C2748568 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref MESH:C557826 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref ORDO:317428 semapv:UnspecifiedMatching -DOID:0111976 immunodeficiency 9 oboInOwl:hasDbXref UMLS_CUI:C2748568 semapv:UnspecifiedMatching -DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching -DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref ORDO:397959 semapv:UnspecifiedMatching DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref UMLS_CUI:C3809332 semapv:UnspecifiedMatching +DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref ORDO:397959 semapv:UnspecifiedMatching +DOID:0111977 immunodeficiency 7 oboInOwl:hasDbXref OMIM:615387 semapv:UnspecifiedMatching DOID:0111978 immunodeficiency 65 oboInOwl:hasDbXref OMIM:618648 semapv:UnspecifiedMatching DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref OMIM:617237 semapv:UnspecifiedMatching DOID:0111979 immunodeficiency 49 oboInOwl:hasDbXref UMLS_CUI:C4310656 semapv:UnspecifiedMatching DOID:0111980 immunodeficiency 64 oboInOwl:hasDbXref OMIM:618534 semapv:UnspecifiedMatching -DOID:0111981 immunodeficiency 43 oboInOwl:hasDbXref OMIM:241600 semapv:UnspecifiedMatching DOID:0111981 immunodeficiency 43 oboInOwl:hasDbXref MESH:C565476 semapv:UnspecifiedMatching +DOID:0111981 immunodeficiency 43 oboInOwl:hasDbXref OMIM:241600 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref OMIM:615207 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref ORDO:357329 semapv:UnspecifiedMatching DOID:0111982 immunodeficiency 56 oboInOwl:hasDbXref UMLS_CUI:C3554687 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref OMIM:617514 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref ORDO:504523 semapv:UnspecifiedMatching DOID:0111983 immunodeficiency 52 oboInOwl:hasDbXref UMLS_CUI:C4479588 semapv:UnspecifiedMatching -DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching -DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref ORDO:542301 semapv:UnspecifiedMatching DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref UMLS_CUI:C4748304 semapv:UnspecifiedMatching +DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref ORDO:542301 semapv:UnspecifiedMatching +DOID:0111984 immunodeficiency 58 oboInOwl:hasDbXref OMIM:618131 semapv:UnspecifiedMatching DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref OMIM:226990 semapv:UnspecifiedMatching DOID:0111985 immunodeficiency 32B oboInOwl:hasDbXref UMLS_CUI:C4016741 semapv:UnspecifiedMatching +DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref OMIM:614893 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref ORDO:319600 semapv:UnspecifiedMatching DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref UMLS_CUI:C3808589 semapv:UnspecifiedMatching -DOID:0111986 immunodeficiency 32A oboInOwl:hasDbXref OMIM:614893 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref GARD:12375 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching DOID:0111987 immunodeficiency 13 oboInOwl:hasDbXref ORDO:228000 semapv:UnspecifiedMatching @@ -11431,14 +11457,14 @@ DOID:0111988 immunodeficiency 12 oboInOwl:hasDbXref ORDO:397964 semapv:Unspecifi DOID:0111989 immunodeficiency 35 oboInOwl:hasDbXref MESH:C566928 semapv:UnspecifiedMatching DOID:0111989 immunodeficiency 35 oboInOwl:hasDbXref OMIM:611521 semapv:UnspecifiedMatching DOID:0111989 immunodeficiency 35 oboInOwl:hasDbXref ORDO:331226 semapv:UnspecifiedMatching +DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref UMLS_CUI:C4013949 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref ORDO:319552 semapv:UnspecifiedMatching -DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref NCI:C176800 semapv:UnspecifiedMatching DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref OMIM:614891 semapv:UnspecifiedMatching -DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref UMLS_CUI:C4013949 semapv:UnspecifiedMatching -DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref UMLS_CUI:C5193109 semapv:UnspecifiedMatching +DOID:0111990 immunodeficiency 30 oboInOwl:hasDbXref NCI:C176800 semapv:UnspecifiedMatching DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref OMIM:618459 semapv:UnspecifiedMatching -DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref UMLS_CUI:C4539811 semapv:UnspecifiedMatching +DOID:0111991 immunodeficiency 62 oboInOwl:hasDbXref UMLS_CUI:C5193109 semapv:UnspecifiedMatching DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref OMIM:617585 semapv:UnspecifiedMatching +DOID:0111992 immunodeficiency 53 oboInOwl:hasDbXref UMLS_CUI:C4539811 semapv:UnspecifiedMatching DOID:0111993 immunodeficiency 55 oboInOwl:hasDbXref OMIM:617827 semapv:UnspecifiedMatching DOID:0111993 immunodeficiency 55 oboInOwl:hasDbXref ORDO:505227 semapv:UnspecifiedMatching DOID:0111994 immunodeficiency 45 oboInOwl:hasDbXref OMIM:616669 semapv:UnspecifiedMatching @@ -11448,12 +11474,12 @@ DOID:0111996 immunodeficiency 51 oboInOwl:hasDbXref OMIM:613953 semapv:Unspecifi DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref OMIM:618495 semapv:UnspecifiedMatching DOID:0111997 immunodeficiency 63 oboInOwl:hasDbXref UMLS_CUI:C5193126 semapv:UnspecifiedMatching DOID:0111998 immunodeficiency 66 oboInOwl:hasDbXref OMIM:618847 semapv:UnspecifiedMatching -DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref MESH:C538057 semapv:UnspecifiedMatching -DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref UMLS_CUI:C1845903 semapv:UnspecifiedMatching +DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref OMIM:300310 semapv:UnspecifiedMatching +DOID:0111999 immunodeficiency 61 oboInOwl:hasDbXref MESH:C538057 semapv:UnspecifiedMatching +DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref MESH:C567068 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref UMLS_CUI:C1970859 semapv:UnspecifiedMatching -DOID:0112000 immunodeficiency 34 oboInOwl:hasDbXref MESH:C567068 semapv:UnspecifiedMatching DOID:0112001 immunodeficiency 50 oboInOwl:hasDbXref OMIM:300988 semapv:UnspecifiedMatching DOID:0112001 immunodeficiency 50 oboInOwl:hasDbXref ORDO:504530 semapv:UnspecifiedMatching DOID:0112002 immunodeficiency 47 oboInOwl:hasDbXref OMIM:300972 semapv:UnspecifiedMatching @@ -11467,9 +11493,9 @@ DOID:0112007 growth hormone secreting pituitary adenoma 2 oboInOwl:hasDbXref OMI DOID:0112008 pituitary adenoma 5 oboInOwl:hasDbXref OMIM:617540 semapv:UnspecifiedMatching DOID:0112009 pituitary adenoma 1 oboInOwl:hasDbXref OMIM:102200 semapv:UnspecifiedMatching DOID:0112010 pituitary adenoma 3 oboInOwl:hasDbXref OMIM:617686 semapv:UnspecifiedMatching +DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref GARD:4075 semapv:UnspecifiedMatching DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MEDDRA:10068842 semapv:UnspecifiedMatching DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ORDO:659 semapv:UnspecifiedMatching -DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref GARD:4075 semapv:UnspecifiedMatching DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:300918 semapv:UnspecifiedMatching DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:614594 semapv:UnspecifiedMatching DOID:0112014 congenital megabladder oboInOwl:hasDbXref OMIM:618719 semapv:UnspecifiedMatching @@ -11484,8 +11510,8 @@ DOID:0112021 non-syndromic X-linked intellectual disability ARX-related oboInOwl DOID:0112022 non-syndromic X-linked intellectual disability 21 oboInOwl:hasDbXref OMIM:300143 semapv:UnspecifiedMatching DOID:0112023 non-syndromic X-linked intellectual disability 20 oboInOwl:hasDbXref OMIM:300047 semapv:UnspecifiedMatching DOID:0112024 non-syndromic X-linked intellectual disability 58 oboInOwl:hasDbXref OMIM:300210 semapv:UnspecifiedMatching -DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref OMIM:300968 semapv:UnspecifiedMatching DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref GARD:13638 semapv:UnspecifiedMatching +DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref OMIM:300968 semapv:UnspecifiedMatching DOID:0112026 non-syndromic X-linked intellectual disability 99 oboInOwl:hasDbXref OMIM:300919 semapv:UnspecifiedMatching DOID:0112027 non-syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref GARD:8557 semapv:UnspecifiedMatching DOID:0112027 non-syndromic X-linked intellectual disability 14 oboInOwl:hasDbXref OMIM:300062 semapv:UnspecifiedMatching @@ -11512,8 +11538,8 @@ DOID:0112046 non-syndromic X-linked intellectual disability 97 oboInOwl:hasDbXre DOID:0112047 non-syndromic X-linked intellectual disability 53 oboInOwl:hasDbXref OMIM:300324 semapv:UnspecifiedMatching DOID:0112048 non-syndromic X-linked intellectual disability 101 oboInOwl:hasDbXref OMIM:300928 semapv:UnspecifiedMatching DOID:0112049 non-syndromic X-linked intellectual disability 23 oboInOwl:hasDbXref OMIM:300046 semapv:UnspecifiedMatching -DOID:0112050 non-syndromic X-linked intellectual disability 63 oboInOwl:hasDbXref GARD:5613 semapv:UnspecifiedMatching DOID:0112050 non-syndromic X-linked intellectual disability 63 oboInOwl:hasDbXref OMIM:300387 semapv:UnspecifiedMatching +DOID:0112050 non-syndromic X-linked intellectual disability 63 oboInOwl:hasDbXref GARD:5613 semapv:UnspecifiedMatching DOID:0112051 non-syndromic X-linked intellectual disability 30 oboInOwl:hasDbXref OMIM:300558 semapv:UnspecifiedMatching DOID:0112052 non-syndromic X-linked intellectual disability 82 oboInOwl:hasDbXref OMIM:300518 semapv:UnspecifiedMatching DOID:0112053 non-syndromic X-linked intellectual disability 88 oboInOwl:hasDbXref OMIM:300852 semapv:UnspecifiedMatching @@ -11528,10 +11554,10 @@ DOID:0112060 Raynaud-Claes syndrome oboInOwl:hasDbXref OMIM:300114 semapv:Unspec DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia oboInOwl:hasDbXref OMIM:618986 semapv:UnspecifiedMatching DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia oboInOwl:hasDbXref OMIM:618987 semapv:UnspecifiedMatching DOID:0112063 X-Linked immunodeficiency 74 oboInOwl:hasDbXref OMIM:301051 semapv:UnspecifiedMatching -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching -DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref ORDO:183707 semapv:UnspecifiedMatching DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref UMLS_CUI:C1842398 semapv:UnspecifiedMatching +DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref ORDO:183707 semapv:UnspecifiedMatching +DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching +DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching DOID:0112065 nuclear type mitochondrial complex I deficiency oboInOwl:hasDbXref OMIMPS:252010 semapv:UnspecifiedMatching DOID:0112066 nuclear type mitochondrial complex I deficiency 6 oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching DOID:0112067 nuclear type mitochondrial complex I deficiency 25 oboInOwl:hasDbXref OMIM:618246 semapv:UnspecifiedMatching @@ -11576,13 +11602,13 @@ DOID:0112103 Sotos syndrome 1 oboInOwl:hasDbXref OMIM:117550 semapv:UnspecifiedM DOID:0112104 Sotos syndrome 3 oboInOwl:hasDbXref OMIM:617169 semapv:UnspecifiedMatching DOID:0112105 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref OMIM:300911 semapv:UnspecifiedMatching DOID:0112105 X-linked parkinsonism-spasticity syndrome oboInOwl:hasDbXref ORDO:363654 semapv:UnspecifiedMatching -DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia oboInOwl:hasDbXref OMIM:300863 semapv:UnspecifiedMatching DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia oboInOwl:hasDbXref ORDO:163966 semapv:UnspecifiedMatching -DOID:0112107 McLeod syndrome oboInOwl:hasDbXref UMLS_CUI:C0398568 semapv:UnspecifiedMatching -DOID:0112107 McLeod syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching -DOID:0112107 McLeod syndrome oboInOwl:hasDbXref ORDO:59306 semapv:UnspecifiedMatching +DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia oboInOwl:hasDbXref OMIM:300863 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref GARD:10731 semapv:UnspecifiedMatching DOID:0112107 McLeod syndrome oboInOwl:hasDbXref MESH:C564038 semapv:UnspecifiedMatching +DOID:0112107 McLeod syndrome oboInOwl:hasDbXref OMIM:300842 semapv:UnspecifiedMatching +DOID:0112107 McLeod syndrome oboInOwl:hasDbXref ORDO:59306 semapv:UnspecifiedMatching +DOID:0112107 McLeod syndrome oboInOwl:hasDbXref UMLS_CUI:C0398568 semapv:UnspecifiedMatching DOID:0112108 myofibrillar myopathy 10 oboInOwl:hasDbXref OMIM:619040 semapv:UnspecifiedMatching DOID:0112109 spermatogenic failure 44 oboInOwl:hasDbXref OMIM:619044 semapv:UnspecifiedMatching DOID:0112110 combined oxidative phosphorylation deficiency 49 oboInOwl:hasDbXref OMIM:619024 semapv:UnspecifiedMatching @@ -11592,41 +11618,41 @@ DOID:0112113 combined oxidative phosphorylation deficiency 45 oboInOwl:hasDbXref DOID:0112114 combined oxidative phosphorylation deficiency 47 oboInOwl:hasDbXref OMIM:618958 semapv:UnspecifiedMatching DOID:0112115 combined oxidative phosphorylation deficiency 46 oboInOwl:hasDbXref OMIM:618952 semapv:UnspecifiedMatching DOID:0112116 combined oxidative phosphorylation deficiency 43 oboInOwl:hasDbXref OMIM:618851 semapv:UnspecifiedMatching -DOID:0112117 combined oxidative phosphorylation deficiency 40 oboInOwl:hasDbXref OMIM:618835 semapv:UnspecifiedMatching DOID:0112117 combined oxidative phosphorylation deficiency 40 oboInOwl:hasDbXref ORDO:570491 semapv:UnspecifiedMatching +DOID:0112117 combined oxidative phosphorylation deficiency 40 oboInOwl:hasDbXref OMIM:618835 semapv:UnspecifiedMatching DOID:0112118 combined oxidative phosphorylation deficiency 42 oboInOwl:hasDbXref OMIM:618839 semapv:UnspecifiedMatching DOID:0112119 combined oxidative phosphorylation deficiency 41 oboInOwl:hasDbXref OMIM:618838 semapv:UnspecifiedMatching -DOID:0112120 SHOX-related short stature oboInOwl:hasDbXref ORDO:314795 semapv:UnspecifiedMatching DOID:0112120 SHOX-related short stature oboInOwl:hasDbXref OMIM:300582 semapv:UnspecifiedMatching -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref MESH:C564491 semapv:UnspecifiedMatching -DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching +DOID:0112120 SHOX-related short stature oboInOwl:hasDbXref ORDO:314795 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref ORDO:93606 semapv:UnspecifiedMatching DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref UMLS_CUI:C1845202 semapv:UnspecifiedMatching +DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref MESH:C564491 semapv:UnspecifiedMatching +DOID:0112121 nephrogenic syndrome of inappropriate antidiuresis oboInOwl:hasDbXref OMIM:300539 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref MESH:C564505 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref OMIM:300491 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref ORDO:85294 semapv:UnspecifiedMatching DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders oboInOwl:hasDbXref UMLS_CUI:C1845343 semapv:UnspecifiedMatching -DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref GARD:12472 semapv:UnspecifiedMatching -DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref ORDO:369939 semapv:UnspecifiedMatching -DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections oboInOwl:hasDbXref OMIM:300455 semapv:UnspecifiedMatching +DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref OMIM:300475 semapv:UnspecifiedMatching +DOID:0112123 deafness, dystonia, and cerebral hypomyelination oboInOwl:hasDbXref GARD:12472 semapv:UnspecifiedMatching DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections oboInOwl:hasDbXref ORDO:247522 semapv:UnspecifiedMatching -DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching -DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref UMLS_CUI:C0585216 semapv:UnspecifiedMatching +DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections oboInOwl:hasDbXref OMIM:300455 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref MESH:C563023 semapv:UnspecifiedMatching +DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref OMIM:300448 semapv:UnspecifiedMatching DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref ORDO:231401 semapv:UnspecifiedMatching +DOID:0112125 alpha-thalassemia myelodysplasia syndrome oboInOwl:hasDbXref UMLS_CUI:C0585216 semapv:UnspecifiedMatching DOID:0112126 Stocco Dos Santos type X-linked intellectual disability oboInOwl:hasDbXref OMIM:300434 semapv:UnspecifiedMatching DOID:0112126 Stocco Dos Santos type X-linked intellectual disability oboInOwl:hasDbXref ORDO:85288 semapv:UnspecifiedMatching DOID:0112127 HRPT-related hyperuricemia oboInOwl:hasDbXref OMIM:300323 semapv:UnspecifiedMatching DOID:0112127 HRPT-related hyperuricemia oboInOwl:hasDbXref ORDO:79233 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref GARD:3981 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C564539 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref NCI:C176818 semapv:UnspecifiedMatching -DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref ORDO:86788 semapv:UnspecifiedMatching +DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS_CUI:C1845987 semapv:UnspecifiedMatching -DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref OMIM:617014 semapv:UnspecifiedMatching +DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C564539 semapv:UnspecifiedMatching +DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref GARD:3981 semapv:UnspecifiedMatching +DOID:0112128 X-linked severe congenital neutropenia oboInOwl:hasDbXref NCI:C176818 semapv:UnspecifiedMatching DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref ORDO:420702 semapv:UnspecifiedMatching +DOID:0112129 severe congenital neutropenia 7 oboInOwl:hasDbXref OMIM:617014 semapv:UnspecifiedMatching DOID:0112130 autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref GARD:9558 semapv:UnspecifiedMatching DOID:0112130 autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref ORDO:486 semapv:UnspecifiedMatching DOID:0112131 severe congenital neutropenia 2 oboInOwl:hasDbXref OMIM:613107 semapv:UnspecifiedMatching @@ -11658,10 +11684,10 @@ DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref OMIM:300244 semapv:Un DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref ORDO:88630 semapv:UnspecifiedMatching DOID:0112149 terminal osseous dysplasia oboInOwl:hasDbXref UMLS_CUI:C1846129 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1848097 semapv:UnspecifiedMatching -DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref ORDO:93349 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref GARD:4979 semapv:UnspecifiedMatching DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref MESH:C564714 semapv:UnspecifiedMatching +DOID:0112150 X-linked spondyloepimetaphyseal dysplasia oboInOwl:hasDbXref OMIM:300106 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref GARD:4528 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref OMIM:300004 semapv:UnspecifiedMatching DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome oboInOwl:hasDbXref ORDO:2508 semapv:UnspecifiedMatching @@ -11704,8 +11730,8 @@ DOID:0112172 hereditary combined deficiency of vitamin K-dependent clotting fact DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref MESH:C564741 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref OMIM:277450 semapv:UnspecifiedMatching DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 oboInOwl:hasDbXref UMLS_CUI:C1848534 semapv:UnspecifiedMatching -DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref MESH:C564393 semapv:UnspecifiedMatching DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref OMIM:607473 semapv:UnspecifiedMatching +DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 oboInOwl:hasDbXref MESH:C564393 semapv:UnspecifiedMatching DOID:0112175 spermatogenic failure 47 oboInOwl:hasDbXref OMIM:619102 semapv:UnspecifiedMatching DOID:0112176 spermatogenic failure 48 oboInOwl:hasDbXref OMIM:619108 semapv:UnspecifiedMatching DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome oboInOwl:hasDbXref ORDO:3109 semapv:UnspecifiedMatching @@ -11718,14 +11744,14 @@ DOID:0112180 urocanase deficiency oboInOwl:hasDbXref MESH:C536479 semapv:Unspeci DOID:0112180 urocanase deficiency oboInOwl:hasDbXref OMIM:276880 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref ORDO:210128 semapv:UnspecifiedMatching DOID:0112180 urocanase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268514 semapv:UnspecifiedMatching -DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref GARD:9212 semapv:UnspecifiedMatching DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref OMIM:276820 semapv:UnspecifiedMatching DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref ORDO:2879 semapv:UnspecifiedMatching +DOID:0112181 Schinzel type phocomelia oboInOwl:hasDbXref GARD:9212 semapv:UnspecifiedMatching DOID:0112182 mismatch repair cancer syndrome oboInOwl:hasDbXref OMIM:276300 semapv:UnspecifiedMatching DOID:0112182 mismatch repair cancer syndrome oboInOwl:hasDbXref ORDO:252202 semapv:UnspecifiedMatching DOID:0112183 familial thyroid dyshormonogenesis oboInOwl:hasDbXref ORDO:95716 semapv:UnspecifiedMatching -DOID:0112184 thyroid dyshormonogenesis 5 oboInOwl:hasDbXref OMIM:274900 semapv:UnspecifiedMatching DOID:0112184 thyroid dyshormonogenesis 5 oboInOwl:hasDbXref MESH:C562771 semapv:UnspecifiedMatching +DOID:0112184 thyroid dyshormonogenesis 5 oboInOwl:hasDbXref OMIM:274900 semapv:UnspecifiedMatching DOID:0112185 thyroid dyshormonogenesis 1 oboInOwl:hasDbXref MESH:C564766 semapv:UnspecifiedMatching DOID:0112185 thyroid dyshormonogenesis 1 oboInOwl:hasDbXref OMIM:274400 semapv:UnspecifiedMatching DOID:0112186 thyroid dyshormonogenesis 2A oboInOwl:hasDbXref MESH:C563206 semapv:UnspecifiedMatching @@ -11734,13 +11760,13 @@ DOID:0112187 thyroid dyshormonogenesis 3 oboInOwl:hasDbXref MESH:C562769 semapv: DOID:0112187 thyroid dyshormonogenesis 3 oboInOwl:hasDbXref OMIM:274700 semapv:UnspecifiedMatching DOID:0112188 thyroid dyshormonogenesis 4 oboInOwl:hasDbXref MESH:C562770 semapv:UnspecifiedMatching DOID:0112188 thyroid dyshormonogenesis 4 oboInOwl:hasDbXref OMIM:274800 semapv:UnspecifiedMatching -DOID:0112189 thyroid dyshormonogenesis 6 oboInOwl:hasDbXref MESH:C564608 semapv:UnspecifiedMatching DOID:0112189 thyroid dyshormonogenesis 6 oboInOwl:hasDbXref OMIM:607200 semapv:UnspecifiedMatching +DOID:0112189 thyroid dyshormonogenesis 6 oboInOwl:hasDbXref MESH:C564608 semapv:UnspecifiedMatching DOID:0112190 distal arthrogryposis type 1C oboInOwl:hasDbXref OMIM:619110 semapv:UnspecifiedMatching DOID:0112191 tetraamelia syndrome oboInOwl:hasDbXref GARD:386 semapv:UnspecifiedMatching DOID:0112191 tetraamelia syndrome oboInOwl:hasDbXref ORDO:3301 semapv:UnspecifiedMatching -DOID:0112192 tetraamelia syndrome 1 oboInOwl:hasDbXref OMIM:273395 semapv:UnspecifiedMatching DOID:0112192 tetraamelia syndrome 1 oboInOwl:hasDbXref GARD:5148 semapv:UnspecifiedMatching +DOID:0112192 tetraamelia syndrome 1 oboInOwl:hasDbXref OMIM:273395 semapv:UnspecifiedMatching DOID:0112193 tetraamelia syndrome 2 oboInOwl:hasDbXref GARD:5147 semapv:UnspecifiedMatching DOID:0112193 tetraamelia syndrome 2 oboInOwl:hasDbXref OMIM:618021 semapv:UnspecifiedMatching DOID:0112194 Filippi syndrome oboInOwl:hasDbXref GARD:62 semapv:UnspecifiedMatching @@ -11749,15 +11775,15 @@ DOID:0112194 Filippi syndrome oboInOwl:hasDbXref OMIM:272440 semapv:UnspecifiedM DOID:0112194 Filippi syndrome oboInOwl:hasDbXref ORDO:3255 semapv:UnspecifiedMatching DOID:0112195 spondyloperipheral dysplasia oboInOwl:hasDbXref OMIM:271700 semapv:UnspecifiedMatching DOID:0112195 spondyloperipheral dysplasia oboInOwl:hasDbXref ORDO:1856 semapv:UnspecifiedMatching -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref GARD:10616 semapv:UnspecifiedMatching -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref MESH:C564794 semapv:UnspecifiedMatching -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref OMIM:271665 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref ORDO:93358 semapv:UnspecifiedMatching +DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref OMIM:271665 semapv:UnspecifiedMatching DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref UMLS_CUI:C1849011 semapv:UnspecifiedMatching -DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref ORDO:93359 semapv:UnspecifiedMatching -DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref OMIMPS:271640 semapv:UnspecifiedMatching -DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref MESH:C562968 semapv:UnspecifiedMatching +DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref GARD:10616 semapv:UnspecifiedMatching +DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type oboInOwl:hasDbXref MESH:C564794 semapv:UnspecifiedMatching DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref GARD:4982 semapv:UnspecifiedMatching +DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref MESH:C562968 semapv:UnspecifiedMatching +DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref OMIMPS:271640 semapv:UnspecifiedMatching +DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref ORDO:93359 semapv:UnspecifiedMatching DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 oboInOwl:hasDbXref OMIM:271640 semapv:UnspecifiedMatching DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 oboInOwl:hasDbXref OMIM:603546 semapv:UnspecifiedMatching DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 oboInOwl:hasDbXref ORDO:93360 semapv:UnspecifiedMatching @@ -11785,9 +11811,9 @@ DOID:0112220 developmental and epileptic encephalopathy 86 oboInOwl:hasDbXref OM DOID:0112221 developmental and epileptic encephalopathy 87 oboInOwl:hasDbXref OMIM:618916 semapv:UnspecifiedMatching DOID:0112222 developmental and epileptic encephalopathy 88 oboInOwl:hasDbXref OMIM:618959 semapv:UnspecifiedMatching DOID:0112223 developmental and epileptic encephalopathy 89 oboInOwl:hasDbXref OMIM:619124 semapv:UnspecifiedMatching +DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref GARD:11009 semapv:UnspecifiedMatching DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref OMIM:614078 semapv:UnspecifiedMatching DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref ORDO:280586 semapv:UnspecifiedMatching -DOID:0112224 chondrodysplasia with joint dislocations gPAPP type oboInOwl:hasDbXref GARD:11009 semapv:UnspecifiedMatching DOID:0112225 BH4-deficient hyperphenylalaninemia B oboInOwl:hasDbXref OMIM:233910 semapv:UnspecifiedMatching DOID:0112225 BH4-deficient hyperphenylalaninemia B oboInOwl:hasDbXref ORDO:2102 semapv:UnspecifiedMatching DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome oboInOwl:hasDbXref OMIM:615722 semapv:UnspecifiedMatching @@ -11817,13 +11843,13 @@ DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome oboInOwl: DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome oboInOwl:hasDbXref OMIM:612079 semapv:UnspecifiedMatching DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome oboInOwl:hasDbXref ORDO:157954 semapv:UnspecifiedMatching DOID:0112245 focal segmental glomerulosclerosis 3 oboInOwl:hasDbXref OMIM:607832 semapv:UnspecifiedMatching -DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 semapv:UnspecifiedMatching DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref ORDO:35706 semapv:UnspecifiedMatching DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref GARD:12469 semapv:UnspecifiedMatching +DOID:0112246 glutaric acidemia type 3 oboInOwl:hasDbXref OMIM:231690 semapv:UnspecifiedMatching DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching +DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref GARD:5659 semapv:UnspecifiedMatching DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref OMIM:264300 semapv:UnspecifiedMatching DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ORDO:752 semapv:UnspecifiedMatching -DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref GARD:5659 semapv:UnspecifiedMatching DOID:0112249 GAPO syndrome oboInOwl:hasDbXref OMIM:230740 semapv:UnspecifiedMatching DOID:0112249 GAPO syndrome oboInOwl:hasDbXref ORDO:2067 semapv:UnspecifiedMatching DOID:0112250 Gaucher's disease type IIIC oboInOwl:hasDbXref OMIM:231005 semapv:UnspecifiedMatching @@ -11831,32 +11857,32 @@ DOID:0112250 Gaucher's disease type IIIC oboInOwl:hasDbXref ORDO:2072 semapv:Uns DOID:0112251 Ghosal hematodiaphyseal syndrome oboInOwl:hasDbXref GARD:10297 semapv:UnspecifiedMatching DOID:0112251 Ghosal hematodiaphyseal syndrome oboInOwl:hasDbXref OMIM:231095 semapv:UnspecifiedMatching DOID:0112251 Ghosal hematodiaphyseal syndrome oboInOwl:hasDbXref ORDO:1802 semapv:UnspecifiedMatching -DOID:0112252 glutathione synthetase deficiency of erythrocytes oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching DOID:0112252 glutathione synthetase deficiency of erythrocytes oboInOwl:hasDbXref ORDO:289849 semapv:UnspecifiedMatching +DOID:0112252 glutathione synthetase deficiency of erythrocytes oboInOwl:hasDbXref OMIM:231900 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref GARD:13587 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref MESH:C567115 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref OMIM:233650 semapv:UnspecifiedMatching DOID:0112253 combined cellular and humoral immune defects with granulomas oboInOwl:hasDbXref ORDO:157949 semapv:UnspecifiedMatching -DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref ORDO:79124 semapv:UnspecifiedMatching -DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref OMIM:235550 semapv:UnspecifiedMatching -DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref MESH:C537257 semapv:UnspecifiedMatching DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref GARD:10083 semapv:UnspecifiedMatching +DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref MESH:C537257 semapv:UnspecifiedMatching +DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref OMIM:235550 semapv:UnspecifiedMatching +DOID:0112254 hepatic venoocclusive disease with immunodeficiency oboInOwl:hasDbXref ORDO:79124 semapv:UnspecifiedMatching DOID:0112255 homocystinuria-megaloblastic anemia cblE type oboInOwl:hasDbXref OMIM:236270 semapv:UnspecifiedMatching DOID:0112255 homocystinuria-megaloblastic anemia cblE type oboInOwl:hasDbXref ORDO:2169 semapv:UnspecifiedMatching +DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref ORDO:2170 semapv:UnspecifiedMatching DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref GARD:3577 semapv:UnspecifiedMatching DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref OMIM:250940 semapv:UnspecifiedMatching -DOID:0112256 homocystinuria-megaloblastic anemia cblG type oboInOwl:hasDbXref ORDO:2170 semapv:UnspecifiedMatching -DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref GARD:10039 semapv:UnspecifiedMatching -DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref MESH:C536081 semapv:UnspecifiedMatching DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref OMIM:236800 semapv:UnspecifiedMatching DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref ORDO:79155 semapv:UnspecifiedMatching +DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref GARD:10039 semapv:UnspecifiedMatching +DOID:0112257 hydroxykynureninuria oboInOwl:hasDbXref MESH:C536081 semapv:UnspecifiedMatching DOID:0112258 N-acetylglutamate synthase deficiency oboInOwl:hasDbXref GARD:7158 semapv:UnspecifiedMatching DOID:0112258 N-acetylglutamate synthase deficiency oboInOwl:hasDbXref OMIM:237310 semapv:UnspecifiedMatching DOID:0112258 N-acetylglutamate synthase deficiency oboInOwl:hasDbXref ORDO:927 semapv:UnspecifiedMatching -DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref ORDO:755 semapv:UnspecifiedMatching DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref MESH:C562567 semapv:UnspecifiedMatching -DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref MEDDRA:10024406 semapv:UnspecifiedMatching +DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref ORDO:755 semapv:UnspecifiedMatching DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref GARD:3244 semapv:UnspecifiedMatching +DOID:0112259 Leydig cell hypoplasia oboInOwl:hasDbXref MEDDRA:10024406 semapv:UnspecifiedMatching DOID:0112260 Leydig cell hypoplasia type I oboInOwl:hasDbXref OMIM:238320 semapv:UnspecifiedMatching DOID:0112260 Leydig cell hypoplasia type I oboInOwl:hasDbXref ORDO:96265 semapv:UnspecifiedMatching DOID:0112261 Leydig cell hypoplasia type II oboInOwl:hasDbXref ORDO:96266 semapv:UnspecifiedMatching @@ -11864,14 +11890,14 @@ DOID:0112262 leucine-sensitive hypoglycemia of infancy oboInOwl:hasDbXref GARD:9 DOID:0112262 leucine-sensitive hypoglycemia of infancy oboInOwl:hasDbXref OMIM:240800 semapv:UnspecifiedMatching DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy oboInOwl:hasDbXref OMIM:240900 semapv:UnspecifiedMatching DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy oboInOwl:hasDbXref ORDO:293964 semapv:UnspecifiedMatching +DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ORDO:3464 semapv:UnspecifiedMatching +DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 semapv:UnspecifiedMatching DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref GARD:5592 semapv:UnspecifiedMatching DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref MESH:C536742 semapv:UnspecifiedMatching -DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref OMIM:241080 semapv:UnspecifiedMatching -DOID:0112264 Woodhouse-Sakati syndrome oboInOwl:hasDbXref ORDO:3464 semapv:UnspecifiedMatching -DOID:0112265 iminoglycinuria oboInOwl:hasDbXref ORDO:42062 semapv:UnspecifiedMatching -DOID:0112265 iminoglycinuria oboInOwl:hasDbXref OMIM:242600 semapv:UnspecifiedMatching DOID:0112265 iminoglycinuria oboInOwl:hasDbXref GARD:8424 semapv:UnspecifiedMatching DOID:0112265 iminoglycinuria oboInOwl:hasDbXref MESH:C536285 semapv:UnspecifiedMatching +DOID:0112265 iminoglycinuria oboInOwl:hasDbXref OMIM:242600 semapv:UnspecifiedMatching +DOID:0112265 iminoglycinuria oboInOwl:hasDbXref ORDO:42062 semapv:UnspecifiedMatching DOID:0112266 nephrotic syndrome type 23 oboInOwl:hasDbXref OMIM:619201 semapv:UnspecifiedMatching DOID:0112267 nephrotic syndrome type 21 oboInOwl:hasDbXref OMIM:618594 semapv:UnspecifiedMatching DOID:0112268 nephrotic syndrome type 22 oboInOwl:hasDbXref OMIM:619155 semapv:UnspecifiedMatching @@ -11895,63 +11921,63 @@ DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref ORDO DOID:0112282 spondyloepiphyseal dysplasia Kimberley type oboInOwl:hasDbXref UMLS_CUI:C1842149 semapv:UnspecifiedMatching DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type oboInOwl:hasDbXref OMIM:618392 semapv:UnspecifiedMatching DOID:0112284 spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref ORDO:93284 semapv:UnspecifiedMatching -DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref GARD:10624 semapv:UnspecifiedMatching DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:184100 semapv:UnspecifiedMatching +DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref GARD:10624 semapv:UnspecifiedMatching DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy oboInOwl:hasDbXref MESH:C566660 semapv:UnspecifiedMatching DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy oboInOwl:hasDbXref OMIM:183850 semapv:UnspecifiedMatching -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref UMLS_CUI:C2673649 semapv:UnspecifiedMatching -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref ORDO:163654 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref GARD:10629 semapv:UnspecifiedMatching DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref MESH:C567128 semapv:UnspecifiedMatching +DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching +DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref ORDO:163654 semapv:UnspecifiedMatching +DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech oboInOwl:hasDbXref UMLS_CUI:C2673649 semapv:UnspecifiedMatching DOID:0112288 spondyloepiphyseal dysplasia Nishimura type oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies oboInOwl:hasDbXref MESH:C564003 semapv:UnspecifiedMatching DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies oboInOwl:hasDbXref OMIM:600093 semapv:UnspecifiedMatching DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis oboInOwl:hasDbXref OMIM:619260 semapv:UnspecifiedMatching DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type oboInOwl:hasDbXref OMIM:609223 semapv:UnspecifiedMatching -DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref OMIM:271620 semapv:UnspecifiedMatching -DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref MESH:C564796 semapv:UnspecifiedMatching -DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref ORDO:163665 semapv:UnspecifiedMatching DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref UMLS_CUI:C1849053 semapv:UnspecifiedMatching +DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref ORDO:163665 semapv:UnspecifiedMatching +DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref MESH:C564796 semapv:UnspecifiedMatching +DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability oboInOwl:hasDbXref OMIM:271620 semapv:UnspecifiedMatching DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda oboInOwl:hasDbXref OMIM:271600 semapv:UnspecifiedMatching DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability oboInOwl:hasDbXref OMIM:602611 semapv:UnspecifiedMatching DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability oboInOwl:hasDbXref ORDO:163649 semapv:UnspecifiedMatching DOID:0112295 spondylometaphyseal dysplasia oboInOwl:hasDbXref ORDO:254 semapv:UnspecifiedMatching -DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref UMLS_CUI:C1866688 semapv:UnspecifiedMatching -DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref ORDO:93316 semapv:UnspecifiedMatching -DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref MESH:C535794 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref GARD:504 semapv:UnspecifiedMatching +DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref MESH:C535794 semapv:UnspecifiedMatching DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref OMIM:184253 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref GARD:4991 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref MESH:C535793 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref OMIM:184255 semapv:UnspecifiedMatching -DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref ORDO:93315 semapv:UnspecifiedMatching +DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref ORDO:93316 semapv:UnspecifiedMatching +DOID:0112296 spondylometaphyseal dysplasia Algerian type oboInOwl:hasDbXref UMLS_CUI:C1866688 semapv:UnspecifiedMatching DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref UMLS_CUI:C0432221 semapv:UnspecifiedMatching +DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref ORDO:93315 semapv:UnspecifiedMatching +DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref OMIM:184255 semapv:UnspecifiedMatching +DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref MESH:C535793 semapv:UnspecifiedMatching +DOID:0112297 spondylometaphyseal dysplasia corner fracture type oboInOwl:hasDbXref GARD:4991 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref GARD:4993 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref MESH:C535798 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref ORDO:93317 semapv:UnspecifiedMatching DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type oboInOwl:hasDbXref UMLS_CUI:C1855229 semapv:UnspecifiedMatching -DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ORDO:168549 semapv:UnspecifiedMatching -DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1865695 semapv:UnspecifiedMatching -DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref GARD:8720 semapv:UnspecifiedMatching +DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref MESH:C535795 semapv:UnspecifiedMatching DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref OMIM:602271 semapv:UnspecifiedMatching -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref GARD:10647 semapv:UnspecifiedMatching -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref MESH:C563825 semapv:UnspecifiedMatching +DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref ORDO:168549 semapv:UnspecifiedMatching +DOID:0112299 axial spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C1865695 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref OMIM:608940 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref ORDO:85167 semapv:UnspecifiedMatching +DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref GARD:10647 semapv:UnspecifiedMatching +DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref MESH:C563825 semapv:UnspecifiedMatching DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy oboInOwl:hasDbXref UMLS_CUI:C1837073 semapv:UnspecifiedMatching +DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref MESH:C563803 semapv:UnspecifiedMatching +DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref UMLS_CUI:C1836862 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref ORDO:168555 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref GARD:458 semapv:UnspecifiedMatching -DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref MESH:C563803 semapv:UnspecifiedMatching DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref OMIM:609052 semapv:UnspecifiedMatching -DOID:0112301 spondylometaphyseal dysplasia type A4 oboInOwl:hasDbXref UMLS_CUI:C1836862 semapv:UnspecifiedMatching -DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref OMIM:611702 semapv:UnspecifiedMatching DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref GARD:4992 semapv:UnspecifiedMatching +DOID:0112302 spondylometaphyseal dysplasia East African type oboInOwl:hasDbXref OMIM:611702 semapv:UnspecifiedMatching DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy oboInOwl:hasDbXref OMIM:618961 semapv:UnspecifiedMatching -DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type oboInOwl:hasDbXref ORDO:401979 semapv:UnspecifiedMatching DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type oboInOwl:hasDbXref OMIM:613320 semapv:UnspecifiedMatching +DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type oboInOwl:hasDbXref ORDO:401979 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref GARD:8719 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref MESH:C535791 semapv:UnspecifiedMatching DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref OMIM:607543 semapv:UnspecifiedMatching @@ -11959,31 +11985,31 @@ DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmor DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism oboInOwl:hasDbXref UMLS_CUI:C1843706 semapv:UnspecifiedMatching DOID:0112306 Mahvash Disease oboInOwl:hasDbXref GARD:10460 semapv:UnspecifiedMatching DOID:0112306 Mahvash Disease oboInOwl:hasDbXref ORDO:438274 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia oboInOwl:hasDbXref GARD:158 semapv:UnspecifiedMatching +DOID:0112307 sarcosinemia oboInOwl:hasDbXref UMLS_CUI:C0268563 semapv:UnspecifiedMatching +DOID:0112307 sarcosinemia oboInOwl:hasDbXref ORDO:3129 semapv:UnspecifiedMatching +DOID:0112307 sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref ICD10CM:E72.59 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref MEDDRA:10059299 semapv:UnspecifiedMatching +DOID:0112307 sarcosinemia oboInOwl:hasDbXref GARD:158 semapv:UnspecifiedMatching DOID:0112307 sarcosinemia oboInOwl:hasDbXref MESH:C537236 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia oboInOwl:hasDbXref OMIM:268900 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia oboInOwl:hasDbXref ORDO:3129 semapv:UnspecifiedMatching -DOID:0112307 sarcosinemia oboInOwl:hasDbXref UMLS_CUI:C0268563 semapv:UnspecifiedMatching -DOID:0112308 central precocious puberty oboInOwl:hasDbXref UMLS_CUI:C0342543 semapv:UnspecifiedMatching -DOID:0112308 central precocious puberty oboInOwl:hasDbXref ORDO:759 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref ICD10CM:E22.8 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref MESH:D011629 semapv:UnspecifiedMatching DOID:0112308 central precocious puberty oboInOwl:hasDbXref NCI:C113217 semapv:UnspecifiedMatching +DOID:0112308 central precocious puberty oboInOwl:hasDbXref ORDO:759 semapv:UnspecifiedMatching +DOID:0112308 central precocious puberty oboInOwl:hasDbXref UMLS_CUI:C0342543 semapv:UnspecifiedMatching DOID:0112309 central precocious puberty 2 oboInOwl:hasDbXref OMIM:615346 semapv:UnspecifiedMatching DOID:0112310 central precocious puberty 1 oboInOwl:hasDbXref OMIM:176400 semapv:UnspecifiedMatching DOID:0112311 male infertility due to acephalic spermatozoa oboInOwl:hasDbXref ORDO:529970 semapv:UnspecifiedMatching -DOID:0112312 male infertility due to globozoospermia oboInOwl:hasDbXref GARD:12502 semapv:UnspecifiedMatching DOID:0112312 male infertility due to globozoospermia oboInOwl:hasDbXref ORDO:171709 semapv:UnspecifiedMatching +DOID:0112312 male infertility due to globozoospermia oboInOwl:hasDbXref GARD:12502 semapv:UnspecifiedMatching DOID:0112313 brain small vessel disease oboInOwl:hasDbXref OMIMPS:175780 semapv:UnspecifiedMatching DOID:0112314 brain small vessel disease 2 oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching DOID:0112315 brain small vessel disease 3 oboInOwl:hasDbXref OMIM:618360 semapv:UnspecifiedMatching DOID:0112316 methemoglobinemia and ambiguous genitalia oboInOwl:hasDbXref OMIM:250790 semapv:UnspecifiedMatching DOID:0112317 Schindler disease oboInOwl:hasDbXref ORDO:3137 semapv:UnspecifiedMatching -DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref ORDO:79279 semapv:UnspecifiedMatching DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref GARD:116 semapv:UnspecifiedMatching DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching +DOID:0112318 Schindler disease type 1 oboInOwl:hasDbXref ORDO:79279 semapv:UnspecifiedMatching DOID:0112319 Kanzaki disease oboInOwl:hasDbXref GARD:9161 semapv:UnspecifiedMatching DOID:0112319 Kanzaki disease oboInOwl:hasDbXref OMIM:609242 semapv:UnspecifiedMatching DOID:0112319 Kanzaki disease oboInOwl:hasDbXref ORDO:79280 semapv:UnspecifiedMatching @@ -12019,15 +12045,15 @@ DOID:0112340 craniotubular dysplasia Ikegawa type oboInOwl:hasDbXref OMIM:619727 DOID:0112341 hereditary spastic paraplegia 80 oboInOwl:hasDbXref OMIM:618418 semapv:UnspecifiedMatching DOID:0112342 hereditary spastic paraplegia 86 oboInOwl:hasDbXref OMIM:619735 semapv:UnspecifiedMatching DOID:0112343 hereditary spastic paraplegia 82 oboInOwl:hasDbXref OMIM:618770 semapv:UnspecifiedMatching -DOID:0112344 hereditary spastic paraplegia 79 oboInOwl:hasDbXref OMIM:615491 semapv:UnspecifiedMatching DOID:0112344 hereditary spastic paraplegia 79 oboInOwl:hasDbXref ORDO:352654 semapv:UnspecifiedMatching +DOID:0112344 hereditary spastic paraplegia 79 oboInOwl:hasDbXref OMIM:615491 semapv:UnspecifiedMatching DOID:0112345 hereditary spastic paraplegia 85 oboInOwl:hasDbXref OMIM:619686 semapv:UnspecifiedMatching DOID:0112346 hereditary spastic paraplegia 83 oboInOwl:hasDbXref OMIM:619027 semapv:UnspecifiedMatching DOID:0112347 hereditary spastic paraplegia 84 oboInOwl:hasDbXref OMIM:619621 semapv:UnspecifiedMatching DOID:0112348 hereditary spastic paraplegia 78 oboInOwl:hasDbXref OMIM:617225 semapv:UnspecifiedMatching DOID:0112348 hereditary spastic paraplegia 78 oboInOwl:hasDbXref ORDO:513436 semapv:UnspecifiedMatching -DOID:0112349 hereditary spastic paraplegia 81 oboInOwl:hasDbXref ORDO:506353 semapv:UnspecifiedMatching DOID:0112349 hereditary spastic paraplegia 81 oboInOwl:hasDbXref OMIM:618768 semapv:UnspecifiedMatching +DOID:0112349 hereditary spastic paraplegia 81 oboInOwl:hasDbXref ORDO:506353 semapv:UnspecifiedMatching DOID:0112350 spermatogenic failure 61 oboInOwl:hasDbXref OMIM:619672 semapv:UnspecifiedMatching DOID:0112351 spermatogenic failure 62 oboInOwl:hasDbXref OMIM:619673 semapv:UnspecifiedMatching DOID:0112352 spermatogenic failure 58 oboInOwl:hasDbXref OMIM:619585 semapv:UnspecifiedMatching @@ -12040,8 +12066,8 @@ DOID:0112358 short stature, facial dysmorphism, and skeletal anomalies with or w DOID:0112359 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay oboInOwl:hasDbXref OMIM:617641 semapv:UnspecifiedMatching DOID:0112360 spondylocostal dysostosis 6 oboInOwl:hasDbXref OMIM:616566 semapv:UnspecifiedMatching DOID:0112361 spondylocostal dysostosis 3 oboInOwl:hasDbXref OMIM:609813 semapv:UnspecifiedMatching -DOID:0112362 spondylocostal dysostosis 2 oboInOwl:hasDbXref OMIM:608681 semapv:UnspecifiedMatching DOID:0112362 spondylocostal dysostosis 2 oboInOwl:hasDbXref GARD:6798 semapv:UnspecifiedMatching +DOID:0112362 spondylocostal dysostosis 2 oboInOwl:hasDbXref OMIM:608681 semapv:UnspecifiedMatching DOID:0112363 spondylocostal dysostosis 5 oboInOwl:hasDbXref OMIM:122600 semapv:UnspecifiedMatching DOID:0112364 spondylocostal dysostosis 4 oboInOwl:hasDbXref OMIM:613686 semapv:UnspecifiedMatching DOID:0112365 spondylocostal dysostosis 1 oboInOwl:hasDbXref OMIM:277300 semapv:UnspecifiedMatching @@ -12064,61 +12090,61 @@ DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 oboInOwl:hasDbXref O DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 oboInOwl:hasDbXref ORDO:445110 semapv:UnspecifiedMatching DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 oboInOwl:hasDbXref OMIM:618135 semapv:UnspecifiedMatching DOID:0112383 KINSSHIP syndrome oboInOwl:hasDbXref OMIM:619297 semapv:UnspecifiedMatching -DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD10CM:A00-A09 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD9CM:001-009.99 semapv:UnspecifiedMatching +DOID:100 intestinal infectious disease oboInOwl:hasDbXref ICD10CM:A00-A09 semapv:UnspecifiedMatching DOID:100 intestinal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0178238 semapv:UnspecifiedMatching -DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref ICD10CM:H90.5 semapv:UnspecifiedMatching -DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref ICD9CM:389.1 semapv:UnspecifiedMatching -DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref MESH:D006319 semapv:UnspecifiedMatching +DOID:10003 sensorineural hearing loss skos:exactMatch MESH:D006319 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref NCI:C26739 semapv:UnspecifiedMatching DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref UMLS_CUI:C0018784 semapv:UnspecifiedMatching -DOID:10003 sensorineural hearing loss skos:exactMatch MESH:D006319 semapv:UnspecifiedMatching -DOID:10011 thyroid lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336753 semapv:UnspecifiedMatching +DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref ICD9CM:389.1 semapv:UnspecifiedMatching +DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref ICD10CM:H90.5 semapv:UnspecifiedMatching +DOID:10003 sensorineural hearing loss oboInOwl:hasDbXref MESH:D006319 semapv:UnspecifiedMatching DOID:10011 thyroid lymphoma oboInOwl:hasDbXref NCI:C5265 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ORDO:247709 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS_CUI:C0025269 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching +DOID:10011 thyroid lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336753 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD10CM:E31.23 semapv:UnspecifiedMatching -DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MESH:D018814 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ICD9CM:258.03 semapv:UnspecifiedMatching +DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref MESH:D018814 semapv:UnspecifiedMatching DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref NCI:C3227 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref GARD:3829 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10CM:E31.21 semapv:UnspecifiedMatching +DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref OMIM:162300 semapv:UnspecifiedMatching +DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref ORDO:247709 semapv:UnspecifiedMatching +DOID:10016 multiple endocrine neoplasia type 2B oboInOwl:hasDbXref UMLS_CUI:C0025269 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS_CUI:C0025267 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ORDO:652 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref NCI:C3225 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD9CM:258.01 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10CM:E31.21 semapv:UnspecifiedMatching +DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref GARD:3829 semapv:UnspecifiedMatching DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref NCI:C3225 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ORDO:652 semapv:UnspecifiedMatching -DOID:10017 multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS_CUI:C0025267 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref MESH:D004716 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref NCI:C26764 semapv:UnspecifiedMatching DOID:1002 endometritis oboInOwl:hasDbXref UMLS_CUI:C0014179 semapv:UnspecifiedMatching -DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref UMLS_CUI:C0153454 semapv:UnspecifiedMatching -DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref NCI:C3536 semapv:UnspecifiedMatching DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref ICD10CM:C24.1 semapv:UnspecifiedMatching DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref ICD9CM:156.2 semapv:UnspecifiedMatching -DOID:10021 duodenum cancer oboInOwl:hasDbXref ICD10CM:C17.0 semapv:UnspecifiedMatching -DOID:10021 duodenum cancer oboInOwl:hasDbXref ICD9CM:152.0 semapv:UnspecifiedMatching -DOID:10021 duodenum cancer oboInOwl:hasDbXref MESH:D004379 semapv:UnspecifiedMatching -DOID:10021 duodenum cancer oboInOwl:hasDbXref NCI:C4803 semapv:UnspecifiedMatching +DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref NCI:C3536 semapv:UnspecifiedMatching +DOID:10020 ampulla of Vater cancer oboInOwl:hasDbXref UMLS_CUI:C0153454 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref NCI:C9328 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref UMLS_CUI:C0153426 semapv:UnspecifiedMatching +DOID:10021 duodenum cancer oboInOwl:hasDbXref NCI:C4803 semapv:UnspecifiedMatching DOID:10021 duodenum cancer oboInOwl:hasDbXref UMLS_CUI:C0541912 semapv:UnspecifiedMatching +DOID:10021 duodenum cancer oboInOwl:hasDbXref ICD9CM:152.0 semapv:UnspecifiedMatching +DOID:10021 duodenum cancer oboInOwl:hasDbXref ICD10CM:C17.0 semapv:UnspecifiedMatching +DOID:10021 duodenum cancer oboInOwl:hasDbXref MESH:D004379 semapv:UnspecifiedMatching DOID:10022 ampulla of Vater benign neoplasm oboInOwl:hasDbXref NCI:C4443 semapv:UnspecifiedMatching DOID:10022 ampulla of Vater benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345916 semapv:UnspecifiedMatching +DOID:10024 migraine with aura oboInOwl:hasDbXref ICD10CM:G43.1 semapv:UnspecifiedMatching +DOID:10024 migraine with aura oboInOwl:hasDbXref ICD9CM:346.0 semapv:UnspecifiedMatching +DOID:10024 migraine with aura oboInOwl:hasDbXref MESH:D020325 semapv:UnspecifiedMatching +DOID:10024 migraine with aura oboInOwl:hasDbXref NCI:C117005 semapv:UnspecifiedMatching +DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609179 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609670 semapv:UnspecifiedMatching DOID:10024 migraine with aura oboInOwl:hasDbXref UMLS_CUI:C0154723 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref OMIM:609179 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref NCI:C117005 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref MESH:D020325 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref ICD9CM:346.0 semapv:UnspecifiedMatching -DOID:10024 migraine with aura oboInOwl:hasDbXref ICD10CM:G43.1 semapv:UnspecifiedMatching -DOID:10027 tabes dorsalis oboInOwl:hasDbXref GARD:8730 semapv:UnspecifiedMatching -DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD10CM:A52.11 semapv:UnspecifiedMatching -DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD9CM:094.0 semapv:UnspecifiedMatching +DOID:10027 tabes dorsalis oboInOwl:hasDbXref UMLS_CUI:C0039223 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref MESH:D013606 semapv:UnspecifiedMatching DOID:10027 tabes dorsalis oboInOwl:hasDbXref NCI:C35057 semapv:UnspecifiedMatching -DOID:10027 tabes dorsalis oboInOwl:hasDbXref UMLS_CUI:C0039223 semapv:UnspecifiedMatching +DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD10CM:A52.11 semapv:UnspecifiedMatching +DOID:10027 tabes dorsalis oboInOwl:hasDbXref GARD:8730 semapv:UnspecifiedMatching +DOID:10027 tabes dorsalis oboInOwl:hasDbXref ICD9CM:094.0 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref ICD10CM:N73.9 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref ICD9CM:614.9 semapv:UnspecifiedMatching DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref MESH:D000292 semapv:UnspecifiedMatching @@ -12126,23 +12152,23 @@ DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref NCI:C3889 semapv:Unspec DOID:1003 pelvic inflammatory disease oboInOwl:hasDbXref UMLS_CUI:C0242172 semapv:UnspecifiedMatching DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref UMLS_CUI:C1370824 semapv:UnspecifiedMatching DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref NCI:C34571 semapv:UnspecifiedMatching -DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref ICD9CM:518.1 semapv:UnspecifiedMatching DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref ICD10CM:J98.2 semapv:UnspecifiedMatching +DOID:10030 pulmonary interstitial emphysema oboInOwl:hasDbXref ICD9CM:518.1 semapv:UnspecifiedMatching DOID:10031 compensatory emphysema oboInOwl:hasDbXref ICD10CM:J98.3 semapv:UnspecifiedMatching DOID:10031 compensatory emphysema oboInOwl:hasDbXref ICD9CM:518.2 semapv:UnspecifiedMatching DOID:10031 compensatory emphysema oboInOwl:hasDbXref UMLS_CUI:C0155918 semapv:UnspecifiedMatching -DOID:10032 hyperlucent lung oboInOwl:hasDbXref MESH:D019568 semapv:UnspecifiedMatching DOID:10032 hyperlucent lung oboInOwl:hasDbXref UMLS_CUI:C0524799 semapv:UnspecifiedMatching -DOID:10033 cycloplegia oboInOwl:hasDbXref ICD10CM:H52.52 semapv:UnspecifiedMatching -DOID:10033 cycloplegia oboInOwl:hasDbXref ICD9CM:367.51 semapv:UnspecifiedMatching +DOID:10032 hyperlucent lung oboInOwl:hasDbXref MESH:D019568 semapv:UnspecifiedMatching DOID:10033 cycloplegia oboInOwl:hasDbXref UMLS_CUI:C0235238 semapv:UnspecifiedMatching +DOID:10033 cycloplegia oboInOwl:hasDbXref ICD9CM:367.51 semapv:UnspecifiedMatching +DOID:10033 cycloplegia oboInOwl:hasDbXref ICD10CM:H52.52 semapv:UnspecifiedMatching DOID:10034 eye accommodation disease oboInOwl:hasDbXref ICD10CM:H52.5 semapv:UnspecifiedMatching DOID:10034 eye accommodation disease oboInOwl:hasDbXref ICD9CM:367.5 semapv:UnspecifiedMatching DOID:10034 eye accommodation disease oboInOwl:hasDbXref UMLS_CUI:C0152198 semapv:UnspecifiedMatching -DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref UMLS_CUI:C0153167 semapv:UnspecifiedMatching -DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref ICD10CM:A52.2 semapv:UnspecifiedMatching DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref ICD9CM:094.3 semapv:UnspecifiedMatching +DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching +DOID:10035 asymptomatic neurosyphilis oboInOwl:hasDbXref UMLS_CUI:C0153167 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD10CM:A50.40 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD10CM:A50.5 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD9CM:090.4 semapv:UnspecifiedMatching @@ -12150,12 +12176,12 @@ DOID:10039 late congenital syphilis oboInOwl:hasDbXref ICD9CM:090.5 semapv:Unspe DOID:10039 late congenital syphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref UMLS_CUI:C0153132 semapv:UnspecifiedMatching DOID:10039 late congenital syphilis oboInOwl:hasDbXref UMLS_CUI:C0153136 semapv:UnspecifiedMatching -DOID:10040 malignant eyelid melanoma oboInOwl:hasDbXref NCI:C4358 semapv:UnspecifiedMatching DOID:10040 malignant eyelid melanoma oboInOwl:hasDbXref UMLS_CUI:C0339116 semapv:UnspecifiedMatching -DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref UMLS_CUI:C0205747 semapv:UnspecifiedMatching -DOID:10041 dysplastic nevus syndrome skos:exactMatch MESH:D004416 semapv:UnspecifiedMatching +DOID:10040 malignant eyelid melanoma oboInOwl:hasDbXref NCI:C4358 semapv:UnspecifiedMatching DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref GARD:9281 semapv:UnspecifiedMatching DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref MESH:D004416 semapv:UnspecifiedMatching +DOID:10041 dysplastic nevus syndrome oboInOwl:hasDbXref UMLS_CUI:C0205747 semapv:UnspecifiedMatching +DOID:10041 dysplastic nevus syndrome skos:exactMatch MESH:D004416 semapv:UnspecifiedMatching DOID:10044 balloon cell malignant melanoma oboInOwl:hasDbXref NCI:C4227 semapv:UnspecifiedMatching DOID:10044 balloon cell malignant melanoma oboInOwl:hasDbXref UMLS_CUI:C0334426 semapv:UnspecifiedMatching DOID:10047 nodular malignant melanoma oboInOwl:hasDbXref GARD:9961 semapv:UnspecifiedMatching @@ -12165,48 +12191,48 @@ DOID:1005 endometrial disease oboInOwl:hasDbXref NCI:C3504 semapv:UnspecifiedMat DOID:1005 endometrial disease oboInOwl:hasDbXref UMLS_CUI:C0151622 semapv:UnspecifiedMatching DOID:10054 skin amelanotic melanoma oboInOwl:hasDbXref NCI:C4633 semapv:UnspecifiedMatching DOID:10054 skin amelanotic melanoma oboInOwl:hasDbXref UMLS_CUI:C0349515 semapv:UnspecifiedMatching -DOID:10069 subglottis benign neoplasm oboInOwl:hasDbXref NCI:C4426 semapv:UnspecifiedMatching DOID:10069 subglottis benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345746 semapv:UnspecifiedMatching +DOID:10069 subglottis benign neoplasm oboInOwl:hasDbXref NCI:C4426 semapv:UnspecifiedMatching DOID:10070 larynx leiomyoma oboInOwl:hasDbXref NCI:C6027 semapv:UnspecifiedMatching DOID:10070 larynx leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334370 semapv:UnspecifiedMatching -DOID:10071 larynx squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C0240164 semapv:UnspecifiedMatching DOID:10071 larynx squamous papilloma oboInOwl:hasDbXref NCI:C7742 semapv:UnspecifiedMatching +DOID:10071 larynx squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C0240164 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref GARD:8731 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref ICD9CM:094.2 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref MESH:C536775 semapv:UnspecifiedMatching DOID:10073 syphilitic meningitis oboInOwl:hasDbXref UMLS_CUI:C0153166 semapv:UnspecifiedMatching +DOID:10074 hymenolepiasis oboInOwl:hasDbXref UMLS_CUI:C0020413 semapv:UnspecifiedMatching +DOID:10074 hymenolepiasis oboInOwl:hasDbXref NCI:C84768 semapv:UnspecifiedMatching +DOID:10074 hymenolepiasis oboInOwl:hasDbXref MESH:D006925 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref GARD:2787 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref ICD10CM:B71.0 semapv:UnspecifiedMatching DOID:10074 hymenolepiasis oboInOwl:hasDbXref ICD9CM:123.6 semapv:UnspecifiedMatching -DOID:10074 hymenolepiasis oboInOwl:hasDbXref MESH:D006925 semapv:UnspecifiedMatching -DOID:10074 hymenolepiasis oboInOwl:hasDbXref NCI:C84768 semapv:UnspecifiedMatching -DOID:10074 hymenolepiasis oboInOwl:hasDbXref UMLS_CUI:C0020413 semapv:UnspecifiedMatching -DOID:10075 diphyllobothriasis oboInOwl:hasDbXref ICD10CM:B70.0 semapv:UnspecifiedMatching -DOID:10075 diphyllobothriasis skos:exactMatch MESH:D004169 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref UMLS_CUI:C0012561 semapv:UnspecifiedMatching +DOID:10075 diphyllobothriasis skos:exactMatch MESH:D004169 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref NCI:C128391 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref GARD:942 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref ICD9CM:123.4 semapv:UnspecifiedMatching +DOID:10075 diphyllobothriasis oboInOwl:hasDbXref ICD10CM:B70.0 semapv:UnspecifiedMatching DOID:10075 diphyllobothriasis oboInOwl:hasDbXref MESH:D004169 semapv:UnspecifiedMatching -DOID:10079 cysticercosis oboInOwl:hasDbXref NCI:C34520 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref GARD:8194 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref ICD10CM:B69 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref ICD9CM:123.1 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref MESH:D003551 semapv:UnspecifiedMatching +DOID:10079 cysticercosis oboInOwl:hasDbXref NCI:C34520 semapv:UnspecifiedMatching DOID:10079 cysticercosis oboInOwl:hasDbXref UMLS_CUI:C0010678 semapv:UnspecifiedMatching +DOID:10080 sparganosis skos:exactMatch MESH:D013031 semapv:UnspecifiedMatching +DOID:10080 sparganosis oboInOwl:hasDbXref UMLS_CUI:C0037753 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref NCI:C35030 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref MESH:D013031 semapv:UnspecifiedMatching -DOID:10080 sparganosis oboInOwl:hasDbXref UMLS_CUI:C0037753 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref ICD10CM:B70.1 semapv:UnspecifiedMatching DOID:10080 sparganosis oboInOwl:hasDbXref ICD9CM:123.5 semapv:UnspecifiedMatching -DOID:10080 sparganosis skos:exactMatch MESH:D013031 semapv:UnspecifiedMatching -DOID:10081 syphilitic encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153168 semapv:UnspecifiedMatching DOID:10081 syphilitic encephalitis oboInOwl:hasDbXref ICD9CM:094.81 semapv:UnspecifiedMatching +DOID:10081 syphilitic encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153168 semapv:UnspecifiedMatching DOID:10087 gastric leiomyoma oboInOwl:hasDbXref NCI:C3876 semapv:UnspecifiedMatching DOID:10087 gastric leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0238440 semapv:UnspecifiedMatching -DOID:10095 intracranial abscess oboInOwl:hasDbXref ICD9CM:324.0 semapv:UnspecifiedMatching DOID:10095 intracranial abscess oboInOwl:hasDbXref NCI:C34734 semapv:UnspecifiedMatching DOID:10095 intracranial abscess oboInOwl:hasDbXref UMLS_CUI:C0021874 semapv:UnspecifiedMatching +DOID:10095 intracranial abscess oboInOwl:hasDbXref ICD9CM:324.0 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref ICD10CM:B56 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref ICD9CM:086.5 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref KEGG:05143 semapv:UnspecifiedMatching @@ -12214,148 +12240,148 @@ DOID:10112 sleeping sickness oboInOwl:hasDbXref MESH:D014353 semapv:UnspecifiedM DOID:10112 sleeping sickness oboInOwl:hasDbXref NCI:C84541 semapv:UnspecifiedMatching DOID:10112 sleeping sickness oboInOwl:hasDbXref UMLS_CUI:C0041228 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref UMLS_CUI:C0041227 semapv:UnspecifiedMatching -DOID:10113 trypanosomiasis oboInOwl:hasDbXref MEDDRA:10044707 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref MESH:D014352 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref ICD10CM:B57.2 semapv:UnspecifiedMatching DOID:10113 trypanosomiasis oboInOwl:hasDbXref ICD9CM:086 semapv:UnspecifiedMatching +DOID:10113 trypanosomiasis oboInOwl:hasDbXref MEDDRA:10044707 semapv:UnspecifiedMatching DOID:10120 obsolete eyelid degenerative disease oboInOwl:hasDbXref ICD9CM:374.50 semapv:UnspecifiedMatching DOID:10120 obsolete eyelid degenerative disease oboInOwl:hasDbXref UMLS_CUI:C0155209 semapv:UnspecifiedMatching -DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155211 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref ICD10CM:H02.71 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref ICD9CM:374.52 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref MESH:C562400 semapv:UnspecifiedMatching DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref OMIM:145100 semapv:UnspecifiedMatching +DOID:10122 hyperpigmentation of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155211 semapv:UnspecifiedMatching DOID:10123 pigmentation disease oboInOwl:hasDbXref ICD9CM:709.09 semapv:UnspecifiedMatching DOID:10123 pigmentation disease oboInOwl:hasDbXref UMLS_CUI:C0375489 semapv:UnspecifiedMatching -DOID:10124 corneal disease oboInOwl:hasDbXref MESH:D003316 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref UMLS_CUI:C0010034 semapv:UnspecifiedMatching -DOID:10124 corneal disease oboInOwl:hasDbXref ICD10CM:H18.9 semapv:UnspecifiedMatching -DOID:10124 corneal disease oboInOwl:hasDbXref ICD9CM:371.9 semapv:UnspecifiedMatching DOID:10124 corneal disease oboInOwl:hasDbXref NCI:C26731 semapv:UnspecifiedMatching -DOID:10125 acute hydrops keratoconus oboInOwl:hasDbXref UMLS_CUI:C0339286 semapv:UnspecifiedMatching +DOID:10124 corneal disease oboInOwl:hasDbXref ICD9CM:371.9 semapv:UnspecifiedMatching +DOID:10124 corneal disease oboInOwl:hasDbXref ICD10CM:H18.9 semapv:UnspecifiedMatching +DOID:10124 corneal disease oboInOwl:hasDbXref MESH:D003316 semapv:UnspecifiedMatching DOID:10125 acute hydrops keratoconus oboInOwl:hasDbXref ICD9CM:371.62 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref GARD:6824 semapv:UnspecifiedMatching +DOID:10125 acute hydrops keratoconus oboInOwl:hasDbXref UMLS_CUI:C0339286 semapv:UnspecifiedMatching +DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614623 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref UMLS_CUI:C0022578 semapv:UnspecifiedMatching +DOID:10126 keratoconus oboInOwl:hasDbXref ORDO:156071 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614629 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614628 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614623 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:614622 semapv:UnspecifiedMatching +DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:608932 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:609271 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref ORDO:156071 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:608586 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:148300 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref NCI:C26806 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref MESH:D007640 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref ICD9CM:371.6 semapv:UnspecifiedMatching DOID:10126 keratoconus oboInOwl:hasDbXref ICD10CM:H18.6 semapv:UnspecifiedMatching -DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:608932 semapv:UnspecifiedMatching +DOID:10126 keratoconus oboInOwl:hasDbXref GARD:6824 semapv:UnspecifiedMatching +DOID:10126 keratoconus oboInOwl:hasDbXref OMIM:608586 semapv:UnspecifiedMatching DOID:10127 cerebral artery occlusion oboInOwl:hasDbXref ICD9CM:434 semapv:UnspecifiedMatching DOID:10127 cerebral artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0028790 semapv:UnspecifiedMatching DOID:10128 venous insufficiency oboInOwl:hasDbXref UMLS_CUI:C0042485 semapv:UnspecifiedMatching -DOID:10128 venous insufficiency oboInOwl:hasDbXref NCI:C127822 semapv:UnspecifiedMatching DOID:10128 venous insufficiency oboInOwl:hasDbXref ICD9CM:459.81 semapv:UnspecifiedMatching DOID:10128 venous insufficiency oboInOwl:hasDbXref MESH:D014689 semapv:UnspecifiedMatching -DOID:10131 psychologic vaginismus oboInOwl:hasDbXref ICD10CM:F52.5 semapv:UnspecifiedMatching +DOID:10128 venous insufficiency oboInOwl:hasDbXref NCI:C127822 semapv:UnspecifiedMatching DOID:10131 psychologic vaginismus oboInOwl:hasDbXref ICD9CM:306.51 semapv:UnspecifiedMatching DOID:10131 psychologic vaginismus oboInOwl:hasDbXref NCI:C35113 semapv:UnspecifiedMatching +DOID:10131 psychologic vaginismus oboInOwl:hasDbXref ICD10CM:F52.5 semapv:UnspecifiedMatching DOID:10131 psychologic vaginismus oboInOwl:hasDbXref UMLS_CUI:C0042266 semapv:UnspecifiedMatching -DOID:10132 psychosexual disorder oboInOwl:hasDbXref ICD9CM:302.79 semapv:UnspecifiedMatching DOID:10132 psychosexual disorder oboInOwl:hasDbXref UMLS_CUI:C0033951 semapv:UnspecifiedMatching -DOID:10138 xerophthalmia oboInOwl:hasDbXref ICD9CM:375.15 semapv:UnspecifiedMatching -DOID:10138 xerophthalmia oboInOwl:hasDbXref UMLS_CUI:C0043349 semapv:UnspecifiedMatching -DOID:10138 xerophthalmia oboInOwl:hasDbXref NCI:C34503 semapv:UnspecifiedMatching +DOID:10132 psychosexual disorder oboInOwl:hasDbXref ICD9CM:302.79 semapv:UnspecifiedMatching DOID:10138 xerophthalmia oboInOwl:hasDbXref ICD10CM:E50.7 semapv:UnspecifiedMatching +DOID:10138 xerophthalmia oboInOwl:hasDbXref ICD9CM:375.15 semapv:UnspecifiedMatching DOID:10138 xerophthalmia oboInOwl:hasDbXref MESH:D014985 semapv:UnspecifiedMatching +DOID:10138 xerophthalmia oboInOwl:hasDbXref NCI:C34503 semapv:UnspecifiedMatching +DOID:10138 xerophthalmia oboInOwl:hasDbXref UMLS_CUI:C0043349 semapv:UnspecifiedMatching DOID:10139 conjunctival degeneration oboInOwl:hasDbXref ICD10CM:H11.10 semapv:UnspecifiedMatching DOID:10139 conjunctival degeneration oboInOwl:hasDbXref ICD9CM:372.50 semapv:UnspecifiedMatching DOID:10139 conjunctival degeneration oboInOwl:hasDbXref UMLS_CUI:C0155160 semapv:UnspecifiedMatching +DOID:10140 dry eye syndrome skos:exactMatch MESH:D015352 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref ICD10CM:H04.12 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref MESH:D015352 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref NCI:C34553 semapv:UnspecifiedMatching DOID:10140 dry eye syndrome oboInOwl:hasDbXref UMLS_CUI:C0013238 semapv:UnspecifiedMatching -DOID:10140 dry eye syndrome skos:exactMatch MESH:D015352 semapv:UnspecifiedMatching -DOID:10146 thymus lymphoma oboInOwl:hasDbXref NCI:C6451 semapv:UnspecifiedMatching DOID:10146 thymus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336745 semapv:UnspecifiedMatching +DOID:10146 thymus lymphoma oboInOwl:hasDbXref NCI:C6451 semapv:UnspecifiedMatching DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref ICD10CM:C40.2 semapv:UnspecifiedMatching DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref ICD9CM:170.7 semapv:UnspecifiedMatching DOID:10149 long bones of lower limb cancer oboInOwl:hasDbXref UMLS_CUI:C0153517 semapv:UnspecifiedMatching -DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref UMLS_CUI:C0153518 semapv:UnspecifiedMatching DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref ICD10CM:C40.3 semapv:UnspecifiedMatching DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref ICD9CM:170.8 semapv:UnspecifiedMatching +DOID:10151 malignant neoplasm of short bones of lower limb oboInOwl:hasDbXref UMLS_CUI:C0153518 semapv:UnspecifiedMatching DOID:10152 Meckel's diverticulum cancer oboInOwl:hasDbXref ICD9CM:152.3 semapv:UnspecifiedMatching DOID:10152 Meckel's diverticulum cancer oboInOwl:hasDbXref UMLS_CUI:C0153429 semapv:UnspecifiedMatching DOID:10153 ileum cancer oboInOwl:hasDbXref ICD10CM:C17.2 semapv:UnspecifiedMatching DOID:10153 ileum cancer oboInOwl:hasDbXref ICD9CM:152.2 semapv:UnspecifiedMatching DOID:10153 ileum cancer oboInOwl:hasDbXref UMLS_CUI:C0153428 semapv:UnspecifiedMatching -DOID:10154 small intestine cancer oboInOwl:hasDbXref ICD10CM:C17 semapv:UnspecifiedMatching +DOID:10154 small intestine cancer oboInOwl:hasDbXref UMLS_CUI:C0153425 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref ICD9CM:152.9 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref NCI:C7523 semapv:UnspecifiedMatching -DOID:10154 small intestine cancer oboInOwl:hasDbXref UMLS_CUI:C0153425 semapv:UnspecifiedMatching DOID:10154 small intestine cancer oboInOwl:hasDbXref GARD:9385 semapv:UnspecifiedMatching -DOID:10155 intestinal cancer oboInOwl:hasDbXref NCI:C4572 semapv:UnspecifiedMatching -DOID:10155 intestinal cancer oboInOwl:hasDbXref UMLS_CUI:C0346627 semapv:UnspecifiedMatching -DOID:10155 intestinal cancer oboInOwl:hasDbXref ICD9CM:159.0 semapv:UnspecifiedMatching +DOID:10154 small intestine cancer oboInOwl:hasDbXref ICD10CM:C17 semapv:UnspecifiedMatching DOID:10155 intestinal cancer oboInOwl:hasDbXref ICD10CM:C26.0 semapv:UnspecifiedMatching +DOID:10155 intestinal cancer oboInOwl:hasDbXref ICD9CM:159.0 semapv:UnspecifiedMatching DOID:10155 intestinal cancer oboInOwl:hasDbXref MESH:D007414 semapv:UnspecifiedMatching +DOID:10155 intestinal cancer oboInOwl:hasDbXref NCI:C4572 semapv:UnspecifiedMatching +DOID:10155 intestinal cancer oboInOwl:hasDbXref UMLS_CUI:C0346627 semapv:UnspecifiedMatching +DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020876 semapv:UnspecifiedMatching DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref MESH:D007078 semapv:UnspecifiedMatching DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref NCI:C3130 semapv:UnspecifiedMatching -DOID:10156 benign ileal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020876 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C35226 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C35517 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0003977 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0027543 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158451 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158450 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158449 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158442 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158449 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0158450 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C35226 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0029445 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0027543 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0003977 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C35517 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C34880 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0745048 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:733.43 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C34404 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref MESH:D010020 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:733.44 semapv:UnspecifiedMatching -DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:733.43 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:733.42 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:733.41 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD9CM:732.3 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD10CM:M87.9 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref ICD10CM:M87 semapv:UnspecifiedMatching DOID:10159 osteonecrosis oboInOwl:hasDbXref NCI:C34841 semapv:UnspecifiedMatching +DOID:10159 osteonecrosis oboInOwl:hasDbXref UMLS_CUI:C0745048 semapv:UnspecifiedMatching DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref ICD9CM:375.81 semapv:UnspecifiedMatching -DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref UMLS_CUI:C0155253 semapv:UnspecifiedMatching DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref ICD10CM:H04.81 semapv:UnspecifiedMatching +DOID:10174 lacrimal passage granuloma oboInOwl:hasDbXref UMLS_CUI:C0155253 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0030353 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0155288 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref NCI:C3307 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0919308 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0242420 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0155288 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref UMLS_CUI:C0919308 semapv:UnspecifiedMatching +DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H35.81 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD9CM:377.0 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD9CM:362.83 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H47.11 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H47.1 semapv:UnspecifiedMatching -DOID:10175 optic papillitis oboInOwl:hasDbXref ICD10CM:H35.81 semapv:UnspecifiedMatching DOID:10175 optic papillitis oboInOwl:hasDbXref ICD9CM:377.01 semapv:UnspecifiedMatching +DOID:10176 neuroretinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:10176 neuroretinitis oboInOwl:hasDbXref MESH:D012173 semapv:UnspecifiedMatching DOID:10176 neuroretinitis oboInOwl:hasDbXref UMLS_CUI:C0154874 semapv:UnspecifiedMatching -DOID:10176 neuroretinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:10177 malignant hypertensive renal disease oboInOwl:hasDbXref UMLS_CUI:C0155593 semapv:UnspecifiedMatching -DOID:10183 endobronchial lipoma oboInOwl:hasDbXref NCI:C5063 semapv:UnspecifiedMatching DOID:10183 endobronchial lipoma oboInOwl:hasDbXref UMLS_CUI:C0852937 semapv:UnspecifiedMatching +DOID:10183 endobronchial lipoma oboInOwl:hasDbXref NCI:C5063 semapv:UnspecifiedMatching DOID:10184 spindle cell lipoma oboInOwl:hasDbXref ICDO:8857/0 semapv:UnspecifiedMatching DOID:10184 spindle cell lipoma oboInOwl:hasDbXref NCI:C4254 semapv:UnspecifiedMatching DOID:10184 spindle cell lipoma oboInOwl:hasDbXref UMLS_CUI:C0334474 semapv:UnspecifiedMatching DOID:10187 esophageal lipoma oboInOwl:hasDbXref NCI:C5701 semapv:UnspecifiedMatching DOID:10187 esophageal lipoma oboInOwl:hasDbXref UMLS_CUI:C1333455 semapv:UnspecifiedMatching +DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C1333174 semapv:UnspecifiedMatching +DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C0347394 semapv:UnspecifiedMatching +DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C0153968 semapv:UnspecifiedMatching DOID:10188 skin lipoma oboInOwl:hasDbXref ICD9CM:214.0 semapv:UnspecifiedMatching DOID:10188 skin lipoma oboInOwl:hasDbXref NCI:C4616 semapv:UnspecifiedMatching DOID:10188 skin lipoma oboInOwl:hasDbXref NCI:C5566 semapv:UnspecifiedMatching -DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C0153968 semapv:UnspecifiedMatching -DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C0347394 semapv:UnspecifiedMatching -DOID:10188 skin lipoma oboInOwl:hasDbXref UMLS_CUI:C1333174 semapv:UnspecifiedMatching -DOID:1019 osteomyelitis oboInOwl:hasDbXref UMLS_CUI:C0008707 semapv:UnspecifiedMatching DOID:1019 osteomyelitis oboInOwl:hasDbXref GARD:7286 semapv:UnspecifiedMatching DOID:1019 osteomyelitis oboInOwl:hasDbXref ICD9CM:730.1 semapv:UnspecifiedMatching +DOID:1019 osteomyelitis oboInOwl:hasDbXref UMLS_CUI:C0008707 semapv:UnspecifiedMatching DOID:10190 liver lipoma oboInOwl:hasDbXref NCI:C5750 semapv:UnspecifiedMatching DOID:10190 liver lipoma oboInOwl:hasDbXref UMLS_CUI:C1333970 semapv:UnspecifiedMatching DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref ICDO:8854/0 semapv:UnspecifiedMatching @@ -12364,12 +12390,12 @@ DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref NCI:C3703 semapv:UnspecifiedMat DOID:10192 pleomorphic lipoma oboInOwl:hasDbXref UMLS_CUI:C0205823 semapv:UnspecifiedMatching DOID:10193 conventional lipoma oboInOwl:hasDbXref NCI:C27530 semapv:UnspecifiedMatching DOID:10193 conventional lipoma oboInOwl:hasDbXref UMLS_CUI:C1333059 semapv:UnspecifiedMatching -DOID:10194 kidney lipoma oboInOwl:hasDbXref NCI:C5101 semapv:UnspecifiedMatching DOID:10194 kidney lipoma oboInOwl:hasDbXref UMLS_CUI:C1335744 semapv:UnspecifiedMatching -DOID:10195 pleural lipoma oboInOwl:hasDbXref UMLS_CUI:C1335434 semapv:UnspecifiedMatching +DOID:10194 kidney lipoma oboInOwl:hasDbXref NCI:C5101 semapv:UnspecifiedMatching DOID:10195 pleural lipoma oboInOwl:hasDbXref NCI:C6644 semapv:UnspecifiedMatching -DOID:10199 breast lipoma oboInOwl:hasDbXref UMLS_CUI:C0349565 semapv:UnspecifiedMatching +DOID:10195 pleural lipoma oboInOwl:hasDbXref UMLS_CUI:C1335434 semapv:UnspecifiedMatching DOID:10199 breast lipoma oboInOwl:hasDbXref NCI:C4647 semapv:UnspecifiedMatching +DOID:10199 breast lipoma oboInOwl:hasDbXref UMLS_CUI:C0349565 semapv:UnspecifiedMatching DOID:10200 chest wall lipoma oboInOwl:hasDbXref NCI:C6719 semapv:UnspecifiedMatching DOID:10200 chest wall lipoma oboInOwl:hasDbXref UMLS_CUI:C1332932 semapv:UnspecifiedMatching DOID:10201 gallbladder lipoma oboInOwl:hasDbXref NCI:C5835 semapv:UnspecifiedMatching @@ -12378,37 +12404,37 @@ DOID:10203 external ear lipoma oboInOwl:hasDbXref NCI:C4618 semapv:UnspecifiedMa DOID:10203 external ear lipoma oboInOwl:hasDbXref UMLS_CUI:C0347423 semapv:UnspecifiedMatching DOID:10205 axillary lipoma oboInOwl:hasDbXref NCI:C35419 semapv:UnspecifiedMatching DOID:10205 axillary lipoma oboInOwl:hasDbXref UMLS_CUI:C0347429 semapv:UnspecifiedMatching -DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref ICD9CM:214.4 semapv:UnspecifiedMatching DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref NCI:C3606 semapv:UnspecifiedMatching +DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref ICD9CM:214.4 semapv:UnspecifiedMatching DOID:10206 lipoma of spermatic cord oboInOwl:hasDbXref UMLS_CUI:C0153972 semapv:UnspecifiedMatching -DOID:10207 paratesticular lipoma oboInOwl:hasDbXref NCI:C6384 semapv:UnspecifiedMatching DOID:10207 paratesticular lipoma oboInOwl:hasDbXref UMLS_CUI:C1335348 semapv:UnspecifiedMatching -DOID:10208 chondroid lipoma oboInOwl:hasDbXref UMLS_CUI:C1266131 semapv:UnspecifiedMatching -DOID:10208 chondroid lipoma oboInOwl:hasDbXref NCI:C6503 semapv:UnspecifiedMatching +DOID:10207 paratesticular lipoma oboInOwl:hasDbXref NCI:C6384 semapv:UnspecifiedMatching DOID:10208 chondroid lipoma oboInOwl:hasDbXref ICDO:8862/0 semapv:UnspecifiedMatching +DOID:10208 chondroid lipoma oboInOwl:hasDbXref NCI:C6503 semapv:UnspecifiedMatching +DOID:10208 chondroid lipoma oboInOwl:hasDbXref UMLS_CUI:C1266131 semapv:UnspecifiedMatching DOID:10209 extrahepatic bile duct lipoma oboInOwl:hasDbXref NCI:C5854 semapv:UnspecifiedMatching DOID:10209 extrahepatic bile duct lipoma oboInOwl:hasDbXref UMLS_CUI:C1333509 semapv:UnspecifiedMatching DOID:10211 cholelithiasis oboInOwl:hasDbXref EFO:0004799 semapv:UnspecifiedMatching DOID:10211 cholelithiasis oboInOwl:hasDbXref ICD9CM:574.5 semapv:UnspecifiedMatching DOID:10211 cholelithiasis oboInOwl:hasDbXref UMLS_CUI:C0006739 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153244 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153243 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153242 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153241 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0031946 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref NCI:C85011 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref MESH:D010874 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0031946 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.3 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153242 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153243 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153244 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref UMLS_CUI:C0153241 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.2 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.1 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.0 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.1 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.2 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref GARD:7397 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.9 semapv:UnspecifiedMatching -DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.0 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.9 semapv:UnspecifiedMatching DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.3 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.1 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref ICD10CM:A67.0 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref GARD:7397 semapv:UnspecifiedMatching +DOID:1022 pinta disease oboInOwl:hasDbXref ICD9CM:103.1 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref GARD:6263 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref ICD10CM:M33 semapv:UnspecifiedMatching DOID:10223 dermatomyositis oboInOwl:hasDbXref ICD9CM:710.3 semapv:UnspecifiedMatching @@ -12429,79 +12455,80 @@ DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref ICD10CM:H50.61 sema DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref ICD9CM:378.61 semapv:UnspecifiedMatching DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref MESH:D015835 semapv:UnspecifiedMatching DOID:10235 Brown's tendon sheath syndrome oboInOwl:hasDbXref UMLS_CUI:C0155339 semapv:UnspecifiedMatching -DOID:10236 exhibitionism oboInOwl:hasDbXref NCI:C94352 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref UMLS_CUI:C0015269 semapv:UnspecifiedMatching -DOID:10236 exhibitionism oboInOwl:hasDbXref MESH:D005084 semapv:UnspecifiedMatching +DOID:10236 exhibitionism oboInOwl:hasDbXref NCI:C94352 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref ICD10CM:F65.2 semapv:UnspecifiedMatching DOID:10236 exhibitionism oboInOwl:hasDbXref ICD9CM:302.4 semapv:UnspecifiedMatching +DOID:10236 exhibitionism oboInOwl:hasDbXref MESH:D005084 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref ORDO:548 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref OMIM:609888 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref OMIM:607572 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref NCI:C84824 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref UMLS_CUI:C0023343 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref EFO:0001054 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref GARD:6886 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref ICD10CM:A30 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref ICD9CM:030 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref ICD10CM:A30 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref GARD:6886 semapv:UnspecifiedMatching +DOID:1024 leprosy oboInOwl:hasDbXref EFO:0001054 semapv:UnspecifiedMatching DOID:1024 leprosy oboInOwl:hasDbXref MESH:D007918 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref NCI:C84824 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref OMIM:607572 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref OMIM:609888 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref OMIM:613407 semapv:UnspecifiedMatching -DOID:1024 leprosy oboInOwl:hasDbXref ORDO:548 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref UMLS_CUI:C0039730 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref NCI:C35069 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref MESH:D013789 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref ICD10CM:D56 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref GARD:7756 semapv:UnspecifiedMatching DOID:10241 thalassemia oboInOwl:hasDbXref ICD9CM:282.4 semapv:UnspecifiedMatching -DOID:10242 ehrlichiosis oboInOwl:hasDbXref UMLS_CUI:C0085399 semapv:UnspecifiedMatching +DOID:10242 ehrlichiosis skos:exactMatch MESH:D016873 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref GARD:2092 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref ICD10CM:A77.4 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref ICD9CM:082.4 semapv:UnspecifiedMatching DOID:10242 ehrlichiosis oboInOwl:hasDbXref MESH:D016873 semapv:UnspecifiedMatching -DOID:10242 ehrlichiosis skos:exactMatch MESH:D016873 semapv:UnspecifiedMatching +DOID:10242 ehrlichiosis oboInOwl:hasDbXref UMLS_CUI:C0085399 semapv:UnspecifiedMatching DOID:10247 pleurisy oboInOwl:hasDbXref UMLS_CUI:C0029799 semapv:UnspecifiedMatching DOID:10247 pleurisy oboInOwl:hasDbXref ICD9CM:511.8 semapv:UnspecifiedMatching -DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref MESH:D015441 semapv:UnspecifiedMatching -DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref UMLS_CUI:C0023351 semapv:UnspecifiedMatching DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref ICD10CM:A30.1 semapv:UnspecifiedMatching DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref ICD9CM:030.1 semapv:UnspecifiedMatching -DOID:10250 louping ill oboInOwl:hasDbXref MESH:D008146 semapv:UnspecifiedMatching -DOID:10250 louping ill oboInOwl:hasDbXref UMLS_CUI:C0024025 semapv:UnspecifiedMatching +DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref MESH:D015441 semapv:UnspecifiedMatching +DOID:1025 tuberculoid leprosy oboInOwl:hasDbXref UMLS_CUI:C0023351 semapv:UnspecifiedMatching DOID:10250 louping ill oboInOwl:hasDbXref ICD10CM:A84.89 semapv:UnspecifiedMatching DOID:10250 louping ill oboInOwl:hasDbXref ICD9CM:063.1 semapv:UnspecifiedMatching +DOID:10250 louping ill oboInOwl:hasDbXref MESH:D008146 semapv:UnspecifiedMatching +DOID:10250 louping ill oboInOwl:hasDbXref UMLS_CUI:C0024025 semapv:UnspecifiedMatching +DOID:10254 strawberry gallbladder oboInOwl:hasDbXref UMLS_CUI:C0152456 semapv:UnspecifiedMatching DOID:10254 strawberry gallbladder oboInOwl:hasDbXref ICD10CM:K82.4 semapv:UnspecifiedMatching DOID:10254 strawberry gallbladder oboInOwl:hasDbXref ICD9CM:575.6 semapv:UnspecifiedMatching -DOID:10254 strawberry gallbladder oboInOwl:hasDbXref UMLS_CUI:C0152456 semapv:UnspecifiedMatching -DOID:10261 otorrhea oboInOwl:hasDbXref NCI:C35199 semapv:UnspecifiedMatching -DOID:10261 otorrhea oboInOwl:hasDbXref UMLS_CUI:C0155540 semapv:UnspecifiedMatching DOID:10261 otorrhea oboInOwl:hasDbXref ICD10CM:H92.1 semapv:UnspecifiedMatching DOID:10261 otorrhea oboInOwl:hasDbXref ICD9CM:388.6 semapv:UnspecifiedMatching -DOID:10264 mumps oboInOwl:hasDbXref GARD:7116 semapv:UnspecifiedMatching -DOID:10264 mumps oboInOwl:hasDbXref ICD10CM:B26 semapv:UnspecifiedMatching -DOID:10264 mumps oboInOwl:hasDbXref ICD9CM:072 semapv:UnspecifiedMatching -DOID:10264 mumps oboInOwl:hasDbXref MESH:D009107 semapv:UnspecifiedMatching +DOID:10261 otorrhea oboInOwl:hasDbXref NCI:C35199 semapv:UnspecifiedMatching +DOID:10261 otorrhea oboInOwl:hasDbXref UMLS_CUI:C0155540 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref NCI:C29888 semapv:UnspecifiedMatching +DOID:10264 mumps oboInOwl:hasDbXref MESH:D009107 semapv:UnspecifiedMatching DOID:10264 mumps oboInOwl:hasDbXref UMLS_CUI:C0026780 semapv:UnspecifiedMatching -DOID:10266 subendocardial infarction acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155655 semapv:UnspecifiedMatching +DOID:10264 mumps oboInOwl:hasDbXref ICD10CM:B26 semapv:UnspecifiedMatching +DOID:10264 mumps oboInOwl:hasDbXref GARD:7116 semapv:UnspecifiedMatching +DOID:10264 mumps oboInOwl:hasDbXref ICD9CM:072 semapv:UnspecifiedMatching DOID:10266 subendocardial infarction acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410.7 semapv:UnspecifiedMatching -DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref UMLS_CUI:C0155702 semapv:UnspecifiedMatching +DOID:10266 subendocardial infarction acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155655 semapv:UnspecifiedMatching DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref ICD10CM:I44.60 semapv:UnspecifiedMatching DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref ICD9CM:426.2 semapv:UnspecifiedMatching +DOID:10272 left bundle branch hemiblock oboInOwl:hasDbXref UMLS_CUI:C0155702 semapv:UnspecifiedMatching DOID:10273 heart conduction disease oboInOwl:hasDbXref ICD9CM:426.6 semapv:UnspecifiedMatching DOID:10273 heart conduction disease oboInOwl:hasDbXref UMLS_CUI:C0029630 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:609558 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:610321 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:610997 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611100 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611868 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611928 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS_CUI:C0033578 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref ORDO:1331 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611958 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611955 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611928 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611868 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611100 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:610997 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:610321 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611959 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref ORDO:1331 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref UMLS_CUI:C0376358 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:609558 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:611955 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:609299 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:602759 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref KEGG:05215 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:608656 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:602759 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:601518 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:300704 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:300147 semapv:UnspecifiedMatching @@ -12509,19 +12536,18 @@ DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:176807 semapv:UnspecifiedMatc DOID:10283 prostate cancer oboInOwl:hasDbXref NCI:C7378 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref NCI:C3343 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref MESH:D011471 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref KEGG:05215 semapv:UnspecifiedMatching +DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:608658 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref ICD9CM:185 semapv:UnspecifiedMatching DOID:10283 prostate cancer oboInOwl:hasDbXref ICD10CM:C61 semapv:UnspecifiedMatching -DOID:10283 prostate cancer oboInOwl:hasDbXref OMIM:608658 semapv:UnspecifiedMatching -DOID:10286 prostate carcinoma oboInOwl:hasDbXref UMLS_CUI:C0600139 semapv:UnspecifiedMatching -DOID:10286 prostate carcinoma oboInOwl:hasDbXref NCI:C4863 semapv:UnspecifiedMatching DOID:10286 prostate carcinoma oboInOwl:hasDbXref EFO:0001663 semapv:UnspecifiedMatching DOID:10286 prostate carcinoma oboInOwl:hasDbXref KEGG:05215 semapv:UnspecifiedMatching -DOID:10287 prostate squamous cell carcinoma oboInOwl:hasDbXref NCI:C5536 semapv:UnspecifiedMatching +DOID:10286 prostate carcinoma oboInOwl:hasDbXref NCI:C4863 semapv:UnspecifiedMatching +DOID:10286 prostate carcinoma oboInOwl:hasDbXref UMLS_CUI:C0600139 semapv:UnspecifiedMatching DOID:10287 prostate squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1302530 semapv:UnspecifiedMatching -DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref MESH:C549759 semapv:UnspecifiedMatching +DOID:10287 prostate squamous cell carcinoma oboInOwl:hasDbXref NCI:C5536 semapv:UnspecifiedMatching DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref NCI:C5531 semapv:UnspecifiedMatching DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1334615 semapv:UnspecifiedMatching +DOID:10289 prostate malignant phyllodes tumor oboInOwl:hasDbXref MESH:C549759 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref GARD:6422 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching DOID:1029 familial periodic paralysis oboInOwl:hasDbXref MESH:D010245 semapv:UnspecifiedMatching @@ -12529,15 +12555,15 @@ DOID:1029 familial periodic paralysis oboInOwl:hasDbXref NCI:C84709 semapv:Unspe DOID:1029 familial periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0030443 semapv:UnspecifiedMatching DOID:10290 prostate lymphoma oboInOwl:hasDbXref NCI:C5533 semapv:UnspecifiedMatching DOID:10290 prostate lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335512 semapv:UnspecifiedMatching -DOID:10293 monocular esotropia oboInOwl:hasDbXref UMLS_CUI:C0152204 semapv:UnspecifiedMatching -DOID:10293 monocular esotropia oboInOwl:hasDbXref MESH:D004948 semapv:UnspecifiedMatching DOID:10293 monocular esotropia oboInOwl:hasDbXref ICD10CM:H50.01 semapv:UnspecifiedMatching DOID:10293 monocular esotropia oboInOwl:hasDbXref ICD9CM:378.01 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease oboInOwl:hasDbXref ICD10CM:I73.0 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease oboInOwl:hasDbXref MESH:D011928 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease oboInOwl:hasDbXref OMIM:179600 semapv:UnspecifiedMatching -DOID:10300 Raynaud disease oboInOwl:hasDbXref UMLS_CUI:C0034734 semapv:UnspecifiedMatching +DOID:10293 monocular esotropia oboInOwl:hasDbXref MESH:D004948 semapv:UnspecifiedMatching +DOID:10293 monocular esotropia oboInOwl:hasDbXref UMLS_CUI:C0152204 semapv:UnspecifiedMatching DOID:10300 Raynaud disease skos:exactMatch MESH:D011928 semapv:UnspecifiedMatching +DOID:10300 Raynaud disease oboInOwl:hasDbXref UMLS_CUI:C0034734 semapv:UnspecifiedMatching +DOID:10300 Raynaud disease oboInOwl:hasDbXref OMIM:179600 semapv:UnspecifiedMatching +DOID:10300 Raynaud disease oboInOwl:hasDbXref MESH:D011928 semapv:UnspecifiedMatching +DOID:10300 Raynaud disease oboInOwl:hasDbXref ICD10CM:I73.0 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref ICD10CM:K11.2 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref MESH:D010309 semapv:UnspecifiedMatching DOID:10301 parotitis oboInOwl:hasDbXref NCI:C114281 semapv:UnspecifiedMatching @@ -12545,201 +12571,201 @@ DOID:10301 parotitis oboInOwl:hasDbXref UMLS_CUI:C0030583 semapv:UnspecifiedMatc DOID:10301 parotitis skos:exactMatch MESH:D010309 semapv:UnspecifiedMatching DOID:10302 parotid disease oboInOwl:hasDbXref MESH:D010305 semapv:UnspecifiedMatching DOID:10302 parotid disease oboInOwl:hasDbXref UMLS_CUI:C0030579 semapv:UnspecifiedMatching -DOID:10303 sialadenitis oboInOwl:hasDbXref MESH:D012793 semapv:UnspecifiedMatching -DOID:10303 sialadenitis oboInOwl:hasDbXref UMLS_CUI:C0037023 semapv:UnspecifiedMatching -DOID:10303 sialadenitis oboInOwl:hasDbXref NCI:C26882 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref GARD:7638 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref ICD10CM:K11.2 semapv:UnspecifiedMatching DOID:10303 sialadenitis oboInOwl:hasDbXref ICD9CM:527.2 semapv:UnspecifiedMatching -DOID:10310 viral meningitis oboInOwl:hasDbXref ICD10CM:A87 semapv:UnspecifiedMatching +DOID:10303 sialadenitis oboInOwl:hasDbXref MESH:D012793 semapv:UnspecifiedMatching +DOID:10303 sialadenitis oboInOwl:hasDbXref NCI:C26882 semapv:UnspecifiedMatching +DOID:10303 sialadenitis oboInOwl:hasDbXref UMLS_CUI:C0037023 semapv:UnspecifiedMatching DOID:10310 viral meningitis oboInOwl:hasDbXref ICD9CM:047.9 semapv:UnspecifiedMatching -DOID:10310 viral meningitis oboInOwl:hasDbXref MESH:D008587 semapv:UnspecifiedMatching -DOID:10310 viral meningitis oboInOwl:hasDbXref NCI:C118298 semapv:UnspecifiedMatching DOID:10310 viral meningitis oboInOwl:hasDbXref UMLS_CUI:C0025297 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref NCI:C35432 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref UMLS_CUI:C0375268 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref NCI:C34582 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref UMLS_CUI:C0014118 semapv:UnspecifiedMatching -DOID:10314 endocarditis oboInOwl:hasDbXref ICD9CM:421.9 semapv:UnspecifiedMatching +DOID:10310 viral meningitis oboInOwl:hasDbXref NCI:C118298 semapv:UnspecifiedMatching +DOID:10310 viral meningitis oboInOwl:hasDbXref ICD10CM:A87 semapv:UnspecifiedMatching +DOID:10310 viral meningitis oboInOwl:hasDbXref MESH:D008587 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref ICD10CM:I33.9 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref ICD9CM:421.9 semapv:UnspecifiedMatching DOID:10314 endocarditis oboInOwl:hasDbXref MESH:D004696 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref NCI:C34582 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref NCI:C35432 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref UMLS_CUI:C0014118 semapv:UnspecifiedMatching +DOID:10314 endocarditis oboInOwl:hasDbXref UMLS_CUI:C0375268 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0032273 semapv:UnspecifiedMatching -DOID:10316 pneumoconiosis oboInOwl:hasDbXref NCI:C26861 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref ICD10CM:J64 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref ICD9CM:505 semapv:UnspecifiedMatching DOID:10316 pneumoconiosis oboInOwl:hasDbXref MESH:D011009 semapv:UnspecifiedMatching -DOID:10319 mixed mineral dust pneumoconiosis oboInOwl:hasDbXref NCI:C27559 semapv:UnspecifiedMatching +DOID:10316 pneumoconiosis oboInOwl:hasDbXref NCI:C26861 semapv:UnspecifiedMatching DOID:10319 mixed mineral dust pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0340184 semapv:UnspecifiedMatching +DOID:10319 mixed mineral dust pneumoconiosis oboInOwl:hasDbXref NCI:C27559 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref GARD:5852 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref ICD10CM:J61 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref ICD9CM:501 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref MESH:D001195 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref NCI:C84573 semapv:UnspecifiedMatching DOID:10320 asbestosis oboInOwl:hasDbXref UMLS_CUI:C0003949 semapv:UnspecifiedMatching -DOID:10321 baritosis oboInOwl:hasDbXref UMLS_CUI:C0340177 semapv:UnspecifiedMatching -DOID:10321 baritosis oboInOwl:hasDbXref NCI:C34410 semapv:UnspecifiedMatching DOID:10321 baritosis oboInOwl:hasDbXref GARD:8371 semapv:UnspecifiedMatching DOID:10321 baritosis oboInOwl:hasDbXref MESH:C537080 semapv:UnspecifiedMatching -DOID:10322 berylliosis oboInOwl:hasDbXref ICD10CM:J63.2 semapv:UnspecifiedMatching +DOID:10321 baritosis oboInOwl:hasDbXref NCI:C34410 semapv:UnspecifiedMatching +DOID:10321 baritosis oboInOwl:hasDbXref UMLS_CUI:C0340177 semapv:UnspecifiedMatching DOID:10322 berylliosis oboInOwl:hasDbXref MESH:D001607 semapv:UnspecifiedMatching +DOID:10322 berylliosis oboInOwl:hasDbXref ICD10CM:J63.2 semapv:UnspecifiedMatching DOID:10322 berylliosis oboInOwl:hasDbXref UMLS_CUI:C0005138 semapv:UnspecifiedMatching -DOID:10323 byssinosis oboInOwl:hasDbXref GARD:5976 semapv:UnspecifiedMatching -DOID:10323 byssinosis oboInOwl:hasDbXref ICD10CM:J66.0 semapv:UnspecifiedMatching -DOID:10323 byssinosis oboInOwl:hasDbXref MESH:D002095 semapv:UnspecifiedMatching -DOID:10323 byssinosis oboInOwl:hasDbXref NCI:C84605 semapv:UnspecifiedMatching DOID:10323 byssinosis oboInOwl:hasDbXref UMLS_CUI:C0006542 semapv:UnspecifiedMatching -DOID:10324 anthracosilicosis oboInOwl:hasDbXref NCI:C34389 semapv:UnspecifiedMatching +DOID:10323 byssinosis oboInOwl:hasDbXref NCI:C84605 semapv:UnspecifiedMatching +DOID:10323 byssinosis oboInOwl:hasDbXref MESH:D002095 semapv:UnspecifiedMatching +DOID:10323 byssinosis oboInOwl:hasDbXref ICD10CM:J66.0 semapv:UnspecifiedMatching +DOID:10323 byssinosis oboInOwl:hasDbXref GARD:5976 semapv:UnspecifiedMatching DOID:10324 anthracosilicosis oboInOwl:hasDbXref ICD10CM:J60 semapv:UnspecifiedMatching DOID:10324 anthracosilicosis oboInOwl:hasDbXref MESH:D000874 semapv:UnspecifiedMatching +DOID:10324 anthracosilicosis oboInOwl:hasDbXref NCI:C34389 semapv:UnspecifiedMatching DOID:10324 anthracosilicosis oboInOwl:hasDbXref UMLS_CUI:C0003164 semapv:UnspecifiedMatching -DOID:10325 silicosis oboInOwl:hasDbXref NCI:C3369 semapv:UnspecifiedMatching -DOID:10325 silicosis oboInOwl:hasDbXref UMLS_CUI:C0037116 semapv:UnspecifiedMatching -DOID:10325 silicosis oboInOwl:hasDbXref MESH:D012829 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref GARD:7647 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref ICD10CM:J62.8 semapv:UnspecifiedMatching DOID:10325 silicosis oboInOwl:hasDbXref ICD9CM:502 semapv:UnspecifiedMatching +DOID:10325 silicosis oboInOwl:hasDbXref MESH:D012829 semapv:UnspecifiedMatching +DOID:10325 silicosis oboInOwl:hasDbXref NCI:C3369 semapv:UnspecifiedMatching +DOID:10325 silicosis oboInOwl:hasDbXref UMLS_CUI:C0037116 semapv:UnspecifiedMatching DOID:10326 Caplan's syndrome oboInOwl:hasDbXref MESH:D002205 semapv:UnspecifiedMatching DOID:10326 Caplan's syndrome oboInOwl:hasDbXref UMLS_CUI:C0006915 semapv:UnspecifiedMatching -DOID:10327 anthracosis oboInOwl:hasDbXref ICD10CM:J60 semapv:UnspecifiedMatching +DOID:10327 anthracosis oboInOwl:hasDbXref UMLS_CUI:C0003165 semapv:UnspecifiedMatching +DOID:10327 anthracosis oboInOwl:hasDbXref NCI:C34390 semapv:UnspecifiedMatching DOID:10327 anthracosis oboInOwl:hasDbXref ICD9CM:500 semapv:UnspecifiedMatching +DOID:10327 anthracosis oboInOwl:hasDbXref ICD10CM:J60 semapv:UnspecifiedMatching DOID:10327 anthracosis oboInOwl:hasDbXref MESH:D055008 semapv:UnspecifiedMatching -DOID:10327 anthracosis oboInOwl:hasDbXref NCI:C34390 semapv:UnspecifiedMatching -DOID:10327 anthracosis oboInOwl:hasDbXref UMLS_CUI:C0003165 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref GARD:7645 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref ICD10CM:J63.4 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref MESH:D012806 semapv:UnspecifiedMatching DOID:10328 siderosis oboInOwl:hasDbXref UMLS_CUI:C0037061 semapv:UnspecifiedMatching -DOID:10329 pulmonary talcosis oboInOwl:hasDbXref UMLS_CUI:C0238377 semapv:UnspecifiedMatching -DOID:10329 pulmonary talcosis oboInOwl:hasDbXref NCI:C27026 semapv:UnspecifiedMatching DOID:10329 pulmonary talcosis oboInOwl:hasDbXref ICD10CM:J62.0 semapv:UnspecifiedMatching +DOID:10329 pulmonary talcosis oboInOwl:hasDbXref NCI:C27026 semapv:UnspecifiedMatching +DOID:10329 pulmonary talcosis oboInOwl:hasDbXref UMLS_CUI:C0238377 semapv:UnspecifiedMatching DOID:10330 slate pneumoconiosis oboInOwl:hasDbXref NCI:C35397 semapv:UnspecifiedMatching DOID:10330 slate pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0340186 semapv:UnspecifiedMatching +DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0264435 semapv:UnspecifiedMatching DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref GARD:8355 semapv:UnspecifiedMatching DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref NCI:C35315 semapv:UnspecifiedMatching -DOID:10331 kaolin pneumoconiosis oboInOwl:hasDbXref UMLS_CUI:C0264435 semapv:UnspecifiedMatching +DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref UMLS_CUI:C0271342 semapv:UnspecifiedMatching DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref ICD10CM:H47.23 semapv:UnspecifiedMatching DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref ICD9CM:377.14 semapv:UnspecifiedMatching -DOID:10337 glaucomatous atrophy of optic disc oboInOwl:hasDbXref UMLS_CUI:C0271342 semapv:UnspecifiedMatching DOID:10341 chronic meningitis oboInOwl:hasDbXref ICD10CM:G03.1 semapv:UnspecifiedMatching DOID:10341 chronic meningitis oboInOwl:hasDbXref ICD9CM:322.2 semapv:UnspecifiedMatching DOID:10341 chronic meningitis oboInOwl:hasDbXref UMLS_CUI:C0154653 semapv:UnspecifiedMatching -DOID:10348 blepharophimosis skos:exactMatch MESH:D016569 semapv:UnspecifiedMatching -DOID:10348 blepharophimosis oboInOwl:hasDbXref UMLS_CUI:C0005744 semapv:UnspecifiedMatching -DOID:10348 blepharophimosis oboInOwl:hasDbXref MESH:D016569 semapv:UnspecifiedMatching -DOID:10348 blepharophimosis oboInOwl:hasDbXref ICD10CM:H02.52 semapv:UnspecifiedMatching DOID:10348 blepharophimosis oboInOwl:hasDbXref GARD:5932 semapv:UnspecifiedMatching +DOID:10348 blepharophimosis oboInOwl:hasDbXref ICD10CM:H02.52 semapv:UnspecifiedMatching DOID:10348 blepharophimosis oboInOwl:hasDbXref ICD9CM:374.46 semapv:UnspecifiedMatching +DOID:10348 blepharophimosis oboInOwl:hasDbXref MESH:D016569 semapv:UnspecifiedMatching +DOID:10348 blepharophimosis oboInOwl:hasDbXref UMLS_CUI:C0005744 semapv:UnspecifiedMatching +DOID:10348 blepharophimosis skos:exactMatch MESH:D016569 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref ICD10CM:N60.0 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref ICD9CM:610.0 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref NCI:C3378 semapv:UnspecifiedMatching DOID:10349 solitary cyst of breast oboInOwl:hasDbXref UMLS_CUI:C0037619 semapv:UnspecifiedMatching -DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10CM:C94.8 semapv:UnspecifiedMatching DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref ICDO:9948/3 semapv:UnspecifiedMatching -DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref NCI:C8647 semapv:UnspecifiedMatching DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref UMLS_CUI:C1292777 semapv:UnspecifiedMatching -DOID:10350 breast cyst oboInOwl:hasDbXref UMLS_CUI:C0006144 semapv:UnspecifiedMatching +DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref ICD10CM:C94.8 semapv:UnspecifiedMatching +DOID:1035 aggressive NK-cell leukemia oboInOwl:hasDbXref NCI:C8647 semapv:UnspecifiedMatching DOID:10350 breast cyst oboInOwl:hasDbXref ICD10CM:N60.0 semapv:UnspecifiedMatching DOID:10350 breast cyst oboInOwl:hasDbXref MESH:D047688 semapv:UnspecifiedMatching DOID:10350 breast cyst oboInOwl:hasDbXref NCI:C5315 semapv:UnspecifiedMatching -DOID:10352 breast fibroadenosis oboInOwl:hasDbXref UMLS_CUI:C1305875 semapv:UnspecifiedMatching +DOID:10350 breast cyst oboInOwl:hasDbXref UMLS_CUI:C0006144 semapv:UnspecifiedMatching DOID:10352 breast fibroadenosis oboInOwl:hasDbXref ICD10CM:N60.2 semapv:UnspecifiedMatching DOID:10352 breast fibroadenosis oboInOwl:hasDbXref ICD9CM:610.2 semapv:UnspecifiedMatching +DOID:10352 breast fibroadenosis oboInOwl:hasDbXref UMLS_CUI:C1305875 semapv:UnspecifiedMatching +DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref NCI:C3660 semapv:UnspecifiedMatching DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref ICD10CM:N60.3 semapv:UnspecifiedMatching DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref ICD9CM:610.3 semapv:UnspecifiedMatching -DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref NCI:C3660 semapv:UnspecifiedMatching DOID:10353 fibrosclerosis of breast oboInOwl:hasDbXref UMLS_CUI:C0156318 semapv:UnspecifiedMatching +DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref UMLS_CUI:C0016034 semapv:UnspecifiedMatching +DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref NCI:C3039 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref ICD10CM:N60.1 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref ICD9CM:610.1 semapv:UnspecifiedMatching DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref MESH:D005348 semapv:UnspecifiedMatching -DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref NCI:C3039 semapv:UnspecifiedMatching -DOID:10354 breast fibrocystic disease oboInOwl:hasDbXref UMLS_CUI:C0016034 semapv:UnspecifiedMatching DOID:1036 chronic leukemia oboInOwl:hasDbXref NCI:C3483 semapv:UnspecifiedMatching +DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref ICD9CM:322.1 semapv:UnspecifiedMatching DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref NCI:C128374 semapv:UnspecifiedMatching DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref UMLS_CUI:C0154652 semapv:UnspecifiedMatching -DOID:10361 eosinophilic meningitis oboInOwl:hasDbXref ICD9CM:322.1 semapv:UnspecifiedMatching -DOID:10366 epididymis cancer oboInOwl:hasDbXref NCI:C3558 semapv:UnspecifiedMatching -DOID:10366 epididymis cancer oboInOwl:hasDbXref UMLS_CUI:C0153602 semapv:UnspecifiedMatching DOID:10366 epididymis cancer oboInOwl:hasDbXref ICD10CM:C63.0 semapv:UnspecifiedMatching DOID:10366 epididymis cancer oboInOwl:hasDbXref ICD9CM:187.5 semapv:UnspecifiedMatching +DOID:10366 epididymis cancer oboInOwl:hasDbXref NCI:C3558 semapv:UnspecifiedMatching +DOID:10366 epididymis cancer oboInOwl:hasDbXref UMLS_CUI:C0153602 semapv:UnspecifiedMatching DOID:10368 epididymis adenocarcinoma oboInOwl:hasDbXref NCI:C39957 semapv:UnspecifiedMatching DOID:10368 epididymis adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1510784 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023448 semapv:UnspecifiedMatching -DOID:1037 lymphoid leukemia oboInOwl:hasDbXref MESH:D007945 semapv:UnspecifiedMatching +DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICDO:9820/3 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref NCI:C7539 semapv:UnspecifiedMatching -DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICD9CM:204 semapv:UnspecifiedMatching DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICD10CM:C91 semapv:UnspecifiedMatching -DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICDO:9820/3 semapv:UnspecifiedMatching +DOID:1037 lymphoid leukemia oboInOwl:hasDbXref ICD9CM:204 semapv:UnspecifiedMatching +DOID:1037 lymphoid leukemia oboInOwl:hasDbXref MESH:D007945 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref GARD:7913 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref ICD10CM:A66 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref ICD9CM:102 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref MESH:D015001 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref NCI:C41353 semapv:UnspecifiedMatching DOID:10371 yaws oboInOwl:hasDbXref UMLS_CUI:C0043388 semapv:UnspecifiedMatching -DOID:10375 strabismic amblyopia oboInOwl:hasDbXref UMLS_CUI:C0750903 semapv:UnspecifiedMatching -DOID:10375 strabismic amblyopia oboInOwl:hasDbXref MESH:D000550 semapv:UnspecifiedMatching DOID:10375 strabismic amblyopia oboInOwl:hasDbXref ICD10CM:H53.03 semapv:UnspecifiedMatching DOID:10375 strabismic amblyopia oboInOwl:hasDbXref ICD9CM:368.01 semapv:UnspecifiedMatching -DOID:10376 amblyopia oboInOwl:hasDbXref ICD10CM:H53.00 semapv:UnspecifiedMatching -DOID:10376 amblyopia oboInOwl:hasDbXref ICD9CM:368.00 semapv:UnspecifiedMatching -DOID:10376 amblyopia oboInOwl:hasDbXref MESH:D000550 semapv:UnspecifiedMatching +DOID:10375 strabismic amblyopia oboInOwl:hasDbXref MESH:D000550 semapv:UnspecifiedMatching +DOID:10375 strabismic amblyopia oboInOwl:hasDbXref UMLS_CUI:C0750903 semapv:UnspecifiedMatching DOID:10376 amblyopia oboInOwl:hasDbXref NCI:C118764 semapv:UnspecifiedMatching -DOID:10376 amblyopia oboInOwl:hasDbXref UMLS_CUI:C0002418 semapv:UnspecifiedMatching DOID:10376 amblyopia skos:exactMatch MESH:D000550 semapv:UnspecifiedMatching +DOID:10376 amblyopia oboInOwl:hasDbXref UMLS_CUI:C0002418 semapv:UnspecifiedMatching +DOID:10376 amblyopia oboInOwl:hasDbXref MESH:D000550 semapv:UnspecifiedMatching +DOID:10376 amblyopia oboInOwl:hasDbXref ICD10CM:H53.00 semapv:UnspecifiedMatching +DOID:10376 amblyopia oboInOwl:hasDbXref ICD9CM:368.00 semapv:UnspecifiedMatching DOID:10377 refractive amblyopia oboInOwl:hasDbXref ICD10CM:H53.02 semapv:UnspecifiedMatching DOID:10377 refractive amblyopia oboInOwl:hasDbXref ICD9CM:368.03 semapv:UnspecifiedMatching DOID:10377 refractive amblyopia oboInOwl:hasDbXref UMLS_CUI:C0152190 semapv:UnspecifiedMatching DOID:10378 deprivation amblyopia oboInOwl:hasDbXref ICD10CM:H53.01 semapv:UnspecifiedMatching DOID:10378 deprivation amblyopia oboInOwl:hasDbXref ICD9CM:368.02 semapv:UnspecifiedMatching DOID:10378 deprivation amblyopia oboInOwl:hasDbXref UMLS_CUI:C0152189 semapv:UnspecifiedMatching -DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref UMLS_CUI:C1510479 semapv:UnspecifiedMatching -DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref ICD10CM:G54.5 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref ICD9CM:353.5 semapv:UnspecifiedMatching DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref MESH:D020968 semapv:UnspecifiedMatching -DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9832/3 semapv:UnspecifiedMatching -DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015463 semapv:UnspecifiedMatching -DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref NCI:C3181 semapv:UnspecifiedMatching +DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref OMIM:162100 semapv:UnspecifiedMatching +DOID:10383 amyotrophic neuralgia oboInOwl:hasDbXref UMLS_CUI:C1510479 semapv:UnspecifiedMatching DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023486 semapv:UnspecifiedMatching +DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref NCI:C3181 semapv:UnspecifiedMatching +DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref MESH:D015463 semapv:UnspecifiedMatching +DOID:1039 prolymphocytic leukemia oboInOwl:hasDbXref ICDO:9832/3 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD10CM:M89.4 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD9CM:731.2 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010005 semapv:UnspecifiedMatching DOID:10393 secondary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS_CUI:C0029412 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0524688 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0152938 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0152937 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.4 semapv:UnspecifiedMatching -DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.3 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD10CM:A20.2 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.3 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.4 semapv:UnspecifiedMatching DOID:10398 pneumonic plague oboInOwl:hasDbXref ICD9CM:020.5 semapv:UnspecifiedMatching -DOID:10399 seminal vesicle chronic gonorrhea oboInOwl:hasDbXref ICD9CM:098.34 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0152937 semapv:UnspecifiedMatching +DOID:10398 pneumonic plague oboInOwl:hasDbXref UMLS_CUI:C0524688 semapv:UnspecifiedMatching DOID:10399 seminal vesicle chronic gonorrhea oboInOwl:hasDbXref UMLS_CUI:C0153205 semapv:UnspecifiedMatching -DOID:104 bacterial infectious disease oboInOwl:hasDbXref UMLS_CUI:C0004623 semapv:UnspecifiedMatching -DOID:104 bacterial infectious disease oboInOwl:hasDbXref NCI:C2890 semapv:UnspecifiedMatching +DOID:10399 seminal vesicle chronic gonorrhea oboInOwl:hasDbXref ICD9CM:098.34 semapv:UnspecifiedMatching DOID:104 bacterial infectious disease oboInOwl:hasDbXref ICD10CM:A49.9 semapv:UnspecifiedMatching DOID:104 bacterial infectious disease oboInOwl:hasDbXref MESH:D001424 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:609630 semapv:UnspecifiedMatching +DOID:104 bacterial infectious disease oboInOwl:hasDbXref NCI:C2890 semapv:UnspecifiedMatching +DOID:104 bacterial infectious disease oboInOwl:hasDbXref UMLS_CUI:C0004623 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:151400 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023434 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ORDO:67038 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612559 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612558 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023434 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:612557 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:151400 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ICD9CM:204.1 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref NCI:C3163 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref EFO:0000095 semapv:UnspecifiedMatching -DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref GARD:6104 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:609630 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref OMIM:109543 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref NCI:C3163 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref MESH:D015451 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ICD9CM:204.1 semapv:UnspecifiedMatching DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref ICD10CM:C91.10 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref GARD:6104 semapv:UnspecifiedMatching +DOID:1040 chronic lymphocytic leukemia oboInOwl:hasDbXref EFO:0000095 semapv:UnspecifiedMatching DOID:10400 gonococcal seminal vesiculitis oboInOwl:hasDbXref UMLS_CUI:C0578661 semapv:UnspecifiedMatching DOID:10423 acute pericementitis oboInOwl:hasDbXref ICD9CM:523.33 semapv:UnspecifiedMatching DOID:10423 acute pericementitis oboInOwl:hasDbXref NCI:C34354 semapv:UnspecifiedMatching DOID:10423 acute pericementitis oboInOwl:hasDbXref UMLS_CUI:C0001342 semapv:UnspecifiedMatching +DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ORDO:2345 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref UMLS_CUI:C0022738 semapv:UnspecifiedMatching -DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref OMIMPS:118100 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref NCI:C98967 semapv:UnspecifiedMatching -DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ORDO:2345 semapv:UnspecifiedMatching +DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref OMIMPS:118100 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ICD9CM:756.16 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref ICD10CM:Q76.1 semapv:UnspecifiedMatching DOID:10426 Klippel-Feil syndrome oboInOwl:hasDbXref GARD:10280 semapv:UnspecifiedMatching @@ -12752,15 +12778,15 @@ DOID:10435 purulent acute otitis media oboInOwl:hasDbXref UMLS_CUI:C0155439 sema DOID:10439 Mooren's ulcer oboInOwl:hasDbXref ICD10CM:H16.05 semapv:UnspecifiedMatching DOID:10439 Mooren's ulcer oboInOwl:hasDbXref ICD9CM:370.07 semapv:UnspecifiedMatching DOID:10439 Mooren's ulcer oboInOwl:hasDbXref UMLS_CUI:C0155072 semapv:UnspecifiedMatching -DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155071 semapv:UnspecifiedMatching DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.06 semapv:UnspecifiedMatching DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref ICD9CM:370.05 semapv:UnspecifiedMatching +DOID:10440 mycotic corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155071 semapv:UnspecifiedMatching DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155067 semapv:UnspecifiedMatching -DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref ICD9CM:370.01 semapv:UnspecifiedMatching DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.04 semapv:UnspecifiedMatching -DOID:10442 hypopyon ulcer oboInOwl:hasDbXref UMLS_CUI:C0155070 semapv:UnspecifiedMatching +DOID:10441 marginal corneal ulcer oboInOwl:hasDbXref ICD9CM:370.01 semapv:UnspecifiedMatching DOID:10442 hypopyon ulcer oboInOwl:hasDbXref ICD10CM:H16.03 semapv:UnspecifiedMatching DOID:10442 hypopyon ulcer oboInOwl:hasDbXref ICD9CM:370.04 semapv:UnspecifiedMatching +DOID:10442 hypopyon ulcer oboInOwl:hasDbXref UMLS_CUI:C0155070 semapv:UnspecifiedMatching DOID:10443 hypopyon oboInOwl:hasDbXref ICD10CM:H20.05 semapv:UnspecifiedMatching DOID:10443 hypopyon oboInOwl:hasDbXref ICD9CM:364.05 semapv:UnspecifiedMatching DOID:10443 hypopyon oboInOwl:hasDbXref NCI:C50593 semapv:UnspecifiedMatching @@ -12768,15 +12794,15 @@ DOID:10443 hypopyon oboInOwl:hasDbXref UMLS_CUI:C0020641 semapv:UnspecifiedMatch DOID:10444 ring corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.02 semapv:UnspecifiedMatching DOID:10444 ring corneal ulcer oboInOwl:hasDbXref ICD9CM:370.02 semapv:UnspecifiedMatching DOID:10444 ring corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155068 semapv:UnspecifiedMatching -DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.07 semapv:UnspecifiedMatching DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref ICD9CM:370.06 semapv:UnspecifiedMatching +DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.07 semapv:UnspecifiedMatching DOID:10445 perforated corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0151844 semapv:UnspecifiedMatching -DOID:10456 tonsillitis oboInOwl:hasDbXref MESH:D014069 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref UMLS_CUI:C0149517 semapv:UnspecifiedMatching +DOID:10456 tonsillitis oboInOwl:hasDbXref NCI:C116006 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref UMLS_CUI:C0040425 semapv:UnspecifiedMatching -DOID:10456 tonsillitis oboInOwl:hasDbXref ICD10CM:J35.01 semapv:UnspecifiedMatching DOID:10456 tonsillitis oboInOwl:hasDbXref ICD9CM:474.00 semapv:UnspecifiedMatching -DOID:10456 tonsillitis oboInOwl:hasDbXref NCI:C116006 semapv:UnspecifiedMatching +DOID:10456 tonsillitis oboInOwl:hasDbXref ICD10CM:J35.01 semapv:UnspecifiedMatching +DOID:10456 tonsillitis oboInOwl:hasDbXref MESH:D014069 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref ICD10CM:A48.1 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref ICD9CM:482.84 semapv:UnspecifiedMatching DOID:10457 Legionnaires' disease oboInOwl:hasDbXref MESH:D007877 semapv:UnspecifiedMatching @@ -12785,344 +12811,344 @@ DOID:10457 Legionnaires' disease oboInOwl:hasDbXref UMLS_CUI:C0023241 semapv:Uns DOID:10458 legionellosis oboInOwl:hasDbXref MESH:D007876 semapv:UnspecifiedMatching DOID:10458 legionellosis oboInOwl:hasDbXref NCI:C128334 semapv:UnspecifiedMatching DOID:10458 legionellosis oboInOwl:hasDbXref UMLS_CUI:C0023240 semapv:UnspecifiedMatching -DOID:10459 common cold oboInOwl:hasDbXref NCI:C34500 semapv:UnspecifiedMatching DOID:10459 common cold oboInOwl:hasDbXref UMLS_CUI:C0009443 semapv:UnspecifiedMatching -DOID:10459 common cold oboInOwl:hasDbXref ICD9CM:460 semapv:UnspecifiedMatching -DOID:10459 common cold oboInOwl:hasDbXref ICD10CM:J00 semapv:UnspecifiedMatching DOID:10459 common cold oboInOwl:hasDbXref MESH:D003139 semapv:UnspecifiedMatching -DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD10CM:J00 semapv:UnspecifiedMatching +DOID:10459 common cold oboInOwl:hasDbXref NCI:C34500 semapv:UnspecifiedMatching +DOID:10459 common cold oboInOwl:hasDbXref ICD10CM:J00 semapv:UnspecifiedMatching +DOID:10459 common cold oboInOwl:hasDbXref ICD9CM:460 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD10CM:J31.1 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD9CM:472.2 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref MESH:D009304 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref NCI:C34837 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref UMLS_CUI:C0027441 semapv:UnspecifiedMatching DOID:10460 nasopharyngitis oboInOwl:hasDbXref UMLS_CUI:C0155826 semapv:UnspecifiedMatching +DOID:10460 nasopharyngitis oboInOwl:hasDbXref ICD10CM:J00 semapv:UnspecifiedMatching DOID:10461 dentin caries oboInOwl:hasDbXref ICD10CM:K02 semapv:UnspecifiedMatching DOID:10461 dentin caries oboInOwl:hasDbXref ICD9CM:521.02 semapv:UnspecifiedMatching DOID:10461 dentin caries oboInOwl:hasDbXref UMLS_CUI:C0266846 semapv:UnspecifiedMatching DOID:10471 patellar tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158317 semapv:UnspecifiedMatching DOID:10471 patellar tendinitis oboInOwl:hasDbXref ICD10CM:M76.5 semapv:UnspecifiedMatching DOID:10471 patellar tendinitis oboInOwl:hasDbXref ICD9CM:726.64 semapv:UnspecifiedMatching +DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref UMLS_CUI:C0011981 semapv:UnspecifiedMatching +DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref NCI:C98912 semapv:UnspecifiedMatching DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref ICD10CM:Q79.1 semapv:UnspecifiedMatching DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref MESH:D003965 semapv:UnspecifiedMatching -DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref NCI:C98912 semapv:UnspecifiedMatching -DOID:10480 diaphragmatic eventration oboInOwl:hasDbXref UMLS_CUI:C0011981 semapv:UnspecifiedMatching DOID:10481 diaphragm disease oboInOwl:hasDbXref ICD10CM:J98.6 semapv:UnspecifiedMatching DOID:10481 diaphragm disease oboInOwl:hasDbXref ICD9CM:519.4 semapv:UnspecifiedMatching DOID:10481 diaphragm disease oboInOwl:hasDbXref UMLS_CUI:C0152097 semapv:UnspecifiedMatching +DOID:10485 esophageal atresia oboInOwl:hasDbXref NCI:C87072 semapv:UnspecifiedMatching +DOID:10485 esophageal atresia oboInOwl:hasDbXref MESH:D004933 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref UMLS_CUI:C0014850 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref GARD:6381 semapv:UnspecifiedMatching DOID:10485 esophageal atresia oboInOwl:hasDbXref ICD10CM:Q39.0 semapv:UnspecifiedMatching -DOID:10485 esophageal atresia oboInOwl:hasDbXref MESH:D004933 semapv:UnspecifiedMatching -DOID:10485 esophageal atresia oboInOwl:hasDbXref NCI:C87072 semapv:UnspecifiedMatching -DOID:10486 intestinal atresia oboInOwl:hasDbXref UMLS_CUI:C0021828 semapv:UnspecifiedMatching -DOID:10486 intestinal atresia oboInOwl:hasDbXref NCI:C84790 semapv:UnspecifiedMatching DOID:10486 intestinal atresia oboInOwl:hasDbXref ICD10CM:Q41.1 semapv:UnspecifiedMatching DOID:10486 intestinal atresia oboInOwl:hasDbXref MESH:D007409 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref GARD:6660 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ICD10CM:Q43.1 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref NCI:C34700 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:600156 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606874 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606875 semapv:UnspecifiedMatching +DOID:10486 intestinal atresia oboInOwl:hasDbXref NCI:C84790 semapv:UnspecifiedMatching +DOID:10486 intestinal atresia oboInOwl:hasDbXref UMLS_CUI:C0021828 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:608462 semapv:UnspecifiedMatching -DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:611644 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ORDO:388 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:611644 semapv:UnspecifiedMatching DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref UMLS_CUI:C0019569 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606875 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref MESH:D006627 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:600156 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref NCI:C34700 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref ICD10CM:Q43.1 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref GARD:6660 semapv:UnspecifiedMatching +DOID:10487 Hirschsprung's disease oboInOwl:hasDbXref OMIM:606874 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref UMLS_CUI:C0003466 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:301800 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:207500 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref MESH:D001006 semapv:UnspecifiedMatching -DOID:10488 imperforate anus oboInOwl:hasDbXref ICD10CM:Q42.3 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref GARD:6769 semapv:UnspecifiedMatching +DOID:10488 imperforate anus oboInOwl:hasDbXref ICD10CM:Q42.3 semapv:UnspecifiedMatching +DOID:10488 imperforate anus oboInOwl:hasDbXref MESH:D001006 semapv:UnspecifiedMatching DOID:10488 imperforate anus oboInOwl:hasDbXref NCI:C84784 semapv:UnspecifiedMatching -DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref ICD9CM:255.4 semapv:UnspecifiedMatching +DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:207500 semapv:UnspecifiedMatching +DOID:10488 imperforate anus oboInOwl:hasDbXref OMIM:301800 semapv:UnspecifiedMatching DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref NCI:C26691 semapv:UnspecifiedMatching DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref UMLS_CUI:C0405580 semapv:UnspecifiedMatching +DOID:10493 adrenal cortical hypofunction oboInOwl:hasDbXref ICD9CM:255.4 semapv:UnspecifiedMatching +DOID:10499 orbital granuloma oboInOwl:hasDbXref UMLS_CUI:C0155262 semapv:UnspecifiedMatching +DOID:10499 orbital granuloma oboInOwl:hasDbXref NCI:C3653 semapv:UnspecifiedMatching DOID:10499 orbital granuloma oboInOwl:hasDbXref ICD10CM:H05.11 semapv:UnspecifiedMatching DOID:10499 orbital granuloma oboInOwl:hasDbXref ICD9CM:376.11 semapv:UnspecifiedMatching -DOID:10499 orbital granuloma oboInOwl:hasDbXref NCI:C3653 semapv:UnspecifiedMatching -DOID:10499 orbital granuloma oboInOwl:hasDbXref UMLS_CUI:C0155262 semapv:UnspecifiedMatching -DOID:10507 Dressler's syndrome oboInOwl:hasDbXref UMLS_CUI:C0152107 semapv:UnspecifiedMatching DOID:10507 Dressler's syndrome oboInOwl:hasDbXref ICD10CM:I24.1 semapv:UnspecifiedMatching DOID:10507 Dressler's syndrome oboInOwl:hasDbXref ICD9CM:411.0 semapv:UnspecifiedMatching +DOID:10507 Dressler's syndrome oboInOwl:hasDbXref UMLS_CUI:C0152107 semapv:UnspecifiedMatching +DOID:10516 malignant otitis externa oboInOwl:hasDbXref ICD10CM:H60.2 semapv:UnspecifiedMatching DOID:10516 malignant otitis externa oboInOwl:hasDbXref ICD9CM:380.14 semapv:UnspecifiedMatching DOID:10516 malignant otitis externa oboInOwl:hasDbXref UMLS_CUI:C0155395 semapv:UnspecifiedMatching -DOID:10516 malignant otitis externa oboInOwl:hasDbXref ICD10CM:H60.2 semapv:UnspecifiedMatching DOID:10518 beach ear oboInOwl:hasDbXref ICD9CM:380.12 semapv:UnspecifiedMatching DOID:10518 beach ear oboInOwl:hasDbXref UMLS_CUI:C3831782 semapv:UnspecifiedMatching -DOID:10519 chronic fungal otitis externa oboInOwl:hasDbXref ICD9CM:380.15 semapv:UnspecifiedMatching DOID:10519 chronic fungal otitis externa oboInOwl:hasDbXref UMLS_CUI:C0155396 semapv:UnspecifiedMatching -DOID:10520 acute infection of pinna oboInOwl:hasDbXref ICD9CM:380.11 semapv:UnspecifiedMatching +DOID:10519 chronic fungal otitis externa oboInOwl:hasDbXref ICD9CM:380.15 semapv:UnspecifiedMatching DOID:10520 acute infection of pinna oboInOwl:hasDbXref UMLS_CUI:C0155392 semapv:UnspecifiedMatching +DOID:10520 acute infection of pinna oboInOwl:hasDbXref ICD9CM:380.11 semapv:UnspecifiedMatching DOID:10525 double pterygium oboInOwl:hasDbXref ICD9CM:372.44 semapv:UnspecifiedMatching DOID:10525 double pterygium oboInOwl:hasDbXref UMLS_CUI:C0155157 semapv:UnspecifiedMatching -DOID:10533 viral pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032310 semapv:UnspecifiedMatching -DOID:10533 viral pneumonia oboInOwl:hasDbXref MESH:D011024 semapv:UnspecifiedMatching -DOID:10533 viral pneumonia oboInOwl:hasDbXref ICD9CM:480 semapv:UnspecifiedMatching DOID:10533 viral pneumonia oboInOwl:hasDbXref ICD10CM:J12.9 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153421 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0038356 semapv:UnspecifiedMatching +DOID:10533 viral pneumonia oboInOwl:hasDbXref ICD9CM:480 semapv:UnspecifiedMatching +DOID:10533 viral pneumonia oboInOwl:hasDbXref MESH:D011024 semapv:UnspecifiedMatching +DOID:10533 viral pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032310 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0024623 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref OMIM:613659 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0038356 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref NCI:C9331 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153422 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153423 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153421 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref NCI:C3387 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref MESH:D013274 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151.6 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153422 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151.5 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151.4 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16.6 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16.5 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref UMLS_CUI:C0153423 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16.2 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16 semapv:UnspecifiedMatching DOID:10534 stomach cancer oboInOwl:hasDbXref GARD:7704 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151.5 semapv:UnspecifiedMatching -DOID:10534 stomach cancer oboInOwl:hasDbXref ICD10CM:C16.2 semapv:UnspecifiedMatching -DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334585 semapv:UnspecifiedMatching +DOID:10534 stomach cancer oboInOwl:hasDbXref ICD9CM:151.6 semapv:UnspecifiedMatching DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref NCI:C5484 semapv:UnspecifiedMatching +DOID:10536 malignant gastric granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334585 semapv:UnspecifiedMatching +DOID:10538 gastric fundus cancer oboInOwl:hasDbXref UMLS_CUI:C0153420 semapv:UnspecifiedMatching DOID:10538 gastric fundus cancer oboInOwl:hasDbXref ICD10CM:C16.1 semapv:UnspecifiedMatching DOID:10538 gastric fundus cancer oboInOwl:hasDbXref ICD9CM:151.3 semapv:UnspecifiedMatching -DOID:10538 gastric fundus cancer oboInOwl:hasDbXref UMLS_CUI:C0153420 semapv:UnspecifiedMatching -DOID:10540 gastric lymphoma oboInOwl:hasDbXref GARD:6485 semapv:UnspecifiedMatching -DOID:10540 gastric lymphoma oboInOwl:hasDbXref NCI:C4636 semapv:UnspecifiedMatching DOID:10540 gastric lymphoma oboInOwl:hasDbXref UMLS_CUI:C0349532 semapv:UnspecifiedMatching +DOID:10540 gastric lymphoma oboInOwl:hasDbXref NCI:C4636 semapv:UnspecifiedMatching +DOID:10540 gastric lymphoma oboInOwl:hasDbXref GARD:6485 semapv:UnspecifiedMatching DOID:10541 microinvasive gastric cancer oboInOwl:hasDbXref NCI:C27131 semapv:UnspecifiedMatching DOID:10541 microinvasive gastric cancer oboInOwl:hasDbXref UMLS_CUI:C0349530 semapv:UnspecifiedMatching DOID:10544 pylorus cancer oboInOwl:hasDbXref ICD10CM:C16.4 semapv:UnspecifiedMatching DOID:10544 pylorus cancer oboInOwl:hasDbXref ICD9CM:151.1 semapv:UnspecifiedMatching DOID:10544 pylorus cancer oboInOwl:hasDbXref UMLS_CUI:C0153418 semapv:UnspecifiedMatching +DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref ICD10CM:C16.3 semapv:UnspecifiedMatching DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref ICD9CM:151.2 semapv:UnspecifiedMatching DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref UMLS_CUI:C0153419 semapv:UnspecifiedMatching -DOID:10547 pyloric antrum cancer oboInOwl:hasDbXref ICD10CM:C16.3 semapv:UnspecifiedMatching -DOID:10548 cardia cancer oboInOwl:hasDbXref ICD10CM:C16.0 semapv:UnspecifiedMatching DOID:10548 cardia cancer oboInOwl:hasDbXref ICD9CM:151.0 semapv:UnspecifiedMatching +DOID:10548 cardia cancer oboInOwl:hasDbXref ICD10CM:C16.0 semapv:UnspecifiedMatching DOID:10548 cardia cancer oboInOwl:hasDbXref UMLS_CUI:C0153417 semapv:UnspecifiedMatching -DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref ICD10CM:H68.01 semapv:UnspecifiedMatching DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref ICD9CM:381.51 semapv:UnspecifiedMatching +DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref ICD10CM:H68.01 semapv:UnspecifiedMatching DOID:10550 acute eustachian salpingitis oboInOwl:hasDbXref UMLS_CUI:C0155429 semapv:UnspecifiedMatching -DOID:10554 meningoencephalitis oboInOwl:hasDbXref ICD10CM:A69.22 semapv:UnspecifiedMatching DOID:10554 meningoencephalitis oboInOwl:hasDbXref MESH:D008590 semapv:UnspecifiedMatching DOID:10554 meningoencephalitis oboInOwl:hasDbXref NCI:C34813 semapv:UnspecifiedMatching +DOID:10554 meningoencephalitis oboInOwl:hasDbXref ICD10CM:A69.22 semapv:UnspecifiedMatching DOID:10554 meningoencephalitis oboInOwl:hasDbXref UMLS_CUI:C0025309 semapv:UnspecifiedMatching DOID:10556 supine hypotensive syndrome oboInOwl:hasDbXref UMLS_CUI:C0157456 semapv:UnspecifiedMatching DOID:10556 supine hypotensive syndrome oboInOwl:hasDbXref ICD9CM:669.20 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ORDO:534 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0028860 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref NCI:C84940 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref GARD:3295 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ICD10CM:E72.03 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref MEDDRA:10051707 semapv:UnspecifiedMatching DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref MESH:D009800 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ICD10CM:E72.03 semapv:UnspecifiedMatching -DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref GARD:3295 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.1 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.4 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref NCI:C84940 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref OMIM:309000 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref ORDO:534 semapv:UnspecifiedMatching +DOID:1056 oculocerebrorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0028860 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C1517744 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C0276007 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C0153234 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref NCI:C41354 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD9CM:102.1 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.4 semapv:UnspecifiedMatching +DOID:10567 late yaws oboInOwl:hasDbXref ICD10CM:A66.1 semapv:UnspecifiedMatching DOID:10567 late yaws oboInOwl:hasDbXref ICD9CM:102.4 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref NCI:C41354 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C0153234 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C0276007 semapv:UnspecifiedMatching -DOID:10567 late yaws oboInOwl:hasDbXref UMLS_CUI:C1517744 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0343834 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0275998 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0275990 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref NCI:C41352 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref ICD9CM:102.6 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref ICD9CM:102.0 semapv:UnspecifiedMatching -DOID:10568 early yaws oboInOwl:hasDbXref ICD10CM:A66.6 semapv:UnspecifiedMatching DOID:10568 early yaws oboInOwl:hasDbXref ICD10CM:A66.0 semapv:UnspecifiedMatching -DOID:10573 osteomalacia oboInOwl:hasDbXref GARD:7285 semapv:UnspecifiedMatching -DOID:10573 osteomalacia oboInOwl:hasDbXref ICD9CM:268.2 semapv:UnspecifiedMatching -DOID:10573 osteomalacia oboInOwl:hasDbXref NCI:C26838 semapv:UnspecifiedMatching -DOID:10573 osteomalacia oboInOwl:hasDbXref UMLS_CUI:C0029442 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref ICD10CM:A66.6 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref ICD9CM:102.0 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref ICD9CM:102.6 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref NCI:C41352 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0275990 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0275998 semapv:UnspecifiedMatching +DOID:10568 early yaws oboInOwl:hasDbXref UMLS_CUI:C0343834 semapv:UnspecifiedMatching DOID:10573 osteomalacia skos:exactMatch MESH:D010018 semapv:UnspecifiedMatching +DOID:10573 osteomalacia oboInOwl:hasDbXref UMLS_CUI:C0029442 semapv:UnspecifiedMatching +DOID:10573 osteomalacia oboInOwl:hasDbXref NCI:C26838 semapv:UnspecifiedMatching +DOID:10573 osteomalacia oboInOwl:hasDbXref ICD9CM:268.2 semapv:UnspecifiedMatching +DOID:10573 osteomalacia oboInOwl:hasDbXref GARD:7285 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref ICD10CM:E83.5 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref ICD9CM:275.4 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref MESH:D002128 semapv:UnspecifiedMatching DOID:10575 calcium metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0006705 semapv:UnspecifiedMatching -DOID:10579 leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023520 semapv:UnspecifiedMatching -DOID:10579 leukodystrophy oboInOwl:hasDbXref ICD9CM:330.0 semapv:UnspecifiedMatching DOID:10579 leukodystrophy oboInOwl:hasDbXref GARD:6895 semapv:UnspecifiedMatching +DOID:10579 leukodystrophy oboInOwl:hasDbXref ICD9CM:330.0 semapv:UnspecifiedMatching DOID:10579 leukodystrophy oboInOwl:hasDbXref NCI:C61253 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref GARD:3230 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ICD10CM:E75.25 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref NCI:C61251 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching -DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ORDO:512 semapv:UnspecifiedMatching +DOID:10579 leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023520 semapv:UnspecifiedMatching DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023522 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref UMLS_CUI:C0034960 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref ORDO:773 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ORDO:512 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:250100 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref OMIM:249900 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref NCI:C61251 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref MESH:D007966 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref ICD10CM:E75.25 semapv:UnspecifiedMatching +DOID:10581 metachromatic leukodystrophy oboInOwl:hasDbXref GARD:3230 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref GARD:5691 semapv:UnspecifiedMatching -DOID:10582 Refsum disease oboInOwl:hasDbXref ICD9CM:356.3 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref ICD10CM:G60.1 semapv:UnspecifiedMatching +DOID:10582 Refsum disease oboInOwl:hasDbXref ICD9CM:356.3 semapv:UnspecifiedMatching +DOID:10582 Refsum disease oboInOwl:hasDbXref MESH:D012035 semapv:UnspecifiedMatching DOID:10582 Refsum disease oboInOwl:hasDbXref NCI:C85043 semapv:UnspecifiedMatching -DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref OMIMPS:268000 semapv:UnspecifiedMatching +DOID:10582 Refsum disease oboInOwl:hasDbXref OMIM:266500 semapv:UnspecifiedMatching +DOID:10582 Refsum disease oboInOwl:hasDbXref ORDO:773 semapv:UnspecifiedMatching +DOID:10582 Refsum disease oboInOwl:hasDbXref UMLS_CUI:C0034960 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref ORDO:791 semapv:UnspecifiedMatching +DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref OMIMPS:268000 semapv:UnspecifiedMatching +DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0220701 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref NCI:C85045 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0035334 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref MESH:C538365 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.52 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref GARD:5694 semapv:UnspecifiedMatching DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref MESH:D012174 semapv:UnspecifiedMatching -DOID:10584 retinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0220701 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref UMLS_CUI:C0023521 semapv:UnspecifiedMatching -DOID:10587 Krabbe disease oboInOwl:hasDbXref NCI:C61254 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref OMIM:245200 semapv:UnspecifiedMatching +DOID:10587 Krabbe disease oboInOwl:hasDbXref NCI:C61254 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref ICD10CM:E75.23 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref GARD:6844 semapv:UnspecifiedMatching DOID:10587 Krabbe disease oboInOwl:hasDbXref MESH:D007965 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy skos:exactMatch MESH:D000326 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0162309 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching -DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref ICD10CM:E71.52 semapv:UnspecifiedMatching +DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref MESH:D000326 semapv:UnspecifiedMatching DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref NCI:C61252 semapv:UnspecifiedMatching +DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching +DOID:10588 adrenoleukodystrophy oboInOwl:hasDbXref UMLS_CUI:C0162309 semapv:UnspecifiedMatching +DOID:10588 adrenoleukodystrophy skos:exactMatch MESH:D000326 semapv:UnspecifiedMatching DOID:1059 intellectual disability oboInOwl:hasDbXref NCI:C84392 semapv:UnspecifiedMatching DOID:1059 intellectual disability oboInOwl:hasDbXref UMLS_CUI:C0025362 semapv:UnspecifiedMatching DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref ICD9CM:642.40 semapv:UnspecifiedMatching DOID:10590 mild pre-eclampsia oboInOwl:hasDbXref UMLS_CUI:C0156664 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref UMLS_CUI:C0032914 semapv:UnspecifiedMatching +DOID:10591 pre-eclampsia oboInOwl:hasDbXref ORDO:275555 semapv:UnspecifiedMatching +DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609404 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609403 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609402 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref ORDO:275555 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref NCI:C85021 semapv:UnspecifiedMatching +DOID:10591 pre-eclampsia oboInOwl:hasDbXref MESH:D011225 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:189800 semapv:UnspecifiedMatching +DOID:10591 pre-eclampsia oboInOwl:hasDbXref NCI:C85021 semapv:UnspecifiedMatching DOID:10591 pre-eclampsia oboInOwl:hasDbXref ICD10CM:O14 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching -DOID:10591 pre-eclampsia oboInOwl:hasDbXref MESH:D011225 semapv:UnspecifiedMatching +DOID:10591 pre-eclampsia oboInOwl:hasDbXref OMIM:609402 semapv:UnspecifiedMatching DOID:10593 idiopathic progressive polyneuropathy oboInOwl:hasDbXref ICD9CM:356.4 semapv:UnspecifiedMatching DOID:10593 idiopathic progressive polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0154756 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref GARD:6034 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD9CM:356.1 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref NCI:C75467 semapv:UnspecifiedMatching -DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref OMIMPS:118220 semapv:UnspecifiedMatching +DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS_CUI:C0007959 semapv:UnspecifiedMatching DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching +DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref ICD9CM:356.1 semapv:UnspecifiedMatching +DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref OMIMPS:118220 semapv:UnspecifiedMatching +DOID:10595 Charcot-Marie-Tooth disease oboInOwl:hasDbXref GARD:6034 semapv:UnspecifiedMatching +DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD10CM:A15.6 semapv:UnspecifiedMatching +DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:010.1 semapv:UnspecifiedMatching +DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:012.0 semapv:UnspecifiedMatching +DOID:106 pleural tuberculosis oboInOwl:hasDbXref MESH:D014396 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref NCI:C26898 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041326 semapv:UnspecifiedMatching DOID:106 pleural tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152531 semapv:UnspecifiedMatching -DOID:106 pleural tuberculosis oboInOwl:hasDbXref MESH:D014396 semapv:UnspecifiedMatching -DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:010.1 semapv:UnspecifiedMatching -DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD10CM:A15.6 semapv:UnspecifiedMatching -DOID:106 pleural tuberculosis oboInOwl:hasDbXref ICD9CM:012.0 semapv:UnspecifiedMatching +DOID:1060 Hartnup disease oboInOwl:hasDbXref UMLS_CUI:C0018609 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref GARD:6569 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref ICD10CM:E72.02 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref MESH:D006250 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref NCI:C84748 semapv:UnspecifiedMatching DOID:1060 Hartnup disease oboInOwl:hasDbXref OMIM:234500 semapv:UnspecifiedMatching -DOID:1060 Hartnup disease oboInOwl:hasDbXref UMLS_CUI:C0018609 semapv:UnspecifiedMatching +DOID:10600 chronic tic disorder oboInOwl:hasDbXref UMLS_CUI:C0008701 semapv:UnspecifiedMatching +DOID:10600 chronic tic disorder oboInOwl:hasDbXref NCI:C116768 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref ICD10CM:F95.1 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref ICD9CM:307.22 semapv:UnspecifiedMatching DOID:10600 chronic tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching -DOID:10600 chronic tic disorder oboInOwl:hasDbXref NCI:C116768 semapv:UnspecifiedMatching -DOID:10600 chronic tic disorder oboInOwl:hasDbXref UMLS_CUI:C0008701 semapv:UnspecifiedMatching -DOID:10603 glucose intolerance oboInOwl:hasDbXref UMLS_CUI:C0271650 semapv:UnspecifiedMatching -DOID:10603 glucose intolerance oboInOwl:hasDbXref NCI:C34646 semapv:UnspecifiedMatching DOID:10603 glucose intolerance oboInOwl:hasDbXref ICD10CM:R73.03 semapv:UnspecifiedMatching DOID:10603 glucose intolerance oboInOwl:hasDbXref MESH:D018149 semapv:UnspecifiedMatching +DOID:10603 glucose intolerance oboInOwl:hasDbXref NCI:C34646 semapv:UnspecifiedMatching +DOID:10603 glucose intolerance oboInOwl:hasDbXref UMLS_CUI:C0271650 semapv:UnspecifiedMatching +DOID:10604 lactose intolerance skos:exactMatch MESH:D007787 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref ICD10CM:E73 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref MESH:D007787 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref NCI:C3154 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref OMIM:223100 semapv:UnspecifiedMatching DOID:10604 lactose intolerance oboInOwl:hasDbXref UMLS_CUI:C0022951 semapv:UnspecifiedMatching -DOID:10604 lactose intolerance skos:exactMatch MESH:D007787 semapv:UnspecifiedMatching -DOID:10605 short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching -DOID:10605 short bowel syndrome oboInOwl:hasDbXref NCI:C99059 semapv:UnspecifiedMatching DOID:10605 short bowel syndrome oboInOwl:hasDbXref UMLS_CUI:C0036992 semapv:UnspecifiedMatching -DOID:10606 blind loop syndrome oboInOwl:hasDbXref UMLS_CUI:C0005750 semapv:UnspecifiedMatching -DOID:10606 blind loop syndrome oboInOwl:hasDbXref MESH:D001765 semapv:UnspecifiedMatching -DOID:10606 blind loop syndrome oboInOwl:hasDbXref NCI:C34431 semapv:UnspecifiedMatching +DOID:10605 short bowel syndrome oboInOwl:hasDbXref NCI:C99059 semapv:UnspecifiedMatching +DOID:10605 short bowel syndrome oboInOwl:hasDbXref MESH:D012778 semapv:UnspecifiedMatching DOID:10606 blind loop syndrome oboInOwl:hasDbXref ICD10CM:K90.2 semapv:UnspecifiedMatching DOID:10606 blind loop syndrome oboInOwl:hasDbXref ICD9CM:579.2 semapv:UnspecifiedMatching +DOID:10606 blind loop syndrome oboInOwl:hasDbXref MESH:D001765 semapv:UnspecifiedMatching +DOID:10606 blind loop syndrome oboInOwl:hasDbXref NCI:C34431 semapv:UnspecifiedMatching +DOID:10606 blind loop syndrome oboInOwl:hasDbXref UMLS_CUI:C0005750 semapv:UnspecifiedMatching +DOID:10607 tropical sprue oboInOwl:hasDbXref MESH:D013182 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref GARD:7824 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref ICD10CM:K90.1 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref ICD9CM:579.1 semapv:UnspecifiedMatching -DOID:10607 tropical sprue oboInOwl:hasDbXref MESH:D013182 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref NCI:C45428 semapv:UnspecifiedMatching DOID:10607 tropical sprue oboInOwl:hasDbXref UMLS_CUI:C0038054 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref UMLS_CUI:C0007570 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612007 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612008 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref ORDO:555 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612011 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612009 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612008 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612007 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref UMLS_CUI:C0007570 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612006 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612009 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:612005 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref NCI:C26714 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref ICD9CM:579.0 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:609754 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:607202 semapv:UnspecifiedMatching +DOID:10608 celiac disease oboInOwl:hasDbXref NCI:C26714 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref MESH:D002446 semapv:UnspecifiedMatching -DOID:10608 celiac disease oboInOwl:hasDbXref ICD9CM:579.0 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref ICD10CM:K90.0 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref GARD:11998 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref EFO:0001060 semapv:UnspecifiedMatching DOID:10608 celiac disease oboInOwl:hasDbXref OMIM:611598 semapv:UnspecifiedMatching +DOID:10609 rickets skos:exactMatch MESH:D012279 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref UMLS_CUI:C0035579 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref NCI:C26878 semapv:UnspecifiedMatching -DOID:10609 rickets skos:exactMatch MESH:D012279 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref ICD10CM:E55.0 semapv:UnspecifiedMatching -DOID:10609 rickets oboInOwl:hasDbXref MESH:D012279 semapv:UnspecifiedMatching DOID:10609 rickets oboInOwl:hasDbXref GARD:5700 semapv:UnspecifiedMatching +DOID:10609 rickets oboInOwl:hasDbXref MESH:D012279 semapv:UnspecifiedMatching DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref ICD10CM:K90.3 semapv:UnspecifiedMatching DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref ICD9CM:579.4 semapv:UnspecifiedMatching DOID:10610 pancreatic steatorrhea oboInOwl:hasDbXref UMLS_CUI:C0152166 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref MESH:D011504 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref OMIM:226300 semapv:UnspecifiedMatching DOID:10611 protein-losing enteropathy oboInOwl:hasDbXref UMLS_CUI:C0033680 semapv:UnspecifiedMatching -DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD10CM:L50.0 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD9CM:708.0 semapv:UnspecifiedMatching DOID:10612 allergic urticaria oboInOwl:hasDbXref UMLS_CUI:C0149526 semapv:UnspecifiedMatching +DOID:10612 allergic urticaria oboInOwl:hasDbXref ICD10CM:L50.0 semapv:UnspecifiedMatching DOID:10615 acute gonococcal cervicitis oboInOwl:hasDbXref ICD9CM:098.15 semapv:UnspecifiedMatching DOID:10615 acute gonococcal cervicitis oboInOwl:hasDbXref UMLS_CUI:C0153195 semapv:UnspecifiedMatching -DOID:10616 acute cervicitis oboInOwl:hasDbXref UMLS_CUI:C0269061 semapv:UnspecifiedMatching DOID:10616 acute cervicitis oboInOwl:hasDbXref NCI:C27056 semapv:UnspecifiedMatching -DOID:10619 lymph node cancer oboInOwl:hasDbXref UMLS_CUI:C0596869 semapv:UnspecifiedMatching +DOID:10616 acute cervicitis oboInOwl:hasDbXref UMLS_CUI:C0269061 semapv:UnspecifiedMatching DOID:10619 lymph node cancer oboInOwl:hasDbXref GARD:6932 semapv:UnspecifiedMatching DOID:10619 lymph node cancer oboInOwl:hasDbXref NCI:C35497 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref GARD:9118 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref MESH:D005198 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C3034 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C4377 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref OMIMPS:134600 semapv:UnspecifiedMatching +DOID:10619 lymph node cancer oboInOwl:hasDbXref UMLS_CUI:C0596869 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref ORDO:3337 semapv:UnspecifiedMatching -DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0015624 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0341703 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0015624 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref OMIMPS:134600 semapv:UnspecifiedMatching DOID:1062 Fanconi syndrome skos:exactMatch MESH:D005198 semapv:UnspecifiedMatching -DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD10CM:H47.21 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C3034 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref MESH:D005198 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref GARD:9118 semapv:UnspecifiedMatching +DOID:1062 Fanconi syndrome oboInOwl:hasDbXref NCI:C4377 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD9CM:377.11 semapv:UnspecifiedMatching DOID:10627 primary optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0155291 semapv:UnspecifiedMatching +DOID:10627 primary optic atrophy oboInOwl:hasDbXref ICD10CM:H47.21 semapv:UnspecifiedMatching +DOID:10629 microphthalmia oboInOwl:hasDbXref UMLS_CUI:C0026010 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref NCI:C98989 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref MESH:D008850 semapv:UnspecifiedMatching -DOID:10629 microphthalmia oboInOwl:hasDbXref UMLS_CUI:C0026010 semapv:UnspecifiedMatching -DOID:10629 microphthalmia oboInOwl:hasDbXref ICD10CM:Q11.2 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref GARD:12085 semapv:UnspecifiedMatching +DOID:10629 microphthalmia oboInOwl:hasDbXref ICD10CM:Q11.2 semapv:UnspecifiedMatching DOID:10629 microphthalmia oboInOwl:hasDbXref ICD9CM:743.1 semapv:UnspecifiedMatching -DOID:1063 interstitial nephritis oboInOwl:hasDbXref UMLS_CUI:C0027707 semapv:UnspecifiedMatching -DOID:1063 interstitial nephritis oboInOwl:hasDbXref NCI:C26834 semapv:UnspecifiedMatching DOID:1063 interstitial nephritis oboInOwl:hasDbXref ICD10CM:N12 semapv:UnspecifiedMatching DOID:1063 interstitial nephritis oboInOwl:hasDbXref MESH:D009395 semapv:UnspecifiedMatching +DOID:1063 interstitial nephritis oboInOwl:hasDbXref NCI:C26834 semapv:UnspecifiedMatching +DOID:1063 interstitial nephritis oboInOwl:hasDbXref UMLS_CUI:C0027707 semapv:UnspecifiedMatching DOID:10631 partial optic atrophy oboInOwl:hasDbXref ICD9CM:377.15 semapv:UnspecifiedMatching DOID:10631 partial optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0155295 semapv:UnspecifiedMatching +DOID:10632 Wolfram syndrome oboInOwl:hasDbXref UMLS_CUI:C0043207 semapv:UnspecifiedMatching +DOID:10632 Wolfram syndrome oboInOwl:hasDbXref ORDO:3463 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref GARD:7898 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref MESH:D014929 semapv:UnspecifiedMatching DOID:10632 Wolfram syndrome oboInOwl:hasDbXref NCI:C35133 semapv:UnspecifiedMatching -DOID:10632 Wolfram syndrome oboInOwl:hasDbXref ORDO:3463 semapv:UnspecifiedMatching -DOID:10632 Wolfram syndrome oboInOwl:hasDbXref UMLS_CUI:C0043207 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref ORDO:213 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref UMLS_CUI:C2931187 semapv:UnspecifiedMatching +DOID:1064 cystinosis oboInOwl:hasDbXref ORDO:213 semapv:UnspecifiedMatching +DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching +DOID:1064 cystinosis oboInOwl:hasDbXref NCI:C129932 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref MESH:D003554 semapv:UnspecifiedMatching DOID:1064 cystinosis oboInOwl:hasDbXref GARD:6236 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref NCI:C129932 semapv:UnspecifiedMatching -DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatching +DOID:1064 cystinosis oboInOwl:hasDbXref OMIM:219750 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref ICD10CM:F21 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref ICD9CM:301.22 semapv:UnspecifiedMatching DOID:10646 schizotypal personality disorder oboInOwl:hasDbXref MESH:D012569 semapv:UnspecifiedMatching @@ -13134,14 +13160,14 @@ DOID:10649 acute inferolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI DOID:10649 acute inferolateral myocardial infarction oboInOwl:hasDbXref ICD9CM:410.20 semapv:UnspecifiedMatching DOID:10651 acute anterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155627 semapv:UnspecifiedMatching DOID:10651 acute anterolateral myocardial infarction oboInOwl:hasDbXref ICD9CM:410.0 semapv:UnspecifiedMatching -DOID:10652 Alzheimer's disease oboInOwl:hasDbXref UMLS_CUI:C0002395 semapv:UnspecifiedMatching -DOID:10652 Alzheimer's disease oboInOwl:hasDbXref NCI:C2866 semapv:UnspecifiedMatching -DOID:10652 Alzheimer's disease oboInOwl:hasDbXref MESH:D000544 semapv:UnspecifiedMatching -DOID:10652 Alzheimer's disease oboInOwl:hasDbXref KEGG:05010 semapv:UnspecifiedMatching +DOID:10652 Alzheimer's disease oboInOwl:hasDbXref EFO:0000249 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref GARD:10254 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref ICD10CM:G30 semapv:UnspecifiedMatching -DOID:10652 Alzheimer's disease oboInOwl:hasDbXref EFO:0000249 semapv:UnspecifiedMatching DOID:10652 Alzheimer's disease oboInOwl:hasDbXref ICD9CM:331.0 semapv:UnspecifiedMatching +DOID:10652 Alzheimer's disease oboInOwl:hasDbXref KEGG:05010 semapv:UnspecifiedMatching +DOID:10652 Alzheimer's disease oboInOwl:hasDbXref MESH:D000544 semapv:UnspecifiedMatching +DOID:10652 Alzheimer's disease oboInOwl:hasDbXref NCI:C2866 semapv:UnspecifiedMatching +DOID:10652 Alzheimer's disease oboInOwl:hasDbXref UMLS_CUI:C0002395 semapv:UnspecifiedMatching DOID:10655 lipoma of colon oboInOwl:hasDbXref NCI:C5493 semapv:UnspecifiedMatching DOID:10655 lipoma of colon oboInOwl:hasDbXref UMLS_CUI:C0940607 semapv:UnspecifiedMatching DOID:10656 colon leiomyoma oboInOwl:hasDbXref NCI:C5492 semapv:UnspecifiedMatching @@ -13156,35 +13182,35 @@ DOID:10660 mediastinum neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1334673 semapv DOID:10661 mediastinum ganglioneuroblastoma oboInOwl:hasDbXref NCI:C6627 semapv:UnspecifiedMatching DOID:10661 mediastinum ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1334653 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:608696 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:609887 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:613100 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017612 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:608695 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:613100 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611276 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:606689 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:611274 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:610535 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:609887 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:609745 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:602429 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref EFO:0004190 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.1 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.1 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref MESH:D005902 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:608695 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:603383 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:602429 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:177700 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching DOID:1067 open-angle glaucoma oboInOwl:hasDbXref NCI:C34641 semapv:UnspecifiedMatching -DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:177700 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref MESH:D005902 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.1 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.1 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref EFO:0004190 semapv:UnspecifiedMatching +DOID:1067 open-angle glaucoma oboInOwl:hasDbXref OMIM:606689 semapv:UnspecifiedMatching DOID:1068 juvenile glaucoma oboInOwl:hasDbXref OMIM:137750 semapv:UnspecifiedMatching DOID:1068 juvenile glaucoma oboInOwl:hasDbXref ORDO:98977 semapv:UnspecifiedMatching +DOID:10686 lactocele oboInOwl:hasDbXref UMLS_CUI:C0152243 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref NCI:C3515 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref MESH:C535998 semapv:UnspecifiedMatching -DOID:10686 lactocele oboInOwl:hasDbXref UMLS_CUI:C0152243 semapv:UnspecifiedMatching -DOID:10686 lactocele oboInOwl:hasDbXref ICD10CM:N64.89 semapv:UnspecifiedMatching DOID:10686 lactocele oboInOwl:hasDbXref ICD9CM:611.5 semapv:UnspecifiedMatching -DOID:10688 hypertrophy of breast oboInOwl:hasDbXref UMLS_CUI:C0020565 semapv:UnspecifiedMatching -DOID:10688 hypertrophy of breast oboInOwl:hasDbXref NCI:C3125 semapv:UnspecifiedMatching +DOID:10686 lactocele oboInOwl:hasDbXref ICD10CM:N64.89 semapv:UnspecifiedMatching DOID:10688 hypertrophy of breast oboInOwl:hasDbXref ICD10CM:N62 semapv:UnspecifiedMatching DOID:10688 hypertrophy of breast oboInOwl:hasDbXref ICD9CM:611.1 semapv:UnspecifiedMatching +DOID:10688 hypertrophy of breast oboInOwl:hasDbXref NCI:C3125 semapv:UnspecifiedMatching +DOID:10688 hypertrophy of breast oboInOwl:hasDbXref UMLS_CUI:C0020565 semapv:UnspecifiedMatching DOID:10690 mastitis oboInOwl:hasDbXref MESH:D008413 semapv:UnspecifiedMatching DOID:10690 mastitis oboInOwl:hasDbXref NCI:C53662 semapv:UnspecifiedMatching DOID:10690 mastitis oboInOwl:hasDbXref UMLS_CUI:C0024894 semapv:UnspecifiedMatching @@ -13192,138 +13218,138 @@ DOID:10691 fat necrosis of breast oboInOwl:hasDbXref ICD10CM:N64.1 semapv:Unspec DOID:10691 fat necrosis of breast oboInOwl:hasDbXref ICD9CM:611.3 semapv:UnspecifiedMatching DOID:10691 fat necrosis of breast oboInOwl:hasDbXref NCI:C3661 semapv:UnspecifiedMatching DOID:10691 fat necrosis of breast oboInOwl:hasDbXref UMLS_CUI:C0156321 semapv:UnspecifiedMatching -DOID:10697 chronic endophthalmitis oboInOwl:hasDbXref ICD9CM:360.03 semapv:UnspecifiedMatching DOID:10697 chronic endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0154774 semapv:UnspecifiedMatching +DOID:10697 chronic endophthalmitis oboInOwl:hasDbXref ICD9CM:360.03 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref UMLS_CUI:C0030424 semapv:UnspecifiedMatching -DOID:10699 paragonimiasis oboInOwl:hasDbXref MESH:D010237 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref NCI:C84995 semapv:UnspecifiedMatching -DOID:10699 paragonimiasis oboInOwl:hasDbXref ICD9CM:121.2 semapv:UnspecifiedMatching +DOID:10699 paragonimiasis oboInOwl:hasDbXref MESH:D010237 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref GARD:9815 semapv:UnspecifiedMatching DOID:10699 paragonimiasis oboInOwl:hasDbXref ICD10CM:B66.4 semapv:UnspecifiedMatching +DOID:10699 paragonimiasis oboInOwl:hasDbXref ICD9CM:121.2 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.11 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref ICD9CM:365.11 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref MESH:D005902 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref NCI:C35394 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref OMIM:137760 semapv:UnspecifiedMatching DOID:1070 primary open angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0339573 semapv:UnspecifiedMatching -DOID:10718 giardiasis oboInOwl:hasDbXref ICD10CM:A07.1 semapv:UnspecifiedMatching -DOID:10718 giardiasis oboInOwl:hasDbXref ICD9CM:007.1 semapv:UnspecifiedMatching +DOID:10718 giardiasis oboInOwl:hasDbXref UMLS_CUI:C0017536 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref MEDDRA:0017536 semapv:UnspecifiedMatching DOID:10718 giardiasis oboInOwl:hasDbXref MESH:D005873 semapv:UnspecifiedMatching -DOID:10718 giardiasis oboInOwl:hasDbXref UMLS_CUI:C0017536 semapv:UnspecifiedMatching -DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref UMLS_CUI:C0154138 semapv:UnspecifiedMatching -DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref ICD9CM:242.00 semapv:UnspecifiedMatching +DOID:10718 giardiasis oboInOwl:hasDbXref ICD10CM:A07.1 semapv:UnspecifiedMatching +DOID:10718 giardiasis oboInOwl:hasDbXref ICD9CM:007.1 semapv:UnspecifiedMatching DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref GARD:6549 semapv:UnspecifiedMatching +DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref ICD9CM:242.00 semapv:UnspecifiedMatching +DOID:10719 toxic diffuse goiter oboInOwl:hasDbXref UMLS_CUI:C0154138 semapv:UnspecifiedMatching DOID:1073 renal hypertension oboInOwl:hasDbXref MESH:D006977 semapv:UnspecifiedMatching DOID:1073 renal hypertension oboInOwl:hasDbXref NCI:C3121 semapv:UnspecifiedMatching DOID:1073 renal hypertension oboInOwl:hasDbXref UMLS_CUI:C0020544 semapv:UnspecifiedMatching +DOID:1074 kidney failure oboInOwl:hasDbXref NCI:C4376 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref ICD10CM:N19 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref ICD9CM:586 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref MESH:D051437 semapv:UnspecifiedMatching -DOID:1074 kidney failure oboInOwl:hasDbXref NCI:C4376 semapv:UnspecifiedMatching DOID:1074 kidney failure oboInOwl:hasDbXref UMLS_CUI:C0035078 semapv:UnspecifiedMatching -DOID:10742 cerebral lipidosis oboInOwl:hasDbXref ICD9CM:330.1 semapv:UnspecifiedMatching DOID:10742 cerebral lipidosis oboInOwl:hasDbXref UMLS_CUI:C0007788 semapv:UnspecifiedMatching +DOID:10742 cerebral lipidosis oboInOwl:hasDbXref ICD9CM:330.1 semapv:UnspecifiedMatching DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref NCI:C179934 semapv:UnspecifiedMatching +DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346866 semapv:UnspecifiedMatching DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.1 semapv:UnspecifiedMatching DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref ICD9CM:183.3 semapv:UnspecifiedMatching -DOID:10744 broad ligament malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346866 semapv:UnspecifiedMatching -DOID:10754 otitis media oboInOwl:hasDbXref UMLS_CUI:C0029882 semapv:UnspecifiedMatching -DOID:10754 otitis media oboInOwl:hasDbXref NCI:C34885 semapv:UnspecifiedMatching -DOID:10754 otitis media oboInOwl:hasDbXref MESH:D010033 semapv:UnspecifiedMatching -DOID:10754 otitis media oboInOwl:hasDbXref ICD9CM:382.9 semapv:UnspecifiedMatching DOID:10754 otitis media oboInOwl:hasDbXref ICD10CM:H66.9 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.2 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.21 semapv:UnspecifiedMatching +DOID:10754 otitis media oboInOwl:hasDbXref ICD9CM:382.9 semapv:UnspecifiedMatching +DOID:10754 otitis media oboInOwl:hasDbXref MESH:D010033 semapv:UnspecifiedMatching +DOID:10754 otitis media oboInOwl:hasDbXref NCI:C34885 semapv:UnspecifiedMatching +DOID:10754 otitis media oboInOwl:hasDbXref UMLS_CUI:C0029882 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155450 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref MESH:D059270 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.22 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.21 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155449 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.22 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.2 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.21 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref ICD9CM:383.22 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref MESH:D059270 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.2 semapv:UnspecifiedMatching DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155448 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155449 semapv:UnspecifiedMatching -DOID:10755 petrositis oboInOwl:hasDbXref UMLS_CUI:C0155450 semapv:UnspecifiedMatching -DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref NCI:C123216 semapv:UnspecifiedMatching -DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0085697 semapv:UnspecifiedMatching +DOID:10755 petrositis oboInOwl:hasDbXref ICD10CM:H70.21 semapv:UnspecifiedMatching DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref ICD10CM:N11 semapv:UnspecifiedMatching DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref ICD9CM:590.0 semapv:UnspecifiedMatching +DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref NCI:C123216 semapv:UnspecifiedMatching +DOID:1076 chronic pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0085697 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref GARD:8229 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref ICD10CM:K76.6 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref ICD9CM:572.3 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref MESH:D006975 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref NCI:C3119 semapv:UnspecifiedMatching DOID:10762 portal hypertension oboInOwl:hasDbXref UMLS_CUI:C0020541 semapv:UnspecifiedMatching -DOID:10763 hypertension oboInOwl:hasDbXref UMLS_CUI:C0020538 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref NCI:C3117 semapv:UnspecifiedMatching +DOID:10763 hypertension oboInOwl:hasDbXref UMLS_CUI:C0020538 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref MESH:D006973 semapv:UnspecifiedMatching -DOID:10763 hypertension oboInOwl:hasDbXref EFO:0000537 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref ICD10CM:I10 semapv:UnspecifiedMatching +DOID:10763 hypertension oboInOwl:hasDbXref EFO:0000537 semapv:UnspecifiedMatching DOID:10763 hypertension oboInOwl:hasDbXref ICD9CM:401-405.99 semapv:UnspecifiedMatching +DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref GARD:9430 semapv:UnspecifiedMatching +DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:M31.19 semapv:UnspecifiedMatching +DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching +DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref NCI:C78797 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref OMIM:274150 semapv:UnspecifiedMatching DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref UMLS_CUI:C0034155 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref NCI:C78797 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref MESH:D011697 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:M31.19 semapv:UnspecifiedMatching -DOID:10772 thrombotic thrombocytopenic purpura oboInOwl:hasDbXref GARD:9430 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref GARD:183 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref ICD10CM:A20.0 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref ICD9CM:020.0 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching DOID:10773 bubonic plague oboInOwl:hasDbXref UMLS_CUI:C0282312 semapv:UnspecifiedMatching -DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref ICD10CM:I40.1 semapv:UnspecifiedMatching -DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref ICD9CM:422.91 semapv:UnspecifiedMatching DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155689 semapv:UnspecifiedMatching +DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref ICD9CM:422.91 semapv:UnspecifiedMatching +DOID:10778 fiedler's myocarditis oboInOwl:hasDbXref ICD10CM:I40.1 semapv:UnspecifiedMatching DOID:10779 septic myocarditis oboInOwl:hasDbXref ICD10CM:I40.0 semapv:UnspecifiedMatching DOID:10779 septic myocarditis oboInOwl:hasDbXref ICD9CM:422.92 semapv:UnspecifiedMatching DOID:10779 septic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155690 semapv:UnspecifiedMatching -DOID:10780 primary polycythemia oboInOwl:hasDbXref UMLS_CUI:C0152264 semapv:UnspecifiedMatching -DOID:10780 primary polycythemia oboInOwl:hasDbXref OMIMPS:133100 semapv:UnspecifiedMatching -DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD9CM:289.6 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD10CM:D75.0 semapv:UnspecifiedMatching +DOID:10780 primary polycythemia oboInOwl:hasDbXref ICD9CM:289.6 semapv:UnspecifiedMatching DOID:10780 primary polycythemia oboInOwl:hasDbXref NCI:C26955 semapv:UnspecifiedMatching +DOID:10780 primary polycythemia oboInOwl:hasDbXref OMIMPS:133100 semapv:UnspecifiedMatching +DOID:10780 primary polycythemia oboInOwl:hasDbXref UMLS_CUI:C0152264 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref ICD10CM:I88.0 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref ICD9CM:289.2 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref MESH:D008640 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref NCI:C26830 semapv:UnspecifiedMatching DOID:10782 mesenteric lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0025469 semapv:UnspecifiedMatching -DOID:10783 methemoglobinemia oboInOwl:hasDbXref ICD10CM:D74 semapv:UnspecifiedMatching -DOID:10783 methemoglobinemia oboInOwl:hasDbXref ICD9CM:289.7 semapv:UnspecifiedMatching +DOID:10783 methemoglobinemia oboInOwl:hasDbXref UMLS_CUI:C0025637 semapv:UnspecifiedMatching DOID:10783 methemoglobinemia oboInOwl:hasDbXref MESH:D008708 semapv:UnspecifiedMatching DOID:10783 methemoglobinemia oboInOwl:hasDbXref NCI:C34817 semapv:UnspecifiedMatching -DOID:10783 methemoglobinemia oboInOwl:hasDbXref UMLS_CUI:C0025637 semapv:UnspecifiedMatching -DOID:10787 premature menopause oboInOwl:hasDbXref UMLS_CUI:C0025322 semapv:UnspecifiedMatching -DOID:10787 premature menopause oboInOwl:hasDbXref NCI:C80099 semapv:UnspecifiedMatching -DOID:10787 premature menopause oboInOwl:hasDbXref ICD9CM:256.31 semapv:UnspecifiedMatching +DOID:10783 methemoglobinemia oboInOwl:hasDbXref ICD10CM:D74 semapv:UnspecifiedMatching +DOID:10783 methemoglobinemia oboInOwl:hasDbXref ICD9CM:289.7 semapv:UnspecifiedMatching DOID:10787 premature menopause oboInOwl:hasDbXref ICD10CM:E28.31 semapv:UnspecifiedMatching +DOID:10787 premature menopause oboInOwl:hasDbXref ICD9CM:256.31 semapv:UnspecifiedMatching DOID:10787 premature menopause oboInOwl:hasDbXref MESH:D008594 semapv:UnspecifiedMatching +DOID:10787 premature menopause oboInOwl:hasDbXref NCI:C80099 semapv:UnspecifiedMatching +DOID:10787 premature menopause oboInOwl:hasDbXref UMLS_CUI:C0025322 semapv:UnspecifiedMatching DOID:1079 setariasis oboInOwl:hasDbXref MESH:D012719 semapv:UnspecifiedMatching DOID:1079 setariasis oboInOwl:hasDbXref UMLS_CUI:C0036850 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref ICD10CM:J32.1 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref ICD9CM:473.1 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref NCI:C34473 semapv:UnspecifiedMatching DOID:10790 chronic frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008683 semapv:UnspecifiedMatching -DOID:10791 frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0016735 semapv:UnspecifiedMatching -DOID:10791 frontal sinusitis oboInOwl:hasDbXref ICD10CM:J32.1 semapv:UnspecifiedMatching DOID:10791 frontal sinusitis oboInOwl:hasDbXref MESH:D015522 semapv:UnspecifiedMatching +DOID:10791 frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0016735 semapv:UnspecifiedMatching DOID:10791 frontal sinusitis oboInOwl:hasDbXref NCI:C34626 semapv:UnspecifiedMatching -DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008698 semapv:UnspecifiedMatching -DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref NCI:C34477 semapv:UnspecifiedMatching +DOID:10791 frontal sinusitis oboInOwl:hasDbXref ICD10CM:J32.1 semapv:UnspecifiedMatching DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J32.0 semapv:UnspecifiedMatching DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref ICD9CM:473.0 semapv:UnspecifiedMatching +DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref NCI:C34477 semapv:UnspecifiedMatching +DOID:10792 chronic maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008698 semapv:UnspecifiedMatching +DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008712 semapv:UnspecifiedMatching +DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref NCI:C34480 semapv:UnspecifiedMatching DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref ICD10CM:J32.3 semapv:UnspecifiedMatching DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref ICD9CM:473.3 semapv:UnspecifiedMatching -DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref NCI:C34480 semapv:UnspecifiedMatching -DOID:10793 chronic sphenoidal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0008712 semapv:UnspecifiedMatching -DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref NCI:C35031 semapv:UnspecifiedMatching DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref ICD10CM:J32.3 semapv:UnspecifiedMatching DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref MESH:D015524 semapv:UnspecifiedMatching +DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref NCI:C35031 semapv:UnspecifiedMatching DOID:10794 sphenoid sinusitis oboInOwl:hasDbXref UMLS_CUI:C0037886 semapv:UnspecifiedMatching DOID:1080 filariasis skos:exactMatch MESH:D005368 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref UMLS_CUI:C0016085 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref NCI:C34611 semapv:UnspecifiedMatching -DOID:1080 filariasis oboInOwl:hasDbXref ICD9CM:125.9 semapv:UnspecifiedMatching -DOID:1080 filariasis oboInOwl:hasDbXref ICD10CM:B74 semapv:UnspecifiedMatching DOID:1080 filariasis oboInOwl:hasDbXref MESH:D005368 semapv:UnspecifiedMatching +DOID:1080 filariasis oboInOwl:hasDbXref ICD10CM:B74 semapv:UnspecifiedMatching +DOID:1080 filariasis oboInOwl:hasDbXref ICD9CM:125.9 semapv:UnspecifiedMatching DOID:10802 acute gonococcal epididymo-orchitis oboInOwl:hasDbXref ICD9CM:098.13 semapv:UnspecifiedMatching DOID:10802 acute gonococcal epididymo-orchitis oboInOwl:hasDbXref UMLS_CUI:C0153193 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref ICD10CM:K25 semapv:UnspecifiedMatching @@ -13331,13 +13357,13 @@ DOID:10808 gastric ulcer oboInOwl:hasDbXref ICD9CM:531 semapv:UnspecifiedMatchin DOID:10808 gastric ulcer oboInOwl:hasDbXref MESH:D013276 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref NCI:C3388 semapv:UnspecifiedMatching DOID:10808 gastric ulcer oboInOwl:hasDbXref UMLS_CUI:C0038358 semapv:UnspecifiedMatching -DOID:1081 mansonelliasis oboInOwl:hasDbXref UMLS_CUI:C0024759 semapv:UnspecifiedMatching -DOID:1081 mansonelliasis oboInOwl:hasDbXref MESH:D008368 semapv:UnspecifiedMatching -DOID:1081 mansonelliasis oboInOwl:hasDbXref NCI:C84882 semapv:UnspecifiedMatching DOID:1081 mansonelliasis oboInOwl:hasDbXref GARD:8216 semapv:UnspecifiedMatching DOID:1081 mansonelliasis oboInOwl:hasDbXref ICD10CM:B74.4 semapv:UnspecifiedMatching -DOID:10810 tibialis tendinitis oboInOwl:hasDbXref ICD9CM:726.72 semapv:UnspecifiedMatching +DOID:1081 mansonelliasis oboInOwl:hasDbXref MESH:D008368 semapv:UnspecifiedMatching +DOID:1081 mansonelliasis oboInOwl:hasDbXref NCI:C84882 semapv:UnspecifiedMatching +DOID:1081 mansonelliasis oboInOwl:hasDbXref UMLS_CUI:C0024759 semapv:UnspecifiedMatching DOID:10810 tibialis tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158321 semapv:UnspecifiedMatching +DOID:10810 tibialis tendinitis oboInOwl:hasDbXref ICD9CM:726.72 semapv:UnspecifiedMatching DOID:10811 nasal cavity cancer oboInOwl:hasDbXref ICD10CM:C30.0 semapv:UnspecifiedMatching DOID:10811 nasal cavity cancer oboInOwl:hasDbXref ICD9CM:160.0 semapv:UnspecifiedMatching DOID:10811 nasal cavity cancer oboInOwl:hasDbXref NCI:C4918 semapv:UnspecifiedMatching @@ -13349,28 +13375,28 @@ DOID:10813 nasal cavity lymphoma oboInOwl:hasDbXref UMLS_CUI:C1334921 semapv:Uns DOID:10816 duodenum adenocarcinoma oboInOwl:hasDbXref NCI:C7889 semapv:UnspecifiedMatching DOID:10816 duodenum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0278804 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref NCI:C94358 semapv:UnspecifiedMatching -DOID:10817 sexual sadism oboInOwl:hasDbXref MESH:D012448 semapv:UnspecifiedMatching -DOID:10817 sexual sadism oboInOwl:hasDbXref UMLS_CUI:C0036913 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref ICD10CM:F65.52 semapv:UnspecifiedMatching DOID:10817 sexual sadism oboInOwl:hasDbXref ICD9CM:302.84 semapv:UnspecifiedMatching -DOID:1082 dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching +DOID:10817 sexual sadism oboInOwl:hasDbXref MESH:D012448 semapv:UnspecifiedMatching +DOID:10817 sexual sadism oboInOwl:hasDbXref UMLS_CUI:C0036913 semapv:UnspecifiedMatching DOID:1082 dirofilariasis oboInOwl:hasDbXref UMLS_CUI:C0012602 semapv:UnspecifiedMatching +DOID:1082 dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching DOID:1082 dirofilariasis oboInOwl:hasDbXref GARD:11908 semapv:UnspecifiedMatching DOID:1082 dirofilariasis oboInOwl:hasDbXref ICD10CM:B74.8 semapv:UnspecifiedMatching +DOID:10823 malignant essential hypertension oboInOwl:hasDbXref ICD9CM:401.0 semapv:UnspecifiedMatching DOID:10823 malignant essential hypertension oboInOwl:hasDbXref NCI:C34802 semapv:UnspecifiedMatching DOID:10823 malignant essential hypertension oboInOwl:hasDbXref UMLS_CUI:C0024588 semapv:UnspecifiedMatching -DOID:10823 malignant essential hypertension oboInOwl:hasDbXref ICD9CM:401.0 semapv:UnspecifiedMatching +DOID:10824 malignant hypertension oboInOwl:hasDbXref MESH:D006974 semapv:UnspecifiedMatching DOID:10824 malignant hypertension oboInOwl:hasDbXref NCI:C3118 semapv:UnspecifiedMatching DOID:10824 malignant hypertension oboInOwl:hasDbXref UMLS_CUI:C0020540 semapv:UnspecifiedMatching -DOID:10824 malignant hypertension oboInOwl:hasDbXref MESH:D006974 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref UMLS_CUI:C0085580 semapv:UnspecifiedMatching +DOID:10825 essential hypertension oboInOwl:hasDbXref ORDO:243761 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:611014 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610948 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610262 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:610261 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:608742 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:607329 semapv:UnspecifiedMatching -DOID:10825 essential hypertension oboInOwl:hasDbXref ORDO:243761 semapv:UnspecifiedMatching +DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:608742 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:603918 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:145500 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref NCI:C3478 semapv:UnspecifiedMatching @@ -13378,86 +13404,86 @@ DOID:10825 essential hypertension oboInOwl:hasDbXref MESH:D000075222 semapv:Unsp DOID:10825 essential hypertension oboInOwl:hasDbXref ICD9CM:401 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref ICD10CM:I10 semapv:UnspecifiedMatching DOID:10825 essential hypertension oboInOwl:hasDbXref OMIM:604329 semapv:UnspecifiedMatching -DOID:10834 voyeurism oboInOwl:hasDbXref UMLS_CUI:C0042979 semapv:UnspecifiedMatching -DOID:10834 voyeurism oboInOwl:hasDbXref NCI:C94360 semapv:UnspecifiedMatching -DOID:10834 voyeurism oboInOwl:hasDbXref MESH:D014843 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref ICD10CM:F65.3 semapv:UnspecifiedMatching DOID:10834 voyeurism oboInOwl:hasDbXref ICD9CM:302.82 semapv:UnspecifiedMatching +DOID:10834 voyeurism oboInOwl:hasDbXref MESH:D014843 semapv:UnspecifiedMatching +DOID:10834 voyeurism oboInOwl:hasDbXref NCI:C94360 semapv:UnspecifiedMatching +DOID:10834 voyeurism oboInOwl:hasDbXref UMLS_CUI:C0042979 semapv:UnspecifiedMatching DOID:10835 chylocele of tunica vaginalis oboInOwl:hasDbXref ICD9CM:608.84 semapv:UnspecifiedMatching DOID:10835 chylocele of tunica vaginalis oboInOwl:hasDbXref UMLS_CUI:C0156315 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153065 semapv:UnspecifiedMatching -DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref GARD:10821 semapv:UnspecifiedMatching -DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref ICD10CM:A83.2 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref ICD9CM:062.2 semapv:UnspecifiedMatching DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref MESH:D020242 semapv:UnspecifiedMatching -DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153066 semapv:UnspecifiedMatching -DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref ICD9CM:062.4 semapv:UnspecifiedMatching +DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref GARD:10821 semapv:UnspecifiedMatching +DOID:10841 Eastern equine encephalitis oboInOwl:hasDbXref ICD10CM:A83.2 semapv:UnspecifiedMatching DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref ICD10CM:A83.4 semapv:UnspecifiedMatching +DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref ICD9CM:062.4 semapv:UnspecifiedMatching +DOID:10842 Murray Valley encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153066 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref GARD:7888 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref ICD10CM:A83.1 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref ICD9CM:062.1 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref MESH:D020241 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref NCI:C85227 semapv:UnspecifiedMatching DOID:10843 Western equine encephalitis oboInOwl:hasDbXref UMLS_CUI:C0153064 semapv:UnspecifiedMatching -DOID:10844 Japanese encephalitis oboInOwl:hasDbXref GARD:6797 semapv:UnspecifiedMatching -DOID:10844 Japanese encephalitis oboInOwl:hasDbXref ICD10CM:A83.0 semapv:UnspecifiedMatching -DOID:10844 Japanese encephalitis oboInOwl:hasDbXref ICD9CM:062.0 semapv:UnspecifiedMatching -DOID:10844 Japanese encephalitis oboInOwl:hasDbXref MESH:D004672 semapv:UnspecifiedMatching -DOID:10844 Japanese encephalitis oboInOwl:hasDbXref NCI:C34577 semapv:UnspecifiedMatching DOID:10844 Japanese encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014057 semapv:UnspecifiedMatching -DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014060 semapv:UnspecifiedMatching -DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref MESH:D004674 semapv:UnspecifiedMatching -DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref ICD9CM:062.3 semapv:UnspecifiedMatching +DOID:10844 Japanese encephalitis oboInOwl:hasDbXref NCI:C34577 semapv:UnspecifiedMatching +DOID:10844 Japanese encephalitis oboInOwl:hasDbXref MESH:D004672 semapv:UnspecifiedMatching +DOID:10844 Japanese encephalitis oboInOwl:hasDbXref ICD10CM:A83.0 semapv:UnspecifiedMatching +DOID:10844 Japanese encephalitis oboInOwl:hasDbXref GARD:6797 semapv:UnspecifiedMatching +DOID:10844 Japanese encephalitis oboInOwl:hasDbXref ICD9CM:062.0 semapv:UnspecifiedMatching DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref ICD10CM:A83.3 semapv:UnspecifiedMatching +DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref ICD9CM:062.3 semapv:UnspecifiedMatching +DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref MESH:D004674 semapv:UnspecifiedMatching +DOID:10845 St. Louis encephalitis oboInOwl:hasDbXref UMLS_CUI:C0014060 semapv:UnspecifiedMatching DOID:10846 angiodysplasia of intestine oboInOwl:hasDbXref ICD9CM:569.84 semapv:UnspecifiedMatching DOID:10846 angiodysplasia of intestine oboInOwl:hasDbXref UMLS_CUI:C0267367 semapv:UnspecifiedMatching +DOID:10849 sexual masochism oboInOwl:hasDbXref UMLS_CUI:C0036908 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref ICD10CM:F65.51 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref ICD9CM:302.83 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref MESH:D008398 semapv:UnspecifiedMatching DOID:10849 sexual masochism oboInOwl:hasDbXref NCI:C94356 semapv:UnspecifiedMatching -DOID:10849 sexual masochism oboInOwl:hasDbXref UMLS_CUI:C0036908 semapv:UnspecifiedMatching -DOID:1085 Edwards syndrome oboInOwl:hasDbXref ICD9CM:758.2 semapv:UnspecifiedMatching DOID:1085 Edwards syndrome oboInOwl:hasDbXref MESH:D000073842 semapv:UnspecifiedMatching -DOID:1085 Edwards syndrome oboInOwl:hasDbXref NCI:C101362 semapv:UnspecifiedMatching DOID:1085 Edwards syndrome oboInOwl:hasDbXref UMLS_CUI:C0152096 semapv:UnspecifiedMatching -DOID:10852 middle ear cholesterol granuloma oboInOwl:hasDbXref NCI:C3655 semapv:UnspecifiedMatching +DOID:1085 Edwards syndrome oboInOwl:hasDbXref ICD9CM:758.2 semapv:UnspecifiedMatching +DOID:1085 Edwards syndrome oboInOwl:hasDbXref NCI:C101362 semapv:UnspecifiedMatching DOID:10852 middle ear cholesterol granuloma oboInOwl:hasDbXref UMLS_CUI:C0155492 semapv:UnspecifiedMatching -DOID:10854 salivary gland disease oboInOwl:hasDbXref UMLS_CUI:C0029773 semapv:UnspecifiedMatching +DOID:10852 middle ear cholesterol granuloma oboInOwl:hasDbXref NCI:C3655 semapv:UnspecifiedMatching DOID:10854 salivary gland disease oboInOwl:hasDbXref ICD9CM:527.8 semapv:UnspecifiedMatching +DOID:10854 salivary gland disease oboInOwl:hasDbXref UMLS_CUI:C0029773 semapv:UnspecifiedMatching DOID:10863 paralytic squint oboInOwl:hasDbXref ICD10CM:H49 semapv:UnspecifiedMatching DOID:10863 paralytic squint oboInOwl:hasDbXref ICD9CM:378.5 semapv:UnspecifiedMatching DOID:10863 paralytic squint oboInOwl:hasDbXref UMLS_CUI:C0152221 semapv:UnspecifiedMatching DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref ICD9CM:378.51 semapv:UnspecifiedMatching DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching DOID:10864 partial third-nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0271370 semapv:UnspecifiedMatching -DOID:10865 abducens nerve palsy oboInOwl:hasDbXref MESH:D020434 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref GARD:9482 semapv:UnspecifiedMatching +DOID:10865 abducens nerve palsy oboInOwl:hasDbXref MESH:D020434 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref NCI:C27593 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref OMIM:100200 semapv:UnspecifiedMatching DOID:10865 abducens nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0271355 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0271371 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching DOID:10866 total third-nerve palsy oboInOwl:hasDbXref ICD9CM:378.52 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration oboInOwl:hasDbXref OMIMPS:603075 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration oboInOwl:hasDbXref UMLS_CUI:C0242383 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration oboInOwl:hasDbXref NCI:C84391 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref EFO:0001365 semapv:UnspecifiedMatching -DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD9CM:362.50 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD10CM:H35.30 semapv:UnspecifiedMatching +DOID:10871 age related macular degeneration oboInOwl:hasDbXref ICD9CM:362.50 semapv:UnspecifiedMatching DOID:10871 age related macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching +DOID:10871 age related macular degeneration oboInOwl:hasDbXref NCI:C84391 semapv:UnspecifiedMatching +DOID:10871 age related macular degeneration oboInOwl:hasDbXref OMIMPS:603075 semapv:UnspecifiedMatching +DOID:10871 age related macular degeneration oboInOwl:hasDbXref UMLS_CUI:C0242383 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref ICD10CM:H35.32 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref ICD9CM:362.52 semapv:UnspecifiedMatching DOID:10873 Kuhnt-Junius degeneration oboInOwl:hasDbXref UMLS_CUI:C0271084 semapv:UnspecifiedMatching -DOID:1088 meningocele skos:exactMatch MESH:D008588 semapv:UnspecifiedMatching DOID:1088 meningocele oboInOwl:hasDbXref UMLS_CUI:C0025299 semapv:UnspecifiedMatching -DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.81 semapv:UnspecifiedMatching +DOID:1088 meningocele skos:exactMatch MESH:D008588 semapv:UnspecifiedMatching DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0155772 semapv:UnspecifiedMatching +DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.81 semapv:UnspecifiedMatching DOID:10880 iliac vein thrombophlebitis oboInOwl:hasDbXref ICD10CM:I80.21 semapv:UnspecifiedMatching -DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref UMLS_CUI:C0018572 semapv:UnspecifiedMatching -DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref NCI:C128439 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref ICD10CM:B08.4 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref ICD9CM:074.3 semapv:UnspecifiedMatching DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref MESH:D006232 semapv:UnspecifiedMatching +DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref NCI:C128439 semapv:UnspecifiedMatching +DOID:10881 hand, foot and mouth disease oboInOwl:hasDbXref UMLS_CUI:C0018572 semapv:UnspecifiedMatching DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref ICD10CM:B33.0 semapv:UnspecifiedMatching DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref ICD9CM:074.1 semapv:UnspecifiedMatching DOID:10882 epidemic pleurodynia oboInOwl:hasDbXref MESH:D011000 semapv:UnspecifiedMatching @@ -13482,26 +13508,26 @@ DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300633 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300758 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref OMIM:300856 semapv:UnspecifiedMatching DOID:10892 hypospadias oboInOwl:hasDbXref UMLS_CUI:C0848558 semapv:UnspecifiedMatching -DOID:10907 microcephaly oboInOwl:hasDbXref NCI:C85874 semapv:UnspecifiedMatching -DOID:10907 microcephaly skos:exactMatch MESH:D008831 semapv:UnspecifiedMatching -DOID:10907 microcephaly oboInOwl:hasDbXref MESH:D008831 semapv:UnspecifiedMatching +DOID:10907 microcephaly oboInOwl:hasDbXref GARD:7038 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref UMLS_CUI:C0025958 semapv:UnspecifiedMatching -DOID:10907 microcephaly oboInOwl:hasDbXref ICD10CM:Q02 semapv:UnspecifiedMatching +DOID:10907 microcephaly skos:exactMatch MESH:D008831 semapv:UnspecifiedMatching +DOID:10907 microcephaly oboInOwl:hasDbXref NCI:C85874 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref GARD:3603 semapv:UnspecifiedMatching DOID:10907 microcephaly oboInOwl:hasDbXref ICD9CM:742.1 semapv:UnspecifiedMatching -DOID:10907 microcephaly oboInOwl:hasDbXref GARD:7038 semapv:UnspecifiedMatching +DOID:10907 microcephaly oboInOwl:hasDbXref ICD10CM:Q02 semapv:UnspecifiedMatching +DOID:10907 microcephaly oboInOwl:hasDbXref MESH:D008831 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref GARD:6682 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ICD10CM:G91 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref NCI:C3111 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0020255 semapv:UnspecifiedMatching +DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:236635 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:615219 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ORDO:2182 semapv:UnspecifiedMatching DOID:10908 hydrocephalus oboInOwl:hasDbXref ORDO:2185 semapv:UnspecifiedMatching -DOID:10908 hydrocephalus oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching +DOID:10908 hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0020255 semapv:UnspecifiedMatching DOID:1091 tooth disease oboInOwl:hasDbXref UMLS_CUI:C0040435 semapv:UnspecifiedMatching DOID:1091 tooth disease oboInOwl:hasDbXref MESH:D014076 semapv:UnspecifiedMatching DOID:10913 benign essential hypertension oboInOwl:hasDbXref ICD9CM:401.1 semapv:UnspecifiedMatching @@ -13548,10 +13574,10 @@ DOID:10931 dependent personality disorder oboInOwl:hasDbXref ICD9CM:301.6 semapv DOID:10931 dependent personality disorder oboInOwl:hasDbXref MESH:D003859 semapv:UnspecifiedMatching DOID:10931 dependent personality disorder oboInOwl:hasDbXref UMLS_CUI:C0011548 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref UMLS_CUI:C0009595 semapv:UnspecifiedMatching -DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref MESH:D003193 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref NCI:C92638 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref ICD10CM:F60.5 semapv:UnspecifiedMatching DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref ICD9CM:301.4 semapv:UnspecifiedMatching +DOID:10932 obsessive-compulsive personality disorder oboInOwl:hasDbXref MESH:D003193 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref ICD10CM:F42 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref ICD9CM:300.3 semapv:UnspecifiedMatching DOID:10933 obsessive-compulsive disorder oboInOwl:hasDbXref MESH:D009771 semapv:UnspecifiedMatching @@ -13566,8 +13592,8 @@ DOID:10935 dissociative disorder oboInOwl:hasDbXref UMLS_CUI:C0041857 semapv:Uns DOID:10935 dissociative disorder oboInOwl:hasDbXref UMLS_CUI:C0012746 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref NCI:C92197 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref MESH:D004213 semapv:UnspecifiedMatching -DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD9CM:300.15 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD10CM:F48.9 semapv:UnspecifiedMatching +DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD9CM:300.15 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD10CM:F44.9 semapv:UnspecifiedMatching DOID:10935 dissociative disorder oboInOwl:hasDbXref ICD9CM:300.9 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref ICD10CM:F60.1 semapv:UnspecifiedMatching @@ -13575,26 +13601,26 @@ DOID:10936 schizoid personality disorder oboInOwl:hasDbXref ICD9CM:301.2 semapv: DOID:10936 schizoid personality disorder oboInOwl:hasDbXref MESH:D012557 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref NCI:C92631 semapv:UnspecifiedMatching DOID:10936 schizoid personality disorder oboInOwl:hasDbXref UMLS_CUI:C0036339 semapv:UnspecifiedMatching -DOID:10937 impulse control disorder oboInOwl:hasDbXref ICD10CM:F63.9 semapv:UnspecifiedMatching -DOID:10937 impulse control disorder oboInOwl:hasDbXref ICD9CM:312.30 semapv:UnspecifiedMatching -DOID:10937 impulse control disorder oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching DOID:10937 impulse control disorder oboInOwl:hasDbXref NCI:C34723 semapv:UnspecifiedMatching +DOID:10937 impulse control disorder oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching DOID:10937 impulse control disorder oboInOwl:hasDbXref UMLS_CUI:C0021122 semapv:UnspecifiedMatching -DOID:10938 paranoid personality disorder oboInOwl:hasDbXref UMLS_CUI:C0030477 semapv:UnspecifiedMatching -DOID:10938 paranoid personality disorder oboInOwl:hasDbXref NCI:C92630 semapv:UnspecifiedMatching -DOID:10938 paranoid personality disorder oboInOwl:hasDbXref MESH:D010260 semapv:UnspecifiedMatching +DOID:10937 impulse control disorder oboInOwl:hasDbXref ICD10CM:F63.9 semapv:UnspecifiedMatching +DOID:10937 impulse control disorder oboInOwl:hasDbXref ICD9CM:312.30 semapv:UnspecifiedMatching DOID:10938 paranoid personality disorder oboInOwl:hasDbXref ICD10CM:F60.0 semapv:UnspecifiedMatching DOID:10938 paranoid personality disorder oboInOwl:hasDbXref ICD9CM:301.0 semapv:UnspecifiedMatching -DOID:10939 antisocial personality disorder oboInOwl:hasDbXref ICD10CM:F60.2 semapv:UnspecifiedMatching +DOID:10938 paranoid personality disorder oboInOwl:hasDbXref MESH:D010260 semapv:UnspecifiedMatching +DOID:10938 paranoid personality disorder oboInOwl:hasDbXref NCI:C92630 semapv:UnspecifiedMatching +DOID:10938 paranoid personality disorder oboInOwl:hasDbXref UMLS_CUI:C0030477 semapv:UnspecifiedMatching +DOID:10939 antisocial personality disorder oboInOwl:hasDbXref UMLS_CUI:C0003431 semapv:UnspecifiedMatching +DOID:10939 antisocial personality disorder oboInOwl:hasDbXref NCI:C88413 semapv:UnspecifiedMatching DOID:10939 antisocial personality disorder oboInOwl:hasDbXref ICD9CM:301.7 semapv:UnspecifiedMatching +DOID:10939 antisocial personality disorder oboInOwl:hasDbXref ICD10CM:F60.2 semapv:UnspecifiedMatching DOID:10939 antisocial personality disorder oboInOwl:hasDbXref MESH:D000987 semapv:UnspecifiedMatching -DOID:10939 antisocial personality disorder oboInOwl:hasDbXref NCI:C88413 semapv:UnspecifiedMatching -DOID:10939 antisocial personality disorder oboInOwl:hasDbXref UMLS_CUI:C0003431 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref UMLS_CUI:C0041671 semapv:UnspecifiedMatching +DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612312 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612311 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608906 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608905 semapv:UnspecifiedMatching -DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:612312 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:608903 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref OMIM:143465 semapv:UnspecifiedMatching DOID:1094 attention deficit hyperactivity disorder oboInOwl:hasDbXref MESH:D001289 semapv:UnspecifiedMatching @@ -13604,37 +13630,37 @@ DOID:10941 intracranial aneurysm oboInOwl:hasDbXref EFO:0003870 semapv:Unspecifi DOID:10941 intracranial aneurysm oboInOwl:hasDbXref MESH:D002532 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref NCI:C34458 semapv:UnspecifiedMatching DOID:10941 intracranial aneurysm oboInOwl:hasDbXref UMLS_CUI:C0007766 semapv:UnspecifiedMatching -DOID:10944 tongue disease oboInOwl:hasDbXref UMLS_CUI:C0040409 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref NCI:C173793 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref ICD10CM:K14 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref ICD9CM:529.9 semapv:UnspecifiedMatching DOID:10944 tongue disease oboInOwl:hasDbXref MESH:D014060 semapv:UnspecifiedMatching +DOID:10944 tongue disease oboInOwl:hasDbXref UMLS_CUI:C0040409 semapv:UnspecifiedMatching +DOID:10952 nephritis oboInOwl:hasDbXref UMLS_CUI:C0027697 semapv:UnspecifiedMatching +DOID:10952 nephritis oboInOwl:hasDbXref NCI:C26833 semapv:UnspecifiedMatching DOID:10952 nephritis oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:10952 nephritis oboInOwl:hasDbXref MESH:D009393 semapv:UnspecifiedMatching -DOID:10952 nephritis oboInOwl:hasDbXref NCI:C26833 semapv:UnspecifiedMatching -DOID:10952 nephritis oboInOwl:hasDbXref UMLS_CUI:C0027697 semapv:UnspecifiedMatching -DOID:10955 strongyloidiasis oboInOwl:hasDbXref UMLS_CUI:C0038463 semapv:UnspecifiedMatching -DOID:10955 strongyloidiasis oboInOwl:hasDbXref MESH:D013322 semapv:UnspecifiedMatching -DOID:10955 strongyloidiasis oboInOwl:hasDbXref NCI:C128398 semapv:UnspecifiedMatching +DOID:10955 strongyloidiasis oboInOwl:hasDbXref GARD:8195 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref ICD10CM:B78 semapv:UnspecifiedMatching DOID:10955 strongyloidiasis oboInOwl:hasDbXref ICD9CM:127.2 semapv:UnspecifiedMatching -DOID:10955 strongyloidiasis oboInOwl:hasDbXref GARD:8195 semapv:UnspecifiedMatching +DOID:10955 strongyloidiasis oboInOwl:hasDbXref MESH:D013322 semapv:UnspecifiedMatching +DOID:10955 strongyloidiasis oboInOwl:hasDbXref NCI:C128398 semapv:UnspecifiedMatching +DOID:10955 strongyloidiasis oboInOwl:hasDbXref UMLS_CUI:C0038463 semapv:UnspecifiedMatching DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref ICD10CM:H71.0 semapv:UnspecifiedMatching DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref ICD9CM:385.31 semapv:UnspecifiedMatching DOID:10963 cholesteatoma of attic oboInOwl:hasDbXref UMLS_CUI:C0155489 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD10CM:H71 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD9CM:385.3 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD9CM:385.32 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref MESH:D018424 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS_CUI:C0155490 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref NCI:C3654 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref MESH:D018424 semapv:UnspecifiedMatching DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS_CUI:C0008374 semapv:UnspecifiedMatching -DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref UMLS_CUI:C0155490 semapv:UnspecifiedMatching -DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS_CUI:C0154695 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD9CM:385.3 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD9CM:385.32 semapv:UnspecifiedMatching +DOID:10964 cholesteatoma of middle ear oboInOwl:hasDbXref ICD10CM:H71 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS_CUI:C0023882 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref NCI:C34781 semapv:UnspecifiedMatching -DOID:10965 spastic diplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching +DOID:10965 spastic diplegia oboInOwl:hasDbXref UMLS_CUI:C0154695 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref ICD9CM:343.0 semapv:UnspecifiedMatching DOID:10965 spastic diplegia oboInOwl:hasDbXref ICD10CM:G80.1 semapv:UnspecifiedMatching +DOID:10965 spastic diplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:10966 lipoid nephrosis oboInOwl:hasDbXref ICD10CM:N04 semapv:UnspecifiedMatching DOID:10966 lipoid nephrosis oboInOwl:hasDbXref MESH:D009402 semapv:UnspecifiedMatching DOID:10966 lipoid nephrosis oboInOwl:hasDbXref NCI:C34844 semapv:UnspecifiedMatching @@ -13642,14 +13668,14 @@ DOID:10966 lipoid nephrosis oboInOwl:hasDbXref UMLS_CUI:C0027721 semapv:Unspecif DOID:10967 spastic hemiplegia oboInOwl:hasDbXref GARD:10448 semapv:UnspecifiedMatching DOID:10967 spastic hemiplegia oboInOwl:hasDbXref ICD9CM:343.1 semapv:UnspecifiedMatching DOID:10967 spastic hemiplegia oboInOwl:hasDbXref UMLS_CUI:C0270805 semapv:UnspecifiedMatching -DOID:10968 spastic monoplegia oboInOwl:hasDbXref GARD:10446 semapv:UnspecifiedMatching -DOID:10968 spastic monoplegia oboInOwl:hasDbXref ICD9CM:343.3 semapv:UnspecifiedMatching -DOID:10968 spastic monoplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:10968 spastic monoplegia oboInOwl:hasDbXref UMLS_CUI:C0154698 semapv:UnspecifiedMatching -DOID:10969 hemiplegia oboInOwl:hasDbXref UMLS_CUI:C0392550 semapv:UnspecifiedMatching -DOID:10969 hemiplegia oboInOwl:hasDbXref MESH:D006429 semapv:UnspecifiedMatching -DOID:10969 hemiplegia oboInOwl:hasDbXref ICD9CM:343.4 semapv:UnspecifiedMatching +DOID:10968 spastic monoplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching +DOID:10968 spastic monoplegia oboInOwl:hasDbXref ICD9CM:343.3 semapv:UnspecifiedMatching +DOID:10968 spastic monoplegia oboInOwl:hasDbXref GARD:10446 semapv:UnspecifiedMatching DOID:10969 hemiplegia oboInOwl:hasDbXref GARD:6583 semapv:UnspecifiedMatching +DOID:10969 hemiplegia oboInOwl:hasDbXref ICD9CM:343.4 semapv:UnspecifiedMatching +DOID:10969 hemiplegia oboInOwl:hasDbXref MESH:D006429 semapv:UnspecifiedMatching +DOID:10969 hemiplegia oboInOwl:hasDbXref UMLS_CUI:C0392550 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegia oboInOwl:hasDbXref ICD9CM:343.2 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegia oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:10970 spastic quadriplegia oboInOwl:hasDbXref OMIM:612900 semapv:UnspecifiedMatching @@ -13658,13 +13684,13 @@ DOID:10970 spastic quadriplegia oboInOwl:hasDbXref UMLS_CUI:C0154697 semapv:Unsp DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70.03 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.0 semapv:UnspecifiedMatching DOID:10971 acute salpingo-oophoritis oboInOwl:hasDbXref UMLS_CUI:C0156327 semapv:UnspecifiedMatching -DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70 semapv:UnspecifiedMatching -DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.2 semapv:UnspecifiedMatching -DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref NCI:C171201 semapv:UnspecifiedMatching DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref UMLS_CUI:C0036133 semapv:UnspecifiedMatching +DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref NCI:C171201 semapv:UnspecifiedMatching +DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.2 semapv:UnspecifiedMatching +DOID:10972 salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70 semapv:UnspecifiedMatching +DOID:10973 acute salpingitis oboInOwl:hasDbXref ICD10CM:N70.01 semapv:UnspecifiedMatching DOID:10973 acute salpingitis oboInOwl:hasDbXref NCI:C40120 semapv:UnspecifiedMatching DOID:10973 acute salpingitis oboInOwl:hasDbXref UMLS_CUI:C0269038 semapv:UnspecifiedMatching -DOID:10973 acute salpingitis oboInOwl:hasDbXref ICD10CM:N70.01 semapv:UnspecifiedMatching DOID:10974 oophoritis oboInOwl:hasDbXref ICD10CM:N70.92 semapv:UnspecifiedMatching DOID:10974 oophoritis oboInOwl:hasDbXref MESH:D009869 semapv:UnspecifiedMatching DOID:10974 oophoritis oboInOwl:hasDbXref UMLS_CUI:C0029051 semapv:UnspecifiedMatching @@ -13673,78 +13699,78 @@ DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref ICD10CM:N03.2 semapv DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref MESH:D015433 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref NCI:C34645 semapv:UnspecifiedMatching DOID:10976 membranous glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017665 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD10CM:P55 semapv:UnspecifiedMatching +DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref UMLS_CUI:C0014761 semapv:UnspecifiedMatching +DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref NCI:C101304 semapv:UnspecifiedMatching DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD9CM:773 semapv:UnspecifiedMatching +DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref ICD10CM:P55 semapv:UnspecifiedMatching DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref MESH:D004899 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref NCI:C101304 semapv:UnspecifiedMatching -DOID:1098 fetal erythroblastosis oboInOwl:hasDbXref UMLS_CUI:C0014761 semapv:UnspecifiedMatching -DOID:10983 Alport syndrome oboInOwl:hasDbXref UMLS_CUI:C0027706 semapv:UnspecifiedMatching -DOID:10983 Alport syndrome oboInOwl:hasDbXref ORDO:63 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref GARD:5785 semapv:UnspecifiedMatching DOID:10983 Alport syndrome oboInOwl:hasDbXref MESH:D009394 semapv:UnspecifiedMatching +DOID:10983 Alport syndrome oboInOwl:hasDbXref ORDO:63 semapv:UnspecifiedMatching +DOID:10983 Alport syndrome oboInOwl:hasDbXref UMLS_CUI:C0027706 semapv:UnspecifiedMatching +DOID:10986 discitis oboInOwl:hasDbXref UMLS_CUI:C0012624 semapv:UnspecifiedMatching DOID:10986 discitis oboInOwl:hasDbXref ICD10CM:M46.4 semapv:UnspecifiedMatching DOID:10986 discitis oboInOwl:hasDbXref MESH:D015299 semapv:UnspecifiedMatching -DOID:10986 discitis oboInOwl:hasDbXref UMLS_CUI:C0012624 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref ICD10CM:H11.41 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref ICD9CM:372.74 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref NCI:C35116 semapv:UnspecifiedMatching DOID:10989 conjunctival vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042370 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref GARD:621 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD9CM:282.43 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching -DOID:1099 alpha thalassemia oboInOwl:hasDbXref NCI:C34368 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching +DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD9CM:282.43 semapv:UnspecifiedMatching DOID:1099 alpha thalassemia oboInOwl:hasDbXref UMLS_CUI:C0002312 semapv:UnspecifiedMatching -DOID:10991 basal ganglia cerebrovascular disease skos:exactMatch MESH:D020144 semapv:UnspecifiedMatching +DOID:1099 alpha thalassemia oboInOwl:hasDbXref NCI:C34368 semapv:UnspecifiedMatching +DOID:1099 alpha thalassemia oboInOwl:hasDbXref ICD10CM:D56.0 semapv:UnspecifiedMatching +DOID:1099 alpha thalassemia oboInOwl:hasDbXref GARD:621 semapv:UnspecifiedMatching +DOID:1099 alpha thalassemia oboInOwl:hasDbXref MESH:D017085 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref MESH:D020144 semapv:UnspecifiedMatching DOID:10991 basal ganglia cerebrovascular disease oboInOwl:hasDbXref UMLS_CUI:C0751739 semapv:UnspecifiedMatching +DOID:10991 basal ganglia cerebrovascular disease skos:exactMatch MESH:D020144 semapv:UnspecifiedMatching +DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref UMLS_CUI:C0014077 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref GARD:8629 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref MESH:D004684 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref NCI:C84535 semapv:UnspecifiedMatching DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref OMIM:606752 semapv:UnspecifiedMatching -DOID:10992 acute hemorrhagic leukoencephalitis oboInOwl:hasDbXref UMLS_CUI:C0014077 semapv:UnspecifiedMatching -DOID:10997 immature cataract oboInOwl:hasDbXref ICD10CM:H25.09 semapv:UnspecifiedMatching DOID:10997 immature cataract oboInOwl:hasDbXref UMLS_CUI:C0271163 semapv:UnspecifiedMatching +DOID:10997 immature cataract oboInOwl:hasDbXref ICD10CM:H25.09 semapv:UnspecifiedMatching +DOID:110 lens disease oboInOwl:hasDbXref UMLS_CUI:C0023308 semapv:UnspecifiedMatching +DOID:110 lens disease oboInOwl:hasDbXref NCI:C26812 semapv:UnspecifiedMatching DOID:110 lens disease oboInOwl:hasDbXref ICD10CM:H27.9 semapv:UnspecifiedMatching DOID:110 lens disease oboInOwl:hasDbXref MESH:D007905 semapv:UnspecifiedMatching -DOID:110 lens disease oboInOwl:hasDbXref NCI:C26812 semapv:UnspecifiedMatching -DOID:110 lens disease oboInOwl:hasDbXref UMLS_CUI:C0023308 semapv:UnspecifiedMatching -DOID:1100 ovarian disease oboInOwl:hasDbXref UMLS_CUI:C0029928 semapv:UnspecifiedMatching -DOID:1100 ovarian disease oboInOwl:hasDbXref NCI:C26841 semapv:UnspecifiedMatching DOID:1100 ovarian disease oboInOwl:hasDbXref MESH:D010049 semapv:UnspecifiedMatching +DOID:1100 ovarian disease oboInOwl:hasDbXref NCI:C26841 semapv:UnspecifiedMatching +DOID:1100 ovarian disease oboInOwl:hasDbXref UMLS_CUI:C0029928 semapv:UnspecifiedMatching DOID:11014 anorectal stricture oboInOwl:hasDbXref UMLS_CUI:C0156183 semapv:UnspecifiedMatching DOID:11028 pseudopterygium oboInOwl:hasDbXref ICD9CM:372.52 semapv:UnspecifiedMatching DOID:11028 pseudopterygium oboInOwl:hasDbXref UMLS_CUI:C0155161 semapv:UnspecifiedMatching +DOID:11029 pinguecula oboInOwl:hasDbXref NCI:C129468 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref ICD10CM:H11.15 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref ICD9CM:372.51 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref MESH:D059407 semapv:UnspecifiedMatching -DOID:11029 pinguecula oboInOwl:hasDbXref NCI:C129468 semapv:UnspecifiedMatching DOID:11029 pinguecula oboInOwl:hasDbXref UMLS_CUI:C0152255 semapv:UnspecifiedMatching +DOID:11030 corneal edema oboInOwl:hasDbXref UMLS_CUI:C0010037 semapv:UnspecifiedMatching +DOID:11030 corneal edema oboInOwl:hasDbXref NCI:C50508 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref ICD10CM:H18.20 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref ICD9CM:371.2 semapv:UnspecifiedMatching DOID:11030 corneal edema oboInOwl:hasDbXref MESH:D015715 semapv:UnspecifiedMatching -DOID:11030 corneal edema oboInOwl:hasDbXref NCI:C50508 semapv:UnspecifiedMatching -DOID:11030 corneal edema oboInOwl:hasDbXref UMLS_CUI:C0010037 semapv:UnspecifiedMatching DOID:11031 bullous keratopathy oboInOwl:hasDbXref UMLS_CUI:C0155111 semapv:UnspecifiedMatching -DOID:11031 bullous keratopathy oboInOwl:hasDbXref NCI:C26970 semapv:UnspecifiedMatching DOID:11031 bullous keratopathy oboInOwl:hasDbXref ICD10CM:H18.1 semapv:UnspecifiedMatching DOID:11031 bullous keratopathy oboInOwl:hasDbXref ICD9CM:371.23 semapv:UnspecifiedMatching -DOID:11032 secondary corneal edema oboInOwl:hasDbXref ICD10CM:H18.23 semapv:UnspecifiedMatching +DOID:11031 bullous keratopathy oboInOwl:hasDbXref NCI:C26970 semapv:UnspecifiedMatching DOID:11032 secondary corneal edema oboInOwl:hasDbXref ICD9CM:371.22 semapv:UnspecifiedMatching DOID:11032 secondary corneal edema oboInOwl:hasDbXref UMLS_CUI:C0155110 semapv:UnspecifiedMatching -DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref ICD10CM:H18.22 semapv:UnspecifiedMatching +DOID:11032 secondary corneal edema oboInOwl:hasDbXref ICD10CM:H18.23 semapv:UnspecifiedMatching DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref ICD9CM:371.21 semapv:UnspecifiedMatching DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref UMLS_CUI:C0155109 semapv:UnspecifiedMatching -DOID:11034 contact lens corneal edema oboInOwl:hasDbXref ICD9CM:371.24 semapv:UnspecifiedMatching +DOID:11033 idiopathic corneal edema oboInOwl:hasDbXref ICD10CM:H18.22 semapv:UnspecifiedMatching DOID:11034 contact lens corneal edema oboInOwl:hasDbXref UMLS_CUI:C0474442 semapv:UnspecifiedMatching +DOID:11034 contact lens corneal edema oboInOwl:hasDbXref ICD9CM:371.24 semapv:UnspecifiedMatching DOID:11036 chronic rapidly progressive glomerulonephritis oboInOwl:hasDbXref ICD9CM:582.4 semapv:UnspecifiedMatching DOID:11036 chronic rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0341694 semapv:UnspecifiedMatching -DOID:11037 dissociative amnesia oboInOwl:hasDbXref NCI:C94328 semapv:UnspecifiedMatching -DOID:11037 dissociative amnesia oboInOwl:hasDbXref MESH:D000647 semapv:UnspecifiedMatching -DOID:11037 dissociative amnesia oboInOwl:hasDbXref UMLS_CUI:C0236795 semapv:UnspecifiedMatching DOID:11037 dissociative amnesia oboInOwl:hasDbXref ICD10CM:F44.0 semapv:UnspecifiedMatching DOID:11037 dissociative amnesia oboInOwl:hasDbXref ICD9CM:300.12 semapv:UnspecifiedMatching +DOID:11037 dissociative amnesia oboInOwl:hasDbXref MESH:D000647 semapv:UnspecifiedMatching +DOID:11037 dissociative amnesia oboInOwl:hasDbXref NCI:C94328 semapv:UnspecifiedMatching +DOID:11037 dissociative amnesia oboInOwl:hasDbXref UMLS_CUI:C0236795 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref GARD:6260 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref ICD9CM:300.6 semapv:UnspecifiedMatching DOID:11038 depersonalization disorder oboInOwl:hasDbXref MESH:D003861 semapv:UnspecifiedMatching @@ -13757,32 +13783,32 @@ DOID:11042 Felty's syndrome oboInOwl:hasDbXref ICD10CM:M05.0 semapv:UnspecifiedM DOID:11042 Felty's syndrome oboInOwl:hasDbXref ICD9CM:714.1 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref GARD:8234 semapv:UnspecifiedMatching DOID:11042 Felty's syndrome oboInOwl:hasDbXref MESH:D005258 semapv:UnspecifiedMatching -DOID:11044 gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching -DOID:11044 gastroschisis oboInOwl:hasDbXref UMLS_CUI:C0265706 semapv:UnspecifiedMatching -DOID:11044 gastroschisis oboInOwl:hasDbXref NCI:C84725 semapv:UnspecifiedMatching +DOID:11044 gastroschisis oboInOwl:hasDbXref GARD:8661 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref ICD10CM:Q79.3 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref ICD9CM:756.73 semapv:UnspecifiedMatching -DOID:11044 gastroschisis oboInOwl:hasDbXref GARD:8661 semapv:UnspecifiedMatching DOID:11044 gastroschisis oboInOwl:hasDbXref MESH:D020139 semapv:UnspecifiedMatching -DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref GARD:10494 semapv:UnspecifiedMatching -DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref ICD10CM:P24.01 semapv:UnspecifiedMatching -DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching +DOID:11044 gastroschisis oboInOwl:hasDbXref NCI:C84725 semapv:UnspecifiedMatching +DOID:11044 gastroschisis oboInOwl:hasDbXref OMIM:230750 semapv:UnspecifiedMatching +DOID:11044 gastroschisis oboInOwl:hasDbXref UMLS_CUI:C0265706 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref NCI:C87093 semapv:UnspecifiedMatching +DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref MESH:D008471 semapv:UnspecifiedMatching DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref UMLS_CUI:C0025048 semapv:UnspecifiedMatching +DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref GARD:10494 semapv:UnspecifiedMatching +DOID:11049 meconium aspiration syndrome oboInOwl:hasDbXref ICD10CM:P24.01 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref GARD:12210 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref ICD10CM:C67 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref ICD9CM:188 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref KEGG:05219 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref MESH:D001749 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C2901 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C9334 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C0005695 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C0005684 semapv:UnspecifiedMatching DOID:11054 urinary bladder cancer oboInOwl:hasDbXref OMIM:109800 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref NCI:C2901 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref MESH:D001749 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref KEGG:05219 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref ICD9CM:188 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref ICD10CM:C67 semapv:UnspecifiedMatching -DOID:11054 urinary bladder cancer oboInOwl:hasDbXref GARD:12210 semapv:UnspecifiedMatching -DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD10CM:A28.0 semapv:UnspecifiedMatching -DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD9CM:027.2 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C0005684 semapv:UnspecifiedMatching +DOID:11054 urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C0005695 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref MESH:D010326 semapv:UnspecifiedMatching DOID:11055 pasteurellosis oboInOwl:hasDbXref UMLS_CUI:C0030636 semapv:UnspecifiedMatching +DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD10CM:A28.0 semapv:UnspecifiedMatching +DOID:11055 pasteurellosis oboInOwl:hasDbXref ICD9CM:027.2 semapv:UnspecifiedMatching DOID:1106 esophagus lymphoma oboInOwl:hasDbXref NCI:C5687 semapv:UnspecifiedMatching DOID:1106 esophagus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333459 semapv:UnspecifiedMatching DOID:11060 placenta praevia oboInOwl:hasDbXref ICD10CM:O44 semapv:UnspecifiedMatching @@ -13792,89 +13818,89 @@ DOID:11060 placenta praevia oboInOwl:hasDbXref UMLS_CUI:C0032046 semapv:Unspecif DOID:1107 esophageal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0152018 semapv:UnspecifiedMatching DOID:1107 esophageal carcinoma oboInOwl:hasDbXref EFO:0002916 semapv:UnspecifiedMatching DOID:1107 esophageal carcinoma oboInOwl:hasDbXref NCI:C3513 semapv:UnspecifiedMatching +DOID:11077 brucellosis oboInOwl:hasDbXref UMLS_CUI:C0006309 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref GARD:5966 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref ICD10CM:A23 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref ICD9CM:023 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref MESH:D002006 semapv:UnspecifiedMatching DOID:11077 brucellosis oboInOwl:hasDbXref NCI:C84602 semapv:UnspecifiedMatching -DOID:11077 brucellosis oboInOwl:hasDbXref UMLS_CUI:C0006309 semapv:UnspecifiedMatching -DOID:11079 leech infestation oboInOwl:hasDbXref ICD10CM:B88.3 semapv:UnspecifiedMatching -DOID:11079 leech infestation oboInOwl:hasDbXref ICD9CM:134.2 semapv:UnspecifiedMatching DOID:11079 leech infestation oboInOwl:hasDbXref UMLS_CUI:C0019575 semapv:UnspecifiedMatching +DOID:11079 leech infestation oboInOwl:hasDbXref ICD9CM:134.2 semapv:UnspecifiedMatching +DOID:11079 leech infestation oboInOwl:hasDbXref ICD10CM:B88.3 semapv:UnspecifiedMatching DOID:1108 esophagus melanoma oboInOwl:hasDbXref NCI:C5707 semapv:UnspecifiedMatching DOID:1108 esophagus melanoma oboInOwl:hasDbXref UMLS_CUI:C1333460 semapv:UnspecifiedMatching -DOID:11080 myiasis oboInOwl:hasDbXref NCI:C128400 semapv:UnspecifiedMatching -DOID:11080 myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching -DOID:11080 myiasis oboInOwl:hasDbXref UMLS_CUI:C0027030 semapv:UnspecifiedMatching DOID:11080 myiasis oboInOwl:hasDbXref ICD10CM:B87 semapv:UnspecifiedMatching DOID:11080 myiasis oboInOwl:hasDbXref ICD9CM:134.0 semapv:UnspecifiedMatching +DOID:11080 myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching +DOID:11080 myiasis oboInOwl:hasDbXref NCI:C128400 semapv:UnspecifiedMatching +DOID:11080 myiasis oboInOwl:hasDbXref UMLS_CUI:C0027030 semapv:UnspecifiedMatching DOID:11086 chorioretinal scar oboInOwl:hasDbXref ICD10CM:H31.0 semapv:UnspecifiedMatching DOID:11086 chorioretinal scar oboInOwl:hasDbXref ICD9CM:363.3 semapv:UnspecifiedMatching DOID:11086 chorioretinal scar oboInOwl:hasDbXref UMLS_CUI:C0008512 semapv:UnspecifiedMatching -DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref GARD:5857 semapv:UnspecifiedMatching +DOID:11088 asphyxia neonatorum skos:exactMatch MESH:D001238 semapv:UnspecifiedMatching +DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0004045 semapv:UnspecifiedMatching +DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref MESH:D001238 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref ICD10CM:P84 semapv:UnspecifiedMatching +DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref GARD:5857 semapv:UnspecifiedMatching DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref ICD9CM:768.9 semapv:UnspecifiedMatching -DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref MESH:D001238 semapv:UnspecifiedMatching -DOID:11088 asphyxia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0004045 semapv:UnspecifiedMatching -DOID:11088 asphyxia neonatorum skos:exactMatch MESH:D001238 semapv:UnspecifiedMatching -DOID:11100 Q fever oboInOwl:hasDbXref NCI:C34970 semapv:UnspecifiedMatching -DOID:11100 Q fever oboInOwl:hasDbXref MESH:D011778 semapv:UnspecifiedMatching -DOID:11100 Q fever oboInOwl:hasDbXref UMLS_CUI:C0034362 semapv:UnspecifiedMatching -DOID:11100 Q fever oboInOwl:hasDbXref ICD10CM:A78 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref GARD:7515 semapv:UnspecifiedMatching +DOID:11100 Q fever oboInOwl:hasDbXref ICD10CM:A78 semapv:UnspecifiedMatching DOID:11100 Q fever oboInOwl:hasDbXref ICD9CM:083.0 semapv:UnspecifiedMatching -DOID:11101 trench fever skos:exactMatch MESH:D014205 semapv:UnspecifiedMatching -DOID:11101 trench fever oboInOwl:hasDbXref UMLS_CUI:C0040830 semapv:UnspecifiedMatching +DOID:11100 Q fever oboInOwl:hasDbXref MESH:D011778 semapv:UnspecifiedMatching +DOID:11100 Q fever oboInOwl:hasDbXref NCI:C34970 semapv:UnspecifiedMatching +DOID:11100 Q fever oboInOwl:hasDbXref UMLS_CUI:C0034362 semapv:UnspecifiedMatching DOID:11101 trench fever oboInOwl:hasDbXref ICD10CM:A79.0 semapv:UnspecifiedMatching DOID:11101 trench fever oboInOwl:hasDbXref ICD9CM:083.1 semapv:UnspecifiedMatching DOID:11101 trench fever oboInOwl:hasDbXref MESH:D014205 semapv:UnspecifiedMatching -DOID:11102 bartonellosis oboInOwl:hasDbXref ICD10CM:A44 semapv:UnspecifiedMatching -DOID:11102 bartonellosis oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching -DOID:11102 bartonellosis oboInOwl:hasDbXref NCI:C84586 semapv:UnspecifiedMatching +DOID:11101 trench fever oboInOwl:hasDbXref UMLS_CUI:C0040830 semapv:UnspecifiedMatching +DOID:11101 trench fever skos:exactMatch MESH:D014205 semapv:UnspecifiedMatching DOID:11102 bartonellosis oboInOwl:hasDbXref UMLS_CUI:C0004771 semapv:UnspecifiedMatching +DOID:11102 bartonellosis oboInOwl:hasDbXref NCI:C84586 semapv:UnspecifiedMatching +DOID:11102 bartonellosis oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching DOID:11102 bartonellosis oboInOwl:hasDbXref ICD9CM:088.0 semapv:UnspecifiedMatching +DOID:11102 bartonellosis oboInOwl:hasDbXref ICD10CM:A44 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref ICD10CM:A79.1 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref ICD9CM:083.2 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching DOID:11103 rickettsialpox oboInOwl:hasDbXref UMLS_CUI:C0035597 semapv:UnspecifiedMatching -DOID:11104 spotted fever oboInOwl:hasDbXref UMLS_CUI:C0038041 semapv:UnspecifiedMatching -DOID:11104 spotted fever oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching -DOID:11104 spotted fever oboInOwl:hasDbXref ICD9CM:082.0 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref GARD:4998 semapv:UnspecifiedMatching DOID:11104 spotted fever oboInOwl:hasDbXref ICD10CM:A77.9 semapv:UnspecifiedMatching +DOID:11104 spotted fever oboInOwl:hasDbXref ICD9CM:082.0 semapv:UnspecifiedMatching +DOID:11104 spotted fever oboInOwl:hasDbXref MESH:D000073605 semapv:UnspecifiedMatching +DOID:11104 spotted fever oboInOwl:hasDbXref UMLS_CUI:C0038041 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref MESH:C562733 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching DOID:11105 fundus albipunctatus oboInOwl:hasDbXref UMLS_CUI:C0311338 semapv:UnspecifiedMatching +DOID:11111 hydronephrosis oboInOwl:hasDbXref UMLS_CUI:C0020295 semapv:UnspecifiedMatching +DOID:11111 hydronephrosis oboInOwl:hasDbXref NCI:C26796 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref ICD10CM:N13.30 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref ICD9CM:591 semapv:UnspecifiedMatching DOID:11111 hydronephrosis oboInOwl:hasDbXref MESH:D006869 semapv:UnspecifiedMatching -DOID:11111 hydronephrosis oboInOwl:hasDbXref NCI:C26796 semapv:UnspecifiedMatching -DOID:11111 hydronephrosis oboInOwl:hasDbXref UMLS_CUI:C0020295 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref UMLS_CUI:C0040517 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref NCI:C35078 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref MESH:D005879 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref OMIM:137580 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD10CM:F95.2 semapv:UnspecifiedMatching -DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref GARD:7783 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref EFO:0004895 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref GARD:7783 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD10CM:F95.2 semapv:UnspecifiedMatching DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref ICD9CM:307.23 semapv:UnspecifiedMatching -DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD10CM:F52.6 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref MESH:D005879 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref NCI:C35078 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref OMIM:137580 semapv:UnspecifiedMatching +DOID:11119 Gilles de la Tourette syndrome oboInOwl:hasDbXref UMLS_CUI:C0040517 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD9CM:302.76 semapv:UnspecifiedMatching +DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref ICD10CM:F52.6 semapv:UnspecifiedMatching DOID:11120 psychologic dyspareunia oboInOwl:hasDbXref UMLS_CUI:C0154466 semapv:UnspecifiedMatching -DOID:11121 pulpitis oboInOwl:hasDbXref UMLS_CUI:C0034103 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref NCI:C52595 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref MESH:D011671 semapv:UnspecifiedMatching +DOID:11121 pulpitis oboInOwl:hasDbXref UMLS_CUI:C0034103 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref ICD10CM:K04.0 semapv:UnspecifiedMatching DOID:11121 pulpitis oboInOwl:hasDbXref ICD9CM:522.0 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref UMLS_CUI:C0034152 semapv:UnspecifiedMatching +DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref NCI:C34963 semapv:UnspecifiedMatching +DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref MESH:D011695 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref GARD:8204 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref ICD10CM:D69.0 semapv:UnspecifiedMatching DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref ICD9CM:287.0 semapv:UnspecifiedMatching -DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref MESH:D011695 semapv:UnspecifiedMatching -DOID:11123 Henoch-Schoenlein purpura oboInOwl:hasDbXref NCI:C34963 semapv:UnspecifiedMatching -DOID:11125 qualitative platelet defect oboInOwl:hasDbXref UMLS_CUI:C0235604 semapv:UnspecifiedMatching DOID:11125 qualitative platelet defect oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:11125 qualitative platelet defect oboInOwl:hasDbXref ICD9CM:287.1 semapv:UnspecifiedMatching +DOID:11125 qualitative platelet defect oboInOwl:hasDbXref UMLS_CUI:C0235604 semapv:UnspecifiedMatching DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.5 semapv:UnspecifiedMatching DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.4 semapv:UnspecifiedMatching DOID:11126 acquired thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0154301 semapv:UnspecifiedMatching @@ -13884,27 +13910,27 @@ DOID:11130 secondary hypertension oboInOwl:hasDbXref ICD10CM:I15 semapv:Unspecif DOID:11130 secondary hypertension oboInOwl:hasDbXref ICD9CM:405 semapv:UnspecifiedMatching DOID:11130 secondary hypertension oboInOwl:hasDbXref NCI:C3657 semapv:UnspecifiedMatching DOID:11130 secondary hypertension oboInOwl:hasDbXref UMLS_CUI:C0155616 semapv:UnspecifiedMatching +DOID:11133 prostatic cyst oboInOwl:hasDbXref UMLS_CUI:C1443972 semapv:UnspecifiedMatching DOID:11133 prostatic cyst oboInOwl:hasDbXref ICD10CM:N42.83 semapv:UnspecifiedMatching DOID:11133 prostatic cyst oboInOwl:hasDbXref ICD9CM:600.3 semapv:UnspecifiedMatching -DOID:11133 prostatic cyst oboInOwl:hasDbXref UMLS_CUI:C1443972 semapv:UnspecifiedMatching -DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref UMLS_CUI:C0155231 semapv:UnspecifiedMatching -DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref ICD9CM:375.16 semapv:UnspecifiedMatching DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref ICD10CM:H04.16 semapv:UnspecifiedMatching +DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref ICD9CM:375.16 semapv:UnspecifiedMatching +DOID:11134 prolapse of lacrimal gland oboInOwl:hasDbXref UMLS_CUI:C0155231 semapv:UnspecifiedMatching DOID:1114 esophagus sarcoma oboInOwl:hasDbXref NCI:C5341 semapv:UnspecifiedMatching DOID:1114 esophagus sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333466 semapv:UnspecifiedMatching DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref ICD10CM:H40.82 semapv:UnspecifiedMatching DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref ICD9CM:365.81 semapv:UnspecifiedMatching DOID:11148 hypersecretion glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154968 semapv:UnspecifiedMatching +DOID:11149 aqueous misdirection oboInOwl:hasDbXref UMLS_CUI:C1135189 semapv:UnspecifiedMatching DOID:11149 aqueous misdirection oboInOwl:hasDbXref ICD10CM:H40.83 semapv:UnspecifiedMatching DOID:11149 aqueous misdirection oboInOwl:hasDbXref ICD9CM:365.83 semapv:UnspecifiedMatching -DOID:11149 aqueous misdirection oboInOwl:hasDbXref UMLS_CUI:C1135189 semapv:UnspecifiedMatching -DOID:1115 sarcoma oboInOwl:hasDbXref ICD10CM:C49 semapv:UnspecifiedMatching -DOID:1115 sarcoma oboInOwl:hasDbXref ICD9CM:171.9 semapv:UnspecifiedMatching DOID:1115 sarcoma oboInOwl:hasDbXref ICDO:8800/3 semapv:UnspecifiedMatching DOID:1115 sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153519 semapv:UnspecifiedMatching +DOID:1115 sarcoma oboInOwl:hasDbXref ICD10CM:C49 semapv:UnspecifiedMatching +DOID:1115 sarcoma oboInOwl:hasDbXref ICD9CM:171.9 semapv:UnspecifiedMatching +DOID:11151 cholecystolithiasis oboInOwl:hasDbXref MESH:D041761 semapv:UnspecifiedMatching DOID:11151 cholecystolithiasis oboInOwl:hasDbXref NCI:C34443 semapv:UnspecifiedMatching DOID:11151 cholecystolithiasis oboInOwl:hasDbXref UMLS_CUI:C0947622 semapv:UnspecifiedMatching -DOID:11151 cholecystolithiasis oboInOwl:hasDbXref MESH:D041761 semapv:UnspecifiedMatching DOID:11153 miliaria rubra oboInOwl:hasDbXref ICD10CM:L74.0 semapv:UnspecifiedMatching DOID:11153 miliaria rubra oboInOwl:hasDbXref ICD9CM:705.1 semapv:UnspecifiedMatching DOID:11153 miliaria rubra oboInOwl:hasDbXref MESH:D008883 semapv:UnspecifiedMatching @@ -13914,12 +13940,12 @@ DOID:11155 hypohidrosis oboInOwl:hasDbXref MESH:D007007 semapv:UnspecifiedMatchi DOID:11155 hypohidrosis oboInOwl:hasDbXref NCI:C34718 semapv:UnspecifiedMatching DOID:11155 hypohidrosis oboInOwl:hasDbXref UMLS_CUI:C0020620 semapv:UnspecifiedMatching DOID:11155 hypohidrosis skos:exactMatch MESH:D007007 semapv:UnspecifiedMatching -DOID:11156 anhidrosis oboInOwl:hasDbXref UMLS_CUI:C0003028 semapv:UnspecifiedMatching -DOID:11156 anhidrosis oboInOwl:hasDbXref OMIM:206600 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref NCI:C34385 semapv:UnspecifiedMatching -DOID:11156 anhidrosis oboInOwl:hasDbXref ICD9CM:705.0 semapv:UnspecifiedMatching -DOID:11156 anhidrosis oboInOwl:hasDbXref ICD10CM:L74.4 semapv:UnspecifiedMatching +DOID:11156 anhidrosis oboInOwl:hasDbXref OMIM:206600 semapv:UnspecifiedMatching +DOID:11156 anhidrosis oboInOwl:hasDbXref UMLS_CUI:C0003028 semapv:UnspecifiedMatching DOID:11156 anhidrosis oboInOwl:hasDbXref MESH:D007007 semapv:UnspecifiedMatching +DOID:11156 anhidrosis oboInOwl:hasDbXref ICD10CM:L74.4 semapv:UnspecifiedMatching +DOID:11156 anhidrosis oboInOwl:hasDbXref ICD9CM:705.0 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref KEGG:05133 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref MESH:D001885 semapv:UnspecifiedMatching DOID:1116 pertussis oboInOwl:hasDbXref UMLS_CUI:C0006015 semapv:UnspecifiedMatching @@ -13930,14 +13956,14 @@ DOID:11162 respiratory failure oboInOwl:hasDbXref ICD10CM:J96.0 semapv:Unspecifi DOID:11162 respiratory failure oboInOwl:hasDbXref ICD9CM:518.81 semapv:UnspecifiedMatching DOID:11162 respiratory failure oboInOwl:hasDbXref NCI:C27043 semapv:UnspecifiedMatching DOID:11162 respiratory failure oboInOwl:hasDbXref UMLS_CUI:C0264490 semapv:UnspecifiedMatching -DOID:11164 band keratopathy oboInOwl:hasDbXref NCI:C118765 semapv:UnspecifiedMatching -DOID:11164 band keratopathy oboInOwl:hasDbXref MESH:C562399 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref OMIM:217500 semapv:UnspecifiedMatching +DOID:11164 band keratopathy oboInOwl:hasDbXref UMLS_CUI:C0155120 semapv:UnspecifiedMatching +DOID:11164 band keratopathy oboInOwl:hasDbXref NCI:C118765 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref ICD10CM:H18.42 semapv:UnspecifiedMatching DOID:11164 band keratopathy oboInOwl:hasDbXref ICD9CM:371.43 semapv:UnspecifiedMatching -DOID:11164 band keratopathy oboInOwl:hasDbXref UMLS_CUI:C0155120 semapv:UnspecifiedMatching -DOID:11165 common wart oboInOwl:hasDbXref UMLS_CUI:C0043037 semapv:UnspecifiedMatching +DOID:11164 band keratopathy oboInOwl:hasDbXref MESH:C562399 semapv:UnspecifiedMatching DOID:11165 common wart oboInOwl:hasDbXref NCI:C5028 semapv:UnspecifiedMatching +DOID:11165 common wart oboInOwl:hasDbXref UMLS_CUI:C0043037 semapv:UnspecifiedMatching DOID:11166 Human papillomavirus infectious disease oboInOwl:hasDbXref MESH:D030361 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref ICD10CM:A63.0 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref ICD9CM:078.11 semapv:UnspecifiedMatching @@ -13947,189 +13973,189 @@ DOID:11168 anogenital venereal wart oboInOwl:hasDbXref NCI:C4820 semapv:Unspecif DOID:11168 anogenital venereal wart oboInOwl:hasDbXref UMLS_CUI:C0009663 semapv:UnspecifiedMatching DOID:11168 anogenital venereal wart oboInOwl:hasDbXref UMLS_CUI:C0554632 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref UMLS_CUI:C0014306 semapv:UnspecifiedMatching +DOID:11175 enophthalmos oboInOwl:hasDbXref NCI:C79552 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref ICD10CM:H05.4 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref ICD9CM:376.5 semapv:UnspecifiedMatching DOID:11175 enophthalmos oboInOwl:hasDbXref MESH:D015841 semapv:UnspecifiedMatching -DOID:11175 enophthalmos oboInOwl:hasDbXref NCI:C79552 semapv:UnspecifiedMatching -DOID:11177 total internal ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152197 semapv:UnspecifiedMatching DOID:11177 total internal ophthalmoplegia oboInOwl:hasDbXref ICD9CM:367.52 semapv:UnspecifiedMatching +DOID:11177 total internal ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152197 semapv:UnspecifiedMatching DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref ICD10CM:H65 semapv:UnspecifiedMatching DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref ICD9CM:381.4 semapv:UnspecifiedMatching DOID:11180 non-suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0271446 semapv:UnspecifiedMatching DOID:11181 serous glue ear oboInOwl:hasDbXref ICD10CM:H65.2 semapv:UnspecifiedMatching DOID:11181 serous glue ear oboInOwl:hasDbXref ICD9CM:381.1 semapv:UnspecifiedMatching DOID:11181 serous glue ear oboInOwl:hasDbXref UMLS_CUI:C0155421 semapv:UnspecifiedMatching +DOID:11184 acute conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0029668 semapv:UnspecifiedMatching DOID:11184 acute conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.02 semapv:UnspecifiedMatching DOID:11184 acute conjunctivitis oboInOwl:hasDbXref ICD9CM:372.03 semapv:UnspecifiedMatching -DOID:11184 acute conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0029668 semapv:UnspecifiedMatching +DOID:11186 allescheriosis oboInOwl:hasDbXref UMLS_CUI:C0153285 semapv:UnspecifiedMatching DOID:11186 allescheriosis oboInOwl:hasDbXref ICD10CM:B48.2 semapv:UnspecifiedMatching DOID:11186 allescheriosis oboInOwl:hasDbXref ICD9CM:117.6 semapv:UnspecifiedMatching -DOID:11186 allescheriosis oboInOwl:hasDbXref UMLS_CUI:C0153285 semapv:UnspecifiedMatching -DOID:11189 pulp degeneration oboInOwl:hasDbXref UMLS_CUI:C0034100 semapv:UnspecifiedMatching -DOID:11189 pulp degeneration oboInOwl:hasDbXref NCI:C34962 semapv:UnspecifiedMatching -DOID:11189 pulp degeneration oboInOwl:hasDbXref ICD9CM:522.2 semapv:UnspecifiedMatching DOID:11189 pulp degeneration oboInOwl:hasDbXref ICD10CM:K04.2 semapv:UnspecifiedMatching +DOID:11189 pulp degeneration oboInOwl:hasDbXref ICD9CM:522.2 semapv:UnspecifiedMatching +DOID:11189 pulp degeneration oboInOwl:hasDbXref NCI:C34962 semapv:UnspecifiedMatching +DOID:11189 pulp degeneration oboInOwl:hasDbXref UMLS_CUI:C0034100 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.22 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref ICD9CM:372.04 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref NCI:C35196 semapv:UnspecifiedMatching DOID:11190 pseudomembranous conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155144 semapv:UnspecifiedMatching +DOID:11193 syndactyly oboInOwl:hasDbXref NCI:C87125 semapv:UnspecifiedMatching +DOID:11193 syndactyly skos:exactMatch MESH:D013576 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref UMLS_CUI:C0039075 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:93403 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:90025 semapv:UnspecifiedMatching -DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:295012 semapv:UnspecifiedMatching -DOID:11193 syndactyly skos:exactMatch MESH:D013576 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref MESH:D013576 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ICD9CM:755.1 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref ICD10CM:Q70 semapv:UnspecifiedMatching DOID:11193 syndactyly oboInOwl:hasDbXref GARD:13181 semapv:UnspecifiedMatching -DOID:11193 syndactyly oboInOwl:hasDbXref NCI:C87125 semapv:UnspecifiedMatching +DOID:11193 syndactyly oboInOwl:hasDbXref ORDO:295012 semapv:UnspecifiedMatching DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref ICD10CM:J06.0 semapv:UnspecifiedMatching DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref ICD9CM:465.0 semapv:UnspecifiedMatching DOID:11195 acute laryngopharyngitis oboInOwl:hasDbXref UMLS_CUI:C0155817 semapv:UnspecifiedMatching -DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref UMLS_CUI:C0155142 semapv:UnspecifiedMatching DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref ICD9CM:372.01 semapv:UnspecifiedMatching DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref ICD10CM:H10.23 semapv:UnspecifiedMatching +DOID:11197 serous conjunctivitis except viral oboInOwl:hasDbXref UMLS_CUI:C0155142 semapv:UnspecifiedMatching +DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref NCI:C2989 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref UMLS_CUI:C0012236 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref GARD:10299 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD10CM:D82.1 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD9CM:279.11 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching -DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref NCI:C2989 semapv:UnspecifiedMatching DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ORDO:2238 semapv:UnspecifiedMatching +DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD10CM:D82.1 semapv:UnspecifiedMatching +DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref GARD:10299 semapv:UnspecifiedMatching +DOID:11198 DiGeorge syndrome oboInOwl:hasDbXref ICD9CM:279.11 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref GARD:6733 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD9CM:252.1 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref MESH:D007011 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref NCI:C78350 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref OMIM:307700 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism skos:exactMatch MESH:D007011 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ORDO:2238 semapv:UnspecifiedMatching DOID:11199 hypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020626 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref OMIM:146200 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref NCI:C78350 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref MESH:D007011 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD9CM:252.1 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20 semapv:UnspecifiedMatching -DOID:11199 hypoparathyroidism oboInOwl:hasDbXref GARD:6733 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref GARD:6384 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref ICD10CM:I85.01 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.0 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.2 semapv:UnspecifiedMatching +DOID:11199 hypoparathyroidism skos:exactMatch MESH:D007011 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155792 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155791 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155789 semapv:UnspecifiedMatching DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.20 semapv:UnspecifiedMatching DOID:112 esophageal varix oboInOwl:hasDbXref NCI:C78282 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155789 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155791 semapv:UnspecifiedMatching -DOID:112 esophageal varix oboInOwl:hasDbXref UMLS_CUI:C0155792 semapv:UnspecifiedMatching -DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS_CUI:C1274233 semapv:UnspecifiedMatching -DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS_CUI:C1333147 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.0 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref ICD10CM:I85.01 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref GARD:6384 semapv:UnspecifiedMatching +DOID:112 esophageal varix oboInOwl:hasDbXref ICD9CM:456.2 semapv:UnspecifiedMatching DOID:11200 T cell deficiency oboInOwl:hasDbXref NCI:C27145 semapv:UnspecifiedMatching DOID:11200 T cell deficiency oboInOwl:hasDbXref NCI:C27872 semapv:UnspecifiedMatching +DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS_CUI:C1274233 semapv:UnspecifiedMatching +DOID:11200 T cell deficiency oboInOwl:hasDbXref UMLS_CUI:C1333147 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref ICD10CM:E21.5 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref ICD9CM:252.9 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref MESH:D010279 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref NCI:C26844 semapv:UnspecifiedMatching DOID:11201 parathyroid gland disease oboInOwl:hasDbXref UMLS_CUI:C0030517 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0271846 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0221002 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ORDO:99878 semapv:UnspecifiedMatching +DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0271846 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref OMIM:600166 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.0 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref MESH:D049950 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.01 semapv:UnspecifiedMatching -DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref GARD:8612 semapv:UnspecifiedMatching +DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref MESH:D049950 semapv:UnspecifiedMatching DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref NCI:C48280 semapv:UnspecifiedMatching -DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref UMLS_CUI:C0001309 semapv:UnspecifiedMatching -DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref NCI:C34353 semapv:UnspecifiedMatching +DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref GARD:8612 semapv:UnspecifiedMatching +DOID:11202 primary hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.0 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref ICD10CM:H10.1 semapv:UnspecifiedMatching DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref ICD9CM:372.05 semapv:UnspecifiedMatching +DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref NCI:C34353 semapv:UnspecifiedMatching +DOID:11203 Angelucci's syndrome oboInOwl:hasDbXref UMLS_CUI:C0001309 semapv:UnspecifiedMatching DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref MESH:D003233 semapv:UnspecifiedMatching DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref NCI:C34506 semapv:UnspecifiedMatching DOID:11204 allergic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009766 semapv:UnspecifiedMatching +DOID:11206 opioid abuse oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref ICD10CM:F11.1 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref ICD9CM:305.5 semapv:UnspecifiedMatching -DOID:11206 opioid abuse oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching DOID:11206 opioid abuse oboInOwl:hasDbXref UMLS_CUI:C0029095 semapv:UnspecifiedMatching +DOID:11211 buphthalmos oboInOwl:hasDbXref UMLS_CUI:C0311251 semapv:UnspecifiedMatching DOID:11211 buphthalmos oboInOwl:hasDbXref ICD9CM:743.21 semapv:UnspecifiedMatching DOID:11211 buphthalmos oboInOwl:hasDbXref OMIM:231300 semapv:UnspecifiedMatching -DOID:11211 buphthalmos oboInOwl:hasDbXref UMLS_CUI:C0311251 semapv:UnspecifiedMatching -DOID:11212 hydrophthalmos oboInOwl:hasDbXref UMLS_CUI:C0020302 semapv:UnspecifiedMatching -DOID:11212 hydrophthalmos oboInOwl:hasDbXref NCI:C50648 semapv:UnspecifiedMatching -DOID:11212 hydrophthalmos oboInOwl:hasDbXref MESH:D006871 semapv:UnspecifiedMatching DOID:11212 hydrophthalmos oboInOwl:hasDbXref ICD10CM:Q15.0 semapv:UnspecifiedMatching +DOID:11212 hydrophthalmos oboInOwl:hasDbXref MESH:D006871 semapv:UnspecifiedMatching +DOID:11212 hydrophthalmos oboInOwl:hasDbXref NCI:C50648 semapv:UnspecifiedMatching +DOID:11212 hydrophthalmos oboInOwl:hasDbXref UMLS_CUI:C0020302 semapv:UnspecifiedMatching DOID:11213 acute contagious conjunctivitis oboInOwl:hasDbXref NCI:C35704 semapv:UnspecifiedMatching DOID:11213 acute contagious conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C1313983 semapv:UnspecifiedMatching DOID:11217 chronic tympanitis oboInOwl:hasDbXref ICD10CM:H73.1 semapv:UnspecifiedMatching DOID:11217 chronic tympanitis oboInOwl:hasDbXref ICD9CM:384.1 semapv:UnspecifiedMatching DOID:11217 chronic tympanitis oboInOwl:hasDbXref UMLS_CUI:C0395849 semapv:UnspecifiedMatching +DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref UMLS_CUI:C0155143 semapv:UnspecifiedMatching DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref ICD10CM:H10.01 semapv:UnspecifiedMatching DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref ICD9CM:372.02 semapv:UnspecifiedMatching -DOID:11219 conjunctival folliculosis oboInOwl:hasDbXref UMLS_CUI:C0155143 semapv:UnspecifiedMatching DOID:11223 small intestine diverticulitis oboInOwl:hasDbXref UMLS_CUI:C0267502 semapv:UnspecifiedMatching -DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref NCI:C34505 semapv:UnspecifiedMatching -DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009765 semapv:UnspecifiedMatching DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref ICD9CM:077.4 semapv:UnspecifiedMatching DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref MESH:D003232 semapv:UnspecifiedMatching -DOID:1123 spondyloarthropathy oboInOwl:hasDbXref UMLS_CUI:C0949691 semapv:UnspecifiedMatching +DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref NCI:C34505 semapv:UnspecifiedMatching +DOID:11227 acute hemorrhagic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009765 semapv:UnspecifiedMatching DOID:1123 spondyloarthropathy oboInOwl:hasDbXref GARD:4971 semapv:UnspecifiedMatching DOID:1123 spondyloarthropathy oboInOwl:hasDbXref MESH:D025242 semapv:UnspecifiedMatching +DOID:1123 spondyloarthropathy oboInOwl:hasDbXref UMLS_CUI:C0949691 semapv:UnspecifiedMatching DOID:11230 acute orbital inflammation oboInOwl:hasDbXref ICD10CM:H05.0 semapv:UnspecifiedMatching DOID:11230 acute orbital inflammation oboInOwl:hasDbXref ICD9CM:376.0 semapv:UnspecifiedMatching DOID:11230 acute orbital inflammation oboInOwl:hasDbXref UMLS_CUI:C0155256 semapv:UnspecifiedMatching DOID:11231 orbital periostitis oboInOwl:hasDbXref ICD10CM:H05.03 semapv:UnspecifiedMatching DOID:11231 orbital periostitis oboInOwl:hasDbXref ICD9CM:376.02 semapv:UnspecifiedMatching DOID:11231 orbital periostitis oboInOwl:hasDbXref UMLS_CUI:C0155257 semapv:UnspecifiedMatching +DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref UMLS_CUI:C0155258 semapv:UnspecifiedMatching DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref ICD10CM:H05.02 semapv:UnspecifiedMatching DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref ICD9CM:376.03 semapv:UnspecifiedMatching -DOID:11232 orbital osteomyelitis oboInOwl:hasDbXref UMLS_CUI:C0155258 semapv:UnspecifiedMatching DOID:11233 orbital tenonitis oboInOwl:hasDbXref ICD9CM:376.04 semapv:UnspecifiedMatching DOID:11233 orbital tenonitis oboInOwl:hasDbXref UMLS_CUI:C0155259 semapv:UnspecifiedMatching -DOID:11234 orbital cellulitis oboInOwl:hasDbXref NCI:C99000 semapv:UnspecifiedMatching -DOID:11234 orbital cellulitis oboInOwl:hasDbXref UMLS_CUI:C0149507 semapv:UnspecifiedMatching -DOID:11234 orbital cellulitis oboInOwl:hasDbXref ICD9CM:376.01 semapv:UnspecifiedMatching DOID:11234 orbital cellulitis oboInOwl:hasDbXref ICD10CM:H05.01 semapv:UnspecifiedMatching +DOID:11234 orbital cellulitis oboInOwl:hasDbXref ICD9CM:376.01 semapv:UnspecifiedMatching DOID:11234 orbital cellulitis oboInOwl:hasDbXref MESH:D054517 semapv:UnspecifiedMatching +DOID:11234 orbital cellulitis oboInOwl:hasDbXref NCI:C99000 semapv:UnspecifiedMatching +DOID:11234 orbital cellulitis oboInOwl:hasDbXref UMLS_CUI:C0149507 semapv:UnspecifiedMatching DOID:11235 adhesive otitis media oboInOwl:hasDbXref ICD10CM:H74.1 semapv:UnspecifiedMatching DOID:11235 adhesive otitis media oboInOwl:hasDbXref ICD9CM:385.1 semapv:UnspecifiedMatching DOID:11235 adhesive otitis media oboInOwl:hasDbXref UMLS_CUI:C0155478 semapv:UnspecifiedMatching -DOID:11239 appendix cancer oboInOwl:hasDbXref ICD10CM:C18.1 semapv:UnspecifiedMatching -DOID:11239 appendix cancer oboInOwl:hasDbXref ICD9CM:153.5 semapv:UnspecifiedMatching -DOID:11239 appendix cancer oboInOwl:hasDbXref MESH:D001063 semapv:UnspecifiedMatching DOID:11239 appendix cancer oboInOwl:hasDbXref NCI:C9333 semapv:UnspecifiedMatching DOID:11239 appendix cancer oboInOwl:hasDbXref UMLS_CUI:C0496779 semapv:UnspecifiedMatching -DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref NCI:C4434 semapv:UnspecifiedMatching +DOID:11239 appendix cancer oboInOwl:hasDbXref MESH:D001063 semapv:UnspecifiedMatching +DOID:11239 appendix cancer oboInOwl:hasDbXref ICD9CM:153.5 semapv:UnspecifiedMatching +DOID:11239 appendix cancer oboInOwl:hasDbXref ICD10CM:C18.1 semapv:UnspecifiedMatching DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref MESH:D001063 semapv:UnspecifiedMatching +DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref NCI:C4434 semapv:UnspecifiedMatching DOID:11240 appendiceal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0003614 semapv:UnspecifiedMatching -DOID:11241 appendix lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332328 semapv:UnspecifiedMatching DOID:11241 appendix lymphoma oboInOwl:hasDbXref NCI:C5513 semapv:UnspecifiedMatching -DOID:11242 plethora of newborn oboInOwl:hasDbXref UMLS_CUI:C0272153 semapv:UnspecifiedMatching -DOID:11242 plethora of newborn oboInOwl:hasDbXref NCI:C27069 semapv:UnspecifiedMatching +DOID:11241 appendix lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332328 semapv:UnspecifiedMatching DOID:11242 plethora of newborn oboInOwl:hasDbXref ICD10CM:P61.1 semapv:UnspecifiedMatching DOID:11242 plethora of newborn oboInOwl:hasDbXref ICD9CM:776.4 semapv:UnspecifiedMatching -DOID:11243 anemia of prematurity oboInOwl:hasDbXref ICD10CM:P61.2 semapv:UnspecifiedMatching -DOID:11243 anemia of prematurity oboInOwl:hasDbXref ICD9CM:776.6 semapv:UnspecifiedMatching +DOID:11242 plethora of newborn oboInOwl:hasDbXref NCI:C27069 semapv:UnspecifiedMatching +DOID:11242 plethora of newborn oboInOwl:hasDbXref UMLS_CUI:C0272153 semapv:UnspecifiedMatching DOID:11243 anemia of prematurity oboInOwl:hasDbXref NCI:C97167 semapv:UnspecifiedMatching DOID:11243 anemia of prematurity oboInOwl:hasDbXref UMLS_CUI:C0158996 semapv:UnspecifiedMatching +DOID:11243 anemia of prematurity oboInOwl:hasDbXref ICD10CM:P61.2 semapv:UnspecifiedMatching +DOID:11243 anemia of prematurity oboInOwl:hasDbXref ICD9CM:776.6 semapv:UnspecifiedMatching DOID:11244 neonatal anemia oboInOwl:hasDbXref MESH:D000751 semapv:UnspecifiedMatching DOID:11244 neonatal anemia oboInOwl:hasDbXref UMLS_CUI:C0002891 semapv:UnspecifiedMatching DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref ICD10CM:P61.5 semapv:UnspecifiedMatching DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref ICD9CM:776.7 semapv:UnspecifiedMatching DOID:11245 transient neonatal neutropenia oboInOwl:hasDbXref UMLS_CUI:C0158997 semapv:UnspecifiedMatching -DOID:11246 DIC in newborn oboInOwl:hasDbXref UMLS_CUI:C0158992 semapv:UnspecifiedMatching -DOID:11246 DIC in newborn oboInOwl:hasDbXref NCI:C111856 semapv:UnspecifiedMatching -DOID:11246 DIC in newborn oboInOwl:hasDbXref ICD9CM:776.2 semapv:UnspecifiedMatching DOID:11246 DIC in newborn oboInOwl:hasDbXref ICD10CM:P60 semapv:UnspecifiedMatching +DOID:11246 DIC in newborn oboInOwl:hasDbXref ICD9CM:776.2 semapv:UnspecifiedMatching +DOID:11246 DIC in newborn oboInOwl:hasDbXref NCI:C111856 semapv:UnspecifiedMatching +DOID:11246 DIC in newborn oboInOwl:hasDbXref UMLS_CUI:C0158992 semapv:UnspecifiedMatching +DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref NCI:C2992 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref ICD10CM:D65 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref ICD9CM:286.6 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref MESH:D004211 semapv:UnspecifiedMatching -DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref NCI:C2992 semapv:UnspecifiedMatching DOID:11247 disseminated intravascular coagulation oboInOwl:hasDbXref UMLS_CUI:C0012739 semapv:UnspecifiedMatching -DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref ICD10CM:E56.1 semapv:UnspecifiedMatching -DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref ICD9CM:269.0 semapv:UnspecifiedMatching -DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref MESH:D014813 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref NCI:C99108 semapv:UnspecifiedMatching +DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref MESH:D014813 semapv:UnspecifiedMatching DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref UMLS_CUI:C0042880 semapv:UnspecifiedMatching -DOID:11252 microcytic anemia oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching +DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref ICD10CM:E56.1 semapv:UnspecifiedMatching +DOID:11249 vitamin K deficiency bleeding oboInOwl:hasDbXref ICD9CM:269.0 semapv:UnspecifiedMatching DOID:11252 microcytic anemia oboInOwl:hasDbXref MESH:C562385 semapv:UnspecifiedMatching +DOID:11252 microcytic anemia oboInOwl:hasDbXref OMIM:206200 semapv:UnspecifiedMatching DOID:11252 microcytic anemia oboInOwl:hasDbXref UMLS_CUI:C0085576 semapv:UnspecifiedMatching -DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref UMLS_CUI:C0006181 semapv:UnspecifiedMatching -DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching -DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD9CM:081.1 semapv:UnspecifiedMatching DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD10CM:A75.1 semapv:UnspecifiedMatching +DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref ICD9CM:081.1 semapv:UnspecifiedMatching +DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching +DOID:11254 Brill-Zinsser disease oboInOwl:hasDbXref UMLS_CUI:C0006181 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref UMLS_CUI:C0041473 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref UMLS_CUI:C0041472 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref UMLS_CUI:C0041471 semapv:UnspecifiedMatching @@ -14137,23 +14163,23 @@ DOID:11256 typhus oboInOwl:hasDbXref NCI:C84689 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref NCI:C84688 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref MESH:D014438 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref MESH:D014437 semapv:UnspecifiedMatching +DOID:11256 typhus oboInOwl:hasDbXref ICD9CM:081.9 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD9CM:081.0 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD9CM:080 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD10CM:A75.9 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD10CM:A75.2 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref ICD10CM:A75.0 semapv:UnspecifiedMatching DOID:11256 typhus oboInOwl:hasDbXref GARD:7833 semapv:UnspecifiedMatching -DOID:11256 typhus oboInOwl:hasDbXref ICD9CM:081.9 semapv:UnspecifiedMatching -DOID:11257 social phobia oboInOwl:hasDbXref UMLS_CUI:C0031572 semapv:UnspecifiedMatching -DOID:11257 social phobia oboInOwl:hasDbXref NCI:C34927 semapv:UnspecifiedMatching -DOID:11257 social phobia oboInOwl:hasDbXref ICD9CM:300.23 semapv:UnspecifiedMatching DOID:11257 social phobia oboInOwl:hasDbXref ICD10CM:F40.1 semapv:UnspecifiedMatching +DOID:11257 social phobia oboInOwl:hasDbXref ICD9CM:300.23 semapv:UnspecifiedMatching DOID:11257 social phobia oboInOwl:hasDbXref MESH:D000072861 semapv:UnspecifiedMatching -DOID:11258 cat-scratch disease oboInOwl:hasDbXref ICD10CM:A28.1 semapv:UnspecifiedMatching -DOID:11258 cat-scratch disease oboInOwl:hasDbXref ICD9CM:078.3 semapv:UnspecifiedMatching -DOID:11258 cat-scratch disease oboInOwl:hasDbXref MESH:D002372 semapv:UnspecifiedMatching +DOID:11257 social phobia oboInOwl:hasDbXref NCI:C34927 semapv:UnspecifiedMatching +DOID:11257 social phobia oboInOwl:hasDbXref UMLS_CUI:C0031572 semapv:UnspecifiedMatching DOID:11258 cat-scratch disease oboInOwl:hasDbXref NCI:C84620 semapv:UnspecifiedMatching +DOID:11258 cat-scratch disease oboInOwl:hasDbXref MESH:D002372 semapv:UnspecifiedMatching DOID:11258 cat-scratch disease oboInOwl:hasDbXref UMLS_CUI:C0007361 semapv:UnspecifiedMatching +DOID:11258 cat-scratch disease oboInOwl:hasDbXref ICD10CM:A28.1 semapv:UnspecifiedMatching +DOID:11258 cat-scratch disease oboInOwl:hasDbXref ICD9CM:078.3 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref GARD:7516 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref ICD10CM:A82 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref ICD9CM:071 semapv:UnspecifiedMatching @@ -14162,155 +14188,155 @@ DOID:11260 rabies oboInOwl:hasDbXref NCI:C28182 semapv:UnspecifiedMatching DOID:11260 rabies oboInOwl:hasDbXref UMLS_CUI:C0034494 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref UMLS_CUI:C0029291 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref NCI:C34873 semapv:UnspecifiedMatching -DOID:11262 ornithosis oboInOwl:hasDbXref ICD10CM:A70 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref ICD9CM:073 semapv:UnspecifiedMatching +DOID:11262 ornithosis oboInOwl:hasDbXref ICD10CM:A70 semapv:UnspecifiedMatching DOID:11262 ornithosis oboInOwl:hasDbXref MESH:D009956 semapv:UnspecifiedMatching DOID:11263 chlamydia oboInOwl:hasDbXref MESH:D002689 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref GARD:10374 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71.0 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71.1 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076.0 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076.1 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref MESH:D014141 semapv:UnspecifiedMatching -DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0040592 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0153107 semapv:UnspecifiedMatching DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0153108 semapv:UnspecifiedMatching -DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref UMLS_CUI:C0019101 semapv:UnspecifiedMatching -DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref NCI:C84753 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref UMLS_CUI:C0040592 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076.1 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71.1 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref ICD10CM:A71.0 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref GARD:10374 semapv:UnspecifiedMatching +DOID:11265 trachoma oboInOwl:hasDbXref ICD9CM:076.0 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref ICD10CM:A98.5 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref ICD9CM:078.6 semapv:UnspecifiedMatching DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref MESH:D006480 semapv:UnspecifiedMatching -DOID:11267 keratomalacia oboInOwl:hasDbXref GARD:6825 semapv:UnspecifiedMatching -DOID:11267 keratomalacia oboInOwl:hasDbXref ICD10CM:H18.44 semapv:UnspecifiedMatching -DOID:11267 keratomalacia oboInOwl:hasDbXref ICD9CM:371.45 semapv:UnspecifiedMatching -DOID:11267 keratomalacia oboInOwl:hasDbXref MESH:C536156 semapv:UnspecifiedMatching +DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref NCI:C84753 semapv:UnspecifiedMatching +DOID:11266 Hantavirus hemorrhagic fever with renal syndrome oboInOwl:hasDbXref UMLS_CUI:C0019101 semapv:UnspecifiedMatching DOID:11267 keratomalacia oboInOwl:hasDbXref UMLS_CUI:C0152455 semapv:UnspecifiedMatching +DOID:11267 keratomalacia oboInOwl:hasDbXref MESH:C536156 semapv:UnspecifiedMatching +DOID:11267 keratomalacia oboInOwl:hasDbXref ICD9CM:371.45 semapv:UnspecifiedMatching +DOID:11267 keratomalacia oboInOwl:hasDbXref ICD10CM:H18.44 semapv:UnspecifiedMatching +DOID:11267 keratomalacia oboInOwl:hasDbXref GARD:6825 semapv:UnspecifiedMatching DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref ICD10CM:K04.5 semapv:UnspecifiedMatching DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref ICD9CM:522.6 semapv:UnspecifiedMatching DOID:11269 chronic apical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0392492 semapv:UnspecifiedMatching -DOID:11277 Plummer's disease oboInOwl:hasDbXref UMLS_CUI:C0342127 semapv:UnspecifiedMatching -DOID:11277 Plummer's disease oboInOwl:hasDbXref NCI:C35171 semapv:UnspecifiedMatching DOID:11277 Plummer's disease oboInOwl:hasDbXref ICD10CM:E05.2 semapv:UnspecifiedMatching DOID:11277 Plummer's disease oboInOwl:hasDbXref ICD9CM:242.3 semapv:UnspecifiedMatching +DOID:11277 Plummer's disease oboInOwl:hasDbXref NCI:C35171 semapv:UnspecifiedMatching +DOID:11277 Plummer's disease oboInOwl:hasDbXref UMLS_CUI:C0342127 semapv:UnspecifiedMatching DOID:11282 solar retinopathy oboInOwl:hasDbXref ICD10CM:H31.02 semapv:UnspecifiedMatching DOID:11282 solar retinopathy oboInOwl:hasDbXref ICD9CM:363.31 semapv:UnspecifiedMatching DOID:11282 solar retinopathy oboInOwl:hasDbXref UMLS_CUI:C0152131 semapv:UnspecifiedMatching DOID:11283 peripheral scars of retina oboInOwl:hasDbXref ICD9CM:363.34 semapv:UnspecifiedMatching DOID:11283 peripheral scars of retina oboInOwl:hasDbXref UMLS_CUI:C0154888 semapv:UnspecifiedMatching +DOID:11285 tick paralysis skos:exactMatch MESH:D013985 semapv:UnspecifiedMatching +DOID:11285 tick paralysis oboInOwl:hasDbXref UMLS_CUI:C0040197 semapv:UnspecifiedMatching DOID:11285 tick paralysis oboInOwl:hasDbXref GARD:7771 semapv:UnspecifiedMatching DOID:11285 tick paralysis oboInOwl:hasDbXref MESH:D013985 semapv:UnspecifiedMatching -DOID:11285 tick paralysis oboInOwl:hasDbXref UMLS_CUI:C0040197 semapv:UnspecifiedMatching -DOID:11285 tick paralysis skos:exactMatch MESH:D013985 semapv:UnspecifiedMatching DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref ICD10CM:J67.7 semapv:UnspecifiedMatching DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref ICD9CM:495.7 semapv:UnspecifiedMatching DOID:11289 ventilation pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0155891 semapv:UnspecifiedMatching -DOID:1129 pituitary apoplexy oboInOwl:hasDbXref UMLS_CUI:C0032001 semapv:UnspecifiedMatching DOID:1129 pituitary apoplexy oboInOwl:hasDbXref MESH:D010899 semapv:UnspecifiedMatching DOID:1129 pituitary apoplexy oboInOwl:hasDbXref NCI:C26853 semapv:UnspecifiedMatching +DOID:1129 pituitary apoplexy oboInOwl:hasDbXref UMLS_CUI:C0032001 semapv:UnspecifiedMatching +DOID:11294 arteriovenous malformation oboInOwl:hasDbXref UMLS_CUI:C0334533 semapv:UnspecifiedMatching DOID:11294 arteriovenous malformation oboInOwl:hasDbXref ICD10CM:I77.0 semapv:UnspecifiedMatching DOID:11294 arteriovenous malformation oboInOwl:hasDbXref ICDO:9123/0 semapv:UnspecifiedMatching DOID:11294 arteriovenous malformation oboInOwl:hasDbXref NCI:C2882 semapv:UnspecifiedMatching -DOID:11294 arteriovenous malformation oboInOwl:hasDbXref UMLS_CUI:C0334533 semapv:UnspecifiedMatching -DOID:11295 retinal microaneurysm oboInOwl:hasDbXref ICD9CM:362.14 semapv:UnspecifiedMatching DOID:11295 retinal microaneurysm oboInOwl:hasDbXref MESH:D000071071 semapv:UnspecifiedMatching DOID:11295 retinal microaneurysm oboInOwl:hasDbXref UMLS_CUI:C0154834 semapv:UnspecifiedMatching +DOID:11295 retinal microaneurysm oboInOwl:hasDbXref ICD9CM:362.14 semapv:UnspecifiedMatching DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref ICD10CM:I65.0 semapv:UnspecifiedMatching DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref ICD9CM:433.2 semapv:UnspecifiedMatching DOID:11299 vertebral artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0155724 semapv:UnspecifiedMatching DOID:1130 pituitary infarct oboInOwl:hasDbXref NCI:C27117 semapv:UnspecifiedMatching DOID:1130 pituitary infarct oboInOwl:hasDbXref UMLS_CUI:C0342405 semapv:UnspecifiedMatching -DOID:11302 cercarial dermatitis oboInOwl:hasDbXref ICD10CM:B65.3 semapv:UnspecifiedMatching -DOID:11302 cercarial dermatitis oboInOwl:hasDbXref UMLS_CUI:C0546996 semapv:UnspecifiedMatching -DOID:11302 cercarial dermatitis oboInOwl:hasDbXref NCI:C34457 semapv:UnspecifiedMatching DOID:11302 cercarial dermatitis oboInOwl:hasDbXref GARD:9747 semapv:UnspecifiedMatching +DOID:11302 cercarial dermatitis oboInOwl:hasDbXref ICD10CM:B65.3 semapv:UnspecifiedMatching DOID:11302 cercarial dermatitis oboInOwl:hasDbXref ICD9CM:120.3 semapv:UnspecifiedMatching +DOID:11302 cercarial dermatitis oboInOwl:hasDbXref NCI:C34457 semapv:UnspecifiedMatching +DOID:11302 cercarial dermatitis oboInOwl:hasDbXref UMLS_CUI:C0546996 semapv:UnspecifiedMatching +DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref UMLS_CUI:C0155700 semapv:UnspecifiedMatching DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref ICD9CM:426.12 semapv:UnspecifiedMatching DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref NCI:C62018 semapv:UnspecifiedMatching -DOID:11312 Mobitz type II atrioventricular block oboInOwl:hasDbXref UMLS_CUI:C0155700 semapv:UnspecifiedMatching -DOID:11315 African histoplasmosis oboInOwl:hasDbXref ICD9CM:115.10 semapv:UnspecifiedMatching DOID:11315 African histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0153270 semapv:UnspecifiedMatching +DOID:11315 African histoplasmosis oboInOwl:hasDbXref ICD9CM:115.10 semapv:UnspecifiedMatching DOID:11316 histoplasmosis retinitis oboInOwl:hasDbXref ICD9CM:115.92 semapv:UnspecifiedMatching DOID:11316 histoplasmosis retinitis oboInOwl:hasDbXref UMLS_CUI:C0153278 semapv:UnspecifiedMatching -DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref UMLS_CUI:C0022810 semapv:UnspecifiedMatching -DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref MESH:D007733 semapv:UnspecifiedMatching -DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref ICD9CM:065.2 semapv:UnspecifiedMatching -DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref ICD10CM:A98.2 semapv:UnspecifiedMatching DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref GARD:8257 semapv:UnspecifiedMatching +DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref ICD10CM:A98.2 semapv:UnspecifiedMatching +DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref ICD9CM:065.2 semapv:UnspecifiedMatching +DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref MESH:D007733 semapv:UnspecifiedMatching +DOID:11320 Kyasanur forest disease oboInOwl:hasDbXref UMLS_CUI:C0022810 semapv:UnspecifiedMatching +DOID:11328 schizophreniform disorder oboInOwl:hasDbXref NCI:C94376 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref ICD10CM:F20.81 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref ICD9CM:295.4 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref MESH:D011618 semapv:UnspecifiedMatching -DOID:11328 schizophreniform disorder oboInOwl:hasDbXref NCI:C94376 semapv:UnspecifiedMatching DOID:11328 schizophreniform disorder oboInOwl:hasDbXref UMLS_CUI:C0036358 semapv:UnspecifiedMatching +DOID:11329 ainhum skos:exactMatch MESH:D000387 semapv:UnspecifiedMatching +DOID:11329 ainhum oboInOwl:hasDbXref UMLS_CUI:C0001860 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref OMIM:103400 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref NCI:C84544 semapv:UnspecifiedMatching -DOID:11329 ainhum oboInOwl:hasDbXref MESH:D000387 semapv:UnspecifiedMatching -DOID:11329 ainhum oboInOwl:hasDbXref UMLS_CUI:C0001860 semapv:UnspecifiedMatching +DOID:11329 ainhum oboInOwl:hasDbXref ICD9CM:136.0 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref ICD10CM:L94.6 semapv:UnspecifiedMatching DOID:11329 ainhum oboInOwl:hasDbXref GARD:9512 semapv:UnspecifiedMatching -DOID:11329 ainhum oboInOwl:hasDbXref ICD9CM:136.0 semapv:UnspecifiedMatching -DOID:11329 ainhum skos:exactMatch MESH:D000387 semapv:UnspecifiedMatching -DOID:11330 erysipelas oboInOwl:hasDbXref MESH:D004886 semapv:UnspecifiedMatching -DOID:11330 erysipelas oboInOwl:hasDbXref ICD9CM:035 semapv:UnspecifiedMatching -DOID:11330 erysipelas oboInOwl:hasDbXref UMLS_CUI:C0014733 semapv:UnspecifiedMatching +DOID:11329 ainhum oboInOwl:hasDbXref MESH:D000387 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref GARD:6370 semapv:UnspecifiedMatching DOID:11330 erysipelas oboInOwl:hasDbXref ICD10CM:A46 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref GARD:7607 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref ICD10CM:D86 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref ICD9CM:135 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref MESH:D012507 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref NCI:C34995 semapv:UnspecifiedMatching -DOID:11335 sarcoidosis oboInOwl:hasDbXref ORDO:797 semapv:UnspecifiedMatching +DOID:11330 erysipelas oboInOwl:hasDbXref ICD9CM:035 semapv:UnspecifiedMatching +DOID:11330 erysipelas oboInOwl:hasDbXref MESH:D004886 semapv:UnspecifiedMatching +DOID:11330 erysipelas oboInOwl:hasDbXref UMLS_CUI:C0014733 semapv:UnspecifiedMatching DOID:11335 sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036202 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref ORDO:797 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref NCI:C34995 semapv:UnspecifiedMatching DOID:11335 sarcoidosis skos:exactMatch MESH:D012507 semapv:UnspecifiedMatching -DOID:11336 rhinoscleroma oboInOwl:hasDbXref UMLS_CUI:C0035468 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref ICD9CM:135 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref ICD10CM:D86 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref GARD:7607 semapv:UnspecifiedMatching +DOID:11335 sarcoidosis oboInOwl:hasDbXref MESH:D012507 semapv:UnspecifiedMatching DOID:11336 rhinoscleroma oboInOwl:hasDbXref ICD9CM:040.1 semapv:UnspecifiedMatching DOID:11336 rhinoscleroma oboInOwl:hasDbXref MESH:D012226 semapv:UnspecifiedMatching +DOID:11336 rhinoscleroma oboInOwl:hasDbXref UMLS_CUI:C0035468 semapv:UnspecifiedMatching +DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref UMLS_CUI:C0027537 semapv:UnspecifiedMatching +DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref MESH:D005674 semapv:UnspecifiedMatching DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref GARD:6882 semapv:UnspecifiedMatching DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref ICD9CM:040.3 semapv:UnspecifiedMatching -DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref MESH:D005674 semapv:UnspecifiedMatching -DOID:11337 Lemierre's syndrome oboInOwl:hasDbXref UMLS_CUI:C0027537 semapv:UnspecifiedMatching -DOID:11338 tetanus oboInOwl:hasDbXref NCI:C85185 semapv:UnspecifiedMatching -DOID:11338 tetanus oboInOwl:hasDbXref UMLS_CUI:C0039614 semapv:UnspecifiedMatching -DOID:11338 tetanus oboInOwl:hasDbXref MESH:D013742 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref GARD:5144 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref ICD10CM:A35 semapv:UnspecifiedMatching DOID:11338 tetanus oboInOwl:hasDbXref ICD9CM:037 semapv:UnspecifiedMatching +DOID:11338 tetanus oboInOwl:hasDbXref MESH:D013742 semapv:UnspecifiedMatching +DOID:11338 tetanus oboInOwl:hasDbXref NCI:C85185 semapv:UnspecifiedMatching +DOID:11338 tetanus oboInOwl:hasDbXref UMLS_CUI:C0039614 semapv:UnspecifiedMatching +DOID:11339 pneumocystosis oboInOwl:hasDbXref NCI:C3334 semapv:UnspecifiedMatching +DOID:11339 pneumocystosis oboInOwl:hasDbXref UMLS_CUI:C1535939 semapv:UnspecifiedMatching +DOID:11339 pneumocystosis oboInOwl:hasDbXref MESH:D011020 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref GARD:4386 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref ICD10CM:B59 semapv:UnspecifiedMatching DOID:11339 pneumocystosis oboInOwl:hasDbXref ICD9CM:136.3 semapv:UnspecifiedMatching -DOID:11339 pneumocystosis oboInOwl:hasDbXref MESH:D011020 semapv:UnspecifiedMatching -DOID:11339 pneumocystosis oboInOwl:hasDbXref NCI:C3334 semapv:UnspecifiedMatching -DOID:11339 pneumocystosis oboInOwl:hasDbXref UMLS_CUI:C1535939 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref ICD10CM:K06.0 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref ICD10CM:K06.01 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref ICD9CM:523.2 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref ICD9CM:523.24 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref MESH:D005889 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref NCI:C82068 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref UMLS_CUI:C0266916 semapv:UnspecifiedMatching DOID:1134 gingival recession oboInOwl:hasDbXref UMLS_CUI:C0017572 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref MESH:D005889 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref ICD9CM:523.24 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref ICD9CM:523.2 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref ICD10CM:K06.01 semapv:UnspecifiedMatching -DOID:1134 gingival recession oboInOwl:hasDbXref ICD10CM:K06.0 semapv:UnspecifiedMatching -DOID:11342 arcus senilis oboInOwl:hasDbXref ICD10CM:H18.41 semapv:UnspecifiedMatching -DOID:11342 arcus senilis oboInOwl:hasDbXref MESH:D001112 semapv:UnspecifiedMatching +DOID:1134 gingival recession oboInOwl:hasDbXref UMLS_CUI:C0266916 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref OMIM:107800 semapv:UnspecifiedMatching DOID:11342 arcus senilis oboInOwl:hasDbXref UMLS_CUI:C0003742 semapv:UnspecifiedMatching +DOID:11342 arcus senilis oboInOwl:hasDbXref ICD10CM:H18.41 semapv:UnspecifiedMatching +DOID:11342 arcus senilis oboInOwl:hasDbXref MESH:D001112 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref ICD10CM:H15 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref MESH:D015422 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref NCI:C79717 semapv:UnspecifiedMatching DOID:11343 scleral disease oboInOwl:hasDbXref UMLS_CUI:C0036412 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum oboInOwl:hasDbXref UMLS_CUI:C0156273 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum oboInOwl:hasDbXref OMIM:109820 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum oboInOwl:hasDbXref NCI:C160155 semapv:UnspecifiedMatching -DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD9CM:596.3 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD10CM:N32.3 semapv:UnspecifiedMatching +DOID:11353 bladder diverticulum oboInOwl:hasDbXref ICD9CM:596.3 semapv:UnspecifiedMatching DOID:11353 bladder diverticulum oboInOwl:hasDbXref MESH:C562406 semapv:UnspecifiedMatching +DOID:11353 bladder diverticulum oboInOwl:hasDbXref NCI:C160155 semapv:UnspecifiedMatching +DOID:11353 bladder diverticulum oboInOwl:hasDbXref OMIM:109820 semapv:UnspecifiedMatching +DOID:11353 bladder diverticulum oboInOwl:hasDbXref UMLS_CUI:C0156273 semapv:UnspecifiedMatching +DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref UMLS_CUI:C0156265 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref ICD10CM:N21.0 semapv:UnspecifiedMatching DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref ICD9CM:594.0 semapv:UnspecifiedMatching -DOID:11354 stone in bladder diverticulum oboInOwl:hasDbXref UMLS_CUI:C0156265 semapv:UnspecifiedMatching -DOID:11355 bladder calculus oboInOwl:hasDbXref ICD10CM:N21.0 semapv:UnspecifiedMatching DOID:11355 bladder calculus oboInOwl:hasDbXref MESH:D001744 semapv:UnspecifiedMatching DOID:11355 bladder calculus oboInOwl:hasDbXref UMLS_CUI:C0005683 semapv:UnspecifiedMatching +DOID:11355 bladder calculus oboInOwl:hasDbXref ICD10CM:N21.0 semapv:UnspecifiedMatching DOID:11360 Phlebotomus fever oboInOwl:hasDbXref ICD10CM:A93.1 semapv:UnspecifiedMatching DOID:11360 Phlebotomus fever oboInOwl:hasDbXref ICD9CM:066.0 semapv:UnspecifiedMatching DOID:11360 Phlebotomus fever oboInOwl:hasDbXref MESH:D010217 semapv:UnspecifiedMatching @@ -14318,229 +14344,229 @@ DOID:11360 Phlebotomus fever oboInOwl:hasDbXref UMLS_CUI:C0030372 semapv:Unspeci DOID:11364 lens subluxation skos:exactMatch MESH:D007906 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref UMLS_CUI:C0023316 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref NCI:C34772 semapv:UnspecifiedMatching -DOID:11364 lens subluxation oboInOwl:hasDbXref MESH:D007906 semapv:UnspecifiedMatching -DOID:11364 lens subluxation oboInOwl:hasDbXref ICD10CM:H27.11 semapv:UnspecifiedMatching DOID:11364 lens subluxation oboInOwl:hasDbXref ICD9CM:379.32 semapv:UnspecifiedMatching +DOID:11364 lens subluxation oboInOwl:hasDbXref ICD10CM:H27.11 semapv:UnspecifiedMatching +DOID:11364 lens subluxation oboInOwl:hasDbXref MESH:D007906 semapv:UnspecifiedMatching +DOID:11367 congenital aphakia oboInOwl:hasDbXref UMLS_CUI:C0152422 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref ICD10CM:Q12.3 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref ICD9CM:743.35 semapv:UnspecifiedMatching -DOID:11367 congenital aphakia oboInOwl:hasDbXref NCI:C35172 semapv:UnspecifiedMatching DOID:11367 congenital aphakia oboInOwl:hasDbXref OMIM:610256 semapv:UnspecifiedMatching -DOID:11367 congenital aphakia oboInOwl:hasDbXref UMLS_CUI:C0152422 semapv:UnspecifiedMatching +DOID:11367 congenital aphakia oboInOwl:hasDbXref NCI:C35172 semapv:UnspecifiedMatching +DOID:11371 functional diarrhea oboInOwl:hasDbXref UMLS_CUI:C0156173 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref ICD10CM:K59.1 semapv:UnspecifiedMatching DOID:11371 functional diarrhea oboInOwl:hasDbXref ICD9CM:564.5 semapv:UnspecifiedMatching -DOID:11371 functional diarrhea oboInOwl:hasDbXref UMLS_CUI:C0156173 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref ICD10CM:K59.39 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref MESH:D008531 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref NCI:C34810 semapv:UnspecifiedMatching DOID:11372 megacolon oboInOwl:hasDbXref UMLS_CUI:C0025160 semapv:UnspecifiedMatching +DOID:11374 anal spasm oboInOwl:hasDbXref ICD10CM:K59.4 semapv:UnspecifiedMatching DOID:11374 anal spasm oboInOwl:hasDbXref ICD9CM:564.6 semapv:UnspecifiedMatching DOID:11374 anal spasm oboInOwl:hasDbXref UMLS_CUI:C0152167 semapv:UnspecifiedMatching -DOID:11374 anal spasm oboInOwl:hasDbXref ICD10CM:K59.4 semapv:UnspecifiedMatching -DOID:11379 gnathomiasis oboInOwl:hasDbXref GARD:9286 semapv:UnspecifiedMatching -DOID:11379 gnathomiasis oboInOwl:hasDbXref ICD10CM:B83.1 semapv:UnspecifiedMatching -DOID:11379 gnathomiasis oboInOwl:hasDbXref ICD9CM:128.1 semapv:UnspecifiedMatching +DOID:11379 gnathomiasis oboInOwl:hasDbXref UMLS_CUI:C0018013 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref MESH:D058429 semapv:UnspecifiedMatching DOID:11379 gnathomiasis oboInOwl:hasDbXref NCI:C128395 semapv:UnspecifiedMatching -DOID:11379 gnathomiasis oboInOwl:hasDbXref UMLS_CUI:C0018013 semapv:UnspecifiedMatching -DOID:1138 spinal meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching -DOID:1138 spinal meningioma oboInOwl:hasDbXref GARD:10264 semapv:UnspecifiedMatching -DOID:1138 spinal meningioma oboInOwl:hasDbXref NCI:C6935 semapv:UnspecifiedMatching +DOID:11379 gnathomiasis oboInOwl:hasDbXref ICD10CM:B83.1 semapv:UnspecifiedMatching +DOID:11379 gnathomiasis oboInOwl:hasDbXref GARD:9286 semapv:UnspecifiedMatching +DOID:11379 gnathomiasis oboInOwl:hasDbXref ICD9CM:128.1 semapv:UnspecifiedMatching DOID:1138 spinal meningioma oboInOwl:hasDbXref UMLS_CUI:C0347515 semapv:UnspecifiedMatching +DOID:1138 spinal meningioma oboInOwl:hasDbXref NCI:C6935 semapv:UnspecifiedMatching +DOID:1138 spinal meningioma oboInOwl:hasDbXref GARD:10264 semapv:UnspecifiedMatching +DOID:1138 spinal meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref ICD10CM:H16.4 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref ICD9CM:370.6 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref MESH:D016510 semapv:UnspecifiedMatching DOID:11382 corneal neovascularization oboInOwl:hasDbXref UMLS_CUI:C0085109 semapv:UnspecifiedMatching -DOID:11383 cryptorchidism oboInOwl:hasDbXref OMIM:219050 semapv:UnspecifiedMatching -DOID:11383 cryptorchidism oboInOwl:hasDbXref UMLS_CUI:C0010417 semapv:UnspecifiedMatching -DOID:11383 cryptorchidism oboInOwl:hasDbXref NCI:C12326 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref ICD10CM:Q53.9 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref ICD9CM:752.51 semapv:UnspecifiedMatching DOID:11383 cryptorchidism oboInOwl:hasDbXref MESH:D003456 semapv:UnspecifiedMatching -DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD10CM:F80.1 semapv:UnspecifiedMatching -DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD9CM:315.31 semapv:UnspecifiedMatching +DOID:11383 cryptorchidism oboInOwl:hasDbXref NCI:C12326 semapv:UnspecifiedMatching +DOID:11383 cryptorchidism oboInOwl:hasDbXref OMIM:219050 semapv:UnspecifiedMatching +DOID:11383 cryptorchidism oboInOwl:hasDbXref UMLS_CUI:C0010417 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref NCI:C92562 semapv:UnspecifiedMatching DOID:11385 expressive language disorder oboInOwl:hasDbXref UMLS_CUI:C0236826 semapv:UnspecifiedMatching +DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD10CM:F80.1 semapv:UnspecifiedMatching +DOID:11385 expressive language disorder oboInOwl:hasDbXref ICD9CM:315.31 semapv:UnspecifiedMatching DOID:11387 epidural abscess oboInOwl:hasDbXref MESH:D020802 semapv:UnspecifiedMatching DOID:11387 epidural abscess oboInOwl:hasDbXref UMLS_CUI:C0270629 semapv:UnspecifiedMatching DOID:11389 subdural empyema oboInOwl:hasDbXref MESH:D013354 semapv:UnspecifiedMatching DOID:11389 subdural empyema oboInOwl:hasDbXref UMLS_CUI:C0038539 semapv:UnspecifiedMatching DOID:11390 cerebral arteritis oboInOwl:hasDbXref ICD9CM:437.4 semapv:UnspecifiedMatching DOID:11390 cerebral arteritis oboInOwl:hasDbXref UMLS_CUI:C0007773 semapv:UnspecifiedMatching -DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref UMLS_CUI:C0035222 semapv:UnspecifiedMatching DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref NCI:C3353 semapv:UnspecifiedMatching -DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref ICD10CM:J80 semapv:UnspecifiedMatching -DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref GARD:5698 semapv:UnspecifiedMatching DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref MESH:D012128 semapv:UnspecifiedMatching -DOID:11396 pulmonary edema oboInOwl:hasDbXref ICD10CM:J81 semapv:UnspecifiedMatching +DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref UMLS_CUI:C0035222 semapv:UnspecifiedMatching +DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref GARD:5698 semapv:UnspecifiedMatching +DOID:11394 adult respiratory distress syndrome oboInOwl:hasDbXref ICD10CM:J80 semapv:UnspecifiedMatching DOID:11396 pulmonary edema oboInOwl:hasDbXref MESH:D011654 semapv:UnspecifiedMatching DOID:11396 pulmonary edema oboInOwl:hasDbXref NCI:C26868 semapv:UnspecifiedMatching +DOID:11396 pulmonary edema oboInOwl:hasDbXref ICD10CM:J81 semapv:UnspecifiedMatching DOID:11396 pulmonary edema oboInOwl:hasDbXref UMLS_CUI:C0034063 semapv:UnspecifiedMatching -DOID:114 heart disease oboInOwl:hasDbXref ICD10CM:I51.9 semapv:UnspecifiedMatching -DOID:114 heart disease oboInOwl:hasDbXref ICD9CM:429.9 semapv:UnspecifiedMatching -DOID:114 heart disease oboInOwl:hasDbXref MESH:D006331 semapv:UnspecifiedMatching DOID:114 heart disease oboInOwl:hasDbXref NCI:C3079 semapv:UnspecifiedMatching +DOID:114 heart disease oboInOwl:hasDbXref MESH:D006331 semapv:UnspecifiedMatching DOID:114 heart disease oboInOwl:hasDbXref UMLS_CUI:C0018799 semapv:UnspecifiedMatching +DOID:114 heart disease oboInOwl:hasDbXref ICD10CM:I51.9 semapv:UnspecifiedMatching +DOID:114 heart disease oboInOwl:hasDbXref ICD9CM:429.9 semapv:UnspecifiedMatching DOID:1140 spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5134 semapv:UnspecifiedMatching DOID:1140 spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334264 semapv:UnspecifiedMatching -DOID:11400 pyelonephritis oboInOwl:hasDbXref NCI:C34965 semapv:UnspecifiedMatching -DOID:11400 pyelonephritis oboInOwl:hasDbXref MESH:D011704 semapv:UnspecifiedMatching -DOID:11400 pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0034186 semapv:UnspecifiedMatching DOID:11400 pyelonephritis oboInOwl:hasDbXref ICD10CM:N16 semapv:UnspecifiedMatching DOID:11400 pyelonephritis oboInOwl:hasDbXref ICD9CM:590.80 semapv:UnspecifiedMatching -DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0034188 semapv:UnspecifiedMatching +DOID:11400 pyelonephritis oboInOwl:hasDbXref MESH:D011704 semapv:UnspecifiedMatching +DOID:11400 pyelonephritis oboInOwl:hasDbXref NCI:C34965 semapv:UnspecifiedMatching +DOID:11400 pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0034186 semapv:UnspecifiedMatching DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref MESH:D011705 semapv:UnspecifiedMatching DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref NCI:C123038 semapv:UnspecifiedMatching +DOID:11401 xanthogranulomatous pyelonephritis oboInOwl:hasDbXref UMLS_CUI:C0034188 semapv:UnspecifiedMatching DOID:11405 diphtheria oboInOwl:hasDbXref GARD:1875 semapv:UnspecifiedMatching DOID:11405 diphtheria oboInOwl:hasDbXref MESH:D003354 semapv:UnspecifiedMatching DOID:11405 diphtheria oboInOwl:hasDbXref UMLS_CUI:C0010153 semapv:UnspecifiedMatching -DOID:11406 choroiditis oboInOwl:hasDbXref GARD:6062 semapv:UnspecifiedMatching -DOID:11406 choroiditis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching -DOID:11406 choroiditis oboInOwl:hasDbXref MESH:D002833 semapv:UnspecifiedMatching -DOID:11406 choroiditis oboInOwl:hasDbXref NCI:C35111 semapv:UnspecifiedMatching DOID:11406 choroiditis oboInOwl:hasDbXref UMLS_CUI:C0008526 semapv:UnspecifiedMatching +DOID:11406 choroiditis oboInOwl:hasDbXref NCI:C35111 semapv:UnspecifiedMatching +DOID:11406 choroiditis oboInOwl:hasDbXref MESH:D002833 semapv:UnspecifiedMatching +DOID:11406 choroiditis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching +DOID:11406 choroiditis oboInOwl:hasDbXref GARD:6062 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref ICD10CM:H50.15 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref ICD9CM:378.15 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref MESH:D005099 semapv:UnspecifiedMatching DOID:1142 alternating exotropia oboInOwl:hasDbXref UMLS_CUI:C0152207 semapv:UnspecifiedMatching -DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref UMLS_CUI:C0014177 semapv:UnspecifiedMatching -DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref NCI:C26763 semapv:UnspecifiedMatching DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref ICD10CM:N80.2 semapv:UnspecifiedMatching DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref ICD9CM:617.2 semapv:UnspecifiedMatching +DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref NCI:C26763 semapv:UnspecifiedMatching +DOID:11424 fallopian tube endometriosis oboInOwl:hasDbXref UMLS_CUI:C0014177 semapv:UnspecifiedMatching DOID:11427 endosalpingiosis oboInOwl:hasDbXref NCI:C179646 semapv:UnspecifiedMatching DOID:11427 endosalpingiosis oboInOwl:hasDbXref UMLS_CUI:C0269106 semapv:UnspecifiedMatching DOID:11428 endometriosis of intestine oboInOwl:hasDbXref ICD10CM:N80.5 semapv:UnspecifiedMatching DOID:11428 endometriosis of intestine oboInOwl:hasDbXref ICD9CM:617.5 semapv:UnspecifiedMatching DOID:11428 endometriosis of intestine oboInOwl:hasDbXref UMLS_CUI:C0156347 semapv:UnspecifiedMatching +DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref UMLS_CUI:C0156345 semapv:UnspecifiedMatching DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref ICD10CM:N80.3 semapv:UnspecifiedMatching DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref ICD9CM:617.3 semapv:UnspecifiedMatching -DOID:11429 endometriosis of pelvic peritoneum oboInOwl:hasDbXref UMLS_CUI:C0156345 semapv:UnspecifiedMatching -DOID:1143 exotropia oboInOwl:hasDbXref UMLS_CUI:C0015310 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref ICD10CM:H50.1 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref ICD9CM:378.1 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref MESH:D005099 semapv:UnspecifiedMatching DOID:1143 exotropia oboInOwl:hasDbXref NCI:C34601 semapv:UnspecifiedMatching -DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref UMLS_CUI:C0156348 semapv:UnspecifiedMatching -DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref ICD9CM:617.6 semapv:UnspecifiedMatching +DOID:1143 exotropia oboInOwl:hasDbXref UMLS_CUI:C0015310 semapv:UnspecifiedMatching DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref ICD10CM:N80.6 semapv:UnspecifiedMatching +DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref ICD9CM:617.6 semapv:UnspecifiedMatching +DOID:11430 endometriosis in scar of skin oboInOwl:hasDbXref UMLS_CUI:C0156348 semapv:UnspecifiedMatching DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref ICD10CM:N80.4 semapv:UnspecifiedMatching DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref ICD9CM:617.4 semapv:UnspecifiedMatching DOID:11431 endometriosis of rectovaginal septum and vagina oboInOwl:hasDbXref UMLS_CUI:C0156346 semapv:UnspecifiedMatching +DOID:11432 endometriosis of ovary oboInOwl:hasDbXref UMLS_CUI:C0156344 semapv:UnspecifiedMatching +DOID:11432 endometriosis of ovary oboInOwl:hasDbXref NCI:C27628 semapv:UnspecifiedMatching DOID:11432 endometriosis of ovary oboInOwl:hasDbXref ICD10CM:N80.1 semapv:UnspecifiedMatching DOID:11432 endometriosis of ovary oboInOwl:hasDbXref ICD9CM:617.1 semapv:UnspecifiedMatching -DOID:11432 endometriosis of ovary oboInOwl:hasDbXref NCI:C27628 semapv:UnspecifiedMatching -DOID:11432 endometriosis of ovary oboInOwl:hasDbXref UMLS_CUI:C0156344 semapv:UnspecifiedMatching -DOID:11446 sciatic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0149940 semapv:UnspecifiedMatching DOID:11446 sciatic neuropathy oboInOwl:hasDbXref MESH:D020426 semapv:UnspecifiedMatching +DOID:11446 sciatic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0149940 semapv:UnspecifiedMatching DOID:11452 perinatal jaundice due to hepatocellular damage oboInOwl:hasDbXref ICD9CM:774.4 semapv:UnspecifiedMatching DOID:11452 perinatal jaundice due to hepatocellular damage oboInOwl:hasDbXref UMLS_CUI:C0158976 semapv:UnspecifiedMatching DOID:11457 brain compression oboInOwl:hasDbXref ICD10CM:G93.5 semapv:UnspecifiedMatching DOID:11457 brain compression oboInOwl:hasDbXref ICD9CM:348.4 semapv:UnspecifiedMatching DOID:11457 brain compression oboInOwl:hasDbXref UMLS_CUI:C0009592 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref UMLS_CUI:C0033845 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref NCI:C85035 semapv:UnspecifiedMatching +DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching +DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching +DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref UMLS_CUI:C0033845 semapv:UnspecifiedMatching +DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD10CM:G93.2 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref GARD:4561 semapv:UnspecifiedMatching DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD9CM:348.2 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref ICD10CM:G93.2 semapv:UnspecifiedMatching -DOID:11459 pseudotumor cerebri oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching -DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref ICD9CM:337.1 semapv:UnspecifiedMatching DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0154691 semapv:UnspecifiedMatching +DOID:11465 autonomic nervous system disease oboInOwl:hasDbXref ICD9CM:337.1 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref ICD10CM:C32.2 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref ICD9CM:161.2 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref NCI:C3546 semapv:UnspecifiedMatching DOID:11472 subglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153485 semapv:UnspecifiedMatching -DOID:11476 osteoporosis oboInOwl:hasDbXref OMIM:166710 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref UMLS_CUI:C0029456 semapv:UnspecifiedMatching -DOID:11476 osteoporosis oboInOwl:hasDbXref NCI:C3298 semapv:UnspecifiedMatching +DOID:11476 osteoporosis oboInOwl:hasDbXref OMIM:166710 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref MESH:D010024 semapv:UnspecifiedMatching -DOID:11476 osteoporosis oboInOwl:hasDbXref ICD9CM:733.0 semapv:UnspecifiedMatching +DOID:11476 osteoporosis oboInOwl:hasDbXref NCI:C3298 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref ICD10CM:M81.0 semapv:UnspecifiedMatching DOID:11476 osteoporosis oboInOwl:hasDbXref EFO:0003882 semapv:UnspecifiedMatching +DOID:11476 osteoporosis oboInOwl:hasDbXref ICD9CM:733.0 semapv:UnspecifiedMatching +DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching +DOID:1148 polydactyly oboInOwl:hasDbXref UMLS_CUI:C0220697 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref UMLS_CUI:C0152427 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:603596 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174700 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref OMIM:174200 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref UMLS_CUI:C0220697 semapv:UnspecifiedMatching +DOID:1148 polydactyly oboInOwl:hasDbXref NCI:C87110 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref MESH:D017689 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref MESH:C562429 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref ICD9CM:755.0 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref ICD10CM:Q69 semapv:UnspecifiedMatching DOID:1148 polydactyly oboInOwl:hasDbXref GARD:4410 semapv:UnspecifiedMatching -DOID:1148 polydactyly oboInOwl:hasDbXref NCI:C87110 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref ICD9CM:423.2 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref MESH:D010494 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref NCI:C78246 semapv:UnspecifiedMatching DOID:11481 constrictive pericarditis oboInOwl:hasDbXref UMLS_CUI:C0031048 semapv:UnspecifiedMatching -DOID:11482 hemopericardium oboInOwl:hasDbXref UMLS_CUI:C0019064 semapv:UnspecifiedMatching -DOID:11482 hemopericardium oboInOwl:hasDbXref NCI:C111644 semapv:UnspecifiedMatching DOID:11482 hemopericardium oboInOwl:hasDbXref ICD9CM:423.0 semapv:UnspecifiedMatching DOID:11482 hemopericardium oboInOwl:hasDbXref MESH:D010490 semapv:UnspecifiedMatching +DOID:11482 hemopericardium oboInOwl:hasDbXref NCI:C111644 semapv:UnspecifiedMatching +DOID:11482 hemopericardium oboInOwl:hasDbXref UMLS_CUI:C0019064 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref UMLS_CUI:C0019937 semapv:UnspecifiedMatching +DOID:11486 Horner's syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching +DOID:11486 Horner's syndrome oboInOwl:hasDbXref NCI:C28155 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref GARD:6670 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref ICD10CM:G90.2 semapv:UnspecifiedMatching DOID:11486 Horner's syndrome oboInOwl:hasDbXref MESH:D006732 semapv:UnspecifiedMatching -DOID:11486 Horner's syndrome oboInOwl:hasDbXref NCI:C28155 semapv:UnspecifiedMatching -DOID:11486 Horner's syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching +DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD10CM:G90.0 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD9CM:337.0 semapv:UnspecifiedMatching DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0154690 semapv:UnspecifiedMatching -DOID:11488 idiopathic peripheral autonomic neuropathy oboInOwl:hasDbXref ICD10CM:G90.0 semapv:UnspecifiedMatching DOID:11491 acquired night blindness oboInOwl:hasDbXref ICD10CM:H53.62 semapv:UnspecifiedMatching DOID:11491 acquired night blindness oboInOwl:hasDbXref ICD9CM:368.62 semapv:UnspecifiedMatching DOID:11491 acquired night blindness oboInOwl:hasDbXref UMLS_CUI:C0152202 semapv:UnspecifiedMatching +DOID:115 cardiac tamponade oboInOwl:hasDbXref UMLS_CUI:C0007177 semapv:UnspecifiedMatching +DOID:115 cardiac tamponade oboInOwl:hasDbXref NCI:C50481 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref ICD10CM:I31.4 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref ICD9CM:423.3 semapv:UnspecifiedMatching DOID:115 cardiac tamponade oboInOwl:hasDbXref MESH:D002305 semapv:UnspecifiedMatching -DOID:115 cardiac tamponade oboInOwl:hasDbXref NCI:C50481 semapv:UnspecifiedMatching -DOID:115 cardiac tamponade oboInOwl:hasDbXref UMLS_CUI:C0007177 semapv:UnspecifiedMatching -DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0264774 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0026266 semapv:UnspecifiedMatching -DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref NCI:C50888 semapv:UnspecifiedMatching +DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0264774 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0158619 semapv:UnspecifiedMatching +DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref NCI:C50888 semapv:UnspecifiedMatching +DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD10CM:Q23.3 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD9CM:746.6 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD9CM:396.3 semapv:UnspecifiedMatching DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref MESH:D008944 semapv:UnspecifiedMatching -DOID:11502 mitral valve insufficiency oboInOwl:hasDbXref ICD10CM:Q23.3 semapv:UnspecifiedMatching DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref MESH:D003929 semapv:UnspecifiedMatching DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref NCI:C27068 semapv:UnspecifiedMatching DOID:11503 diabetic autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0271686 semapv:UnspecifiedMatching -DOID:11504 autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0259749 semapv:UnspecifiedMatching DOID:11504 autonomic neuropathy oboInOwl:hasDbXref NCI:C27033 semapv:UnspecifiedMatching +DOID:11504 autonomic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0259749 semapv:UnspecifiedMatching +DOID:11506 suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0029888 semapv:UnspecifiedMatching +DOID:11506 suppurative otitis media oboInOwl:hasDbXref MESH:D010035 semapv:UnspecifiedMatching DOID:11506 suppurative otitis media oboInOwl:hasDbXref ICD10CM:H66.4 semapv:UnspecifiedMatching DOID:11506 suppurative otitis media oboInOwl:hasDbXref ICD9CM:382.4 semapv:UnspecifiedMatching -DOID:11506 suppurative otitis media oboInOwl:hasDbXref MESH:D010035 semapv:UnspecifiedMatching -DOID:11506 suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0029888 semapv:UnspecifiedMatching -DOID:11507 rumination disorder oboInOwl:hasDbXref NCI:C92567 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref GARD:7594 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref ICD9CM:307.53 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref MESH:D000079562 semapv:UnspecifiedMatching +DOID:11507 rumination disorder oboInOwl:hasDbXref NCI:C92567 semapv:UnspecifiedMatching DOID:11507 rumination disorder oboInOwl:hasDbXref UMLS_CUI:C0154575 semapv:UnspecifiedMatching -DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS_CUI:C0019154 semapv:UnspecifiedMatching -DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref ICD10CM:I82.0 semapv:UnspecifiedMatching DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref MESH:D006502 semapv:UnspecifiedMatching -DOID:11514 fissured tongue oboInOwl:hasDbXref ICD10CM:K14.5 semapv:UnspecifiedMatching -DOID:11514 fissured tongue oboInOwl:hasDbXref ICD9CM:529.5 semapv:UnspecifiedMatching -DOID:11514 fissured tongue oboInOwl:hasDbXref MESH:D014063 semapv:UnspecifiedMatching +DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref OMIM:600880 semapv:UnspecifiedMatching +DOID:11512 Budd-Chiari syndrome oboInOwl:hasDbXref UMLS_CUI:C0019154 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching +DOID:11514 fissured tongue oboInOwl:hasDbXref MESH:D014063 semapv:UnspecifiedMatching DOID:11514 fissured tongue oboInOwl:hasDbXref UMLS_CUI:C0040412 semapv:UnspecifiedMatching -DOID:11516 hypertensive heart disease oboInOwl:hasDbXref UMLS_CUI:C0152105 semapv:UnspecifiedMatching -DOID:11516 hypertensive heart disease oboInOwl:hasDbXref NCI:C157879 semapv:UnspecifiedMatching +DOID:11514 fissured tongue oboInOwl:hasDbXref ICD10CM:K14.5 semapv:UnspecifiedMatching +DOID:11514 fissured tongue oboInOwl:hasDbXref ICD9CM:529.5 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref ICD10CM:I11 semapv:UnspecifiedMatching DOID:11516 hypertensive heart disease oboInOwl:hasDbXref ICD9CM:402 semapv:UnspecifiedMatching -DOID:11518 abnormal pupillary function oboInOwl:hasDbXref ICD10CM:H57.09 semapv:UnspecifiedMatching +DOID:11516 hypertensive heart disease oboInOwl:hasDbXref NCI:C157879 semapv:UnspecifiedMatching +DOID:11516 hypertensive heart disease oboInOwl:hasDbXref UMLS_CUI:C0152105 semapv:UnspecifiedMatching DOID:11518 abnormal pupillary function oboInOwl:hasDbXref ICD9CM:379.49 semapv:UnspecifiedMatching DOID:11518 abnormal pupillary function oboInOwl:hasDbXref UMLS_CUI:C0155376 semapv:UnspecifiedMatching +DOID:11518 abnormal pupillary function oboInOwl:hasDbXref ICD10CM:H57.09 semapv:UnspecifiedMatching DOID:11520 benign hypertensive renal disease oboInOwl:hasDbXref ICD9CM:403.1 semapv:UnspecifiedMatching DOID:11520 benign hypertensive renal disease oboInOwl:hasDbXref UMLS_CUI:C0155596 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref UMLS_CUI:C0023075 semapv:UnspecifiedMatching -DOID:11527 laryngostenosis oboInOwl:hasDbXref NCI:C79608 semapv:UnspecifiedMatching -DOID:11527 laryngostenosis oboInOwl:hasDbXref ICD9CM:478.74 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref ICD10CM:J38.6 semapv:UnspecifiedMatching +DOID:11527 laryngostenosis oboInOwl:hasDbXref ICD9CM:478.74 semapv:UnspecifiedMatching DOID:11527 laryngostenosis oboInOwl:hasDbXref MESH:D007829 semapv:UnspecifiedMatching -DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref ICD10CM:H18.83 semapv:UnspecifiedMatching -DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref ICD9CM:371.42 semapv:UnspecifiedMatching +DOID:11527 laryngostenosis oboInOwl:hasDbXref NCI:C79608 semapv:UnspecifiedMatching DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref UMLS_CUI:C0155119 semapv:UnspecifiedMatching +DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref ICD9CM:371.42 semapv:UnspecifiedMatching +DOID:11541 recurrent corneal erosion oboInOwl:hasDbXref ICD10CM:H18.83 semapv:UnspecifiedMatching DOID:11543 corneal abscess oboInOwl:hasDbXref ICD10CM:H16.31 semapv:UnspecifiedMatching DOID:11543 corneal abscess oboInOwl:hasDbXref ICD9CM:370.55 semapv:UnspecifiedMatching DOID:11543 corneal abscess oboInOwl:hasDbXref NCI:C26969 semapv:UnspecifiedMatching @@ -14548,251 +14574,251 @@ DOID:11543 corneal abscess oboInOwl:hasDbXref UMLS_CUI:C0155091 semapv:Unspecifi DOID:11547 corneal deposit oboInOwl:hasDbXref ICD10CM:H18.00 semapv:UnspecifiedMatching DOID:11547 corneal deposit oboInOwl:hasDbXref ICD9CM:371.10 semapv:UnspecifiedMatching DOID:11547 corneal deposit oboInOwl:hasDbXref UMLS_CUI:C0162281 semapv:UnspecifiedMatching -DOID:11549 Adie syndrome oboInOwl:hasDbXref UMLS_CUI:C0001519 semapv:UnspecifiedMatching -DOID:11549 Adie syndrome skos:exactMatch MESH:D000270 semapv:UnspecifiedMatching -DOID:11549 Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref GARD:5749 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref MESH:D000270 semapv:UnspecifiedMatching DOID:11549 Adie syndrome oboInOwl:hasDbXref NCI:C34357 semapv:UnspecifiedMatching +DOID:11549 Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching +DOID:11549 Adie syndrome oboInOwl:hasDbXref UMLS_CUI:C0001519 semapv:UnspecifiedMatching +DOID:11549 Adie syndrome skos:exactMatch MESH:D000270 semapv:UnspecifiedMatching +DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C0028866 semapv:UnspecifiedMatching +DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref NCI:C27597 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref ICD10CM:H49.0 semapv:UnspecifiedMatching DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref MESH:D015840 semapv:UnspecifiedMatching -DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref NCI:C27597 semapv:UnspecifiedMatching -DOID:11550 oculomotor nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C0028866 semapv:UnspecifiedMatching +DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref ICD10CM:H18.31 semapv:UnspecifiedMatching DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref ICD9CM:371.31 semapv:UnspecifiedMatching DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref UMLS_CUI:C0155115 semapv:UnspecifiedMatching -DOID:11552 Bowman's membrane folds or rupture oboInOwl:hasDbXref ICD10CM:H18.31 semapv:UnspecifiedMatching DOID:11554 Chandler syndrome oboInOwl:hasDbXref MESH:D057129 semapv:UnspecifiedMatching DOID:11554 Chandler syndrome oboInOwl:hasDbXref UMLS_CUI:C0544008 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613268 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613269 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref UMLS_CUI:C0016781 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ORDO:98974 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:615523 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613271 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ORDO:98974 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613270 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613269 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613268 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:610158 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:613267 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ICD10CM:H18.51 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:136800 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref NCI:C84721 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref MESH:D005642 semapv:UnspecifiedMatching +DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref ICD10CM:H18.51 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref GARD:10018 semapv:UnspecifiedMatching DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref EFO:0003946 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref UMLS_CUI:C0016781 semapv:UnspecifiedMatching -DOID:11555 Fuchs' endothelial dystrophy oboInOwl:hasDbXref OMIM:610158 semapv:UnspecifiedMatching -DOID:11557 acute serous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155415 semapv:UnspecifiedMatching -DOID:11557 acute serous otitis media oboInOwl:hasDbXref ICD9CM:381.01 semapv:UnspecifiedMatching DOID:11557 acute serous otitis media oboInOwl:hasDbXref ICD10CM:H65.0 semapv:UnspecifiedMatching +DOID:11557 acute serous otitis media oboInOwl:hasDbXref ICD9CM:381.01 semapv:UnspecifiedMatching +DOID:11557 acute serous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155415 semapv:UnspecifiedMatching DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref ICD9CM:381.04 semapv:UnspecifiedMatching DOID:11558 acute allergic serous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155418 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ICD9CM:712.1 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref NCI:C34955 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0157852 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0033802 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ORDO:1416 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:600668 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:118600 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref NCI:C34955 semapv:UnspecifiedMatching +DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ICD9CM:712.1 semapv:UnspecifiedMatching DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:118610 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref OMIM:600668 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref ORDO:1416 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0033802 semapv:UnspecifiedMatching -DOID:1156 chondrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0157852 semapv:UnspecifiedMatching -DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref NCI:C3514 semapv:UnspecifiedMatching -DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref MESH:D058437 semapv:UnspecifiedMatching -DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref UMLS_CUI:C0152132 semapv:UnspecifiedMatching DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref ICD10CM:H35.03 semapv:UnspecifiedMatching DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref ICD9CM:362.11 semapv:UnspecifiedMatching +DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref MESH:D058437 semapv:UnspecifiedMatching +DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref NCI:C3514 semapv:UnspecifiedMatching +DOID:11561 hypertensive retinopathy oboInOwl:hasDbXref UMLS_CUI:C0152132 semapv:UnspecifiedMatching +DOID:11563 retinal vasculitis oboInOwl:hasDbXref UMLS_CUI:C0152026 semapv:UnspecifiedMatching DOID:11563 retinal vasculitis oboInOwl:hasDbXref ICD10CM:H35.06 semapv:UnspecifiedMatching DOID:11563 retinal vasculitis oboInOwl:hasDbXref ICD9CM:362.18 semapv:UnspecifiedMatching DOID:11563 retinal vasculitis oboInOwl:hasDbXref MESH:D031300 semapv:UnspecifiedMatching -DOID:11563 retinal vasculitis oboInOwl:hasDbXref UMLS_CUI:C0152026 semapv:UnspecifiedMatching -DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref MESH:D009449 semapv:UnspecifiedMatching DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref UMLS_CUI:C0027821 semapv:UnspecifiedMatching DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref ICD9CM:306.2 semapv:UnspecifiedMatching +DOID:11569 neurocirculatory asthenia oboInOwl:hasDbXref MESH:D009449 semapv:UnspecifiedMatching DOID:11572 Listeria meningitis oboInOwl:hasDbXref MESH:D008584 semapv:UnspecifiedMatching DOID:11572 Listeria meningitis oboInOwl:hasDbXref UMLS_CUI:C0025293 semapv:UnspecifiedMatching -DOID:11573 listeriosis oboInOwl:hasDbXref UMLS_CUI:C0023860 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref ICD10CM:A32 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref ICD9CM:027.0 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref MESH:D008088 semapv:UnspecifiedMatching DOID:11573 listeriosis oboInOwl:hasDbXref NCI:C82994 semapv:UnspecifiedMatching +DOID:11573 listeriosis oboInOwl:hasDbXref UMLS_CUI:C0023860 semapv:UnspecifiedMatching DOID:11574 streptococcal meningitis oboInOwl:hasDbXref UMLS_CUI:C0154639 semapv:UnspecifiedMatching DOID:11574 streptococcal meningitis oboInOwl:hasDbXref ICD10CM:G00.2 semapv:UnspecifiedMatching DOID:11574 streptococcal meningitis oboInOwl:hasDbXref ICD9CM:320.2 semapv:UnspecifiedMatching -DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref GARD:10987 semapv:UnspecifiedMatching +DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref UMLS_CUI:C0392548 semapv:UnspecifiedMatching +DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref NCI:C35436 semapv:UnspecifiedMatching +DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref MESH:D000077684 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref ICD10CM:G83.4 semapv:UnspecifiedMatching +DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref GARD:10987 semapv:UnspecifiedMatching DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref ICD9CM:344.6 semapv:UnspecifiedMatching -DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref MESH:D000077684 semapv:UnspecifiedMatching -DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref NCI:C35436 semapv:UnspecifiedMatching -DOID:11577 Cauda equina syndrome oboInOwl:hasDbXref UMLS_CUI:C0392548 semapv:UnspecifiedMatching +DOID:11581 phlyctenulosis oboInOwl:hasDbXref UMLS_CUI:C0155080 semapv:UnspecifiedMatching DOID:11581 phlyctenulosis oboInOwl:hasDbXref ICD10CM:H16.25 semapv:UnspecifiedMatching DOID:11581 phlyctenulosis oboInOwl:hasDbXref ICD9CM:370.31 semapv:UnspecifiedMatching -DOID:11581 phlyctenulosis oboInOwl:hasDbXref UMLS_CUI:C0155080 semapv:UnspecifiedMatching -DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref UMLS_CUI:C0013364 semapv:UnspecifiedMatching -DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref NCI:C84706 semapv:UnspecifiedMatching -DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref MESH:D004402 semapv:UnspecifiedMatching +DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref ICD10CM:G90.1 semapv:UnspecifiedMatching -DOID:1159 functional gastric disease oboInOwl:hasDbXref ICD9CM:536.8 semapv:UnspecifiedMatching +DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref MESH:D004402 semapv:UnspecifiedMatching +DOID:11589 Riley-Day syndrome oboInOwl:hasDbXref UMLS_CUI:C0013364 semapv:UnspecifiedMatching DOID:1159 functional gastric disease oboInOwl:hasDbXref UMLS_CUI:C0013396 semapv:UnspecifiedMatching -DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD10CM:C67.2 semapv:UnspecifiedMatching -DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD9CM:188.2 semapv:UnspecifiedMatching +DOID:1159 functional gastric disease oboInOwl:hasDbXref ICD9CM:536.8 semapv:UnspecifiedMatching DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref NCI:C12333 semapv:UnspecifiedMatching DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref UMLS_CUI:C0496828 semapv:UnspecifiedMatching -DOID:11594 ring staphyloma oboInOwl:hasDbXref ICD10CM:H15.85 semapv:UnspecifiedMatching -DOID:11594 ring staphyloma oboInOwl:hasDbXref ICD9CM:379.15 semapv:UnspecifiedMatching +DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD10CM:C67.2 semapv:UnspecifiedMatching +DOID:11593 bladder lateral wall cancer oboInOwl:hasDbXref ICD9CM:188.2 semapv:UnspecifiedMatching DOID:11594 ring staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155363 semapv:UnspecifiedMatching +DOID:11594 ring staphyloma oboInOwl:hasDbXref ICD9CM:379.15 semapv:UnspecifiedMatching +DOID:11594 ring staphyloma oboInOwl:hasDbXref ICD10CM:H15.85 semapv:UnspecifiedMatching DOID:11595 scleral staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155359 semapv:UnspecifiedMatching +DOID:11599 Frey syndrome oboInOwl:hasDbXref GARD:6467 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref MESH:D013547 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref OMIM:144100 semapv:UnspecifiedMatching -DOID:11599 Frey syndrome oboInOwl:hasDbXref GARD:6467 semapv:UnspecifiedMatching DOID:11599 Frey syndrome oboInOwl:hasDbXref UMLS_CUI:C0038994 semapv:UnspecifiedMatching -DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS_CUI:C0349574 semapv:UnspecifiedMatching -DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346609 semapv:UnspecifiedMatching -DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4651 semapv:UnspecifiedMatching -DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4567 semapv:UnspecifiedMatching DOID:116 pericardium cancer oboInOwl:hasDbXref ICD10CM:C38.0 semapv:UnspecifiedMatching -DOID:11603 infant gynecomastia oboInOwl:hasDbXref ICD10CM:P83.4 semapv:UnspecifiedMatching -DOID:11603 infant gynecomastia oboInOwl:hasDbXref ICD9CM:778.7 semapv:UnspecifiedMatching +DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4567 semapv:UnspecifiedMatching +DOID:116 pericardium cancer oboInOwl:hasDbXref NCI:C4651 semapv:UnspecifiedMatching +DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346609 semapv:UnspecifiedMatching +DOID:116 pericardium cancer oboInOwl:hasDbXref UMLS_CUI:C0349574 semapv:UnspecifiedMatching +DOID:11603 infant gynecomastia oboInOwl:hasDbXref UMLS_CUI:C1449721 semapv:UnspecifiedMatching DOID:11603 infant gynecomastia oboInOwl:hasDbXref MESH:D006177 semapv:UnspecifiedMatching DOID:11603 infant gynecomastia oboInOwl:hasDbXref NCI:C117312 semapv:UnspecifiedMatching -DOID:11603 infant gynecomastia oboInOwl:hasDbXref UMLS_CUI:C1449721 semapv:UnspecifiedMatching +DOID:11603 infant gynecomastia oboInOwl:hasDbXref ICD10CM:P83.4 semapv:UnspecifiedMatching +DOID:11603 infant gynecomastia oboInOwl:hasDbXref ICD9CM:778.7 semapv:UnspecifiedMatching DOID:11608 fungal meningitis oboInOwl:hasDbXref MESH:D016921 semapv:UnspecifiedMatching DOID:11608 fungal meningitis oboInOwl:hasDbXref UMLS_CUI:C0085438 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref OMIM:184700 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref NCI:C26862 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref MESH:D011085 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref UMLS_CUI:C0032460 semapv:UnspecifiedMatching -DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD10CM:E28.2 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref EFO:0000660 semapv:UnspecifiedMatching +DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD10CM:E28.2 semapv:UnspecifiedMatching DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref ICD9CM:256.4 semapv:UnspecifiedMatching +DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref MESH:D011085 semapv:UnspecifiedMatching +DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref NCI:C26862 semapv:UnspecifiedMatching +DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref OMIM:184700 semapv:UnspecifiedMatching +DOID:11612 polycystic ovary syndrome oboInOwl:hasDbXref UMLS_CUI:C0032460 semapv:UnspecifiedMatching DOID:11613 hyperandrogenism oboInOwl:hasDbXref MESH:D017588 semapv:UnspecifiedMatching DOID:11613 hyperandrogenism oboInOwl:hasDbXref UMLS_CUI:C0206081 semapv:UnspecifiedMatching -DOID:11615 penile cancer oboInOwl:hasDbXref UMLS_CUI:C0153601 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref UMLS_CUI:C0153600 semapv:UnspecifiedMatching +DOID:11615 penile cancer oboInOwl:hasDbXref UMLS_CUI:C0153601 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref NCI:C7547 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref MESH:D010412 semapv:UnspecifiedMatching -DOID:11615 penile cancer oboInOwl:hasDbXref ICD9CM:187.4 semapv:UnspecifiedMatching +DOID:11615 penile cancer oboInOwl:hasDbXref ICD9CM:187.3 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD10CM:C60.2 semapv:UnspecifiedMatching DOID:11615 penile cancer oboInOwl:hasDbXref ICD10CM:C60 semapv:UnspecifiedMatching -DOID:11615 penile cancer oboInOwl:hasDbXref ICD9CM:187.3 semapv:UnspecifiedMatching -DOID:11623 dental pulp necrosis oboInOwl:hasDbXref UMLS_CUI:C0011407 semapv:UnspecifiedMatching +DOID:11615 penile cancer oboInOwl:hasDbXref ICD9CM:187.4 semapv:UnspecifiedMatching DOID:11623 dental pulp necrosis oboInOwl:hasDbXref ICD10CM:K04.1 semapv:UnspecifiedMatching DOID:11623 dental pulp necrosis oboInOwl:hasDbXref ICD9CM:522.1 semapv:UnspecifiedMatching DOID:11623 dental pulp necrosis oboInOwl:hasDbXref MESH:D003790 semapv:UnspecifiedMatching -DOID:11624 penile benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0030849 semapv:UnspecifiedMatching -DOID:11624 penile benign neoplasm oboInOwl:hasDbXref NCI:C3317 semapv:UnspecifiedMatching +DOID:11623 dental pulp necrosis oboInOwl:hasDbXref UMLS_CUI:C0011407 semapv:UnspecifiedMatching DOID:11624 penile benign neoplasm oboInOwl:hasDbXref MESH:D010412 semapv:UnspecifiedMatching +DOID:11624 penile benign neoplasm oboInOwl:hasDbXref NCI:C3317 semapv:UnspecifiedMatching +DOID:11624 penile benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0030849 semapv:UnspecifiedMatching +DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref UMLS_CUI:C1456255 semapv:UnspecifiedMatching DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref ICD10CM:N81.84 semapv:UnspecifiedMatching DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref ICD9CM:618.83 semapv:UnspecifiedMatching -DOID:11629 pelvic muscle wasting oboInOwl:hasDbXref UMLS_CUI:C1456255 semapv:UnspecifiedMatching -DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref MESH:D018382 semapv:UnspecifiedMatching +DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref UMLS_CUI:C2940786 semapv:UnspecifiedMatching +DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref NCI:C85191 semapv:UnspecifiedMatching +DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref MESH:D018382 semapv:UnspecifiedMatching DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching -DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching -DOID:11633 thyroid hormone resistance syndrome oboInOwl:hasDbXref UMLS_CUI:C2940786 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref ICD10CM:E03.9 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref MESH:D009230 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref NCI:C34834 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref OMIM:255900 semapv:UnspecifiedMatching DOID:11634 myxedema oboInOwl:hasDbXref UMLS_CUI:C0027145 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref UMLS_CUI:C0152196 semapv:UnspecifiedMatching -DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD9CM:367.53 semapv:UnspecifiedMatching DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD10CM:H52.53 semapv:UnspecifiedMatching -DOID:11638 presbyopia oboInOwl:hasDbXref ICD10CM:H52.4 semapv:UnspecifiedMatching -DOID:11638 presbyopia oboInOwl:hasDbXref ICD9CM:367.4 semapv:UnspecifiedMatching +DOID:11637 accommodative spasm oboInOwl:hasDbXref ICD9CM:367.53 semapv:UnspecifiedMatching DOID:11638 presbyopia oboInOwl:hasDbXref MESH:D011305 semapv:UnspecifiedMatching DOID:11638 presbyopia oboInOwl:hasDbXref UMLS_CUI:C0033075 semapv:UnspecifiedMatching -DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10CM:P27.1 semapv:UnspecifiedMatching -DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref MESH:D001997 semapv:UnspecifiedMatching +DOID:11638 presbyopia oboInOwl:hasDbXref ICD10CM:H52.4 semapv:UnspecifiedMatching +DOID:11638 presbyopia oboInOwl:hasDbXref ICD9CM:367.4 semapv:UnspecifiedMatching DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref NCI:C90599 semapv:UnspecifiedMatching +DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref MESH:D001997 semapv:UnspecifiedMatching +DOID:11650 bronchopulmonary dysplasia oboInOwl:hasDbXref ICD10CM:P27.1 semapv:UnspecifiedMatching DOID:11653 conjunctival deposit oboInOwl:hasDbXref ICD10CM:H11.11 semapv:UnspecifiedMatching DOID:11653 conjunctival deposit oboInOwl:hasDbXref ICD9CM:372.56 semapv:UnspecifiedMatching DOID:11653 conjunctival deposit oboInOwl:hasDbXref UMLS_CUI:C0162280 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0157721 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0030804 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref OMIM:164185 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref NCI:C34907 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref MESH:D010390 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.61 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.6 semapv:UnspecifiedMatching -DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD10CM:L12.1 semapv:UnspecifiedMatching DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref GARD:5913 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref GARD:7304 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD10CM:M12.3 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD10CM:L12.1 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.6 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref ICD9CM:694.61 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref MESH:D010390 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref NCI:C34907 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref OMIM:164185 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0030804 semapv:UnspecifiedMatching +DOID:11656 cicatricial pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0157721 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS_CUI:C0158178 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS_CUI:C0085574 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref MESH:C538103 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD9CM:719.3 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD10CM:M12.3 semapv:UnspecifiedMatching +DOID:1166 palindromic rheumatism oboInOwl:hasDbXref GARD:7304 semapv:UnspecifiedMatching DOID:1166 palindromic rheumatism oboInOwl:hasDbXref ICD9CM:719.31 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref MESH:C538103 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS_CUI:C0085574 semapv:UnspecifiedMatching -DOID:1166 palindromic rheumatism oboInOwl:hasDbXref UMLS_CUI:C0158178 semapv:UnspecifiedMatching -DOID:11661 blue color blindness oboInOwl:hasDbXref UMLS_CUI:C0155017 semapv:UnspecifiedMatching -DOID:11661 blue color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching -DOID:11661 blue color blindness oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref ICD10CM:H53.55 semapv:UnspecifiedMatching DOID:11661 blue color blindness oboInOwl:hasDbXref ICD9CM:368.53 semapv:UnspecifiedMatching +DOID:11661 blue color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching +DOID:11661 blue color blindness oboInOwl:hasDbXref OMIM:190900 semapv:UnspecifiedMatching +DOID:11661 blue color blindness oboInOwl:hasDbXref UMLS_CUI:C0155017 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref GARD:7179 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref ICD10CM:I12 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref ICD9CM:587 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref MESH:D009400 semapv:UnspecifiedMatching DOID:11664 nephrosclerosis oboInOwl:hasDbXref UMLS_CUI:C0027719 semapv:UnspecifiedMatching -DOID:11665 Patau syndrome oboInOwl:hasDbXref ICD10CM:Q91.7 semapv:UnspecifiedMatching +DOID:11665 Patau syndrome oboInOwl:hasDbXref UMLS_CUI:C0152095 semapv:UnspecifiedMatching +DOID:11665 Patau syndrome oboInOwl:hasDbXref NCI:C101223 semapv:UnspecifiedMatching DOID:11665 Patau syndrome oboInOwl:hasDbXref ICD9CM:758.1 semapv:UnspecifiedMatching +DOID:11665 Patau syndrome oboInOwl:hasDbXref ICD10CM:Q91.7 semapv:UnspecifiedMatching DOID:11665 Patau syndrome oboInOwl:hasDbXref MESH:D000073839 semapv:UnspecifiedMatching -DOID:11665 Patau syndrome oboInOwl:hasDbXref NCI:C101223 semapv:UnspecifiedMatching -DOID:11665 Patau syndrome oboInOwl:hasDbXref UMLS_CUI:C0152095 semapv:UnspecifiedMatching -DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155212 semapv:UnspecifiedMatching DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref ICD10CM:H02.73 semapv:UnspecifiedMatching DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref ICD9CM:374.53 semapv:UnspecifiedMatching +DOID:11668 hypopigmentation of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155212 semapv:UnspecifiedMatching +DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref ICD10CM:H02.86 semapv:UnspecifiedMatching DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref ICD9CM:374.54 semapv:UnspecifiedMatching DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155213 semapv:UnspecifiedMatching -DOID:11669 hypertrichosis of eyelid oboInOwl:hasDbXref ICD10CM:H02.86 semapv:UnspecifiedMatching DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref ICD10CM:H02.72 semapv:UnspecifiedMatching DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref ICD9CM:374.55 semapv:UnspecifiedMatching DOID:11671 hypotrichosis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155214 semapv:UnspecifiedMatching -DOID:11678 onchocerciasis oboInOwl:hasDbXref GARD:7252 semapv:UnspecifiedMatching -DOID:11678 onchocerciasis oboInOwl:hasDbXref ICD10CM:B73 semapv:UnspecifiedMatching -DOID:11678 onchocerciasis oboInOwl:hasDbXref ICD9CM:125.3 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref MESH:D009855 semapv:UnspecifiedMatching -DOID:11678 onchocerciasis oboInOwl:hasDbXref NCI:C34861 semapv:UnspecifiedMatching DOID:11678 onchocerciasis oboInOwl:hasDbXref UMLS_CUI:C0029001 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020476 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020473 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref NCI:C34707 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref NCI:C34709 semapv:UnspecifiedMatching -DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref MESH:D006949 semapv:UnspecifiedMatching +DOID:11678 onchocerciasis oboInOwl:hasDbXref NCI:C34861 semapv:UnspecifiedMatching +DOID:11678 onchocerciasis oboInOwl:hasDbXref ICD9CM:125.3 semapv:UnspecifiedMatching +DOID:11678 onchocerciasis oboInOwl:hasDbXref ICD10CM:B73 semapv:UnspecifiedMatching +DOID:11678 onchocerciasis oboInOwl:hasDbXref GARD:7252 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref ICD10CM:E78.5 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref MESH:D006949 semapv:UnspecifiedMatching DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref MESH:D006951 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref NCI:C34707 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref NCI:C34709 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020473 semapv:UnspecifiedMatching +DOID:1168 familial hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020476 semapv:UnspecifiedMatching DOID:11684 melanoacanthoma oboInOwl:hasDbXref NCI:C27548 semapv:UnspecifiedMatching DOID:11684 melanoacanthoma oboInOwl:hasDbXref UMLS_CUI:C1321683 semapv:UnspecifiedMatching -DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82.0 semapv:UnspecifiedMatching DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref ICD9CM:702.11 semapv:UnspecifiedMatching DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C0376117 semapv:UnspecifiedMatching +DOID:11685 inflamed seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82.0 semapv:UnspecifiedMatching +DOID:11693 acute apical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0155934 semapv:UnspecifiedMatching DOID:11693 acute apical periodontitis oboInOwl:hasDbXref ICD10CM:K04.4 semapv:UnspecifiedMatching DOID:11693 acute apical periodontitis oboInOwl:hasDbXref ICD9CM:522.4 semapv:UnspecifiedMatching -DOID:11693 acute apical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0155934 semapv:UnspecifiedMatching -DOID:11695 portal vein thrombosis oboInOwl:hasDbXref UMLS_CUI:C0155773 semapv:UnspecifiedMatching DOID:11695 portal vein thrombosis oboInOwl:hasDbXref ICD10CM:I81 semapv:UnspecifiedMatching DOID:11695 portal vein thrombosis oboInOwl:hasDbXref ICD9CM:452 semapv:UnspecifiedMatching DOID:11695 portal vein thrombosis oboInOwl:hasDbXref NCI:C78565 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref UMLS_CUI:C0018809 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref NCI:C3548 semapv:UnspecifiedMatching +DOID:11695 portal vein thrombosis oboInOwl:hasDbXref UMLS_CUI:C0155773 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref UMLS_CUI:C0153500 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref NCI:C3081 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref MESH:D006338 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref ICD9CM:164.1 semapv:UnspecifiedMatching -DOID:117 heart cancer oboInOwl:hasDbXref ICD10CM:C38.0 semapv:UnspecifiedMatching DOID:117 heart cancer oboInOwl:hasDbXref GARD:2619 semapv:UnspecifiedMatching -DOID:11701 selective IgA deficiency disease oboInOwl:hasDbXref MESH:D017098 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref ICD10CM:C38.0 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref ICD9CM:164.1 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref MESH:D006338 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref NCI:C3081 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref NCI:C3548 semapv:UnspecifiedMatching +DOID:117 heart cancer oboInOwl:hasDbXref UMLS_CUI:C0018809 semapv:UnspecifiedMatching DOID:11701 selective IgA deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0162538 semapv:UnspecifiedMatching +DOID:11701 selective IgA deficiency disease oboInOwl:hasDbXref MESH:D017098 semapv:UnspecifiedMatching DOID:11702 dysgammaglobulinemia oboInOwl:hasDbXref MESH:D004406 semapv:UnspecifiedMatching DOID:11702 dysgammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0013374 semapv:UnspecifiedMatching DOID:11702 dysgammaglobulinemia skos:exactMatch MESH:D004406 semapv:UnspecifiedMatching -DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref UMLS_CUI:C0020481 semapv:UnspecifiedMatching -DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref MESH:D006954 semapv:UnspecifiedMatching DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref NCI:C35645 semapv:UnspecifiedMatching +DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref OMIM:144650 semapv:UnspecifiedMatching +DOID:1171 hyperlipoproteinemia type V oboInOwl:hasDbXref UMLS_CUI:C0020481 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref MESH:D003923 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref NCI:C34537 semapv:UnspecifiedMatching DOID:11712 lipoatrophic diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011859 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref UMLS_CUI:C0011875 semapv:UnspecifiedMatching +DOID:11713 diabetic angiopathy oboInOwl:hasDbXref NCI:C35610 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref UMLS_CUI:C0011871 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref ICD9CM:250.7 semapv:UnspecifiedMatching DOID:11713 diabetic angiopathy oboInOwl:hasDbXref MESH:D003925 semapv:UnspecifiedMatching -DOID:11713 diabetic angiopathy oboInOwl:hasDbXref NCI:C35610 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref EFO:0004593 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref ICD10CM:O24.4 semapv:UnspecifiedMatching DOID:11714 gestational diabetes oboInOwl:hasDbXref MESH:D016640 semapv:UnspecifiedMatching @@ -14804,8 +14830,8 @@ DOID:11716 prediabetes syndrome oboInOwl:hasDbXref NCI:C122685 semapv:Unspecifie DOID:11716 prediabetes syndrome oboInOwl:hasDbXref UMLS_CUI:C0362046 semapv:UnspecifiedMatching DOID:11717 neonatal diabetes oboInOwl:hasDbXref UMLS_CUI:C0158981 semapv:UnspecifiedMatching DOID:11717 neonatal diabetes oboInOwl:hasDbXref NCI:C99248 semapv:UnspecifiedMatching -DOID:11717 neonatal diabetes oboInOwl:hasDbXref ICD9CM:775.1 semapv:UnspecifiedMatching DOID:11717 neonatal diabetes oboInOwl:hasDbXref ICD10CM:P70.2 semapv:UnspecifiedMatching +DOID:11717 neonatal diabetes oboInOwl:hasDbXref ICD9CM:775.1 semapv:UnspecifiedMatching DOID:11718 antidepressant type abuse oboInOwl:hasDbXref ICD9CM:305.8 semapv:UnspecifiedMatching DOID:11718 antidepressant type abuse oboInOwl:hasDbXref UMLS_CUI:C0154540 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.09 semapv:UnspecifiedMatching @@ -14813,32 +14839,32 @@ DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref MESH:D039141 se DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref NCI:C84942 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref OMIM:164300 semapv:UnspecifiedMatching DOID:11719 oculopharyngeal muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0270952 semapv:UnspecifiedMatching -DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:145750 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:144600 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref NCI:C34711 semapv:UnspecifiedMatching -DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref UMLS_CUI:C0020480 semapv:UnspecifiedMatching +DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref OMIM:145750 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref ICD9CM:272.1 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref ICD10CM:E78.1 semapv:UnspecifiedMatching DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref MESH:D006953 semapv:UnspecifiedMatching +DOID:1172 hyperlipoproteinemia type IV oboInOwl:hasDbXref UMLS_CUI:C0020480 semapv:UnspecifiedMatching +DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:59135 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref UMLS_CUI:C0751336 semapv:UnspecifiedMatching -DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:5448 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:399096 semapv:UnspecifiedMatching -DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:59135 semapv:UnspecifiedMatching +DOID:11720 distal myopathy oboInOwl:hasDbXref ORDO:5448 semapv:UnspecifiedMatching +DOID:11720 distal myopathy oboInOwl:hasDbXref NCI:C84675 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref MESH:D049310 semapv:UnspecifiedMatching DOID:11720 distal myopathy oboInOwl:hasDbXref ICD10CM:G71.09 semapv:UnspecifiedMatching -DOID:11720 distal myopathy oboInOwl:hasDbXref NCI:C84675 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref MESH:D006014 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref NCI:C118437 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref OMIM:232800 semapv:UnspecifiedMatching DOID:11721 glycogen storage disease VII oboInOwl:hasDbXref UMLS_CUI:C0017926 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref OMIM:160900 semapv:UnspecifiedMatching -DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref UMLS_CUI:C0027126 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref NCI:C84914 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref MESH:D009223 semapv:UnspecifiedMatching -DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD9CM:359.21 semapv:UnspecifiedMatching +DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref UMLS_CUI:C0027126 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD10CM:G71.11 semapv:UnspecifiedMatching DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref GARD:8310 semapv:UnspecifiedMatching +DOID:11722 myotonic dystrophy type 1 oboInOwl:hasDbXref ICD9CM:359.21 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref GARD:6291 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref MESH:D020388 semapv:UnspecifiedMatching DOID:11723 Duchenne muscular dystrophy oboInOwl:hasDbXref NCI:C75482 semapv:UnspecifiedMatching @@ -14853,9 +14879,9 @@ DOID:11724 limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref ORDO:199 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref UMLS_CUI:C0270972 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref OMIMPS:122470 semapv:UnspecifiedMatching -DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref GARD:10109 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref MESH:D003635 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching +DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref GARD:10109 semapv:UnspecifiedMatching DOID:11725 Cornelia de Lange syndrome oboInOwl:hasDbXref NCI:C75016 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref GARD:6329 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref MESH:D020389 semapv:UnspecifiedMatching @@ -14863,9 +14889,9 @@ DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref NCI:C84685 semap DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIMPS:310300 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ORDO:261 semapv:UnspecifiedMatching DOID:11726 Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0410189 semapv:UnspecifiedMatching -DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref NCI:C84704 semapv:UnspecifiedMatching -DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref MESH:D020391 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0238288 semapv:UnspecifiedMatching +DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref MESH:D020391 semapv:UnspecifiedMatching +DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref NCI:C84704 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref GARD:9941 semapv:UnspecifiedMatching DOID:11727 facioscapulohumeral muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.02 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref GARD:12073 semapv:UnspecifiedMatching @@ -14874,24 +14900,24 @@ DOID:11729 Lyme disease oboInOwl:hasDbXref ICD9CM:088.81 semapv:UnspecifiedMatch DOID:11729 Lyme disease oboInOwl:hasDbXref MESH:D008193 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref MESH:D020852 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref NCI:C45161 semapv:UnspecifiedMatching -DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS_CUI:C0752235 semapv:UnspecifiedMatching DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS_CUI:C0024198 semapv:UnspecifiedMatching -DOID:11736 odontoclasia oboInOwl:hasDbXref ICD9CM:521.05 semapv:UnspecifiedMatching +DOID:11729 Lyme disease oboInOwl:hasDbXref UMLS_CUI:C0752235 semapv:UnspecifiedMatching DOID:11736 odontoclasia oboInOwl:hasDbXref UMLS_CUI:C0341004 semapv:UnspecifiedMatching -DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.3 semapv:UnspecifiedMatching +DOID:11736 odontoclasia oboInOwl:hasDbXref ICD9CM:521.05 semapv:UnspecifiedMatching DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref ICD9CM:183.4 semapv:UnspecifiedMatching DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153581 semapv:UnspecifiedMatching +DOID:11746 parametrium malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.3 semapv:UnspecifiedMatching +DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD9CM:183.9 semapv:UnspecifiedMatching DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS_CUI:C0153577 semapv:UnspecifiedMatching -DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS_CUI:C0153584 semapv:UnspecifiedMatching -DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD9CM:183 semapv:UnspecifiedMatching DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD10CM:C57.4 semapv:UnspecifiedMatching -DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD9CM:183.9 semapv:UnspecifiedMatching -DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.2 semapv:UnspecifiedMatching +DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref ICD9CM:183 semapv:UnspecifiedMatching +DOID:11747 uterine adnexa cancer oboInOwl:hasDbXref UMLS_CUI:C0153584 semapv:UnspecifiedMatching DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref ICD9CM:183.5 semapv:UnspecifiedMatching +DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref ICD10CM:C57.2 semapv:UnspecifiedMatching DOID:11748 round ligament malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346867 semapv:UnspecifiedMatching -DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref ICD10CM:A37.1 semapv:UnspecifiedMatching -DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref ICD9CM:033.1 semapv:UnspecifiedMatching DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref UMLS_CUI:C0275742 semapv:UnspecifiedMatching +DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref ICD9CM:033.1 semapv:UnspecifiedMatching +DOID:11750 Bordetella parapertussis whooping cough oboInOwl:hasDbXref ICD10CM:A37.1 semapv:UnspecifiedMatching DOID:11752 acute endophthalmitis oboInOwl:hasDbXref ICD9CM:360.01 semapv:UnspecifiedMatching DOID:11752 acute endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0154773 semapv:UnspecifiedMatching DOID:11754 siderosis of eye oboInOwl:hasDbXref ICD10CM:H44.32 semapv:UnspecifiedMatching @@ -14899,119 +14925,119 @@ DOID:11754 siderosis of eye oboInOwl:hasDbXref ICD9CM:360.23 semapv:UnspecifiedM DOID:11754 siderosis of eye oboInOwl:hasDbXref UMLS_CUI:C0271001 semapv:UnspecifiedMatching DOID:11755 choledocholithiasis oboInOwl:hasDbXref MESH:D042883 semapv:UnspecifiedMatching DOID:11755 choledocholithiasis oboInOwl:hasDbXref UMLS_CUI:C0701818 semapv:UnspecifiedMatching -DOID:11758 iron deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0029810 semapv:UnspecifiedMatching DOID:11758 iron deficiency anemia oboInOwl:hasDbXref ICD9CM:280.8 semapv:UnspecifiedMatching +DOID:11758 iron deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0029810 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref ICD10CM:D50 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref MESH:D000747 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref NCI:C34380 semapv:UnspecifiedMatching DOID:11759 hypochromic anemia oboInOwl:hasDbXref UMLS_CUI:C0002884 semapv:UnspecifiedMatching -DOID:1176 bronchial disease oboInOwl:hasDbXref MESH:D001982 semapv:UnspecifiedMatching DOID:1176 bronchial disease oboInOwl:hasDbXref UMLS_CUI:C0006261 semapv:UnspecifiedMatching +DOID:1176 bronchial disease oboInOwl:hasDbXref MESH:D001982 semapv:UnspecifiedMatching DOID:11760 Kohler's disease oboInOwl:hasDbXref GARD:6842 semapv:UnspecifiedMatching DOID:11760 Kohler's disease oboInOwl:hasDbXref ICD9CM:732.5 semapv:UnspecifiedMatching DOID:11760 Kohler's disease oboInOwl:hasDbXref UMLS_CUI:C0158444 semapv:UnspecifiedMatching DOID:11766 blind hypotensive eye oboInOwl:hasDbXref ICD9CM:360.41 semapv:UnspecifiedMatching DOID:11766 blind hypotensive eye oboInOwl:hasDbXref UMLS_CUI:C0154788 semapv:UnspecifiedMatching -DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref UMLS_CUI:C0271384 semapv:UnspecifiedMatching -DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref ICD10CM:H55.03 semapv:UnspecifiedMatching DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref ICD9CM:379.53 semapv:UnspecifiedMatching +DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching +DOID:11771 spontaneous ocular nystagmus oboInOwl:hasDbXref UMLS_CUI:C0271384 semapv:UnspecifiedMatching DOID:11772 leukocoria oboInOwl:hasDbXref ICD10CM:H44.53 semapv:UnspecifiedMatching DOID:11772 leukocoria oboInOwl:hasDbXref ICD9CM:360.44 semapv:UnspecifiedMatching DOID:11772 leukocoria oboInOwl:hasDbXref UMLS_CUI:C0152458 semapv:UnspecifiedMatching DOID:11776 absolute glaucoma oboInOwl:hasDbXref ICD9CM:360.42 semapv:UnspecifiedMatching DOID:11776 absolute glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154789 semapv:UnspecifiedMatching -DOID:11781 regular astigmatism oboInOwl:hasDbXref ICD10CM:H52.22 semapv:UnspecifiedMatching -DOID:11781 regular astigmatism oboInOwl:hasDbXref ICD9CM:367.21 semapv:UnspecifiedMatching DOID:11781 regular astigmatism oboInOwl:hasDbXref UMLS_CUI:C0152193 semapv:UnspecifiedMatching -DOID:11782 astigmatism oboInOwl:hasDbXref OMIM:603047 semapv:UnspecifiedMatching -DOID:11782 astigmatism oboInOwl:hasDbXref MESH:D001251 semapv:UnspecifiedMatching -DOID:11782 astigmatism oboInOwl:hasDbXref UMLS_CUI:C0004106 semapv:UnspecifiedMatching +DOID:11781 regular astigmatism oboInOwl:hasDbXref ICD9CM:367.21 semapv:UnspecifiedMatching +DOID:11781 regular astigmatism oboInOwl:hasDbXref ICD10CM:H52.22 semapv:UnspecifiedMatching +DOID:11782 astigmatism oboInOwl:hasDbXref EFO:0004222 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref ICD10CM:H52.2 semapv:UnspecifiedMatching DOID:11782 astigmatism oboInOwl:hasDbXref ICD9CM:367.2 semapv:UnspecifiedMatching -DOID:11782 astigmatism oboInOwl:hasDbXref EFO:0004222 semapv:UnspecifiedMatching +DOID:11782 astigmatism oboInOwl:hasDbXref MESH:D001251 semapv:UnspecifiedMatching +DOID:11782 astigmatism oboInOwl:hasDbXref OMIM:603047 semapv:UnspecifiedMatching +DOID:11782 astigmatism oboInOwl:hasDbXref UMLS_CUI:C0004106 semapv:UnspecifiedMatching DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref ICD9CM:385.24 semapv:UnspecifiedMatching DOID:11783 necrosis of ear ossicle oboInOwl:hasDbXref UMLS_CUI:C0155488 semapv:UnspecifiedMatching DOID:11786 splenic sequestration oboInOwl:hasDbXref ICD9CM:289.52 semapv:UnspecifiedMatching DOID:11786 splenic sequestration oboInOwl:hasDbXref UMLS_CUI:C1260402 semapv:UnspecifiedMatching DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref ICD10CM:D73.2 semapv:UnspecifiedMatching -DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref UMLS_CUI:C0398661 semapv:UnspecifiedMatching DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref ICD9CM:289.51 semapv:UnspecifiedMatching -DOID:11793 phthisical cornea oboInOwl:hasDbXref ICD9CM:371.05 semapv:UnspecifiedMatching +DOID:11787 chronic congestive splenomegaly oboInOwl:hasDbXref UMLS_CUI:C0398661 semapv:UnspecifiedMatching DOID:11793 phthisical cornea oboInOwl:hasDbXref UMLS_CUI:C0155102 semapv:UnspecifiedMatching -DOID:11797 chronic laryngitis oboInOwl:hasDbXref UMLS_CUI:C0155836 semapv:UnspecifiedMatching +DOID:11793 phthisical cornea oboInOwl:hasDbXref ICD9CM:371.05 semapv:UnspecifiedMatching DOID:11797 chronic laryngitis oboInOwl:hasDbXref ICD10CM:J37.0 semapv:UnspecifiedMatching DOID:11797 chronic laryngitis oboInOwl:hasDbXref ICD9CM:476.0 semapv:UnspecifiedMatching DOID:11797 chronic laryngitis oboInOwl:hasDbXref NCI:C26975 semapv:UnspecifiedMatching -DOID:118 pericardial effusion oboInOwl:hasDbXref UMLS_CUI:C0031039 semapv:UnspecifiedMatching +DOID:11797 chronic laryngitis oboInOwl:hasDbXref UMLS_CUI:C0155836 semapv:UnspecifiedMatching DOID:118 pericardial effusion oboInOwl:hasDbXref MESH:D010490 semapv:UnspecifiedMatching DOID:118 pericardial effusion oboInOwl:hasDbXref NCI:C3319 semapv:UnspecifiedMatching +DOID:118 pericardial effusion oboInOwl:hasDbXref UMLS_CUI:C0031039 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref ICD10CM:E46 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref ICD9CM:263.9 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref MESH:D011502 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref NCI:C34952 semapv:UnspecifiedMatching DOID:11801 protein-energy malnutrition oboInOwl:hasDbXref UMLS_CUI:C0033677 semapv:UnspecifiedMatching -DOID:11809 bladder neck cancer oboInOwl:hasDbXref ICD10CM:C67.5 semapv:UnspecifiedMatching DOID:11809 bladder neck cancer oboInOwl:hasDbXref ICD9CM:188.5 semapv:UnspecifiedMatching DOID:11809 bladder neck cancer oboInOwl:hasDbXref UMLS_CUI:C0153613 semapv:UnspecifiedMatching +DOID:11809 bladder neck cancer oboInOwl:hasDbXref ICD10CM:C67.5 semapv:UnspecifiedMatching +DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref UMLS_CUI:C0153612 semapv:UnspecifiedMatching DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref ICD10CM:C67.4 semapv:UnspecifiedMatching DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref ICD9CM:188.4 semapv:UnspecifiedMatching -DOID:11811 urinary bladder posterior wall cancer oboInOwl:hasDbXref UMLS_CUI:C0153612 semapv:UnspecifiedMatching -DOID:11812 bladder sarcoma oboInOwl:hasDbXref UMLS_CUI:C0349666 semapv:UnspecifiedMatching DOID:11812 bladder sarcoma oboInOwl:hasDbXref NCI:C4669 semapv:UnspecifiedMatching -DOID:11813 bladder trigone cancer oboInOwl:hasDbXref UMLS_CUI:C0496826 semapv:UnspecifiedMatching +DOID:11812 bladder sarcoma oboInOwl:hasDbXref UMLS_CUI:C0349666 semapv:UnspecifiedMatching DOID:11813 bladder trigone cancer oboInOwl:hasDbXref ICD10CM:C67.0 semapv:UnspecifiedMatching DOID:11813 bladder trigone cancer oboInOwl:hasDbXref ICD9CM:188.0 semapv:UnspecifiedMatching +DOID:11813 bladder trigone cancer oboInOwl:hasDbXref UMLS_CUI:C0496826 semapv:UnspecifiedMatching DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref ICD10CM:C67.3 semapv:UnspecifiedMatching DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref ICD9CM:188.3 semapv:UnspecifiedMatching DOID:11814 urinary bladder anterior wall cancer oboInOwl:hasDbXref UMLS_CUI:C0153611 semapv:UnspecifiedMatching DOID:11816 vitreous syneresis oboInOwl:hasDbXref ICD10CM:H43.81 semapv:UnspecifiedMatching DOID:11816 vitreous syneresis oboInOwl:hasDbXref ICD9CM:379.21 semapv:UnspecifiedMatching DOID:11816 vitreous syneresis oboInOwl:hasDbXref UMLS_CUI:C0155366 semapv:UnspecifiedMatching -DOID:11817 urachus cancer oboInOwl:hasDbXref GARD:7836 semapv:UnspecifiedMatching -DOID:11817 urachus cancer oboInOwl:hasDbXref ICD10CM:C67.7 semapv:UnspecifiedMatching DOID:11817 urachus cancer oboInOwl:hasDbXref ICD9CM:188.7 semapv:UnspecifiedMatching DOID:11817 urachus cancer oboInOwl:hasDbXref UMLS_CUI:C0153615 semapv:UnspecifiedMatching -DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref NCI:C12337 semapv:UnspecifiedMatching -DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref UMLS_CUI:C0153614 semapv:UnspecifiedMatching +DOID:11817 urachus cancer oboInOwl:hasDbXref GARD:7836 semapv:UnspecifiedMatching +DOID:11817 urachus cancer oboInOwl:hasDbXref ICD10CM:C67.7 semapv:UnspecifiedMatching DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref ICD10CM:C67.6 semapv:UnspecifiedMatching DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref ICD9CM:188.6 semapv:UnspecifiedMatching +DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref NCI:C12337 semapv:UnspecifiedMatching +DOID:11818 ureteric orifice cancer oboInOwl:hasDbXref UMLS_CUI:C0153614 semapv:UnspecifiedMatching +DOID:11819 ureter cancer oboInOwl:hasDbXref OMIM:191600 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref ICD10CM:C66 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref ICD9CM:189.2 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref MESH:D014516 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref NCI:C7543 semapv:UnspecifiedMatching -DOID:11819 ureter cancer oboInOwl:hasDbXref OMIM:191600 semapv:UnspecifiedMatching DOID:11819 ureter cancer oboInOwl:hasDbXref UMLS_CUI:C0153619 semapv:UnspecifiedMatching +DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD9CM:188.1 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref NCI:C12332 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD10CM:C67.1 semapv:UnspecifiedMatching -DOID:11820 bladder dome cancer oboInOwl:hasDbXref ICD9CM:188.1 semapv:UnspecifiedMatching DOID:11820 bladder dome cancer oboInOwl:hasDbXref UMLS_CUI:C0496827 semapv:UnspecifiedMatching -DOID:11821 bladder lymphoma oboInOwl:hasDbXref NCI:C6164 semapv:UnspecifiedMatching DOID:11821 bladder lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332561 semapv:UnspecifiedMatching -DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref MESH:D006530 semapv:UnspecifiedMatching -DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0019212 semapv:UnspecifiedMatching -DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref NCI:C113400 semapv:UnspecifiedMatching -DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref ICD9CM:572.4 semapv:UnspecifiedMatching +DOID:11821 bladder lymphoma oboInOwl:hasDbXref NCI:C6164 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref GARD:6610 semapv:UnspecifiedMatching DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref ICD10CM:K76.7 semapv:UnspecifiedMatching -DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref GARD:7103 semapv:UnspecifiedMatching -DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10CM:E78.81 semapv:UnspecifiedMatching -DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref NCI:C27896 semapv:UnspecifiedMatching -DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref ORDO:139436 semapv:UnspecifiedMatching +DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref ICD9CM:572.4 semapv:UnspecifiedMatching +DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref MESH:D006530 semapv:UnspecifiedMatching +DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref NCI:C113400 semapv:UnspecifiedMatching +DOID:11823 hepatorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0019212 semapv:UnspecifiedMatching DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref UMLS_CUI:C0311284 semapv:UnspecifiedMatching -DOID:11829 degenerative myopia oboInOwl:hasDbXref UMLS_CUI:C0154778 semapv:UnspecifiedMatching -DOID:11829 degenerative myopia oboInOwl:hasDbXref NCI:C157149 semapv:UnspecifiedMatching -DOID:11829 degenerative myopia oboInOwl:hasDbXref MESH:D047728 semapv:UnspecifiedMatching -DOID:11829 degenerative myopia oboInOwl:hasDbXref ICD9CM:360.21 semapv:UnspecifiedMatching +DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref ORDO:139436 semapv:UnspecifiedMatching +DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref NCI:C27896 semapv:UnspecifiedMatching +DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref ICD10CM:E78.81 semapv:UnspecifiedMatching +DOID:11824 multicentric reticulohistiocytosis oboInOwl:hasDbXref GARD:7103 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref EFO:0004207 semapv:UnspecifiedMatching DOID:11829 degenerative myopia oboInOwl:hasDbXref ICD10CM:H44.2 semapv:UnspecifiedMatching +DOID:11829 degenerative myopia oboInOwl:hasDbXref ICD9CM:360.21 semapv:UnspecifiedMatching +DOID:11829 degenerative myopia oboInOwl:hasDbXref MESH:D047728 semapv:UnspecifiedMatching +DOID:11829 degenerative myopia oboInOwl:hasDbXref NCI:C157149 semapv:UnspecifiedMatching +DOID:11829 degenerative myopia oboInOwl:hasDbXref UMLS_CUI:C0154778 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:612717 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609994 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:612554 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:613959 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:609995 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:610320 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:612554 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:613969 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609259 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:609994 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:614167 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:615420 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:615431 semapv:UnspecifiedMatching @@ -15019,9 +15045,9 @@ DOID:11830 myopia oboInOwl:hasDbXref OMIM:615946 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref UMLS_CUI:C0027092 semapv:UnspecifiedMatching DOID:11830 myopia skos:exactMatch MESH:D009216 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:614166 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609258 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:613959 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609256 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:609259 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:608474 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:609257 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref EFO:0003927 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref ICD10CM:H52.1 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref ICD9CM:367.1 semapv:UnspecifiedMatching @@ -15029,12 +15055,12 @@ DOID:11830 myopia oboInOwl:hasDbXref MESH:D009216 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref NCI:C102533 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:160700 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:255500 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:609257 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:310460 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:603221 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:608367 semapv:UnspecifiedMatching -DOID:11830 myopia oboInOwl:hasDbXref OMIM:608474 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:609258 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:608908 semapv:UnspecifiedMatching +DOID:11830 myopia oboInOwl:hasDbXref OMIM:609256 semapv:UnspecifiedMatching DOID:11830 myopia oboInOwl:hasDbXref OMIM:300613 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref UMLS_CUI:C0155320 semapv:UnspecifiedMatching DOID:11831 cortical blindness oboInOwl:hasDbXref NCI:C118707 semapv:UnspecifiedMatching @@ -15053,8 +15079,8 @@ DOID:11836 clubfoot oboInOwl:hasDbXref UMLS_CUI:C0009081 semapv:UnspecifiedMatch DOID:11838 penis sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238352 semapv:UnspecifiedMatching DOID:11838 penis sarcoma oboInOwl:hasDbXref NCI:C7730 semapv:UnspecifiedMatching DOID:11839 glans penis cancer oboInOwl:hasDbXref UMLS_CUI:C0153599 semapv:UnspecifiedMatching -DOID:11839 glans penis cancer oboInOwl:hasDbXref ICD10CM:C60.1 semapv:UnspecifiedMatching DOID:11839 glans penis cancer oboInOwl:hasDbXref ICD9CM:187.2 semapv:UnspecifiedMatching +DOID:11839 glans penis cancer oboInOwl:hasDbXref ICD10CM:C60.1 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref ICD10CM:N04 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref ICD9CM:581 semapv:UnspecifiedMatching DOID:1184 nephrotic syndrome oboInOwl:hasDbXref MESH:D009404 semapv:UnspecifiedMatching @@ -15066,8 +15092,8 @@ DOID:11840 coronary artery vasospasm oboInOwl:hasDbXref UMLS_CUI:C0010073 semapv DOID:11843 coronary artery anomaly oboInOwl:hasDbXref GARD:1534 semapv:UnspecifiedMatching DOID:11843 coronary artery anomaly oboInOwl:hasDbXref ICD9CM:746.85 semapv:UnspecifiedMatching DOID:11843 coronary artery anomaly oboInOwl:hasDbXref UMLS_CUI:C0158623 semapv:UnspecifiedMatching -DOID:11847 coronary thrombosis oboInOwl:hasDbXref MESH:D003328 semapv:UnspecifiedMatching DOID:11847 coronary thrombosis oboInOwl:hasDbXref ICD10CM:I22 semapv:UnspecifiedMatching +DOID:11847 coronary thrombosis oboInOwl:hasDbXref MESH:D003328 semapv:UnspecifiedMatching DOID:11847 coronary thrombosis oboInOwl:hasDbXref UMLS_CUI:C0010072 semapv:UnspecifiedMatching DOID:11850 transient refractive change oboInOwl:hasDbXref UMLS_CUI:C0155000 semapv:UnspecifiedMatching DOID:11850 transient refractive change oboInOwl:hasDbXref ICD9CM:367.81 semapv:UnspecifiedMatching @@ -15082,12 +15108,12 @@ DOID:11864 peripheral focal chorioretinitis oboInOwl:hasDbXref ICD9CM:363.04 sem DOID:11864 peripheral focal chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0339394 semapv:UnspecifiedMatching DOID:1187 tibial neuropathy oboInOwl:hasDbXref MESH:D020429 semapv:UnspecifiedMatching DOID:1187 tibial neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751932 semapv:UnspecifiedMatching -DOID:11870 Pick's disease oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching DOID:11870 Pick's disease skos:exactMatch MESH:D020774 semapv:UnspecifiedMatching -DOID:11870 Pick's disease oboInOwl:hasDbXref NCI:C85008 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref UMLS_CUI:C0236642 semapv:UnspecifiedMatching -DOID:11870 Pick's disease oboInOwl:hasDbXref ICD9CM:331.11 semapv:UnspecifiedMatching +DOID:11870 Pick's disease oboInOwl:hasDbXref OMIM:172700 semapv:UnspecifiedMatching +DOID:11870 Pick's disease oboInOwl:hasDbXref NCI:C85008 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref GARD:7392 semapv:UnspecifiedMatching +DOID:11870 Pick's disease oboInOwl:hasDbXref ICD9CM:331.11 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref MESH:D020774 semapv:UnspecifiedMatching DOID:11870 Pick's disease oboInOwl:hasDbXref ICD10CM:G31.01 semapv:UnspecifiedMatching DOID:11871 macular keratitis oboInOwl:hasDbXref ICD10CM:H16.11 semapv:UnspecifiedMatching @@ -15099,239 +15125,239 @@ DOID:11874 abnormal threshold of rods oboInOwl:hasDbXref UMLS_CUI:C0155019 semap DOID:11875 denture stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:11875 denture stomatitis oboInOwl:hasDbXref MESH:D013282 semapv:UnspecifiedMatching DOID:11875 denture stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038364 semapv:UnspecifiedMatching -DOID:1188 mononeuropathy oboInOwl:hasDbXref ICD10CM:G58.9 semapv:UnspecifiedMatching -DOID:1188 mononeuropathy oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching DOID:1188 mononeuropathy oboInOwl:hasDbXref UMLS_CUI:C0494491 semapv:UnspecifiedMatching -DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041955 semapv:UnspecifiedMatching -DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref NCI:C3427 semapv:UnspecifiedMatching +DOID:1188 mononeuropathy oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching +DOID:1188 mononeuropathy oboInOwl:hasDbXref ICD10CM:G58.9 semapv:UnspecifiedMatching DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref MESH:D014516 semapv:UnspecifiedMatching +DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref NCI:C3427 semapv:UnspecifiedMatching +DOID:11885 ureteral benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041955 semapv:UnspecifiedMatching DOID:11887 ureter leiomyoma oboInOwl:hasDbXref NCI:C6161 semapv:UnspecifiedMatching DOID:11887 ureter leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336875 semapv:UnspecifiedMatching DOID:11888 schwannoma of ureter oboInOwl:hasDbXref NCI:C6162 semapv:UnspecifiedMatching DOID:11888 schwannoma of ureter oboInOwl:hasDbXref UMLS_CUI:C1336877 semapv:UnspecifiedMatching DOID:11889 female breast nipple and areola cancer oboInOwl:hasDbXref ICD9CM:174.0 semapv:UnspecifiedMatching DOID:11889 female breast nipple and areola cancer oboInOwl:hasDbXref UMLS_CUI:C0024621 semapv:UnspecifiedMatching -DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS_CUI:C0042258 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS_CUI:C0042237 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref NCI:C7410 semapv:UnspecifiedMatching +DOID:119 vaginal cancer oboInOwl:hasDbXref UMLS_CUI:C0042258 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref NCI:C3437 semapv:UnspecifiedMatching -DOID:119 vaginal cancer oboInOwl:hasDbXref ICD10CM:C52 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref ICD9CM:184.0 semapv:UnspecifiedMatching +DOID:119 vaginal cancer oboInOwl:hasDbXref ICD10CM:C52 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref GARD:9348 semapv:UnspecifiedMatching DOID:119 vaginal cancer oboInOwl:hasDbXref MESH:D014625 semapv:UnspecifiedMatching +DOID:11905 labium majus cancer oboInOwl:hasDbXref ICD10CM:C51.0 semapv:UnspecifiedMatching +DOID:11905 labium majus cancer oboInOwl:hasDbXref ICD9CM:184.1 semapv:UnspecifiedMatching DOID:11905 labium majus cancer oboInOwl:hasDbXref NCI:C7638 semapv:UnspecifiedMatching DOID:11905 labium majus cancer oboInOwl:hasDbXref UMLS_CUI:C0496814 semapv:UnspecifiedMatching -DOID:11905 labium majus cancer oboInOwl:hasDbXref ICD9CM:184.1 semapv:UnspecifiedMatching -DOID:11905 labium majus cancer oboInOwl:hasDbXref ICD10CM:C51.0 semapv:UnspecifiedMatching DOID:11907 ecthyma oboInOwl:hasDbXref MESH:D004473 semapv:UnspecifiedMatching DOID:11907 ecthyma oboInOwl:hasDbXref UMLS_CUI:C0013568 semapv:UnspecifiedMatching -DOID:11914 gastroparesis oboInOwl:hasDbXref ICD10CM:K31.84 semapv:UnspecifiedMatching -DOID:11914 gastroparesis oboInOwl:hasDbXref ICD9CM:536.3 semapv:UnspecifiedMatching -DOID:11914 gastroparesis oboInOwl:hasDbXref MESH:D018589 semapv:UnspecifiedMatching DOID:11914 gastroparesis oboInOwl:hasDbXref NCI:C80512 semapv:UnspecifiedMatching +DOID:11914 gastroparesis oboInOwl:hasDbXref MESH:D018589 semapv:UnspecifiedMatching DOID:11914 gastroparesis oboInOwl:hasDbXref UMLS_CUI:C0152020 semapv:UnspecifiedMatching +DOID:11914 gastroparesis oboInOwl:hasDbXref ICD10CM:K31.84 semapv:UnspecifiedMatching +DOID:11914 gastroparesis oboInOwl:hasDbXref ICD9CM:536.3 semapv:UnspecifiedMatching DOID:11917 tinea cruris oboInOwl:hasDbXref ICD9CM:110.3 semapv:UnspecifiedMatching DOID:11917 tinea cruris oboInOwl:hasDbXref NCI:C34535 semapv:UnspecifiedMatching DOID:11917 tinea cruris oboInOwl:hasDbXref UMLS_CUI:C0011638 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C0206727 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C0031118 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref NCI:C4972 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref NCI:C3321 semapv:UnspecifiedMatching -DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref MESH:D010524 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref NCI:C3321 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref NCI:C4972 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C0031118 semapv:UnspecifiedMatching +DOID:1192 peripheral nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C0206727 semapv:UnspecifiedMatching +DOID:11920 tracheal cancer oboInOwl:hasDbXref UMLS_CUI:C0153489 semapv:UnspecifiedMatching DOID:11920 tracheal cancer oboInOwl:hasDbXref ICD10CM:C33 semapv:UnspecifiedMatching DOID:11920 tracheal cancer oboInOwl:hasDbXref ICD9CM:162.0 semapv:UnspecifiedMatching DOID:11920 tracheal cancer oboInOwl:hasDbXref NCI:C9346 semapv:UnspecifiedMatching -DOID:11920 tracheal cancer oboInOwl:hasDbXref UMLS_CUI:C0153489 semapv:UnspecifiedMatching -DOID:11934 head and neck cancer oboInOwl:hasDbXref GARD:12425 semapv:UnspecifiedMatching -DOID:11934 head and neck cancer oboInOwl:hasDbXref MESH:D006258 semapv:UnspecifiedMatching DOID:11934 head and neck cancer oboInOwl:hasDbXref NCI:C3077 semapv:UnspecifiedMatching DOID:11934 head and neck cancer oboInOwl:hasDbXref UMLS_CUI:C0018671 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref NCI:C26802 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D007562 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS_CUI:C0022336 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10CM:A81.0 semapv:UnspecifiedMatching -DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref GARD:6956 semapv:UnspecifiedMatching +DOID:11934 head and neck cancer oboInOwl:hasDbXref GARD:12425 semapv:UnspecifiedMatching +DOID:11934 head and neck cancer oboInOwl:hasDbXref MESH:D006258 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref EFO:0004226 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref GARD:6956 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD10CM:A81.0 semapv:UnspecifiedMatching DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref ICD9CM:046.1 semapv:UnspecifiedMatching -DOID:1195 ischemic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0238309 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D007562 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref NCI:C26802 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:123400 semapv:UnspecifiedMatching +DOID:11949 Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS_CUI:C0022336 semapv:UnspecifiedMatching DOID:1195 ischemic neuropathy oboInOwl:hasDbXref NCI:C27025 semapv:UnspecifiedMatching -DOID:11963 esophagitis oboInOwl:hasDbXref ICD10CM:K20 semapv:UnspecifiedMatching -DOID:11963 esophagitis oboInOwl:hasDbXref ICD9CM:530.1 semapv:UnspecifiedMatching -DOID:11963 esophagitis oboInOwl:hasDbXref MESH:D004941 semapv:UnspecifiedMatching +DOID:1195 ischemic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0238309 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref NCI:C9224 semapv:UnspecifiedMatching +DOID:11963 esophagitis oboInOwl:hasDbXref MESH:D004941 semapv:UnspecifiedMatching DOID:11963 esophagitis oboInOwl:hasDbXref UMLS_CUI:C0014868 semapv:UnspecifiedMatching +DOID:11963 esophagitis oboInOwl:hasDbXref ICD10CM:K20 semapv:UnspecifiedMatching +DOID:11963 esophagitis oboInOwl:hasDbXref ICD9CM:530.1 semapv:UnspecifiedMatching DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref ICD10CM:N95.2 semapv:UnspecifiedMatching DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref ICD9CM:627.3 semapv:UnspecifiedMatching DOID:11968 postmenopausal atrophic vaginitis oboInOwl:hasDbXref UMLS_CUI:C0156409 semapv:UnspecifiedMatching DOID:11971 synostosis oboInOwl:hasDbXref MESH:D013580 semapv:UnspecifiedMatching DOID:11971 synostosis oboInOwl:hasDbXref UMLS_CUI:C0039093 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref UMLS_CUI:C0155299 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD9CM:377.23 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref MESH:C535970 semapv:UnspecifiedMatching -DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref GARD:8502 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref GARD:13354 semapv:UnspecifiedMatching +DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref GARD:8502 semapv:UnspecifiedMatching DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD10CM:Q14.2 semapv:UnspecifiedMatching -DOID:11976 botulism oboInOwl:hasDbXref GARD:943 semapv:UnspecifiedMatching +DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref ICD9CM:377.23 semapv:UnspecifiedMatching +DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref MESH:C535970 semapv:UnspecifiedMatching +DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref OMIM:120430 semapv:UnspecifiedMatching +DOID:11975 coloboma of optic nerve oboInOwl:hasDbXref UMLS_CUI:C0155299 semapv:UnspecifiedMatching +DOID:11976 botulism oboInOwl:hasDbXref UMLS_CUI:C0006057 semapv:UnspecifiedMatching +DOID:11976 botulism oboInOwl:hasDbXref NCI:C84599 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref ICD10CM:A05.1 semapv:UnspecifiedMatching +DOID:11976 botulism oboInOwl:hasDbXref GARD:943 semapv:UnspecifiedMatching DOID:11976 botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching -DOID:11976 botulism oboInOwl:hasDbXref NCI:C84599 semapv:UnspecifiedMatching -DOID:11976 botulism oboInOwl:hasDbXref UMLS_CUI:C0006057 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref ICD9CM:278.01 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref MESH:D009767 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref NCI:C34858 semapv:UnspecifiedMatching DOID:11981 morbid obesity oboInOwl:hasDbXref UMLS_CUI:C0028756 semapv:UnspecifiedMatching -DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ORDO:739 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref UMLS_CUI:C0032897 semapv:UnspecifiedMatching -DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref NCI:C75463 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref OMIM:176270 semapv:UnspecifiedMatching +DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref NCI:C75463 semapv:UnspecifiedMatching +DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ORDO:739 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ICD9CM:759.81 semapv:UnspecifiedMatching -DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref ICD10CM:Q87.11 semapv:UnspecifiedMatching DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref GARD:5575 semapv:UnspecifiedMatching -DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching -DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C34449 semapv:UnspecifiedMatching -DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007194 semapv:UnspecifiedMatching -DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref KEGG:05410 semapv:UnspecifiedMatching +DOID:11983 Prader-Willi syndrome oboInOwl:hasDbXref MESH:D011218 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.1 semapv:UnspecifiedMatching +DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref KEGG:05410 semapv:UnspecifiedMatching DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D002312 semapv:UnspecifiedMatching +DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref NCI:C34449 semapv:UnspecifiedMatching +DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref ORDO:217569 semapv:UnspecifiedMatching +DOID:11984 hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007194 semapv:UnspecifiedMatching DOID:11988 conjunctival concretion oboInOwl:hasDbXref ICD10CM:H11.12 semapv:UnspecifiedMatching DOID:11988 conjunctival concretion oboInOwl:hasDbXref ICD9CM:372.54 semapv:UnspecifiedMatching DOID:11988 conjunctival concretion oboInOwl:hasDbXref UMLS_CUI:C0155162 semapv:UnspecifiedMatching -DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref ICD10CM:A21.0 semapv:UnspecifiedMatching DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref ICD9CM:021.0 semapv:UnspecifiedMatching +DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref ICD10CM:A21.0 semapv:UnspecifiedMatching DOID:11990 ulceroglandular tularemia oboInOwl:hasDbXref UMLS_CUI:C0152941 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref NCI:C84985 semapv:UnspecifiedMatching -DOID:11991 osteopoikilosis oboInOwl:hasDbXref UMLS_CUI:C0029455 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref MESH:D010023 semapv:UnspecifiedMatching -DOID:11991 osteopoikilosis oboInOwl:hasDbXref GARD:4158 semapv:UnspecifiedMatching +DOID:11991 osteopoikilosis oboInOwl:hasDbXref UMLS_CUI:C0029455 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref ICD10CM:Q78.8 semapv:UnspecifiedMatching +DOID:11991 osteopoikilosis oboInOwl:hasDbXref GARD:4158 semapv:UnspecifiedMatching DOID:11991 osteopoikilosis oboInOwl:hasDbXref ICD9CM:756.53 semapv:UnspecifiedMatching +DOID:11994 atrophy of testis oboInOwl:hasDbXref UMLS_CUI:C0156312 semapv:UnspecifiedMatching +DOID:11994 atrophy of testis oboInOwl:hasDbXref NCI:C123259 semapv:UnspecifiedMatching DOID:11994 atrophy of testis oboInOwl:hasDbXref ICD10CM:N50.0 semapv:UnspecifiedMatching DOID:11994 atrophy of testis oboInOwl:hasDbXref ICD9CM:608.3 semapv:UnspecifiedMatching -DOID:11994 atrophy of testis oboInOwl:hasDbXref NCI:C123259 semapv:UnspecifiedMatching -DOID:11994 atrophy of testis oboInOwl:hasDbXref UMLS_CUI:C0156312 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref ICD10CM:N44.02 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref ICD9CM:608.2 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref MESH:D013086 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref NCI:C26885 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref OMIM:187400 semapv:UnspecifiedMatching DOID:11996 spermatic cord torsion oboInOwl:hasDbXref UMLS_CUI:C0037856 semapv:UnspecifiedMatching -DOID:11997 spermatocele oboInOwl:hasDbXref UMLS_CUI:C0037859 semapv:UnspecifiedMatching -DOID:11997 spermatocele oboInOwl:hasDbXref NCI:C120909 semapv:UnspecifiedMatching +DOID:11997 spermatocele oboInOwl:hasDbXref ICD10CM:N43.4 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref ICD9CM:608.1 semapv:UnspecifiedMatching DOID:11997 spermatocele oboInOwl:hasDbXref MESH:D013088 semapv:UnspecifiedMatching -DOID:11997 spermatocele oboInOwl:hasDbXref ICD10CM:N43.4 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C57 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref ICD9CM:184 semapv:UnspecifiedMatching +DOID:11997 spermatocele oboInOwl:hasDbXref NCI:C120909 semapv:UnspecifiedMatching +DOID:11997 spermatocele oboInOwl:hasDbXref UMLS_CUI:C0037859 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0699889 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0153585 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0017416 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref NCI:C4913 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref MESH:D005833 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref ICD9CM:184 semapv:UnspecifiedMatching +DOID:120 female reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C57 semapv:UnspecifiedMatching DOID:120 female reproductive organ cancer oboInOwl:hasDbXref NCI:C3053 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref NCI:C4913 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0017416 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0153585 semapv:UnspecifiedMatching -DOID:120 female reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0699889 semapv:UnspecifiedMatching DOID:12001 tracheal lymphoma oboInOwl:hasDbXref NCI:C6248 semapv:UnspecifiedMatching DOID:12001 tracheal lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336773 semapv:UnspecifiedMatching DOID:12002 trachea sarcoma oboInOwl:hasDbXref NCI:C6050 semapv:UnspecifiedMatching DOID:12002 trachea sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336774 semapv:UnspecifiedMatching -DOID:12003 trachea squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345946 semapv:UnspecifiedMatching DOID:12003 trachea squamous cell carcinoma oboInOwl:hasDbXref NCI:C4448 semapv:UnspecifiedMatching +DOID:12003 trachea squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345946 semapv:UnspecifiedMatching DOID:1201 trigeminal nerve neoplasm oboInOwl:hasDbXref NCI:C5122 semapv:UnspecifiedMatching DOID:1201 trigeminal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263897 semapv:UnspecifiedMatching -DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref GARD:9790 semapv:UnspecifiedMatching -DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.01 semapv:UnspecifiedMatching -DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD9CM:377.41 semapv:UnspecifiedMatching DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref MESH:D018917 semapv:UnspecifiedMatching DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155305 semapv:UnspecifiedMatching +DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD9CM:377.41 semapv:UnspecifiedMatching +DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref GARD:9790 semapv:UnspecifiedMatching +DOID:12010 anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.01 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.1 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.1 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref NCI:C5572 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153635 semapv:UnspecifiedMatching DOID:12016 frontal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263886 semapv:UnspecifiedMatching -DOID:12028 Conn's syndrome oboInOwl:hasDbXref NCI:C34510 semapv:UnspecifiedMatching -DOID:12028 Conn's syndrome oboInOwl:hasDbXref UMLS_CUI:C1384514 semapv:UnspecifiedMatching -DOID:12028 Conn's syndrome oboInOwl:hasDbXref ICD9CM:255.12 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref GARD:7456 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref ICD10CM:E26.01 semapv:UnspecifiedMatching +DOID:12028 Conn's syndrome oboInOwl:hasDbXref ICD9CM:255.12 semapv:UnspecifiedMatching DOID:12028 Conn's syndrome oboInOwl:hasDbXref MESH:D006929 semapv:UnspecifiedMatching -DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref ICD10CM:H44.13 semapv:UnspecifiedMatching -DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref ICD9CM:360.11 semapv:UnspecifiedMatching -DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 semapv:UnspecifiedMatching +DOID:12028 Conn's syndrome oboInOwl:hasDbXref NCI:C34510 semapv:UnspecifiedMatching +DOID:12028 Conn's syndrome oboInOwl:hasDbXref UMLS_CUI:C1384514 semapv:UnspecifiedMatching DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref UMLS_CUI:C0029077 semapv:UnspecifiedMatching +DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref MESH:D009879 semapv:UnspecifiedMatching +DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref ICD9CM:360.11 semapv:UnspecifiedMatching +DOID:12029 sympathetic ophthalmia oboInOwl:hasDbXref ICD10CM:H44.13 semapv:UnspecifiedMatching DOID:1203 drug-induced mental disorder oboInOwl:hasDbXref ICD9CM:292.8 semapv:UnspecifiedMatching DOID:1203 drug-induced mental disorder oboInOwl:hasDbXref UMLS_CUI:C0154325 semapv:UnspecifiedMatching -DOID:12030 panuveitis oboInOwl:hasDbXref UMLS_CUI:C0030343 semapv:UnspecifiedMatching -DOID:12030 panuveitis oboInOwl:hasDbXref MESH:D015864 semapv:UnspecifiedMatching -DOID:12030 panuveitis oboInOwl:hasDbXref NCI:C84989 semapv:UnspecifiedMatching -DOID:12030 panuveitis oboInOwl:hasDbXref ICD10CM:H44.11 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref GARD:8577 semapv:UnspecifiedMatching +DOID:12030 panuveitis oboInOwl:hasDbXref ICD10CM:H44.11 semapv:UnspecifiedMatching DOID:12030 panuveitis oboInOwl:hasDbXref ICD9CM:360.12 semapv:UnspecifiedMatching +DOID:12030 panuveitis oboInOwl:hasDbXref MESH:D015864 semapv:UnspecifiedMatching +DOID:12030 panuveitis oboInOwl:hasDbXref NCI:C84989 semapv:UnspecifiedMatching +DOID:12030 panuveitis oboInOwl:hasDbXref UMLS_CUI:C0030343 semapv:UnspecifiedMatching +DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref UMLS_CUI:C0270204 semapv:UnspecifiedMatching DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref ICD10CM:P57.0 semapv:UnspecifiedMatching DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref ICD9CM:773.4 semapv:UnspecifiedMatching DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref NCI:C101270 semapv:UnspecifiedMatching -DOID:12043 kernicterus due to isoimmunization oboInOwl:hasDbXref UMLS_CUI:C0270204 semapv:UnspecifiedMatching +DOID:1205 allergic disease oboInOwl:hasDbXref UMLS_CUI:C0020517 semapv:UnspecifiedMatching +DOID:1205 allergic disease oboInOwl:hasDbXref NCI:C3114 semapv:UnspecifiedMatching DOID:1205 allergic disease oboInOwl:hasDbXref ICD10CM:T78.40 semapv:UnspecifiedMatching DOID:1205 allergic disease oboInOwl:hasDbXref MESH:D006967 semapv:UnspecifiedMatching -DOID:1205 allergic disease oboInOwl:hasDbXref NCI:C3114 semapv:UnspecifiedMatching -DOID:1205 allergic disease oboInOwl:hasDbXref UMLS_CUI:C0020517 semapv:UnspecifiedMatching +DOID:12053 cryptococcosis oboInOwl:hasDbXref GARD:6218 semapv:UnspecifiedMatching +DOID:12053 cryptococcosis oboInOwl:hasDbXref ICD10CM:B45 semapv:UnspecifiedMatching +DOID:12053 cryptococcosis oboInOwl:hasDbXref ICD9CM:117.5 semapv:UnspecifiedMatching +DOID:12053 cryptococcosis oboInOwl:hasDbXref MESH:D003453 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref NCI:C2967 semapv:UnspecifiedMatching DOID:12053 cryptococcosis oboInOwl:hasDbXref UMLS_CUI:C0010414 semapv:UnspecifiedMatching -DOID:12053 cryptococcosis oboInOwl:hasDbXref MESH:D003453 semapv:UnspecifiedMatching DOID:12053 cryptococcosis skos:exactMatch MESH:D003453 semapv:UnspecifiedMatching -DOID:12053 cryptococcosis oboInOwl:hasDbXref ICD10CM:B45 semapv:UnspecifiedMatching -DOID:12053 cryptococcosis oboInOwl:hasDbXref GARD:6218 semapv:UnspecifiedMatching -DOID:12053 cryptococcosis oboInOwl:hasDbXref ICD9CM:117.5 semapv:UnspecifiedMatching -DOID:12055 sarcoid meningitis oboInOwl:hasDbXref UMLS_CUI:C0154648 semapv:UnspecifiedMatching DOID:12055 sarcoid meningitis oboInOwl:hasDbXref ICD10CM:D86.81 semapv:UnspecifiedMatching DOID:12055 sarcoid meningitis oboInOwl:hasDbXref ICD9CM:321.4 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref GARD:5696 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref ICD10CM:F84.2 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching +DOID:12055 sarcoid meningitis oboInOwl:hasDbXref UMLS_CUI:C0154648 semapv:UnspecifiedMatching +DOID:1206 Rett syndrome oboInOwl:hasDbXref UMLS_CUI:C0035372 semapv:UnspecifiedMatching +DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref NCI:C75488 semapv:UnspecifiedMatching DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:312750 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref OMIM:613454 semapv:UnspecifiedMatching -DOID:1206 Rett syndrome oboInOwl:hasDbXref UMLS_CUI:C0035372 semapv:UnspecifiedMatching +DOID:1206 Rett syndrome oboInOwl:hasDbXref ICD10CM:F84.2 semapv:UnspecifiedMatching +DOID:1206 Rett syndrome oboInOwl:hasDbXref GARD:5696 semapv:UnspecifiedMatching +DOID:1206 Rett syndrome oboInOwl:hasDbXref MESH:D015518 semapv:UnspecifiedMatching DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref NCI:C6631 semapv:UnspecifiedMatching DOID:12064 mediastinum neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1334674 semapv:UnspecifiedMatching +DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref UMLS_CUI:C1135229 semapv:UnspecifiedMatching DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref GARD:10930 semapv:UnspecifiedMatching DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref ICD10CM:K31.82 semapv:UnspecifiedMatching DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref ICD9CM:537.84 semapv:UnspecifiedMatching -DOID:12070 Dieulafoy lesion oboInOwl:hasDbXref UMLS_CUI:C1135229 semapv:UnspecifiedMatching -DOID:12072 pylorospasm oboInOwl:hasDbXref UMLS_CUI:C0152163 semapv:UnspecifiedMatching DOID:12072 pylorospasm oboInOwl:hasDbXref ICD9CM:537.81 semapv:UnspecifiedMatching +DOID:12072 pylorospasm oboInOwl:hasDbXref UMLS_CUI:C0152163 semapv:UnspecifiedMatching DOID:12084 transient arthropathy oboInOwl:hasDbXref ICD9CM:716.41 semapv:UnspecifiedMatching DOID:12084 transient arthropathy oboInOwl:hasDbXref UMLS_CUI:C0158007 semapv:UnspecifiedMatching -DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref ICD10CM:H16.44 semapv:UnspecifiedMatching DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref ICD9CM:370.63 semapv:UnspecifiedMatching DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref UMLS_CUI:C0155095 semapv:UnspecifiedMatching -DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref ICD10CM:H46.2 semapv:UnspecifiedMatching -DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref ICD9CM:377.33 semapv:UnspecifiedMatching +DOID:12087 deep corneal vascularisation oboInOwl:hasDbXref ICD10CM:H16.44 semapv:UnspecifiedMatching DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155302 semapv:UnspecifiedMatching +DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref ICD9CM:377.33 semapv:UnspecifiedMatching +DOID:1209 nutritional optic neuropathy oboInOwl:hasDbXref ICD10CM:H46.2 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref ICD10CM:A25.0 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref ICD9CM:026.0 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref MESH:D011906 semapv:UnspecifiedMatching DOID:12096 sodoku disease oboInOwl:hasDbXref UMLS_CUI:C0152062 semapv:UnspecifiedMatching -DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref UMLS_CUI:C0040997 semapv:UnspecifiedMatching +DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref OMIM:190400 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref MESH:D014277 semapv:UnspecifiedMatching -DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD9CM:350.1 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD10CM:G50.0 semapv:UnspecifiedMatching DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref GARD:7805 semapv:UnspecifiedMatching +DOID:12098 trigeminal neuralgia oboInOwl:hasDbXref ICD9CM:350.1 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref MESH:D014623 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref NCI:C26910 semapv:UnspecifiedMatching DOID:121 vaginal disease oboInOwl:hasDbXref UMLS_CUI:C0042251 semapv:UnspecifiedMatching -DOID:1210 optic neuritis oboInOwl:hasDbXref GARD:7320 semapv:UnspecifiedMatching -DOID:1210 optic neuritis oboInOwl:hasDbXref ICD10CM:H46 semapv:UnspecifiedMatching -DOID:1210 optic neuritis oboInOwl:hasDbXref ICD9CM:377.3 semapv:UnspecifiedMatching -DOID:1210 optic neuritis oboInOwl:hasDbXref MESH:D009902 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref NCI:C84950 semapv:UnspecifiedMatching DOID:1210 optic neuritis oboInOwl:hasDbXref UMLS_CUI:C0029134 semapv:UnspecifiedMatching +DOID:1210 optic neuritis oboInOwl:hasDbXref MESH:D009902 semapv:UnspecifiedMatching +DOID:1210 optic neuritis oboInOwl:hasDbXref ICD9CM:377.3 semapv:UnspecifiedMatching +DOID:1210 optic neuritis oboInOwl:hasDbXref ICD10CM:H46 semapv:UnspecifiedMatching +DOID:1210 optic neuritis oboInOwl:hasDbXref GARD:7320 semapv:UnspecifiedMatching DOID:12105 inflammatory spondylopathy oboInOwl:hasDbXref ICD9CM:720.81 semapv:UnspecifiedMatching DOID:12105 inflammatory spondylopathy oboInOwl:hasDbXref UMLS_CUI:C0021396 semapv:UnspecifiedMatching -DOID:12108 bullous retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0344289 semapv:UnspecifiedMatching DOID:12108 bullous retinoschisis oboInOwl:hasDbXref ICD9CM:361.12 semapv:UnspecifiedMatching +DOID:12108 bullous retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0344289 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref GARD:11894 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD10CM:J84.02 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref ICD9CM:516.2 semapv:UnspecifiedMatching @@ -15339,82 +15365,82 @@ DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref MESH:C562405 sem DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref OMIM:265100 semapv:UnspecifiedMatching DOID:12117 pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS_CUI:C0155912 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref UMLS_CUI:C0020807 semapv:UnspecifiedMatching +DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ORDO:99931 semapv:UnspecifiedMatching +DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD10CM:J84.03 semapv:UnspecifiedMatching -DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD9CM:516.1 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref MESH:C536281 semapv:UnspecifiedMatching DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:178550 semapv:UnspecifiedMatching -DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref OMIM:235500 semapv:UnspecifiedMatching -DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ORDO:99931 semapv:UnspecifiedMatching -DOID:12119 hemosiderosis oboInOwl:hasDbXref UMLS_CUI:C0019114 semapv:UnspecifiedMatching -DOID:12119 hemosiderosis oboInOwl:hasDbXref MESH:D006486 semapv:UnspecifiedMatching +DOID:12118 pulmonary hemosiderosis oboInOwl:hasDbXref ICD9CM:516.1 semapv:UnspecifiedMatching DOID:12119 hemosiderosis oboInOwl:hasDbXref GARD:6595 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10CM:J84.01 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD9CM:516.0 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref MESH:D011649 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref NCI:C85037 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:265120 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching +DOID:12119 hemosiderosis oboInOwl:hasDbXref MESH:D006486 semapv:UnspecifiedMatching +DOID:12119 hemosiderosis oboInOwl:hasDbXref UMLS_CUI:C0019114 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS_CUI:C0034050 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:614370 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610921 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:610913 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:300770 semapv:UnspecifiedMatching DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ORDO:264675 semapv:UnspecifiedMatching -DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref UMLS_CUI:C0034050 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref NCI:C85037 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref MESH:D011649 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD9CM:516.0 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref ICD10CM:J84.01 semapv:UnspecifiedMatching +DOID:12120 pulmonary alveolar proteinosis oboInOwl:hasDbXref OMIM:265120 semapv:UnspecifiedMatching DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref ICD10CM:J84.10 semapv:UnspecifiedMatching DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref ICD9CM:515 semapv:UnspecifiedMatching DOID:12123 postinflammatory pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0175999 semapv:UnspecifiedMatching DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref UMLS_CUI:C0155351 semapv:UnspecifiedMatching -DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref ICD10CM:H15.11 semapv:UnspecifiedMatching DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref ICD9CM:379.01 semapv:UnspecifiedMatching +DOID:12124 episcleritis periodica fugax oboInOwl:hasDbXref ICD10CM:H15.11 semapv:UnspecifiedMatching DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.23 semapv:UnspecifiedMatching DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.35 semapv:UnspecifiedMatching DOID:12125 neurotrophic keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155084 semapv:UnspecifiedMatching +DOID:12128 pica disease oboInOwl:hasDbXref UMLS_CUI:C0031873 semapv:UnspecifiedMatching DOID:12128 pica disease oboInOwl:hasDbXref ICD9CM:307.52 semapv:UnspecifiedMatching DOID:12128 pica disease oboInOwl:hasDbXref MESH:D010842 semapv:UnspecifiedMatching DOID:12128 pica disease oboInOwl:hasDbXref NCI:C92566 semapv:UnspecifiedMatching -DOID:12128 pica disease oboInOwl:hasDbXref UMLS_CUI:C0031873 semapv:UnspecifiedMatching +DOID:12129 bulimia nervosa oboInOwl:hasDbXref UMLS_CUI:C0006370 semapv:UnspecifiedMatching DOID:12129 bulimia nervosa oboInOwl:hasDbXref ICD10CM:F50.2 semapv:UnspecifiedMatching DOID:12129 bulimia nervosa oboInOwl:hasDbXref MESH:D002032 semapv:UnspecifiedMatching -DOID:12129 bulimia nervosa oboInOwl:hasDbXref UMLS_CUI:C0006370 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS_CUI:C3495801 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref NCI:C3444 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD9CM:446.4 semapv:UnspecifiedMatching -DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10CM:M31.3 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref GARD:7880 semapv:UnspecifiedMatching +DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD10CM:M31.3 semapv:UnspecifiedMatching +DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref ICD9CM:446.4 semapv:UnspecifiedMatching DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref MESH:D014890 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref GARD:6591 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD10CM:D66 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD9CM:286.0 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref MESH:D006467 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref NCI:C27146 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref NCI:C3444 semapv:UnspecifiedMatching +DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref OMIM:608710 semapv:UnspecifiedMatching +DOID:12132 granulomatosis with polyangiitis oboInOwl:hasDbXref UMLS_CUI:C3495801 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ORDO:98878 semapv:UnspecifiedMatching -DOID:12134 factor VIII deficiency oboInOwl:hasDbXref UMLS_CUI:C0019069 semapv:UnspecifiedMatching DOID:12134 factor VIII deficiency skos:exactMatch MESH:D006467 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref UMLS_CUI:C0019069 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref NCI:C27146 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD9CM:286.0 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref ICD10CM:D66 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref GARD:6591 semapv:UnspecifiedMatching +DOID:12134 factor VIII deficiency oboInOwl:hasDbXref MESH:D006467 semapv:UnspecifiedMatching +DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching +DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD9CM:300.4 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref MESH:D019263 semapv:UnspecifiedMatching -DOID:12139 dysthymic disorder oboInOwl:hasDbXref UMLS_CUI:C0013415 semapv:UnspecifiedMatching DOID:12139 dysthymic disorder oboInOwl:hasDbXref NCI:C34562 semapv:UnspecifiedMatching -DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD9CM:300.4 semapv:UnspecifiedMatching -DOID:12139 dysthymic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching +DOID:12139 dysthymic disorder oboInOwl:hasDbXref UMLS_CUI:C0013415 semapv:UnspecifiedMatching DOID:1214 tympanosclerosis oboInOwl:hasDbXref ICD9CM:385.09 semapv:UnspecifiedMatching DOID:1214 tympanosclerosis oboInOwl:hasDbXref UMLS_CUI:C0155477 semapv:UnspecifiedMatching +DOID:12140 Chagas disease oboInOwl:hasDbXref KEGG:05142 semapv:UnspecifiedMatching DOID:12140 Chagas disease oboInOwl:hasDbXref GARD:6030 semapv:UnspecifiedMatching DOID:12140 Chagas disease oboInOwl:hasDbXref ICD9CM:086.2 semapv:UnspecifiedMatching -DOID:12140 Chagas disease oboInOwl:hasDbXref KEGG:05142 semapv:UnspecifiedMatching DOID:12140 Chagas disease oboInOwl:hasDbXref UMLS_CUI:C0007932 semapv:UnspecifiedMatching -DOID:12143 neurogenic bladder oboInOwl:hasDbXref ICD9CM:596.54 semapv:UnspecifiedMatching -DOID:12143 neurogenic bladder oboInOwl:hasDbXref MESH:D001750 semapv:UnspecifiedMatching -DOID:12143 neurogenic bladder oboInOwl:hasDbXref NCI:C79696 semapv:UnspecifiedMatching DOID:12143 neurogenic bladder oboInOwl:hasDbXref UMLS_CUI:C0005697 semapv:UnspecifiedMatching +DOID:12143 neurogenic bladder oboInOwl:hasDbXref NCI:C79696 semapv:UnspecifiedMatching +DOID:12143 neurogenic bladder oboInOwl:hasDbXref MESH:D001750 semapv:UnspecifiedMatching +DOID:12143 neurogenic bladder oboInOwl:hasDbXref ICD9CM:596.54 semapv:UnspecifiedMatching DOID:12144 low compliance bladder oboInOwl:hasDbXref ICD9CM:596.52 semapv:UnspecifiedMatching DOID:12144 low compliance bladder oboInOwl:hasDbXref UMLS_CUI:C0489967 semapv:UnspecifiedMatching DOID:12145 detrusor sphincter dyssynergia oboInOwl:hasDbXref ICD9CM:596.55 semapv:UnspecifiedMatching DOID:12145 detrusor sphincter dyssynergia oboInOwl:hasDbXref UMLS_CUI:C0341747 semapv:UnspecifiedMatching -DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0152069 semapv:UnspecifiedMatching -DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref MESH:C536591 semapv:UnspecifiedMatching +DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref GARD:207 semapv:UnspecifiedMatching DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref ICD10CM:B67.7 semapv:UnspecifiedMatching DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref ICD9CM:122.7 semapv:UnspecifiedMatching -DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref GARD:207 semapv:UnspecifiedMatching +DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref MESH:C536591 semapv:UnspecifiedMatching +DOID:12148 alveolar echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0152069 semapv:UnspecifiedMatching DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref ICD10CM:A87.2 semapv:UnspecifiedMatching DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref MESH:D008216 semapv:UnspecifiedMatching DOID:12155 lymphocytic choriomeningitis oboInOwl:hasDbXref NCI:C174114 semapv:UnspecifiedMatching @@ -15428,220 +15454,220 @@ DOID:12157 aseptic meningitis oboInOwl:hasDbXref ICD10CM:G03.0 semapv:Unspecifie DOID:12157 aseptic meningitis oboInOwl:hasDbXref MESH:D008582 semapv:UnspecifiedMatching DOID:12157 aseptic meningitis oboInOwl:hasDbXref NCI:C118299 semapv:UnspecifiedMatching DOID:12157 aseptic meningitis oboInOwl:hasDbXref UMLS_CUI:C0025290 semapv:UnspecifiedMatching -DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C1320640 semapv:UnspecifiedMatching -DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref NCI:C34919 semapv:UnspecifiedMatching DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref ICD10CM:H35.4 semapv:UnspecifiedMatching DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref ICD9CM:362.6 semapv:UnspecifiedMatching +DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref NCI:C34919 semapv:UnspecifiedMatching +DOID:12161 peripheral retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C1320640 semapv:UnspecifiedMatching DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref ICD10CM:H35.45 semapv:UnspecifiedMatching DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref ICD9CM:362.65 semapv:UnspecifiedMatching DOID:12162 pseudoretinitis pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0154858 semapv:UnspecifiedMatching -DOID:12163 senile reticular retinal degeneration oboInOwl:hasDbXref ICD9CM:362.64 semapv:UnspecifiedMatching DOID:12163 senile reticular retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154857 semapv:UnspecifiedMatching +DOID:12163 senile reticular retinal degeneration oboInOwl:hasDbXref ICD9CM:362.64 semapv:UnspecifiedMatching +DOID:12164 Blessig's cysts oboInOwl:hasDbXref UMLS_CUI:C0154855 semapv:UnspecifiedMatching DOID:12164 Blessig's cysts oboInOwl:hasDbXref ICD10CM:H35.42 semapv:UnspecifiedMatching DOID:12164 Blessig's cysts oboInOwl:hasDbXref ICD9CM:362.62 semapv:UnspecifiedMatching -DOID:12164 Blessig's cysts oboInOwl:hasDbXref UMLS_CUI:C0154855 semapv:UnspecifiedMatching -DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref UMLS_CUI:C0154856 semapv:UnspecifiedMatching DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref ICD10CM:H35.41 semapv:UnspecifiedMatching DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref ICD9CM:362.63 semapv:UnspecifiedMatching -DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154854 semapv:UnspecifiedMatching -DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref ICD9CM:362.61 semapv:UnspecifiedMatching +DOID:12165 retinal lattice degeneration oboInOwl:hasDbXref UMLS_CUI:C0154856 semapv:UnspecifiedMatching DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref ICD10CM:H35.43 semapv:UnspecifiedMatching +DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref ICD9CM:362.61 semapv:UnspecifiedMatching +DOID:12166 cobblestone retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154854 semapv:UnspecifiedMatching DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref ICD10CM:H35.46 semapv:UnspecifiedMatching DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref ICD9CM:362.66 semapv:UnspecifiedMatching DOID:12167 secondary vitreoretinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154859 semapv:UnspecifiedMatching -DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref ICD10CM:G56.2 semapv:UnspecifiedMatching DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref ICD9CM:354.2 semapv:UnspecifiedMatching +DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref ICD10CM:G56.2 semapv:UnspecifiedMatching DOID:12168 ulnar nerve lesion oboInOwl:hasDbXref UMLS_CUI:C1288279 semapv:UnspecifiedMatching +DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref UMLS_CUI:C0007286 semapv:UnspecifiedMatching +DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref OMIM:115430 semapv:UnspecifiedMatching +DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref NCI:C34450 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref ICD10CM:G56.0 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref ICD9CM:354.0 semapv:UnspecifiedMatching DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref MESH:D002349 semapv:UnspecifiedMatching -DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref NCI:C34450 semapv:UnspecifiedMatching -DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref OMIM:115430 semapv:UnspecifiedMatching -DOID:12169 carpal tunnel syndrome oboInOwl:hasDbXref UMLS_CUI:C0007286 semapv:UnspecifiedMatching DOID:1217 fascioloidiasis oboInOwl:hasDbXref MESH:D005213 semapv:UnspecifiedMatching DOID:1217 fascioloidiasis oboInOwl:hasDbXref UMLS_CUI:C0015655 semapv:UnspecifiedMatching -DOID:12170 radial nerve lesion oboInOwl:hasDbXref UMLS_CUI:C0154744 semapv:UnspecifiedMatching -DOID:12170 radial nerve lesion oboInOwl:hasDbXref ICD10CM:G56.3 semapv:UnspecifiedMatching DOID:12170 radial nerve lesion oboInOwl:hasDbXref ICD9CM:354.3 semapv:UnspecifiedMatching -DOID:12171 radial neuropathy oboInOwl:hasDbXref MESH:D020425 semapv:UnspecifiedMatching +DOID:12170 radial nerve lesion oboInOwl:hasDbXref ICD10CM:G56.3 semapv:UnspecifiedMatching +DOID:12170 radial nerve lesion oboInOwl:hasDbXref UMLS_CUI:C0154744 semapv:UnspecifiedMatching DOID:12171 radial neuropathy oboInOwl:hasDbXref UMLS_CUI:C0748226 semapv:UnspecifiedMatching -DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref ICD10CM:E07.1 semapv:UnspecifiedMatching +DOID:12171 radial neuropathy oboInOwl:hasDbXref MESH:D020425 semapv:UnspecifiedMatching DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref ICD9CM:246.1 semapv:UnspecifiedMatching DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref UMLS_CUI:C0152077 semapv:UnspecifiedMatching -DOID:12176 goiter oboInOwl:hasDbXref ICD10CM:E04.9 semapv:UnspecifiedMatching +DOID:12175 dyshormonogenic goiter oboInOwl:hasDbXref ICD10CM:E07.1 semapv:UnspecifiedMatching +DOID:12176 goiter skos:exactMatch MESH:D006042 semapv:UnspecifiedMatching +DOID:12176 goiter oboInOwl:hasDbXref UMLS_CUI:C0018021 semapv:UnspecifiedMatching +DOID:12176 goiter oboInOwl:hasDbXref NCI:C26785 semapv:UnspecifiedMatching DOID:12176 goiter oboInOwl:hasDbXref ICD9CM:240.9 semapv:UnspecifiedMatching +DOID:12176 goiter oboInOwl:hasDbXref ICD10CM:E04.9 semapv:UnspecifiedMatching DOID:12176 goiter oboInOwl:hasDbXref MESH:D006042 semapv:UnspecifiedMatching -DOID:12176 goiter oboInOwl:hasDbXref NCI:C26785 semapv:UnspecifiedMatching -DOID:12176 goiter oboInOwl:hasDbXref UMLS_CUI:C0018021 semapv:UnspecifiedMatching -DOID:12176 goiter skos:exactMatch MESH:D006042 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ORDO:1572 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref UMLS_CUI:C0009447 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref OMIMPS:607594 semapv:UnspecifiedMatching +DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref GARD:6140 semapv:UnspecifiedMatching +DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD10CM:D83 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD9CM:279.06 semapv:UnspecifiedMatching DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref MESH:D017074 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ICD10CM:D83 semapv:UnspecifiedMatching -DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref GARD:6140 semapv:UnspecifiedMatching -DOID:12179 tinea corporis oboInOwl:hasDbXref ICD9CM:110.5 semapv:UnspecifiedMatching +DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref OMIMPS:607594 semapv:UnspecifiedMatching +DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref ORDO:1572 semapv:UnspecifiedMatching +DOID:12177 common variable immunodeficiency oboInOwl:hasDbXref UMLS_CUI:C0009447 semapv:UnspecifiedMatching DOID:12179 tinea corporis oboInOwl:hasDbXref UMLS_CUI:C0546826 semapv:UnspecifiedMatching +DOID:12179 tinea corporis oboInOwl:hasDbXref ICD9CM:110.5 semapv:UnspecifiedMatching DOID:1218 echinostomiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching DOID:1218 echinostomiasis oboInOwl:hasDbXref MESH:D004451 semapv:UnspecifiedMatching DOID:1218 echinostomiasis oboInOwl:hasDbXref UMLS_CUI:C0013514 semapv:UnspecifiedMatching -DOID:12185 otosclerosis skos:exactMatch MESH:D010040 semapv:UnspecifiedMatching +DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:611572 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref UMLS_CUI:C0029696 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ORDO:2794 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:615589 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:612096 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:611572 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:611571 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:608484 semapv:UnspecifiedMatching +DOID:12185 otosclerosis oboInOwl:hasDbXref ICD10CM:H80.80 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:608244 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:605727 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:166800 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref ICD9CM:387.8 semapv:UnspecifiedMatching -DOID:12185 otosclerosis oboInOwl:hasDbXref ICD10CM:H80.80 semapv:UnspecifiedMatching +DOID:12185 otosclerosis skos:exactMatch MESH:D010040 semapv:UnspecifiedMatching +DOID:12185 otosclerosis oboInOwl:hasDbXref OMIM:608484 semapv:UnspecifiedMatching DOID:12185 otosclerosis oboInOwl:hasDbXref EFO:0004213 semapv:UnspecifiedMatching +DOID:1219 dicrocoeliasis oboInOwl:hasDbXref UMLS_CUI:C0012102 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref ICD10CM:B66.2 semapv:UnspecifiedMatching DOID:1219 dicrocoeliasis oboInOwl:hasDbXref MESH:D004011 semapv:UnspecifiedMatching -DOID:1219 dicrocoeliasis oboInOwl:hasDbXref UMLS_CUI:C0012102 semapv:UnspecifiedMatching DOID:12190 descending colon cancer oboInOwl:hasDbXref ICD10CM:C18.6 semapv:UnspecifiedMatching DOID:12190 descending colon cancer oboInOwl:hasDbXref ICD9CM:153.2 semapv:UnspecifiedMatching DOID:12190 descending colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153435 semapv:UnspecifiedMatching -DOID:12191 splenic flexure cancer oboInOwl:hasDbXref UMLS_CUI:C0153440 semapv:UnspecifiedMatching -DOID:12191 splenic flexure cancer oboInOwl:hasDbXref ICD9CM:153.7 semapv:UnspecifiedMatching DOID:12191 splenic flexure cancer oboInOwl:hasDbXref ICD10CM:C18.5 semapv:UnspecifiedMatching +DOID:12191 splenic flexure cancer oboInOwl:hasDbXref ICD9CM:153.7 semapv:UnspecifiedMatching +DOID:12191 splenic flexure cancer oboInOwl:hasDbXref UMLS_CUI:C0153440 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref ICD10CM:C18.7 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref ICD9CM:153.3 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref MESH:D012811 semapv:UnspecifiedMatching DOID:12192 sigmoid colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153436 semapv:UnspecifiedMatching +DOID:12196 superficial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155074 semapv:UnspecifiedMatching DOID:12196 superficial keratitis oboInOwl:hasDbXref ICD10CM:H16.10 semapv:UnspecifiedMatching DOID:12196 superficial keratitis oboInOwl:hasDbXref ICD9CM:370.20 semapv:UnspecifiedMatching -DOID:12196 superficial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155074 semapv:UnspecifiedMatching DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.14 semapv:UnspecifiedMatching DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.21 semapv:UnspecifiedMatching DOID:12197 punctate epithelial keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0259799 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref UMLS_CUI:C0011311 semapv:UnspecifiedMatching -DOID:12205 dengue disease oboInOwl:hasDbXref NCI:C34528 semapv:UnspecifiedMatching -DOID:12205 dengue disease oboInOwl:hasDbXref MESH:D003715 semapv:UnspecifiedMatching -DOID:12205 dengue disease oboInOwl:hasDbXref ICD10CM:A90 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref GARD:6254 semapv:UnspecifiedMatching +DOID:12205 dengue disease oboInOwl:hasDbXref ICD10CM:A90 semapv:UnspecifiedMatching DOID:12205 dengue disease oboInOwl:hasDbXref ICD9CM:061 semapv:UnspecifiedMatching -DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A91 semapv:UnspecifiedMatching -DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref MESH:D019595 semapv:UnspecifiedMatching +DOID:12205 dengue disease oboInOwl:hasDbXref MESH:D003715 semapv:UnspecifiedMatching +DOID:12205 dengue disease oboInOwl:hasDbXref NCI:C34528 semapv:UnspecifiedMatching DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref NCI:C34683 semapv:UnspecifiedMatching DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0019100 semapv:UnspecifiedMatching -DOID:12211 filarial elephantiasis oboInOwl:hasDbXref MESH:D004605 semapv:UnspecifiedMatching +DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A91 semapv:UnspecifiedMatching +DOID:12206 dengue hemorrhagic fever oboInOwl:hasDbXref MESH:D019595 semapv:UnspecifiedMatching DOID:12211 filarial elephantiasis oboInOwl:hasDbXref NCI:C128360 semapv:UnspecifiedMatching DOID:12211 filarial elephantiasis oboInOwl:hasDbXref UMLS_CUI:C0013884 semapv:UnspecifiedMatching +DOID:12211 filarial elephantiasis oboInOwl:hasDbXref MESH:D004605 semapv:UnspecifiedMatching +DOID:12215 oligohydramnios oboInOwl:hasDbXref UMLS_CUI:C0079924 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref NCI:C92839 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref ICD10CM:O41.0 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref ICD9CM:658.0 semapv:UnspecifiedMatching DOID:12215 oligohydramnios oboInOwl:hasDbXref MESH:D016104 semapv:UnspecifiedMatching -DOID:12215 oligohydramnios oboInOwl:hasDbXref UMLS_CUI:C0079924 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref OMIM:127750 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref UMLS_CUI:C0752347 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref NCI:C84826 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD9CM:331.82 semapv:UnspecifiedMatching -DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD10CM:G31.83 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref GARD:3243 semapv:UnspecifiedMatching +DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD10CM:G31.83 semapv:UnspecifiedMatching +DOID:12217 Lewy body dementia oboInOwl:hasDbXref ICD9CM:331.82 semapv:UnspecifiedMatching DOID:12217 Lewy body dementia oboInOwl:hasDbXref MESH:D020961 semapv:UnspecifiedMatching +DOID:12217 Lewy body dementia oboInOwl:hasDbXref NCI:C84826 semapv:UnspecifiedMatching +DOID:12217 Lewy body dementia oboInOwl:hasDbXref OMIM:127750 semapv:UnspecifiedMatching +DOID:12217 Lewy body dementia oboInOwl:hasDbXref UMLS_CUI:C0752347 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref ICD10CM:M94.9 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref MESH:D002357 semapv:UnspecifiedMatching DOID:1222 cartilage disease oboInOwl:hasDbXref UMLS_CUI:C0007302 semapv:UnspecifiedMatching -DOID:12223 specific bursitis often of occupational origin oboInOwl:hasDbXref ICD9CM:727.2 semapv:UnspecifiedMatching DOID:12223 specific bursitis often of occupational origin oboInOwl:hasDbXref UMLS_CUI:C0158332 semapv:UnspecifiedMatching -DOID:12225 Plica syndrome oboInOwl:hasDbXref MESH:D013585 semapv:UnspecifiedMatching +DOID:12223 specific bursitis often of occupational origin oboInOwl:hasDbXref ICD9CM:727.2 semapv:UnspecifiedMatching DOID:12225 Plica syndrome oboInOwl:hasDbXref ICD10CM:M67.5 semapv:UnspecifiedMatching DOID:12225 Plica syndrome oboInOwl:hasDbXref ICD9CM:727.83 semapv:UnspecifiedMatching +DOID:12225 Plica syndrome oboInOwl:hasDbXref MESH:D013585 semapv:UnspecifiedMatching DOID:12225 Plica syndrome oboInOwl:hasDbXref UMLS_CUI:C0878705 semapv:UnspecifiedMatching +DOID:12234 cascade stomach oboInOwl:hasDbXref ICD10CM:K31.2 semapv:UnspecifiedMatching DOID:12234 cascade stomach oboInOwl:hasDbXref ICD9CM:537.6 semapv:UnspecifiedMatching DOID:12234 cascade stomach oboInOwl:hasDbXref UMLS_CUI:C0267183 semapv:UnspecifiedMatching -DOID:12234 cascade stomach oboInOwl:hasDbXref ICD10CM:K31.2 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C27167 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS_CUI:C0023892 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008312 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ORDO:186 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C51225 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref OMIMPS:109720 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C27167 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD10CM:K74.3 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD9CM:571.6 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref NCI:C51225 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref MESH:D008105 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008312 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD10CM:K74.5 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref GARD:7459 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD9CM:571.6 semapv:UnspecifiedMatching DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref EFO:0004267 semapv:UnspecifiedMatching -DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref MESH:D008105 semapv:UnspecifiedMatching -DOID:12237 bile reflux oboInOwl:hasDbXref UMLS_CUI:C0005403 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ORDO:186 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref GARD:7459 semapv:UnspecifiedMatching +DOID:12236 primary biliary cholangitis oboInOwl:hasDbXref ICD10CM:K74.3 semapv:UnspecifiedMatching DOID:12237 bile reflux oboInOwl:hasDbXref MESH:D001655 semapv:UnspecifiedMatching -DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412037 semapv:UnspecifiedMatching +DOID:12237 bile reflux oboInOwl:hasDbXref UMLS_CUI:C0005403 semapv:UnspecifiedMatching DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref ICD10CM:C44.520 semapv:UnspecifiedMatching DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref NCI:C6925 semapv:UnspecifiedMatching +DOID:12239 anal margin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412037 semapv:UnspecifiedMatching DOID:12241 beta thalassemia skos:narrowMatch MESH:D017086 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref UMLS_CUI:C0005283 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia oboInOwl:hasDbXref ORDO:848 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref OMIM:613985 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD10CM:D56.1 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching +DOID:12241 beta thalassemia oboInOwl:hasDbXref NCI:C34375 semapv:UnspecifiedMatching +DOID:12241 beta thalassemia oboInOwl:hasDbXref ORDO:848 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD9CM:282.44 semapv:UnspecifiedMatching +DOID:12241 beta thalassemia oboInOwl:hasDbXref ICD10CM:D56.1 semapv:UnspecifiedMatching DOID:12241 beta thalassemia oboInOwl:hasDbXref GARD:871 semapv:UnspecifiedMatching -DOID:12241 beta thalassemia oboInOwl:hasDbXref NCI:C34375 semapv:UnspecifiedMatching +DOID:12241 beta thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref ICD9CM:115.91 semapv:UnspecifiedMatching DOID:12246 histoplasmosis meningitis oboInOwl:hasDbXref UMLS_CUI:C0153277 semapv:UnspecifiedMatching DOID:12253 testicular lymphoma oboInOwl:hasDbXref NCI:C6810 semapv:UnspecifiedMatching DOID:12253 testicular lymphoma oboInOwl:hasDbXref UMLS_CUI:C0349644 semapv:UnspecifiedMatching -DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref ICD9CM:255.6 semapv:UnspecifiedMatching DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref UMLS_CUI:C0154206 semapv:UnspecifiedMatching +DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref ICD9CM:255.6 semapv:UnspecifiedMatching DOID:12257 medulloadrenal hyperfunction oboInOwl:hasDbXref ICD10CM:E27.5 semapv:UnspecifiedMatching +DOID:12259 hemophilia B oboInOwl:hasDbXref UMLS_CUI:C0008533 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref GARD:8732 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref ICD10CM:D67 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref ICD9CM:286.1 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref MESH:D002836 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref NCI:C26721 semapv:UnspecifiedMatching DOID:12259 hemophilia B oboInOwl:hasDbXref OMIM:306900 semapv:UnspecifiedMatching -DOID:12259 hemophilia B oboInOwl:hasDbXref UMLS_CUI:C0008533 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref UMLS_CUI:C0156328 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref ICD10CM:N70.1 semapv:UnspecifiedMatching DOID:12265 chronic salpingo-oophoritis oboInOwl:hasDbXref ICD9CM:614.1 semapv:UnspecifiedMatching -DOID:1227 neutropenia oboInOwl:hasDbXref UMLS_CUI:C0027947 semapv:UnspecifiedMatching -DOID:1227 neutropenia oboInOwl:hasDbXref MESH:D009503 semapv:UnspecifiedMatching DOID:1227 neutropenia oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching DOID:1227 neutropenia oboInOwl:hasDbXref ICD9CM:288.0 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref UMLS_CUI:C0009363 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref OMIM:216820 semapv:UnspecifiedMatching +DOID:1227 neutropenia oboInOwl:hasDbXref MESH:D009503 semapv:UnspecifiedMatching +DOID:1227 neutropenia oboInOwl:hasDbXref UMLS_CUI:C0027947 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ORDO:98945 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ORDO:194 semapv:UnspecifiedMatching +DOID:12270 coloboma oboInOwl:hasDbXref OMIM:216820 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref OMIM:120300 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref GARD:1433 semapv:UnspecifiedMatching +DOID:12270 coloboma oboInOwl:hasDbXref UMLS_CUI:C0009363 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref NCI:C98877 semapv:UnspecifiedMatching +DOID:12270 coloboma oboInOwl:hasDbXref MESH:D003103 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref ICD10CM:Q13.0 semapv:UnspecifiedMatching +DOID:12270 coloboma oboInOwl:hasDbXref GARD:1433 semapv:UnspecifiedMatching DOID:12270 coloboma oboInOwl:hasDbXref OMIM:120200 semapv:UnspecifiedMatching -DOID:12270 coloboma oboInOwl:hasDbXref MESH:D003103 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref GARD:5816 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref ICD10CM:Q13.1 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref ICD9CM:743.45 semapv:UnspecifiedMatching +DOID:12271 aniridia oboInOwl:hasDbXref UMLS_CUI:C0003076 semapv:UnspecifiedMatching +DOID:12271 aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref MESH:D015783 semapv:UnspecifiedMatching DOID:12271 aniridia oboInOwl:hasDbXref NCI:C84563 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching -DOID:12271 aniridia oboInOwl:hasDbXref UMLS_CUI:C0003076 semapv:UnspecifiedMatching +DOID:12271 aniridia oboInOwl:hasDbXref ICD10CM:Q13.1 semapv:UnspecifiedMatching +DOID:12271 aniridia oboInOwl:hasDbXref GARD:5816 semapv:UnspecifiedMatching +DOID:12271 aniridia oboInOwl:hasDbXref ICD9CM:743.45 semapv:UnspecifiedMatching +DOID:12273 anisometropia oboInOwl:hasDbXref ICD10CM:H52.31 semapv:UnspecifiedMatching +DOID:12273 anisometropia oboInOwl:hasDbXref ICD9CM:367.31 semapv:UnspecifiedMatching +DOID:12273 anisometropia oboInOwl:hasDbXref MESH:D015858 semapv:UnspecifiedMatching DOID:12273 anisometropia oboInOwl:hasDbXref UMLS_CUI:C0003081 semapv:UnspecifiedMatching DOID:12273 anisometropia skos:exactMatch MESH:D015858 semapv:UnspecifiedMatching -DOID:12273 anisometropia oboInOwl:hasDbXref MESH:D015858 semapv:UnspecifiedMatching -DOID:12273 anisometropia oboInOwl:hasDbXref ICD9CM:367.31 semapv:UnspecifiedMatching -DOID:12273 anisometropia oboInOwl:hasDbXref ICD10CM:H52.31 semapv:UnspecifiedMatching +DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref UMLS_CUI:C0012555 semapv:UnspecifiedMatching +DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref NCI:C34544 semapv:UnspecifiedMatching DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref ICD10CM:A36.3 semapv:UnspecifiedMatching DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref ICD9CM:032.85 semapv:UnspecifiedMatching -DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref NCI:C34544 semapv:UnspecifiedMatching -DOID:12275 cutaneous diphtheria oboInOwl:hasDbXref UMLS_CUI:C0012555 semapv:UnspecifiedMatching DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref ICD10CM:C62.0 semapv:UnspecifiedMatching DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref ICD9CM:186.0 semapv:UnspecifiedMatching DOID:12276 malignant tumor of undescended testis oboInOwl:hasDbXref UMLS_CUI:C0153595 semapv:UnspecifiedMatching DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref ICD10CM:I80.1 semapv:UnspecifiedMatching DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.11 semapv:UnspecifiedMatching DOID:12282 femoral vein thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0265066 semapv:UnspecifiedMatching -DOID:12286 testicular leukemia oboInOwl:hasDbXref UMLS_CUI:C1336711 semapv:UnspecifiedMatching DOID:12286 testicular leukemia oboInOwl:hasDbXref NCI:C9277 semapv:UnspecifiedMatching -DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.0 semapv:UnspecifiedMatching -DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD9CM:065.0 semapv:UnspecifiedMatching -DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref MESH:D006479 semapv:UnspecifiedMatching +DOID:12286 testicular leukemia oboInOwl:hasDbXref UMLS_CUI:C1336711 semapv:UnspecifiedMatching DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref NCI:C34682 semapv:UnspecifiedMatching DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0019099 semapv:UnspecifiedMatching +DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref MESH:D006479 semapv:UnspecifiedMatching +DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD9CM:065.0 semapv:UnspecifiedMatching +DOID:12287 Crimean-Congo hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.0 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref ICD10CM:F20.0 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref ICD9CM:295.3 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref ICD9CM:295.32 semapv:UnspecifiedMatching @@ -15649,25 +15675,25 @@ DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref MESH:D012563 semapv:Unspecif DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref NCI:C35006 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0036349 semapv:UnspecifiedMatching DOID:1229 paranoid schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0270398 semapv:UnspecifiedMatching -DOID:12294 atypical depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0154437 semapv:UnspecifiedMatching DOID:12294 atypical depressive disorder oboInOwl:hasDbXref ICD10CM:F32.89 semapv:UnspecifiedMatching DOID:12294 atypical depressive disorder oboInOwl:hasDbXref ICD9CM:296.82 semapv:UnspecifiedMatching -DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref GARD:7862 semapv:UnspecifiedMatching -DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10CM:H20.82 semapv:UnspecifiedMatching -DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD9CM:364.24 semapv:UnspecifiedMatching +DOID:12294 atypical depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0154437 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref MESH:D014607 semapv:UnspecifiedMatching +DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD9CM:364.24 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref NCI:C85218 semapv:UnspecifiedMatching +DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref GARD:7862 semapv:UnspecifiedMatching +DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref ICD10CM:H20.82 semapv:UnspecifiedMatching DOID:12297 Vogt-Koyanagi-Harada disease oboInOwl:hasDbXref UMLS_CUI:C0042170 semapv:UnspecifiedMatching DOID:12298 intrahepatic gall duct cancer oboInOwl:hasDbXref ICD9CM:155.1 semapv:UnspecifiedMatching DOID:12298 intrahepatic gall duct cancer oboInOwl:hasDbXref UMLS_CUI:C0546835 semapv:UnspecifiedMatching DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref ICD9CM:372.55 semapv:UnspecifiedMatching -DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref ICD10CM:H11.13 semapv:UnspecifiedMatching DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155163 semapv:UnspecifiedMatching +DOID:12304 conjunctival pigmentation oboInOwl:hasDbXref ICD10CM:H11.13 semapv:UnspecifiedMatching +DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref ICD10CM:Q82.3 semapv:UnspecifiedMatching +DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching +DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref NCI:C84787 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref OMIM:308300 semapv:UnspecifiedMatching DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref UMLS_CUI:C0021171 semapv:UnspecifiedMatching -DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref NCI:C84787 semapv:UnspecifiedMatching -DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref MESH:D007184 semapv:UnspecifiedMatching -DOID:12305 Bloch-Sulzberger syndrome oboInOwl:hasDbXref ICD10CM:Q82.3 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref EFO:0004208 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref GARD:10751 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref ICD10CM:L80 semapv:UnspecifiedMatching @@ -15676,28 +15702,28 @@ DOID:12306 vitiligo oboInOwl:hasDbXref MESH:D014820 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref NCI:C26915 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref OMIM:193200 semapv:UnspecifiedMatching DOID:12306 vitiligo oboInOwl:hasDbXref UMLS_CUI:C0042900 semapv:UnspecifiedMatching +DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155104 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.01 semapv:UnspecifiedMatching DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.11 semapv:UnspecifiedMatching -DOID:12307 anterior corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155104 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS_CUI:C0022350 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref NCI:C34741 semapv:UnspecifiedMatching -DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10CM:E80.6 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref GARD:6289 semapv:UnspecifiedMatching +DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref ICD10CM:E80.6 semapv:UnspecifiedMatching DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref MESH:D007566 semapv:UnspecifiedMatching +DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref NCI:C34741 semapv:UnspecifiedMatching +DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref OMIM:237500 semapv:UnspecifiedMatching +DOID:12308 Dubin-Johnson syndrome oboInOwl:hasDbXref UMLS_CUI:C0022350 semapv:UnspecifiedMatching +DOID:12309 urticaria pigmentosa skos:exactMatch MESH:D014582 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref MESH:D014582 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref NCI:C3433 semapv:UnspecifiedMatching DOID:12309 urticaria pigmentosa oboInOwl:hasDbXref UMLS_CUI:C0042111 semapv:UnspecifiedMatching -DOID:12309 urticaria pigmentosa skos:exactMatch MESH:D014582 semapv:UnspecifiedMatching -DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.06 semapv:UnspecifiedMatching DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.12 semapv:UnspecifiedMatching DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155105 semapv:UnspecifiedMatching -DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0018179 semapv:UnspecifiedMatching -DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching -DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref NCI:C34651 semapv:UnspecifiedMatching +DOID:12311 stromal corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.06 semapv:UnspecifiedMatching DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.53 semapv:UnspecifiedMatching DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.53 semapv:UnspecifiedMatching +DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching +DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref NCI:C34651 semapv:UnspecifiedMatching +DOID:12318 granular corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0018179 semapv:UnspecifiedMatching DOID:12323 cough variant asthma oboInOwl:hasDbXref ICD10CM:J45.991 semapv:UnspecifiedMatching DOID:12323 cough variant asthma oboInOwl:hasDbXref ICD9CM:493.82 semapv:UnspecifiedMatching DOID:12323 cough variant asthma oboInOwl:hasDbXref UMLS_CUI:C0694548 semapv:UnspecifiedMatching @@ -15706,60 +15732,60 @@ DOID:12325 kyphoscoliotic heart disease oboInOwl:hasDbXref ICD9CM:416.1 semapv:U DOID:12325 kyphoscoliotic heart disease oboInOwl:hasDbXref UMLS_CUI:C0152102 semapv:UnspecifiedMatching DOID:12326 chronic pulmonary heart disease oboInOwl:hasDbXref ICD9CM:416.8 semapv:UnspecifiedMatching DOID:12326 chronic pulmonary heart disease oboInOwl:hasDbXref UMLS_CUI:C0155673 semapv:UnspecifiedMatching +DOID:12328 marasmus oboInOwl:hasDbXref ICD9CM:261 semapv:UnspecifiedMatching DOID:12328 marasmus oboInOwl:hasDbXref UMLS_CUI:C0086588 semapv:UnspecifiedMatching DOID:12328 marasmus oboInOwl:hasDbXref ICD10CM:E41 semapv:UnspecifiedMatching -DOID:12328 marasmus oboInOwl:hasDbXref ICD9CM:261 semapv:UnspecifiedMatching DOID:12328 marasmus oboInOwl:hasDbXref MESH:D011502 semapv:UnspecifiedMatching -DOID:1233 transvestism oboInOwl:hasDbXref UMLS_CUI:C0040774 semapv:UnspecifiedMatching -DOID:1233 transvestism oboInOwl:hasDbXref NCI:C94359 semapv:UnspecifiedMatching -DOID:1233 transvestism oboInOwl:hasDbXref ICD9CM:302.3 semapv:UnspecifiedMatching DOID:1233 transvestism oboInOwl:hasDbXref ICD10CM:F64.1 semapv:UnspecifiedMatching +DOID:1233 transvestism oboInOwl:hasDbXref ICD9CM:302.3 semapv:UnspecifiedMatching DOID:1233 transvestism oboInOwl:hasDbXref MESH:D014190 semapv:UnspecifiedMatching +DOID:1233 transvestism oboInOwl:hasDbXref NCI:C94359 semapv:UnspecifiedMatching +DOID:1233 transvestism oboInOwl:hasDbXref UMLS_CUI:C0040774 semapv:UnspecifiedMatching DOID:12332 hematocele of tunica vaginalis testis oboInOwl:hasDbXref MESH:D006398 semapv:UnspecifiedMatching DOID:12332 hematocele of tunica vaginalis testis oboInOwl:hasDbXref UMLS_CUI:C0018931 semapv:UnspecifiedMatching DOID:12333 male genital organ stricture oboInOwl:hasDbXref ICD9CM:608.85 semapv:UnspecifiedMatching DOID:12333 male genital organ stricture oboInOwl:hasDbXref UMLS_CUI:C0156316 semapv:UnspecifiedMatching -DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042374 semapv:UnspecifiedMatching -DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref ICD10CM:N50.1 semapv:UnspecifiedMatching DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref ICD9CM:608.83 semapv:UnspecifiedMatching -DOID:12336 male infertility oboInOwl:hasDbXref MESH:D007248 semapv:UnspecifiedMatching +DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref ICD10CM:N50.1 semapv:UnspecifiedMatching +DOID:12335 male genital organ vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042374 semapv:UnspecifiedMatching DOID:12336 male infertility oboInOwl:hasDbXref UMLS_CUI:C0021364 semapv:UnspecifiedMatching -DOID:12336 male infertility oboInOwl:hasDbXref ICD10CM:N46 semapv:UnspecifiedMatching +DOID:12336 male infertility oboInOwl:hasDbXref MESH:D007248 semapv:UnspecifiedMatching DOID:12336 male infertility oboInOwl:hasDbXref ICD9CM:606 semapv:UnspecifiedMatching -DOID:12337 varicocele oboInOwl:hasDbXref UMLS_CUI:C0042341 semapv:UnspecifiedMatching -DOID:12337 varicocele oboInOwl:hasDbXref MESH:D014646 semapv:UnspecifiedMatching -DOID:12337 varicocele oboInOwl:hasDbXref ICD9CM:456.4 semapv:UnspecifiedMatching +DOID:12336 male infertility oboInOwl:hasDbXref ICD10CM:N46 semapv:UnspecifiedMatching DOID:12337 varicocele oboInOwl:hasDbXref ICD10CM:I86.1 semapv:UnspecifiedMatching +DOID:12337 varicocele oboInOwl:hasDbXref ICD9CM:456.4 semapv:UnspecifiedMatching +DOID:12337 varicocele oboInOwl:hasDbXref MESH:D014646 semapv:UnspecifiedMatching +DOID:12337 varicocele oboInOwl:hasDbXref UMLS_CUI:C0042341 semapv:UnspecifiedMatching DOID:12339 retroperitoneal lymphoma oboInOwl:hasDbXref NCI:C7353 semapv:UnspecifiedMatching DOID:12339 retroperitoneal lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335779 semapv:UnspecifiedMatching -DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS_CUI:C0040630 semapv:UnspecifiedMatching -DOID:1234 gender incongruence oboInOwl:hasDbXref ICD9CM:302.6 semapv:UnspecifiedMatching -DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS_CUI:C0236802 semapv:UnspecifiedMatching DOID:1234 gender incongruence oboInOwl:hasDbXref ICD10CM:F64.2 semapv:UnspecifiedMatching DOID:1234 gender incongruence oboInOwl:hasDbXref ICD9CM:302.50 semapv:UnspecifiedMatching +DOID:1234 gender incongruence oboInOwl:hasDbXref ICD9CM:302.6 semapv:UnspecifiedMatching +DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS_CUI:C0040630 semapv:UnspecifiedMatching +DOID:1234 gender incongruence oboInOwl:hasDbXref UMLS_CUI:C0236802 semapv:UnspecifiedMatching DOID:12341 retroperitoneal sarcoma oboInOwl:hasDbXref NCI:C4832 semapv:UnspecifiedMatching DOID:12341 retroperitoneal sarcoma oboInOwl:hasDbXref UMLS_CUI:C0585129 semapv:UnspecifiedMatching -DOID:12342 retroperitoneum carcinoma oboInOwl:hasDbXref NCI:C7352 semapv:UnspecifiedMatching DOID:12342 retroperitoneum carcinoma oboInOwl:hasDbXref UMLS_CUI:C0948749 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref OMIMPS:166200 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref UMLS_CUI:C0029434 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ORDO:666 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref NCI:C26837 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD9CM:756.51 semapv:UnspecifiedMatching -DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching +DOID:12342 retroperitoneum carcinoma oboInOwl:hasDbXref NCI:C7352 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref GARD:1017 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD10CM:Q78.0 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ICD9CM:756.51 semapv:UnspecifiedMatching DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref MESH:D010013 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref NCI:C26837 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref OMIMPS:166200 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref ORDO:666 semapv:UnspecifiedMatching +DOID:12347 osteogenesis imperfecta oboInOwl:hasDbXref UMLS_CUI:C0029434 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref ICD10CM:H44.44 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref ICD9CM:360.31 semapv:UnspecifiedMatching DOID:12349 primary eye hypotony oboInOwl:hasDbXref UMLS_CUI:C0154782 semapv:UnspecifiedMatching -DOID:1235 fetishism oboInOwl:hasDbXref ICD10CM:F65.0 semapv:UnspecifiedMatching -DOID:1235 fetishism oboInOwl:hasDbXref ICD9CM:302.81 semapv:UnspecifiedMatching -DOID:1235 fetishism oboInOwl:hasDbXref MESH:D005329 semapv:UnspecifiedMatching -DOID:1235 fetishism oboInOwl:hasDbXref NCI:C94353 semapv:UnspecifiedMatching DOID:1235 fetishism oboInOwl:hasDbXref UMLS_CUI:C0015957 semapv:UnspecifiedMatching -DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref UMLS_CUI:C0001306 semapv:UnspecifiedMatching -DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref NCI:C34352 semapv:UnspecifiedMatching +DOID:1235 fetishism oboInOwl:hasDbXref NCI:C94353 semapv:UnspecifiedMatching +DOID:1235 fetishism oboInOwl:hasDbXref MESH:D005329 semapv:UnspecifiedMatching +DOID:1235 fetishism oboInOwl:hasDbXref ICD9CM:302.81 semapv:UnspecifiedMatching +DOID:1235 fetishism oboInOwl:hasDbXref ICD10CM:F65.0 semapv:UnspecifiedMatching DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref ICD9CM:571.1 semapv:UnspecifiedMatching +DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref NCI:C34352 semapv:UnspecifiedMatching +DOID:12351 alcoholic hepatitis oboInOwl:hasDbXref UMLS_CUI:C0001306 semapv:UnspecifiedMatching DOID:12355 prostatocystitis oboInOwl:hasDbXref ICD10CM:N41.3 semapv:UnspecifiedMatching DOID:12355 prostatocystitis oboInOwl:hasDbXref ICD9CM:601.3 semapv:UnspecifiedMatching DOID:12355 prostatocystitis oboInOwl:hasDbXref UMLS_CUI:C0156291 semapv:UnspecifiedMatching @@ -15769,11 +15795,11 @@ DOID:12358 patulous eustachian tube oboInOwl:hasDbXref GARD:10812 semapv:Unspeci DOID:12358 patulous eustachian tube oboInOwl:hasDbXref ICD10CM:H69.0 semapv:UnspecifiedMatching DOID:12358 patulous eustachian tube oboInOwl:hasDbXref ICD9CM:381.7 semapv:UnspecifiedMatching DOID:12358 patulous eustachian tube oboInOwl:hasDbXref UMLS_CUI:C0155434 semapv:UnspecifiedMatching -DOID:12359 endocrine exophthalmos oboInOwl:hasDbXref ICD9CM:376.2 semapv:UnspecifiedMatching DOID:12359 endocrine exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155264 semapv:UnspecifiedMatching +DOID:12359 endocrine exophthalmos oboInOwl:hasDbXref ICD9CM:376.2 semapv:UnspecifiedMatching +DOID:12360 lateral displacement of eye oboInOwl:hasDbXref ICD10CM:H05.21 semapv:UnspecifiedMatching DOID:12360 lateral displacement of eye oboInOwl:hasDbXref ICD9CM:376.36 semapv:UnspecifiedMatching DOID:12360 lateral displacement of eye oboInOwl:hasDbXref UMLS_CUI:C0155272 semapv:UnspecifiedMatching -DOID:12360 lateral displacement of eye oboInOwl:hasDbXref ICD10CM:H05.21 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref EFO:0004237 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref ICD10CM:E05.0 semapv:UnspecifiedMatching DOID:12361 Graves' disease oboInOwl:hasDbXref MESH:D006111 semapv:UnspecifiedMatching @@ -15784,107 +15810,107 @@ DOID:12362 thyrotoxic exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155265 semapv:U DOID:12363 intermittent proptosis oboInOwl:hasDbXref ICD10CM:H05.25 semapv:UnspecifiedMatching DOID:12363 intermittent proptosis oboInOwl:hasDbXref ICD9CM:376.34 semapv:UnspecifiedMatching DOID:12363 intermittent proptosis oboInOwl:hasDbXref UMLS_CUI:C0155270 semapv:UnspecifiedMatching +DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155271 semapv:UnspecifiedMatching DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref ICD9CM:376.35 semapv:UnspecifiedMatching DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref ICD10CM:H05.26 semapv:UnspecifiedMatching -DOID:12364 pulsating exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155271 semapv:UnspecifiedMatching -DOID:12365 malaria oboInOwl:hasDbXref NCI:C34797 semapv:UnspecifiedMatching -DOID:12365 malaria oboInOwl:hasDbXref UMLS_CUI:C0024530 semapv:UnspecifiedMatching +DOID:12365 malaria oboInOwl:hasDbXref EFO:0001068 semapv:UnspecifiedMatching +DOID:12365 malaria oboInOwl:hasDbXref GARD:6961 semapv:UnspecifiedMatching +DOID:12365 malaria oboInOwl:hasDbXref ICD10CM:B54 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref ICD9CM:084 semapv:UnspecifiedMatching DOID:12365 malaria oboInOwl:hasDbXref MESH:D008288 semapv:UnspecifiedMatching -DOID:12365 malaria oboInOwl:hasDbXref ICD10CM:B54 semapv:UnspecifiedMatching -DOID:12365 malaria oboInOwl:hasDbXref GARD:6961 semapv:UnspecifiedMatching -DOID:12365 malaria oboInOwl:hasDbXref EFO:0001068 semapv:UnspecifiedMatching +DOID:12365 malaria oboInOwl:hasDbXref NCI:C34797 semapv:UnspecifiedMatching +DOID:12365 malaria oboInOwl:hasDbXref UMLS_CUI:C0024530 semapv:UnspecifiedMatching DOID:12369 prolapse of urethra oboInOwl:hasDbXref ICD10CM:N81.0 semapv:UnspecifiedMatching DOID:12369 prolapse of urethra oboInOwl:hasDbXref ICD9CM:618.03 semapv:UnspecifiedMatching DOID:12369 prolapse of urethra oboInOwl:hasDbXref UMLS_CUI:C0238502 semapv:UnspecifiedMatching DOID:1237 corneal degeneration oboInOwl:hasDbXref ICD10CM:H18.4 semapv:UnspecifiedMatching DOID:1237 corneal degeneration oboInOwl:hasDbXref ICD9CM:371.4 semapv:UnspecifiedMatching DOID:1237 corneal degeneration oboInOwl:hasDbXref UMLS_CUI:C0155118 semapv:UnspecifiedMatching -DOID:12375 bronchopneumonia oboInOwl:hasDbXref ICD10CM:J18.0 semapv:UnspecifiedMatching +DOID:12375 bronchopneumonia oboInOwl:hasDbXref UMLS_CUI:C0006285 semapv:UnspecifiedMatching +DOID:12375 bronchopneumonia oboInOwl:hasDbXref NCI:C26710 semapv:UnspecifiedMatching DOID:12375 bronchopneumonia oboInOwl:hasDbXref ICD9CM:485 semapv:UnspecifiedMatching +DOID:12375 bronchopneumonia oboInOwl:hasDbXref ICD10CM:J18.0 semapv:UnspecifiedMatching DOID:12375 bronchopneumonia oboInOwl:hasDbXref MESH:D001996 semapv:UnspecifiedMatching -DOID:12375 bronchopneumonia oboInOwl:hasDbXref NCI:C26710 semapv:UnspecifiedMatching -DOID:12375 bronchopneumonia oboInOwl:hasDbXref UMLS_CUI:C0006285 semapv:UnspecifiedMatching -DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching -DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref NCI:C118847 semapv:UnspecifiedMatching -DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0152109 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref ICD9CM:335.11 semapv:UnspecifiedMatching DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching +DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref NCI:C118847 semapv:UnspecifiedMatching +DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref OMIM:253400 semapv:UnspecifiedMatching +DOID:12376 juvenile spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0152109 semapv:UnspecifiedMatching +DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0026847 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref GARD:7674 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref ICD10CM:G12.9 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref ICD9CM:335.1 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref MESH:D009134 semapv:UnspecifiedMatching DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref NCI:C85075 semapv:UnspecifiedMatching -DOID:12377 spinal muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0026847 semapv:UnspecifiedMatching -DOID:12382 complex partial epilepsy oboInOwl:hasDbXref MESH:D017029 semapv:UnspecifiedMatching DOID:12382 complex partial epilepsy oboInOwl:hasDbXref UMLS_CUI:C0085417 semapv:UnspecifiedMatching -DOID:12384 dysentery oboInOwl:hasDbXref UMLS_CUI:C0013369 semapv:UnspecifiedMatching +DOID:12382 complex partial epilepsy oboInOwl:hasDbXref MESH:D017029 semapv:UnspecifiedMatching DOID:12384 dysentery oboInOwl:hasDbXref ICD9CM:009.2 semapv:UnspecifiedMatching DOID:12384 dysentery oboInOwl:hasDbXref MESH:D004403 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref KEGG:05131 semapv:UnspecifiedMatching +DOID:12384 dysentery oboInOwl:hasDbXref UMLS_CUI:C0013369 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0302360 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0302359 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0302358 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref UMLS_CUI:C0013371 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref NCI:C157978 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref MESH:D004405 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref KEGG:05131 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD9CM:004.2 semapv:UnspecifiedMatching -DOID:12385 shigellosis oboInOwl:hasDbXref GARD:4818 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref NCI:C157978 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD9CM:004.0 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD9CM:004 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD10CM:A03.2 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD10CM:A03.1 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD10CM:A03.0 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD10CM:A03 semapv:UnspecifiedMatching +DOID:12385 shigellosis oboInOwl:hasDbXref GARD:4818 semapv:UnspecifiedMatching DOID:12385 shigellosis oboInOwl:hasDbXref ICD9CM:004.1 semapv:UnspecifiedMatching DOID:12386 balantidiasis skos:exactMatch MESH:D001447 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref UMLS_CUI:C0004692 semapv:UnspecifiedMatching -DOID:12386 balantidiasis oboInOwl:hasDbXref MESH:D001447 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref NCI:C84583 semapv:UnspecifiedMatching -DOID:12386 balantidiasis oboInOwl:hasDbXref ICD10CM:A07.0 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref GARD:809 semapv:UnspecifiedMatching DOID:12386 balantidiasis oboInOwl:hasDbXref ICD9CM:007.0 semapv:UnspecifiedMatching -DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref GARD:7178 semapv:UnspecifiedMatching -DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10CM:N25.1 semapv:UnspecifiedMatching -DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD9CM:588.1 semapv:UnspecifiedMatching -DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching -DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref NCI:C84919 semapv:UnspecifiedMatching +DOID:12386 balantidiasis oboInOwl:hasDbXref ICD10CM:A07.0 semapv:UnspecifiedMatching +DOID:12386 balantidiasis oboInOwl:hasDbXref MESH:D001447 semapv:UnspecifiedMatching DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ORDO:223 semapv:UnspecifiedMatching DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0162283 semapv:UnspecifiedMatching -DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching -DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0687720 semapv:UnspecifiedMatching -DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching +DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref NCI:C84919 semapv:UnspecifiedMatching +DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching +DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD9CM:588.1 semapv:UnspecifiedMatching +DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10CM:N25.1 semapv:UnspecifiedMatching +DOID:12387 nephrogenic diabetes insipidus oboInOwl:hasDbXref GARD:7178 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref NCI:C84933 semapv:UnspecifiedMatching +DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching +DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref ORDO:30925 semapv:UnspecifiedMatching +DOID:12388 neurohypophyseal diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0687720 semapv:UnspecifiedMatching DOID:12395 spastic entropion oboInOwl:hasDbXref ICD9CM:374.03 semapv:UnspecifiedMatching DOID:12395 spastic entropion oboInOwl:hasDbXref UMLS_CUI:C0155190 semapv:UnspecifiedMatching DOID:12397 entropion oboInOwl:hasDbXref ICD9CM:374.00 semapv:UnspecifiedMatching DOID:12397 entropion oboInOwl:hasDbXref MESH:D004774 semapv:UnspecifiedMatching DOID:12397 entropion oboInOwl:hasDbXref UMLS_CUI:C0014390 semapv:UnspecifiedMatching -DOID:12399 pathological gambling oboInOwl:hasDbXref ICD10CM:F63.0 semapv:UnspecifiedMatching +DOID:12399 pathological gambling oboInOwl:hasDbXref UMLS_CUI:C0030662 semapv:UnspecifiedMatching +DOID:12399 pathological gambling oboInOwl:hasDbXref OMIM:606349 semapv:UnspecifiedMatching +DOID:12399 pathological gambling oboInOwl:hasDbXref NCI:C94335 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref ICD9CM:312.31 semapv:UnspecifiedMatching +DOID:12399 pathological gambling oboInOwl:hasDbXref ICD10CM:F63.0 semapv:UnspecifiedMatching DOID:12399 pathological gambling oboInOwl:hasDbXref MESH:D005715 semapv:UnspecifiedMatching -DOID:12399 pathological gambling oboInOwl:hasDbXref NCI:C94335 semapv:UnspecifiedMatching -DOID:12399 pathological gambling oboInOwl:hasDbXref OMIM:606349 semapv:UnspecifiedMatching -DOID:12399 pathological gambling oboInOwl:hasDbXref UMLS_CUI:C0030662 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref UMLS_CUI:C0023418 semapv:UnspecifiedMatching -DOID:1240 leukemia oboInOwl:hasDbXref NCI:C3161 semapv:UnspecifiedMatching -DOID:1240 leukemia oboInOwl:hasDbXref MESH:D007938 semapv:UnspecifiedMatching +DOID:1240 leukemia oboInOwl:hasDbXref ICD10CM:C95.90 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICD9CM:208 semapv:UnspecifiedMatching DOID:1240 leukemia oboInOwl:hasDbXref ICDO:9800/3 semapv:UnspecifiedMatching -DOID:1240 leukemia oboInOwl:hasDbXref ICD10CM:C95.90 semapv:UnspecifiedMatching +DOID:1240 leukemia oboInOwl:hasDbXref MESH:D007938 semapv:UnspecifiedMatching +DOID:1240 leukemia oboInOwl:hasDbXref NCI:C3161 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref ICD10CM:F63.2 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref ICD9CM:312.32 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref NCI:C94333 semapv:UnspecifiedMatching DOID:12400 kleptomania oboInOwl:hasDbXref UMLS_CUI:C0022734 semapv:UnspecifiedMatching -DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS_CUI:C0152183 semapv:UnspecifiedMatching -DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref NCI:C94332 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS_CUI:C0021776 semapv:UnspecifiedMatching +DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref NCI:C94332 semapv:UnspecifiedMatching +DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref UMLS_CUI:C0152183 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref MESH:D007174 semapv:UnspecifiedMatching +DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD10CM:F60.3 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD9CM:301.3 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD10CM:F63.81 semapv:UnspecifiedMatching -DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD10CM:F60.3 semapv:UnspecifiedMatching DOID:12401 intermittent explosive disorder oboInOwl:hasDbXref ICD9CM:312.34 semapv:UnspecifiedMatching DOID:12402 pyromania oboInOwl:hasDbXref ICD10CM:F63.1 semapv:UnspecifiedMatching DOID:12402 pyromania oboInOwl:hasDbXref ICD9CM:312.33 semapv:UnspecifiedMatching @@ -15896,8 +15922,8 @@ DOID:12403 tinea pedis oboInOwl:hasDbXref ICD9CM:110.4 semapv:UnspecifiedMatchin DOID:12403 tinea pedis oboInOwl:hasDbXref MESH:D014008 semapv:UnspecifiedMatching DOID:12403 tinea pedis oboInOwl:hasDbXref UMLS_CUI:C0040259 semapv:UnspecifiedMatching DOID:1241 luxation of globe oboInOwl:hasDbXref UMLS_CUI:C0154806 semapv:UnspecifiedMatching -DOID:1241 luxation of globe oboInOwl:hasDbXref ICD9CM:360.81 semapv:UnspecifiedMatching DOID:1241 luxation of globe oboInOwl:hasDbXref ICD10CM:H44.82 semapv:UnspecifiedMatching +DOID:1241 luxation of globe oboInOwl:hasDbXref ICD9CM:360.81 semapv:UnspecifiedMatching DOID:1242 globe disease oboInOwl:hasDbXref ICD10CM:H44.39 semapv:UnspecifiedMatching DOID:1242 globe disease oboInOwl:hasDbXref ICD9CM:360.29 semapv:UnspecifiedMatching DOID:1242 globe disease oboInOwl:hasDbXref UMLS_CUI:C0154780 semapv:UnspecifiedMatching @@ -15910,20 +15936,20 @@ DOID:1243 labia minora cancer oboInOwl:hasDbXref UMLS_CUI:C0496815 semapv:Unspec DOID:12445 conjugate gaze palsy oboInOwl:hasDbXref ICD9CM:378.81 semapv:UnspecifiedMatching DOID:12445 conjugate gaze palsy oboInOwl:hasDbXref UMLS_CUI:C0702143 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref NCI:C2870 semapv:UnspecifiedMatching -DOID:12449 aplastic anemia oboInOwl:hasDbXref MESH:D000741 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:UnspecifiedMatching +DOID:12449 aplastic anemia oboInOwl:hasDbXref MESH:D000741 semapv:UnspecifiedMatching +DOID:12449 aplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002874 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref ICD10CM:D61.9 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref GARD:5836 semapv:UnspecifiedMatching DOID:12449 aplastic anemia oboInOwl:hasDbXref ICD9CM:284.9 semapv:UnspecifiedMatching -DOID:12449 aplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002874 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref UMLS_CUI:C0375071 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref NCI:C7502 semapv:UnspecifiedMatching -DOID:1245 vulva cancer oboInOwl:hasDbXref NCI:C3443 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref UMLS_CUI:C0042995 semapv:UnspecifiedMatching -DOID:1245 vulva cancer oboInOwl:hasDbXref ICD9CM:184.4 semapv:UnspecifiedMatching +DOID:1245 vulva cancer oboInOwl:hasDbXref NCI:C3443 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref GARD:9349 semapv:UnspecifiedMatching -DOID:1245 vulva cancer oboInOwl:hasDbXref MESH:D014846 semapv:UnspecifiedMatching +DOID:1245 vulva cancer oboInOwl:hasDbXref ICD9CM:184.4 semapv:UnspecifiedMatching DOID:1245 vulva cancer oboInOwl:hasDbXref ICD10CM:C51 semapv:UnspecifiedMatching +DOID:1245 vulva cancer oboInOwl:hasDbXref MESH:D014846 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref ICD10CM:D61.81 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref ICD9CM:284.1 semapv:UnspecifiedMatching DOID:12450 pancytopenia oboInOwl:hasDbXref MESH:D010198 semapv:UnspecifiedMatching @@ -15935,8 +15961,8 @@ DOID:12451 sulfhemoglobinemia oboInOwl:hasDbXref UMLS_CUI:C0038732 semapv:Unspec DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref ICD10CM:N25.81 semapv:UnspecifiedMatching DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref ICD9CM:588.81 semapv:UnspecifiedMatching DOID:12465 secondary hyperparathyroidism of renal origin oboInOwl:hasDbXref UMLS_CUI:C0271847 semapv:UnspecifiedMatching -DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref NCI:C113335 semapv:UnspecifiedMatching DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020503 semapv:UnspecifiedMatching +DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref NCI:C113335 semapv:UnspecifiedMatching DOID:12466 secondary hyperparathyroidism oboInOwl:hasDbXref MESH:D006962 semapv:UnspecifiedMatching DOID:1247 blood coagulation disease oboInOwl:hasDbXref ICD10CM:D68.9 semapv:UnspecifiedMatching DOID:1247 blood coagulation disease oboInOwl:hasDbXref ICD9CM:286 semapv:UnspecifiedMatching @@ -15951,10 +15977,10 @@ DOID:12475 pes anserinus tendinitis or bursitis oboInOwl:hasDbXref ICD9CM:726.61 DOID:12475 pes anserinus tendinitis or bursitis oboInOwl:hasDbXref UMLS_CUI:C0158314 semapv:UnspecifiedMatching DOID:1248 ocular hyperemia oboInOwl:hasDbXref UMLS_CUI:C0155169 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152179 semapv:UnspecifiedMatching -DOID:12491 Vagus nerve disease oboInOwl:hasDbXref MESH:D020421 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref NCI:C27591 semapv:UnspecifiedMatching -DOID:12491 Vagus nerve disease oboInOwl:hasDbXref ICD10CM:G52.2 semapv:UnspecifiedMatching +DOID:12491 Vagus nerve disease oboInOwl:hasDbXref MESH:D020421 semapv:UnspecifiedMatching DOID:12491 Vagus nerve disease oboInOwl:hasDbXref ICD9CM:352.3 semapv:UnspecifiedMatching +DOID:12491 Vagus nerve disease oboInOwl:hasDbXref ICD10CM:G52.2 semapv:UnspecifiedMatching DOID:125 vagina leiomyoma oboInOwl:hasDbXref NCI:C6373 semapv:UnspecifiedMatching DOID:125 vagina leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336939 semapv:UnspecifiedMatching DOID:12506 Bell's palsy oboInOwl:hasDbXref GARD:5906 semapv:UnspecifiedMatching @@ -15967,8 +15993,8 @@ DOID:1251 tuberculous epididymitis oboInOwl:hasDbXref UMLS_CUI:C0152814 semapv:U DOID:12510 retinal ischemia oboInOwl:hasDbXref ICD10CM:H35.82 semapv:UnspecifiedMatching DOID:12510 retinal ischemia oboInOwl:hasDbXref ICD9CM:362.84 semapv:UnspecifiedMatching DOID:12510 retinal ischemia oboInOwl:hasDbXref UMLS_CUI:C0162291 semapv:UnspecifiedMatching -DOID:12514 retinal perforation oboInOwl:hasDbXref NCI:C50732 semapv:UnspecifiedMatching DOID:12514 retinal perforation oboInOwl:hasDbXref UMLS_CUI:C0035321 semapv:UnspecifiedMatching +DOID:12514 retinal perforation oboInOwl:hasDbXref NCI:C50732 semapv:UnspecifiedMatching DOID:12514 retinal perforation oboInOwl:hasDbXref MESH:D012167 semapv:UnspecifiedMatching DOID:1252 trichuriasis oboInOwl:hasDbXref GARD:10720 semapv:UnspecifiedMatching DOID:1252 trichuriasis oboInOwl:hasDbXref MESH:D014257 semapv:UnspecifiedMatching @@ -15982,11 +16008,11 @@ DOID:12522 bagassosis oboInOwl:hasDbXref UMLS_CUI:C0004681 semapv:UnspecifiedMat DOID:12524 plantar nerve lesion oboInOwl:hasDbXref ICD10CM:G57.6 semapv:UnspecifiedMatching DOID:12524 plantar nerve lesion oboInOwl:hasDbXref ICD9CM:355.6 semapv:UnspecifiedMatching DOID:12524 plantar nerve lesion oboInOwl:hasDbXref UMLS_CUI:C0154752 semapv:UnspecifiedMatching -DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref NCI:C85183 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref UMLS_CUI:C0039319 semapv:UnspecifiedMatching +DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref NCI:C85183 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref MESH:D013641 semapv:UnspecifiedMatching -DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref ICD9CM:355.5 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref ICD10CM:G57.5 semapv:UnspecifiedMatching +DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref ICD9CM:355.5 semapv:UnspecifiedMatching DOID:12526 tarsal tunnel syndrome oboInOwl:hasDbXref GARD:7733 semapv:UnspecifiedMatching DOID:12527 common peroneal nerve lesion oboInOwl:hasDbXref ICD10CM:G57.3 semapv:UnspecifiedMatching DOID:12527 common peroneal nerve lesion oboInOwl:hasDbXref ICD9CM:355.3 semapv:UnspecifiedMatching @@ -16020,37 +16046,37 @@ DOID:1255 trichostrongyloidiasis oboInOwl:hasDbXref MESH:D014252 semapv:Unspecif DOID:12550 hepatic coma oboInOwl:hasDbXref ICD10CM:K72.91 semapv:UnspecifiedMatching DOID:12550 hepatic coma oboInOwl:hasDbXref MESH:D006501 semapv:UnspecifiedMatching DOID:12550 hepatic coma oboInOwl:hasDbXref UMLS_CUI:C0019147 semapv:UnspecifiedMatching -DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref UMLS_CUI:C0019061 semapv:UnspecifiedMatching -DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref NCI:C75545 semapv:UnspecifiedMatching -DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref MESH:D006463 semapv:UnspecifiedMatching -DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ORDO:2134 semapv:UnspecifiedMatching -DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ICD10CM:D59.3 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref GARD:6588 semapv:UnspecifiedMatching +DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ICD10CM:D59.3 semapv:UnspecifiedMatching DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ICD9CM:283.11 semapv:UnspecifiedMatching -DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref ICD10CM:N17.0 semapv:UnspecifiedMatching -DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref MESH:D007683 semapv:UnspecifiedMatching -DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref NCI:C34749 semapv:UnspecifiedMatching +DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref MESH:D006463 semapv:UnspecifiedMatching +DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref NCI:C75545 semapv:UnspecifiedMatching +DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref ORDO:2134 semapv:UnspecifiedMatching +DOID:12554 hemolytic-uremic syndrome oboInOwl:hasDbXref UMLS_CUI:C0019061 semapv:UnspecifiedMatching DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref UMLS_CUI:C0022672 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref UMLS_CUI:C0013261 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ORDO:233 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:126800 semapv:UnspecifiedMatching +DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref NCI:C34749 semapv:UnspecifiedMatching +DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref MESH:D007683 semapv:UnspecifiedMatching +DOID:12556 acute kidney tubular necrosis oboInOwl:hasDbXref ICD10CM:N17.0 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ICD10CM:H50.81 semapv:UnspecifiedMatching -DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref MESH:D004370 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ICD9CM:378.71 semapv:UnspecifiedMatching +DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref MESH:D004370 semapv:UnspecifiedMatching DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref NCI:C84678 semapv:UnspecifiedMatching +DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:126800 semapv:UnspecifiedMatching +DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref OMIM:604356 semapv:UnspecifiedMatching +DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref ORDO:233 semapv:UnspecifiedMatching +DOID:12557 Duane retraction syndrome oboInOwl:hasDbXref UMLS_CUI:C0013261 semapv:UnspecifiedMatching +DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref OMIMPS:157640 semapv:UnspecifiedMatching +DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref MESH:D017246 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0162674 semapv:UnspecifiedMatching -DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref GARD:4503 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10CM:H49.4 semapv:UnspecifiedMatching +DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref GARD:4503 semapv:UnspecifiedMatching DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.72 semapv:UnspecifiedMatching -DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref MESH:D017246 semapv:UnspecifiedMatching -DOID:12558 chronic progressive external ophthalmoplegia oboInOwl:hasDbXref OMIMPS:157640 semapv:UnspecifiedMatching -DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS_CUI:C0158447 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref OMIM:259750 semapv:UnspecifiedMatching +DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref UMLS_CUI:C0158447 semapv:UnspecifiedMatching DOID:12559 idiopathic juvenile osteoporosis oboInOwl:hasDbXref ICD9CM:733.02 semapv:UnspecifiedMatching -DOID:12566 ulceration of vulva oboInOwl:hasDbXref UMLS_CUI:C0156340 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref ICD10CM:N77.0 semapv:UnspecifiedMatching DOID:12566 ulceration of vulva oboInOwl:hasDbXref ICD9CM:616.51 semapv:UnspecifiedMatching +DOID:12566 ulceration of vulva oboInOwl:hasDbXref UMLS_CUI:C0156340 semapv:UnspecifiedMatching DOID:12568 dyscalculia oboInOwl:hasDbXref MESH:D060705 semapv:UnspecifiedMatching DOID:12570 phacolytic glaucoma oboInOwl:hasDbXref ICD9CM:365.51 semapv:UnspecifiedMatching DOID:12570 phacolytic glaucoma oboInOwl:hasDbXref UMLS_CUI:C0152137 semapv:UnspecifiedMatching @@ -16060,17 +16086,17 @@ DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref ICD10CM:P72.1 semapv:Unspe DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref ICD9CM:775.3 semapv:UnspecifiedMatching DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref NCI:C114906 semapv:UnspecifiedMatching DOID:12573 neonatal thyrotoxicosis oboInOwl:hasDbXref UMLS_CUI:C0158983 semapv:UnspecifiedMatching +DOID:12574 posterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0042167 semapv:UnspecifiedMatching +DOID:12574 posterior uveitis oboInOwl:hasDbXref NCI:C35111 semapv:UnspecifiedMatching DOID:12574 posterior uveitis oboInOwl:hasDbXref GARD:4457 semapv:UnspecifiedMatching DOID:12574 posterior uveitis oboInOwl:hasDbXref MESH:D015866 semapv:UnspecifiedMatching -DOID:12574 posterior uveitis oboInOwl:hasDbXref NCI:C35111 semapv:UnspecifiedMatching -DOID:12574 posterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0042167 semapv:UnspecifiedMatching -DOID:12577 urethral obstruction oboInOwl:hasDbXref UMLS_CUI:C0041972 semapv:UnspecifiedMatching DOID:12577 urethral obstruction oboInOwl:hasDbXref MESH:D014524 semapv:UnspecifiedMatching DOID:12577 urethral obstruction oboInOwl:hasDbXref NCI:C79804 semapv:UnspecifiedMatching +DOID:12577 urethral obstruction oboInOwl:hasDbXref UMLS_CUI:C0041972 semapv:UnspecifiedMatching +DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref GARD:6213 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref ICD10CM:Q93.4 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref ICD9CM:758.31 semapv:UnspecifiedMatching -DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref MESH:D003410 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref NCI:C34518 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref OMIM:123450 semapv:UnspecifiedMatching DOID:12580 Cri-Du-Chat syndrome oboInOwl:hasDbXref UMLS_CUI:C0010314 semapv:UnspecifiedMatching @@ -16079,19 +16105,19 @@ DOID:12581 olecranon bursitis oboInOwl:hasDbXref ICD9CM:726.33 semapv:Unspecifie DOID:12581 olecranon bursitis oboInOwl:hasDbXref UMLS_CUI:C0263962 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref UMLS_CUI:C0220704 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref OMIM:192430 semapv:UnspecifiedMatching -DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref ICD9CM:758.32 semapv:UnspecifiedMatching DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref ICD10CM:Q93.81 semapv:UnspecifiedMatching +DOID:12583 velocardiofacial syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref GARD:4462 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref ICD10CM:Q60.6 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref NCI:C40435 semapv:UnspecifiedMatching DOID:12594 Potter's syndrome oboInOwl:hasDbXref UMLS_CUI:C0178426 semapv:UnspecifiedMatching DOID:1260 parametritis oboInOwl:hasDbXref MESH:D010249 semapv:UnspecifiedMatching DOID:1260 parametritis oboInOwl:hasDbXref UMLS_CUI:C0030455 semapv:UnspecifiedMatching -DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS_CUI:C0085669 semapv:UnspecifiedMatching +DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS_CUI:C1378511 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref OMIM:308960 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref NCI:C9300 semapv:UnspecifiedMatching -DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS_CUI:C1378511 semapv:UnspecifiedMatching +DOID:12603 acute leukemia oboInOwl:hasDbXref UMLS_CUI:C0085669 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICD9CM:208.0 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICD10CM:C95.00 semapv:UnspecifiedMatching DOID:12603 acute leukemia oboInOwl:hasDbXref ICDO:9801/3 semapv:UnspecifiedMatching @@ -16099,15 +16125,15 @@ DOID:12637 perineocele oboInOwl:hasDbXref ICD10CM:N81.81 semapv:UnspecifiedMatch DOID:12637 perineocele oboInOwl:hasDbXref ICD9CM:618.05 semapv:UnspecifiedMatching DOID:12637 perineocele oboInOwl:hasDbXref UMLS_CUI:C1456251 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612525 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612017 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:610260 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:300711 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD10CM:Q40.0 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD9CM:750.5 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref MESH:D046248 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref NCI:C98952 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD9CM:750.5 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref ICD10CM:Q40.0 semapv:UnspecifiedMatching -DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref UMLS_CUI:C0700639 semapv:UnspecifiedMatching DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:179010 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:300711 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:610260 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref OMIM:612017 semapv:UnspecifiedMatching +DOID:12638 hypertrophic pyloric stenosis oboInOwl:hasDbXref UMLS_CUI:C0700639 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref UMLS_CUI:C0034194 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref NCI:C34966 semapv:UnspecifiedMatching DOID:12639 pyloric stenosis oboInOwl:hasDbXref MESH:D011707 semapv:UnspecifiedMatching @@ -16122,9 +16148,9 @@ DOID:12642 hiatus hernia oboInOwl:hasDbXref OMIM:142400 semapv:UnspecifiedMatchi DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS_CUI:C0267725 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS_CUI:C0376710 semapv:UnspecifiedMatching DOID:12642 hiatus hernia oboInOwl:hasDbXref UMLS_CUI:C3489393 semapv:UnspecifiedMatching -DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0001163 semapv:UnspecifiedMatching -DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref MESH:D000160 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref NCI:C27207 semapv:UnspecifiedMatching +DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref MESH:D000160 semapv:UnspecifiedMatching +DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0001163 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref ICD10CM:H93.3 semapv:UnspecifiedMatching DOID:12657 vestibulocochlear nerve disease oboInOwl:hasDbXref ICD9CM:388.5 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref GARD:701 semapv:UnspecifiedMatching @@ -16133,18 +16159,18 @@ DOID:12661 tooth ankylosis oboInOwl:hasDbXref ICD9CM:521.6 semapv:UnspecifiedMat DOID:12661 tooth ankylosis oboInOwl:hasDbXref MESH:D020254 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref OMIM:157950 semapv:UnspecifiedMatching DOID:12661 tooth ankylosis oboInOwl:hasDbXref UMLS_CUI:C0155930 semapv:UnspecifiedMatching +DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref UMLS_CUI:C0030409 semapv:UnspecifiedMatching +DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref NCI:C34891 semapv:UnspecifiedMatching +DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref GARD:7323 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref ICD10CM:B41 semapv:UnspecifiedMatching DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref ICD9CM:116.1 semapv:UnspecifiedMatching -DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref MESH:D010229 semapv:UnspecifiedMatching -DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref NCI:C34891 semapv:UnspecifiedMatching -DOID:12662 paracoccidioidomycosis oboInOwl:hasDbXref UMLS_CUI:C0030409 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref NCI:C34428 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref UMLS_CUI:C0005716 semapv:UnspecifiedMatching +DOID:12663 blastomycosis oboInOwl:hasDbXref MESH:D001759 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref ICD9CM:116.0 semapv:UnspecifiedMatching -DOID:12663 blastomycosis oboInOwl:hasDbXref GARD:5931 semapv:UnspecifiedMatching DOID:12663 blastomycosis oboInOwl:hasDbXref ICD10CM:B40 semapv:UnspecifiedMatching -DOID:12663 blastomycosis oboInOwl:hasDbXref MESH:D001759 semapv:UnspecifiedMatching +DOID:12663 blastomycosis oboInOwl:hasDbXref GARD:5931 semapv:UnspecifiedMatching DOID:12667 binocular vision disease oboInOwl:hasDbXref ICD10CM:H53.30 semapv:UnspecifiedMatching DOID:12667 binocular vision disease oboInOwl:hasDbXref ICD9CM:368.30 semapv:UnspecifiedMatching DOID:12667 binocular vision disease oboInOwl:hasDbXref NCI:C34422 semapv:UnspecifiedMatching @@ -16152,27 +16178,27 @@ DOID:12667 binocular vision disease oboInOwl:hasDbXref UMLS_CUI:C0005461 semapv: DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref ICD10CM:H53.31 semapv:UnspecifiedMatching DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref ICD9CM:368.34 semapv:UnspecifiedMatching DOID:12668 abnormal retinal correspondence oboInOwl:hasDbXref UMLS_CUI:C0155010 semapv:UnspecifiedMatching -DOID:12678 hypercalcemia oboInOwl:hasDbXref NCI:C3112 semapv:UnspecifiedMatching -DOID:12678 hypercalcemia oboInOwl:hasDbXref MESH:D006934 semapv:UnspecifiedMatching -DOID:12678 hypercalcemia oboInOwl:hasDbXref UMLS_CUI:C0020437 semapv:UnspecifiedMatching DOID:12678 hypercalcemia oboInOwl:hasDbXref ICD10CM:E83.52 semapv:UnspecifiedMatching DOID:12678 hypercalcemia oboInOwl:hasDbXref ICD9CM:275.42 semapv:UnspecifiedMatching +DOID:12678 hypercalcemia oboInOwl:hasDbXref MESH:D006934 semapv:UnspecifiedMatching +DOID:12678 hypercalcemia oboInOwl:hasDbXref NCI:C3112 semapv:UnspecifiedMatching +DOID:12678 hypercalcemia oboInOwl:hasDbXref UMLS_CUI:C0020437 semapv:UnspecifiedMatching +DOID:12679 nephrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0027709 semapv:UnspecifiedMatching +DOID:12679 nephrocalcinosis oboInOwl:hasDbXref NCI:C84918 semapv:UnspecifiedMatching DOID:12679 nephrocalcinosis oboInOwl:hasDbXref GARD:7177 semapv:UnspecifiedMatching DOID:12679 nephrocalcinosis oboInOwl:hasDbXref MESH:D009397 semapv:UnspecifiedMatching -DOID:12679 nephrocalcinosis oboInOwl:hasDbXref NCI:C84918 semapv:UnspecifiedMatching -DOID:12679 nephrocalcinosis oboInOwl:hasDbXref UMLS_CUI:C0027709 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref ICD9CM:335.23 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref MESH:D020828 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref NCI:C129934 semapv:UnspecifiedMatching DOID:12680 pseudobulbar palsy oboInOwl:hasDbXref UMLS_CUI:C0033790 semapv:UnspecifiedMatching -DOID:12683 vestibular neuronitis oboInOwl:hasDbXref UMLS_CUI:C0751908 semapv:UnspecifiedMatching DOID:12683 vestibular neuronitis oboInOwl:hasDbXref ICD10CM:H81.2 semapv:UnspecifiedMatching DOID:12683 vestibular neuronitis oboInOwl:hasDbXref ICD9CM:386.12 semapv:UnspecifiedMatching DOID:12683 vestibular neuronitis oboInOwl:hasDbXref MESH:D020338 semapv:UnspecifiedMatching +DOID:12683 vestibular neuronitis oboInOwl:hasDbXref UMLS_CUI:C0751908 semapv:UnspecifiedMatching DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref NCI:C92563 semapv:UnspecifiedMatching -DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref UMLS_CUI:C0236827 semapv:UnspecifiedMatching DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref ICD10CM:F80.2 semapv:UnspecifiedMatching DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref ICD9CM:315.32 semapv:UnspecifiedMatching +DOID:12685 mixed receptive-expressive language disorder oboInOwl:hasDbXref UMLS_CUI:C0236827 semapv:UnspecifiedMatching DOID:12689 acoustic neuroma oboInOwl:hasDbXref UMLS_CUI:C0027859 semapv:UnspecifiedMatching DOID:12689 acoustic neuroma oboInOwl:hasDbXref NCI:C3276 semapv:UnspecifiedMatching DOID:12689 acoustic neuroma oboInOwl:hasDbXref GARD:223 semapv:UnspecifiedMatching @@ -16209,9 +16235,9 @@ DOID:12700 hyperprolactinemia oboInOwl:hasDbXref UMLS_CUI:C0020514 semapv:Unspec DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref UMLS_CUI:C0004135 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia skos:exactMatch MESH:D001260 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref OMIM:208900 semapv:UnspecifiedMatching -DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref NCI:C2887 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref MESH:D001260 semapv:UnspecifiedMatching DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref GARD:5862 semapv:UnspecifiedMatching +DOID:12704 ataxia telangiectasia oboInOwl:hasDbXref NCI:C2887 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref GARD:6468 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref ICD10CM:G11.11 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref ICD9CM:334.0 semapv:UnspecifiedMatching @@ -16219,9 +16245,9 @@ DOID:12705 Friedreich ataxia oboInOwl:hasDbXref MESH:D005621 semapv:UnspecifiedM DOID:12705 Friedreich ataxia oboInOwl:hasDbXref NCI:C84718 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia oboInOwl:hasDbXref UMLS_CUI:C0016719 semapv:UnspecifiedMatching DOID:12705 Friedreich ataxia skos:exactMatch MESH:D005621 semapv:UnspecifiedMatching +DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref OMIM:213400 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref GARD:9256 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref MESH:D002527 semapv:UnspecifiedMatching -DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref OMIM:213400 semapv:UnspecifiedMatching DOID:12707 myoclonic cerebellar dyssynergia oboInOwl:hasDbXref UMLS_CUI:C0007761 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref UMLS_CUI:C0155765 semapv:UnspecifiedMatching DOID:1271 capillary disease oboInOwl:hasDbXref ICD9CM:448 semapv:UnspecifiedMatching @@ -16231,12 +16257,12 @@ DOID:12711 black piedra oboInOwl:hasDbXref ICD9CM:111.3 semapv:UnspecifiedMatchi DOID:12711 black piedra oboInOwl:hasDbXref MESH:D010854 semapv:UnspecifiedMatching DOID:12711 black piedra oboInOwl:hasDbXref UMLS_CUI:C0031898 semapv:UnspecifiedMatching DOID:12711 black piedra oboInOwl:hasDbXref UMLS_CUI:C0153249 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis oboInOwl:hasDbXref GARD:206 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis oboInOwl:hasDbXref ICD10CM:Q61.5 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis oboInOwl:hasDbXref NCI:C123200 semapv:UnspecifiedMatching -DOID:12712 nephronophthisis oboInOwl:hasDbXref OMIMPS:256100 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref ORDO:655 semapv:UnspecifiedMatching +DOID:12712 nephronophthisis oboInOwl:hasDbXref OMIMPS:256100 semapv:UnspecifiedMatching DOID:12712 nephronophthisis oboInOwl:hasDbXref UMLS_CUI:C0687120 semapv:UnspecifiedMatching +DOID:12712 nephronophthisis oboInOwl:hasDbXref ICD10CM:Q61.5 semapv:UnspecifiedMatching +DOID:12712 nephronophthisis oboInOwl:hasDbXref GARD:206 semapv:UnspecifiedMatching +DOID:12712 nephronophthisis oboInOwl:hasDbXref NCI:C123200 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref UMLS_CUI:C0013903 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref OMIM:225500 semapv:UnspecifiedMatching DOID:12714 Ellis-Van Creveld syndrome oboInOwl:hasDbXref NCI:C84684 semapv:UnspecifiedMatching @@ -16253,11 +16279,11 @@ DOID:12718 chronic gonococcal salpingitis oboInOwl:hasDbXref UMLS_CUI:C0153208 s DOID:1272 telangiectasis oboInOwl:hasDbXref MESH:D013684 semapv:UnspecifiedMatching DOID:1272 telangiectasis oboInOwl:hasDbXref NCI:C28194 semapv:UnspecifiedMatching DOID:1272 telangiectasis oboInOwl:hasDbXref UMLS_CUI:C0039446 semapv:UnspecifiedMatching +DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0007775 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref NCI:C34459 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref ICD9CM:437.0 semapv:UnspecifiedMatching DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref ICD10CM:I67.2 semapv:UnspecifiedMatching -DOID:12720 cerebral atherosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref GARD:10756 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref ICD9CM:756.56 semapv:UnspecifiedMatching DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref MESH:D010009 semapv:UnspecifiedMatching @@ -16266,13 +16292,13 @@ DOID:12721 multiple epiphyseal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0026760 se DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref MESH:D018357 semapv:UnspecifiedMatching DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref NCI:C3354 semapv:UnspecifiedMatching DOID:1273 respiratory syncytial virus infectious disease oboInOwl:hasDbXref UMLS_CUI:C0035235 semapv:UnspecifiedMatching +DOID:12731 pars planitis oboInOwl:hasDbXref OMIM:606177 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref NCI:C34903 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref UMLS_CUI:C0030593 semapv:UnspecifiedMatching -DOID:12731 pars planitis oboInOwl:hasDbXref MESH:D015868 semapv:UnspecifiedMatching -DOID:12731 pars planitis oboInOwl:hasDbXref OMIM:606177 semapv:UnspecifiedMatching +DOID:12731 pars planitis oboInOwl:hasDbXref ICD9CM:363.21 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref ICD10CM:H30.2 semapv:UnspecifiedMatching DOID:12731 pars planitis oboInOwl:hasDbXref GARD:7339 semapv:UnspecifiedMatching -DOID:12731 pars planitis oboInOwl:hasDbXref ICD9CM:363.21 semapv:UnspecifiedMatching +DOID:12731 pars planitis oboInOwl:hasDbXref MESH:D015868 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref MESH:D015867 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref NCI:C35110 semapv:UnspecifiedMatching DOID:12732 intermediate uveitis oboInOwl:hasDbXref UMLS_CUI:C0042166 semapv:UnspecifiedMatching @@ -16285,22 +16311,22 @@ DOID:12735 hernia of ovary and fallopian tube oboInOwl:hasDbXref ICD9CM:620.4 se DOID:12735 hernia of ovary and fallopian tube oboInOwl:hasDbXref UMLS_CUI:C0495094 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref UMLS_CUI:C0343398 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref MESH:D021866 semapv:UnspecifiedMatching -DOID:12750 cyclosporiasis oboInOwl:hasDbXref ICD9CM:007.5 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref GARD:9528 semapv:UnspecifiedMatching DOID:12750 cyclosporiasis oboInOwl:hasDbXref ICD10CM:A07.4 semapv:UnspecifiedMatching +DOID:12750 cyclosporiasis oboInOwl:hasDbXref ICD9CM:007.5 semapv:UnspecifiedMatching DOID:12753 corneal staphyloma oboInOwl:hasDbXref ICD10CM:H18.72 semapv:UnspecifiedMatching DOID:12753 corneal staphyloma oboInOwl:hasDbXref ICD9CM:371.73 semapv:UnspecifiedMatching DOID:12753 corneal staphyloma oboInOwl:hasDbXref UMLS_CUI:C0152440 semapv:UnspecifiedMatching DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref ICD9CM:190.7 semapv:UnspecifiedMatching DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref NCI:C3567 semapv:UnspecifiedMatching DOID:12756 lacrimal duct cancer oboInOwl:hasDbXref UMLS_CUI:C0153631 semapv:UnspecifiedMatching +DOID:12759 choroid cancer oboInOwl:hasDbXref NCI:C3566 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref UMLS_CUI:C0153630 semapv:UnspecifiedMatching -DOID:12759 choroid cancer oboInOwl:hasDbXref ICD10CM:C69.3 semapv:UnspecifiedMatching -DOID:12759 choroid cancer oboInOwl:hasDbXref ICD9CM:190.6 semapv:UnspecifiedMatching -DOID:12759 choroid cancer oboInOwl:hasDbXref MESH:D002830 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref NCI:C2949 semapv:UnspecifiedMatching -DOID:12759 choroid cancer oboInOwl:hasDbXref NCI:C3566 semapv:UnspecifiedMatching DOID:12759 choroid cancer oboInOwl:hasDbXref UMLS_CUI:C0008523 semapv:UnspecifiedMatching +DOID:12759 choroid cancer oboInOwl:hasDbXref ICD9CM:190.6 semapv:UnspecifiedMatching +DOID:12759 choroid cancer oboInOwl:hasDbXref ICD10CM:C69.3 semapv:UnspecifiedMatching +DOID:12759 choroid cancer oboInOwl:hasDbXref MESH:D002830 semapv:UnspecifiedMatching DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref UMLS_CUI:C0040381 semapv:UnspecifiedMatching DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref NCI:C85193 semapv:UnspecifiedMatching DOID:1278 tolosa-hunt syndrome oboInOwl:hasDbXref GARD:7777 semapv:UnspecifiedMatching @@ -16324,21 +16350,21 @@ DOID:1279 ocular motility disease oboInOwl:hasDbXref GARD:7237 semapv:Unspecifie DOID:12797 hallucinogen abuse oboInOwl:hasDbXref ICD10CM:F16.1 semapv:UnspecifiedMatching DOID:12797 hallucinogen abuse oboInOwl:hasDbXref ICD9CM:305.3 semapv:UnspecifiedMatching DOID:12797 hallucinogen abuse oboInOwl:hasDbXref UMLS_CUI:C0018526 semapv:UnspecifiedMatching +DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref GARD:7065 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ICD10CM:E76.3 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ICD9CM:277.5 semapv:UnspecifiedMatching -DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref MESH:D009083 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref NCI:C61259 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref OMIM:252700 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref OMIMPS:607014 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref ORDO:79213 semapv:UnspecifiedMatching DOID:12798 mucopolysaccharidosis oboInOwl:hasDbXref UMLS_CUI:C0026703 semapv:UnspecifiedMatching -DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref UMLS_CUI:C0026705 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching +DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref UMLS_CUI:C0026705 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref NCI:C61260 semapv:UnspecifiedMatching -DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching -DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref ICD10CM:E76.1 semapv:UnspecifiedMatching DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref GARD:6675 semapv:UnspecifiedMatching +DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref ICD10CM:E76.1 semapv:UnspecifiedMatching +DOID:12799 mucopolysaccharidosis II oboInOwl:hasDbXref MESH:D016532 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref GARD:7095 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching DOID:12800 mucopolysaccharidosis VI oboInOwl:hasDbXref NCI:C61264 semapv:UnspecifiedMatching @@ -16351,25 +16377,25 @@ DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref ORDO:581 semapv:Unspecif DOID:12801 mucopolysaccharidosis III oboInOwl:hasDbXref UMLS_CUI:C0026706 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref UMLS_CUI:C0023786 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref NCI:C85053 semapv:UnspecifiedMatching -DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref ICD10CM:E76.0 semapv:UnspecifiedMatching DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref GARD:10335 semapv:UnspecifiedMatching +DOID:12802 mucopolysaccharidosis I oboInOwl:hasDbXref MESH:D008059 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref ICD10CM:E76.29 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref MESH:D016538 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref NCI:C84903 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching DOID:12803 Sly syndrome oboInOwl:hasDbXref UMLS_CUI:C0085132 semapv:UnspecifiedMatching +DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref UMLS_CUI:C0026707 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref ICD10CM:E76.219 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref MESH:D009085 semapv:UnspecifiedMatching DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref NCI:C61263 semapv:UnspecifiedMatching -DOID:12804 mucopolysaccharidosis IV oboInOwl:hasDbXref UMLS_CUI:C0026707 semapv:UnspecifiedMatching +DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref UMLS_CUI:C1300133 semapv:UnspecifiedMatching DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref ICD10CM:H04.03 semapv:UnspecifiedMatching DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref ICD9CM:375.03 semapv:UnspecifiedMatching -DOID:12809 chronic lacrimal gland enlargement oboInOwl:hasDbXref UMLS_CUI:C1300133 semapv:UnspecifiedMatching +DOID:1283 enterocele oboInOwl:hasDbXref ICD10CM:K46 semapv:UnspecifiedMatching +DOID:1283 enterocele oboInOwl:hasDbXref ICD9CM:618.6 semapv:UnspecifiedMatching DOID:1283 enterocele oboInOwl:hasDbXref MESH:D006547 semapv:UnspecifiedMatching DOID:1283 enterocele oboInOwl:hasDbXref UMLS_CUI:C0205792 semapv:UnspecifiedMatching -DOID:1283 enterocele oboInOwl:hasDbXref ICD9CM:618.6 semapv:UnspecifiedMatching -DOID:1283 enterocele oboInOwl:hasDbXref ICD10CM:K46 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref ICD10CM:G82.5 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref ICD9CM:344.00 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref MESH:D011782 semapv:UnspecifiedMatching @@ -16377,75 +16403,75 @@ DOID:12835 quadriplegia oboInOwl:hasDbXref NCI:C50721 semapv:UnspecifiedMatching DOID:12835 quadriplegia oboInOwl:hasDbXref UMLS_CUI:C0034372 semapv:UnspecifiedMatching DOID:12836 senile entropion oboInOwl:hasDbXref ICD9CM:374.01 semapv:UnspecifiedMatching DOID:12836 senile entropion oboInOwl:hasDbXref UMLS_CUI:C0155188 semapv:UnspecifiedMatching +DOID:12837 thyroid crisis oboInOwl:hasDbXref UMLS_CUI:C0040127 semapv:UnspecifiedMatching DOID:12837 thyroid crisis oboInOwl:hasDbXref MESH:D013958 semapv:UnspecifiedMatching DOID:12837 thyroid crisis oboInOwl:hasDbXref NCI:C112836 semapv:UnspecifiedMatching -DOID:12837 thyroid crisis oboInOwl:hasDbXref UMLS_CUI:C0040127 semapv:UnspecifiedMatching -DOID:1284 prolapse of female genital organ oboInOwl:hasDbXref UMLS_CUI:C0029801 semapv:UnspecifiedMatching DOID:1284 prolapse of female genital organ oboInOwl:hasDbXref ICD9CM:618.8 semapv:UnspecifiedMatching -DOID:12841 ancylostomiasis skos:exactMatch MESH:D000724 semapv:UnspecifiedMatching -DOID:12841 ancylostomiasis oboInOwl:hasDbXref UMLS_CUI:C0002831 semapv:UnspecifiedMatching -DOID:12841 ancylostomiasis oboInOwl:hasDbXref NCI:C35805 semapv:UnspecifiedMatching +DOID:1284 prolapse of female genital organ oboInOwl:hasDbXref UMLS_CUI:C0029801 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref GARD:9742 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref ICD10CM:B76.0 semapv:UnspecifiedMatching DOID:12841 ancylostomiasis oboInOwl:hasDbXref MESH:D000724 semapv:UnspecifiedMatching +DOID:12841 ancylostomiasis oboInOwl:hasDbXref NCI:C35805 semapv:UnspecifiedMatching +DOID:12841 ancylostomiasis oboInOwl:hasDbXref UMLS_CUI:C0002831 semapv:UnspecifiedMatching +DOID:12841 ancylostomiasis skos:exactMatch MESH:D000724 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref OMIM:139393 semapv:UnspecifiedMatching -DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref GARD:6554 semapv:UnspecifiedMatching +DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref UMLS_CUI:C0018378 semapv:UnspecifiedMatching +DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref NCI:C116345 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref ICD10CM:G61.0 semapv:UnspecifiedMatching +DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref GARD:6554 semapv:UnspecifiedMatching DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref MESH:D020275 semapv:UnspecifiedMatching -DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref NCI:C116345 semapv:UnspecifiedMatching -DOID:12842 Guillain-Barre syndrome oboInOwl:hasDbXref UMLS_CUI:C0018378 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref ORDO:106 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref UMLS_CUI:C0004352 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref OMIM:209850 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref NCI:C97161 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref ICD9CM:299.0 semapv:UnspecifiedMatching -DOID:12849 autistic disorder oboInOwl:hasDbXref ICD10CM:F84.0 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref EFO:0003758 semapv:UnspecifiedMatching +DOID:12849 autistic disorder oboInOwl:hasDbXref ICD10CM:F84.0 semapv:UnspecifiedMatching +DOID:12849 autistic disorder oboInOwl:hasDbXref ICD9CM:299.0 semapv:UnspecifiedMatching DOID:12849 autistic disorder oboInOwl:hasDbXref MESH:D001321 semapv:UnspecifiedMatching -DOID:1285 rectal disease oboInOwl:hasDbXref MESH:D012002 semapv:UnspecifiedMatching +DOID:12849 autistic disorder oboInOwl:hasDbXref NCI:C97161 semapv:UnspecifiedMatching +DOID:12849 autistic disorder oboInOwl:hasDbXref OMIM:209850 semapv:UnspecifiedMatching +DOID:12849 autistic disorder oboInOwl:hasDbXref UMLS_CUI:C0004352 semapv:UnspecifiedMatching DOID:1285 rectal disease oboInOwl:hasDbXref UMLS_CUI:C0034882 semapv:UnspecifiedMatching +DOID:1285 rectal disease oboInOwl:hasDbXref MESH:D012002 semapv:UnspecifiedMatching DOID:12857 Achilles bursitis oboInOwl:hasDbXref ICD10CM:M76.6 semapv:UnspecifiedMatching DOID:12857 Achilles bursitis oboInOwl:hasDbXref UMLS_CUI:C0149846 semapv:UnspecifiedMatching -DOID:12858 Huntington's disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching -DOID:12858 Huntington's disease oboInOwl:hasDbXref UMLS_CUI:C0020179 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref NCI:C82342 semapv:UnspecifiedMatching +DOID:12858 Huntington's disease oboInOwl:hasDbXref OMIM:143100 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref MESH:D006816 semapv:UnspecifiedMatching +DOID:12858 Huntington's disease oboInOwl:hasDbXref UMLS_CUI:C0020179 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref ICD9CM:333.4 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref GARD:6677 semapv:UnspecifiedMatching DOID:12858 Huntington's disease oboInOwl:hasDbXref KEGG:05016 semapv:UnspecifiedMatching -DOID:12859 choreatic disease oboInOwl:hasDbXref ICD10CM:G25.5 semapv:UnspecifiedMatching -DOID:12859 choreatic disease oboInOwl:hasDbXref OMIM:118700 semapv:UnspecifiedMatching DOID:12859 choreatic disease oboInOwl:hasDbXref OMIM:215450 semapv:UnspecifiedMatching DOID:12859 choreatic disease oboInOwl:hasDbXref ORDO:1429 semapv:UnspecifiedMatching -DOID:1287 cardiovascular system disease oboInOwl:hasDbXref ICD9CM:429.2 semapv:UnspecifiedMatching -DOID:1287 cardiovascular system disease oboInOwl:hasDbXref MESH:D002318 semapv:UnspecifiedMatching +DOID:12859 choreatic disease oboInOwl:hasDbXref ICD10CM:G25.5 semapv:UnspecifiedMatching +DOID:12859 choreatic disease oboInOwl:hasDbXref OMIM:118700 semapv:UnspecifiedMatching DOID:1287 cardiovascular system disease oboInOwl:hasDbXref NCI:C2931 semapv:UnspecifiedMatching DOID:1287 cardiovascular system disease oboInOwl:hasDbXref UMLS_CUI:C0007222 semapv:UnspecifiedMatching -DOID:12883 hypochondriasis oboInOwl:hasDbXref NCI:C9493 semapv:UnspecifiedMatching +DOID:1287 cardiovascular system disease oboInOwl:hasDbXref ICD9CM:429.2 semapv:UnspecifiedMatching +DOID:1287 cardiovascular system disease oboInOwl:hasDbXref MESH:D002318 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref MESH:D006998 semapv:UnspecifiedMatching -DOID:12883 hypochondriasis oboInOwl:hasDbXref UMLS_CUI:C0020604 semapv:UnspecifiedMatching +DOID:12883 hypochondriasis oboInOwl:hasDbXref NCI:C9493 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref ICD10CM:F45.21 semapv:UnspecifiedMatching DOID:12883 hypochondriasis oboInOwl:hasDbXref ICD9CM:300.7 semapv:UnspecifiedMatching -DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 semapv:UnspecifiedMatching +DOID:12883 hypochondriasis oboInOwl:hasDbXref UMLS_CUI:C0020604 semapv:UnspecifiedMatching +DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref UMLS_CUI:C0393799 semapv:UnspecifiedMatching DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref NCI:C116958 semapv:UnspecifiedMatching -DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref GARD:3668 semapv:UnspecifiedMatching +DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref MESH:D019846 semapv:UnspecifiedMatching DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref ICD10CM:G61.0 semapv:UnspecifiedMatching -DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref UMLS_CUI:C0393799 semapv:UnspecifiedMatching -DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS_CUI:C0524851 semapv:UnspecifiedMatching -DOID:1289 neurodegenerative disease oboInOwl:hasDbXref NCI:C27090 semapv:UnspecifiedMatching -DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS_CUI:C1285162 semapv:UnspecifiedMatching +DOID:12889 Miller Fisher syndrome oboInOwl:hasDbXref GARD:3668 semapv:UnspecifiedMatching DOID:1289 neurodegenerative disease oboInOwl:hasDbXref ICD10CM:G31.9 semapv:UnspecifiedMatching DOID:1289 neurodegenerative disease oboInOwl:hasDbXref MESH:D019636 semapv:UnspecifiedMatching +DOID:1289 neurodegenerative disease oboInOwl:hasDbXref NCI:C27090 semapv:UnspecifiedMatching +DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS_CUI:C0524851 semapv:UnspecifiedMatching +DOID:1289 neurodegenerative disease oboInOwl:hasDbXref UMLS_CUI:C1285162 semapv:UnspecifiedMatching +DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS_CUI:C1527336 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS_CUI:C0086981 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref OMIM:270150 semapv:UnspecifiedMatching -DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref UMLS_CUI:C1527336 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref NCI:C26883 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref NCI:C70647 semapv:UnspecifiedMatching -DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref MESH:D012859 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref ICD9CM:710.2 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref ICD10CM:M35.0 semapv:UnspecifiedMatching DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref GARD:10252 semapv:UnspecifiedMatching +DOID:12894 Sjogren's syndrome oboInOwl:hasDbXref MESH:D012859 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref GARD:8444 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref MESH:D007638 semapv:UnspecifiedMatching DOID:12895 keratoconjunctivitis sicca oboInOwl:hasDbXref UMLS_CUI:C0022575 semapv:UnspecifiedMatching @@ -16454,11 +16480,11 @@ DOID:12897 submandibular gland disease oboInOwl:hasDbXref UMLS_CUI:C0038557 sema DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref NCI:C3949 semapv:UnspecifiedMatching DOID:12899 benign lymphoepithelial lesion of salivary gland oboInOwl:hasDbXref UMLS_CUI:C0266995 semapv:UnspecifiedMatching -DOID:12900 Mikulicz disease oboInOwl:hasDbXref UMLS_CUI:C0026103 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref NCI:C34819 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref MESH:D008882 semapv:UnspecifiedMatching -DOID:12900 Mikulicz disease oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching +DOID:12900 Mikulicz disease oboInOwl:hasDbXref UMLS_CUI:C0026103 semapv:UnspecifiedMatching DOID:12900 Mikulicz disease oboInOwl:hasDbXref GARD:7043 semapv:UnspecifiedMatching +DOID:12900 Mikulicz disease oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref ICD10CM:K11.8 semapv:UnspecifiedMatching DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref MESH:D012797 semapv:UnspecifiedMatching DOID:12901 necrotizing sialometaplasia oboInOwl:hasDbXref UMLS_CUI:C0037033 semapv:UnspecifiedMatching @@ -16473,9 +16499,9 @@ DOID:12905 sialolithiasis oboInOwl:hasDbXref UMLS_CUI:C0036091 semapv:Unspecifie DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref UMLS_CUI:C0040021 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref OMIM:211480 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref NCI:C35070 semapv:UnspecifiedMatching -DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD9CM:443.1 semapv:UnspecifiedMatching -DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD10CM:I73.1 semapv:UnspecifiedMatching DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref MESH:D013919 semapv:UnspecifiedMatching +DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD10CM:I73.1 semapv:UnspecifiedMatching +DOID:12918 thromboangiitis obliterans oboInOwl:hasDbXref ICD9CM:443.1 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref ICD10CM:B53.0 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref ICD9CM:084.3 semapv:UnspecifiedMatching DOID:12919 Plasmodium ovale malaria oboInOwl:hasDbXref UMLS_CUI:C0152072 semapv:UnspecifiedMatching @@ -16485,62 +16511,62 @@ DOID:12926 hypodermyiasis oboInOwl:hasDbXref UMLS_CUI:C0020607 semapv:Unspecifie DOID:12927 screw worm infectious disease oboInOwl:hasDbXref MESH:D012610 semapv:UnspecifiedMatching DOID:12927 screw worm infectious disease oboInOwl:hasDbXref UMLS_CUI:C0036465 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref NCI:C98922 semapv:UnspecifiedMatching -DOID:12929 endocardial fibroelastosis skos:exactMatch MESH:D004695 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref UMLS_CUI:C0014117 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref OMIM:226000 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref MESH:D004695 semapv:UnspecifiedMatching -DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD9CM:425.3 semapv:UnspecifiedMatching +DOID:12929 endocardial fibroelastosis skos:exactMatch MESH:D004695 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD10CM:I42.4 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref GARD:6336 semapv:UnspecifiedMatching DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref GARD:2121 semapv:UnspecifiedMatching +DOID:12929 endocardial fibroelastosis oboInOwl:hasDbXref ICD9CM:425.3 semapv:UnspecifiedMatching DOID:1293 labia minora carcinoma oboInOwl:hasDbXref NCI:C9364 semapv:UnspecifiedMatching DOID:1293 labia minora carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334357 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref EFO:0000407 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref GARD:221 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007193 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ORDO:217604 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref OMIMPS:115200 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref NCI:C84673 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.0 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref KEGG:05414 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref GARD:221 semapv:UnspecifiedMatching +DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref EFO:0000407 semapv:UnspecifiedMatching DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref MESH:D002311 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref NCI:C84673 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref OMIMPS:115200 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref ORDO:217604 semapv:UnspecifiedMatching -DOID:12930 dilated cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007193 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref UMLS_CUI:C0553980 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref NCI:C34585 semapv:UnspecifiedMatching +DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref GARD:6340 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref ICD9CM:425.0 semapv:UnspecifiedMatching DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref MESH:D004719 semapv:UnspecifiedMatching -DOID:12932 endomyocardial fibrosis oboInOwl:hasDbXref GARD:6340 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref GARD:6817 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref ICD10CM:H49.81 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref MESH:D007625 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref NCI:C84798 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref OMIM:530000 semapv:UnspecifiedMatching DOID:12934 Kearns-Sayre syndrome oboInOwl:hasDbXref UMLS_CUI:C0022541 semapv:UnspecifiedMatching -DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007192 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref NCI:C53653 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.6 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.5 semapv:UnspecifiedMatching DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref MESH:D002310 semapv:UnspecifiedMatching -DOID:1294 vulva carcinoma oboInOwl:hasDbXref NCI:C4866 semapv:UnspecifiedMatching +DOID:12935 alcoholic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007192 semapv:UnspecifiedMatching DOID:1294 vulva carcinoma oboInOwl:hasDbXref UMLS_CUI:C0677055 semapv:UnspecifiedMatching -DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155197 semapv:UnspecifiedMatching -DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching +DOID:1294 vulva carcinoma oboInOwl:hasDbXref NCI:C4866 semapv:UnspecifiedMatching DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.23 semapv:UnspecifiedMatching DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref ICD9CM:374.21 semapv:UnspecifiedMatching +DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching +DOID:12958 paralytic lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155197 semapv:UnspecifiedMatching +DOID:12959 lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0152226 semapv:UnspecifiedMatching DOID:12959 lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.2 semapv:UnspecifiedMatching DOID:12959 lagophthalmos oboInOwl:hasDbXref ICD9CM:374.2 semapv:UnspecifiedMatching DOID:12959 lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching -DOID:12959 lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0152226 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref ICD9CM:755.55 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref NCI:C34348 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref OMIM:101200 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia oboInOwl:hasDbXref UMLS_CUI:C1510455 semapv:UnspecifiedMatching DOID:12960 acrocephalosyndactylia skos:exactMatch MESH:D000168 semapv:UnspecifiedMatching -DOID:12961 Poland syndrome oboInOwl:hasDbXref OMIM:173800 semapv:UnspecifiedMatching +DOID:12961 Poland syndrome oboInOwl:hasDbXref ICD10CM:Q79.8 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref UMLS_CUI:C0032357 semapv:UnspecifiedMatching -DOID:12961 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching +DOID:12961 Poland syndrome oboInOwl:hasDbXref OMIM:173800 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref GARD:7412 semapv:UnspecifiedMatching -DOID:12961 Poland syndrome oboInOwl:hasDbXref ICD10CM:Q79.8 semapv:UnspecifiedMatching +DOID:12961 Poland syndrome oboInOwl:hasDbXref MESH:D011045 semapv:UnspecifiedMatching DOID:12961 Poland syndrome oboInOwl:hasDbXref NCI:C85017 semapv:UnspecifiedMatching DOID:12969 central nervous system leukemia oboInOwl:hasDbXref NCI:C5440 semapv:UnspecifiedMatching DOID:12969 central nervous system leukemia oboInOwl:hasDbXref UMLS_CUI:C1332884 semapv:UnspecifiedMatching @@ -16553,26 +16579,26 @@ DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref ORDO:822 semapv:Unspecifi DOID:12971 hereditary spherocytosis oboInOwl:hasDbXref UMLS_CUI:C0037889 semapv:UnspecifiedMatching DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis oboInOwl:hasDbXref ICD9CM:202.46 semapv:UnspecifiedMatching DOID:12972 intrapelvic lymph node leukemic reticuloendotheliosis oboInOwl:hasDbXref UMLS_CUI:C0153831 semapv:UnspecifiedMatching -DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref UMLS_CUI:C0024537 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref NCI:C34800 semapv:UnspecifiedMatching +DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref MESH:D016780 semapv:UnspecifiedMatching +DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref UMLS_CUI:C0024537 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref ICD10CM:B51 semapv:UnspecifiedMatching DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref ICD9CM:084.1 semapv:UnspecifiedMatching -DOID:12978 Plasmodium vivax malaria oboInOwl:hasDbXref MESH:D016780 semapv:UnspecifiedMatching DOID:12984 vagus nerve neoplasm oboInOwl:hasDbXref NCI:C5831 semapv:UnspecifiedMatching DOID:12984 vagus nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263901 semapv:UnspecifiedMatching DOID:12986 leukostasis oboInOwl:hasDbXref MESH:D018921 semapv:UnspecifiedMatching DOID:12986 leukostasis oboInOwl:hasDbXref NCI:C4062 semapv:UnspecifiedMatching DOID:12986 leukostasis oboInOwl:hasDbXref UMLS_CUI:C0282548 semapv:UnspecifiedMatching -DOID:12987 agranulocytosis oboInOwl:hasDbXref UMLS_CUI:C0001824 semapv:UnspecifiedMatching DOID:12987 agranulocytosis oboInOwl:hasDbXref ICD10CM:D70 semapv:UnspecifiedMatching DOID:12987 agranulocytosis oboInOwl:hasDbXref MESH:D000380 semapv:UnspecifiedMatching +DOID:12987 agranulocytosis oboInOwl:hasDbXref UMLS_CUI:C0001824 semapv:UnspecifiedMatching DOID:12987 agranulocytosis skos:exactMatch MESH:D000380 semapv:UnspecifiedMatching -DOID:12995 conduct disorder oboInOwl:hasDbXref NCI:C89329 semapv:UnspecifiedMatching -DOID:12995 conduct disorder oboInOwl:hasDbXref UMLS_CUI:C0149654 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref MESH:D019955 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref ICD9CM:312.9 semapv:UnspecifiedMatching -DOID:12995 conduct disorder oboInOwl:hasDbXref ICD10CM:F91 semapv:UnspecifiedMatching +DOID:12995 conduct disorder oboInOwl:hasDbXref UMLS_CUI:C0149654 semapv:UnspecifiedMatching DOID:12995 conduct disorder oboInOwl:hasDbXref EFO:0004216 semapv:UnspecifiedMatching +DOID:12995 conduct disorder oboInOwl:hasDbXref ICD10CM:F91 semapv:UnspecifiedMatching +DOID:12995 conduct disorder oboInOwl:hasDbXref NCI:C89329 semapv:UnspecifiedMatching DOID:12996 acute dacryocystitis oboInOwl:hasDbXref ICD10CM:H04.32 semapv:UnspecifiedMatching DOID:12996 acute dacryocystitis oboInOwl:hasDbXref ICD9CM:375.32 semapv:UnspecifiedMatching DOID:12996 acute dacryocystitis oboInOwl:hasDbXref UMLS_CUI:C0155237 semapv:UnspecifiedMatching @@ -16582,91 +16608,91 @@ DOID:12997 Phlegmonous dacryocystitis oboInOwl:hasDbXref UMLS_CUI:C0155238 semap DOID:13001 carotid stenosis oboInOwl:hasDbXref MESH:D016893 semapv:UnspecifiedMatching DOID:13001 carotid stenosis oboInOwl:hasDbXref NCI:C95804 semapv:UnspecifiedMatching DOID:13001 carotid stenosis oboInOwl:hasDbXref UMLS_CUI:C0007282 semapv:UnspecifiedMatching -DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref UMLS_CUI:C0038531 semapv:UnspecifiedMatching -DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref NCI:C35044 semapv:UnspecifiedMatching DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref ICD9CM:435.2 semapv:UnspecifiedMatching DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref MESH:D013349 semapv:UnspecifiedMatching -DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref ICD10CM:G45.0 semapv:UnspecifiedMatching -DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref ICD9CM:435.3 semapv:UnspecifiedMatching -DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching +DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref NCI:C35044 semapv:UnspecifiedMatching +DOID:13002 subclavian steal syndrome oboInOwl:hasDbXref UMLS_CUI:C0038531 semapv:UnspecifiedMatching DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref UMLS_CUI:C0042568 semapv:UnspecifiedMatching DOID:13003 vertebrobasilar insufficiency skos:exactMatch MESH:D014715 semapv:UnspecifiedMatching +DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching +DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref ICD10CM:G45.0 semapv:UnspecifiedMatching +DOID:13003 vertebrobasilar insufficiency oboInOwl:hasDbXref ICD9CM:435.3 semapv:UnspecifiedMatching DOID:13005 intra-abdominal lymph node mast cell malignancy oboInOwl:hasDbXref ICD9CM:202.63 semapv:UnspecifiedMatching DOID:13005 intra-abdominal lymph node mast cell malignancy oboInOwl:hasDbXref UMLS_CUI:C0153844 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref ICD10CM:B30.0 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref ICD9CM:077.1 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref NCI:C34590 semapv:UnspecifiedMatching DOID:13014 shipyard eye oboInOwl:hasDbXref UMLS_CUI:C0014493 semapv:UnspecifiedMatching -DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref NCI:C34982 semapv:UnspecifiedMatching -DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 semapv:UnspecifiedMatching -DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref UMLS_CUI:C0035344 semapv:UnspecifiedMatching -DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref ICD10CM:H35.1 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref GARD:5695 semapv:UnspecifiedMatching +DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref ICD10CM:H35.1 semapv:UnspecifiedMatching DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref ICD9CM:362.21 semapv:UnspecifiedMatching +DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref MESH:D012178 semapv:UnspecifiedMatching +DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref NCI:C34982 semapv:UnspecifiedMatching +DOID:13025 retinopathy of prematurity oboInOwl:hasDbXref UMLS_CUI:C0035344 semapv:UnspecifiedMatching +DOID:13026 lobomycosis oboInOwl:hasDbXref UMLS_CUI:C0152066 semapv:UnspecifiedMatching +DOID:13026 lobomycosis oboInOwl:hasDbXref MESH:D060368 semapv:UnspecifiedMatching DOID:13026 lobomycosis oboInOwl:hasDbXref ICD10CM:B48.0 semapv:UnspecifiedMatching DOID:13026 lobomycosis oboInOwl:hasDbXref ICD9CM:116.2 semapv:UnspecifiedMatching -DOID:13026 lobomycosis oboInOwl:hasDbXref MESH:D060368 semapv:UnspecifiedMatching -DOID:13026 lobomycosis oboInOwl:hasDbXref UMLS_CUI:C0152066 semapv:UnspecifiedMatching -DOID:13027 transient global amnesia oboInOwl:hasDbXref UMLS_CUI:C0338591 semapv:UnspecifiedMatching -DOID:13027 transient global amnesia oboInOwl:hasDbXref NCI:C85198 semapv:UnspecifiedMatching -DOID:13027 transient global amnesia oboInOwl:hasDbXref MESH:D020236 semapv:UnspecifiedMatching -DOID:13027 transient global amnesia oboInOwl:hasDbXref ICD10CM:G45.4 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref GARD:8172 semapv:UnspecifiedMatching +DOID:13027 transient global amnesia oboInOwl:hasDbXref ICD10CM:G45.4 semapv:UnspecifiedMatching DOID:13027 transient global amnesia oboInOwl:hasDbXref ICD9CM:437.7 semapv:UnspecifiedMatching +DOID:13027 transient global amnesia oboInOwl:hasDbXref MESH:D020236 semapv:UnspecifiedMatching +DOID:13027 transient global amnesia oboInOwl:hasDbXref NCI:C85198 semapv:UnspecifiedMatching +DOID:13027 transient global amnesia oboInOwl:hasDbXref UMLS_CUI:C0338591 semapv:UnspecifiedMatching +DOID:13031 balanoposthitis oboInOwl:hasDbXref UMLS_CUI:C0004691 semapv:UnspecifiedMatching DOID:13031 balanoposthitis oboInOwl:hasDbXref ICD10CM:N47.6 semapv:UnspecifiedMatching DOID:13031 balanoposthitis oboInOwl:hasDbXref ICD9CM:607.1 semapv:UnspecifiedMatching -DOID:13031 balanoposthitis oboInOwl:hasDbXref UMLS_CUI:C0004691 semapv:UnspecifiedMatching -DOID:13033 balanitis oboInOwl:hasDbXref UMLS_CUI:C0004690 semapv:UnspecifiedMatching -DOID:13033 balanitis oboInOwl:hasDbXref NCI:C26705 semapv:UnspecifiedMatching DOID:13033 balanitis oboInOwl:hasDbXref ICD10CM:N48.1 semapv:UnspecifiedMatching DOID:13033 balanitis oboInOwl:hasDbXref MESH:D001446 semapv:UnspecifiedMatching +DOID:13033 balanitis oboInOwl:hasDbXref NCI:C26705 semapv:UnspecifiedMatching +DOID:13033 balanitis oboInOwl:hasDbXref UMLS_CUI:C0004690 semapv:UnspecifiedMatching +DOID:13034 relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0035021 semapv:UnspecifiedMatching +DOID:13034 relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching DOID:13034 relapsing fever oboInOwl:hasDbXref ICD10CM:A68 semapv:UnspecifiedMatching DOID:13034 relapsing fever oboInOwl:hasDbXref ICD9CM:087 semapv:UnspecifiedMatching -DOID:13034 relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching -DOID:13034 relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0035021 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref ICD10CM:A68.0 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref ICD9CM:087.0 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref MESH:D012061 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref NCI:C128426 semapv:UnspecifiedMatching DOID:13035 louse-borne relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0152061 semapv:UnspecifiedMatching -DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0035022 semapv:UnspecifiedMatching DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref ICD10CM:A68.1 semapv:UnspecifiedMatching DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref ICD9CM:087.1 semapv:UnspecifiedMatching DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref NCI:C34976 semapv:UnspecifiedMatching -DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155198 semapv:UnspecifiedMatching +DOID:13036 tick-borne relapsing fever oboInOwl:hasDbXref UMLS_CUI:C0035022 semapv:UnspecifiedMatching DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.22 semapv:UnspecifiedMatching DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref ICD9CM:374.22 semapv:UnspecifiedMatching +DOID:13037 mechanical lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155198 semapv:UnspecifiedMatching +DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155199 semapv:UnspecifiedMatching +DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref ICD10CM:H02.21 semapv:UnspecifiedMatching DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref ICD9CM:374.23 semapv:UnspecifiedMatching -DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref MESH:D000092164 semapv:UnspecifiedMatching -DOID:13038 cicatricial lagophthalmos oboInOwl:hasDbXref UMLS_CUI:C0155199 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref ICD10CM:P29.3 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref ICD9CM:747.83 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref MESH:D010547 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref NCI:C85006 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref OMIM:265380 semapv:UnspecifiedMatching DOID:13042 persistent fetal circulation syndrome oboInOwl:hasDbXref UMLS_CUI:C0031190 semapv:UnspecifiedMatching -DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155807 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref ICD10CM:J01.3 semapv:UnspecifiedMatching DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref ICD9CM:461.3 semapv:UnspecifiedMatching -DOID:13050 corpus luteum cyst oboInOwl:hasDbXref UMLS_CUI:C0156361 semapv:UnspecifiedMatching +DOID:13046 acute sphenoidal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155807 semapv:UnspecifiedMatching DOID:13050 corpus luteum cyst oboInOwl:hasDbXref ICD9CM:620.1 semapv:UnspecifiedMatching -DOID:13060 traumatic glaucoma oboInOwl:hasDbXref ICD9CM:365.65 semapv:UnspecifiedMatching +DOID:13050 corpus luteum cyst oboInOwl:hasDbXref UMLS_CUI:C0156361 semapv:UnspecifiedMatching DOID:13060 traumatic glaucoma oboInOwl:hasDbXref UMLS_CUI:C0339594 semapv:UnspecifiedMatching -DOID:13068 renal osteodystrophy oboInOwl:hasDbXref ICD10CM:N25.0 semapv:UnspecifiedMatching +DOID:13060 traumatic glaucoma oboInOwl:hasDbXref ICD9CM:365.65 semapv:UnspecifiedMatching +DOID:13068 renal osteodystrophy oboInOwl:hasDbXref UMLS_CUI:C0035086 semapv:UnspecifiedMatching +DOID:13068 renal osteodystrophy oboInOwl:hasDbXref NCI:C114827 semapv:UnspecifiedMatching DOID:13068 renal osteodystrophy oboInOwl:hasDbXref ICD9CM:588.0 semapv:UnspecifiedMatching +DOID:13068 renal osteodystrophy oboInOwl:hasDbXref ICD10CM:N25.0 semapv:UnspecifiedMatching DOID:13068 renal osteodystrophy oboInOwl:hasDbXref MESH:D012080 semapv:UnspecifiedMatching -DOID:13068 renal osteodystrophy oboInOwl:hasDbXref NCI:C114827 semapv:UnspecifiedMatching -DOID:13068 renal osteodystrophy oboInOwl:hasDbXref UMLS_CUI:C0035086 semapv:UnspecifiedMatching DOID:1307 dementia oboInOwl:hasDbXref ICD9CM:290.8 semapv:UnspecifiedMatching DOID:1307 dementia oboInOwl:hasDbXref UMLS_CUI:C0154319 semapv:UnspecifiedMatching -DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref NCI:C34746 semapv:UnspecifiedMatching DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref ICD9CM:701.1 semapv:UnspecifiedMatching +DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref NCI:C34746 semapv:UnspecifiedMatching DOID:13072 acquired hyperkeratosis oboInOwl:hasDbXref UMLS_CUI:C0022581 semapv:UnspecifiedMatching -DOID:13074 tinea unguium oboInOwl:hasDbXref UMLS_CUI:C0007644 semapv:UnspecifiedMatching DOID:13074 tinea unguium oboInOwl:hasDbXref ICD9CM:681.9 semapv:UnspecifiedMatching -DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref UMLS_CUI:C0024449 semapv:UnspecifiedMatching +DOID:13074 tinea unguium oboInOwl:hasDbXref UMLS_CUI:C0007644 semapv:UnspecifiedMatching DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref NCI:C85505 semapv:UnspecifiedMatching +DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref UMLS_CUI:C0024449 semapv:UnspecifiedMatching DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref ICD10CM:B47 semapv:UnspecifiedMatching DOID:13078 eumycotic mycetoma oboInOwl:hasDbXref MESH:D008271 semapv:UnspecifiedMatching DOID:13080 Jaccoud's syndrome oboInOwl:hasDbXref ICD10CM:M12.0 semapv:UnspecifiedMatching @@ -16680,27 +16706,27 @@ DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MESH:D008151 semapv:Un DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref OMIM:108950 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ORDO:844 semapv:UnspecifiedMatching DOID:13087 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref UMLS_CUI:C0024054 semapv:UnspecifiedMatching -DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD10CM:P91.2 semapv:UnspecifiedMatching -DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref UMLS_CUI:C0023529 semapv:UnspecifiedMatching +DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref MESH:D007969 semapv:UnspecifiedMatching +DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD9CM:779.7 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref NCI:C99013 semapv:UnspecifiedMatching DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref GARD:10285 semapv:UnspecifiedMatching -DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD9CM:779.7 semapv:UnspecifiedMatching -DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref MESH:D007969 semapv:UnspecifiedMatching -DOID:13089 intracranial arterial disease oboInOwl:hasDbXref MESH:D020765 semapv:UnspecifiedMatching +DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref ICD10CM:P91.2 semapv:UnspecifiedMatching +DOID:13088 periventricular leukomalacia oboInOwl:hasDbXref UMLS_CUI:C0023529 semapv:UnspecifiedMatching DOID:13089 intracranial arterial disease oboInOwl:hasDbXref UMLS_CUI:C0752138 semapv:UnspecifiedMatching -DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref NCI:C34436 semapv:UnspecifiedMatching +DOID:13089 intracranial arterial disease oboInOwl:hasDbXref MESH:D020765 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref ICD10CM:H34.23 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref ICD9CM:362.32 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching +DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref NCI:C34436 semapv:UnspecifiedMatching DOID:13094 branch retinal artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0006123 semapv:UnspecifiedMatching DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching DOID:13095 vertebral artery insufficiency oboInOwl:hasDbXref UMLS_CUI:C0042560 semapv:UnspecifiedMatching -DOID:13096 Sneddon syndrome oboInOwl:hasDbXref UMLS_CUI:C0282492 semapv:UnspecifiedMatching -DOID:13096 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref GARD:7664 semapv:UnspecifiedMatching DOID:13096 Sneddon syndrome oboInOwl:hasDbXref MESH:D018860 semapv:UnspecifiedMatching -DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching +DOID:13096 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching +DOID:13096 Sneddon syndrome oboInOwl:hasDbXref UMLS_CUI:C0282492 semapv:UnspecifiedMatching DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref UMLS_CUI:C0007771 semapv:UnspecifiedMatching +DOID:13097 intracranial arteriosclerosis oboInOwl:hasDbXref MESH:D002537 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref ICD10CM:H34.1 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref ICD9CM:362.31 semapv:UnspecifiedMatching DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching @@ -16708,191 +16734,192 @@ DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref NCI:C34456 semapv DOID:13098 central retinal artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0007688 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease skos:exactMatch MESH:D009072 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref UMLS_CUI:C0026654 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:401945 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:280679 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:2573 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:615750 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:614042 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:608796 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref ORDO:401945 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:300845 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:252350 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref NCI:C84895 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref MESH:D009072 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD9CM:437.5 semapv:UnspecifiedMatching -DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD10CM:I67.5 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref GARD:7064 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD10CM:I67.5 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref ICD9CM:437.5 semapv:UnspecifiedMatching DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:607151 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref NCI:C84895 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref OMIM:252350 semapv:UnspecifiedMatching +DOID:13099 Moyamoya disease oboInOwl:hasDbXref MESH:D009072 semapv:UnspecifiedMatching DOID:13100 intracranial vasospasm oboInOwl:hasDbXref MESH:D020301 semapv:UnspecifiedMatching DOID:13100 intracranial vasospasm oboInOwl:hasDbXref UMLS_CUI:C0751895 semapv:UnspecifiedMatching DOID:13109 bladder leiomyoma oboInOwl:hasDbXref NCI:C6178 semapv:UnspecifiedMatching DOID:13109 bladder leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1332560 semapv:UnspecifiedMatching DOID:13110 bladder squamous papilloma oboInOwl:hasDbXref NCI:C39834 semapv:UnspecifiedMatching DOID:13110 bladder squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1511199 semapv:UnspecifiedMatching -DOID:13112 mechanical entropion oboInOwl:hasDbXref UMLS_CUI:C0155189 semapv:UnspecifiedMatching DOID:13112 mechanical entropion oboInOwl:hasDbXref ICD9CM:374.02 semapv:UnspecifiedMatching -DOID:13113 cicatricial entropion oboInOwl:hasDbXref UMLS_CUI:C0155191 semapv:UnspecifiedMatching +DOID:13112 mechanical entropion oboInOwl:hasDbXref UMLS_CUI:C0155189 semapv:UnspecifiedMatching DOID:13113 cicatricial entropion oboInOwl:hasDbXref ICD9CM:374.04 semapv:UnspecifiedMatching -DOID:13117 paronychia oboInOwl:hasDbXref ICD10CM:L03.0 semapv:UnspecifiedMatching -DOID:13117 paronychia oboInOwl:hasDbXref MESH:D010304 semapv:UnspecifiedMatching -DOID:13117 paronychia oboInOwl:hasDbXref NCI:C79702 semapv:UnspecifiedMatching +DOID:13113 cicatricial entropion oboInOwl:hasDbXref UMLS_CUI:C0155191 semapv:UnspecifiedMatching DOID:13117 paronychia oboInOwl:hasDbXref UMLS_CUI:C0030578 semapv:UnspecifiedMatching +DOID:13117 paronychia oboInOwl:hasDbXref NCI:C79702 semapv:UnspecifiedMatching +DOID:13117 paronychia oboInOwl:hasDbXref MESH:D010304 semapv:UnspecifiedMatching +DOID:13117 paronychia oboInOwl:hasDbXref ICD10CM:L03.0 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref EFO:0004236 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref GARD:6517 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref MESH:D005923 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref NCI:C37308 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref OMIMPS:603278 semapv:UnspecifiedMatching DOID:1312 focal segmental glomerulosclerosis oboInOwl:hasDbXref UMLS_CUI:C0017668 semapv:UnspecifiedMatching -DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD10CM:D53.0 semapv:UnspecifiedMatching DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD9CM:281.4 semapv:UnspecifiedMatching +DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref ICD10CM:D53.0 semapv:UnspecifiedMatching DOID:13120 protein-deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0154290 semapv:UnspecifiedMatching -DOID:13121 deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0041782 semapv:UnspecifiedMatching DOID:13121 deficiency anemia oboInOwl:hasDbXref ICD9CM:281.9 semapv:UnspecifiedMatching +DOID:13121 deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0041782 semapv:UnspecifiedMatching DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref ICD9CM:098.53 semapv:UnspecifiedMatching DOID:13127 gonococcal spondylitis oboInOwl:hasDbXref UMLS_CUI:C0153219 semapv:UnspecifiedMatching DOID:13129 severe pre-eclampsia oboInOwl:hasDbXref ICD9CM:642.50 semapv:UnspecifiedMatching DOID:13129 severe pre-eclampsia oboInOwl:hasDbXref UMLS_CUI:C0156669 semapv:UnspecifiedMatching +DOID:13133 HELLP syndrome oboInOwl:hasDbXref UMLS_CUI:C0162739 semapv:UnspecifiedMatching +DOID:13133 HELLP syndrome oboInOwl:hasDbXref NCI:C84750 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref GARD:8528 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref ICD10CM:O14.2 semapv:UnspecifiedMatching DOID:13133 HELLP syndrome oboInOwl:hasDbXref MESH:D017359 semapv:UnspecifiedMatching -DOID:13133 HELLP syndrome oboInOwl:hasDbXref NCI:C84750 semapv:UnspecifiedMatching -DOID:13133 HELLP syndrome oboInOwl:hasDbXref UMLS_CUI:C0162739 semapv:UnspecifiedMatching DOID:13134 hordeolum externum oboInOwl:hasDbXref ICD10CM:H00.01 semapv:UnspecifiedMatching DOID:13134 hordeolum externum oboInOwl:hasDbXref ICD9CM:373.11 semapv:UnspecifiedMatching DOID:13134 hordeolum externum oboInOwl:hasDbXref UMLS_CUI:C0019919 semapv:UnspecifiedMatching -DOID:13135 exophthalmic ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152135 semapv:UnspecifiedMatching DOID:13135 exophthalmic ophthalmoplegia oboInOwl:hasDbXref ICD9CM:376.22 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref UMLS_CUI:C0043116 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref NCI:C98670 semapv:UnspecifiedMatching +DOID:13135 exophthalmic ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152135 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref GARD:7883 semapv:UnspecifiedMatching -DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD9CM:335.0 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD10CM:G12.0 semapv:UnspecifiedMatching +DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref ICD9CM:335.0 semapv:UnspecifiedMatching DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref MESH:D014897 semapv:UnspecifiedMatching -DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref ICD9CM:580.0 semapv:UnspecifiedMatching +DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref NCI:C98670 semapv:UnspecifiedMatching +DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref OMIM:253300 semapv:UnspecifiedMatching +DOID:13137 Werdnig-Hoffmann disease oboInOwl:hasDbXref UMLS_CUI:C0043116 semapv:UnspecifiedMatching DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0341692 semapv:UnspecifiedMatching -DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref NCI:C128143 semapv:UnspecifiedMatching +DOID:13138 acute proliferative glomerulonephritis oboInOwl:hasDbXref ICD9CM:580.0 semapv:UnspecifiedMatching DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0403416 semapv:UnspecifiedMatching +DOID:13139 crescentic glomerulonephritis oboInOwl:hasDbXref NCI:C128143 semapv:UnspecifiedMatching DOID:13140 suppurative uveitis oboInOwl:hasDbXref MESH:D015829 semapv:UnspecifiedMatching DOID:13140 suppurative uveitis oboInOwl:hasDbXref UMLS_CUI:C0042168 semapv:UnspecifiedMatching -DOID:13141 uveitis oboInOwl:hasDbXref NCI:C26909 semapv:UnspecifiedMatching -DOID:13141 uveitis oboInOwl:hasDbXref UMLS_CUI:C0042164 semapv:UnspecifiedMatching DOID:13141 uveitis oboInOwl:hasDbXref ICD10CM:H20.9 semapv:UnspecifiedMatching DOID:13141 uveitis oboInOwl:hasDbXref MESH:D014605 semapv:UnspecifiedMatching +DOID:13141 uveitis oboInOwl:hasDbXref NCI:C26909 semapv:UnspecifiedMatching +DOID:13141 uveitis oboInOwl:hasDbXref UMLS_CUI:C0042164 semapv:UnspecifiedMatching DOID:13143 benign secondary hypertension oboInOwl:hasDbXref ICD9CM:405.1 semapv:UnspecifiedMatching DOID:13143 benign secondary hypertension oboInOwl:hasDbXref NCI:C3658 semapv:UnspecifiedMatching DOID:13143 benign secondary hypertension oboInOwl:hasDbXref UMLS_CUI:C0155620 semapv:UnspecifiedMatching DOID:13145 benign renovascular hypertension oboInOwl:hasDbXref ICD9CM:405.11 semapv:UnspecifiedMatching DOID:13145 benign renovascular hypertension oboInOwl:hasDbXref UMLS_CUI:C0155621 semapv:UnspecifiedMatching -DOID:13146 esophageal candidiasis oboInOwl:hasDbXref ICD10CM:B37.81 semapv:UnspecifiedMatching -DOID:13146 esophageal candidiasis oboInOwl:hasDbXref ICD9CM:112.84 semapv:UnspecifiedMatching DOID:13146 esophageal candidiasis oboInOwl:hasDbXref NCI:C27027 semapv:UnspecifiedMatching DOID:13146 esophageal candidiasis oboInOwl:hasDbXref UMLS_CUI:C0239295 semapv:UnspecifiedMatching -DOID:13147 fungal esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341109 semapv:UnspecifiedMatching +DOID:13146 esophageal candidiasis oboInOwl:hasDbXref ICD9CM:112.84 semapv:UnspecifiedMatching +DOID:13146 esophageal candidiasis oboInOwl:hasDbXref ICD10CM:B37.81 semapv:UnspecifiedMatching DOID:13147 fungal esophagitis oboInOwl:hasDbXref NCI:C27107 semapv:UnspecifiedMatching -DOID:13148 acute cystitis oboInOwl:hasDbXref NCI:C26934 semapv:UnspecifiedMatching -DOID:13148 acute cystitis oboInOwl:hasDbXref UMLS_CUI:C0149523 semapv:UnspecifiedMatching +DOID:13147 fungal esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341109 semapv:UnspecifiedMatching DOID:13148 acute cystitis oboInOwl:hasDbXref ICD10CM:N30.0 semapv:UnspecifiedMatching DOID:13148 acute cystitis oboInOwl:hasDbXref ICD9CM:595.0 semapv:UnspecifiedMatching +DOID:13148 acute cystitis oboInOwl:hasDbXref NCI:C26934 semapv:UnspecifiedMatching +DOID:13148 acute cystitis oboInOwl:hasDbXref UMLS_CUI:C0149523 semapv:UnspecifiedMatching DOID:13159 scrotum squamous cell carcinoma oboInOwl:hasDbXref NCI:C4643 semapv:UnspecifiedMatching DOID:13159 scrotum squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349551 semapv:UnspecifiedMatching DOID:13160 scrotum melanoma oboInOwl:hasDbXref NCI:C7361 semapv:UnspecifiedMatching DOID:13160 scrotum melanoma oboInOwl:hasDbXref UMLS_CUI:C1331544 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref GARD:602 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10CM:B44.81 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD9CM:518.6 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref MESH:D001229 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref NCI:C84547 semapv:UnspecifiedMatching -DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 semapv:UnspecifiedMatching DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref UMLS_CUI:C0004031 semapv:UnspecifiedMatching -DOID:13168 prepuce cancer oboInOwl:hasDbXref UMLS_CUI:C0153598 semapv:UnspecifiedMatching -DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD9CM:187.1 semapv:UnspecifiedMatching +DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref OMIM:103920 semapv:UnspecifiedMatching +DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref NCI:C84547 semapv:UnspecifiedMatching +DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD10CM:B44.81 semapv:UnspecifiedMatching +DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref GARD:602 semapv:UnspecifiedMatching +DOID:13166 allergic bronchopulmonary aspergillosis oboInOwl:hasDbXref ICD9CM:518.6 semapv:UnspecifiedMatching DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD10CM:C60.0 semapv:UnspecifiedMatching +DOID:13168 prepuce cancer oboInOwl:hasDbXref ICD9CM:187.1 semapv:UnspecifiedMatching +DOID:13168 prepuce cancer oboInOwl:hasDbXref UMLS_CUI:C0153598 semapv:UnspecifiedMatching +DOID:13169 spermatic cord cancer oboInOwl:hasDbXref UMLS_CUI:C0153603 semapv:UnspecifiedMatching DOID:13169 spermatic cord cancer oboInOwl:hasDbXref ICD10CM:C63.1 semapv:UnspecifiedMatching DOID:13169 spermatic cord cancer oboInOwl:hasDbXref ICD9CM:187.6 semapv:UnspecifiedMatching DOID:13169 spermatic cord cancer oboInOwl:hasDbXref NCI:C3559 semapv:UnspecifiedMatching -DOID:13169 spermatic cord cancer oboInOwl:hasDbXref UMLS_CUI:C0153603 semapv:UnspecifiedMatching -DOID:13174 dissociated nystagmus oboInOwl:hasDbXref ICD10CM:H55.04 semapv:UnspecifiedMatching -DOID:13174 dissociated nystagmus oboInOwl:hasDbXref ICD9CM:379.55 semapv:UnspecifiedMatching DOID:13174 dissociated nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching DOID:13174 dissociated nystagmus oboInOwl:hasDbXref UMLS_CUI:C0155380 semapv:UnspecifiedMatching -DOID:13185 esophageal diverticulosis oboInOwl:hasDbXref MESH:D045723 semapv:UnspecifiedMatching +DOID:13174 dissociated nystagmus oboInOwl:hasDbXref ICD10CM:H55.04 semapv:UnspecifiedMatching +DOID:13174 dissociated nystagmus oboInOwl:hasDbXref ICD9CM:379.55 semapv:UnspecifiedMatching DOID:13185 esophageal diverticulosis oboInOwl:hasDbXref UMLS_CUI:C0917875 semapv:UnspecifiedMatching -DOID:13186 megaesophagus oboInOwl:hasDbXref UMLS_CUI:C0025164 semapv:UnspecifiedMatching +DOID:13185 esophageal diverticulosis oboInOwl:hasDbXref MESH:D045723 semapv:UnspecifiedMatching DOID:13186 megaesophagus oboInOwl:hasDbXref MESH:D004931 semapv:UnspecifiedMatching DOID:13186 megaesophagus oboInOwl:hasDbXref NCI:C34811 semapv:UnspecifiedMatching -DOID:13189 gout oboInOwl:hasDbXref NCI:C34650 semapv:UnspecifiedMatching -DOID:13189 gout oboInOwl:hasDbXref ICD9CM:274.0 semapv:UnspecifiedMatching +DOID:13186 megaesophagus oboInOwl:hasDbXref UMLS_CUI:C0025164 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref UMLS_CUI:C0018099 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref UMLS_CUI:C0003868 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref MESH:D015210 semapv:UnspecifiedMatching -DOID:13189 gout oboInOwl:hasDbXref ICD9CM:274 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref MESH:D006073 semapv:UnspecifiedMatching +DOID:13189 gout oboInOwl:hasDbXref NCI:C34650 semapv:UnspecifiedMatching +DOID:13189 gout oboInOwl:hasDbXref ICD9CM:274 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref ICD10CM:M10 semapv:UnspecifiedMatching DOID:13189 gout oboInOwl:hasDbXref EFO:0004274 semapv:UnspecifiedMatching +DOID:13189 gout oboInOwl:hasDbXref ICD9CM:274.0 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0006118 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C1334557 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0750979 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0750974 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0220624 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0006118 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C7710 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C5115 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref UMLS_CUI:C0153633 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C7710 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref MESH:D001932 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C3568 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C2907 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C170814 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref MESH:D001932 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref ICD9CM:239.6 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref ICD9CM:191 semapv:UnspecifiedMatching DOID:1319 brain cancer oboInOwl:hasDbXref ICD10CM:C71 semapv:UnspecifiedMatching -DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C3568 semapv:UnspecifiedMatching +DOID:1319 brain cancer oboInOwl:hasDbXref NCI:C5115 semapv:UnspecifiedMatching DOID:13195 nontoxic goiter oboInOwl:hasDbXref UMLS_CUI:C0221777 semapv:UnspecifiedMatching -DOID:13195 nontoxic goiter oboInOwl:hasDbXref NCI:C35271 semapv:UnspecifiedMatching DOID:13195 nontoxic goiter oboInOwl:hasDbXref ICD10CM:E04.9 semapv:UnspecifiedMatching -DOID:13196 lingual goiter oboInOwl:hasDbXref MESH:D047268 semapv:UnspecifiedMatching +DOID:13195 nontoxic goiter oboInOwl:hasDbXref NCI:C35271 semapv:UnspecifiedMatching DOID:13196 lingual goiter oboInOwl:hasDbXref UMLS_CUI:C0271760 semapv:UnspecifiedMatching +DOID:13196 lingual goiter oboInOwl:hasDbXref MESH:D047268 semapv:UnspecifiedMatching DOID:13197 nodular goiter oboInOwl:hasDbXref MESH:D006044 semapv:UnspecifiedMatching DOID:13197 nodular goiter oboInOwl:hasDbXref NCI:C131437 semapv:UnspecifiedMatching DOID:13197 nodular goiter oboInOwl:hasDbXref UMLS_CUI:C0018023 semapv:UnspecifiedMatching -DOID:13198 endemic goiter oboInOwl:hasDbXref NCI:C35023 semapv:UnspecifiedMatching -DOID:13198 endemic goiter oboInOwl:hasDbXref MESH:D006043 semapv:UnspecifiedMatching -DOID:13198 endemic goiter oboInOwl:hasDbXref UMLS_CUI:C0018022 semapv:UnspecifiedMatching DOID:13198 endemic goiter oboInOwl:hasDbXref ICD10CM:E01.2 semapv:UnspecifiedMatching DOID:13198 endemic goiter oboInOwl:hasDbXref ICD9CM:240.0 semapv:UnspecifiedMatching +DOID:13198 endemic goiter oboInOwl:hasDbXref MESH:D006043 semapv:UnspecifiedMatching +DOID:13198 endemic goiter oboInOwl:hasDbXref NCI:C35023 semapv:UnspecifiedMatching +DOID:13198 endemic goiter oboInOwl:hasDbXref UMLS_CUI:C0018022 semapv:UnspecifiedMatching DOID:13200 substernal goiter oboInOwl:hasDbXref MESH:D006045 semapv:UnspecifiedMatching DOID:13200 substernal goiter oboInOwl:hasDbXref UMLS_CUI:C0018024 semapv:UnspecifiedMatching DOID:13206 nodular prostate oboInOwl:hasDbXref ICD10CM:N40 semapv:UnspecifiedMatching DOID:13206 nodular prostate oboInOwl:hasDbXref ICD9CM:600.1 semapv:UnspecifiedMatching DOID:13206 nodular prostate oboInOwl:hasDbXref UMLS_CUI:C0748012 semapv:UnspecifiedMatching -DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.02 semapv:UnspecifiedMatching -DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref NCI:C84457 semapv:UnspecifiedMatching DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0154830 semapv:UnspecifiedMatching +DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref NCI:C84457 semapv:UnspecifiedMatching +DOID:13207 proliferative diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.02 semapv:UnspecifiedMatching DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.03 semapv:UnspecifiedMatching DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref NCI:C35668 semapv:UnspecifiedMatching DOID:13208 background diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0004606 semapv:UnspecifiedMatching DOID:13209 right bundle branch block oboInOwl:hasDbXref ICD9CM:426.51 semapv:UnspecifiedMatching DOID:13209 right bundle branch block oboInOwl:hasDbXref UMLS_CUI:C0155704 semapv:UnspecifiedMatching -DOID:13214 hole retinal cyst oboInOwl:hasDbXref UMLS_CUI:C1261331 semapv:UnspecifiedMatching DOID:13214 hole retinal cyst oboInOwl:hasDbXref ICD10CM:H35.34 semapv:UnspecifiedMatching DOID:13214 hole retinal cyst oboInOwl:hasDbXref ICD9CM:362.54 semapv:UnspecifiedMatching +DOID:13214 hole retinal cyst oboInOwl:hasDbXref UMLS_CUI:C1261331 semapv:UnspecifiedMatching DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref ICD10CM:D25.0 semapv:UnspecifiedMatching DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref ICD9CM:218.0 semapv:UnspecifiedMatching DOID:13222 submucous uterine fibroid oboInOwl:hasDbXref UMLS_CUI:C0153993 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref EFO:0000731 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD10CM:D25 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD9CM:218 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref MESH:D007889 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref NCI:C3434 semapv:UnspecifiedMatching -DOID:13223 uterine fibroid oboInOwl:hasDbXref OMIM:150699 semapv:UnspecifiedMatching DOID:13223 uterine fibroid oboInOwl:hasDbXref UMLS_CUI:C0042133 semapv:UnspecifiedMatching -DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref UMLS_CUI:C0152944 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref OMIM:150699 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref NCI:C3434 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref MESH:D007889 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD9CM:218 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref ICD10CM:D25 semapv:UnspecifiedMatching +DOID:13223 uterine fibroid oboInOwl:hasDbXref EFO:0000731 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref ICD10CM:A21.1 semapv:UnspecifiedMatching DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref ICD9CM:021.3 semapv:UnspecifiedMatching -DOID:13227 retinal dystrophies primarily involving Bruch's membrane oboInOwl:hasDbXref UMLS_CUI:C0154866 semapv:UnspecifiedMatching +DOID:13226 oculoglandular tularemia oboInOwl:hasDbXref UMLS_CUI:C0152944 semapv:UnspecifiedMatching DOID:13227 retinal dystrophies primarily involving Bruch's membrane oboInOwl:hasDbXref ICD9CM:362.77 semapv:UnspecifiedMatching -DOID:13238 Haverhill fever oboInOwl:hasDbXref ICD10CM:A25.1 semapv:UnspecifiedMatching +DOID:13227 retinal dystrophies primarily involving Bruch's membrane oboInOwl:hasDbXref UMLS_CUI:C0154866 semapv:UnspecifiedMatching DOID:13238 Haverhill fever oboInOwl:hasDbXref ICD9CM:026.1 semapv:UnspecifiedMatching DOID:13238 Haverhill fever oboInOwl:hasDbXref UMLS_CUI:C0152063 semapv:UnspecifiedMatching +DOID:13238 Haverhill fever oboInOwl:hasDbXref ICD10CM:A25.1 semapv:UnspecifiedMatching DOID:13239 internal pathological resorption oboInOwl:hasDbXref ICD9CM:521.41 semapv:UnspecifiedMatching DOID:13239 internal pathological resorption oboInOwl:hasDbXref UMLS_CUI:C1456167 semapv:UnspecifiedMatching +DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612571 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0153493 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0153492 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0153491 semapv:UnspecifiedMatching @@ -16900,137 +16927,137 @@ DOID:1324 lung cancer oboInOwl:hasDbXref UMLS_CUI:C0024624 semapv:UnspecifiedMat DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:614210 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612593 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:608935 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:612571 semapv:UnspecifiedMatching +DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.3 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.8 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.5 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.4 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD9CM:162.3 semapv:UnspecifiedMatching -DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.3 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.2 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref ICD10CM:C34.1 semapv:UnspecifiedMatching DOID:1324 lung cancer oboInOwl:hasDbXref OMIM:211980 semapv:UnspecifiedMatching DOID:13240 tooth resorption skos:exactMatch MESH:D014091 semapv:UnspecifiedMatching DOID:13240 tooth resorption oboInOwl:hasDbXref UMLS_CUI:C0040451 semapv:UnspecifiedMatching -DOID:13240 tooth resorption oboInOwl:hasDbXref ICD10CM:K03.3 semapv:UnspecifiedMatching DOID:13240 tooth resorption oboInOwl:hasDbXref ICD9CM:521.4 semapv:UnspecifiedMatching +DOID:13240 tooth resorption oboInOwl:hasDbXref ICD10CM:K03.3 semapv:UnspecifiedMatching DOID:13240 tooth resorption oboInOwl:hasDbXref MESH:D014091 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref NCI:C34416 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref UMLS_CUI:C0004943 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching +DOID:13241 Behcet's disease oboInOwl:hasDbXref EFO:0003780 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref GARD:848 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref ICD10CM:M35.2 semapv:UnspecifiedMatching DOID:13241 Behcet's disease oboInOwl:hasDbXref ICD9CM:136.1 semapv:UnspecifiedMatching -DOID:13241 Behcet's disease oboInOwl:hasDbXref EFO:0003780 semapv:UnspecifiedMatching +DOID:13241 Behcet's disease oboInOwl:hasDbXref MESH:D001528 semapv:UnspecifiedMatching +DOID:13241 Behcet's disease oboInOwl:hasDbXref NCI:C34416 semapv:UnspecifiedMatching +DOID:13241 Behcet's disease oboInOwl:hasDbXref OMIM:109650 semapv:UnspecifiedMatching +DOID:13241 Behcet's disease oboInOwl:hasDbXref UMLS_CUI:C0004943 semapv:UnspecifiedMatching DOID:13248 mucocele of appendix oboInOwl:hasDbXref NCI:C3241 semapv:UnspecifiedMatching DOID:13248 mucocele of appendix oboInOwl:hasDbXref UMLS_CUI:C0026684 semapv:UnspecifiedMatching DOID:13249 pneumatosis cystoides intestinalis oboInOwl:hasDbXref MESH:D011006 semapv:UnspecifiedMatching DOID:13249 pneumatosis cystoides intestinalis oboInOwl:hasDbXref UMLS_CUI:C0032266 semapv:UnspecifiedMatching +DOID:1325 bronchus cancer oboInOwl:hasDbXref UMLS_CUI:C0348343 semapv:UnspecifiedMatching DOID:1325 bronchus cancer oboInOwl:hasDbXref ICD10CM:C34 semapv:UnspecifiedMatching DOID:1325 bronchus cancer oboInOwl:hasDbXref ICD9CM:162.9 semapv:UnspecifiedMatching -DOID:1325 bronchus cancer oboInOwl:hasDbXref UMLS_CUI:C0348343 semapv:UnspecifiedMatching +DOID:13250 diarrhea oboInOwl:hasDbXref ICD9CM:009.2 semapv:UnspecifiedMatching DOID:13250 diarrhea oboInOwl:hasDbXref MESH:D004403 semapv:UnspecifiedMatching DOID:13250 diarrhea oboInOwl:hasDbXref UMLS_CUI:C0013369 semapv:UnspecifiedMatching -DOID:13250 diarrhea oboInOwl:hasDbXref ICD9CM:009.2 semapv:UnspecifiedMatching DOID:13252 mesenteric vascular occlusion oboInOwl:hasDbXref MESH:D008641 semapv:UnspecifiedMatching DOID:13252 mesenteric vascular occlusion oboInOwl:hasDbXref UMLS_CUI:C0025472 semapv:UnspecifiedMatching DOID:13254 diverticulitis of colon oboInOwl:hasDbXref MESH:D004239 semapv:UnspecifiedMatching DOID:13254 diverticulitis of colon oboInOwl:hasDbXref UMLS_CUI:C0012814 semapv:UnspecifiedMatching -DOID:13258 typhoid fever oboInOwl:hasDbXref GARD:9564 semapv:UnspecifiedMatching -DOID:13258 typhoid fever oboInOwl:hasDbXref ICD10CM:A01.0 semapv:UnspecifiedMatching -DOID:13258 typhoid fever oboInOwl:hasDbXref ICD9CM:002.0 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref MESH:D014435 semapv:UnspecifiedMatching +DOID:13258 typhoid fever oboInOwl:hasDbXref ICD9CM:002.0 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref NCI:C35089 semapv:UnspecifiedMatching +DOID:13258 typhoid fever oboInOwl:hasDbXref GARD:9564 semapv:UnspecifiedMatching +DOID:13258 typhoid fever oboInOwl:hasDbXref ICD10CM:A01.0 semapv:UnspecifiedMatching DOID:13258 typhoid fever oboInOwl:hasDbXref UMLS_CUI:C0041466 semapv:UnspecifiedMatching -DOID:13268 porphyria oboInOwl:hasDbXref MESH:D011164 semapv:UnspecifiedMatching -DOID:13268 porphyria oboInOwl:hasDbXref ICD9CM:277.1 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref NCI:C97096 semapv:UnspecifiedMatching +DOID:13268 porphyria oboInOwl:hasDbXref UMLS_CUI:C0032708 semapv:UnspecifiedMatching +DOID:13268 porphyria oboInOwl:hasDbXref MESH:D011164 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref GARD:10353 semapv:UnspecifiedMatching DOID:13268 porphyria oboInOwl:hasDbXref ICD10CM:E80.20 semapv:UnspecifiedMatching -DOID:13268 porphyria oboInOwl:hasDbXref UMLS_CUI:C0032708 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref UMLS_CUI:C0162531 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref NCI:C84759 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching -DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref ICD10CM:E80.29 semapv:UnspecifiedMatching +DOID:13268 porphyria oboInOwl:hasDbXref ICD9CM:277.1 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref GARD:6619 semapv:UnspecifiedMatching +DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref ICD10CM:E80.29 semapv:UnspecifiedMatching DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref MESH:D046349 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref GARD:4527 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching +DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref NCI:C84759 semapv:UnspecifiedMatching +DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref OMIM:121300 semapv:UnspecifiedMatching +DOID:13269 hereditary coproporphyria oboInOwl:hasDbXref UMLS_CUI:C0162531 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref UMLS_CUI:C0162568 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ORDO:79278 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref MESH:D046351 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching +DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref GARD:4527 semapv:UnspecifiedMatching DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref NCI:C84698 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:177000 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref OMIM:300752 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref ORDO:79278 semapv:UnspecifiedMatching -DOID:13270 erythropoietic protoporphyria oboInOwl:hasDbXref UMLS_CUI:C0162568 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria oboInOwl:hasDbXref GARD:4446 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching -DOID:13271 cutaneous porphyria oboInOwl:hasDbXref NCI:C84697 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref OMIM:263700 semapv:UnspecifiedMatching DOID:13271 cutaneous porphyria oboInOwl:hasDbXref UMLS_CUI:C0162530 semapv:UnspecifiedMatching +DOID:13271 cutaneous porphyria oboInOwl:hasDbXref NCI:C84697 semapv:UnspecifiedMatching +DOID:13271 cutaneous porphyria oboInOwl:hasDbXref ICD10CM:E80.0 semapv:UnspecifiedMatching +DOID:13271 cutaneous porphyria oboInOwl:hasDbXref GARD:4446 semapv:UnspecifiedMatching +DOID:13271 cutaneous porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching +DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD10CM:J15.0 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD9CM:482.0 semapv:UnspecifiedMatching DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref MESH:D007710 semapv:UnspecifiedMatching -DOID:13272 Klebsiella pneumonia oboInOwl:hasDbXref ICD10CM:J15.0 semapv:UnspecifiedMatching DOID:13276 Mycoplasma pneumoniae pneumonia oboInOwl:hasDbXref ICD10CM:J15.7 semapv:UnspecifiedMatching DOID:13276 Mycoplasma pneumoniae pneumonia oboInOwl:hasDbXref ICD9CM:483.0 semapv:UnspecifiedMatching DOID:13276 Mycoplasma pneumoniae pneumonia oboInOwl:hasDbXref MESH:D011019 semapv:UnspecifiedMatching +DOID:1328 Rift Valley fever oboInOwl:hasDbXref UMLS_CUI:C0035613 semapv:UnspecifiedMatching DOID:1328 Rift Valley fever oboInOwl:hasDbXref ICD10CM:A92.4 semapv:UnspecifiedMatching DOID:1328 Rift Valley fever oboInOwl:hasDbXref MESH:D012295 semapv:UnspecifiedMatching DOID:1328 Rift Valley fever oboInOwl:hasDbXref NCI:C128419 semapv:UnspecifiedMatching -DOID:1328 Rift Valley fever oboInOwl:hasDbXref UMLS_CUI:C0035613 semapv:UnspecifiedMatching -DOID:13282 intestinal tuberculosis oboInOwl:hasDbXref ICD9CM:014.8 semapv:UnspecifiedMatching DOID:13282 intestinal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152724 semapv:UnspecifiedMatching +DOID:13282 intestinal tuberculosis oboInOwl:hasDbXref ICD9CM:014.8 semapv:UnspecifiedMatching DOID:13295 crater-like holes of optic disc oboInOwl:hasDbXref ICD9CM:377.22 semapv:UnspecifiedMatching DOID:13295 crater-like holes of optic disc oboInOwl:hasDbXref UMLS_CUI:C0155298 semapv:UnspecifiedMatching DOID:133 vaginal Mullerian papilloma oboInOwl:hasDbXref NCI:C40255 semapv:UnspecifiedMatching DOID:133 vaginal Mullerian papilloma oboInOwl:hasDbXref UMLS_CUI:C1519926 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease oboInOwl:hasDbXref OMIM:181440 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease oboInOwl:hasDbXref UMLS_CUI:C0036310 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease oboInOwl:hasDbXref NCI:C34999 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref GARD:7610 semapv:UnspecifiedMatching -DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD9CM:732.0 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD10CM:M42.0 semapv:UnspecifiedMatching +DOID:13300 Scheuermann's disease oboInOwl:hasDbXref ICD9CM:732.0 semapv:UnspecifiedMatching DOID:13300 Scheuermann's disease oboInOwl:hasDbXref MESH:D012544 semapv:UnspecifiedMatching +DOID:13300 Scheuermann's disease oboInOwl:hasDbXref NCI:C34999 semapv:UnspecifiedMatching +DOID:13300 Scheuermann's disease oboInOwl:hasDbXref OMIM:181440 semapv:UnspecifiedMatching +DOID:13300 Scheuermann's disease oboInOwl:hasDbXref UMLS_CUI:C0036310 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref ICD10CM:A36.85 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref ICD9CM:032.84 semapv:UnspecifiedMatching DOID:13306 diphtheritic cystitis oboInOwl:hasDbXref UMLS_CUI:C0152954 semapv:UnspecifiedMatching +DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref UMLS_CUI:C0152953 semapv:UnspecifiedMatching DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref ICD10CM:A36.89 semapv:UnspecifiedMatching DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref ICD9CM:032.83 semapv:UnspecifiedMatching -DOID:13310 diphtheritic peritonitis oboInOwl:hasDbXref UMLS_CUI:C0152953 semapv:UnspecifiedMatching DOID:13313 pancreatic mucinous ductal ectasia oboInOwl:hasDbXref NCI:C5717 semapv:UnspecifiedMatching DOID:13313 pancreatic mucinous ductal ectasia oboInOwl:hasDbXref UMLS_CUI:C1335310 semapv:UnspecifiedMatching -DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref UMLS_CUI:C0267963 semapv:UnspecifiedMatching -DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref NCI:C84316 semapv:UnspecifiedMatching DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref ICD10CM:K86.81 semapv:UnspecifiedMatching DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref MESH:D010188 semapv:UnspecifiedMatching +DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref NCI:C84316 semapv:UnspecifiedMatching +DOID:13316 exocrine pancreatic insufficiency oboInOwl:hasDbXref UMLS_CUI:C0267963 semapv:UnspecifiedMatching +DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref UMLS_CUI:C0027773 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref ICD10CM:E16.9 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref MESH:D046768 semapv:UnspecifiedMatching DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref NCI:C4375 semapv:UnspecifiedMatching -DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref UMLS_CUI:C0027773 semapv:UnspecifiedMatching -DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.43 semapv:UnspecifiedMatching +DOID:13317 hyperinsulinemic hypoglycemia oboInOwl:hasDbXref OMIMPS:256450 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD9CM:372.12 semapv:UnspecifiedMatching DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155147 semapv:UnspecifiedMatching +DOID:13326 chronic follicular conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.43 semapv:UnspecifiedMatching DOID:13327 anatomical narrow angle borderline glaucoma oboInOwl:hasDbXref ICD9CM:365.02 semapv:UnspecifiedMatching DOID:13327 anatomical narrow angle borderline glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154941 semapv:UnspecifiedMatching DOID:13328 diabetic cataract oboInOwl:hasDbXref ICD9CM:366.41 semapv:UnspecifiedMatching DOID:13328 diabetic cataract oboInOwl:hasDbXref UMLS_CUI:C0011876 semapv:UnspecifiedMatching -DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155303 semapv:UnspecifiedMatching -DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref MESH:D000081028 semapv:UnspecifiedMatching -DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref ICD9CM:377.34 semapv:UnspecifiedMatching DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref ICD10CM:H46.3 semapv:UnspecifiedMatching +DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref ICD9CM:377.34 semapv:UnspecifiedMatching +DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref MESH:D000081028 semapv:UnspecifiedMatching +DOID:13329 toxic optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0155303 semapv:UnspecifiedMatching DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref ICD10CM:K14.3 semapv:UnspecifiedMatching DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref ICD9CM:529.3 semapv:UnspecifiedMatching DOID:13333 hypertrophy of tongue papillae oboInOwl:hasDbXref UMLS_CUI:C0392494 semapv:UnspecifiedMatching -DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref GARD:10326 semapv:UnspecifiedMatching -DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref ICD10CM:P37.1 semapv:UnspecifiedMatching -DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 semapv:UnspecifiedMatching -DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref NCI:C50503 semapv:UnspecifiedMatching DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0040560 semapv:UnspecifiedMatching +DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref NCI:C50503 semapv:UnspecifiedMatching +DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref MESH:D014125 semapv:UnspecifiedMatching +DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref ICD10CM:P37.1 semapv:UnspecifiedMatching +DOID:13336 congenital toxoplasmosis oboInOwl:hasDbXref GARD:10326 semapv:UnspecifiedMatching DOID:13341 parasitic conjunctivitis oboInOwl:hasDbXref ICD9CM:372.15 semapv:UnspecifiedMatching DOID:13341 parasitic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155148 semapv:UnspecifiedMatching +DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref ICD10CM:C32.3 semapv:UnspecifiedMatching DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref ICD9CM:161.3 semapv:UnspecifiedMatching DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref UMLS_CUI:C0153486 semapv:UnspecifiedMatching -DOID:13348 laryngeal cartilage cancer oboInOwl:hasDbXref ICD10CM:C32.3 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref ICD10CM:F65.4 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref ICD9CM:302.2 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref MESH:D010378 semapv:UnspecifiedMatching @@ -17038,16 +17065,16 @@ DOID:13351 pedophilia oboInOwl:hasDbXref NCI:C94355 semapv:UnspecifiedMatching DOID:13351 pedophilia oboInOwl:hasDbXref UMLS_CUI:C0030764 semapv:UnspecifiedMatching DOID:13352 ego-dystonic sexual orientation oboInOwl:hasDbXref ICD9CM:302.0 semapv:UnspecifiedMatching DOID:13352 ego-dystonic sexual orientation oboInOwl:hasDbXref UMLS_CUI:C0233880 semapv:UnspecifiedMatching -DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref ICD10CM:H16.32 semapv:UnspecifiedMatching -DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref ICD9CM:370.52 semapv:UnspecifiedMatching DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155089 semapv:UnspecifiedMatching +DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref ICD9CM:370.52 semapv:UnspecifiedMatching +DOID:13353 diffuse interstitial keratitis oboInOwl:hasDbXref ICD10CM:H16.32 semapv:UnspecifiedMatching DOID:13356 senile ectropion oboInOwl:hasDbXref ICD9CM:374.11 semapv:UnspecifiedMatching DOID:13356 senile ectropion oboInOwl:hasDbXref UMLS_CUI:C0155193 semapv:UnspecifiedMatching -DOID:13357 chondromalacia patellae oboInOwl:hasDbXref OMIM:168900 semapv:UnspecifiedMatching -DOID:13357 chondromalacia patellae oboInOwl:hasDbXref MESH:D046789 semapv:UnspecifiedMatching -DOID:13357 chondromalacia patellae oboInOwl:hasDbXref UMLS_CUI:C0008475 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref ICD10CM:M22.4 semapv:UnspecifiedMatching DOID:13357 chondromalacia patellae oboInOwl:hasDbXref ICD9CM:717.7 semapv:UnspecifiedMatching +DOID:13357 chondromalacia patellae oboInOwl:hasDbXref MESH:D046789 semapv:UnspecifiedMatching +DOID:13357 chondromalacia patellae oboInOwl:hasDbXref OMIM:168900 semapv:UnspecifiedMatching +DOID:13357 chondromalacia patellae oboInOwl:hasDbXref UMLS_CUI:C0008475 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref GARD:6322 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10CM:Q79.6 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD9CM:756.83 semapv:UnspecifiedMatching @@ -17055,250 +17082,250 @@ DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref MESH:D004535 semapv:Unspeci DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref NCI:C34568 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIMPS:130000 semapv:UnspecifiedMatching DOID:13359 Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS_CUI:C0013720 semapv:UnspecifiedMatching -DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref MESH:D021081 semapv:UnspecifiedMatching DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref UMLS_CUI:C0236811 semapv:UnspecifiedMatching +DOID:13364 obsolete chronobiology disease oboInOwl:hasDbXref MESH:D021081 semapv:UnspecifiedMatching DOID:13365 reading disorder oboInOwl:hasDbXref ICD9CM:315.09 semapv:UnspecifiedMatching DOID:13365 reading disorder oboInOwl:hasDbXref UMLS_CUI:C0154631 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref UMLS_CUI:C0085292 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref NCI:C85170 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD9CM:333.91 semapv:UnspecifiedMatching -DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD10CM:G25.82 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref GARD:5023 semapv:UnspecifiedMatching +DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD10CM:G25.82 semapv:UnspecifiedMatching +DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref ICD9CM:333.91 semapv:UnspecifiedMatching DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref MESH:D016750 semapv:UnspecifiedMatching +DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref NCI:C85170 semapv:UnspecifiedMatching +DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching +DOID:13366 Stiff-Person syndrome oboInOwl:hasDbXref UMLS_CUI:C0085292 semapv:UnspecifiedMatching DOID:13368 tinea profunda oboInOwl:hasDbXref UMLS_CUI:C1279621 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref ICD10CM:B35.2 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref ICD9CM:110.2 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref MESH:C000656824 semapv:UnspecifiedMatching DOID:13369 tinea manuum oboInOwl:hasDbXref UMLS_CUI:C0153246 semapv:UnspecifiedMatching -DOID:13371 scrub typhus oboInOwl:hasDbXref ICD10CM:A75.3 semapv:UnspecifiedMatching -DOID:13371 scrub typhus oboInOwl:hasDbXref ICD9CM:081.2 semapv:UnspecifiedMatching -DOID:13371 scrub typhus oboInOwl:hasDbXref MESH:D012612 semapv:UnspecifiedMatching DOID:13371 scrub typhus oboInOwl:hasDbXref UMLS_CUI:C0036472 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref UMLS_CUI:C0221757 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency skos:exactMatch MESH:D019896 semapv:UnspecifiedMatching +DOID:13371 scrub typhus oboInOwl:hasDbXref MESH:D012612 semapv:UnspecifiedMatching +DOID:13371 scrub typhus oboInOwl:hasDbXref ICD9CM:081.2 semapv:UnspecifiedMatching +DOID:13371 scrub typhus oboInOwl:hasDbXref ICD10CM:A75.3 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref GARD:5784 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD10CM:E88.01 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD9CM:273.4 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref MESH:D019896 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref NCI:C84397 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD9CM:273.4 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref ICD10CM:E88.01 semapv:UnspecifiedMatching -DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref GARD:5784 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref GARD:6445 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10CM:M61.1 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD9CM:728.11 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref NCI:C3040 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 semapv:UnspecifiedMatching -DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ORDO:337 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref OMIM:613490 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency oboInOwl:hasDbXref UMLS_CUI:C0221757 semapv:UnspecifiedMatching +DOID:13372 alpha 1-antitrypsin deficiency skos:exactMatch MESH:D019896 semapv:UnspecifiedMatching DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS_CUI:C0016037 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref UMLS_CUI:C0039483 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref ORDO:397 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref NCI:C35065 semapv:UnspecifiedMatching -DOID:13375 temporal arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ORDO:337 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref OMIM:135100 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref NCI:C3040 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD9CM:728.11 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref ICD10CM:M61.1 semapv:UnspecifiedMatching +DOID:13374 fibrodysplasia ossificans progressiva oboInOwl:hasDbXref GARD:6445 semapv:UnspecifiedMatching DOID:13375 temporal arteritis oboInOwl:hasDbXref ICD9CM:446.5 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref EFO:0004246 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref GARD:6816 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD10CM:M30.3 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD9CM:446.1 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref MESH:D009080 semapv:UnspecifiedMatching +DOID:13375 temporal arteritis oboInOwl:hasDbXref MESH:D013700 semapv:UnspecifiedMatching +DOID:13375 temporal arteritis oboInOwl:hasDbXref NCI:C35065 semapv:UnspecifiedMatching +DOID:13375 temporal arteritis oboInOwl:hasDbXref OMIM:187360 semapv:UnspecifiedMatching +DOID:13375 temporal arteritis oboInOwl:hasDbXref ORDO:397 semapv:UnspecifiedMatching +DOID:13375 temporal arteritis oboInOwl:hasDbXref UMLS_CUI:C0039483 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref UMLS_CUI:C0026691 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref NCI:C34825 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref MESH:D009080 semapv:UnspecifiedMatching DOID:13378 Kawasaki disease oboInOwl:hasDbXref OMIM:611775 semapv:UnspecifiedMatching -DOID:13378 Kawasaki disease oboInOwl:hasDbXref UMLS_CUI:C0026691 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS_CUI:C0002876 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIMPS:224120 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref NCI:C84646 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ORDO:85 semapv:UnspecifiedMatching -DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10CM:D64.4 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD10CM:M30.3 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref GARD:6816 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref EFO:0004246 semapv:UnspecifiedMatching +DOID:13378 Kawasaki disease oboInOwl:hasDbXref ICD9CM:446.1 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref GARD:1999 semapv:UnspecifiedMatching +DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ICD10CM:D64.4 semapv:UnspecifiedMatching DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref MESH:D000742 semapv:UnspecifiedMatching +DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref NCI:C84646 semapv:UnspecifiedMatching +DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIMPS:224120 semapv:UnspecifiedMatching +DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref ORDO:85 semapv:UnspecifiedMatching +DOID:1338 congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS_CUI:C0002876 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref UMLS_CUI:C0002892 semapv:UnspecifiedMatching -DOID:13381 pernicious anemia oboInOwl:hasDbXref NCI:C2871 semapv:UnspecifiedMatching -DOID:13381 pernicious anemia oboInOwl:hasDbXref MESH:D000752 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref OMIM:170900 semapv:UnspecifiedMatching +DOID:13381 pernicious anemia oboInOwl:hasDbXref MESH:D000752 semapv:UnspecifiedMatching +DOID:13381 pernicious anemia oboInOwl:hasDbXref NCI:C2871 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref ICD10CM:D51.0 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref GARD:12671 semapv:UnspecifiedMatching DOID:13381 pernicious anemia oboInOwl:hasDbXref ICD9CM:281.0 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref ICD10CM:D53.1 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref MESH:D000749 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref NCI:C34382 semapv:UnspecifiedMatching -DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:613839 semapv:UnspecifiedMatching +DOID:13382 megaloblastic anemia oboInOwl:hasDbXref OMIM:261100 semapv:UnspecifiedMatching DOID:13382 megaloblastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002888 semapv:UnspecifiedMatching -DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref UMLS_CUI:C0152945 semapv:UnspecifiedMatching -DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref MESH:C571911 semapv:UnspecifiedMatching +DOID:13382 megaloblastic anemia oboInOwl:hasDbXref MESH:D000749 semapv:UnspecifiedMatching +DOID:13382 megaloblastic anemia oboInOwl:hasDbXref ICD10CM:D53.1 semapv:UnspecifiedMatching +DOID:13382 megaloblastic anemia oboInOwl:hasDbXref NCI:C34382 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref ICD10CM:A22.2 semapv:UnspecifiedMatching DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref ICD9CM:022.2 semapv:UnspecifiedMatching +DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref MESH:C571911 semapv:UnspecifiedMatching +DOID:13386 gastrointestinal anthrax oboInOwl:hasDbXref UMLS_CUI:C0152945 semapv:UnspecifiedMatching DOID:13389 labia majora carcinoma oboInOwl:hasDbXref NCI:C9363 semapv:UnspecifiedMatching DOID:13389 labia majora carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334356 semapv:UnspecifiedMatching -DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref GARD:6274 semapv:UnspecifiedMatching -DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching -DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref MESH:D029503 semapv:UnspecifiedMatching -DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref NCI:C61236 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIMPS:105650 semapv:UnspecifiedMatching +DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref NCI:C61236 semapv:UnspecifiedMatching DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref ORDO:124 semapv:UnspecifiedMatching -DOID:13399 color blindness oboInOwl:hasDbXref NCI:C3891 semapv:UnspecifiedMatching +DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching +DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref MESH:D029503 semapv:UnspecifiedMatching +DOID:1339 Diamond-Blackfan anemia oboInOwl:hasDbXref GARD:6274 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref ICD10CM:H53.5 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref ICD9CM:368.5 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching +DOID:13399 color blindness oboInOwl:hasDbXref NCI:C3891 semapv:UnspecifiedMatching DOID:13399 color blindness oboInOwl:hasDbXref UMLS_CUI:C0242225 semapv:UnspecifiedMatching -DOID:134 vaginal glandular tumor oboInOwl:hasDbXref UMLS_CUI:C1519921 semapv:UnspecifiedMatching DOID:134 vaginal glandular tumor oboInOwl:hasDbXref NCI:C40250 semapv:UnspecifiedMatching +DOID:134 vaginal glandular tumor oboInOwl:hasDbXref UMLS_CUI:C1519921 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref GARD:7504 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref MESH:D012010 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref NCI:C34974 semapv:UnspecifiedMatching DOID:1340 pure red-cell aplasia oboInOwl:hasDbXref UMLS_CUI:C0034902 semapv:UnspecifiedMatching +DOID:13401 angioid streaks oboInOwl:hasDbXref UMLS_CUI:C0002982 semapv:UnspecifiedMatching DOID:13401 angioid streaks oboInOwl:hasDbXref MESH:D000793 semapv:UnspecifiedMatching DOID:13401 angioid streaks oboInOwl:hasDbXref OMIM:607140 semapv:UnspecifiedMatching -DOID:13401 angioid streaks oboInOwl:hasDbXref UMLS_CUI:C0002982 semapv:UnspecifiedMatching +DOID:13402 skin sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036203 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref ICD10CM:D86.3 semapv:UnspecifiedMatching DOID:13402 skin sarcoidosis oboInOwl:hasDbXref NCI:C34996 semapv:UnspecifiedMatching -DOID:13402 skin sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036203 semapv:UnspecifiedMatching DOID:13403 neurosarcoidosis oboInOwl:hasDbXref NCI:C35441 semapv:UnspecifiedMatching DOID:13403 neurosarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0398676 semapv:UnspecifiedMatching +DOID:13404 uveoparotid fever oboInOwl:hasDbXref ICD10CM:D86.89 semapv:UnspecifiedMatching DOID:13404 uveoparotid fever oboInOwl:hasDbXref MESH:D014608 semapv:UnspecifiedMatching DOID:13404 uveoparotid fever oboInOwl:hasDbXref UMLS_CUI:C0042171 semapv:UnspecifiedMatching -DOID:13404 uveoparotid fever oboInOwl:hasDbXref ICD10CM:D86.89 semapv:UnspecifiedMatching DOID:13405 cardiac sarcoidosis oboInOwl:hasDbXref NCI:C35589 semapv:UnspecifiedMatching DOID:13405 cardiac sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0392077 semapv:UnspecifiedMatching +DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036205 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref ICD10CM:D86.0 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref MEDDRA:10037430 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref MESH:D017565 semapv:UnspecifiedMatching DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref NCI:C34997 semapv:UnspecifiedMatching -DOID:13406 pulmonary sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C0036205 semapv:UnspecifiedMatching -DOID:13407 hypercalcemic sarcoidosis oboInOwl:hasDbXref NCI:C35807 semapv:UnspecifiedMatching DOID:13407 hypercalcemic sarcoidosis oboInOwl:hasDbXref UMLS_CUI:C1334067 semapv:UnspecifiedMatching +DOID:13407 hypercalcemic sarcoidosis oboInOwl:hasDbXref NCI:C35807 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref ICD10CM:K83.2 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref ICD9CM:576.3 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref NCI:C78528 semapv:UnspecifiedMatching DOID:13409 perforation of bile duct oboInOwl:hasDbXref UMLS_CUI:C0156218 semapv:UnspecifiedMatching -DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref NCI:C79596 semapv:UnspecifiedMatching -DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0019151 semapv:UnspecifiedMatching -DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref MESH:D006501 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref GARD:10452 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref ICD10CM:K76.82 semapv:UnspecifiedMatching DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref ICD9CM:572.2 semapv:UnspecifiedMatching +DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref MESH:D006501 semapv:UnspecifiedMatching +DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref NCI:C79596 semapv:UnspecifiedMatching +DOID:13413 hepatic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0019151 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref ICD9CM:315.01 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref MESH:D004410 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref MESH:D004411 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref UMLS_CUI:C0002018 semapv:UnspecifiedMatching DOID:13417 alexia oboInOwl:hasDbXref UMLS_CUI:C0013388 semapv:UnspecifiedMatching +DOID:13419 neurogenic bowel oboInOwl:hasDbXref UMLS_CUI:C0695242 semapv:UnspecifiedMatching DOID:13419 neurogenic bowel oboInOwl:hasDbXref ICD9CM:564.81 semapv:UnspecifiedMatching DOID:13419 neurogenic bowel oboInOwl:hasDbXref MESH:D055496 semapv:UnspecifiedMatching -DOID:13419 neurogenic bowel oboInOwl:hasDbXref UMLS_CUI:C0695242 semapv:UnspecifiedMatching -DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0949116 semapv:UnspecifiedMatching -DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0702159 semapv:UnspecifiedMatching -DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref MESH:D029502 semapv:UnspecifiedMatching -DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD10CM:D61.0 semapv:UnspecifiedMatching +DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD10CM:D61.01 semapv:UnspecifiedMatching DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref ICD9CM:284.0 semapv:UnspecifiedMatching +DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref MESH:D029502 semapv:UnspecifiedMatching +DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0702159 semapv:UnspecifiedMatching +DOID:1342 congenital hypoplastic anemia oboInOwl:hasDbXref UMLS_CUI:C0949116 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref ICD10CM:N34.2 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref ICD9CM:597.80 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref MESH:D014526 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref NCI:C26904 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref UMLS_CUI:C0041976 semapv:UnspecifiedMatching DOID:1343 urethritis oboInOwl:hasDbXref UMLS_CUI:C0311389 semapv:UnspecifiedMatching -DOID:13431 bejel oboInOwl:hasDbXref GARD:5905 semapv:UnspecifiedMatching -DOID:13431 bejel oboInOwl:hasDbXref MESH:D014211 semapv:UnspecifiedMatching DOID:13431 bejel oboInOwl:hasDbXref UMLS_CUI:C0004945 semapv:UnspecifiedMatching -DOID:13444 glanders oboInOwl:hasDbXref NCI:C34638 semapv:UnspecifiedMatching -DOID:13444 glanders oboInOwl:hasDbXref MESH:D005896 semapv:UnspecifiedMatching -DOID:13444 glanders oboInOwl:hasDbXref UMLS_CUI:C0017589 semapv:UnspecifiedMatching -DOID:13444 glanders oboInOwl:hasDbXref ICD10CM:A24.0 semapv:UnspecifiedMatching +DOID:13431 bejel oboInOwl:hasDbXref MESH:D014211 semapv:UnspecifiedMatching +DOID:13431 bejel oboInOwl:hasDbXref GARD:5905 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref GARD:9536 semapv:UnspecifiedMatching +DOID:13444 glanders oboInOwl:hasDbXref ICD10CM:A24.0 semapv:UnspecifiedMatching DOID:13444 glanders oboInOwl:hasDbXref ICD9CM:024 semapv:UnspecifiedMatching -DOID:13446 basilar artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0265098 semapv:UnspecifiedMatching +DOID:13444 glanders oboInOwl:hasDbXref MESH:D005896 semapv:UnspecifiedMatching +DOID:13444 glanders oboInOwl:hasDbXref NCI:C34638 semapv:UnspecifiedMatching +DOID:13444 glanders oboInOwl:hasDbXref UMLS_CUI:C0017589 semapv:UnspecifiedMatching DOID:13446 basilar artery occlusion oboInOwl:hasDbXref ICD10CM:I65.1 semapv:UnspecifiedMatching DOID:13446 basilar artery occlusion oboInOwl:hasDbXref ICD9CM:433.0 semapv:UnspecifiedMatching +DOID:13446 basilar artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0265098 semapv:UnspecifiedMatching DOID:13447 corneal argyrosis oboInOwl:hasDbXref ICD10CM:H18.02 semapv:UnspecifiedMatching DOID:13447 corneal argyrosis oboInOwl:hasDbXref ICD9CM:371.16 semapv:UnspecifiedMatching DOID:13447 corneal argyrosis oboInOwl:hasDbXref UMLS_CUI:C0155108 semapv:UnspecifiedMatching -DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.05 semapv:UnspecifiedMatching DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref ICD9CM:371.13 semapv:UnspecifiedMatching DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref UMLS_CUI:C0155106 semapv:UnspecifiedMatching +DOID:13448 posterior corneal pigmentation oboInOwl:hasDbXref ICD10CM:H18.05 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref GARD:9525 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref ICD10CM:B38 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref ICD9CM:114 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref MESH:D003047 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref NCI:C84642 semapv:UnspecifiedMatching DOID:13450 coccidioidomycosis oboInOwl:hasDbXref UMLS_CUI:C0009186 semapv:UnspecifiedMatching -DOID:13452 scleritis oboInOwl:hasDbXref UMLS_CUI:C0036416 semapv:UnspecifiedMatching -DOID:13452 scleritis oboInOwl:hasDbXref NCI:C119046 semapv:UnspecifiedMatching -DOID:13452 scleritis oboInOwl:hasDbXref MESH:D015423 semapv:UnspecifiedMatching -DOID:13452 scleritis oboInOwl:hasDbXref GARD:12911 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref ICD10CM:H15.0 semapv:UnspecifiedMatching +DOID:13452 scleritis oboInOwl:hasDbXref GARD:12911 semapv:UnspecifiedMatching DOID:13452 scleritis oboInOwl:hasDbXref ICD9CM:379.00 semapv:UnspecifiedMatching -DOID:13453 gonococcal bursitis oboInOwl:hasDbXref ICD10CM:A54.49 semapv:UnspecifiedMatching +DOID:13452 scleritis oboInOwl:hasDbXref MESH:D015423 semapv:UnspecifiedMatching +DOID:13452 scleritis oboInOwl:hasDbXref NCI:C119046 semapv:UnspecifiedMatching +DOID:13452 scleritis oboInOwl:hasDbXref UMLS_CUI:C0036416 semapv:UnspecifiedMatching DOID:13453 gonococcal bursitis oboInOwl:hasDbXref ICD9CM:098.52 semapv:UnspecifiedMatching DOID:13453 gonococcal bursitis oboInOwl:hasDbXref UMLS_CUI:C0153218 semapv:UnspecifiedMatching -DOID:13454 gonococcal synovitis oboInOwl:hasDbXref ICD9CM:098.51 semapv:UnspecifiedMatching +DOID:13453 gonococcal bursitis oboInOwl:hasDbXref ICD10CM:A54.49 semapv:UnspecifiedMatching DOID:13454 gonococcal synovitis oboInOwl:hasDbXref UMLS_CUI:C0343714 semapv:UnspecifiedMatching -DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref UMLS_CUI:C0375381 semapv:UnspecifiedMatching +DOID:13454 gonococcal synovitis oboInOwl:hasDbXref ICD9CM:098.51 semapv:UnspecifiedMatching DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref ICD10CM:N36.42 semapv:UnspecifiedMatching DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref ICD9CM:599.82 semapv:UnspecifiedMatching +DOID:13461 urethral intrinsic sphincter deficiency oboInOwl:hasDbXref UMLS_CUI:C0375381 semapv:UnspecifiedMatching +DOID:13473 central pterygium oboInOwl:hasDbXref ICD10CM:H11.02 semapv:UnspecifiedMatching DOID:13473 central pterygium oboInOwl:hasDbXref ICD9CM:372.43 semapv:UnspecifiedMatching DOID:13473 central pterygium oboInOwl:hasDbXref UMLS_CUI:C0155156 semapv:UnspecifiedMatching -DOID:13473 central pterygium oboInOwl:hasDbXref ICD10CM:H11.02 semapv:UnspecifiedMatching DOID:13474 progressive peripheral pterygium oboInOwl:hasDbXref ICD9CM:372.42 semapv:UnspecifiedMatching DOID:13474 progressive peripheral pterygium oboInOwl:hasDbXref UMLS_CUI:C0155155 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref ICD10CM:C32.1 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref ICD9CM:161.1 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref NCI:C3545 semapv:UnspecifiedMatching DOID:13476 supraglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153484 semapv:UnspecifiedMatching -DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref NCI:C3523 semapv:UnspecifiedMatching -DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref ICD9CM:607.81 semapv:UnspecifiedMatching DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref UMLS_CUI:C0152460 semapv:UnspecifiedMatching DOID:13477 balanitis xerotica obliterans skos:exactMatch MESH:D052798 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93274 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93275 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching +DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref ICD9CM:607.81 semapv:UnspecifiedMatching +DOID:13477 balanitis xerotica obliterans oboInOwl:hasDbXref NCI:C3523 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia skos:exactMatch MESH:D013796 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:2655 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref UMLS_CUI:C0039743 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93275 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:93274 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:2655 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ORDO:1860 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187600 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref NCI:C85187 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref MESH:D013796 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref ICD10CM:Q77.1 semapv:UnspecifiedMatching DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref GARD:85 semapv:UnspecifiedMatching -DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching +DOID:13481 thanatophoric dysplasia oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching +DOID:13482 Proteus syndrome oboInOwl:hasDbXref UMLS_CUI:C0085261 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref OMIM:176920 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref GARD:7475 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref MESH:D016715 semapv:UnspecifiedMatching DOID:13482 Proteus syndrome oboInOwl:hasDbXref NCI:C85032 semapv:UnspecifiedMatching -DOID:13482 Proteus syndrome oboInOwl:hasDbXref UMLS_CUI:C0085261 semapv:UnspecifiedMatching -DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref UMLS_CUI:C0236791 semapv:UnspecifiedMatching -DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref NCI:C97164 semapv:UnspecifiedMatching -DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD10CM:F84.3 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref GARD:6040 semapv:UnspecifiedMatching +DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD10CM:F84.3 semapv:UnspecifiedMatching DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref ICD9CM:299.1 semapv:UnspecifiedMatching +DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref NCI:C97164 semapv:UnspecifiedMatching +DOID:13487 childhood disintegrative disease oboInOwl:hasDbXref UMLS_CUI:C0236791 semapv:UnspecifiedMatching DOID:13490 active cochleovestibular Meniere's disease oboInOwl:hasDbXref ICD9CM:386.01 semapv:UnspecifiedMatching DOID:13490 active cochleovestibular Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0155496 semapv:UnspecifiedMatching DOID:13491 active vestibular Meniere's disease oboInOwl:hasDbXref ICD9CM:386.03 semapv:UnspecifiedMatching DOID:13491 active vestibular Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0155498 semapv:UnspecifiedMatching DOID:13492 active cochlear Meniere's disease oboInOwl:hasDbXref ICD9CM:386.02 semapv:UnspecifiedMatching DOID:13492 active cochlear Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0155497 semapv:UnspecifiedMatching -DOID:13498 urethral syndrome oboInOwl:hasDbXref ICD10CM:N34.3 semapv:UnspecifiedMatching DOID:13498 urethral syndrome oboInOwl:hasDbXref ICD9CM:597.81 semapv:UnspecifiedMatching DOID:13498 urethral syndrome oboInOwl:hasDbXref UMLS_CUI:C0156279 semapv:UnspecifiedMatching -DOID:13499 jejunal cancer oboInOwl:hasDbXref ICD9CM:152.1 semapv:UnspecifiedMatching -DOID:13499 jejunal cancer oboInOwl:hasDbXref UMLS_CUI:C0153427 semapv:UnspecifiedMatching -DOID:13499 jejunal cancer oboInOwl:hasDbXref NCI:C170919 semapv:UnspecifiedMatching +DOID:13498 urethral syndrome oboInOwl:hasDbXref ICD10CM:N34.3 semapv:UnspecifiedMatching DOID:13499 jejunal cancer oboInOwl:hasDbXref ICD10CM:C17.1 semapv:UnspecifiedMatching +DOID:13499 jejunal cancer oboInOwl:hasDbXref ICD9CM:152.1 semapv:UnspecifiedMatching DOID:13499 jejunal cancer oboInOwl:hasDbXref MESH:D007580 semapv:UnspecifiedMatching +DOID:13499 jejunal cancer oboInOwl:hasDbXref NCI:C170919 semapv:UnspecifiedMatching +DOID:13499 jejunal cancer oboInOwl:hasDbXref UMLS_CUI:C0153427 semapv:UnspecifiedMatching DOID:135 benign vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40275 semapv:UnspecifiedMatching DOID:135 benign vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1511106 semapv:UnspecifiedMatching DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref MESH:D010255 semapv:UnspecifiedMatching DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref NCI:C7488 semapv:UnspecifiedMatching DOID:1350 paranasal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0030470 semapv:UnspecifiedMatching -DOID:13500 hairy tongue oboInOwl:hasDbXref NCI:C35075 semapv:UnspecifiedMatching DOID:13500 hairy tongue oboInOwl:hasDbXref MESH:D014064 semapv:UnspecifiedMatching +DOID:13500 hairy tongue oboInOwl:hasDbXref NCI:C35075 semapv:UnspecifiedMatching DOID:13500 hairy tongue oboInOwl:hasDbXref UMLS_CUI:C0040414 semapv:UnspecifiedMatching -DOID:13501 Moebius syndrome oboInOwl:hasDbXref UMLS_CUI:C0221060 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref OMIM:157900 semapv:UnspecifiedMatching +DOID:13501 Moebius syndrome oboInOwl:hasDbXref UMLS_CUI:C0221060 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref NCI:C84893 semapv:UnspecifiedMatching -DOID:13501 Moebius syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref GARD:8549 semapv:UnspecifiedMatching +DOID:13501 Moebius syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:13501 Moebius syndrome oboInOwl:hasDbXref MESH:D020331 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref ICD10CM:N30.3 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref ICD9CM:595.3 semapv:UnspecifiedMatching @@ -17306,13 +17333,13 @@ DOID:13507 trigonitis oboInOwl:hasDbXref NCI:C123175 semapv:UnspecifiedMatching DOID:13507 trigonitis oboInOwl:hasDbXref UMLS_CUI:C1261278 semapv:UnspecifiedMatching DOID:13514 venous tributary occlusion of retina oboInOwl:hasDbXref ICD9CM:362.36 semapv:UnspecifiedMatching DOID:13514 venous tributary occlusion of retina oboInOwl:hasDbXref UMLS_CUI:C0154842 semapv:UnspecifiedMatching -DOID:13515 tuberous sclerosis oboInOwl:hasDbXref NCI:C3424 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref UMLS_CUI:C0041341 semapv:UnspecifiedMatching -DOID:13515 tuberous sclerosis oboInOwl:hasDbXref OMIMPS:191100 semapv:UnspecifiedMatching +DOID:13515 tuberous sclerosis oboInOwl:hasDbXref NCI:C3424 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref MESH:D014402 semapv:UnspecifiedMatching -DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD9CM:759.5 semapv:UnspecifiedMatching +DOID:13515 tuberous sclerosis oboInOwl:hasDbXref OMIMPS:191100 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD10CM:Q85.1 semapv:UnspecifiedMatching DOID:13515 tuberous sclerosis oboInOwl:hasDbXref GARD:7830 semapv:UnspecifiedMatching +DOID:13515 tuberous sclerosis oboInOwl:hasDbXref ICD9CM:759.5 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref MESH:D010254 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref NCI:C26843 semapv:UnspecifiedMatching DOID:1352 paranasal sinus disease oboInOwl:hasDbXref UMLS_CUI:C0030469 semapv:UnspecifiedMatching @@ -17323,186 +17350,186 @@ DOID:13521 tetanus neonatorum oboInOwl:hasDbXref ICD10CM:A33 semapv:UnspecifiedM DOID:13521 tetanus neonatorum oboInOwl:hasDbXref ICD9CM:771.3 semapv:UnspecifiedMatching DOID:13521 tetanus neonatorum oboInOwl:hasDbXref NCI:C116814 semapv:UnspecifiedMatching DOID:13521 tetanus neonatorum oboInOwl:hasDbXref UMLS_CUI:C0343312 semapv:UnspecifiedMatching +DOID:13523 loiasis oboInOwl:hasDbXref UMLS_CUI:C0023968 semapv:UnspecifiedMatching +DOID:13523 loiasis oboInOwl:hasDbXref NCI:C34784 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref MESH:D008118 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref ICD9CM:125.2 semapv:UnspecifiedMatching -DOID:13523 loiasis oboInOwl:hasDbXref NCI:C34784 semapv:UnspecifiedMatching -DOID:13523 loiasis oboInOwl:hasDbXref GARD:3283 semapv:UnspecifiedMatching DOID:13523 loiasis oboInOwl:hasDbXref ICD10CM:B74.3 semapv:UnspecifiedMatching -DOID:13523 loiasis oboInOwl:hasDbXref UMLS_CUI:C0023968 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref ORDO:667 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:607634 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref UMLS_CUI:C0029454 semapv:UnspecifiedMatching +DOID:13523 loiasis oboInOwl:hasDbXref GARD:3283 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref GARD:4155 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD9CM:756.52 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref NCI:C26840 semapv:UnspecifiedMatching DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:259700 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref MESH:D010022 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD9CM:756.52 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching -DOID:13533 osteopetrosis oboInOwl:hasDbXref GARD:4155 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref OMIMPS:607634 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref ORDO:667 semapv:UnspecifiedMatching +DOID:13533 osteopetrosis oboInOwl:hasDbXref UMLS_CUI:C0029454 semapv:UnspecifiedMatching DOID:13534 purulent labyrinthitis oboInOwl:hasDbXref ICD9CM:386.33 semapv:UnspecifiedMatching DOID:13534 purulent labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155506 semapv:UnspecifiedMatching -DOID:13538 cornea squamous cell carcinoma oboInOwl:hasDbXref NCI:C4552 semapv:UnspecifiedMatching DOID:13538 cornea squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346366 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020502 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ORDO:99879 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref MESH:D006961 semapv:UnspecifiedMatching -DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.0 semapv:UnspecifiedMatching +DOID:13538 cornea squamous cell carcinoma oboInOwl:hasDbXref NCI:C4552 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD10CM:E21.3 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.0 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref MESH:D006961 semapv:UnspecifiedMatching DOID:13543 hyperparathyroidism oboInOwl:hasDbXref NCI:C48259 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145000 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:145001 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref OMIM:610071 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref ORDO:99879 semapv:UnspecifiedMatching +DOID:13543 hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0020502 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref ICD10CM:H40.12 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref ICD9CM:365.12 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref MESH:D057066 semapv:UnspecifiedMatching DOID:13544 low tension glaucoma oboInOwl:hasDbXref UMLS_CUI:C0152136 semapv:UnspecifiedMatching -DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref ICD10CM:G21 semapv:UnspecifiedMatching -DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref ICD9CM:332.1 semapv:UnspecifiedMatching -DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref MESH:D010302 semapv:UnspecifiedMatching -DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref NCI:C34899 semapv:UnspecifiedMatching DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref UMLS_CUI:C0030569 semapv:UnspecifiedMatching -DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.21 semapv:UnspecifiedMatching +DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref NCI:C34899 semapv:UnspecifiedMatching +DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref MESH:D010302 semapv:UnspecifiedMatching +DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref ICD9CM:332.1 semapv:UnspecifiedMatching +DOID:13548 secondary Parkinson disease oboInOwl:hasDbXref ICD10CM:G21 semapv:UnspecifiedMatching DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref ICD10CM:H40.23 semapv:UnspecifiedMatching +DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.21 semapv:UnspecifiedMatching DOID:13549 interval angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154945 semapv:UnspecifiedMatching -DOID:1355 paranasal sinus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335339 semapv:UnspecifiedMatching DOID:1355 paranasal sinus lymphoma oboInOwl:hasDbXref NCI:C6068 semapv:UnspecifiedMatching +DOID:1355 paranasal sinus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335339 semapv:UnspecifiedMatching DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref MESH:D015812 semapv:UnspecifiedMatching DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref NCI:C34639 semapv:UnspecifiedMatching DOID:13550 angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017605 semapv:UnspecifiedMatching DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref ICD10CM:D25.2 semapv:UnspecifiedMatching DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref ICD9CM:218.2 semapv:UnspecifiedMatching DOID:13560 subserous uterine fibroid oboInOwl:hasDbXref UMLS_CUI:C0153995 semapv:UnspecifiedMatching +DOID:13561 optic disk drusen oboInOwl:hasDbXref UMLS_CUI:C0029128 semapv:UnspecifiedMatching +DOID:13561 optic disk drusen oboInOwl:hasDbXref MESH:D015594 semapv:UnspecifiedMatching DOID:13561 optic disk drusen oboInOwl:hasDbXref ICD10CM:H47.32 semapv:UnspecifiedMatching DOID:13561 optic disk drusen oboInOwl:hasDbXref ICD9CM:377.21 semapv:UnspecifiedMatching -DOID:13561 optic disk drusen oboInOwl:hasDbXref MESH:D015594 semapv:UnspecifiedMatching -DOID:13561 optic disk drusen oboInOwl:hasDbXref UMLS_CUI:C0029128 semapv:UnspecifiedMatching -DOID:13564 aspergillosis oboInOwl:hasDbXref NCI:C2886 semapv:UnspecifiedMatching DOID:13564 aspergillosis skos:exactMatch MESH:D001228 semapv:UnspecifiedMatching -DOID:13564 aspergillosis oboInOwl:hasDbXref UMLS_CUI:C0004030 semapv:UnspecifiedMatching -DOID:13564 aspergillosis oboInOwl:hasDbXref MESH:D001228 semapv:UnspecifiedMatching -DOID:13564 aspergillosis oboInOwl:hasDbXref ICD9CM:117.3 semapv:UnspecifiedMatching -DOID:13564 aspergillosis oboInOwl:hasDbXref ICD10CM:B44 semapv:UnspecifiedMatching DOID:13564 aspergillosis oboInOwl:hasDbXref GARD:5856 semapv:UnspecifiedMatching +DOID:13564 aspergillosis oboInOwl:hasDbXref ICD10CM:B44 semapv:UnspecifiedMatching +DOID:13564 aspergillosis oboInOwl:hasDbXref ICD9CM:117.3 semapv:UnspecifiedMatching +DOID:13564 aspergillosis oboInOwl:hasDbXref MESH:D001228 semapv:UnspecifiedMatching +DOID:13564 aspergillosis oboInOwl:hasDbXref NCI:C2886 semapv:UnspecifiedMatching +DOID:13564 aspergillosis oboInOwl:hasDbXref UMLS_CUI:C0004030 semapv:UnspecifiedMatching DOID:13565 neuroaspergillosis oboInOwl:hasDbXref MESH:D020953 semapv:UnspecifiedMatching DOID:13565 neuroaspergillosis oboInOwl:hasDbXref UMLS_CUI:C0752342 semapv:UnspecifiedMatching DOID:13565 neuroaspergillosis skos:exactMatch MESH:D020953 semapv:UnspecifiedMatching DOID:13566 tibial collateral ligament bursitis oboInOwl:hasDbXref ICD9CM:726.62 semapv:UnspecifiedMatching DOID:13566 tibial collateral ligament bursitis oboInOwl:hasDbXref UMLS_CUI:C0158315 semapv:UnspecifiedMatching -DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref ICD10CM:C31.0 semapv:UnspecifiedMatching -DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref ICD9CM:160.2 semapv:UnspecifiedMatching -DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref NCI:C3540 semapv:UnspecifiedMatching -DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref NCI:C9332 semapv:UnspecifiedMatching DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153476 semapv:UnspecifiedMatching DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0740487 semapv:UnspecifiedMatching -DOID:13574 cortical senile cataract oboInOwl:hasDbXref UMLS_CUI:C0154980 semapv:UnspecifiedMatching +DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref NCI:C3540 semapv:UnspecifiedMatching +DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref ICD9CM:160.2 semapv:UnspecifiedMatching +DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref ICD10CM:C31.0 semapv:UnspecifiedMatching +DOID:1357 maxillary sinus cancer oboInOwl:hasDbXref NCI:C9332 semapv:UnspecifiedMatching DOID:13574 cortical senile cataract oboInOwl:hasDbXref ICD9CM:366.15 semapv:UnspecifiedMatching -DOID:13575 non-renal secondary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C1456268 semapv:UnspecifiedMatching +DOID:13574 cortical senile cataract oboInOwl:hasDbXref UMLS_CUI:C0154980 semapv:UnspecifiedMatching DOID:13575 non-renal secondary hyperparathyroidism oboInOwl:hasDbXref ICD9CM:252.02 semapv:UnspecifiedMatching +DOID:13575 non-renal secondary hyperparathyroidism oboInOwl:hasDbXref UMLS_CUI:C1456268 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref ICD10CM:O43.02 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref MESH:D005330 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref NCI:C113824 semapv:UnspecifiedMatching DOID:13576 twin-to-twin transfusion syndrome oboInOwl:hasDbXref UMLS_CUI:C2909036 semapv:UnspecifiedMatching +DOID:13579 kwashiorkor oboInOwl:hasDbXref UMLS_CUI:C0022806 semapv:UnspecifiedMatching DOID:13579 kwashiorkor oboInOwl:hasDbXref ICD10CM:E40 semapv:UnspecifiedMatching DOID:13579 kwashiorkor oboInOwl:hasDbXref ICD9CM:260 semapv:UnspecifiedMatching DOID:13579 kwashiorkor oboInOwl:hasDbXref MESH:D007732 semapv:UnspecifiedMatching -DOID:13579 kwashiorkor oboInOwl:hasDbXref UMLS_CUI:C0022806 semapv:UnspecifiedMatching -DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref MESH:D008444 semapv:UnspecifiedMatching -DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref NCI:C3219 semapv:UnspecifiedMatching DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0024958 semapv:UnspecifiedMatching -DOID:13580 cholestasis oboInOwl:hasDbXref NCI:C83006 semapv:UnspecifiedMatching -DOID:13580 cholestasis oboInOwl:hasDbXref MESH:D002779 semapv:UnspecifiedMatching -DOID:13580 cholestasis oboInOwl:hasDbXref UMLS_CUI:C0008370 semapv:UnspecifiedMatching +DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref NCI:C3219 semapv:UnspecifiedMatching +DOID:1358 maxillary sinus benign neoplasm oboInOwl:hasDbXref MESH:D008444 semapv:UnspecifiedMatching DOID:13580 cholestasis oboInOwl:hasDbXref ICD10CM:K83.1 semapv:UnspecifiedMatching DOID:13580 cholestasis oboInOwl:hasDbXref ICD9CM:576.2 semapv:UnspecifiedMatching +DOID:13580 cholestasis oboInOwl:hasDbXref MESH:D002779 semapv:UnspecifiedMatching +DOID:13580 cholestasis oboInOwl:hasDbXref NCI:C83006 semapv:UnspecifiedMatching +DOID:13580 cholestasis oboInOwl:hasDbXref UMLS_CUI:C0008370 semapv:UnspecifiedMatching +DOID:13585 alveolar periostitis oboInOwl:hasDbXref UMLS_CUI:C0013240 semapv:UnspecifiedMatching DOID:13585 alveolar periostitis oboInOwl:hasDbXref ICD10CM:M27.3 semapv:UnspecifiedMatching DOID:13585 alveolar periostitis oboInOwl:hasDbXref ICD9CM:526.5 semapv:UnspecifiedMatching DOID:13585 alveolar periostitis oboInOwl:hasDbXref MESH:D004368 semapv:UnspecifiedMatching -DOID:13585 alveolar periostitis oboInOwl:hasDbXref UMLS_CUI:C0013240 semapv:UnspecifiedMatching DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref ICD9CM:628.3 semapv:UnspecifiedMatching DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref UMLS_CUI:C0156416 semapv:UnspecifiedMatching DOID:13589 female infertility of uterine origin oboInOwl:hasDbXref ICD10CM:N97.2 semapv:UnspecifiedMatching +DOID:13593 eclampsia oboInOwl:hasDbXref UMLS_CUI:C0013537 semapv:UnspecifiedMatching +DOID:13593 eclampsia oboInOwl:hasDbXref NCI:C87167 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref GARD:6316 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref ICD10CM:O15 semapv:UnspecifiedMatching DOID:13593 eclampsia oboInOwl:hasDbXref MESH:D004461 semapv:UnspecifiedMatching -DOID:13593 eclampsia oboInOwl:hasDbXref NCI:C87167 semapv:UnspecifiedMatching -DOID:13593 eclampsia oboInOwl:hasDbXref UMLS_CUI:C0013537 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519918 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519924 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1512974 semapv:UnspecifiedMatching -DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40276 semapv:UnspecifiedMatching DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40274 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40276 semapv:UnspecifiedMatching DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref NCI:C40278 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1512974 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519918 semapv:UnspecifiedMatching +DOID:136 vaginal carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519924 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref ICD10CM:C31.2 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref ICD9CM:160.4 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref NCI:C3542 semapv:UnspecifiedMatching DOID:1360 frontal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153478 semapv:UnspecifiedMatching +DOID:13603 obstructive jaundice oboInOwl:hasDbXref UMLS_CUI:C0022354 semapv:UnspecifiedMatching DOID:13603 obstructive jaundice oboInOwl:hasDbXref MESH:D041781 semapv:UnspecifiedMatching DOID:13603 obstructive jaundice oboInOwl:hasDbXref NCI:C34742 semapv:UnspecifiedMatching -DOID:13603 obstructive jaundice oboInOwl:hasDbXref UMLS_CUI:C0022354 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref GARD:12010 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref ICD10CM:Q44.2 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref ICD9CM:751.61 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref NCI:C34421 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref UMLS_CUI:C0005411 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref ORDO:30391 semapv:UnspecifiedMatching DOID:13608 biliary atresia oboInOwl:hasDbXref OMIM:210500 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref MESH:D001656 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref ICD9CM:751.61 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref ICD10CM:Q44.2 semapv:UnspecifiedMatching -DOID:13608 biliary atresia oboInOwl:hasDbXref GARD:12010 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref ORDO:30391 semapv:UnspecifiedMatching +DOID:13608 biliary atresia oboInOwl:hasDbXref UMLS_CUI:C0005411 semapv:UnspecifiedMatching DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref NCI:C4419 semapv:UnspecifiedMatching DOID:1361 frontal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345672 semapv:UnspecifiedMatching -DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref MESH:D001651 semapv:UnspecifiedMatching DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref NCI:C34420 semapv:UnspecifiedMatching +DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref MESH:D001651 semapv:UnspecifiedMatching DOID:13619 extrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0005398 semapv:UnspecifiedMatching DOID:1362 paranasal sinus sarcoma oboInOwl:hasDbXref NCI:C6849 semapv:UnspecifiedMatching DOID:1362 paranasal sinus sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335342 semapv:UnspecifiedMatching -DOID:13620 patent foramen ovale oboInOwl:hasDbXref MESH:D054092 semapv:UnspecifiedMatching +DOID:13620 patent foramen ovale oboInOwl:hasDbXref UMLS_CUI:C0016522 semapv:UnspecifiedMatching DOID:13620 patent foramen ovale oboInOwl:hasDbXref NCI:C34619 semapv:UnspecifiedMatching +DOID:13620 patent foramen ovale oboInOwl:hasDbXref MESH:D054092 semapv:UnspecifiedMatching DOID:13620 patent foramen ovale oboInOwl:hasDbXref ICD10CM:Q21.12 semapv:UnspecifiedMatching -DOID:13620 patent foramen ovale oboInOwl:hasDbXref UMLS_CUI:C0016522 semapv:UnspecifiedMatching -DOID:13622 campylobacteriosis oboInOwl:hasDbXref UMLS_CUI:C0006818 semapv:UnspecifiedMatching DOID:13622 campylobacteriosis oboInOwl:hasDbXref MESH:D002169 semapv:UnspecifiedMatching -DOID:13626 photokeratitis oboInOwl:hasDbXref NCI:C118750 semapv:UnspecifiedMatching -DOID:13626 photokeratitis oboInOwl:hasDbXref UMLS_CUI:C0155078 semapv:UnspecifiedMatching +DOID:13622 campylobacteriosis oboInOwl:hasDbXref UMLS_CUI:C0006818 semapv:UnspecifiedMatching DOID:13626 photokeratitis oboInOwl:hasDbXref ICD10CM:H16.13 semapv:UnspecifiedMatching DOID:13626 photokeratitis oboInOwl:hasDbXref ICD9CM:370.24 semapv:UnspecifiedMatching -DOID:13628 favism oboInOwl:hasDbXref NCI:C34607 semapv:UnspecifiedMatching -DOID:13628 favism oboInOwl:hasDbXref UMLS_CUI:C0015702 semapv:UnspecifiedMatching +DOID:13626 photokeratitis oboInOwl:hasDbXref NCI:C118750 semapv:UnspecifiedMatching +DOID:13626 photokeratitis oboInOwl:hasDbXref UMLS_CUI:C0155078 semapv:UnspecifiedMatching DOID:13628 favism oboInOwl:hasDbXref ICD10CM:D55.0 semapv:UnspecifiedMatching DOID:13628 favism oboInOwl:hasDbXref MESH:D005236 semapv:UnspecifiedMatching +DOID:13628 favism oboInOwl:hasDbXref NCI:C34607 semapv:UnspecifiedMatching +DOID:13628 favism oboInOwl:hasDbXref UMLS_CUI:C0015702 semapv:UnspecifiedMatching DOID:13629 dentine erosion oboInOwl:hasDbXref ICD9CM:521.32 semapv:UnspecifiedMatching DOID:13629 dentine erosion oboInOwl:hasDbXref UMLS_CUI:C1456162 semapv:UnspecifiedMatching -DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref ICD10CM:C31.1 semapv:UnspecifiedMatching -DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref ICD9CM:160.3 semapv:UnspecifiedMatching -DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref NCI:C3541 semapv:UnspecifiedMatching DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153477 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref UMLS_CUI:C0015625 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref ORDO:84 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref OMIMPS:227650 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref MESH:D005199 semapv:UnspecifiedMatching -DOID:13636 Fanconi anemia oboInOwl:hasDbXref ICD10CM:D61.09 semapv:UnspecifiedMatching +DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref NCI:C3541 semapv:UnspecifiedMatching +DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref ICD9CM:160.3 semapv:UnspecifiedMatching +DOID:1363 ethmoid sinus cancer oboInOwl:hasDbXref ICD10CM:C31.1 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref GARD:6425 semapv:UnspecifiedMatching +DOID:13636 Fanconi anemia oboInOwl:hasDbXref ICD10CM:D61.09 semapv:UnspecifiedMatching +DOID:13636 Fanconi anemia oboInOwl:hasDbXref MESH:D005199 semapv:UnspecifiedMatching DOID:13636 Fanconi anemia oboInOwl:hasDbXref NCI:C62505 semapv:UnspecifiedMatching +DOID:13636 Fanconi anemia oboInOwl:hasDbXref OMIMPS:227650 semapv:UnspecifiedMatching +DOID:13636 Fanconi anemia oboInOwl:hasDbXref ORDO:84 semapv:UnspecifiedMatching +DOID:13636 Fanconi anemia oboInOwl:hasDbXref UMLS_CUI:C0015625 semapv:UnspecifiedMatching DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref NCI:C4416 semapv:UnspecifiedMatching DOID:1364 ethmoidal sinus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345668 semapv:UnspecifiedMatching -DOID:13641 exfoliation syndrome oboInOwl:hasDbXref UMLS_CUI:C0206368 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome skos:exactMatch MESH:D017889 semapv:UnspecifiedMatching +DOID:13641 exfoliation syndrome oboInOwl:hasDbXref UMLS_CUI:C0206368 semapv:UnspecifiedMatching +DOID:13641 exfoliation syndrome oboInOwl:hasDbXref NCI:C129025 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref OMIM:177650 semapv:UnspecifiedMatching +DOID:13641 exfoliation syndrome oboInOwl:hasDbXref ICD9CM:365.52 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref EFO:0004235 semapv:UnspecifiedMatching DOID:13641 exfoliation syndrome oboInOwl:hasDbXref MESH:D017889 semapv:UnspecifiedMatching -DOID:13641 exfoliation syndrome oboInOwl:hasDbXref ICD9CM:365.52 semapv:UnspecifiedMatching -DOID:13641 exfoliation syndrome oboInOwl:hasDbXref NCI:C129025 semapv:UnspecifiedMatching DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref ICD9CM:357.1 semapv:UnspecifiedMatching DOID:13649 polyneuropathy in collagen vascular disease oboInOwl:hasDbXref UMLS_CUI:C0154759 semapv:UnspecifiedMatching DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref ICD10CM:H04.52 semapv:UnspecifiedMatching DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref ICD9CM:375.51 semapv:UnspecifiedMatching DOID:13651 eversion of lacrimal punctum oboInOwl:hasDbXref UMLS_CUI:C0155243 semapv:UnspecifiedMatching -DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref UMLS_CUI:C0155244 semapv:UnspecifiedMatching DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref ICD10CM:H04.56 semapv:UnspecifiedMatching DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref ICD9CM:375.52 semapv:UnspecifiedMatching +DOID:13653 stenosis of lacrimal punctum oboInOwl:hasDbXref UMLS_CUI:C0155244 semapv:UnspecifiedMatching DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref UMLS_CUI:C0155245 semapv:UnspecifiedMatching -DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref ICD9CM:375.53 semapv:UnspecifiedMatching DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref ICD10CM:H04.54 semapv:UnspecifiedMatching -DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref ICD10CM:H04.55 semapv:UnspecifiedMatching -DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref ICD9CM:375.56 semapv:UnspecifiedMatching +DOID:13654 stenosis of lacrimal passage oboInOwl:hasDbXref ICD9CM:375.53 semapv:UnspecifiedMatching DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref UMLS_CUI:C0155248 semapv:UnspecifiedMatching +DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref ICD9CM:375.56 semapv:UnspecifiedMatching +DOID:13655 acquired tear duct stenosis oboInOwl:hasDbXref ICD10CM:H04.55 semapv:UnspecifiedMatching DOID:13656 gastrin secretion abnormality oboInOwl:hasDbXref ICD9CM:251.5 semapv:UnspecifiedMatching DOID:13656 gastrin secretion abnormality oboInOwl:hasDbXref UMLS_CUI:C0000774 semapv:UnspecifiedMatching DOID:13658 infective urethral stricture oboInOwl:hasDbXref ICD9CM:598.01 semapv:UnspecifiedMatching @@ -17510,93 +17537,93 @@ DOID:13658 infective urethral stricture oboInOwl:hasDbXref UMLS_CUI:C0156282 sem DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref ICD10CM:K62.6 semapv:UnspecifiedMatching DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref ICD9CM:569.41 semapv:UnspecifiedMatching DOID:13662 ulcer of anus and rectum oboInOwl:hasDbXref UMLS_CUI:C0400832 semapv:UnspecifiedMatching +DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref UMLS_CUI:C0751101 semapv:UnspecifiedMatching DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref ICD10CM:G04.02 semapv:UnspecifiedMatching DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref MESH:D004673 semapv:UnspecifiedMatching -DOID:13664 post-vaccinal encephalitis oboInOwl:hasDbXref UMLS_CUI:C0751101 semapv:UnspecifiedMatching -DOID:13676 posterior scleritis oboInOwl:hasDbXref UMLS_CUI:C0155357 semapv:UnspecifiedMatching DOID:13676 posterior scleritis oboInOwl:hasDbXref ICD9CM:379.07 semapv:UnspecifiedMatching +DOID:13676 posterior scleritis oboInOwl:hasDbXref UMLS_CUI:C0155357 semapv:UnspecifiedMatching DOID:13676 posterior scleritis oboInOwl:hasDbXref ICD10CM:H15.03 semapv:UnspecifiedMatching -DOID:13677 SAPHO syndrome oboInOwl:hasDbXref GARD:7606 semapv:UnspecifiedMatching -DOID:13677 SAPHO syndrome oboInOwl:hasDbXref MESH:D020083 semapv:UnspecifiedMatching -DOID:13677 SAPHO syndrome oboInOwl:hasDbXref NCI:C119049 semapv:UnspecifiedMatching DOID:13677 SAPHO syndrome oboInOwl:hasDbXref UMLS_CUI:C0263859 semapv:UnspecifiedMatching +DOID:13677 SAPHO syndrome oboInOwl:hasDbXref NCI:C119049 semapv:UnspecifiedMatching +DOID:13677 SAPHO syndrome oboInOwl:hasDbXref MESH:D020083 semapv:UnspecifiedMatching +DOID:13677 SAPHO syndrome oboInOwl:hasDbXref GARD:7606 semapv:UnspecifiedMatching DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref ICD10CM:K31.5 semapv:UnspecifiedMatching DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref ICD9CM:537.2 semapv:UnspecifiedMatching DOID:13687 chronic duodenal ileus oboInOwl:hasDbXref UMLS_CUI:C0156087 semapv:UnspecifiedMatching -DOID:13689 prostate calculus oboInOwl:hasDbXref ICD10CM:N42.0 semapv:UnspecifiedMatching -DOID:13689 prostate calculus oboInOwl:hasDbXref ICD9CM:602.0 semapv:UnspecifiedMatching DOID:13689 prostate calculus oboInOwl:hasDbXref NCI:C26936 semapv:UnspecifiedMatching DOID:13689 prostate calculus oboInOwl:hasDbXref UMLS_CUI:C0149525 semapv:UnspecifiedMatching +DOID:13689 prostate calculus oboInOwl:hasDbXref ICD10CM:N42.0 semapv:UnspecifiedMatching +DOID:13689 prostate calculus oboInOwl:hasDbXref ICD9CM:602.0 semapv:UnspecifiedMatching DOID:13690 acute gonococcal cystitis oboInOwl:hasDbXref ICD9CM:098.11 semapv:UnspecifiedMatching DOID:13690 acute gonococcal cystitis oboInOwl:hasDbXref UMLS_CUI:C0153191 semapv:UnspecifiedMatching -DOID:13691 dermoid cyst of skin oboInOwl:hasDbXref UMLS_CUI:C0349502 semapv:UnspecifiedMatching DOID:13691 dermoid cyst of skin oboInOwl:hasDbXref NCI:C4632 semapv:UnspecifiedMatching +DOID:13691 dermoid cyst of skin oboInOwl:hasDbXref UMLS_CUI:C0349502 semapv:UnspecifiedMatching DOID:137 vaginal squamous papilloma oboInOwl:hasDbXref NCI:C6374 semapv:UnspecifiedMatching DOID:137 vaginal squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1336943 semapv:UnspecifiedMatching +DOID:13709 premature ejaculation oboInOwl:hasDbXref UMLS_CUI:C0033038 semapv:UnspecifiedMatching +DOID:13709 premature ejaculation oboInOwl:hasDbXref NCI:C94349 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref ICD10CM:F52.4 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref ICD9CM:302.75 semapv:UnspecifiedMatching DOID:13709 premature ejaculation oboInOwl:hasDbXref MESH:D061686 semapv:UnspecifiedMatching -DOID:13709 premature ejaculation oboInOwl:hasDbXref NCI:C94349 semapv:UnspecifiedMatching -DOID:13709 premature ejaculation oboInOwl:hasDbXref UMLS_CUI:C0033038 semapv:UnspecifiedMatching DOID:1371 uterine corpus adenomatoid tumor oboInOwl:hasDbXref NCI:C27250 semapv:UnspecifiedMatching DOID:1371 uterine corpus adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C1336902 semapv:UnspecifiedMatching -DOID:13711 dental fluorosis oboInOwl:hasDbXref NCI:C85059 semapv:UnspecifiedMatching -DOID:13711 dental fluorosis oboInOwl:hasDbXref MESH:D009050 semapv:UnspecifiedMatching -DOID:13711 dental fluorosis oboInOwl:hasDbXref UMLS_CUI:C0026618 semapv:UnspecifiedMatching DOID:13711 dental fluorosis oboInOwl:hasDbXref ICD10CM:K00.3 semapv:UnspecifiedMatching DOID:13711 dental fluorosis oboInOwl:hasDbXref ICD9CM:520.3 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref GARD:5818 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref ICD10CM:K00.0 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref ICD9CM:520.0 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref NCI:C172328 semapv:UnspecifiedMatching +DOID:13711 dental fluorosis oboInOwl:hasDbXref MESH:D009050 semapv:UnspecifiedMatching +DOID:13711 dental fluorosis oboInOwl:hasDbXref NCI:C85059 semapv:UnspecifiedMatching +DOID:13711 dental fluorosis oboInOwl:hasDbXref UMLS_CUI:C0026618 semapv:UnspecifiedMatching DOID:13714 anodontia oboInOwl:hasDbXref OMIM:206780 semapv:UnspecifiedMatching -DOID:13714 anodontia oboInOwl:hasDbXref UMLS_CUI:C0399352 semapv:UnspecifiedMatching DOID:13714 anodontia skos:exactMatch MESH:D000848 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref UMLS_CUI:C0399352 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref NCI:C172328 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref ICD9CM:520.0 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref ICD10CM:K00.0 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref GARD:5818 semapv:UnspecifiedMatching +DOID:13714 anodontia oboInOwl:hasDbXref MESH:D000848 semapv:UnspecifiedMatching DOID:13717 mature cataract oboInOwl:hasDbXref UMLS_CUI:C0152257 semapv:UnspecifiedMatching DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref MESH:D020818 semapv:UnspecifiedMatching DOID:13722 neuroschistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0752191 semapv:UnspecifiedMatching -DOID:13724 scurvy oboInOwl:hasDbXref OMIM:240400 semapv:UnspecifiedMatching -DOID:13724 scurvy oboInOwl:hasDbXref NCI:C35010 semapv:UnspecifiedMatching -DOID:13724 scurvy oboInOwl:hasDbXref UMLS_CUI:C0036474 semapv:UnspecifiedMatching -DOID:13724 scurvy oboInOwl:hasDbXref ICD10CM:E54 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref GARD:10406 semapv:UnspecifiedMatching +DOID:13724 scurvy oboInOwl:hasDbXref ICD10CM:E54 semapv:UnspecifiedMatching DOID:13724 scurvy oboInOwl:hasDbXref MESH:D012614 semapv:UnspecifiedMatching -DOID:13725 beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching +DOID:13724 scurvy oboInOwl:hasDbXref NCI:C35010 semapv:UnspecifiedMatching +DOID:13724 scurvy oboInOwl:hasDbXref OMIM:240400 semapv:UnspecifiedMatching +DOID:13724 scurvy oboInOwl:hasDbXref UMLS_CUI:C0036474 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref ICD10CM:E51.1 semapv:UnspecifiedMatching +DOID:13725 beriberi skos:exactMatch MESH:D001602 semapv:UnspecifiedMatching +DOID:13725 beriberi oboInOwl:hasDbXref UMLS_CUI:C0005122 semapv:UnspecifiedMatching +DOID:13725 beriberi oboInOwl:hasDbXref NCI:C34418 semapv:UnspecifiedMatching +DOID:13725 beriberi oboInOwl:hasDbXref GARD:9948 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref ICD9CM:265.0 semapv:UnspecifiedMatching DOID:13725 beriberi oboInOwl:hasDbXref MESH:D001602 semapv:UnspecifiedMatching -DOID:13725 beriberi oboInOwl:hasDbXref NCI:C34418 semapv:UnspecifiedMatching -DOID:13725 beriberi oboInOwl:hasDbXref UMLS_CUI:C0005122 semapv:UnspecifiedMatching -DOID:13725 beriberi skos:exactMatch MESH:D001602 semapv:UnspecifiedMatching DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref ICDO:8930/0 semapv:UnspecifiedMatching DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref NCI:C4262 semapv:UnspecifiedMatching DOID:1373 endometrial stromal nodule oboInOwl:hasDbXref UMLS_CUI:C0334485 semapv:UnspecifiedMatching -DOID:13731 malignant secondary hypertension oboInOwl:hasDbXref ICD9CM:405.0 semapv:UnspecifiedMatching DOID:13731 malignant secondary hypertension oboInOwl:hasDbXref UMLS_CUI:C0155617 semapv:UnspecifiedMatching -DOID:13732 panophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0030332 semapv:UnspecifiedMatching +DOID:13731 malignant secondary hypertension oboInOwl:hasDbXref ICD9CM:405.0 semapv:UnspecifiedMatching DOID:13732 panophthalmitis oboInOwl:hasDbXref MESH:D010202 semapv:UnspecifiedMatching +DOID:13732 panophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0030332 semapv:UnspecifiedMatching DOID:13732 panophthalmitis oboInOwl:hasDbXref ICD9CM:360.02 semapv:UnspecifiedMatching -DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref ICD10CM:N71.9 semapv:UnspecifiedMatching DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref ICD9CM:615.9 semapv:UnspecifiedMatching DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref UMLS_CUI:C0269047 semapv:UnspecifiedMatching -DOID:13738 hepatic infarction oboInOwl:hasDbXref ICD10CM:K76.3 semapv:UnspecifiedMatching -DOID:13738 hepatic infarction oboInOwl:hasDbXref ICD9CM:573.4 semapv:UnspecifiedMatching +DOID:13736 uterine inflammatory disease oboInOwl:hasDbXref ICD10CM:N71.9 semapv:UnspecifiedMatching DOID:13738 hepatic infarction oboInOwl:hasDbXref MESH:D000081011 semapv:UnspecifiedMatching DOID:13738 hepatic infarction oboInOwl:hasDbXref UMLS_CUI:C0151731 semapv:UnspecifiedMatching +DOID:13738 hepatic infarction oboInOwl:hasDbXref ICD10CM:K76.3 semapv:UnspecifiedMatching +DOID:13738 hepatic infarction oboInOwl:hasDbXref ICD9CM:573.4 semapv:UnspecifiedMatching DOID:13739 nutmeg liver oboInOwl:hasDbXref ICD10CM:K76.1 semapv:UnspecifiedMatching DOID:13739 nutmeg liver oboInOwl:hasDbXref ICD9CM:573.0 semapv:UnspecifiedMatching DOID:13739 nutmeg liver oboInOwl:hasDbXref UMLS_CUI:C0156195 semapv:UnspecifiedMatching DOID:13742 neurofibroma of spinal cord oboInOwl:hasDbXref NCI:C5145 semapv:UnspecifiedMatching DOID:13742 neurofibroma of spinal cord oboInOwl:hasDbXref UMLS_CUI:C1336047 semapv:UnspecifiedMatching -DOID:13743 spinal cord lipoma oboInOwl:hasDbXref UMLS_CUI:C0347446 semapv:UnspecifiedMatching DOID:13743 spinal cord lipoma oboInOwl:hasDbXref NCI:C4619 semapv:UnspecifiedMatching -DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref UMLS_CUI:C0235815 semapv:UnspecifiedMatching -DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref ICD9CM:771.82 semapv:UnspecifiedMatching +DOID:13743 spinal cord lipoma oboInOwl:hasDbXref UMLS_CUI:C0347446 semapv:UnspecifiedMatching DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref ICD10CM:P39.3 semapv:UnspecifiedMatching -DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref ICD10CM:H04.22 semapv:UnspecifiedMatching +DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref ICD9CM:771.82 semapv:UnspecifiedMatching +DOID:1375 neonatal urinary tract infectious disease oboInOwl:hasDbXref UMLS_CUI:C0235815 semapv:UnspecifiedMatching DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref ICD9CM:375.22 semapv:UnspecifiedMatching DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref UMLS_CUI:C0155234 semapv:UnspecifiedMatching +DOID:13756 epiphora due to insufficient drainage oboInOwl:hasDbXref ICD10CM:H04.22 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref ICD10CM:H04.2 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref ICD9CM:375.2 semapv:UnspecifiedMatching DOID:13757 excessive tearing oboInOwl:hasDbXref MESH:D007766 semapv:UnspecifiedMatching @@ -17606,138 +17633,138 @@ DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref ICD10CM:B85.3 semapv:Uns DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref ICD9CM:132.2 semapv:UnspecifiedMatching DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref NCI:C35777 semapv:UnspecifiedMatching DOID:13760 Pthirus pubis infestation oboInOwl:hasDbXref UMLS_CUI:C0030759 semapv:UnspecifiedMatching -DOID:13767 clonorchiasis oboInOwl:hasDbXref UMLS_CUI:C0009021 semapv:UnspecifiedMatching -DOID:13767 clonorchiasis oboInOwl:hasDbXref MESH:D003003 semapv:UnspecifiedMatching DOID:13767 clonorchiasis oboInOwl:hasDbXref ICD10CM:B66.1 semapv:UnspecifiedMatching DOID:13767 clonorchiasis oboInOwl:hasDbXref ICD9CM:121.1 semapv:UnspecifiedMatching -DOID:13768 opisthorchiasis oboInOwl:hasDbXref GARD:9746 semapv:UnspecifiedMatching -DOID:13768 opisthorchiasis oboInOwl:hasDbXref ICD10CM:B66.0 semapv:UnspecifiedMatching +DOID:13767 clonorchiasis oboInOwl:hasDbXref MESH:D003003 semapv:UnspecifiedMatching +DOID:13767 clonorchiasis oboInOwl:hasDbXref UMLS_CUI:C0009021 semapv:UnspecifiedMatching +DOID:13768 opisthorchiasis oboInOwl:hasDbXref UMLS_CUI:C0029106 semapv:UnspecifiedMatching DOID:13768 opisthorchiasis oboInOwl:hasDbXref ICD9CM:121.0 semapv:UnspecifiedMatching DOID:13768 opisthorchiasis oboInOwl:hasDbXref MESH:D009889 semapv:UnspecifiedMatching -DOID:13768 opisthorchiasis oboInOwl:hasDbXref UMLS_CUI:C0029106 semapv:UnspecifiedMatching +DOID:13768 opisthorchiasis oboInOwl:hasDbXref GARD:9746 semapv:UnspecifiedMatching +DOID:13768 opisthorchiasis oboInOwl:hasDbXref ICD10CM:B66.0 semapv:UnspecifiedMatching +DOID:13774 Addison's disease oboInOwl:hasDbXref UMLS_CUI:C0001403 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref GARD:5740 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref ICD10CM:E27.1 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref MESH:D000224 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref NCI:C26689 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref OMIM:103230 semapv:UnspecifiedMatching DOID:13774 Addison's disease oboInOwl:hasDbXref OMIM:240200 semapv:UnspecifiedMatching -DOID:13774 Addison's disease oboInOwl:hasDbXref UMLS_CUI:C0001403 semapv:UnspecifiedMatching -DOID:13775 plantar wart oboInOwl:hasDbXref UMLS_CUI:C0042548 semapv:UnspecifiedMatching -DOID:13775 plantar wart oboInOwl:hasDbXref NCI:C26913 semapv:UnspecifiedMatching -DOID:13775 plantar wart oboInOwl:hasDbXref ICD9CM:078.12 semapv:UnspecifiedMatching DOID:13775 plantar wart oboInOwl:hasDbXref ICD10CM:B07.0 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref GARD:6357 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref NCI:C126877 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref OMIMPS:226400 semapv:UnspecifiedMatching -DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref ORDO:302 semapv:UnspecifiedMatching +DOID:13775 plantar wart oboInOwl:hasDbXref ICD9CM:078.12 semapv:UnspecifiedMatching +DOID:13775 plantar wart oboInOwl:hasDbXref NCI:C26913 semapv:UnspecifiedMatching +DOID:13775 plantar wart oboInOwl:hasDbXref UMLS_CUI:C0042548 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS_CUI:C0014522 semapv:UnspecifiedMatching +DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref NCI:C126877 semapv:UnspecifiedMatching DOID:13777 epidermodysplasia verruciformis skos:exactMatch MESH:D004819 semapv:UnspecifiedMatching +DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref ORDO:302 semapv:UnspecifiedMatching +DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching +DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref GARD:6357 semapv:UnspecifiedMatching +DOID:13777 epidermodysplasia verruciformis oboInOwl:hasDbXref OMIMPS:226400 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref GARD:9522 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref ICD10CM:A57 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref ICD9CM:099.0 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref MESH:D002602 semapv:UnspecifiedMatching DOID:13778 chancroid oboInOwl:hasDbXref UMLS_CUI:C0007947 semapv:UnspecifiedMatching DOID:13781 hypermobility syndrome oboInOwl:hasDbXref UMLS_CUI:C0152093 semapv:UnspecifiedMatching -DOID:13781 hypermobility syndrome oboInOwl:hasDbXref ICD9CM:728.5 semapv:UnspecifiedMatching DOID:13781 hypermobility syndrome oboInOwl:hasDbXref ICD10CM:M35.7 semapv:UnspecifiedMatching -DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref ICD10CM:H15.82 semapv:UnspecifiedMatching +DOID:13781 hypermobility syndrome oboInOwl:hasDbXref ICD9CM:728.5 semapv:UnspecifiedMatching DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref ICD9CM:379.14 semapv:UnspecifiedMatching DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155362 semapv:UnspecifiedMatching -DOID:13788 equatorial staphyloma oboInOwl:hasDbXref ICD10CM:H15.81 semapv:UnspecifiedMatching +DOID:13787 localized anterior staphyloma oboInOwl:hasDbXref ICD10CM:H15.82 semapv:UnspecifiedMatching DOID:13788 equatorial staphyloma oboInOwl:hasDbXref ICD9CM:379.13 semapv:UnspecifiedMatching DOID:13788 equatorial staphyloma oboInOwl:hasDbXref UMLS_CUI:C0155361 semapv:UnspecifiedMatching +DOID:13788 equatorial staphyloma oboInOwl:hasDbXref ICD10CM:H15.81 semapv:UnspecifiedMatching DOID:13789 staphyloma posticum oboInOwl:hasDbXref ICD10CM:H15.83 semapv:UnspecifiedMatching DOID:13789 staphyloma posticum oboInOwl:hasDbXref ICD9CM:379.12 semapv:UnspecifiedMatching DOID:13789 staphyloma posticum oboInOwl:hasDbXref UMLS_CUI:C0155360 semapv:UnspecifiedMatching DOID:13790 acute tympanitis oboInOwl:hasDbXref ICD10CM:H73.0 semapv:UnspecifiedMatching DOID:13790 acute tympanitis oboInOwl:hasDbXref ICD9CM:384.00 semapv:UnspecifiedMatching DOID:13790 acute tympanitis oboInOwl:hasDbXref UMLS_CUI:C0155460 semapv:UnspecifiedMatching +DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref ICD10CM:H73.01 semapv:UnspecifiedMatching DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref ICD9CM:384.01 semapv:UnspecifiedMatching DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref UMLS_CUI:C0155461 semapv:UnspecifiedMatching -DOID:13791 myringitis bullosa hemorrhagica oboInOwl:hasDbXref ICD10CM:H73.01 semapv:UnspecifiedMatching DOID:13794 anterior scleritis oboInOwl:hasDbXref ICD10CM:H15.01 semapv:UnspecifiedMatching DOID:13794 anterior scleritis oboInOwl:hasDbXref ICD9CM:379.03 semapv:UnspecifiedMatching DOID:13794 anterior scleritis oboInOwl:hasDbXref UMLS_CUI:C0155353 semapv:UnspecifiedMatching -DOID:13799 female breast central part cancer oboInOwl:hasDbXref ICD10CM:C50.11 semapv:UnspecifiedMatching DOID:13799 female breast central part cancer oboInOwl:hasDbXref ICD9CM:174.1 semapv:UnspecifiedMatching DOID:13799 female breast central part cancer oboInOwl:hasDbXref UMLS_CUI:C0153549 semapv:UnspecifiedMatching +DOID:13799 female breast central part cancer oboInOwl:hasDbXref ICD10CM:C50.11 semapv:UnspecifiedMatching DOID:138 vaginal squamous tumor oboInOwl:hasDbXref NCI:C40242 semapv:UnspecifiedMatching DOID:138 vaginal squamous tumor oboInOwl:hasDbXref UMLS_CUI:C1519931 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C0014170 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C0007103 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref OMIM:608089 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C3012 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C27815 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref KEGG:05213 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref ICD10CM:C54.1 semapv:UnspecifiedMatching -DOID:1380 endometrial cancer oboInOwl:hasDbXref GARD:11981 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref EFO:0004230 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref GARD:11981 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref ICD10CM:C54.1 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref KEGG:05213 semapv:UnspecifiedMatching DOID:1380 endometrial cancer oboInOwl:hasDbXref MESH:D016889 semapv:UnspecifiedMatching -DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref GARD:6777 semapv:UnspecifiedMatching -DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD10CM:A74.0 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C27815 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref NCI:C3012 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref OMIM:608089 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C0007103 semapv:UnspecifiedMatching +DOID:1380 endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C0014170 semapv:UnspecifiedMatching +DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009770 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD9CM:077.0 semapv:UnspecifiedMatching DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref MESH:D003235 semapv:UnspecifiedMatching -DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009770 semapv:UnspecifiedMatching +DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref GARD:6777 semapv:UnspecifiedMatching +DOID:13800 inclusion conjunctivitis oboInOwl:hasDbXref ICD10CM:A74.0 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref ICD9CM:077.2 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref MESH:D000258 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref NCI:C34924 semapv:UnspecifiedMatching DOID:13801 pharyngoconjunctival fever oboInOwl:hasDbXref UMLS_CUI:C0031351 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020474 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref NCI:C35637 semapv:UnspecifiedMatching -DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref MESH:D006950 semapv:UnspecifiedMatching DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref ICD10CM:E78.49 semapv:UnspecifiedMatching -DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref GARD:6462 semapv:UnspecifiedMatching -DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD10CM:L75.2 semapv:UnspecifiedMatching -DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD9CM:705.82 semapv:UnspecifiedMatching -DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref MESH:D005588 semapv:UnspecifiedMatching +DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref MESH:D006950 semapv:UnspecifiedMatching +DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref NCI:C35637 semapv:UnspecifiedMatching +DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref OMIM:144250 semapv:UnspecifiedMatching +DOID:13809 familial combined hyperlipidemia oboInOwl:hasDbXref UMLS_CUI:C0020474 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref NCI:C84716 semapv:UnspecifiedMatching DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref UMLS_CUI:C0016632 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ORDO:406 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref NCI:C34704 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref UMLS_CUI:C0020445 semapv:UnspecifiedMatching -DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.01 semapv:UnspecifiedMatching +DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref MESH:D005588 semapv:UnspecifiedMatching +DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD9CM:705.82 semapv:UnspecifiedMatching +DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref ICD10CM:L75.2 semapv:UnspecifiedMatching +DOID:1381 Fox-Fordyce disease oboInOwl:hasDbXref GARD:6462 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref GARD:10416 semapv:UnspecifiedMatching +DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ICD10CM:E78.01 semapv:UnspecifiedMatching DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref MESH:D006938 semapv:UnspecifiedMatching +DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref NCI:C34704 semapv:UnspecifiedMatching +DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref OMIM:143890 semapv:UnspecifiedMatching +DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref ORDO:406 semapv:UnspecifiedMatching +DOID:13810 familial hypercholesterolemia oboInOwl:hasDbXref UMLS_CUI:C0020445 semapv:UnspecifiedMatching DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref ICD9CM:621.1 semapv:UnspecifiedMatching DOID:13811 chronic subinvolution of uterus oboInOwl:hasDbXref UMLS_CUI:C0156370 semapv:UnspecifiedMatching DOID:13812 adhesions of uterus oboInOwl:hasDbXref UMLS_CUI:C0241593 semapv:UnspecifiedMatching -DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152181 semapv:UnspecifiedMatching -DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref NCI:C26954 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref MESH:D020437 semapv:UnspecifiedMatching +DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref NCI:C26954 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref ICD10CM:G52.3 semapv:UnspecifiedMatching DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref ICD9CM:352.5 semapv:UnspecifiedMatching +DOID:13814 hypoglossal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152181 semapv:UnspecifiedMatching +DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref NCI:C26822 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref UMLS_CUI:C0024286 semapv:UnspecifiedMatching -DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref GARD:9545 semapv:UnspecifiedMatching +DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref MESH:D008219 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref ICD10CM:A55 semapv:UnspecifiedMatching DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref ICD9CM:099.1 semapv:UnspecifiedMatching -DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref MESH:D008219 semapv:UnspecifiedMatching -DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref NCI:C26822 semapv:UnspecifiedMatching +DOID:13819 lymphogranuloma venereum oboInOwl:hasDbXref GARD:9545 semapv:UnspecifiedMatching +DOID:1382 miliaria oboInOwl:hasDbXref ICD10CM:L74.3 semapv:UnspecifiedMatching DOID:1382 miliaria oboInOwl:hasDbXref MESH:D008883 semapv:UnspecifiedMatching DOID:1382 miliaria oboInOwl:hasDbXref NCI:C34820 semapv:UnspecifiedMatching -DOID:1382 miliaria oboInOwl:hasDbXref ICD10CM:L74.3 semapv:UnspecifiedMatching DOID:1382 miliaria oboInOwl:hasDbXref UMLS_CUI:C0026113 semapv:UnspecifiedMatching -DOID:13822 tetanic cataract oboInOwl:hasDbXref UMLS_CUI:C0039613 semapv:UnspecifiedMatching -DOID:13822 tetanic cataract oboInOwl:hasDbXref NCI:C35068 semapv:UnspecifiedMatching DOID:13822 tetanic cataract oboInOwl:hasDbXref ICD9CM:366.42 semapv:UnspecifiedMatching +DOID:13822 tetanic cataract oboInOwl:hasDbXref NCI:C35068 semapv:UnspecifiedMatching +DOID:13822 tetanic cataract oboInOwl:hasDbXref UMLS_CUI:C0039613 semapv:UnspecifiedMatching DOID:13823 parasitic eyelid infestation oboInOwl:hasDbXref ICD9CM:373.6 semapv:UnspecifiedMatching DOID:13823 parasitic eyelid infestation oboInOwl:hasDbXref UMLS_CUI:C0155183 semapv:UnspecifiedMatching DOID:13825 squamous blepharitis oboInOwl:hasDbXref ICD10CM:H01.02 semapv:UnspecifiedMatching DOID:13825 squamous blepharitis oboInOwl:hasDbXref ICD9CM:373.02 semapv:UnspecifiedMatching DOID:13825 squamous blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155174 semapv:UnspecifiedMatching -DOID:1383 sweat gland disease oboInOwl:hasDbXref ICD10CM:L74.9 semapv:UnspecifiedMatching -DOID:1383 sweat gland disease oboInOwl:hasDbXref ICD9CM:705.9 semapv:UnspecifiedMatching -DOID:1383 sweat gland disease oboInOwl:hasDbXref MESH:D013543 semapv:UnspecifiedMatching DOID:1383 sweat gland disease oboInOwl:hasDbXref UMLS_CUI:C0038986 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref UMLS_CUI:C0013274 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref NCI:C84492 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref MESH:D004374 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref OMIM:607411 semapv:UnspecifiedMatching -DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD10CM:Q25.0 semapv:UnspecifiedMatching +DOID:1383 sweat gland disease oboInOwl:hasDbXref MESH:D013543 semapv:UnspecifiedMatching +DOID:1383 sweat gland disease oboInOwl:hasDbXref ICD9CM:705.9 semapv:UnspecifiedMatching +DOID:1383 sweat gland disease oboInOwl:hasDbXref ICD10CM:L74.9 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref GARD:7342 semapv:UnspecifiedMatching +DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD10CM:Q25.0 semapv:UnspecifiedMatching DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref ICD9CM:747.0 semapv:UnspecifiedMatching +DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref MESH:D004374 semapv:UnspecifiedMatching +DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref NCI:C84492 semapv:UnspecifiedMatching +DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref OMIM:607411 semapv:UnspecifiedMatching +DOID:13832 patent ductus arteriosus oboInOwl:hasDbXref UMLS_CUI:C0013274 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref ICD10CM:G25.9 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref ICD9CM:333.90 semapv:UnspecifiedMatching DOID:13839 extrapyramidal and movement disease oboInOwl:hasDbXref UMLS_CUI:C0477355 semapv:UnspecifiedMatching @@ -17748,98 +17775,98 @@ DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:Unspecifie DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref GARD:5 semapv:UnspecifiedMatching DOID:1386 abetalipoproteinemia oboInOwl:hasDbXref NCI:C84525 semapv:UnspecifiedMatching -DOID:13861 scleroperikeratitis oboInOwl:hasDbXref UMLS_CUI:C0155355 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref ICD10CM:H15.04 semapv:UnspecifiedMatching DOID:13861 scleroperikeratitis oboInOwl:hasDbXref ICD9CM:379.05 semapv:UnspecifiedMatching -DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154946 semapv:UnspecifiedMatching +DOID:13861 scleroperikeratitis oboInOwl:hasDbXref UMLS_CUI:C0155355 semapv:UnspecifiedMatching DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.21 semapv:UnspecifiedMatching DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.22 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref ICD10CM:H49.1 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref ICD9CM:378.53 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref MESH:D020432 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref NCI:C180994 semapv:UnspecifiedMatching -DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0271375 semapv:UnspecifiedMatching +DOID:13862 acute closed-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154946 semapv:UnspecifiedMatching DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0423092 semapv:UnspecifiedMatching DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0751939 semapv:UnspecifiedMatching -DOID:13865 facial neuralgia oboInOwl:hasDbXref MESH:D005156 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref NCI:C180994 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref UMLS_CUI:C0271375 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref ICD9CM:378.53 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref ICD10CM:H49.1 semapv:UnspecifiedMatching +DOID:13864 trochlear nerve disease oboInOwl:hasDbXref MESH:D020432 semapv:UnspecifiedMatching +DOID:13865 facial neuralgia oboInOwl:hasDbXref MESH:D005156 semapv:UnspecifiedMatching DOID:13865 facial neuralgia oboInOwl:hasDbXref UMLS_CUI:C0015467 semapv:UnspecifiedMatching -DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0154733 semapv:UnspecifiedMatching DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref ICD10CM:G52.7 semapv:UnspecifiedMatching DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref ICD9CM:352.6 semapv:UnspecifiedMatching -DOID:13867 focal labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155505 semapv:UnspecifiedMatching +DOID:13866 multiple cranial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0154733 semapv:UnspecifiedMatching DOID:13867 focal labyrinthitis oboInOwl:hasDbXref ICD9CM:386.32 semapv:UnspecifiedMatching +DOID:13867 focal labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155505 semapv:UnspecifiedMatching +DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref NCI:C94337 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref ICD10CM:F52.0 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref ICD9CM:302.71 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref MESH:D020018 semapv:UnspecifiedMatching -DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref NCI:C94337 semapv:UnspecifiedMatching DOID:13868 hypoactive sexual desire disorder oboInOwl:hasDbXref UMLS_CUI:C0020594 semapv:UnspecifiedMatching -DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref GARD:8394 semapv:UnspecifiedMatching -DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching -DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref ICD9CM:272.5 semapv:UnspecifiedMatching -DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref MESH:D007009 semapv:UnspecifiedMatching DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref UMLS_CUI:C0020623 semapv:UnspecifiedMatching +DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref MESH:D007009 semapv:UnspecifiedMatching +DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref ICD9CM:272.5 semapv:UnspecifiedMatching +DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching +DOID:1387 hypolipoproteinemia oboInOwl:hasDbXref GARD:8394 semapv:UnspecifiedMatching +DOID:1388 Tangier disease oboInOwl:hasDbXref GARD:7731 semapv:UnspecifiedMatching +DOID:1388 Tangier disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching +DOID:1388 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching +DOID:1388 Tangier disease oboInOwl:hasDbXref NCI:C85182 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref OMIM:205400 semapv:UnspecifiedMatching DOID:1388 Tangier disease oboInOwl:hasDbXref UMLS_CUI:C0039292 semapv:UnspecifiedMatching -DOID:1388 Tangier disease oboInOwl:hasDbXref NCI:C85182 semapv:UnspecifiedMatching DOID:1388 Tangier disease skos:exactMatch MESH:D013631 semapv:UnspecifiedMatching -DOID:1388 Tangier disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching -DOID:1388 Tangier disease oboInOwl:hasDbXref GARD:7731 semapv:UnspecifiedMatching -DOID:1388 Tangier disease oboInOwl:hasDbXref MESH:D013631 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome skos:exactMatch MESH:D012804 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref UMLS_CUI:C0037052 semapv:UnspecifiedMatching -DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ORDO:166282 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref OMIM:608567 semapv:UnspecifiedMatching -DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ICD10CM:I49.5 semapv:UnspecifiedMatching +DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ORDO:166282 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref NCI:C62244 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref MESH:D012804 semapv:UnspecifiedMatching +DOID:13884 sick sinus syndrome oboInOwl:hasDbXref ICD10CM:I49.5 semapv:UnspecifiedMatching DOID:13884 sick sinus syndrome oboInOwl:hasDbXref OMIM:163800 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref ICD10CM:A69.22 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref MESH:D011115 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref NCI:C26951 semapv:UnspecifiedMatching DOID:1389 polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0152025 semapv:UnspecifiedMatching +DOID:13891 bird fancier's lung oboInOwl:hasDbXref UMLS_CUI:C0005592 semapv:UnspecifiedMatching +DOID:13891 bird fancier's lung oboInOwl:hasDbXref NCI:C34425 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref ICD10CM:J67.2 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref ICD9CM:495.2 semapv:UnspecifiedMatching DOID:13891 bird fancier's lung oboInOwl:hasDbXref MESH:D001716 semapv:UnspecifiedMatching -DOID:13891 bird fancier's lung oboInOwl:hasDbXref NCI:C34425 semapv:UnspecifiedMatching -DOID:13891 bird fancier's lung oboInOwl:hasDbXref UMLS_CUI:C0005592 semapv:UnspecifiedMatching -DOID:139 squamous cell papilloma oboInOwl:hasDbXref UMLS_CUI:C0205874 semapv:UnspecifiedMatching DOID:139 squamous cell papilloma oboInOwl:hasDbXref NCI:C3712 semapv:UnspecifiedMatching DOID:139 squamous cell papilloma oboInOwl:hasDbXref ICDO:8052/0 semapv:UnspecifiedMatching DOID:139 squamous cell papilloma oboInOwl:hasDbXref MESH:D010212 semapv:UnspecifiedMatching -DOID:1390 hypobetalipoproteinemia oboInOwl:hasDbXref MESH:D006995 semapv:UnspecifiedMatching +DOID:139 squamous cell papilloma oboInOwl:hasDbXref UMLS_CUI:C0205874 semapv:UnspecifiedMatching DOID:1390 hypobetalipoproteinemia oboInOwl:hasDbXref UMLS_CUI:C0020597 semapv:UnspecifiedMatching +DOID:1390 hypobetalipoproteinemia oboInOwl:hasDbXref MESH:D006995 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref ICD10CM:B36.2 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref ICD9CM:111.2 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref MESH:D010854 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref UMLS_CUI:C0031898 semapv:UnspecifiedMatching DOID:13902 white piedra oboInOwl:hasDbXref UMLS_CUI:C0040249 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness oboInOwl:hasDbXref UMLS_CUI:C0155016 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness oboInOwl:hasDbXref ORDO:319698 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness oboInOwl:hasDbXref OMIM:303800 semapv:UnspecifiedMatching -DOID:13909 red-green color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13909 red-green color blindness oboInOwl:hasDbXref ICD9CM:368.52 semapv:UnspecifiedMatching +DOID:13909 red-green color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching +DOID:13909 red-green color blindness oboInOwl:hasDbXref OMIM:303800 semapv:UnspecifiedMatching +DOID:13909 red-green color blindness oboInOwl:hasDbXref ORDO:319698 semapv:UnspecifiedMatching +DOID:13909 red-green color blindness oboInOwl:hasDbXref UMLS_CUI:C0155016 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref UMLS_CUI:C0023195 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref OMIM:245900 semapv:UnspecifiedMatching +DOID:1391 Norum disease oboInOwl:hasDbXref NCI:C84813 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref MESH:D007863 semapv:UnspecifiedMatching DOID:1391 Norum disease oboInOwl:hasDbXref ICD10CM:E78.6 semapv:UnspecifiedMatching -DOID:1391 Norum disease oboInOwl:hasDbXref NCI:C84813 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref ICD9CM:368.51 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref OMIM:303900 semapv:UnspecifiedMatching DOID:13910 red color blindness oboInOwl:hasDbXref UMLS_CUI:C0155015 semapv:UnspecifiedMatching -DOID:13911 achromatopsia oboInOwl:hasDbXref UMLS_CUI:C0152200 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ICD10CM:H53.51 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ICD9CM:368.54 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref NCI:C84528 semapv:UnspecifiedMatching DOID:13911 achromatopsia oboInOwl:hasDbXref ORDO:49382 semapv:UnspecifiedMatching -DOID:13912 acquired color blindness oboInOwl:hasDbXref UMLS_CUI:C0155018 semapv:UnspecifiedMatching +DOID:13911 achromatopsia oboInOwl:hasDbXref UMLS_CUI:C0152200 semapv:UnspecifiedMatching DOID:13912 acquired color blindness oboInOwl:hasDbXref NCI:C118712 semapv:UnspecifiedMatching -DOID:13912 acquired color blindness oboInOwl:hasDbXref ICD9CM:368.55 semapv:UnspecifiedMatching -DOID:13912 acquired color blindness oboInOwl:hasDbXref ICD10CM:H53.52 semapv:UnspecifiedMatching DOID:13912 acquired color blindness oboInOwl:hasDbXref MESH:D003117 semapv:UnspecifiedMatching -DOID:13913 lumbosacral plexus lesion oboInOwl:hasDbXref ICD9CM:353.1 semapv:UnspecifiedMatching +DOID:13912 acquired color blindness oboInOwl:hasDbXref UMLS_CUI:C0155018 semapv:UnspecifiedMatching +DOID:13912 acquired color blindness oboInOwl:hasDbXref ICD10CM:H53.52 semapv:UnspecifiedMatching +DOID:13912 acquired color blindness oboInOwl:hasDbXref ICD9CM:368.55 semapv:UnspecifiedMatching DOID:13913 lumbosacral plexus lesion oboInOwl:hasDbXref UMLS_CUI:C0154735 semapv:UnspecifiedMatching +DOID:13913 lumbosacral plexus lesion oboInOwl:hasDbXref ICD9CM:353.1 semapv:UnspecifiedMatching DOID:13918 somatization disorder oboInOwl:hasDbXref ICD10CM:F45.0 semapv:UnspecifiedMatching DOID:13918 somatization disorder oboInOwl:hasDbXref ICD9CM:300.81 semapv:UnspecifiedMatching DOID:13918 somatization disorder oboInOwl:hasDbXref MESH:D013001 semapv:UnspecifiedMatching @@ -17847,31 +17874,31 @@ DOID:13918 somatization disorder oboInOwl:hasDbXref UMLS_CUI:C0520482 semapv:Uns DOID:13919 irregular astigmatism oboInOwl:hasDbXref ICD10CM:H52.21 semapv:UnspecifiedMatching DOID:13919 irregular astigmatism oboInOwl:hasDbXref ICD9CM:367.22 semapv:UnspecifiedMatching DOID:13919 irregular astigmatism oboInOwl:hasDbXref UMLS_CUI:C0152194 semapv:UnspecifiedMatching -DOID:1392 pseudopapilledema oboInOwl:hasDbXref OMIM:177800 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref UMLS_CUI:C0155300 semapv:UnspecifiedMatching +DOID:1392 pseudopapilledema oboInOwl:hasDbXref OMIM:177800 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref MESH:C562401 semapv:UnspecifiedMatching DOID:1392 pseudopapilledema oboInOwl:hasDbXref ICD9CM:377.24 semapv:UnspecifiedMatching DOID:13921 bacterial esophagitis oboInOwl:hasDbXref NCI:C27106 semapv:UnspecifiedMatching DOID:13921 bacterial esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341108 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref EFO:0004232 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341106 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ORDO:73247 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:613412 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:610247 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD10CM:K20.0 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD9CM:530.13 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref MESH:D057765 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ICD9CM:530.13 semapv:UnspecifiedMatching +DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref EFO:0004232 semapv:UnspecifiedMatching DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref NCI:C27105 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:610247 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref OMIM:613412 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref ORDO:73247 semapv:UnspecifiedMatching -DOID:13922 eosinophilic esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341106 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS_CUI:C1527368 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS_CUI:C0017575 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref NCI:C34637 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref MESH:D005892 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref ICD9CM:101 semapv:UnspecifiedMatching -DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref ICD10CM:A69.1 semapv:UnspecifiedMatching DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref GARD:5736 semapv:UnspecifiedMatching -DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref MESH:D007767 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref ICD10CM:A69.1 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref ICD9CM:101 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref MESH:D005892 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref NCI:C34637 semapv:UnspecifiedMatching +DOID:13924 necrotizing ulcerative gingivitis oboInOwl:hasDbXref UMLS_CUI:C0017575 semapv:UnspecifiedMatching DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref NCI:C34757 semapv:UnspecifiedMatching DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref UMLS_CUI:C0022906 semapv:UnspecifiedMatching +DOID:13929 lacrimal duct obstruction oboInOwl:hasDbXref MESH:D007767 semapv:UnspecifiedMatching DOID:1393 visual pathway disease oboInOwl:hasDbXref ICD10CM:H47.9 semapv:UnspecifiedMatching DOID:1393 visual pathway disease oboInOwl:hasDbXref NCI:C35342 semapv:UnspecifiedMatching DOID:1393 visual pathway disease oboInOwl:hasDbXref UMLS_CUI:C0155287 semapv:UnspecifiedMatching @@ -17879,16 +17906,16 @@ DOID:13934 facial paralysis oboInOwl:hasDbXref ICD10CM:G51.0 semapv:UnspecifiedM DOID:13934 facial paralysis oboInOwl:hasDbXref MESH:D005158 semapv:UnspecifiedMatching DOID:13934 facial paralysis oboInOwl:hasDbXref NCI:C26769 semapv:UnspecifiedMatching DOID:13934 facial paralysis oboInOwl:hasDbXref UMLS_CUI:C0015469 semapv:UnspecifiedMatching -DOID:13938 amenorrhea skos:exactMatch MESH:D000568 semapv:UnspecifiedMatching -DOID:13938 amenorrhea oboInOwl:hasDbXref UMLS_CUI:C0002453 semapv:UnspecifiedMatching -DOID:13938 amenorrhea oboInOwl:hasDbXref NCI:C61443 semapv:UnspecifiedMatching -DOID:13938 amenorrhea oboInOwl:hasDbXref MESH:D000568 semapv:UnspecifiedMatching -DOID:13938 amenorrhea oboInOwl:hasDbXref ICD9CM:626.0 semapv:UnspecifiedMatching DOID:13938 amenorrhea oboInOwl:hasDbXref ICD10CM:N91.2 semapv:UnspecifiedMatching -DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref ICD9CM:120.0 semapv:UnspecifiedMatching +DOID:13938 amenorrhea oboInOwl:hasDbXref ICD9CM:626.0 semapv:UnspecifiedMatching +DOID:13938 amenorrhea oboInOwl:hasDbXref MESH:D000568 semapv:UnspecifiedMatching +DOID:13938 amenorrhea oboInOwl:hasDbXref NCI:C61443 semapv:UnspecifiedMatching +DOID:13938 amenorrhea oboInOwl:hasDbXref UMLS_CUI:C0002453 semapv:UnspecifiedMatching +DOID:13938 amenorrhea skos:exactMatch MESH:D000568 semapv:UnspecifiedMatching DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref MESH:D012553 semapv:UnspecifiedMatching -DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref NCI:C39294 semapv:UnspecifiedMatching DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0276926 semapv:UnspecifiedMatching +DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref ICD9CM:120.0 semapv:UnspecifiedMatching +DOID:1394 urinary schistosomiasis oboInOwl:hasDbXref NCI:C39294 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref GARD:5915 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref ICD9CM:386.11 semapv:UnspecifiedMatching DOID:13941 benign paroxysmal positional vertigo oboInOwl:hasDbXref MESH:D065635 semapv:UnspecifiedMatching @@ -17899,26 +17926,26 @@ DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref ICD9CM:098.17 semapv: DOID:13942 acute gonococcal salpingitis oboInOwl:hasDbXref UMLS_CUI:C0275654 semapv:UnspecifiedMatching DOID:13943 acute gonococcal prostatitis oboInOwl:hasDbXref UMLS_CUI:C0153192 semapv:UnspecifiedMatching DOID:13943 acute gonococcal prostatitis oboInOwl:hasDbXref ICD9CM:098.12 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref GARD:1049 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref ICD10CM:I67.850 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref NCI:C84606 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching -DOID:13945 CADASIL oboInOwl:hasDbXref OMIMPS:125310 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref ORDO:136 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref OMIMPS:125310 semapv:UnspecifiedMatching DOID:13945 CADASIL oboInOwl:hasDbXref UMLS_CUI:C0751587 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref OMIM:600142 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref MESH:D046589 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref NCI:C84606 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref ICD10CM:I67.850 semapv:UnspecifiedMatching +DOID:13945 CADASIL oboInOwl:hasDbXref GARD:1049 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref ICD10CM:N32.0 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref ICD9CM:596.0 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref MESH:D001748 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref NCI:C79541 semapv:UnspecifiedMatching DOID:13948 bladder neck obstruction oboInOwl:hasDbXref UMLS_CUI:C0005694 semapv:UnspecifiedMatching +DOID:13949 interstitial cystitis oboInOwl:hasDbXref GARD:6787 semapv:UnspecifiedMatching +DOID:13949 interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching DOID:13949 interstitial cystitis oboInOwl:hasDbXref NCI:C27189 semapv:UnspecifiedMatching DOID:13949 interstitial cystitis oboInOwl:hasDbXref UMLS_CUI:C0282488 semapv:UnspecifiedMatching -DOID:13949 interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching -DOID:13949 interstitial cystitis oboInOwl:hasDbXref GARD:6787 semapv:UnspecifiedMatching -DOID:1395 schistosomiasis oboInOwl:hasDbXref GARD:9687 semapv:UnspecifiedMatching DOID:1395 schistosomiasis oboInOwl:hasDbXref ICD9CM:120.8 semapv:UnspecifiedMatching DOID:1395 schistosomiasis oboInOwl:hasDbXref UMLS_CUI:C0029827 semapv:UnspecifiedMatching +DOID:1395 schistosomiasis oboInOwl:hasDbXref GARD:9687 semapv:UnspecifiedMatching DOID:13951 uterine corpus epithelioid leiomyoma oboInOwl:hasDbXref NCI:C40164 semapv:UnspecifiedMatching DOID:13951 uterine corpus epithelioid leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519850 semapv:UnspecifiedMatching DOID:13953 uterine corpus dissecting leiomyoma oboInOwl:hasDbXref NCI:C40172 semapv:UnspecifiedMatching @@ -17928,12 +17955,12 @@ DOID:13955 uterus interstitial leiomyoma oboInOwl:hasDbXref ICD9CM:218.1 semapv: DOID:13955 uterus interstitial leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0153994 semapv:UnspecifiedMatching DOID:13956 uterine corpus myxoid leiomyoma oboInOwl:hasDbXref NCI:C40166 semapv:UnspecifiedMatching DOID:13956 uterine corpus myxoid leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519860 semapv:UnspecifiedMatching -DOID:13957 uterine corpus lipoleiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519856 semapv:UnspecifiedMatching DOID:13957 uterine corpus lipoleiomyoma oboInOwl:hasDbXref NCI:C40168 semapv:UnspecifiedMatching -DOID:13958 uterine corpus bizarre leiomyoma oboInOwl:hasDbXref NCI:C40167 semapv:UnspecifiedMatching +DOID:13957 uterine corpus lipoleiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519856 semapv:UnspecifiedMatching DOID:13958 uterine corpus bizarre leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519853 semapv:UnspecifiedMatching -DOID:13963 nuclear senile cataract oboInOwl:hasDbXref ICD9CM:366.16 semapv:UnspecifiedMatching +DOID:13958 uterine corpus bizarre leiomyoma oboInOwl:hasDbXref NCI:C40167 semapv:UnspecifiedMatching DOID:13963 nuclear senile cataract oboInOwl:hasDbXref UMLS_CUI:C0271166 semapv:UnspecifiedMatching +DOID:13963 nuclear senile cataract oboInOwl:hasDbXref ICD9CM:366.16 semapv:UnspecifiedMatching DOID:13964 Morgagni cataract oboInOwl:hasDbXref ICD9CM:366.18 semapv:UnspecifiedMatching DOID:13964 Morgagni cataract oboInOwl:hasDbXref UMLS_CUI:C0152258 semapv:UnspecifiedMatching DOID:1397 chronic orbital inflammation oboInOwl:hasDbXref ICD10CM:H05.1 semapv:UnspecifiedMatching @@ -17942,64 +17969,64 @@ DOID:1397 chronic orbital inflammation oboInOwl:hasDbXref UMLS_CUI:C0155261 sema DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref ICD10CM:C50.51 semapv:UnspecifiedMatching DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref ICD9CM:174.5 semapv:UnspecifiedMatching DOID:13972 female breast lower-outer quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153553 semapv:UnspecifiedMatching -DOID:13976 peptic esophagitis oboInOwl:hasDbXref UMLS_CUI:C0014869 semapv:UnspecifiedMatching -DOID:13976 peptic esophagitis oboInOwl:hasDbXref MESH:D004942 semapv:UnspecifiedMatching DOID:13976 peptic esophagitis oboInOwl:hasDbXref ICD9CM:530.11 semapv:UnspecifiedMatching +DOID:13976 peptic esophagitis oboInOwl:hasDbXref MESH:D004942 semapv:UnspecifiedMatching +DOID:13976 peptic esophagitis oboInOwl:hasDbXref UMLS_CUI:C0014869 semapv:UnspecifiedMatching +DOID:1398 parasitic infectious disease oboInOwl:hasDbXref UMLS_CUI:C0014238 semapv:UnspecifiedMatching +DOID:1398 parasitic infectious disease oboInOwl:hasDbXref NCI:C34587 semapv:UnspecifiedMatching DOID:1398 parasitic infectious disease oboInOwl:hasDbXref ICD10CM:H44.12 semapv:UnspecifiedMatching DOID:1398 parasitic infectious disease oboInOwl:hasDbXref ICD9CM:360.13 semapv:UnspecifiedMatching -DOID:1398 parasitic infectious disease oboInOwl:hasDbXref NCI:C34587 semapv:UnspecifiedMatching -DOID:1398 parasitic infectious disease oboInOwl:hasDbXref UMLS_CUI:C0014238 semapv:UnspecifiedMatching DOID:1399 primary lacrimal atrophy oboInOwl:hasDbXref ICD9CM:375.13 semapv:UnspecifiedMatching DOID:1399 primary lacrimal atrophy oboInOwl:hasDbXref UMLS_CUI:C0155229 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref UMLS_CUI:C0008928 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:216330 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:119600 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ORDO:1452 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching -DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ICD10CM:Q74.0 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref GARD:6118 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ICD10CM:Q74.0 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref MESH:D002973 semapv:UnspecifiedMatching DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref NCI:C75020 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:119600 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref OMIM:216330 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref ORDO:1452 semapv:UnspecifiedMatching +DOID:13994 cleidocranial dysplasia oboInOwl:hasDbXref UMLS_CUI:C0008928 semapv:UnspecifiedMatching DOID:13996 small intestine lymphoma oboInOwl:hasDbXref NCI:C4007 semapv:UnspecifiedMatching DOID:13996 small intestine lymphoma oboInOwl:hasDbXref UMLS_CUI:C0278805 semapv:UnspecifiedMatching -DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref ICD10CM:H10.53 semapv:UnspecifiedMatching DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref ICD9CM:372.22 semapv:UnspecifiedMatching +DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref ICD10CM:H10.53 semapv:UnspecifiedMatching DOID:13999 contact blepharoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155150 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref UMLS_CUI:C0022904 semapv:UnspecifiedMatching -DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref ICD10CM:H04 semapv:UnspecifiedMatching -DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref ICD9CM:375 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref MESH:D007766 semapv:UnspecifiedMatching DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref NCI:C26809 semapv:UnspecifiedMatching +DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref ICD9CM:375 semapv:UnspecifiedMatching +DOID:1400 lacrimal apparatus disease oboInOwl:hasDbXref ICD10CM:H04 semapv:UnspecifiedMatching +DOID:14000 rubeosis iridis oboInOwl:hasDbXref ICD10CM:H21.1 semapv:UnspecifiedMatching DOID:14000 rubeosis iridis oboInOwl:hasDbXref ICD9CM:364.42 semapv:UnspecifiedMatching DOID:14000 rubeosis iridis oboInOwl:hasDbXref UMLS_CUI:C0154916 semapv:UnspecifiedMatching -DOID:14000 rubeosis iridis oboInOwl:hasDbXref ICD10CM:H21.1 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:613780 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0162872 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref ORDO:91387 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:615436 semapv:UnspecifiedMatching +DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:613780 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:611788 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:607087 semapv:UnspecifiedMatching +DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0162872 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:132900 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref EFO:0004282 semapv:UnspecifiedMatching -DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref NCI:C27001 semapv:UnspecifiedMatching DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref MESH:D017545 semapv:UnspecifiedMatching +DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref EFO:0004282 semapv:UnspecifiedMatching +DOID:14004 thoracic aortic aneurysm oboInOwl:hasDbXref OMIM:607086 semapv:UnspecifiedMatching DOID:14006 splenic artery aneurysm oboInOwl:hasDbXref ICD9CM:442.83 semapv:UnspecifiedMatching DOID:14006 splenic artery aneurysm oboInOwl:hasDbXref UMLS_CUI:C0155747 semapv:UnspecifiedMatching +DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref UMLS_CUI:C0023891 semapv:UnspecifiedMatching +DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref NCI:C34782 semapv:UnspecifiedMatching +DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref MESH:D008104 semapv:UnspecifiedMatching DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref ICD10CM:K70.3 semapv:UnspecifiedMatching DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref ICD9CM:571.2 semapv:UnspecifiedMatching -DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref MESH:D008104 semapv:UnspecifiedMatching -DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref NCI:C34782 semapv:UnspecifiedMatching -DOID:14018 alcoholic liver cirrhosis oboInOwl:hasDbXref UMLS_CUI:C0023891 semapv:UnspecifiedMatching DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref ICD10CM:A23.3 semapv:UnspecifiedMatching DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref ICD9CM:023.3 semapv:UnspecifiedMatching DOID:14019 Brucella canis brucellosis oboInOwl:hasDbXref UMLS_CUI:C0494040 semapv:UnspecifiedMatching DOID:14021 Tietze's syndrome oboInOwl:hasDbXref UMLS_CUI:C0040213 semapv:UnspecifiedMatching -DOID:14021 Tietze's syndrome oboInOwl:hasDbXref MESH:D013991 semapv:UnspecifiedMatching -DOID:14021 Tietze's syndrome oboInOwl:hasDbXref ICD9CM:733.6 semapv:UnspecifiedMatching DOID:14021 Tietze's syndrome oboInOwl:hasDbXref ICD10CM:M94.0 semapv:UnspecifiedMatching -DOID:14022 algoneurodystrophy oboInOwl:hasDbXref ICD10CM:M89.0 semapv:UnspecifiedMatching +DOID:14021 Tietze's syndrome oboInOwl:hasDbXref ICD9CM:733.6 semapv:UnspecifiedMatching +DOID:14021 Tietze's syndrome oboInOwl:hasDbXref MESH:D013991 semapv:UnspecifiedMatching DOID:14022 algoneurodystrophy oboInOwl:hasDbXref ICD9CM:733.7 semapv:UnspecifiedMatching DOID:14022 algoneurodystrophy oboInOwl:hasDbXref UMLS_CUI:C0205930 semapv:UnspecifiedMatching +DOID:14022 algoneurodystrophy oboInOwl:hasDbXref ICD10CM:M89.0 semapv:UnspecifiedMatching DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref ICD10CM:D52 semapv:UnspecifiedMatching DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref ICD9CM:281.2 semapv:UnspecifiedMatching DOID:14026 folic acid deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0151482 semapv:UnspecifiedMatching @@ -18007,129 +18034,129 @@ DOID:14032 malignant parietal pleura tumor oboInOwl:hasDbXref UMLS_CUI:C0153495 DOID:14033 malignant visceral pleura tumor oboInOwl:hasDbXref UMLS_CUI:C0153496 semapv:UnspecifiedMatching DOID:14037 aorta atresia oboInOwl:hasDbXref ICD9CM:747.22 semapv:UnspecifiedMatching DOID:14037 aorta atresia oboInOwl:hasDbXref UMLS_CUI:C0345010 semapv:UnspecifiedMatching -DOID:14039 POEMS syndrome oboInOwl:hasDbXref NCI:C80303 semapv:UnspecifiedMatching DOID:14039 POEMS syndrome oboInOwl:hasDbXref UMLS_CUI:C0085404 semapv:UnspecifiedMatching +DOID:14039 POEMS syndrome oboInOwl:hasDbXref NCI:C80303 semapv:UnspecifiedMatching DOID:14039 POEMS syndrome oboInOwl:hasDbXref GARD:7411 semapv:UnspecifiedMatching DOID:14039 POEMS syndrome oboInOwl:hasDbXref MESH:D016878 semapv:UnspecifiedMatching DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref ICD10CM:H40.24 semapv:UnspecifiedMatching DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.24 semapv:UnspecifiedMatching DOID:1404 residual stage angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154948 semapv:UnspecifiedMatching -DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref ICD10CM:E31.0 semapv:UnspecifiedMatching -DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref MESH:D016884 semapv:UnspecifiedMatching DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref NCI:C84576 semapv:UnspecifiedMatching DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref UMLS_CUI:C0085409 semapv:UnspecifiedMatching +DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref MESH:D016884 semapv:UnspecifiedMatching +DOID:14040 autoimmune polyendocrine syndrome oboInOwl:hasDbXref ICD10CM:E31.0 semapv:UnspecifiedMatching DOID:14042 bipolar I disorder oboInOwl:hasDbXref ICD9CM:296.50 semapv:UnspecifiedMatching DOID:14042 bipolar I disorder oboInOwl:hasDbXref UMLS_CUI:C0236773 semapv:UnspecifiedMatching DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref ICD9CM:775.2 semapv:UnspecifiedMatching DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref MESH:D020941 semapv:UnspecifiedMatching DOID:14043 neonatal myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C0158982 semapv:UnspecifiedMatching -DOID:14049 phaeohyphomycosis oboInOwl:hasDbXref MESH:D060446 semapv:UnspecifiedMatching DOID:14049 phaeohyphomycosis oboInOwl:hasDbXref GARD:12803 semapv:UnspecifiedMatching +DOID:14049 phaeohyphomycosis oboInOwl:hasDbXref MESH:D060446 semapv:UnspecifiedMatching +DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017606 semapv:UnspecifiedMatching DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref ICD10CM:H40.2 semapv:UnspecifiedMatching DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref ICD9CM:365.2 semapv:UnspecifiedMatching -DOID:1405 primary angle-closure glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017606 semapv:UnspecifiedMatching -DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref ICD10CM:C68.1 semapv:UnspecifiedMatching DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref ICD9CM:189.4 semapv:UnspecifiedMatching DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153621 semapv:UnspecifiedMatching -DOID:1406 iritis oboInOwl:hasDbXref MESH:D007500 semapv:UnspecifiedMatching -DOID:1406 iritis oboInOwl:hasDbXref NCI:C50621 semapv:UnspecifiedMatching +DOID:14059 paraurethral gland cancer oboInOwl:hasDbXref ICD10CM:C68.1 semapv:UnspecifiedMatching DOID:1406 iritis oboInOwl:hasDbXref UMLS_CUI:C0022081 semapv:UnspecifiedMatching +DOID:1406 iritis oboInOwl:hasDbXref NCI:C50621 semapv:UnspecifiedMatching +DOID:1406 iritis oboInOwl:hasDbXref MESH:D007500 semapv:UnspecifiedMatching DOID:14064 acute poststreptococcal glomerulonephritis oboInOwl:hasDbXref NCI:C35443 semapv:UnspecifiedMatching DOID:14064 acute poststreptococcal glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0403414 semapv:UnspecifiedMatching DOID:14066 acute diffuse nephritis oboInOwl:hasDbXref NCI:C35587 semapv:UnspecifiedMatching DOID:14066 acute diffuse nephritis oboInOwl:hasDbXref UMLS_CUI:C0341689 semapv:UnspecifiedMatching -DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref NCI:C34798 semapv:UnspecifiedMatching -DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref MESH:D016778 semapv:UnspecifiedMatching -DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref UMLS_CUI:C0024535 semapv:UnspecifiedMatching DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref ICD10CM:B50 semapv:UnspecifiedMatching DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref ICD9CM:084.0 semapv:UnspecifiedMatching +DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref MESH:D016778 semapv:UnspecifiedMatching +DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref NCI:C34798 semapv:UnspecifiedMatching +DOID:14067 Plasmodium falciparum malaria oboInOwl:hasDbXref UMLS_CUI:C0024535 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref ICD9CM:084.8 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref MESH:D001742 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref NCI:C34426 semapv:UnspecifiedMatching DOID:14068 blackwater fever oboInOwl:hasDbXref UMLS_CUI:C0005681 semapv:UnspecifiedMatching -DOID:14069 cerebral malaria oboInOwl:hasDbXref ICD10CM:B50.0 semapv:UnspecifiedMatching -DOID:14069 cerebral malaria oboInOwl:hasDbXref MESH:D016779 semapv:UnspecifiedMatching -DOID:14069 cerebral malaria oboInOwl:hasDbXref NCI:C128373 semapv:UnspecifiedMatching DOID:14069 cerebral malaria oboInOwl:hasDbXref UMLS_CUI:C0024534 semapv:UnspecifiedMatching +DOID:14069 cerebral malaria oboInOwl:hasDbXref NCI:C128373 semapv:UnspecifiedMatching +DOID:14069 cerebral malaria oboInOwl:hasDbXref MESH:D016779 semapv:UnspecifiedMatching +DOID:14069 cerebral malaria oboInOwl:hasDbXref ICD10CM:B50.0 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref GARD:10941 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref MESH:D014606 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref NCI:C35109 semapv:UnspecifiedMatching DOID:1407 anterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0042165 semapv:UnspecifiedMatching -DOID:14070 vestibular nystagmus oboInOwl:hasDbXref UMLS_CUI:C0155379 semapv:UnspecifiedMatching DOID:14070 vestibular nystagmus oboInOwl:hasDbXref ICD9CM:379.54 semapv:UnspecifiedMatching +DOID:14070 vestibular nystagmus oboInOwl:hasDbXref UMLS_CUI:C0155379 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref ICD10CM:G51.1 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref ICD9CM:351.1 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref MESH:D005155 semapv:UnspecifiedMatching DOID:14075 geniculate ganglionitis oboInOwl:hasDbXref UMLS_CUI:C0017407 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref UMLS_CUI:C1260386 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching -DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref NCI:C123248 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref MESH:C563177 semapv:UnspecifiedMatching +DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref NCI:C123248 semapv:UnspecifiedMatching +DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD9CM:255.11 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD10CM:E26.02 semapv:UnspecifiedMatching DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref GARD:2790 semapv:UnspecifiedMatching -DOID:14080 glucocorticoid-remediable aldosteronism oboInOwl:hasDbXref ICD9CM:255.11 semapv:UnspecifiedMatching DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref ICD9CM:386.34 semapv:UnspecifiedMatching DOID:14081 toxic labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155507 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref UMLS_CUI:C0039516 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref UMLS_CUI:C0014488 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref NCI:C35067 semapv:UnspecifiedMatching +DOID:14087 epicondylitis oboInOwl:hasDbXref NCI:C34589 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref MESH:D013716 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref ICD9CM:726.32 semapv:UnspecifiedMatching DOID:14087 epicondylitis oboInOwl:hasDbXref ICD10CM:M77.1 semapv:UnspecifiedMatching -DOID:14087 epicondylitis oboInOwl:hasDbXref NCI:C34589 semapv:UnspecifiedMatching DOID:14089 root caries oboInOwl:hasDbXref ICD9CM:521.08 semapv:UnspecifiedMatching DOID:14089 root caries oboInOwl:hasDbXref MESH:D017213 semapv:UnspecifiedMatching DOID:14089 root caries oboInOwl:hasDbXref UMLS_CUI:C0162644 semapv:UnspecifiedMatching -DOID:14092 renal artery atheroma oboInOwl:hasDbXref ICD10CM:I70.1 semapv:UnspecifiedMatching -DOID:14092 renal artery atheroma oboInOwl:hasDbXref ICD9CM:440.1 semapv:UnspecifiedMatching DOID:14092 renal artery atheroma oboInOwl:hasDbXref UMLS_CUI:C0155734 semapv:UnspecifiedMatching +DOID:14092 renal artery atheroma oboInOwl:hasDbXref ICD9CM:440.1 semapv:UnspecifiedMatching +DOID:14092 renal artery atheroma oboInOwl:hasDbXref ICD10CM:I70.1 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref ICD10CM:A77.1 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref ICD9CM:082.1 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref MESH:D001907 semapv:UnspecifiedMatching DOID:14095 boutonneuse fever oboInOwl:hasDbXref UMLS_CUI:C0006060 semapv:UnspecifiedMatching -DOID:14096 infertility due to extratesticular cause oboInOwl:hasDbXref UMLS_CUI:C0021360 semapv:UnspecifiedMatching DOID:14096 infertility due to extratesticular cause oboInOwl:hasDbXref ICD9CM:606.8 semapv:UnspecifiedMatching +DOID:14096 infertility due to extratesticular cause oboInOwl:hasDbXref UMLS_CUI:C0021360 semapv:UnspecifiedMatching DOID:14099 acquired gastric outlet stenosis oboInOwl:hasDbXref ICD9CM:537.0 semapv:UnspecifiedMatching DOID:14099 acquired gastric outlet stenosis oboInOwl:hasDbXref UMLS_CUI:C0700588 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref ICD10CM:M65.4 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref ICD9CM:727.04 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref MESH:D053684 semapv:UnspecifiedMatching DOID:14107 De Quervain disease oboInOwl:hasDbXref UMLS_CUI:C0149870 semapv:UnspecifiedMatching +DOID:14110 anus cancer oboInOwl:hasDbXref UMLS_CUI:C0153445 semapv:UnspecifiedMatching +DOID:14110 anus cancer oboInOwl:hasDbXref NCI:C7379 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref UMLS_CUI:C0153446 semapv:UnspecifiedMatching +DOID:14110 anus cancer oboInOwl:hasDbXref ICD9CM:154.3 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref GARD:9300 semapv:UnspecifiedMatching -DOID:14110 anus cancer oboInOwl:hasDbXref ICD10CM:C21.0 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref ICD10CM:C21.1 semapv:UnspecifiedMatching +DOID:14110 anus cancer oboInOwl:hasDbXref ICD10CM:C21.0 semapv:UnspecifiedMatching DOID:14110 anus cancer oboInOwl:hasDbXref ICD9CM:154.2 semapv:UnspecifiedMatching -DOID:14110 anus cancer oboInOwl:hasDbXref ICD9CM:154.3 semapv:UnspecifiedMatching -DOID:14110 anus cancer oboInOwl:hasDbXref NCI:C7379 semapv:UnspecifiedMatching -DOID:14110 anus cancer oboInOwl:hasDbXref UMLS_CUI:C0153445 semapv:UnspecifiedMatching +DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref ICD10CM:K14.2 semapv:UnspecifiedMatching DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref ICD9CM:529.2 semapv:UnspecifiedMatching DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref UMLS_CUI:C0155963 semapv:UnspecifiedMatching -DOID:14111 median rhomboid glossitis oboInOwl:hasDbXref ICD10CM:K14.2 semapv:UnspecifiedMatching -DOID:14115 toxic shock syndrome oboInOwl:hasDbXref UMLS_CUI:C0600327 semapv:UnspecifiedMatching -DOID:14115 toxic shock syndrome oboInOwl:hasDbXref NCI:C35498 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref ICD10CM:A48.3 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref ICD9CM:040.82 semapv:UnspecifiedMatching DOID:14115 toxic shock syndrome oboInOwl:hasDbXref MESH:D012772 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref GARD:6957 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref MESH:D008069 semapv:UnspecifiedMatching +DOID:14115 toxic shock syndrome oboInOwl:hasDbXref NCI:C35498 semapv:UnspecifiedMatching +DOID:14115 toxic shock syndrome oboInOwl:hasDbXref UMLS_CUI:C0600327 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0028253 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0023804 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref NCI:C4392 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref MESH:D008069 semapv:UnspecifiedMatching +DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref GARD:6957 semapv:UnspecifiedMatching DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151800 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0023804 semapv:UnspecifiedMatching -DOID:14116 multiple symmetric lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0028253 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref UMLS_CUI:C0023817 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ORDO:309015 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref NCI:C84771 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD9CM:272.3 semapv:UnspecifiedMatching -DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10CM:E78.3 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref GARD:12241 semapv:UnspecifiedMatching +DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD10CM:E78.3 semapv:UnspecifiedMatching +DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ICD9CM:272.3 semapv:UnspecifiedMatching DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref MESH:D008072 semapv:UnspecifiedMatching -DOID:1412 bacteriuria oboInOwl:hasDbXref ICD10CM:R82.71 semapv:UnspecifiedMatching -DOID:1412 bacteriuria oboInOwl:hasDbXref MEDDRA:10004056 semapv:UnspecifiedMatching +DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref NCI:C84771 semapv:UnspecifiedMatching +DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref OMIM:238600 semapv:UnspecifiedMatching +DOID:14118 familial lipoprotein lipase deficiency oboInOwl:hasDbXref ORDO:309015 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref MESH:D001437 semapv:UnspecifiedMatching DOID:1412 bacteriuria oboInOwl:hasDbXref UMLS_CUI:C0004659 semapv:UnspecifiedMatching +DOID:1412 bacteriuria oboInOwl:hasDbXref ICD10CM:R82.71 semapv:UnspecifiedMatching +DOID:1412 bacteriuria oboInOwl:hasDbXref MEDDRA:10004056 semapv:UnspecifiedMatching DOID:14121 blue toe syndrome oboInOwl:hasDbXref MESH:D018438 semapv:UnspecifiedMatching DOID:14121 blue toe syndrome oboInOwl:hasDbXref UMLS_CUI:C0242645 semapv:UnspecifiedMatching DOID:14125 abducens nerve neoplasm oboInOwl:hasDbXref NCI:C5826 semapv:UnspecifiedMatching @@ -18137,44 +18164,44 @@ DOID:14125 abducens nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263898 semapv:U DOID:14130 lateral cystocele oboInOwl:hasDbXref ICD10CM:N81.12 semapv:UnspecifiedMatching DOID:14130 lateral cystocele oboInOwl:hasDbXref ICD9CM:618.02 semapv:UnspecifiedMatching DOID:14130 lateral cystocele oboInOwl:hasDbXref UMLS_CUI:C2711750 semapv:UnspecifiedMatching -DOID:14131 midline cystocele oboInOwl:hasDbXref UMLS_CUI:C1456248 semapv:UnspecifiedMatching DOID:14131 midline cystocele oboInOwl:hasDbXref ICD10CM:N81.11 semapv:UnspecifiedMatching DOID:14131 midline cystocele oboInOwl:hasDbXref ICD9CM:618.01 semapv:UnspecifiedMatching +DOID:14131 midline cystocele oboInOwl:hasDbXref UMLS_CUI:C1456248 semapv:UnspecifiedMatching DOID:14133 Masters-Allen syndrome oboInOwl:hasDbXref ICD9CM:620.6 semapv:UnspecifiedMatching DOID:14133 Masters-Allen syndrome oboInOwl:hasDbXref UMLS_CUI:C0152079 semapv:UnspecifiedMatching -DOID:14139 anus lymphoma oboInOwl:hasDbXref NCI:C5601 semapv:UnspecifiedMatching DOID:14139 anus lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332268 semapv:UnspecifiedMatching +DOID:14139 anus lymphoma oboInOwl:hasDbXref NCI:C5601 semapv:UnspecifiedMatching DOID:1414 ovarian dysfunction oboInOwl:hasDbXref ICD9CM:256.3 semapv:UnspecifiedMatching DOID:1414 ovarian dysfunction oboInOwl:hasDbXref UMLS_CUI:C0029697 semapv:UnspecifiedMatching DOID:14140 pulp erosion oboInOwl:hasDbXref ICD9CM:521.33 semapv:UnspecifiedMatching DOID:14140 pulp erosion oboInOwl:hasDbXref UMLS_CUI:C1456163 semapv:UnspecifiedMatching DOID:14145 malignant anus melanoma oboInOwl:hasDbXref NCI:C4639 semapv:UnspecifiedMatching DOID:14145 malignant anus melanoma oboInOwl:hasDbXref UMLS_CUI:C0349538 semapv:UnspecifiedMatching -DOID:14146 ureterolithiasis oboInOwl:hasDbXref UMLS_CUI:C0041952 semapv:UnspecifiedMatching +DOID:14146 ureterolithiasis oboInOwl:hasDbXref ICD9CM:592.1 semapv:UnspecifiedMatching +DOID:14146 ureterolithiasis oboInOwl:hasDbXref ICD10CM:N20.1 semapv:UnspecifiedMatching DOID:14146 ureterolithiasis oboInOwl:hasDbXref MESH:D053039 semapv:UnspecifiedMatching DOID:14146 ureterolithiasis oboInOwl:hasDbXref NCI:C114696 semapv:UnspecifiedMatching -DOID:14146 ureterolithiasis oboInOwl:hasDbXref ICD10CM:N20.1 semapv:UnspecifiedMatching -DOID:14146 ureterolithiasis oboInOwl:hasDbXref ICD9CM:592.1 semapv:UnspecifiedMatching -DOID:1415 gyrate atrophy oboInOwl:hasDbXref GARD:6556 semapv:UnspecifiedMatching -DOID:1415 gyrate atrophy oboInOwl:hasDbXref MESH:D015799 semapv:UnspecifiedMatching +DOID:14146 ureterolithiasis oboInOwl:hasDbXref UMLS_CUI:C0041952 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref NCI:C84744 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching +DOID:1415 gyrate atrophy oboInOwl:hasDbXref GARD:6556 semapv:UnspecifiedMatching +DOID:1415 gyrate atrophy oboInOwl:hasDbXref MESH:D015799 semapv:UnspecifiedMatching DOID:1415 gyrate atrophy oboInOwl:hasDbXref UMLS_CUI:C0018425 semapv:UnspecifiedMatching -DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref NCI:C5157 semapv:UnspecifiedMatching DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336044 semapv:UnspecifiedMatching +DOID:14150 spinal cord lymphoma oboInOwl:hasDbXref NCI:C5157 semapv:UnspecifiedMatching DOID:14151 spinal cord melanoma oboInOwl:hasDbXref NCI:C5158 semapv:UnspecifiedMatching DOID:14151 spinal cord melanoma oboInOwl:hasDbXref UMLS_CUI:C1336045 semapv:UnspecifiedMatching DOID:14152 spinal cord sarcoma oboInOwl:hasDbXref NCI:C5152 semapv:UnspecifiedMatching DOID:14152 spinal cord sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336049 semapv:UnspecifiedMatching DOID:14155 acute retrobulbar neuritis oboInOwl:hasDbXref ICD9CM:377.32 semapv:UnspecifiedMatching DOID:14155 acute retrobulbar neuritis oboInOwl:hasDbXref UMLS_CUI:C0155301 semapv:UnspecifiedMatching -DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0549423 semapv:UnspecifiedMatching -DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref NCI:C116347 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.1 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref ICD9CM:331.4 semapv:UnspecifiedMatching DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching -DOID:14165 bilateral hyperactive labyrinth oboInOwl:hasDbXref ICD9CM:386.52 semapv:UnspecifiedMatching +DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref NCI:C116347 semapv:UnspecifiedMatching +DOID:14159 obstructive hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0549423 semapv:UnspecifiedMatching DOID:14165 bilateral hyperactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155516 semapv:UnspecifiedMatching +DOID:14165 bilateral hyperactive labyrinth oboInOwl:hasDbXref ICD9CM:386.52 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref ICD10CM:H31.9 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref ICD9CM:363.9 semapv:UnspecifiedMatching DOID:1417 choroid disease oboInOwl:hasDbXref MESH:D015862 semapv:UnspecifiedMatching @@ -18183,136 +18210,136 @@ DOID:1417 choroid disease oboInOwl:hasDbXref UMLS_CUI:C0008521 semapv:Unspecifie DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref ICD10CM:I09.81 semapv:UnspecifiedMatching DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref ICD9CM:398.91 semapv:UnspecifiedMatching DOID:14172 rheumatic congestive heart failure oboInOwl:hasDbXref UMLS_CUI:C0155582 semapv:UnspecifiedMatching -DOID:14174 central neurocytoma oboInOwl:hasDbXref NCI:C3791 semapv:UnspecifiedMatching -DOID:14174 central neurocytoma oboInOwl:hasDbXref UMLS_CUI:C0206719 semapv:UnspecifiedMatching DOID:14174 central neurocytoma oboInOwl:hasDbXref ICDO:9506/1 semapv:UnspecifiedMatching DOID:14174 central neurocytoma oboInOwl:hasDbXref MESH:D018306 semapv:UnspecifiedMatching +DOID:14174 central neurocytoma oboInOwl:hasDbXref NCI:C3791 semapv:UnspecifiedMatching +DOID:14174 central neurocytoma oboInOwl:hasDbXref UMLS_CUI:C0206719 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref UMLS_CUI:C0019562 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref OMIM:193300 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref NCI:C3105 semapv:UnspecifiedMatching -DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref GARD:7855 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref ICD10CM:Q85.83 semapv:UnspecifiedMatching +DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref GARD:7855 semapv:UnspecifiedMatching DOID:14175 von Hippel-Lindau disease oboInOwl:hasDbXref MESH:D006623 semapv:UnspecifiedMatching +DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref GARD:10371 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref ICD10CM:D80.3 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref MESH:D017099 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref NCI:C27142 semapv:UnspecifiedMatching DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0162539 semapv:UnspecifiedMatching -DOID:14176 selective IgG deficiency disease oboInOwl:hasDbXref GARD:10371 semapv:UnspecifiedMatching DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref ICD9CM:279.04 semapv:UnspecifiedMatching DOID:14177 congenital hypogammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C1457897 semapv:UnspecifiedMatching -DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0221026 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref ORDO:47 semapv:UnspecifiedMatching -DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref NCI:C3822 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref MESH:C537409 semapv:UnspecifiedMatching +DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref NCI:C3822 semapv:UnspecifiedMatching DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref OMIM:300755 semapv:UnspecifiedMatching +DOID:14179 X-linked agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0221026 semapv:UnspecifiedMatching +DOID:14181 calcific tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158303 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref ICD10CM:M75.3 semapv:UnspecifiedMatching DOID:14181 calcific tendinitis oboInOwl:hasDbXref ICD9CM:726.11 semapv:UnspecifiedMatching -DOID:14181 calcific tendinitis oboInOwl:hasDbXref UMLS_CUI:C0158303 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref ICD10CM:G62.1 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref ICD9CM:357.5 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref MESH:D020269 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref NCI:C26926 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0085677 semapv:UnspecifiedMatching DOID:14183 alcoholic neuropathy skos:exactMatch MESH:D020269 semapv:UnspecifiedMatching +DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref UMLS_CUI:C0154762 semapv:UnspecifiedMatching DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref ICD10CM:G62.0 semapv:UnspecifiedMatching DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref ICD9CM:357.6 semapv:UnspecifiedMatching -DOID:14184 polyneuropathy due to drug oboInOwl:hasDbXref UMLS_CUI:C0154762 semapv:UnspecifiedMatching -DOID:14188 frozen shoulder oboInOwl:hasDbXref UMLS_CUI:C0311223 semapv:UnspecifiedMatching +DOID:14188 frozen shoulder oboInOwl:hasDbXref ICD9CM:726.0 semapv:UnspecifiedMatching DOID:14188 frozen shoulder oboInOwl:hasDbXref MESH:D002062 semapv:UnspecifiedMatching DOID:14188 frozen shoulder oboInOwl:hasDbXref ICD10CM:M75.0 semapv:UnspecifiedMatching -DOID:14188 frozen shoulder oboInOwl:hasDbXref ICD9CM:726.0 semapv:UnspecifiedMatching -DOID:14192 bicipital tenosynovitis oboInOwl:hasDbXref ICD9CM:726.12 semapv:UnspecifiedMatching +DOID:14188 frozen shoulder oboInOwl:hasDbXref UMLS_CUI:C0311223 semapv:UnspecifiedMatching DOID:14192 bicipital tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0158304 semapv:UnspecifiedMatching +DOID:14192 bicipital tenosynovitis oboInOwl:hasDbXref ICD9CM:726.12 semapv:UnspecifiedMatching +DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref UMLS_CUI:C0155373 semapv:UnspecifiedMatching DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref ICD10CM:H27.13 semapv:UnspecifiedMatching DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref ICD9CM:379.34 semapv:UnspecifiedMatching -DOID:14199 posterior dislocation of lens oboInOwl:hasDbXref UMLS_CUI:C0155373 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref ICD10CM:M33.0 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref MESH:D003882 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref NCI:C27576 semapv:UnspecifiedMatching DOID:14203 childhood type dermatomyositis oboInOwl:hasDbXref UMLS_CUI:C0263666 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS_CUI:C0220743 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS_CUI:C0020630 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref ORDO:436 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref NCI:C26798 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref MESH:C562440 semapv:UnspecifiedMatching -DOID:14213 hypophosphatasia oboInOwl:hasDbXref ICD10CM:E83.39 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref GARD:6734 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref ICD10CM:E83.39 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref MESH:C562440 semapv:UnspecifiedMatching DOID:14213 hypophosphatasia oboInOwl:hasDbXref MESH:D007014 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref GARD:19 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref NCI:C84672 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 semapv:UnspecifiedMatching -DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C1959620 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref NCI:C26798 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref ORDO:436 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS_CUI:C0020630 semapv:UnspecifiedMatching +DOID:14213 hypophosphatasia oboInOwl:hasDbXref UMLS_CUI:C0220743 semapv:UnspecifiedMatching DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C3495551 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref UMLS_CUI:C0001126 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref NCI:C28129 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref MESH:D000141 semapv:UnspecifiedMatching -DOID:14219 renal tubular acidosis oboInOwl:hasDbXref ICD10CM:N25.89 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C1959620 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref OMIM:274270 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref NCI:C84672 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching +DOID:14218 dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref GARD:19 semapv:UnspecifiedMatching DOID:14219 renal tubular acidosis oboInOwl:hasDbXref GARD:7552 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref EFO:0000195 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref GARD:9226 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD10CM:E88.81 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD9CM:277.7 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref MESH:D024821 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref NCI:C84442 semapv:UnspecifiedMatching -DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref OMIM:605552 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref ICD10CM:N25.89 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref MESH:D000141 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref NCI:C28129 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:179830 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:267200 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref OMIM:602722 semapv:UnspecifiedMatching +DOID:14219 renal tubular acidosis oboInOwl:hasDbXref UMLS_CUI:C0001126 semapv:UnspecifiedMatching DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0524620 semapv:UnspecifiedMatching -DOID:14223 ochronosis oboInOwl:hasDbXref NCI:C84938 semapv:UnspecifiedMatching -DOID:14223 ochronosis oboInOwl:hasDbXref MESH:D009794 semapv:UnspecifiedMatching -DOID:14223 ochronosis oboInOwl:hasDbXref UMLS_CUI:C0028817 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref OMIM:605552 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref NCI:C84442 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref MESH:D024821 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD9CM:277.7 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref ICD10CM:E88.81 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref GARD:9226 semapv:UnspecifiedMatching +DOID:14221 abdominal obesity-metabolic syndrome 1 oboInOwl:hasDbXref EFO:0000195 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref GARD:7231 semapv:UnspecifiedMatching DOID:14223 ochronosis oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching -DOID:14224 tracheal calcification oboInOwl:hasDbXref NCI:C35314 semapv:UnspecifiedMatching +DOID:14223 ochronosis oboInOwl:hasDbXref MESH:D009794 semapv:UnspecifiedMatching +DOID:14223 ochronosis oboInOwl:hasDbXref NCI:C84938 semapv:UnspecifiedMatching +DOID:14223 ochronosis oboInOwl:hasDbXref UMLS_CUI:C0028817 semapv:UnspecifiedMatching DOID:14224 tracheal calcification oboInOwl:hasDbXref UMLS_CUI:C0264324 semapv:UnspecifiedMatching +DOID:14224 tracheal calcification oboInOwl:hasDbXref NCI:C35314 semapv:UnspecifiedMatching DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref ICD10CM:J01.1 semapv:UnspecifiedMatching DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref ICD9CM:461.1 semapv:UnspecifiedMatching DOID:14225 acute frontal sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155805 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref EFO:0000279 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref ICD9CM:606.0 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref MESH:D053713 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref NCI:C80076 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref ORDO:217034 semapv:UnspecifiedMatching -DOID:14227 azoospermia oboInOwl:hasDbXref UMLS_CUI:C0004509 semapv:UnspecifiedMatching DOID:14227 azoospermia skos:exactMatch MESH:D053713 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref UMLS_CUI:C0004509 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref ORDO:217034 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref NCI:C80076 semapv:UnspecifiedMatching DOID:14227 azoospermia oboInOwl:hasDbXref ICD10CM:N46.0 semapv:UnspecifiedMatching -DOID:14228 oligospermia oboInOwl:hasDbXref NCI:C34860 semapv:UnspecifiedMatching -DOID:14228 oligospermia oboInOwl:hasDbXref UMLS_CUI:C0028960 semapv:UnspecifiedMatching -DOID:14228 oligospermia oboInOwl:hasDbXref ICD9CM:606.1 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref ICD9CM:606.0 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref EFO:0000279 semapv:UnspecifiedMatching +DOID:14227 azoospermia oboInOwl:hasDbXref MESH:D053713 semapv:UnspecifiedMatching DOID:14228 oligospermia oboInOwl:hasDbXref ICD10CM:N46.1 semapv:UnspecifiedMatching +DOID:14228 oligospermia oboInOwl:hasDbXref ICD9CM:606.1 semapv:UnspecifiedMatching DOID:14228 oligospermia oboInOwl:hasDbXref MESH:D009845 semapv:UnspecifiedMatching +DOID:14228 oligospermia oboInOwl:hasDbXref NCI:C34860 semapv:UnspecifiedMatching +DOID:14228 oligospermia oboInOwl:hasDbXref UMLS_CUI:C0028960 semapv:UnspecifiedMatching +DOID:14230 scleromalacia perforans oboInOwl:hasDbXref UMLS_CUI:C0155354 semapv:UnspecifiedMatching DOID:14230 scleromalacia perforans oboInOwl:hasDbXref ICD10CM:H15.05 semapv:UnspecifiedMatching DOID:14230 scleromalacia perforans oboInOwl:hasDbXref ICD9CM:379.04 semapv:UnspecifiedMatching -DOID:14230 scleromalacia perforans oboInOwl:hasDbXref UMLS_CUI:C0155354 semapv:UnspecifiedMatching +DOID:14233 orbital cyst oboInOwl:hasDbXref UMLS_CUI:C0155285 semapv:UnspecifiedMatching DOID:14233 orbital cyst oboInOwl:hasDbXref ICD10CM:H05.81 semapv:UnspecifiedMatching DOID:14233 orbital cyst oboInOwl:hasDbXref ICD9CM:376.81 semapv:UnspecifiedMatching -DOID:14233 orbital cyst oboInOwl:hasDbXref UMLS_CUI:C0155285 semapv:UnspecifiedMatching DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref ICD9CM:021.1 semapv:UnspecifiedMatching DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref ICD9CM:021.8 semapv:UnspecifiedMatching DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref UMLS_CUI:C0029835 semapv:UnspecifiedMatching DOID:14239 gastrointestinal tularemia oboInOwl:hasDbXref UMLS_CUI:C0152942 semapv:UnspecifiedMatching -DOID:14243 chronic perichondritis of pinna oboInOwl:hasDbXref UMLS_CUI:C0155391 semapv:UnspecifiedMatching DOID:14243 chronic perichondritis of pinna oboInOwl:hasDbXref ICD9CM:380.02 semapv:UnspecifiedMatching +DOID:14243 chronic perichondritis of pinna oboInOwl:hasDbXref UMLS_CUI:C0155391 semapv:UnspecifiedMatching +DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref ICD10CM:H04.21 semapv:UnspecifiedMatching DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref ICD9CM:375.21 semapv:UnspecifiedMatching DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref UMLS_CUI:C0155233 semapv:UnspecifiedMatching -DOID:14244 epiphora due to excess lacrimation oboInOwl:hasDbXref ICD10CM:H04.21 semapv:UnspecifiedMatching +DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154850 semapv:UnspecifiedMatching DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref ICD10CM:H35.35 semapv:UnspecifiedMatching DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref ICD9CM:362.53 semapv:UnspecifiedMatching -DOID:14245 cystoid macular retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0154850 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref ICD10CM:H66.3 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref ICD9CM:382.3 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref NCI:C128386 semapv:UnspecifiedMatching DOID:14247 chronic purulent otitis media oboInOwl:hasDbXref UMLS_CUI:C0271454 semapv:UnspecifiedMatching -DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref UMLS_CUI:C0155441 semapv:UnspecifiedMatching DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref ICD10CM:H66.2 semapv:UnspecifiedMatching DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref ICD9CM:382.2 semapv:UnspecifiedMatching +DOID:14248 chronic atticoantral disease oboInOwl:hasDbXref UMLS_CUI:C0155441 semapv:UnspecifiedMatching DOID:1425 pyoureter oboInOwl:hasDbXref NCI:C35666 semapv:UnspecifiedMatching DOID:1425 pyoureter oboInOwl:hasDbXref UMLS_CUI:C0034223 semapv:UnspecifiedMatching -DOID:14250 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching -DOID:14250 Down syndrome oboInOwl:hasDbXref UMLS_CUI:C0013080 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ORDO:870 semapv:UnspecifiedMatching +DOID:14250 Down syndrome oboInOwl:hasDbXref UMLS_CUI:C0013080 semapv:UnspecifiedMatching +DOID:14250 Down syndrome oboInOwl:hasDbXref OMIM:190685 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref NCI:C2993 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ICD9CM:758.0 semapv:UnspecifiedMatching DOID:14250 Down syndrome oboInOwl:hasDbXref ICD10CM:Q90 semapv:UnspecifiedMatching @@ -18328,44 +18355,44 @@ DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses oboInOwl:ha DOID:14253 retinal dystrophy in systemic or cerebroretinal lipidoses oboInOwl:hasDbXref UMLS_CUI:C0154861 semapv:UnspecifiedMatching DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref UMLS_CUI:C0085253 semapv:UnspecifiedMatching DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref MESH:D016706 semapv:UnspecifiedMatching -DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref GARD:436 semapv:UnspecifiedMatching DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref ICD10CM:M06.1 semapv:UnspecifiedMatching +DOID:14256 adult-onset Still's disease oboInOwl:hasDbXref GARD:436 semapv:UnspecifiedMatching DOID:1426 ureteral disease oboInOwl:hasDbXref MESH:D014515 semapv:UnspecifiedMatching DOID:1426 ureteral disease oboInOwl:hasDbXref UMLS_CUI:C0041954 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref GARD:6464 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD10CM:Q99.2 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD9CM:759.83 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:UnspecifiedMatching -DOID:14261 fragile X syndrome oboInOwl:hasDbXref NCI:C84717 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref OMIM:300624 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref ORDO:908 semapv:UnspecifiedMatching +DOID:14261 fragile X syndrome oboInOwl:hasDbXref NCI:C84717 semapv:UnspecifiedMatching DOID:14261 fragile X syndrome oboInOwl:hasDbXref UMLS_CUI:C0016667 semapv:UnspecifiedMatching +DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD9CM:759.83 semapv:UnspecifiedMatching +DOID:14261 fragile X syndrome oboInOwl:hasDbXref ICD10CM:Q99.2 semapv:UnspecifiedMatching +DOID:14261 fragile X syndrome oboInOwl:hasDbXref GARD:6464 semapv:UnspecifiedMatching +DOID:14261 fragile X syndrome oboInOwl:hasDbXref MESH:D005600 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref MESH:D002180 semapv:UnspecifiedMatching -DOID:14262 oral candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006849 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref NCI:C28137 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref ICD10CM:B37.9 semapv:UnspecifiedMatching DOID:14262 oral candidiasis oboInOwl:hasDbXref ICD9CM:112.0 semapv:UnspecifiedMatching +DOID:14262 oral candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006849 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref UMLS_CUI:C0270851 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref NCI:C84593 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching -DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:269720 semapv:UnspecifiedMatching +DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121201 semapv:UnspecifiedMatching DOID:14264 benign neonatal seizures oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching -DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0034088 semapv:UnspecifiedMatching -DOID:14265 pulmonary valve insufficiency skos:exactMatch MESH:D011665 semapv:UnspecifiedMatching +DOID:14264 benign neonatal seizures oboInOwl:hasDbXref NCI:C84593 semapv:UnspecifiedMatching +DOID:14264 benign neonatal seizures oboInOwl:hasDbXref OMIM:121200 semapv:UnspecifiedMatching +DOID:14264 benign neonatal seizures oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref MESH:D011665 semapv:UnspecifiedMatching DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref NCI:C62436 semapv:UnspecifiedMatching -DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching -DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008313 semapv:UnspecifiedMatching +DOID:14265 pulmonary valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0034088 semapv:UnspecifiedMatching +DOID:14265 pulmonary valve insufficiency skos:exactMatch MESH:D011665 semapv:UnspecifiedMatching DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref EFO:0004268 semapv:UnspecifiedMatching DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching +DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching +DOID:14268 sclerosing cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008313 semapv:UnspecifiedMatching +DOID:14269 suppurative cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching DOID:14269 suppurative cholangitis oboInOwl:hasDbXref NCI:C35336 semapv:UnspecifiedMatching DOID:14269 suppurative cholangitis oboInOwl:hasDbXref UMLS_CUI:C0267924 semapv:UnspecifiedMatching -DOID:14269 suppurative cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching -DOID:14270 ascending cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching -DOID:14270 ascending cholangitis oboInOwl:hasDbXref NCI:C35372 semapv:UnspecifiedMatching DOID:14270 ascending cholangitis oboInOwl:hasDbXref UMLS_CUI:C0311273 semapv:UnspecifiedMatching +DOID:14270 ascending cholangitis oboInOwl:hasDbXref NCI:C35372 semapv:UnspecifiedMatching +DOID:14270 ascending cholangitis oboInOwl:hasDbXref ICD10CM:K83.09 semapv:UnspecifiedMatching DOID:14271 acute cholangitis oboInOwl:hasDbXref NCI:C35334 semapv:UnspecifiedMatching DOID:14271 acute cholangitis oboInOwl:hasDbXref UMLS_CUI:C0267917 semapv:UnspecifiedMatching DOID:14272 pericholangitis oboInOwl:hasDbXref NCI:C34916 semapv:UnspecifiedMatching @@ -18376,63 +18403,63 @@ DOID:14275 atrophic vulva oboInOwl:hasDbXref UMLS_CUI:C0156393 semapv:Unspecifie DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref ICD10CM:M75.4 semapv:UnspecifiedMatching DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref MESH:D019534 semapv:UnspecifiedMatching DOID:14276 shoulder impingement syndrome oboInOwl:hasDbXref UMLS_CUI:C0376685 semapv:UnspecifiedMatching +DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref ICD10CM:E16 semapv:UnspecifiedMatching DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref ICD9CM:251 semapv:UnspecifiedMatching DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref UMLS_CUI:C0154189 semapv:UnspecifiedMatching -DOID:1428 endocrine pancreas disease oboInOwl:hasDbXref ICD10CM:E16 semapv:UnspecifiedMatching +DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS_CUI:C0029411 semapv:UnspecifiedMatching +DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref ICD10CM:M89.4 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref MESH:D010004 semapv:UnspecifiedMatching DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref NCI:C85023 semapv:UnspecifiedMatching -DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref OMIM:259100 semapv:UnspecifiedMatching -DOID:14283 primary hypertrophic osteoarthropathy oboInOwl:hasDbXref UMLS_CUI:C0029411 semapv:UnspecifiedMatching DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref MESH:D046788 semapv:UnspecifiedMatching DOID:14284 patellofemoral pain syndrome oboInOwl:hasDbXref UMLS_CUI:C0877149 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref ICD10CM:M14.6 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref ICD9CM:713.5 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref MESH:D001177 semapv:UnspecifiedMatching DOID:14286 neurogenic arthropathy oboInOwl:hasDbXref UMLS_CUI:C0003892 semapv:UnspecifiedMatching -DOID:14287 brawny scleritis oboInOwl:hasDbXref UMLS_CUI:C0155356 semapv:UnspecifiedMatching -DOID:14287 brawny scleritis oboInOwl:hasDbXref ICD9CM:379.06 semapv:UnspecifiedMatching DOID:14287 brawny scleritis oboInOwl:hasDbXref ICD10CM:H15.02 semapv:UnspecifiedMatching -DOID:14289 Ebstein anomaly oboInOwl:hasDbXref OMIM:224700 semapv:UnspecifiedMatching +DOID:14287 brawny scleritis oboInOwl:hasDbXref ICD9CM:379.06 semapv:UnspecifiedMatching +DOID:14287 brawny scleritis oboInOwl:hasDbXref UMLS_CUI:C0155356 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref UMLS_CUI:C0013481 semapv:UnspecifiedMatching +DOID:14289 Ebstein anomaly oboInOwl:hasDbXref OMIM:224700 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref NCI:C84681 semapv:UnspecifiedMatching -DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD9CM:746.2 semapv:UnspecifiedMatching +DOID:14289 Ebstein anomaly oboInOwl:hasDbXref MESH:D004437 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD10CM:Q22.5 semapv:UnspecifiedMatching DOID:14289 Ebstein anomaly oboInOwl:hasDbXref GARD:6313 semapv:UnspecifiedMatching -DOID:14289 Ebstein anomaly oboInOwl:hasDbXref MESH:D004437 semapv:UnspecifiedMatching +DOID:14289 Ebstein anomaly oboInOwl:hasDbXref ICD9CM:746.2 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref GARD:1100 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref MESH:D044542 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref NCI:C84820 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref OMIMPS:151100 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref ORDO:500 semapv:UnspecifiedMatching DOID:14291 Noonan syndrome with multiple lentigines oboInOwl:hasDbXref UMLS_CUI:C0175704 semapv:UnspecifiedMatching -DOID:14292 vulvar dystrophy oboInOwl:hasDbXref NCI:C34565 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref UMLS_CUI:C0013426 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref ICD10CM:N90.4 semapv:UnspecifiedMatching DOID:14292 vulvar dystrophy oboInOwl:hasDbXref ICD9CM:624.0 semapv:UnspecifiedMatching -DOID:14305 tuberculous empyema oboInOwl:hasDbXref MESH:D004654 semapv:UnspecifiedMatching +DOID:14292 vulvar dystrophy oboInOwl:hasDbXref NCI:C34565 semapv:UnspecifiedMatching DOID:14305 tuberculous empyema oboInOwl:hasDbXref NCI:C34575 semapv:UnspecifiedMatching DOID:14305 tuberculous empyema oboInOwl:hasDbXref UMLS_CUI:C0014014 semapv:UnspecifiedMatching +DOID:14305 tuberculous empyema oboInOwl:hasDbXref MESH:D004654 semapv:UnspecifiedMatching DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref MESH:D000796 semapv:UnspecifiedMatching DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref NCI:C7393 semapv:UnspecifiedMatching DOID:14308 skin epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C0002989 semapv:UnspecifiedMatching DOID:14319 pleuropneumonia oboInOwl:hasDbXref MESH:D011001 semapv:UnspecifiedMatching DOID:14319 pleuropneumonia oboInOwl:hasDbXref UMLS_CUI:C0032241 semapv:UnspecifiedMatching +DOID:1432 blindness oboInOwl:hasDbXref ICD9CM:369 semapv:UnspecifiedMatching DOID:1432 blindness oboInOwl:hasDbXref UMLS_CUI:C0155020 semapv:UnspecifiedMatching DOID:1432 blindness oboInOwl:hasDbXref ICD10CM:H54 semapv:UnspecifiedMatching -DOID:1432 blindness oboInOwl:hasDbXref ICD9CM:369 semapv:UnspecifiedMatching -DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref NCI:C92622 semapv:UnspecifiedMatching -DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref UMLS_CUI:C0270549 semapv:UnspecifiedMatching DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref ICD10CM:F41.1 semapv:UnspecifiedMatching DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref ICD9CM:300.02 semapv:UnspecifiedMatching +DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref NCI:C92622 semapv:UnspecifiedMatching +DOID:14320 generalized anxiety disorder oboInOwl:hasDbXref UMLS_CUI:C0270549 semapv:UnspecifiedMatching +DOID:14323 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome skos:exactMatch MESH:D008382 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref UMLS_CUI:C0024796 semapv:UnspecifiedMatching -DOID:14323 Marfan syndrome oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref NCI:C34807 semapv:UnspecifiedMatching -DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD10CM:Q87.4 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD9CM:759.82 semapv:UnspecifiedMatching -DOID:14323 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching +DOID:14323 Marfan syndrome oboInOwl:hasDbXref ICD10CM:Q87.4 semapv:UnspecifiedMatching DOID:14323 Marfan syndrome oboInOwl:hasDbXref GARD:6975 semapv:UnspecifiedMatching +DOID:14323 Marfan syndrome oboInOwl:hasDbXref MESH:D008382 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref ICD10CM:B52 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref ICD9CM:084.2 semapv:UnspecifiedMatching DOID:14324 Plasmodium malariae malaria oboInOwl:hasDbXref NCI:C34799 semapv:UnspecifiedMatching @@ -18443,12 +18470,12 @@ DOID:14330 Parkinson's disease oboInOwl:hasDbXref NCI:C26845 semapv:UnspecifiedM DOID:14330 Parkinson's disease oboInOwl:hasDbXref UMLS_CUI:C0030567 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref ORDO:2828 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref OMIMPS:168600 semapv:UnspecifiedMatching -DOID:14330 Parkinson's disease oboInOwl:hasDbXref MESH:D010300 semapv:UnspecifiedMatching -DOID:14330 Parkinson's disease oboInOwl:hasDbXref ICD9CM:332 semapv:UnspecifiedMatching +DOID:14330 Parkinson's disease oboInOwl:hasDbXref KEGG:05012 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref ICD10CM:G20 semapv:UnspecifiedMatching +DOID:14330 Parkinson's disease oboInOwl:hasDbXref ICD9CM:332 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref GARD:10251 semapv:UnspecifiedMatching DOID:14330 Parkinson's disease oboInOwl:hasDbXref EFO:0002508 semapv:UnspecifiedMatching -DOID:14330 Parkinson's disease oboInOwl:hasDbXref KEGG:05012 semapv:UnspecifiedMatching +DOID:14330 Parkinson's disease oboInOwl:hasDbXref MESH:D010300 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref ICD10CM:G21.3 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref MESH:D010301 semapv:UnspecifiedMatching DOID:14332 postencephalitic Parkinson disease oboInOwl:hasDbXref NCI:C34898 semapv:UnspecifiedMatching @@ -18457,8 +18484,8 @@ DOID:14336 estrogen excess oboInOwl:hasDbXref ICD10CM:E28.0 semapv:UnspecifiedMa DOID:14336 estrogen excess oboInOwl:hasDbXref ICD9CM:256.0 semapv:UnspecifiedMatching DOID:14336 estrogen excess oboInOwl:hasDbXref NCI:C113344 semapv:UnspecifiedMatching DOID:14336 estrogen excess oboInOwl:hasDbXref UMLS_CUI:C0154209 semapv:UnspecifiedMatching -DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref NCI:C129724 semapv:UnspecifiedMatching DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040150 semapv:UnspecifiedMatching +DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref NCI:C129724 semapv:UnspecifiedMatching DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref MESH:D013969 semapv:UnspecifiedMatching DOID:14350 suppurative thyroiditis oboInOwl:hasDbXref ICD10CM:E06.0 semapv:UnspecifiedMatching DOID:14351 Riedel's fibrosing thyroiditis oboInOwl:hasDbXref ICD10CM:E06.5 semapv:UnspecifiedMatching @@ -18471,48 +18498,48 @@ DOID:1436 corneal ectasia oboInOwl:hasDbXref ICD10CM:H18.71 semapv:UnspecifiedMa DOID:1436 corneal ectasia oboInOwl:hasDbXref ICD9CM:371.71 semapv:UnspecifiedMatching DOID:1436 corneal ectasia oboInOwl:hasDbXref UMLS_CUI:C0155135 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref NCI:C98864 semapv:UnspecifiedMatching -DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0342788 semapv:UnspecifiedMatching +DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref MESH:C536778 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref OMIM:212140 semapv:UnspecifiedMatching -DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD9CM:277.81 semapv:UnspecifiedMatching DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD10CM:E71.41 semapv:UnspecifiedMatching -DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref MESH:C536778 semapv:UnspecifiedMatching +DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref ICD9CM:277.81 semapv:UnspecifiedMatching +DOID:14365 systemic primary carnitine deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0342788 semapv:UnspecifiedMatching DOID:14374 norwegian scabies oboInOwl:hasDbXref NCI:C34855 semapv:UnspecifiedMatching DOID:14374 norwegian scabies oboInOwl:hasDbXref UMLS_CUI:C0028425 semapv:UnspecifiedMatching DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263888 semapv:UnspecifiedMatching -DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.3 semapv:UnspecifiedMatching -DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.3 semapv:UnspecifiedMatching -DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref NCI:C5573 semapv:UnspecifiedMatching DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153637 semapv:UnspecifiedMatching -DOID:1439 pyuria oboInOwl:hasDbXref NCI:C119028 semapv:UnspecifiedMatching -DOID:1439 pyuria oboInOwl:hasDbXref UMLS_CUI:C0034359 semapv:UnspecifiedMatching +DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref NCI:C5573 semapv:UnspecifiedMatching +DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.3 semapv:UnspecifiedMatching +DOID:14384 parietal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.3 semapv:UnspecifiedMatching DOID:1439 pyuria oboInOwl:hasDbXref ICD10CM:R82.81 semapv:UnspecifiedMatching DOID:1439 pyuria oboInOwl:hasDbXref MESH:D011776 semapv:UnspecifiedMatching +DOID:1439 pyuria oboInOwl:hasDbXref NCI:C119028 semapv:UnspecifiedMatching +DOID:1439 pyuria oboInOwl:hasDbXref UMLS_CUI:C0034359 semapv:UnspecifiedMatching +DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref ICD10CM:I82.1 semapv:UnspecifiedMatching DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref ICD9CM:453.1 semapv:UnspecifiedMatching DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref UMLS_CUI:C0152250 semapv:UnspecifiedMatching -DOID:14392 thrombophlebitis migrans oboInOwl:hasDbXref ICD10CM:I82.1 semapv:UnspecifiedMatching +DOID:14397 protozoal dysentery oboInOwl:hasDbXref ICD10CM:A07.8 semapv:UnspecifiedMatching DOID:14397 protozoal dysentery oboInOwl:hasDbXref ICD9CM:007.8 semapv:UnspecifiedMatching DOID:14397 protozoal dysentery oboInOwl:hasDbXref UMLS_CUI:C0152507 semapv:UnspecifiedMatching -DOID:14397 protozoal dysentery oboInOwl:hasDbXref ICD10CM:A07.8 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref MESH:D017827 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref NCI:C84830 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching -DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref UMLS_CUI:C0024408 semapv:UnspecifiedMatching DOID:1440 Machado-Joseph disease skos:exactMatch MESH:D017827 semapv:UnspecifiedMatching -DOID:14400 capillary leak syndrome skos:exactMatch MESH:D019559 semapv:UnspecifiedMatching -DOID:14400 capillary leak syndrome oboInOwl:hasDbXref UMLS_CUI:C0343084 semapv:UnspecifiedMatching -DOID:14400 capillary leak syndrome oboInOwl:hasDbXref ORDO:188 semapv:UnspecifiedMatching -DOID:14400 capillary leak syndrome oboInOwl:hasDbXref NCI:C62578 semapv:UnspecifiedMatching -DOID:14400 capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching +DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref UMLS_CUI:C0024408 semapv:UnspecifiedMatching +DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching +DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref NCI:C84830 semapv:UnspecifiedMatching +DOID:1440 Machado-Joseph disease oboInOwl:hasDbXref MESH:D017827 semapv:UnspecifiedMatching DOID:14400 capillary leak syndrome oboInOwl:hasDbXref GARD:1084 semapv:UnspecifiedMatching +DOID:14400 capillary leak syndrome oboInOwl:hasDbXref MESH:D019559 semapv:UnspecifiedMatching +DOID:14400 capillary leak syndrome oboInOwl:hasDbXref NCI:C62578 semapv:UnspecifiedMatching +DOID:14400 capillary leak syndrome oboInOwl:hasDbXref ORDO:188 semapv:UnspecifiedMatching +DOID:14400 capillary leak syndrome oboInOwl:hasDbXref UMLS_CUI:C0343084 semapv:UnspecifiedMatching +DOID:14400 capillary leak syndrome skos:exactMatch MESH:D019559 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref ICD10CM:G62.81 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref ICD9CM:357.82 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref MESH:D011115 semapv:UnspecifiedMatching DOID:14402 critical illness polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0393851 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref UMLS_CUI:C0087012 semapv:UnspecifiedMatching +DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref OMIMPS:164400 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref ORDO:94 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref MESH:D020754 semapv:UnspecifiedMatching DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref NCI:C82341 semapv:UnspecifiedMatching -DOID:1441 autosomal dominant cerebellar ataxia oboInOwl:hasDbXref OMIMPS:164400 semapv:UnspecifiedMatching DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref ICD9CM:386.56 semapv:UnspecifiedMatching DOID:14413 labyrinthine bilateral reactive loss oboInOwl:hasDbXref UMLS_CUI:C0155520 semapv:UnspecifiedMatching DOID:14415 Legg-Calve-Perthes disease oboInOwl:hasDbXref GARD:6874 semapv:UnspecifiedMatching @@ -18537,260 +18564,260 @@ DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref ICD10CM:G52.1 semapv:Un DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref ICD9CM:352.1 semapv:UnspecifiedMatching DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref MESH:D020435 semapv:UnspecifiedMatching DOID:14423 glossopharyngeal neuralgia oboInOwl:hasDbXref UMLS_CUI:C0154731 semapv:UnspecifiedMatching -DOID:14427 abnormality of glucagon secretion oboInOwl:hasDbXref ICD9CM:251.4 semapv:UnspecifiedMatching DOID:14427 abnormality of glucagon secretion oboInOwl:hasDbXref UMLS_CUI:C0154191 semapv:UnspecifiedMatching +DOID:14427 abnormality of glucagon secretion oboInOwl:hasDbXref ICD9CM:251.4 semapv:UnspecifiedMatching DOID:1443 cerebral degeneration oboInOwl:hasDbXref ICD9CM:331.9 semapv:UnspecifiedMatching DOID:1443 cerebral degeneration oboInOwl:hasDbXref UMLS_CUI:C0154671 semapv:UnspecifiedMatching DOID:1443 cerebral degeneration oboInOwl:hasDbXref GARD:6019 semapv:UnspecifiedMatching -DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref ICD10CM:H66.1 semapv:UnspecifiedMatching DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref ICD9CM:382.1 semapv:UnspecifiedMatching DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref UMLS_CUI:C0155440 semapv:UnspecifiedMatching +DOID:14435 chronic tubotympanic suppurative otitis media oboInOwl:hasDbXref ICD10CM:H66.1 semapv:UnspecifiedMatching DOID:14443 cholinergic urticaria oboInOwl:hasDbXref ICD10CM:L50.5 semapv:UnspecifiedMatching DOID:14443 cholinergic urticaria oboInOwl:hasDbXref ICD9CM:708.5 semapv:UnspecifiedMatching DOID:14443 cholinergic urticaria oboInOwl:hasDbXref UMLS_CUI:C0152230 semapv:UnspecifiedMatching DOID:14444 sclerosing keratitis oboInOwl:hasDbXref ICD10CM:H16.33 semapv:UnspecifiedMatching DOID:14444 sclerosing keratitis oboInOwl:hasDbXref ICD9CM:370.54 semapv:UnspecifiedMatching DOID:14444 sclerosing keratitis oboInOwl:hasDbXref UMLS_CUI:C0155090 semapv:UnspecifiedMatching -DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.22 semapv:UnspecifiedMatching -DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.23 semapv:UnspecifiedMatching DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref UMLS_CUI:C0154947 semapv:UnspecifiedMatching -DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0018051 semapv:UnspecifiedMatching -DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref NCI:C61420 semapv:UnspecifiedMatching +DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref ICD9CM:365.23 semapv:UnspecifiedMatching +DOID:14445 chronic closed-angle glaucoma oboInOwl:hasDbXref ICD10CM:H40.22 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref GARD:2538 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref ICD9CM:758.6 semapv:UnspecifiedMatching DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref MESH:D006059 semapv:UnspecifiedMatching +DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref NCI:C61420 semapv:UnspecifiedMatching +DOID:14447 gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0018051 semapv:UnspecifiedMatching +DOID:14448 46,XY sex reversal oboInOwl:hasDbXref UMLS_CUI:C0018054 semapv:UnspecifiedMatching +DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIMPS:400044 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref MESH:D006061 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref NCI:C120198 semapv:UnspecifiedMatching DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIM:607080 semapv:UnspecifiedMatching -DOID:14448 46,XY sex reversal oboInOwl:hasDbXref OMIMPS:400044 semapv:UnspecifiedMatching -DOID:14448 46,XY sex reversal oboInOwl:hasDbXref UMLS_CUI:C0018054 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref MESH:D006060 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref NCI:C120199 semapv:UnspecifiedMatching DOID:14449 mixed gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0018055 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0949595 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref ORDO:243 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref OMIMPS:233300 semapv:UnspecifiedMatching -DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref NCI:C120197 semapv:UnspecifiedMatching DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref MESH:D023961 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref GARD:195 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref NCI:C123429 semapv:UnspecifiedMatching +DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref NCI:C120197 semapv:UnspecifiedMatching +DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref OMIMPS:233300 semapv:UnspecifiedMatching +DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref ORDO:243 semapv:UnspecifiedMatching +DOID:14450 46 XX gonadal dysgenesis oboInOwl:hasDbXref UMLS_CUI:C0949595 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref OMIM:170500 semapv:UnspecifiedMatching -DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ORDO:682 semapv:UnspecifiedMatching DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0238357 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ORDO:681 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref NCI:C84775 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0238358 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching -DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:6729 semapv:UnspecifiedMatching +DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ORDO:682 semapv:UnspecifiedMatching +DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref NCI:C123429 semapv:UnspecifiedMatching +DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref MESH:D020513 semapv:UnspecifiedMatching +DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching +DOID:14451 hyperkalemic periodic paralysis oboInOwl:hasDbXref GARD:195 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:5557 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref GARD:6729 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ICD10CM:G72.3 semapv:UnspecifiedMatching DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref MESH:D020514 semapv:UnspecifiedMatching -DOID:14453 farmer's lung oboInOwl:hasDbXref GARD:6427 semapv:UnspecifiedMatching -DOID:14453 farmer's lung oboInOwl:hasDbXref ICD10CM:J67.0 semapv:UnspecifiedMatching -DOID:14453 farmer's lung oboInOwl:hasDbXref ICD9CM:495.0 semapv:UnspecifiedMatching -DOID:14453 farmer's lung oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching -DOID:14453 farmer's lung oboInOwl:hasDbXref NCI:C34605 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref NCI:C84775 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:170400 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref OMIM:613345 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref ORDO:681 semapv:UnspecifiedMatching +DOID:14452 hypokalemic periodic paralysis oboInOwl:hasDbXref UMLS_CUI:C0238358 semapv:UnspecifiedMatching DOID:14453 farmer's lung oboInOwl:hasDbXref UMLS_CUI:C0015634 semapv:UnspecifiedMatching +DOID:14453 farmer's lung oboInOwl:hasDbXref NCI:C34605 semapv:UnspecifiedMatching +DOID:14453 farmer's lung oboInOwl:hasDbXref MESH:D005203 semapv:UnspecifiedMatching +DOID:14453 farmer's lung oboInOwl:hasDbXref ICD9CM:495.0 semapv:UnspecifiedMatching +DOID:14453 farmer's lung oboInOwl:hasDbXref ICD10CM:J67.0 semapv:UnspecifiedMatching +DOID:14453 farmer's lung oboInOwl:hasDbXref GARD:6427 semapv:UnspecifiedMatching DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref ICD10CM:A23.0 semapv:UnspecifiedMatching DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref ICD9CM:023.0 semapv:UnspecifiedMatching DOID:14456 Brucella melitensis brucellosis oboInOwl:hasDbXref UMLS_CUI:C0302362 semapv:UnspecifiedMatching -DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref MESH:D002007 semapv:UnspecifiedMatching -DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref UMLS_CUI:C0302363 semapv:UnspecifiedMatching DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref ICD10CM:A23.1 semapv:UnspecifiedMatching DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref ICD9CM:023.1 semapv:UnspecifiedMatching +DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref MESH:D002007 semapv:UnspecifiedMatching +DOID:14457 Brucella abortus brucellosis oboInOwl:hasDbXref UMLS_CUI:C0302363 semapv:UnspecifiedMatching DOID:14459 hemangioma of orbit oboInOwl:hasDbXref NCI:C6245 semapv:UnspecifiedMatching DOID:14459 hemangioma of orbit oboInOwl:hasDbXref UMLS_CUI:C1335128 semapv:UnspecifiedMatching DOID:14463 cavernous hemangioma of orbit oboInOwl:hasDbXref NCI:C4546 semapv:UnspecifiedMatching DOID:14463 cavernous hemangioma of orbit oboInOwl:hasDbXref UMLS_CUI:C0346352 semapv:UnspecifiedMatching -DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS_CUI:C0027849 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ORDO:94093 semapv:UnspecifiedMatching -DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref NCI:C94829 semapv:UnspecifiedMatching +DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref UMLS_CUI:C0027849 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref MESH:D009459 semapv:UnspecifiedMatching +DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref NCI:C94829 semapv:UnspecifiedMatching +DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ICD9CM:333.92 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ICD10CM:G21.0 semapv:UnspecifiedMatching DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref GARD:7195 semapv:UnspecifiedMatching -DOID:14464 neuroleptic malignant syndrome oboInOwl:hasDbXref ICD9CM:333.92 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref GARD:69 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref MESH:D018804 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref NCI:C84747 semapv:UnspecifiedMatching DOID:14472 hantavirus pulmonary syndrome oboInOwl:hasDbXref UMLS_CUI:C0243025 semapv:UnspecifiedMatching -DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref UMLS_CUI:C0019343 semapv:UnspecifiedMatching -DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 semapv:UnspecifiedMatching DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref ICD10CM:O26.4 semapv:UnspecifiedMatching +DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref MESH:D006559 semapv:UnspecifiedMatching DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref NCI:C85003 semapv:UnspecifiedMatching +DOID:14482 pemphigoid gestationis oboInOwl:hasDbXref UMLS_CUI:C0019343 semapv:UnspecifiedMatching DOID:14483 chorea gravidarum oboInOwl:hasDbXref MESH:D020150 semapv:UnspecifiedMatching DOID:14483 chorea gravidarum oboInOwl:hasDbXref UMLS_CUI:C0264746 semapv:UnspecifiedMatching +DOID:14484 sporotrichosis oboInOwl:hasDbXref UMLS_CUI:C0038034 semapv:UnspecifiedMatching +DOID:14484 sporotrichosis oboInOwl:hasDbXref MESH:D013174 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref GARD:7692 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref ICD10CM:B42 semapv:UnspecifiedMatching DOID:14484 sporotrichosis oboInOwl:hasDbXref ICD9CM:117.1 semapv:UnspecifiedMatching -DOID:14484 sporotrichosis oboInOwl:hasDbXref MESH:D013174 semapv:UnspecifiedMatching -DOID:14484 sporotrichosis oboInOwl:hasDbXref UMLS_CUI:C0038034 semapv:UnspecifiedMatching DOID:14489 ureteral lymphoma oboInOwl:hasDbXref NCI:C6175 semapv:UnspecifiedMatching DOID:14489 ureteral lymphoma oboInOwl:hasDbXref UMLS_CUI:C1336876 semapv:UnspecifiedMatching DOID:14491 regional ureteric cancer oboInOwl:hasDbXref NCI:C9356 semapv:UnspecifiedMatching DOID:14491 regional ureteric cancer oboInOwl:hasDbXref UMLS_CUI:C0854921 semapv:UnspecifiedMatching -DOID:14495 dumping syndrome oboInOwl:hasDbXref UMLS_CUI:C0013288 semapv:UnspecifiedMatching -DOID:14495 dumping syndrome oboInOwl:hasDbXref NCI:C2994 semapv:UnspecifiedMatching -DOID:14495 dumping syndrome oboInOwl:hasDbXref MESH:D004377 semapv:UnspecifiedMatching DOID:14495 dumping syndrome oboInOwl:hasDbXref ICD10CM:K91.1 semapv:UnspecifiedMatching -DOID:14497 Wolman disease oboInOwl:hasDbXref GARD:7899 semapv:UnspecifiedMatching -DOID:14497 Wolman disease oboInOwl:hasDbXref ICD10CM:E75.5 semapv:UnspecifiedMatching -DOID:14497 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:UnspecifiedMatching -DOID:14497 Wolman disease oboInOwl:hasDbXref NCI:C61271 semapv:UnspecifiedMatching +DOID:14495 dumping syndrome oboInOwl:hasDbXref MESH:D004377 semapv:UnspecifiedMatching +DOID:14495 dumping syndrome oboInOwl:hasDbXref NCI:C2994 semapv:UnspecifiedMatching +DOID:14495 dumping syndrome oboInOwl:hasDbXref UMLS_CUI:C0013288 semapv:UnspecifiedMatching DOID:14497 Wolman disease oboInOwl:hasDbXref UMLS_CUI:C0043208 semapv:UnspecifiedMatching +DOID:14497 Wolman disease oboInOwl:hasDbXref NCI:C61271 semapv:UnspecifiedMatching +DOID:14497 Wolman disease oboInOwl:hasDbXref MESH:D015223 semapv:UnspecifiedMatching +DOID:14497 Wolman disease oboInOwl:hasDbXref ICD10CM:E75.5 semapv:UnspecifiedMatching +DOID:14497 Wolman disease oboInOwl:hasDbXref GARD:7899 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref GARD:3268 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref MESH:D008065 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref NCI:C84829 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref OMIM:247100 semapv:UnspecifiedMatching DOID:14498 lipoid proteinosis oboInOwl:hasDbXref UMLS_CUI:C0023795 semapv:UnspecifiedMatching -DOID:14499 Fabry disease oboInOwl:hasDbXref UMLS_CUI:C0002986 semapv:UnspecifiedMatching -DOID:14499 Fabry disease oboInOwl:hasDbXref NCI:C84701 semapv:UnspecifiedMatching -DOID:14499 Fabry disease oboInOwl:hasDbXref OMIM:301500 semapv:UnspecifiedMatching -DOID:14499 Fabry disease oboInOwl:hasDbXref ICD10CM:E75.21 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref GARD:6400 semapv:UnspecifiedMatching +DOID:14499 Fabry disease oboInOwl:hasDbXref ICD10CM:E75.21 semapv:UnspecifiedMatching DOID:14499 Fabry disease oboInOwl:hasDbXref MESH:D000795 semapv:UnspecifiedMatching +DOID:14499 Fabry disease oboInOwl:hasDbXref NCI:C84701 semapv:UnspecifiedMatching +DOID:14499 Fabry disease oboInOwl:hasDbXref OMIM:301500 semapv:UnspecifiedMatching +DOID:14499 Fabry disease oboInOwl:hasDbXref UMLS_CUI:C0002986 semapv:UnspecifiedMatching +DOID:14500 fucosidosis oboInOwl:hasDbXref UMLS_CUI:C0016788 semapv:UnspecifiedMatching +DOID:14500 fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching +DOID:14500 fucosidosis oboInOwl:hasDbXref NCI:C61274 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref GARD:6473 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref ICD10CM:E77.1 semapv:UnspecifiedMatching DOID:14500 fucosidosis oboInOwl:hasDbXref MESH:D005645 semapv:UnspecifiedMatching -DOID:14500 fucosidosis oboInOwl:hasDbXref NCI:C61274 semapv:UnspecifiedMatching -DOID:14500 fucosidosis oboInOwl:hasDbXref OMIM:230000 semapv:UnspecifiedMatching -DOID:14500 fucosidosis oboInOwl:hasDbXref UMLS_CUI:C0016788 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref GARD:7654 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref MESH:D016111 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref NCI:C85070 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref OMIM:270200 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref ORDO:816 semapv:UnspecifiedMatching DOID:14501 Sjogren-Larsson syndrome oboInOwl:hasDbXref UMLS_CUI:C0037231 semapv:UnspecifiedMatching -DOID:14502 cholesterol ester storage disease skos:exactMatch MESH:D015217 semapv:UnspecifiedMatching -DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref MESH:D015217 semapv:UnspecifiedMatching DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref UMLS_CUI:C0008384 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref GARD:10739 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:D009472 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref NCI:C61257 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIMPS:256730 semapv:UnspecifiedMatching +DOID:14502 cholesterol ester storage disease oboInOwl:hasDbXref MESH:D015217 semapv:UnspecifiedMatching +DOID:14502 cholesterol ester storage disease skos:exactMatch MESH:D015217 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS_CUI:C0027877 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ORDO:216 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIMPS:256730 semapv:UnspecifiedMatching DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ORDO:79262 semapv:UnspecifiedMatching -DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS_CUI:C0027877 semapv:UnspecifiedMatching -DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref UMLS_CUI:C0028064 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MESH:D009472 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref GARD:10739 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref NCI:C61257 semapv:UnspecifiedMatching +DOID:14503 neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10CM:E75.4 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref GARD:13334 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref ICD10CM:E75.24 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref MESH:D009542 semapv:UnspecifiedMatching DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref NCI:C61269 semapv:UnspecifiedMatching -DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref UMLS_CUI:C0155123 semapv:UnspecifiedMatching +DOID:14504 Niemann-Pick disease oboInOwl:hasDbXref UMLS_CUI:C0028064 semapv:UnspecifiedMatching DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref ICD10CM:H18.46 semapv:UnspecifiedMatching DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref ICD9CM:371.48 semapv:UnspecifiedMatching +DOID:14507 peripheral degeneration of cornea oboInOwl:hasDbXref UMLS_CUI:C0155123 semapv:UnspecifiedMatching DOID:14512 candidal paronychia oboInOwl:hasDbXref ICD10CM:B37.2 semapv:UnspecifiedMatching DOID:14512 candidal paronychia oboInOwl:hasDbXref ICD9CM:112.3 semapv:UnspecifiedMatching DOID:14512 candidal paronychia oboInOwl:hasDbXref UMLS_CUI:C0006842 semapv:UnspecifiedMatching -DOID:14515 WAGR syndrome oboInOwl:hasDbXref GARD:5528 semapv:UnspecifiedMatching +DOID:14515 WAGR syndrome oboInOwl:hasDbXref UMLS_CUI:C0206115 semapv:UnspecifiedMatching +DOID:14515 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref MESH:D017624 semapv:UnspecifiedMatching DOID:14515 WAGR syndrome oboInOwl:hasDbXref NCI:C3718 semapv:UnspecifiedMatching -DOID:14515 WAGR syndrome oboInOwl:hasDbXref OMIM:194072 semapv:UnspecifiedMatching -DOID:14515 WAGR syndrome oboInOwl:hasDbXref UMLS_CUI:C0206115 semapv:UnspecifiedMatching +DOID:14515 WAGR syndrome oboInOwl:hasDbXref GARD:5528 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref ICD10CM:H34.21 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref ICD9CM:362.33 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref NCI:C35192 semapv:UnspecifiedMatching DOID:14522 partial arterial retinal occlusion oboInOwl:hasDbXref UMLS_CUI:C0154839 semapv:UnspecifiedMatching -DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref UMLS_CUI:C0155375 semapv:UnspecifiedMatching DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref ICD10CM:H57.01 semapv:UnspecifiedMatching DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref ICD9CM:379.45 semapv:UnspecifiedMatching +DOID:14523 Argyll Robertson pupil oboInOwl:hasDbXref UMLS_CUI:C0155375 semapv:UnspecifiedMatching DOID:14524 senile degeneration of brain oboInOwl:hasDbXref ICD9CM:331.2 semapv:UnspecifiedMatching DOID:14524 senile degeneration of brain oboInOwl:hasDbXref UMLS_CUI:C0154669 semapv:UnspecifiedMatching -DOID:14525 Reye syndrome oboInOwl:hasDbXref GARD:7570 semapv:UnspecifiedMatching +DOID:14525 Reye syndrome oboInOwl:hasDbXref UMLS_CUI:C0035400 semapv:UnspecifiedMatching +DOID:14525 Reye syndrome oboInOwl:hasDbXref NCI:C34983 semapv:UnspecifiedMatching +DOID:14525 Reye syndrome oboInOwl:hasDbXref MESH:D012202 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref ICD10CM:G93.7 semapv:UnspecifiedMatching +DOID:14525 Reye syndrome oboInOwl:hasDbXref GARD:7570 semapv:UnspecifiedMatching DOID:14525 Reye syndrome oboInOwl:hasDbXref ICD9CM:331.81 semapv:UnspecifiedMatching -DOID:14525 Reye syndrome oboInOwl:hasDbXref MESH:D012202 semapv:UnspecifiedMatching -DOID:14525 Reye syndrome oboInOwl:hasDbXref NCI:C34983 semapv:UnspecifiedMatching -DOID:14525 Reye syndrome oboInOwl:hasDbXref UMLS_CUI:C0035400 semapv:UnspecifiedMatching DOID:14529 external pathological resorption oboInOwl:hasDbXref ICD10CM:K03.3 semapv:UnspecifiedMatching DOID:14529 external pathological resorption oboInOwl:hasDbXref ICD9CM:521.42 semapv:UnspecifiedMatching DOID:14529 external pathological resorption oboInOwl:hasDbXref UMLS_CUI:C0266878 semapv:UnspecifiedMatching -DOID:1453 atrophic glossitis oboInOwl:hasDbXref UMLS_CUI:C0155964 semapv:UnspecifiedMatching DOID:1453 atrophic glossitis oboInOwl:hasDbXref ICD10CM:K14.4 semapv:UnspecifiedMatching DOID:1453 atrophic glossitis oboInOwl:hasDbXref ICD9CM:529.4 semapv:UnspecifiedMatching +DOID:1453 atrophic glossitis oboInOwl:hasDbXref UMLS_CUI:C0155964 semapv:UnspecifiedMatching DOID:14534 malignant cardiac peripheral nerve sheath neoplasm oboInOwl:hasDbXref NCI:C5367 semapv:UnspecifiedMatching DOID:14534 malignant cardiac peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334569 semapv:UnspecifiedMatching DOID:14535 malignant cardiac germ cell tumor oboInOwl:hasDbXref NCI:C5371 semapv:UnspecifiedMatching DOID:14535 malignant cardiac germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334566 semapv:UnspecifiedMatching DOID:14544 rete testis adenocarcinoma oboInOwl:hasDbXref NCI:C8955 semapv:UnspecifiedMatching DOID:14544 rete testis adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0863024 semapv:UnspecifiedMatching -DOID:14545 seminal vesicle adenocarcinoma oboInOwl:hasDbXref NCI:C39906 semapv:UnspecifiedMatching DOID:14545 seminal vesicle adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519233 semapv:UnspecifiedMatching -DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref NCI:C3543 semapv:UnspecifiedMatching -DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153479 semapv:UnspecifiedMatching +DOID:14545 seminal vesicle adenocarcinoma oboInOwl:hasDbXref NCI:C39906 semapv:UnspecifiedMatching DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref ICD10CM:C31.3 semapv:UnspecifiedMatching DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref ICD9CM:160.5 semapv:UnspecifiedMatching +DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref NCI:C3543 semapv:UnspecifiedMatching +DOID:14546 sphenoidal sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153479 semapv:UnspecifiedMatching DOID:14547 sphenoid sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6066 semapv:UnspecifiedMatching DOID:14547 sphenoid sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336039 semapv:UnspecifiedMatching -DOID:14548 steroid-induced glaucoma - borderline oboInOwl:hasDbXref ICD9CM:365.03 semapv:UnspecifiedMatching DOID:14548 steroid-induced glaucoma - borderline oboInOwl:hasDbXref UMLS_CUI:C0339572 semapv:UnspecifiedMatching -DOID:1455 geographic tongue oboInOwl:hasDbXref NCI:C84588 semapv:UnspecifiedMatching -DOID:1455 geographic tongue oboInOwl:hasDbXref MESH:D005929 semapv:UnspecifiedMatching -DOID:1455 geographic tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching -DOID:1455 geographic tongue oboInOwl:hasDbXref ICD10CM:K14.1 semapv:UnspecifiedMatching +DOID:14548 steroid-induced glaucoma - borderline oboInOwl:hasDbXref ICD9CM:365.03 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref GARD:6493 semapv:UnspecifiedMatching +DOID:1455 geographic tongue oboInOwl:hasDbXref ICD10CM:K14.1 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref ICD9CM:529.1 semapv:UnspecifiedMatching +DOID:1455 geographic tongue oboInOwl:hasDbXref MESH:D005929 semapv:UnspecifiedMatching +DOID:1455 geographic tongue oboInOwl:hasDbXref NCI:C84588 semapv:UnspecifiedMatching +DOID:1455 geographic tongue oboInOwl:hasDbXref OMIM:137400 semapv:UnspecifiedMatching DOID:1455 geographic tongue oboInOwl:hasDbXref UMLS_CUI:C0017677 semapv:UnspecifiedMatching -DOID:14550 root resorption oboInOwl:hasDbXref UMLS_CUI:C0035851 semapv:UnspecifiedMatching DOID:14550 root resorption oboInOwl:hasDbXref MESH:D012391 semapv:UnspecifiedMatching -DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref MESH:D009901 semapv:UnspecifiedMatching +DOID:14550 root resorption oboInOwl:hasDbXref UMLS_CUI:C0035851 semapv:UnspecifiedMatching DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref UMLS_CUI:C0152112 semapv:UnspecifiedMatching -DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref ICD10CM:H47.14 semapv:UnspecifiedMatching +DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref MESH:D009901 semapv:UnspecifiedMatching DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref ICD9CM:377.04 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ORDO:422 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref UMLS_CUI:C0152171 semapv:UnspecifiedMatching +DOID:14555 Foster-Kennedy syndrome oboInOwl:hasDbXref ICD10CM:H47.14 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD10CM:I27.0 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD9CM:416.0 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:265400 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615342 semapv:UnspecifiedMatching DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615343 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:265400 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:178600 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD9CM:416.0 semapv:UnspecifiedMatching -DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ICD10CM:I27.0 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref OMIM:615344 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref ORDO:422 semapv:UnspecifiedMatching +DOID:14557 primary pulmonary hypertension oboInOwl:hasDbXref UMLS_CUI:C0152171 semapv:UnspecifiedMatching DOID:14559 anaerobic meningitis oboInOwl:hasDbXref ICD9CM:320.81 semapv:UnspecifiedMatching DOID:14559 anaerobic meningitis oboInOwl:hasDbXref UMLS_CUI:C0375197 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref UMLS_CUI:C0017675 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref NCI:C112199 semapv:UnspecifiedMatching -DOID:1456 glossitis oboInOwl:hasDbXref MESH:D005928 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref ICD9CM:529.0 semapv:UnspecifiedMatching DOID:1456 glossitis oboInOwl:hasDbXref ICD10CM:K14.0 semapv:UnspecifiedMatching +DOID:1456 glossitis oboInOwl:hasDbXref MESH:D005928 semapv:UnspecifiedMatching DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref ICD10CM:E89.0 semapv:UnspecifiedMatching DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref ICD9CM:244.0 semapv:UnspecifiedMatching DOID:1458 postsurgical hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0154157 semapv:UnspecifiedMatching -DOID:1459 hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0020676 semapv:UnspecifiedMatching -DOID:1459 hypothyroidism oboInOwl:hasDbXref NCI:C26800 semapv:UnspecifiedMatching -DOID:1459 hypothyroidism oboInOwl:hasDbXref MESH:D007037 semapv:UnspecifiedMatching -DOID:1459 hypothyroidism oboInOwl:hasDbXref ICD10CM:E03.9 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref EFO:0004705 semapv:UnspecifiedMatching +DOID:1459 hypothyroidism oboInOwl:hasDbXref ICD10CM:E03.9 semapv:UnspecifiedMatching DOID:1459 hypothyroidism oboInOwl:hasDbXref ICD9CM:244.9 semapv:UnspecifiedMatching -DOID:146 papilledema oboInOwl:hasDbXref GARD:7318 semapv:UnspecifiedMatching -DOID:146 papilledema oboInOwl:hasDbXref ICD10CM:H47.1 semapv:UnspecifiedMatching -DOID:146 papilledema oboInOwl:hasDbXref ICD9CM:377.0 semapv:UnspecifiedMatching -DOID:146 papilledema oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching +DOID:1459 hypothyroidism oboInOwl:hasDbXref MESH:D007037 semapv:UnspecifiedMatching +DOID:1459 hypothyroidism oboInOwl:hasDbXref NCI:C26800 semapv:UnspecifiedMatching +DOID:1459 hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0020676 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref NCI:C3307 semapv:UnspecifiedMatching +DOID:146 papilledema oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching DOID:146 papilledema oboInOwl:hasDbXref UMLS_CUI:C0030353 semapv:UnspecifiedMatching +DOID:146 papilledema oboInOwl:hasDbXref ICD10CM:H47.1 semapv:UnspecifiedMatching +DOID:146 papilledema oboInOwl:hasDbXref GARD:7318 semapv:UnspecifiedMatching +DOID:146 papilledema oboInOwl:hasDbXref ICD9CM:377.0 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref ICD10CM:I75 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref ICD9CM:445 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref MESH:D017700 semapv:UnspecifiedMatching DOID:1461 cholesterol embolism oboInOwl:hasDbXref UMLS_CUI:C0149649 semapv:UnspecifiedMatching -DOID:14654 prostatitis oboInOwl:hasDbXref UMLS_CUI:C0033581 semapv:UnspecifiedMatching -DOID:14654 prostatitis oboInOwl:hasDbXref NCI:C26866 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref ICD10CM:N41.9 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref ICD9CM:601.9 semapv:UnspecifiedMatching DOID:14654 prostatitis oboInOwl:hasDbXref MESH:D011472 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:2015 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:5724 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching +DOID:14654 prostatitis oboInOwl:hasDbXref NCI:C26866 semapv:UnspecifiedMatching +DOID:14654 prostatitis oboInOwl:hasDbXref UMLS_CUI:C0033581 semapv:UnspecifiedMatching +DOID:14669 acrodysostosis oboInOwl:hasDbXref UMLS_CUI:C0220659 semapv:UnspecifiedMatching +DOID:14669 acrodysostosis oboInOwl:hasDbXref ORDO:950 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref OMIM:101800 semapv:UnspecifiedMatching DOID:14669 acrodysostosis oboInOwl:hasDbXref OMIM:614613 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref ORDO:950 semapv:UnspecifiedMatching -DOID:14669 acrodysostosis oboInOwl:hasDbXref UMLS_CUI:C0220659 semapv:UnspecifiedMatching +DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:5724 semapv:UnspecifiedMatching +DOID:14669 acrodysostosis oboInOwl:hasDbXref GARD:2015 semapv:UnspecifiedMatching +DOID:14669 acrodysostosis oboInOwl:hasDbXref MESH:C538179 semapv:UnspecifiedMatching DOID:1467 serous labyrinthitis oboInOwl:hasDbXref ICD9CM:386.31 semapv:UnspecifiedMatching DOID:1467 serous labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0155504 semapv:UnspecifiedMatching -DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref UMLS_CUI:C0220742 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref ORDO:2213 semapv:UnspecifiedMatching +DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref UMLS_CUI:C0220742 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref MESH:C537632 semapv:UnspecifiedMatching DOID:14670 hypertelorism, microtia, facial clefting syndrome oboInOwl:hasDbXref OMIM:239800 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref GARD:3013 semapv:UnspecifiedMatching @@ -18799,191 +18826,192 @@ DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref MESH:C562441 semapv:Un DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref OMIM:243150 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref ORDO:2300 semapv:UnspecifiedMatching DOID:14671 multiple intestinal atresia oboInOwl:hasDbXref UMLS_CUI:C0220744 semapv:UnspecifiedMatching +DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref UMLS_CUI:C0220708 semapv:UnspecifiedMatching -DOID:14679 VACTERL association oboInOwl:hasDbXref GARD:5443 semapv:UnspecifiedMatching +DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching +DOID:14679 VACTERL association oboInOwl:hasDbXref GARD:5443 semapv:UnspecifiedMatching DOID:14679 VACTERL association oboInOwl:hasDbXref MESH:C536534 semapv:UnspecifiedMatching -DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:192350 semapv:UnspecifiedMatching -DOID:14679 VACTERL association oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching -DOID:1468 labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0022893 semapv:UnspecifiedMatching -DOID:1468 labyrinthitis oboInOwl:hasDbXref MESH:D007762 semapv:UnspecifiedMatching -DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD9CM:386.3 semapv:UnspecifiedMatching DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD10CM:H83.0 semapv:UnspecifiedMatching +DOID:1468 labyrinthitis oboInOwl:hasDbXref ICD9CM:386.3 semapv:UnspecifiedMatching +DOID:1468 labyrinthitis oboInOwl:hasDbXref MESH:D007762 semapv:UnspecifiedMatching +DOID:1468 labyrinthitis oboInOwl:hasDbXref UMLS_CUI:C0022893 semapv:UnspecifiedMatching +DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref UMLS_CUI:C0175693 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref GARD:4870 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref MESH:D056730 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref NCI:C85068 semapv:UnspecifiedMatching DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref OMIM:180860 semapv:UnspecifiedMatching -DOID:14681 Silver-Russell syndrome oboInOwl:hasDbXref UMLS_CUI:C0175693 semapv:UnspecifiedMatching -DOID:14683 Binder syndrome oboInOwl:hasDbXref GARD:6992 semapv:UnspecifiedMatching -DOID:14683 Binder syndrome oboInOwl:hasDbXref MESH:C536036 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref OMIM:155050 semapv:UnspecifiedMatching DOID:14683 Binder syndrome oboInOwl:hasDbXref UMLS_CUI:C0220692 semapv:UnspecifiedMatching -DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS_CUI:C0265341 semapv:UnspecifiedMatching -DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ORDO:782 semapv:UnspecifiedMatching -DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref NCI:C131001 semapv:UnspecifiedMatching -DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10CM:Q13.81 semapv:UnspecifiedMatching +DOID:14683 Binder syndrome oboInOwl:hasDbXref GARD:6992 semapv:UnspecifiedMatching +DOID:14683 Binder syndrome oboInOwl:hasDbXref MESH:C536036 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref GARD:5701 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10CM:Q13.81 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref NCI:C131001 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ORDO:782 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS_CUI:C0265341 semapv:UnspecifiedMatching +DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching +DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref NCI:C156311 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref UMLS_CUI:C0220726 semapv:UnspecifiedMatching -DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref GARD:6275 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref ICD10CM:Q77.5 semapv:UnspecifiedMatching +DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref GARD:6275 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref MESH:C536170 semapv:UnspecifiedMatching -DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref NCI:C156311 semapv:UnspecifiedMatching -DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref OMIM:222600 semapv:UnspecifiedMatching +DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS_CUI:C0175694 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref OMIM:270400 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref NCI:C85071 semapv:UnspecifiedMatching -DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref UMLS_CUI:C0175694 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref ICD10CM:E78.72 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref GARD:5683 semapv:UnspecifiedMatching DOID:14692 Smith-Lemli-Opitz syndrome oboInOwl:hasDbXref MESH:D019082 semapv:UnspecifiedMatching -DOID:14693 Clouston syndrome oboInOwl:hasDbXref UMLS_CUI:C0162361 semapv:UnspecifiedMatching -DOID:14693 Clouston syndrome oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching -DOID:14693 Clouston syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching DOID:14693 Clouston syndrome oboInOwl:hasDbXref GARD:2056 semapv:UnspecifiedMatching +DOID:14693 Clouston syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching +DOID:14693 Clouston syndrome oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching +DOID:14693 Clouston syndrome oboInOwl:hasDbXref UMLS_CUI:C0162361 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref GARD:80 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref MESH:C535880 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref OMIM:243800 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref ORDO:2315 semapv:UnspecifiedMatching DOID:14694 Johanson-Blizzard syndrome oboInOwl:hasDbXref UMLS_CUI:C0175692 semapv:UnspecifiedMatching +DOID:14695 galactokinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268155 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref OMIM:230200 semapv:UnspecifiedMatching +DOID:14695 galactokinase deficiency oboInOwl:hasDbXref NCI:C114767 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref GARD:2422 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref ICD10CM:E74.29 semapv:UnspecifiedMatching DOID:14695 galactokinase deficiency oboInOwl:hasDbXref MESH:D005693 semapv:UnspecifiedMatching -DOID:14695 galactokinase deficiency oboInOwl:hasDbXref NCI:C114767 semapv:UnspecifiedMatching -DOID:14695 galactokinase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268155 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref UMLS_CUI:C0175703 semapv:UnspecifiedMatching -DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ORDO:3320 semapv:UnspecifiedMatching -DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching -DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MESH:C536940 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching +DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref MESH:C536940 semapv:UnspecifiedMatching DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref NCI:C99038 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608520 semapv:UnspecifiedMatching +DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref OMIM:274000 semapv:UnspecifiedMatching +DOID:14699 thrombocytopenia-absent radius syndrome oboInOwl:hasDbXref ORDO:3320 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608691 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref OMIM:608520 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0154409 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref NCI:C34796 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0024517 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD9CM:296.2 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F32 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref EFO:0003761 semapv:UnspecifiedMatching DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD9CM:296.3 semapv:UnspecifiedMatching -DOID:1470 major depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0154409 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F32 semapv:UnspecifiedMatching +DOID:1470 major depressive disorder oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS_CUI:C0268579 semapv:UnspecifiedMatching -DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS_CUI:C2717876 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref OMIM:606054 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref NCI:C85030 semapv:UnspecifiedMatching -DOID:14701 propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:UnspecifiedMatching +DOID:14701 propionic acidemia oboInOwl:hasDbXref UMLS_CUI:C2717876 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref ICD10CM:E71.121 semapv:UnspecifiedMatching DOID:14701 propionic acidemia oboInOwl:hasDbXref GARD:467 semapv:UnspecifiedMatching +DOID:14701 propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref GARD:10147 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MEDDRA:10071135 semapv:UnspecifiedMatching -DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MESH:D019280 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref NCI:C98983 semapv:UnspecifiedMatching DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref UMLS_CUI:C0265234 semapv:UnspecifiedMatching -DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref ORDO:710 semapv:UnspecifiedMatching +DOID:14702 branchiootorenal syndrome oboInOwl:hasDbXref MESH:D019280 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref UMLS_CUI:C0220658 semapv:UnspecifiedMatching -DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching -DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref GARD:7380 semapv:UnspecifiedMatching +DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref ORDO:710 semapv:UnspecifiedMatching DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref NCI:C99100 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref UMLS_CUI:C0220769 semapv:UnspecifiedMatching +DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref GARD:7380 semapv:UnspecifiedMatching +DOID:14705 Pfeiffer syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching +DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:305450 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref ORDO:93932 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref ORDO:323 semapv:UnspecifiedMatching -DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:305450 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300581 semapv:UnspecifiedMatching +DOID:14711 FG syndrome oboInOwl:hasDbXref UMLS_CUI:C0220769 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300406 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300321 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref MESH:C537923 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref GARD:2317 semapv:UnspecifiedMatching DOID:14711 FG syndrome oboInOwl:hasDbXref OMIM:300422 semapv:UnspecifiedMatching -DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:596 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref UMLS_CUI:C0175709 semapv:UnspecifiedMatching -DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:69186 semapv:UnspecifiedMatching -DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:595 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:69189 semapv:UnspecifiedMatching -DOID:14717 centronuclear myopathy oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching +DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:69186 semapv:UnspecifiedMatching +DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:596 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ICD10CM:G71.22 semapv:UnspecifiedMatching -DOID:14717 centronuclear myopathy oboInOwl:hasDbXref GARD:101 semapv:UnspecifiedMatching DOID:14717 centronuclear myopathy oboInOwl:hasDbXref NCI:C84648 semapv:UnspecifiedMatching +DOID:14717 centronuclear myopathy oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching +DOID:14717 centronuclear myopathy oboInOwl:hasDbXref GARD:101 semapv:UnspecifiedMatching +DOID:14717 centronuclear myopathy oboInOwl:hasDbXref ORDO:595 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref MESH:C536194 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref NCI:C125696 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref OMIM:130000 semapv:UnspecifiedMatching DOID:14720 Ehlers-Danlos syndrome classic type 1 oboInOwl:hasDbXref UMLS_CUI:C0268335 semapv:UnspecifiedMatching -DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS_CUI:C1533628 semapv:UnspecifiedMatching -DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref ORDO:134 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref GARD:872 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref MESH:C535818 semapv:UnspecifiedMatching DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref OMIM:203750 semapv:UnspecifiedMatching +DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref ORDO:134 semapv:UnspecifiedMatching +DOID:14723 beta-ketothiolase deficiency oboInOwl:hasDbXref UMLS_CUI:C1533628 semapv:UnspecifiedMatching +DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref UMLS_CUI:C0220693 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref OMIM:156580 semapv:UnspecifiedMatching -DOID:14725 autosomal dominant microcephaly oboInOwl:hasDbXref UMLS_CUI:C0220693 semapv:UnspecifiedMatching -DOID:14731 Weaver syndrome oboInOwl:hasDbXref UMLS_CUI:C0220765 semapv:UnspecifiedMatching -DOID:14731 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref GARD:5545 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref GARD:7878 semapv:UnspecifiedMatching DOID:14731 Weaver syndrome oboInOwl:hasDbXref MESH:C562443 semapv:UnspecifiedMatching +DOID:14731 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching +DOID:14731 Weaver syndrome oboInOwl:hasDbXref UMLS_CUI:C0220765 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref GARD:5979 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref MESH:D054179 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref NCI:C84758 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema oboInOwl:hasDbXref UMLS_CUI:C0019243 semapv:UnspecifiedMatching DOID:14735 hereditary angioedema skos:exactMatch MESH:D054179 semapv:UnspecifiedMatching -DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref GARD:1578 semapv:UnspecifiedMatching -DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching -DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref ORDO:1520 semapv:UnspecifiedMatching DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref UMLS_CUI:C0220767 semapv:UnspecifiedMatching +DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref MESH:C536456 semapv:UnspecifiedMatching +DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref GARD:1578 semapv:UnspecifiedMatching +DOID:14737 craniofrontonasal syndrome oboInOwl:hasDbXref OMIM:304110 semapv:UnspecifiedMatching +DOID:1474 aggressive periodontitis oboInOwl:hasDbXref ICD10CM:K05.2 semapv:UnspecifiedMatching +DOID:1474 aggressive periodontitis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching +DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:170650 semapv:UnspecifiedMatching +DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:608526 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031106 semapv:UnspecifiedMatching DOID:1474 aggressive periodontitis skos:exactMatch MESH:D010520 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:608526 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref OMIM:170650 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching -DOID:1474 aggressive periodontitis oboInOwl:hasDbXref ICD10CM:K05.2 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref MESH:C536820 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref NCI:C75109 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref OMIM:190350 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref ORDO:77258 semapv:UnspecifiedMatching DOID:14743 trichorhinophalangeal syndrome type I oboInOwl:hasDbXref UMLS_CUI:C0432233 semapv:UnspecifiedMatching -DOID:14744 Partington syndrome oboInOwl:hasDbXref GARD:4235 semapv:UnspecifiedMatching +DOID:14744 Partington syndrome oboInOwl:hasDbXref UMLS_CUI:C0220775 semapv:UnspecifiedMatching +DOID:14744 Partington syndrome oboInOwl:hasDbXref ORDO:94083 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref MESH:C562446 semapv:UnspecifiedMatching +DOID:14744 Partington syndrome oboInOwl:hasDbXref GARD:4235 semapv:UnspecifiedMatching DOID:14744 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching -DOID:14744 Partington syndrome oboInOwl:hasDbXref ORDO:94083 semapv:UnspecifiedMatching -DOID:14744 Partington syndrome oboInOwl:hasDbXref UMLS_CUI:C0220775 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref UMLS_CUI:C0175695 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref ORDO:821 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref OMIMPS:117550 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref NCI:C75019 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatching -DOID:14748 Sotos syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching DOID:14748 Sotos syndrome oboInOwl:hasDbXref GARD:10091 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref MESH:D058495 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref NCI:C75019 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref OMIMPS:117550 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref ORDO:821 semapv:UnspecifiedMatching +DOID:14748 Sotos syndrome oboInOwl:hasDbXref UMLS_CUI:C0175695 semapv:UnspecifiedMatching DOID:14749 methylmalonic acidemia oboInOwl:hasDbXref GARD:7033 semapv:UnspecifiedMatching DOID:14749 methylmalonic acidemia oboInOwl:hasDbXref MESH:C537358 semapv:UnspecifiedMatching -DOID:1475 lymphangioma oboInOwl:hasDbXref GARD:9789 semapv:UnspecifiedMatching -DOID:1475 lymphangioma oboInOwl:hasDbXref ICD10CM:D18.1 semapv:UnspecifiedMatching -DOID:1475 lymphangioma oboInOwl:hasDbXref ICD9CM:228.1 semapv:UnspecifiedMatching +DOID:1475 lymphangioma oboInOwl:hasDbXref UMLS_CUI:C0024221 semapv:UnspecifiedMatching +DOID:1475 lymphangioma oboInOwl:hasDbXref NCI:C8965 semapv:UnspecifiedMatching DOID:1475 lymphangioma oboInOwl:hasDbXref ICDO:9170/0 semapv:UnspecifiedMatching DOID:1475 lymphangioma oboInOwl:hasDbXref MESH:D008202 semapv:UnspecifiedMatching -DOID:1475 lymphangioma oboInOwl:hasDbXref NCI:C8965 semapv:UnspecifiedMatching -DOID:1475 lymphangioma oboInOwl:hasDbXref UMLS_CUI:C0024221 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref UMLS_CUI:C0268575 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref NCI:C98964 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 semapv:UnspecifiedMatching -DOID:14753 isovaleric acidemia oboInOwl:hasDbXref ICD10CM:E71.110 semapv:UnspecifiedMatching +DOID:1475 lymphangioma oboInOwl:hasDbXref ICD10CM:D18.1 semapv:UnspecifiedMatching +DOID:1475 lymphangioma oboInOwl:hasDbXref GARD:9789 semapv:UnspecifiedMatching +DOID:1475 lymphangioma oboInOwl:hasDbXref ICD9CM:228.1 semapv:UnspecifiedMatching DOID:14753 isovaleric acidemia oboInOwl:hasDbXref GARD:465 semapv:UnspecifiedMatching +DOID:14753 isovaleric acidemia oboInOwl:hasDbXref ICD10CM:E71.110 semapv:UnspecifiedMatching +DOID:14753 isovaleric acidemia oboInOwl:hasDbXref MESH:C538167 semapv:UnspecifiedMatching +DOID:14753 isovaleric acidemia oboInOwl:hasDbXref NCI:C98964 semapv:UnspecifiedMatching +DOID:14753 isovaleric acidemia oboInOwl:hasDbXref OMIM:243500 semapv:UnspecifiedMatching +DOID:14753 isovaleric acidemia oboInOwl:hasDbXref UMLS_CUI:C0268575 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref GARD:5843 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref MESH:D056807 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref NCI:C84569 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref OMIM:207900 semapv:UnspecifiedMatching DOID:14755 argininosuccinic aciduria oboInOwl:hasDbXref UMLS_CUI:C0268547 semapv:UnspecifiedMatching +DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref ORDO:286 semapv:UnspecifiedMatching +DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref GARD:2082 semapv:UnspecifiedMatching DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref NCI:C125699 semapv:UnspecifiedMatching -DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:130050 semapv:UnspecifiedMatching -DOID:14756 vascular type Ehlers-Danlos syndrome oboInOwl:hasDbXref ORDO:286 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref UMLS_CUI:C0268337 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref NCI:C125698 semapv:UnspecifiedMatching -DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref ICD10CM:Q79.62 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref GARD:2081 semapv:UnspecifiedMatching +DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref ICD10CM:Q79.62 semapv:UnspecifiedMatching DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref MESH:C536196 semapv:UnspecifiedMatching +DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref NCI:C125698 semapv:UnspecifiedMatching +DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref OMIM:130020 semapv:UnspecifiedMatching +DOID:14757 Ehlers-Danlos syndrome hypermobility type oboInOwl:hasDbXref UMLS_CUI:C0268337 semapv:UnspecifiedMatching DOID:14759 autosomal recessive type IV Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS_CUI:C0268340 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref GARD:6550 semapv:UnspecifiedMatching DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref MESH:C537300 semapv:UnspecifiedMatching @@ -18993,62 +19021,62 @@ DOID:14761 Greig cephalopolysyndactyly syndrome oboInOwl:hasDbXref UMLS_CUI:C026 DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching DOID:14762 calcaneonavicular coalition oboInOwl:hasDbXref UMLS_CUI:C0175700 semapv:UnspecifiedMatching DOID:14764 Larsen syndrome oboInOwl:hasDbXref OMIM:150250 semapv:UnspecifiedMatching -DOID:14764 Larsen syndrome oboInOwl:hasDbXref GARD:6860 semapv:UnspecifiedMatching DOID:14764 Larsen syndrome oboInOwl:hasDbXref MESH:C580241 semapv:UnspecifiedMatching +DOID:14764 Larsen syndrome oboInOwl:hasDbXref GARD:6860 semapv:UnspecifiedMatching +DOID:14766 renal agenesis oboInOwl:hasDbXref GARD:9228 semapv:UnspecifiedMatching DOID:14766 renal agenesis oboInOwl:hasDbXref MESH:C563261 semapv:UnspecifiedMatching DOID:14766 renal agenesis oboInOwl:hasDbXref OMIM:191830 semapv:UnspecifiedMatching -DOID:14766 renal agenesis oboInOwl:hasDbXref GARD:9228 semapv:UnspecifiedMatching DOID:14766 renal agenesis oboInOwl:hasDbXref ORDO:93108 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref UMLS_CUI:C0175699 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref ORDO:794 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:180750 semapv:UnspecifiedMatching -DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref NCI:C75034 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref OMIM:101400 semapv:UnspecifiedMatching +DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref NCI:C75034 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref MESH:D000168 semapv:UnspecifiedMatching DOID:14768 Saethre-Chotzen syndrome oboInOwl:hasDbXref GARD:7598 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref NCI:C61245 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref OMIM:250250 semapv:UnspecifiedMatching DOID:14773 cartilage-hair hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0220748 semapv:UnspecifiedMatching +DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0268342 semapv:UnspecifiedMatching +DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref GARD:1019 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref MESH:C536198 semapv:UnspecifiedMatching DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref NCI:C125700 semapv:UnspecifiedMatching -DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref OMIM:229200 semapv:UnspecifiedMatching -DOID:14775 brittle cornea syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C0268342 semapv:UnspecifiedMatching -DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0220669 semapv:UnspecifiedMatching -DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching -DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref GARD:2159 semapv:UnspecifiedMatching +DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref MESH:D020936 semapv:UnspecifiedMatching +DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref ORDO:1949 semapv:UnspecifiedMatching +DOID:14777 benign familial neonatal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0220669 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref MESH:C562419 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching DOID:14778 blepharophimosis, ptosis, and epicanthus inversus syndrome oboInOwl:hasDbXref UMLS_CUI:C0220663 semapv:UnspecifiedMatching +DOID:14780 KBG syndrome oboInOwl:hasDbXref UMLS_CUI:C0220687 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref GARD:82 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref MESH:C537015 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref OMIM:148050 semapv:UnspecifiedMatching DOID:14780 KBG syndrome oboInOwl:hasDbXref ORDO:2332 semapv:UnspecifiedMatching -DOID:14780 KBG syndrome oboInOwl:hasDbXref UMLS_CUI:C0220687 semapv:UnspecifiedMatching +DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref UMLS_CUI:C0028968 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref MESH:D009849 semapv:UnspecifiedMatching DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref NCI:C84947 semapv:UnspecifiedMatching -DOID:14784 olivopontocerebellar atrophy oboInOwl:hasDbXref UMLS_CUI:C0028968 semapv:UnspecifiedMatching +DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref GARD:4987 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref MESH:C535788 semapv:UnspecifiedMatching DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref OMIM:183900 semapv:UnspecifiedMatching -DOID:14789 spondyloepiphyseal dysplasia congenita oboInOwl:hasDbXref GARD:4987 semapv:UnspecifiedMatching +DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref ORDO:65 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref GARD:634 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref MESH:D057130 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref NCI:C129075 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref OMIMPS:204000 semapv:UnspecifiedMatching -DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref ORDO:65 semapv:UnspecifiedMatching DOID:14791 Leber congenital amaurosis oboInOwl:hasDbXref UMLS_CUI:C0339527 semapv:UnspecifiedMatching -DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref GARD:76 semapv:UnspecifiedMatching -DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching -DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref ORDO:238468 semapv:UnspecifiedMatching +DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref NCI:C84562 semapv:UnspecifiedMatching DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0162359 semapv:UnspecifiedMatching -DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MEDDRA:10059589 semapv:UnspecifiedMatching +DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref GARD:76 semapv:UnspecifiedMatching +DOID:14793 hypohidrotic ectodermal dysplasia oboInOwl:hasDbXref MESH:D053358 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref UMLS_CUI:C0175691 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref OMIM:223370 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref NCI:C125591 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching +DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MEDDRA:10059589 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref GARD:6290 semapv:UnspecifiedMatching DOID:14796 Dubowitz syndrome oboInOwl:hasDbXref MESH:C535718 semapv:UnspecifiedMatching DOID:14798 Blount's disease oboInOwl:hasDbXref GARD:916 semapv:UnspecifiedMatching @@ -19061,40 +19089,40 @@ DOID:1483 gingival disease oboInOwl:hasDbXref NCI:C173795 semapv:UnspecifiedMatc DOID:1485 cystic fibrosis oboInOwl:hasDbXref UMLS_CUI:C0010674 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref ORDO:586 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis skos:exactMatch MESH:D003550 semapv:UnspecifiedMatching -DOID:1485 cystic fibrosis oboInOwl:hasDbXref NCI:C2975 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref OMIM:219700 semapv:UnspecifiedMatching +DOID:1485 cystic fibrosis oboInOwl:hasDbXref GARD:6233 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref MESH:D003550 semapv:UnspecifiedMatching -DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD9CM:277.0 semapv:UnspecifiedMatching DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD10CM:E84 semapv:UnspecifiedMatching -DOID:1485 cystic fibrosis oboInOwl:hasDbXref GARD:6233 semapv:UnspecifiedMatching +DOID:1485 cystic fibrosis oboInOwl:hasDbXref NCI:C2975 semapv:UnspecifiedMatching +DOID:1485 cystic fibrosis oboInOwl:hasDbXref ICD9CM:277.0 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref ICD10CM:H35.00 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref ICD9CM:362.10 semapv:UnspecifiedMatching DOID:1492 obsolete eye and adnexa disease oboInOwl:hasDbXref UMLS_CUI:C0004608 semapv:UnspecifiedMatching DOID:1495 cystic echinococcosis oboInOwl:hasDbXref ICD10CM:B67.4 semapv:UnspecifiedMatching DOID:1495 cystic echinococcosis oboInOwl:hasDbXref ICD9CM:122.4 semapv:UnspecifiedMatching DOID:1495 cystic echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0152068 semapv:UnspecifiedMatching -DOID:1496 echinococcosis oboInOwl:hasDbXref NCI:C84682 semapv:UnspecifiedMatching -DOID:1496 echinococcosis oboInOwl:hasDbXref MESH:D004443 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref UMLS_CUI:C0013502 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref ICD10CM:B67 semapv:UnspecifiedMatching DOID:1496 echinococcosis oboInOwl:hasDbXref ICD9CM:122 semapv:UnspecifiedMatching +DOID:1496 echinococcosis oboInOwl:hasDbXref MESH:D004443 semapv:UnspecifiedMatching +DOID:1496 echinococcosis oboInOwl:hasDbXref NCI:C84682 semapv:UnspecifiedMatching +DOID:1498 cholera skos:exactMatch MESH:D002771 semapv:UnspecifiedMatching +DOID:1498 cholera oboInOwl:hasDbXref UMLS_CUI:C0008354 semapv:UnspecifiedMatching +DOID:1498 cholera oboInOwl:hasDbXref MESH:D002771 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref GARD:6043 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref ICD10CM:A00 semapv:UnspecifiedMatching DOID:1498 cholera oboInOwl:hasDbXref ICD9CM:001 semapv:UnspecifiedMatching -DOID:1498 cholera oboInOwl:hasDbXref MESH:D002771 semapv:UnspecifiedMatching -DOID:1498 cholera oboInOwl:hasDbXref UMLS_CUI:C0008354 semapv:UnspecifiedMatching -DOID:1498 cholera skos:exactMatch MESH:D002771 semapv:UnspecifiedMatching DOID:15 reproductive system disease oboInOwl:hasDbXref NCI:C27613 semapv:UnspecifiedMatching DOID:15 reproductive system disease oboInOwl:hasDbXref UMLS_CUI:C1335037 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref ICD10CM:F99 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref MESH:D001523 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref NCI:C2893 semapv:UnspecifiedMatching DOID:150 disease of mental health oboInOwl:hasDbXref UMLS_CUI:C0004936 semapv:UnspecifiedMatching -DOID:1508 candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006840 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref NCI:C26711 semapv:UnspecifiedMatching +DOID:1508 candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006840 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref MESH:D002177 semapv:UnspecifiedMatching -DOID:1508 candidiasis oboInOwl:hasDbXref ICD9CM:112 semapv:UnspecifiedMatching DOID:1508 candidiasis oboInOwl:hasDbXref ICD10CM:B37 semapv:UnspecifiedMatching +DOID:1508 candidiasis oboInOwl:hasDbXref ICD9CM:112 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref ICD10CM:F60.6 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref ICD9CM:301.82 semapv:UnspecifiedMatching DOID:1509 avoidant personality disorder oboInOwl:hasDbXref MESH:D010554 semapv:UnspecifiedMatching @@ -19120,13 +19148,13 @@ DOID:1521 cecum cancer oboInOwl:hasDbXref ICD9CM:153.4 semapv:UnspecifiedMatchin DOID:1521 cecum cancer oboInOwl:hasDbXref MESH:D002430 semapv:UnspecifiedMatching DOID:1521 cecum cancer oboInOwl:hasDbXref NCI:C9329 semapv:UnspecifiedMatching DOID:1521 cecum cancer oboInOwl:hasDbXref UMLS_CUI:C0153437 semapv:UnspecifiedMatching -DOID:1522 cecum lymphoma oboInOwl:hasDbXref NCI:C5515 semapv:UnspecifiedMatching DOID:1522 cecum lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332867 semapv:UnspecifiedMatching -DOID:1523 colon lymphoma oboInOwl:hasDbXref NCI:C4793 semapv:UnspecifiedMatching +DOID:1522 cecum lymphoma oboInOwl:hasDbXref NCI:C5515 semapv:UnspecifiedMatching DOID:1523 colon lymphoma oboInOwl:hasDbXref UMLS_CUI:C0519037 semapv:UnspecifiedMatching -DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref UMLS_CUI:C0030328 semapv:UnspecifiedMatching -DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref MESH:D010201 semapv:UnspecifiedMatching +DOID:1523 colon lymphoma oboInOwl:hasDbXref NCI:C4793 semapv:UnspecifiedMatching DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref ICD10CM:M35.6 semapv:UnspecifiedMatching +DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref MESH:D010201 semapv:UnspecifiedMatching +DOID:1525 nodular nonsuppurative panniculitis oboInOwl:hasDbXref UMLS_CUI:C0030328 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref ICD10CM:M79.3 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref ICD9CM:729.30 semapv:UnspecifiedMatching DOID:1526 panniculitis oboInOwl:hasDbXref MESH:D015434 semapv:UnspecifiedMatching @@ -19139,29 +19167,29 @@ DOID:1532 pleural disease oboInOwl:hasDbXref MESH:D010995 semapv:UnspecifiedMatc DOID:1532 pleural disease oboInOwl:hasDbXref NCI:C26859 semapv:UnspecifiedMatching DOID:1532 pleural disease oboInOwl:hasDbXref UMLS_CUI:C0032226 semapv:UnspecifiedMatching DOID:154 mixed cell type cancer oboInOwl:hasDbXref UMLS_CUI:C1368354 semapv:UnspecifiedMatching +DOID:154 mixed cell type cancer oboInOwl:hasDbXref NCI:C6930 semapv:UnspecifiedMatching DOID:154 mixed cell type cancer oboInOwl:hasDbXref UMLS_CUI:C0206625 semapv:UnspecifiedMatching -DOID:154 mixed cell type cancer oboInOwl:hasDbXref NCI:C3729 semapv:UnspecifiedMatching DOID:154 mixed cell type cancer oboInOwl:hasDbXref MESH:D018198 semapv:UnspecifiedMatching -DOID:154 mixed cell type cancer oboInOwl:hasDbXref NCI:C6930 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0687150 semapv:UnspecifiedMatching +DOID:154 mixed cell type cancer oboInOwl:hasDbXref NCI:C3729 semapv:UnspecifiedMatching +DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C9322 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref GARD:7329 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref ICD10CM:C75.0 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref ICD9CM:194.1 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref MESH:D010282 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C3313 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C4906 semapv:UnspecifiedMatching -DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref NCI:C9322 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref OMIM:608266 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0030521 semapv:UnspecifiedMatching DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153653 semapv:UnspecifiedMatching -DOID:1542 head and neck carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334927 semapv:UnspecifiedMatching +DOID:1540 parathyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0687150 semapv:UnspecifiedMatching DOID:1542 head and neck carcinoma oboInOwl:hasDbXref NCI:C6077 semapv:UnspecifiedMatching +DOID:1542 head and neck carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334927 semapv:UnspecifiedMatching +DOID:1554 vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching +DOID:1554 vibratory urticaria oboInOwl:hasDbXref UMLS_CUI:C0157743 semapv:UnspecifiedMatching +DOID:1554 vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref GARD:9806 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref ICD10CM:L50.4 semapv:UnspecifiedMatching DOID:1554 vibratory urticaria oboInOwl:hasDbXref ICD9CM:708.4 semapv:UnspecifiedMatching -DOID:1554 vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching -DOID:1554 vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching -DOID:1554 vibratory urticaria oboInOwl:hasDbXref UMLS_CUI:C0157743 semapv:UnspecifiedMatching DOID:1555 urticaria oboInOwl:hasDbXref ICD9CM:708.8 semapv:UnspecifiedMatching DOID:1555 urticaria oboInOwl:hasDbXref UMLS_CUI:C0029839 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref ICD10CM:T78.41 semapv:UnspecifiedMatching @@ -19169,29 +19197,29 @@ DOID:1556 arthus reaction oboInOwl:hasDbXref ICD9CM:995.21 semapv:UnspecifiedMat DOID:1556 arthus reaction oboInOwl:hasDbXref MESH:D001183 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref NCI:C34400 semapv:UnspecifiedMatching DOID:1556 arthus reaction oboInOwl:hasDbXref UMLS_CUI:C0003907 semapv:UnspecifiedMatching -DOID:1557 hypersensitivity reaction type III disease oboInOwl:hasDbXref UMLS_CUI:C0020951 semapv:UnspecifiedMatching DOID:1557 hypersensitivity reaction type III disease oboInOwl:hasDbXref MESH:D007105 semapv:UnspecifiedMatching -DOID:1558 angioedema oboInOwl:hasDbXref ICD10CM:T78.3 semapv:UnspecifiedMatching -DOID:1558 angioedema oboInOwl:hasDbXref MESH:D000799 semapv:UnspecifiedMatching +DOID:1557 hypersensitivity reaction type III disease oboInOwl:hasDbXref UMLS_CUI:C0020951 semapv:UnspecifiedMatching DOID:1558 angioedema oboInOwl:hasDbXref NCI:C112175 semapv:UnspecifiedMatching DOID:1558 angioedema oboInOwl:hasDbXref UMLS_CUI:C0002994 semapv:UnspecifiedMatching +DOID:1558 angioedema oboInOwl:hasDbXref ICD10CM:T78.3 semapv:UnspecifiedMatching +DOID:1558 angioedema oboInOwl:hasDbXref MESH:D000799 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref ICD10CM:F09 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref MESH:D019965 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref NCI:C34870 semapv:UnspecifiedMatching DOID:1561 cognitive disorder oboInOwl:hasDbXref UMLS_CUI:C0029227 semapv:UnspecifiedMatching -DOID:1562 chromoblastomycosis oboInOwl:hasDbXref UMLS_CUI:C0008582 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref GARD:1319 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref ICD10CM:B43.9 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref ICD9CM:117.2 semapv:UnspecifiedMatching DOID:1562 chromoblastomycosis oboInOwl:hasDbXref MESH:D002862 semapv:UnspecifiedMatching +DOID:1562 chromoblastomycosis oboInOwl:hasDbXref UMLS_CUI:C0008582 semapv:UnspecifiedMatching +DOID:1563 dermatomycosis oboInOwl:hasDbXref ICD9CM:111.9 semapv:UnspecifiedMatching DOID:1563 dermatomycosis oboInOwl:hasDbXref MESH:D003881 semapv:UnspecifiedMatching DOID:1563 dermatomycosis oboInOwl:hasDbXref UMLS_CUI:C0011630 semapv:UnspecifiedMatching -DOID:1563 dermatomycosis oboInOwl:hasDbXref ICD9CM:111.9 semapv:UnspecifiedMatching +DOID:1564 fungal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0026946 semapv:UnspecifiedMatching +DOID:1564 fungal infectious disease oboInOwl:hasDbXref NCI:C3245 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref ICD10CM:B49 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref ICD9CM:110-118.99 semapv:UnspecifiedMatching DOID:1564 fungal infectious disease oboInOwl:hasDbXref MESH:D009181 semapv:UnspecifiedMatching -DOID:1564 fungal infectious disease oboInOwl:hasDbXref NCI:C3245 semapv:UnspecifiedMatching -DOID:1564 fungal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0026946 semapv:UnspecifiedMatching DOID:1569 mechanical ectropion oboInOwl:hasDbXref ICD9CM:374.12 semapv:UnspecifiedMatching DOID:1569 mechanical ectropion oboInOwl:hasDbXref UMLS_CUI:C0155194 semapv:UnspecifiedMatching DOID:1570 ectropion oboInOwl:hasDbXref ICD10CM:H02.1 semapv:UnspecifiedMatching @@ -19200,15 +19228,15 @@ DOID:1570 ectropion oboInOwl:hasDbXref MESH:D004483 semapv:UnspecifiedMatching DOID:1570 ectropion oboInOwl:hasDbXref UMLS_CUI:C0013592 semapv:UnspecifiedMatching DOID:1571 spastic ectropion oboInOwl:hasDbXref ICD9CM:374.13 semapv:UnspecifiedMatching DOID:1571 spastic ectropion oboInOwl:hasDbXref UMLS_CUI:C0155195 semapv:UnspecifiedMatching -DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0020258 semapv:UnspecifiedMatching -DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref OMIM:236690 semapv:UnspecifiedMatching -DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref MESH:D006850 semapv:UnspecifiedMatching DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.2 semapv:UnspecifiedMatching -DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.0 semapv:UnspecifiedMatching +DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref MESH:D006850 semapv:UnspecifiedMatching +DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref OMIM:236690 semapv:UnspecifiedMatching +DOID:1572 normal pressure hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0020258 semapv:UnspecifiedMatching +DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0009451 semapv:UnspecifiedMatching +DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref NCI:C34501 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD9CM:331.3 semapv:UnspecifiedMatching DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref MESH:D006849 semapv:UnspecifiedMatching -DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref NCI:C34501 semapv:UnspecifiedMatching -DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref UMLS_CUI:C0009451 semapv:UnspecifiedMatching +DOID:1573 communicating hydrocephalus oboInOwl:hasDbXref ICD10CM:G91.0 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref ICD10CM:F10.1 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref ICD9CM:305.0 semapv:UnspecifiedMatching DOID:1574 alcohol use disorder oboInOwl:hasDbXref MESH:D000437 semapv:UnspecifiedMatching @@ -19219,70 +19247,73 @@ DOID:1577 limited scleroderma oboInOwl:hasDbXref UMLS_CUI:C0748540 semapv:Unspec DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref UMLS_CUI:C0339904 semapv:UnspecifiedMatching DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref ICD10CM:M34.81 semapv:UnspecifiedMatching DOID:1578 pulmonary systemic sclerosis oboInOwl:hasDbXref ICD9CM:517.2 semapv:UnspecifiedMatching -DOID:1579 respiratory system disease oboInOwl:hasDbXref ICD10CM:J98 semapv:UnspecifiedMatching -DOID:1579 respiratory system disease oboInOwl:hasDbXref ICD9CM:519 semapv:UnspecifiedMatching DOID:1579 respiratory system disease oboInOwl:hasDbXref UMLS_CUI:C0029582 semapv:UnspecifiedMatching +DOID:1579 respiratory system disease oboInOwl:hasDbXref ICD9CM:519 semapv:UnspecifiedMatching +DOID:1579 respiratory system disease oboInOwl:hasDbXref ICD10CM:J98 semapv:UnspecifiedMatching DOID:1580 diffuse scleroderma oboInOwl:hasDbXref MESH:D045743 semapv:UnspecifiedMatching DOID:1580 diffuse scleroderma oboInOwl:hasDbXref NCI:C116791 semapv:UnspecifiedMatching DOID:1580 diffuse scleroderma oboInOwl:hasDbXref UMLS_CUI:C1258104 semapv:UnspecifiedMatching -DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref NCI:C26895 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref ICD10CM:A15.5 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref ICD9CM:012.3 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref MESH:D014387 semapv:UnspecifiedMatching +DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref NCI:C26895 semapv:UnspecifiedMatching DOID:1583 laryngeal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041315 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome skos:exactMatch MESH:D056586 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome oboInOwl:hasDbXref UMLS_CUI:C0742343 semapv:UnspecifiedMatching -DOID:1584 acute chest syndrome oboInOwl:hasDbXref MESH:D056586 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome oboInOwl:hasDbXref ICD9CM:517.3 semapv:UnspecifiedMatching +DOID:1584 acute chest syndrome oboInOwl:hasDbXref MESH:D056586 semapv:UnspecifiedMatching DOID:1584 acute chest syndrome oboInOwl:hasDbXref NCI:C138179 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref MESH:D012213 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS_CUI:C0035436 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref NCI:C34984 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD9CM:390-392.99 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever skos:exactMatch MESH:D012213 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS_CUI:C0264743 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD10CM:I00-I02 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref NCI:C34984 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref UMLS_CUI:C0035436 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref MESH:D012213 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD10CM:I00 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever oboInOwl:hasDbXref GARD:5699 semapv:UnspecifiedMatching DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD9CM:390 semapv:UnspecifiedMatching -DOID:1586 rheumatic fever skos:exactMatch MESH:D012213 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD10CM:I00-I02 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref GARD:5699 semapv:UnspecifiedMatching +DOID:1586 rheumatic fever oboInOwl:hasDbXref ICD9CM:390-392.99 semapv:UnspecifiedMatching DOID:1587 thrombocytopenia due to platelet alloimmunization oboInOwl:hasDbXref UMLS_CUI:C0272286 semapv:UnspecifiedMatching DOID:1587 thrombocytopenia due to platelet alloimmunization oboInOwl:hasDbXref NCI:C3991 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:612004 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0040034 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatching +DOID:1588 thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0040034 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ORDO:852 semapv:UnspecifiedMatching +DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:300367 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:188000 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref MESH:D013921 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.5 semapv:UnspecifiedMatching -DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching DOID:1588 thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.6 semapv:UnspecifiedMatching +DOID:1588 thrombocytopenia oboInOwl:hasDbXref OMIM:273900 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref ICD10CM:I15.0 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref MESH:D006978 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref NCI:C85044 semapv:UnspecifiedMatching DOID:1591 renovascular hypertension oboInOwl:hasDbXref UMLS_CUI:C0020545 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref UMLS_CUI:C0041696 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref UMLS_CUI:C0011573 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref OMIM:608516 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref NCI:C35094 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref NCI:C34532 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching -DOID:1595 endogenous depression oboInOwl:hasDbXref EFO:0003761 semapv:UnspecifiedMatching -DOID:1596 mental depression oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching -DOID:1596 mental depression oboInOwl:hasDbXref MESH:D003863 semapv:UnspecifiedMatching -DOID:1596 mental depression oboInOwl:hasDbXref NCI:C2982 semapv:UnspecifiedMatching -DOID:1596 mental depression oboInOwl:hasDbXref UMLS_CUI:C0011570 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0157705 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS_CUI:C0041696 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref UMLS_CUI:C0011573 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref OMIM:608516 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref NCI:C34532 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching +DOID:1595 melancholic depression oboInOwl:hasDbXref NCI:C34812 semapv:UnspecifiedMatching +DOID:1596 depressive disorder skos:exactMatch SNOMEDCT_US_2023_02_28:35489007 semapv:UnspecifiedMatching +DOID:1596 depressive disorder oboInOwl:hasDbXref ICD10CM:F33.9 semapv:UnspecifiedMatching +DOID:1596 depressive disorder oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching +DOID:1596 depressive disorder oboInOwl:hasDbXref NCI:C2982 semapv:UnspecifiedMatching +DOID:1596 depressive disorder oboInOwl:hasDbXref UMLS_CUI:C0011570 semapv:UnspecifiedMatching +DOID:1596 depressive disorder skos:closeMatch UMLS_CUI:C0011570 semapv:UnspecifiedMatching +DOID:1596 depressive disorder skos:exactMatch MESH:D003866 semapv:UnspecifiedMatching +DOID:1596 depressive disorder skos:exactMatch NCI:C2982 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0154304 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0024205 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26978 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26966 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0157705 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26821 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0154304 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref NCI:C26978 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD9CM:683 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD9CM:289.1 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD10CM:L04 semapv:UnspecifiedMatching -DOID:1602 lymphadenitis oboInOwl:hasDbXref MESH:D008199 semapv:UnspecifiedMatching DOID:1602 lymphadenitis oboInOwl:hasDbXref ICD10CM:I88.1 semapv:UnspecifiedMatching +DOID:1602 lymphadenitis oboInOwl:hasDbXref MESH:D008199 semapv:UnspecifiedMatching DOID:1607 hypoglycemic coma oboInOwl:hasDbXref ICD10CM:E15 semapv:UnspecifiedMatching DOID:1607 hypoglycemic coma oboInOwl:hasDbXref ICD9CM:251.0 semapv:UnspecifiedMatching DOID:1607 hypoglycemic coma oboInOwl:hasDbXref NCI:C181765 semapv:UnspecifiedMatching @@ -19290,9 +19321,9 @@ DOID:1607 hypoglycemic coma oboInOwl:hasDbXref UMLS_CUI:C0020617 semapv:Unspecif DOID:161 keratosis oboInOwl:hasDbXref MESH:D007642 semapv:UnspecifiedMatching DOID:161 keratosis oboInOwl:hasDbXref NCI:C34747 semapv:UnspecifiedMatching DOID:161 keratosis oboInOwl:hasDbXref UMLS_CUI:C0022593 semapv:UnspecifiedMatching -DOID:1612 breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching -DOID:1612 breast cancer oboInOwl:hasDbXref NCI:C9335 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref UMLS_CUI:C0006142 semapv:UnspecifiedMatching +DOID:1612 breast cancer oboInOwl:hasDbXref NCI:C9335 semapv:UnspecifiedMatching +DOID:1612 breast cancer oboInOwl:hasDbXref OMIM:114480 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref ICD10CM:C50 semapv:UnspecifiedMatching DOID:1612 breast cancer oboInOwl:hasDbXref MESH:D001943 semapv:UnspecifiedMatching DOID:1614 male breast cancer oboInOwl:hasDbXref GARD:9312 semapv:UnspecifiedMatching @@ -19300,21 +19331,21 @@ DOID:1614 male breast cancer oboInOwl:hasDbXref MESH:D018567 semapv:UnspecifiedM DOID:1614 male breast cancer oboInOwl:hasDbXref UMLS_CUI:C0242788 semapv:UnspecifiedMatching DOID:1616 benign eccrine breast spiradenoma oboInOwl:hasDbXref NCI:C5193 semapv:UnspecifiedMatching DOID:1616 benign eccrine breast spiradenoma oboInOwl:hasDbXref UMLS_CUI:C1332492 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C1333137 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0346158 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0206650 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0178421 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref ICD10CM:D24 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref MESH:D018226 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C4276 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C3744 semapv:UnspecifiedMatching -DOID:1618 breast fibroadenoma oboInOwl:hasDbXref ICD10CM:D24 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C4276 semapv:UnspecifiedMatching DOID:1618 breast fibroadenoma oboInOwl:hasDbXref NCI:C5194 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0178421 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0206650 semapv:UnspecifiedMatching +DOID:1618 breast fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C1333137 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref NCI:C9305 semapv:UnspecifiedMatching -DOID:162 cancer oboInOwl:hasDbXref MESH:D009369 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref UMLS_CUI:C0006826 semapv:UnspecifiedMatching +DOID:162 cancer oboInOwl:hasDbXref MESH:D009369 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref ICD9CM:199 semapv:UnspecifiedMatching -DOID:162 cancer oboInOwl:hasDbXref ICDO:8000/3 semapv:UnspecifiedMatching DOID:162 cancer oboInOwl:hasDbXref ICD10CM:C80.1 semapv:UnspecifiedMatching +DOID:162 cancer oboInOwl:hasDbXref ICDO:8000/3 semapv:UnspecifiedMatching DOID:1623 breast leiomyoma oboInOwl:hasDbXref NCI:C40399 semapv:UnspecifiedMatching DOID:1623 breast leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1511317 semapv:UnspecifiedMatching DOID:1625 breast adenoma oboInOwl:hasDbXref NCI:C40382 semapv:UnspecifiedMatching @@ -19325,8 +19356,8 @@ DOID:1627 intraductal papilloma oboInOwl:hasDbXref ICDO:8503/0 semapv:Unspecifie DOID:1627 intraductal papilloma oboInOwl:hasDbXref MESH:D018300 semapv:UnspecifiedMatching DOID:1627 intraductal papilloma oboInOwl:hasDbXref NCI:C3785 semapv:UnspecifiedMatching DOID:1627 intraductal papilloma oboInOwl:hasDbXref UMLS_CUI:C0206713 semapv:UnspecifiedMatching -DOID:1628 intraductal papillary breast neoplasm oboInOwl:hasDbXref NCI:C36090 semapv:UnspecifiedMatching DOID:1628 intraductal papillary breast neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334252 semapv:UnspecifiedMatching +DOID:1628 intraductal papillary breast neoplasm oboInOwl:hasDbXref NCI:C36090 semapv:UnspecifiedMatching DOID:1629 breast myofibroblastoma oboInOwl:hasDbXref UMLS_CUI:C1511320 semapv:UnspecifiedMatching DOID:1629 breast myofibroblastoma oboInOwl:hasDbXref NCI:C40397 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref ICD10CM:D48.6 semapv:UnspecifiedMatching @@ -19337,11 +19368,11 @@ DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref NCI:C5196 semapv:Unsp DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0010701 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0334501 semapv:UnspecifiedMatching DOID:1631 benign breast phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1332533 semapv:UnspecifiedMatching -DOID:1637 breast angiomatosis oboInOwl:hasDbXref NCI:C40381 semapv:UnspecifiedMatching DOID:1637 breast angiomatosis oboInOwl:hasDbXref UMLS_CUI:C1511284 semapv:UnspecifiedMatching -DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref ICD9CM:013.2 semapv:UnspecifiedMatching +DOID:1637 breast angiomatosis oboInOwl:hasDbXref NCI:C40381 semapv:UnspecifiedMatching DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref MESH:D016862 semapv:UnspecifiedMatching DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0085388 semapv:UnspecifiedMatching +DOID:1638 central nervous system tuberculosis oboInOwl:hasDbXref ICD9CM:013.2 semapv:UnspecifiedMatching DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041324 semapv:UnspecifiedMatching DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref MESH:D014394 semapv:UnspecifiedMatching DOID:1639 skeletal tuberculosis oboInOwl:hasDbXref ICD10CM:A18.0 semapv:UnspecifiedMatching @@ -19354,30 +19385,30 @@ DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1334564 semapv DOID:1642 breast adenomyoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1510795 semapv:UnspecifiedMatching DOID:1647 female breast upper-inner quadrant cancer oboInOwl:hasDbXref ICD9CM:174.2 semapv:UnspecifiedMatching DOID:1647 female breast upper-inner quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153550 semapv:UnspecifiedMatching -DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153551 semapv:UnspecifiedMatching DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref ICD10CM:C50.31 semapv:UnspecifiedMatching DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref ICD9CM:174.3 semapv:UnspecifiedMatching +DOID:1649 female breast lower-inner quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153551 semapv:UnspecifiedMatching +DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref UMLS_CUI:C0153554 semapv:UnspecifiedMatching DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref ICD10CM:C50.61 semapv:UnspecifiedMatching DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref ICD9CM:174.6 semapv:UnspecifiedMatching -DOID:1650 female breast axillary tail cancer oboInOwl:hasDbXref UMLS_CUI:C0153554 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614429 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614432 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614431 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref UMLS_CUI:C0018818 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref NCI:C84506 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ORDO:1480 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614432 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref OMIM:614429 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref GARD:7853 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref MESH:D006345 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ICD9CM:745.4 semapv:UnspecifiedMatching DOID:1657 ventricular septal defect oboInOwl:hasDbXref ICD10CM:Q21.0 semapv:UnspecifiedMatching -DOID:1657 ventricular septal defect oboInOwl:hasDbXref NCI:C84506 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref GARD:7853 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref MESH:D006345 semapv:UnspecifiedMatching +DOID:1657 ventricular septal defect oboInOwl:hasDbXref UMLS_CUI:C0018818 semapv:UnspecifiedMatching +DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0038874 semapv:UnspecifiedMatching +DOID:1659 supratentorial cancer oboInOwl:hasDbXref NCI:C4964 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0751589 semapv:UnspecifiedMatching -DOID:1659 supratentorial cancer oboInOwl:hasDbXref ICD10CM:C71.0 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref MESH:D015173 semapv:UnspecifiedMatching +DOID:1659 supratentorial cancer oboInOwl:hasDbXref ICD10CM:C71.0 semapv:UnspecifiedMatching DOID:1659 supratentorial cancer oboInOwl:hasDbXref NCI:C3397 semapv:UnspecifiedMatching -DOID:1659 supratentorial cancer oboInOwl:hasDbXref NCI:C4964 semapv:UnspecifiedMatching -DOID:1659 supratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0038874 semapv:UnspecifiedMatching -DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref NCI:C3717 semapv:UnspecifiedMatching DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C0206094 semapv:UnspecifiedMatching +DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref NCI:C3717 semapv:UnspecifiedMatching DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref ICDO:9363/0 semapv:UnspecifiedMatching DOID:166 melanotic neuroectodermal tumor oboInOwl:hasDbXref MESH:D017600 semapv:UnspecifiedMatching DOID:1660 malignant pineal area germ cell neoplasm oboInOwl:hasDbXref GARD:12017 semapv:UnspecifiedMatching @@ -19390,135 +19421,135 @@ DOID:1664 pineoblastoma oboInOwl:hasDbXref ICDO:9362/3 semapv:UnspecifiedMatchin DOID:1664 pineoblastoma oboInOwl:hasDbXref MESH:D010871 semapv:UnspecifiedMatching DOID:1664 pineoblastoma oboInOwl:hasDbXref NCI:C9344 semapv:UnspecifiedMatching DOID:1664 pineoblastoma oboInOwl:hasDbXref UMLS_CUI:C0205898 semapv:UnspecifiedMatching -DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref ICD9CM:711.2 semapv:UnspecifiedMatching DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref NCI:C35225 semapv:UnspecifiedMatching DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref UMLS_CUI:C0157770 semapv:UnspecifiedMatching -DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref UMLS_CUI:C0155907 semapv:UnspecifiedMatching -DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref ICD9CM:512.0 semapv:UnspecifiedMatching +DOID:1670 Behcet's syndrome arthropathy oboInOwl:hasDbXref ICD9CM:711.2 semapv:UnspecifiedMatching DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref ICD10CM:J93.0 semapv:UnspecifiedMatching +DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref ICD9CM:512.0 semapv:UnspecifiedMatching +DOID:1672 spontaneous tension pneumothorax oboInOwl:hasDbXref UMLS_CUI:C0155907 semapv:UnspecifiedMatching DOID:1673 pneumothorax oboInOwl:hasDbXref ICD10CM:J93.1 semapv:UnspecifiedMatching DOID:1673 pneumothorax oboInOwl:hasDbXref UMLS_CUI:C0029850 semapv:UnspecifiedMatching DOID:1673 pneumothorax skos:exactMatch MESH:D011030 semapv:UnspecifiedMatching DOID:1677 low implantation of placenta oboInOwl:hasDbXref ICD9CM:641.0 semapv:UnspecifiedMatching DOID:1677 low implantation of placenta oboInOwl:hasDbXref UMLS_CUI:C0156617 semapv:UnspecifiedMatching -DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref UMLS_CUI:C0600040 semapv:UnspecifiedMatching -DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching -DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref ICD9CM:595.1 semapv:UnspecifiedMatching DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref ICD10CM:N30.1 semapv:UnspecifiedMatching -DOID:1679 cystitis oboInOwl:hasDbXref ICD10CM:N30 semapv:UnspecifiedMatching -DOID:1679 cystitis oboInOwl:hasDbXref ICD9CM:595 semapv:UnspecifiedMatching +DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref ICD9CM:595.1 semapv:UnspecifiedMatching +DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref MESH:D018856 semapv:UnspecifiedMatching +DOID:1678 chronic interstitial cystitis oboInOwl:hasDbXref UMLS_CUI:C0600040 semapv:UnspecifiedMatching +DOID:1679 cystitis oboInOwl:hasDbXref UMLS_CUI:C0010692 semapv:UnspecifiedMatching DOID:1679 cystitis oboInOwl:hasDbXref MESH:D003556 semapv:UnspecifiedMatching DOID:1679 cystitis oboInOwl:hasDbXref NCI:C26738 semapv:UnspecifiedMatching -DOID:1679 cystitis oboInOwl:hasDbXref UMLS_CUI:C0010692 semapv:UnspecifiedMatching -DOID:1680 chronic cystitis oboInOwl:hasDbXref UMLS_CUI:C0156268 semapv:UnspecifiedMatching +DOID:1679 cystitis oboInOwl:hasDbXref ICD10CM:N30 semapv:UnspecifiedMatching +DOID:1679 cystitis oboInOwl:hasDbXref ICD9CM:595 semapv:UnspecifiedMatching DOID:1680 chronic cystitis oboInOwl:hasDbXref ICD10CM:N30.2 semapv:UnspecifiedMatching DOID:1680 chronic cystitis oboInOwl:hasDbXref ICD9CM:595.2 semapv:UnspecifiedMatching +DOID:1680 chronic cystitis oboInOwl:hasDbXref UMLS_CUI:C0156268 semapv:UnspecifiedMatching +DOID:1681 heart septal defect oboInOwl:hasDbXref UMLS_CUI:C0018816 semapv:UnspecifiedMatching DOID:1681 heart septal defect oboInOwl:hasDbXref ICD10CM:Q21.9 semapv:UnspecifiedMatching DOID:1681 heart septal defect oboInOwl:hasDbXref MESH:D006343 semapv:UnspecifiedMatching DOID:1681 heart septal defect oboInOwl:hasDbXref NCI:C84482 semapv:UnspecifiedMatching -DOID:1681 heart septal defect oboInOwl:hasDbXref UMLS_CUI:C0018816 semapv:UnspecifiedMatching -DOID:1682 congenital heart disease oboInOwl:hasDbXref ICD10CM:Q24.9 semapv:UnspecifiedMatching -DOID:1682 congenital heart disease oboInOwl:hasDbXref ICD9CM:746.9 semapv:UnspecifiedMatching -DOID:1682 congenital heart disease oboInOwl:hasDbXref MESH:D006330 semapv:UnspecifiedMatching DOID:1682 congenital heart disease oboInOwl:hasDbXref NCI:C34666 semapv:UnspecifiedMatching +DOID:1682 congenital heart disease oboInOwl:hasDbXref MESH:D006330 semapv:UnspecifiedMatching DOID:1682 congenital heart disease oboInOwl:hasDbXref UMLS_CUI:C0018798 semapv:UnspecifiedMatching +DOID:1682 congenital heart disease oboInOwl:hasDbXref ICD10CM:Q24.9 semapv:UnspecifiedMatching +DOID:1682 congenital heart disease oboInOwl:hasDbXref ICD9CM:746.9 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017601 semapv:UnspecifiedMatching -DOID:1686 glaucoma oboInOwl:hasDbXref MESH:D005901 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref NCI:C26782 semapv:UnspecifiedMatching +DOID:1686 glaucoma oboInOwl:hasDbXref MESH:D005901 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref ICD10CM:H40 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref EFO:0000516 semapv:UnspecifiedMatching DOID:1686 glaucoma oboInOwl:hasDbXref ICD9CM:365 semapv:UnspecifiedMatching DOID:1687 neovascular glaucoma oboInOwl:hasDbXref MESH:D015355 semapv:UnspecifiedMatching DOID:1687 neovascular glaucoma oboInOwl:hasDbXref UMLS_CUI:C0017609 semapv:UnspecifiedMatching +DOID:169 neuroendocrine tumor oboInOwl:hasDbXref NCI:C3809 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref ICD10CM:D3A.8 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref ICD9CM:209-209.99 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref ICDO:8240/3 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref MESH:D018358 semapv:UnspecifiedMatching -DOID:169 neuroendocrine tumor oboInOwl:hasDbXref NCI:C3809 semapv:UnspecifiedMatching DOID:169 neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C0206754 semapv:UnspecifiedMatching -DOID:1697 ichthyosis oboInOwl:hasDbXref MESH:D007057 semapv:UnspecifiedMatching DOID:1697 ichthyosis oboInOwl:hasDbXref ORDO:79354 semapv:UnspecifiedMatching -DOID:17 musculoskeletal system disease oboInOwl:hasDbXref NCI:C107377 semapv:UnspecifiedMatching -DOID:17 musculoskeletal system disease oboInOwl:hasDbXref MESH:D009140 semapv:UnspecifiedMatching +DOID:1697 ichthyosis oboInOwl:hasDbXref MESH:D007057 semapv:UnspecifiedMatching DOID:17 musculoskeletal system disease oboInOwl:hasDbXref UMLS_CUI:C0026857 semapv:UnspecifiedMatching -DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153658 semapv:UnspecifiedMatching -DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS_CUI:C0014132 semapv:UnspecifiedMatching -DOID:170 endocrine gland cancer oboInOwl:hasDbXref NCI:C3575 semapv:UnspecifiedMatching +DOID:17 musculoskeletal system disease oboInOwl:hasDbXref MESH:D009140 semapv:UnspecifiedMatching +DOID:17 musculoskeletal system disease oboInOwl:hasDbXref NCI:C107377 semapv:UnspecifiedMatching +DOID:170 endocrine gland cancer oboInOwl:hasDbXref ICD10CM:C75.9 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref ICD9CM:194.9 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref MESH:D004701 semapv:UnspecifiedMatching -DOID:170 endocrine gland cancer oboInOwl:hasDbXref ICD10CM:C75.9 semapv:UnspecifiedMatching DOID:170 endocrine gland cancer oboInOwl:hasDbXref NCI:C3010 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref GARD:7904 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref ICD10CM:Q80.1 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching -DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref NCI:C84779 semapv:UnspecifiedMatching +DOID:170 endocrine gland cancer oboInOwl:hasDbXref NCI:C3575 semapv:UnspecifiedMatching +DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS_CUI:C0014132 semapv:UnspecifiedMatching +DOID:170 endocrine gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153658 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref UMLS_CUI:C0079588 semapv:UnspecifiedMatching +DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref NCI:C84779 semapv:UnspecifiedMatching +DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref ICD10CM:Q80.1 semapv:UnspecifiedMatching +DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref GARD:7904 semapv:UnspecifiedMatching +DOID:1700 X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref MESH:D043202 semapv:UnspecifiedMatching DOID:1701 steroid inherited metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C1257809 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref UMLS_CUI:C0079584 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref OMIM:146700 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref NCI:C84778 semapv:UnspecifiedMatching -DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref MESH:D016112 semapv:UnspecifiedMatching -DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref ICD10CM:Q80.0 semapv:UnspecifiedMatching DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref GARD:6752 semapv:UnspecifiedMatching +DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref ICD10CM:Q80.0 semapv:UnspecifiedMatching +DOID:1702 ichthyosis vulgaris oboInOwl:hasDbXref MESH:D016112 semapv:UnspecifiedMatching +DOID:1703 Richter's syndrome oboInOwl:hasDbXref NCI:C35424 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref GARD:7578 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref ICD10CM:C91.1 semapv:UnspecifiedMatching -DOID:1703 Richter's syndrome oboInOwl:hasDbXref NCI:C35424 semapv:UnspecifiedMatching DOID:1703 Richter's syndrome oboInOwl:hasDbXref UMLS_CUI:C0349631 semapv:UnspecifiedMatching -DOID:171 neuroectodermal tumor oboInOwl:hasDbXref MESH:D017599 semapv:UnspecifiedMatching DOID:171 neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C0206093 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0155567 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0152417 semapv:UnspecifiedMatching +DOID:171 neuroectodermal tumor oboInOwl:hasDbXref MESH:D017599 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis skos:exactMatch MESH:D001024 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0155567 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref NCI:C50462 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref MESH:D001024 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0152417 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0003507 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref MESH:D001024 semapv:UnspecifiedMatching +DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD10CM:I06.0 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD9CM:395.0 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD10CM:Q25.1 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD10CM:Q23.0 semapv:UnspecifiedMatching -DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD10CM:I06.0 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref GARD:5830 semapv:UnspecifiedMatching DOID:1712 aortic valve stenosis oboInOwl:hasDbXref ICD9CM:746.3 semapv:UnspecifiedMatching DOID:1713 benign shuddering attacks oboInOwl:hasDbXref ICD10CM:G25.83 semapv:UnspecifiedMatching DOID:1713 benign shuddering attacks oboInOwl:hasDbXref ICD9CM:333.93 semapv:UnspecifiedMatching DOID:1713 benign shuddering attacks oboInOwl:hasDbXref UMLS_CUI:C0375200 semapv:UnspecifiedMatching +DOID:172 clear cell acanthoma oboInOwl:hasDbXref UMLS_CUI:C0333992 semapv:UnspecifiedMatching +DOID:172 clear cell acanthoma oboInOwl:hasDbXref NCI:C97041 semapv:UnspecifiedMatching DOID:172 clear cell acanthoma oboInOwl:hasDbXref ICDO:8084/0 semapv:UnspecifiedMatching DOID:172 clear cell acanthoma oboInOwl:hasDbXref MESH:D049309 semapv:UnspecifiedMatching -DOID:172 clear cell acanthoma oboInOwl:hasDbXref NCI:C97041 semapv:UnspecifiedMatching -DOID:172 clear cell acanthoma oboInOwl:hasDbXref UMLS_CUI:C0333992 semapv:UnspecifiedMatching -DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS_CUI:C0013295 semapv:UnspecifiedMatching -DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS_CUI:C0010474 semapv:UnspecifiedMatching -DOID:1724 duodenal ulcer oboInOwl:hasDbXref NCI:C26755 semapv:UnspecifiedMatching -DOID:1724 duodenal ulcer oboInOwl:hasDbXref ICD9CM:532 semapv:UnspecifiedMatching DOID:1724 duodenal ulcer oboInOwl:hasDbXref ICD10CM:K26 semapv:UnspecifiedMatching +DOID:1724 duodenal ulcer oboInOwl:hasDbXref ICD9CM:532 semapv:UnspecifiedMatching DOID:1724 duodenal ulcer oboInOwl:hasDbXref MESH:D004381 semapv:UnspecifiedMatching -DOID:1725 peritoneum cancer oboInOwl:hasDbXref ICD10CM:C48.1 semapv:UnspecifiedMatching +DOID:1724 duodenal ulcer oboInOwl:hasDbXref NCI:C26755 semapv:UnspecifiedMatching +DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS_CUI:C0010474 semapv:UnspecifiedMatching +DOID:1724 duodenal ulcer oboInOwl:hasDbXref UMLS_CUI:C0013295 semapv:UnspecifiedMatching DOID:1725 peritoneum cancer oboInOwl:hasDbXref ICD9CM:158.8 semapv:UnspecifiedMatching +DOID:1725 peritoneum cancer oboInOwl:hasDbXref ICD10CM:C48.1 semapv:UnspecifiedMatching DOID:1725 peritoneum cancer oboInOwl:hasDbXref UMLS_CUI:C0153466 semapv:UnspecifiedMatching DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref NCI:C35341 semapv:UnspecifiedMatching -DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0271080 semapv:UnspecifiedMatching DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref ICD10CM:H34.82 semapv:UnspecifiedMatching -DOID:1727 retinal vein occlusion oboInOwl:hasDbXref MESH:D012170 semapv:UnspecifiedMatching +DOID:1726 partial of retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0271080 semapv:UnspecifiedMatching DOID:1727 retinal vein occlusion oboInOwl:hasDbXref NCI:C34981 semapv:UnspecifiedMatching +DOID:1727 retinal vein occlusion oboInOwl:hasDbXref MESH:D012170 semapv:UnspecifiedMatching DOID:1727 retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0035328 semapv:UnspecifiedMatching +DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref UMLS_CUI:C0035326 semapv:UnspecifiedMatching +DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref NCI:C34980 semapv:UnspecifiedMatching DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref ICD10CM:H34 semapv:UnspecifiedMatching DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref ICD9CM:362.3 semapv:UnspecifiedMatching -DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref NCI:C34980 semapv:UnspecifiedMatching -DOID:1729 retinal vascular occlusion oboInOwl:hasDbXref UMLS_CUI:C0035326 semapv:UnspecifiedMatching DOID:173 eccrine sweat gland neoplasm oboInOwl:hasDbXref NCI:C6796 semapv:UnspecifiedMatching DOID:173 eccrine sweat gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333371 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref ICD10CM:B39 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref ICD9CM:115 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref MESH:C538362 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching +DOID:1731 histoplasmosis oboInOwl:hasDbXref NCI:C34977 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref NCI:C77201 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0019655 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref NCI:C34977 semapv:UnspecifiedMatching DOID:1731 histoplasmosis oboInOwl:hasDbXref UMLS_CUI:C0035288 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref MESH:C538362 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref ICD9CM:115 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref ICD10CM:B39 semapv:UnspecifiedMatching -DOID:1731 histoplasmosis oboInOwl:hasDbXref MESH:D006660 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref UMLS_CUI:C0010418 semapv:UnspecifiedMatching -DOID:1733 cryptosporidiosis oboInOwl:hasDbXref NCI:C128408 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref MESH:D003457 semapv:UnspecifiedMatching +DOID:1733 cryptosporidiosis oboInOwl:hasDbXref NCI:C128408 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref ICD10CM:A07.2 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref GARD:6219 semapv:UnspecifiedMatching DOID:1733 cryptosporidiosis oboInOwl:hasDbXref ICD9CM:007.4 semapv:UnspecifiedMatching @@ -19527,14 +19558,14 @@ DOID:1737 duodenal benign neoplasm oboInOwl:hasDbXref NCI:C2995 semapv:Unspecifi DOID:1737 duodenal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0013291 semapv:UnspecifiedMatching DOID:1738 small intestine leiomyoma oboInOwl:hasDbXref NCI:C7725 semapv:UnspecifiedMatching DOID:1738 small intestine leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0238197 semapv:UnspecifiedMatching +DOID:174 acanthoma skos:exactMatch MESH:D049309 semapv:UnspecifiedMatching +DOID:174 acanthoma oboInOwl:hasDbXref UMLS_CUI:C0846967 semapv:UnspecifiedMatching DOID:174 acanthoma oboInOwl:hasDbXref GARD:8604 semapv:UnspecifiedMatching DOID:174 acanthoma oboInOwl:hasDbXref MESH:D049309 semapv:UnspecifiedMatching DOID:174 acanthoma oboInOwl:hasDbXref NCI:C7419 semapv:UnspecifiedMatching -DOID:174 acanthoma oboInOwl:hasDbXref UMLS_CUI:C0846967 semapv:UnspecifiedMatching -DOID:174 acanthoma skos:exactMatch MESH:D049309 semapv:UnspecifiedMatching +DOID:1742 drug psychosis oboInOwl:hasDbXref UMLS_CUI:C0033937 semapv:UnspecifiedMatching DOID:1742 drug psychosis oboInOwl:hasDbXref ICD9CM:292.1 semapv:UnspecifiedMatching DOID:1742 drug psychosis oboInOwl:hasDbXref MESH:D011605 semapv:UnspecifiedMatching -DOID:1742 drug psychosis oboInOwl:hasDbXref UMLS_CUI:C0033937 semapv:UnspecifiedMatching DOID:1748 conjunctival squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346359 semapv:UnspecifiedMatching DOID:1748 conjunctival squamous cell carcinoma oboInOwl:hasDbXref NCI:C4549 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref EFO:0000707 semapv:UnspecifiedMatching @@ -19545,19 +19576,19 @@ DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref MESH:D018307 semapv:Unspeci DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref NCI:C2929 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007137 semapv:UnspecifiedMatching DOID:1749 squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0751688 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C0346845 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1335753 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1334630 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1334617 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1334616 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C0282607 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C1290407 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C0346845 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref UMLS_CUI:C0282607 semapv:UnspecifiedMatching +DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C7390 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5388 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5383 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5380 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C5348 semapv:UnspecifiedMatching DOID:175 vascular cancer oboInOwl:hasDbXref MESH:D019043 semapv:UnspecifiedMatching -DOID:175 vascular cancer oboInOwl:hasDbXref NCI:C7390 semapv:UnspecifiedMatching DOID:1751 malignant conjunctival melanoma oboInOwl:hasDbXref NCI:C4550 semapv:UnspecifiedMatching DOID:1751 malignant conjunctival melanoma oboInOwl:hasDbXref UMLS_CUI:C0346360 semapv:UnspecifiedMatching DOID:1752 ocular melanoma oboInOwl:hasDbXref GARD:7236 semapv:UnspecifiedMatching @@ -19566,10 +19597,10 @@ DOID:1754 mitral valve stenosis oboInOwl:hasDbXref MESH:D008946 semapv:Unspecifi DOID:1754 mitral valve stenosis oboInOwl:hasDbXref NCI:C50654 semapv:UnspecifiedMatching DOID:1754 mitral valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0026269 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0015464 semapv:UnspecifiedMatching -DOID:1756 facial nerve disease oboInOwl:hasDbXref MESH:D005155 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref NCI:C27594 semapv:UnspecifiedMatching -DOID:1756 facial nerve disease oboInOwl:hasDbXref ICD10CM:G51 semapv:UnspecifiedMatching +DOID:1756 facial nerve disease oboInOwl:hasDbXref MESH:D005155 semapv:UnspecifiedMatching DOID:1756 facial nerve disease oboInOwl:hasDbXref ICD9CM:351 semapv:UnspecifiedMatching +DOID:1756 facial nerve disease oboInOwl:hasDbXref ICD10CM:G51 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref MESH:D005150 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref NCI:C84703 semapv:UnspecifiedMatching DOID:1757 facial hemiatrophy oboInOwl:hasDbXref OMIM:141300 semapv:UnspecifiedMatching @@ -19607,33 +19638,33 @@ DOID:1776 labyrinthine unilateral reactive loss oboInOwl:hasDbXref ICD9CM:386.55 DOID:1776 labyrinthine unilateral reactive loss oboInOwl:hasDbXref UMLS_CUI:C0155519 semapv:UnspecifiedMatching DOID:1777 unilateral hyperactive labyrinth oboInOwl:hasDbXref ICD9CM:386.51 semapv:UnspecifiedMatching DOID:1777 unilateral hyperactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155515 semapv:UnspecifiedMatching +DOID:178 vascular disease oboInOwl:hasDbXref NCI:C26693 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0752130 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0752127 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0042373 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref UMLS_CUI:C0002940 semapv:UnspecifiedMatching -DOID:178 vascular disease oboInOwl:hasDbXref NCI:C26693 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref NCI:C35117 semapv:UnspecifiedMatching +DOID:178 vascular disease oboInOwl:hasDbXref MESH:D020760 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref MESH:D020758 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref MESH:D014652 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref MESH:D000783 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref ICD9CM:442.9 semapv:UnspecifiedMatching DOID:178 vascular disease oboInOwl:hasDbXref ICD10CM:I72.9 semapv:UnspecifiedMatching -DOID:178 vascular disease oboInOwl:hasDbXref MESH:D020760 semapv:UnspecifiedMatching -DOID:1781 thyroid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0040136 semapv:UnspecifiedMatching -DOID:1781 thyroid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0007115 semapv:UnspecifiedMatching -DOID:1781 thyroid gland cancer oboInOwl:hasDbXref NCI:C7510 semapv:UnspecifiedMatching -DOID:1781 thyroid gland cancer oboInOwl:hasDbXref NCI:C3414 semapv:UnspecifiedMatching -DOID:1781 thyroid gland cancer oboInOwl:hasDbXref KEGG:05216 semapv:UnspecifiedMatching -DOID:1781 thyroid gland cancer oboInOwl:hasDbXref ICD9CM:193 semapv:UnspecifiedMatching DOID:1781 thyroid gland cancer oboInOwl:hasDbXref ICD10CM:C73 semapv:UnspecifiedMatching +DOID:1781 thyroid gland cancer oboInOwl:hasDbXref ICD9CM:193 semapv:UnspecifiedMatching +DOID:1781 thyroid gland cancer oboInOwl:hasDbXref KEGG:05216 semapv:UnspecifiedMatching DOID:1781 thyroid gland cancer oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching +DOID:1781 thyroid gland cancer oboInOwl:hasDbXref NCI:C3414 semapv:UnspecifiedMatching +DOID:1781 thyroid gland cancer oboInOwl:hasDbXref NCI:C7510 semapv:UnspecifiedMatching +DOID:1781 thyroid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0007115 semapv:UnspecifiedMatching +DOID:1781 thyroid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0040136 semapv:UnspecifiedMatching +DOID:1785 pituitary cancer oboInOwl:hasDbXref NCI:C4769 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0496842 semapv:UnspecifiedMatching +DOID:1785 pituitary cancer oboInOwl:hasDbXref NCI:C3330 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0032019 semapv:UnspecifiedMatching -DOID:1785 pituitary cancer oboInOwl:hasDbXref NCI:C4769 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref ICD10CM:C75.1 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching DOID:1785 pituitary cancer oboInOwl:hasDbXref GARD:9371 semapv:UnspecifiedMatching -DOID:1785 pituitary cancer oboInOwl:hasDbXref NCI:C3330 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor oboInOwl:hasDbXref ICDO:8671/0 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor oboInOwl:hasDbXref MESH:D000314 semapv:UnspecifiedMatching DOID:1786 adrenal rest tumor oboInOwl:hasDbXref NCI:C2860 semapv:UnspecifiedMatching @@ -19650,68 +19681,68 @@ DOID:1788 peritoneal mesothelioma oboInOwl:hasDbXref NCI:C8704 semapv:Unspecifie DOID:1789 benign peritoneal mesothelioma oboInOwl:hasDbXref NCI:C7633 semapv:UnspecifiedMatching DOID:1789 benign peritoneal mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1377610 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1332338 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0392400 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0345967 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0278752 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref OMIM:156240 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0392400 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C7865 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C8420 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C4456 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C27926 semapv:UnspecifiedMatching -DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C8420 semapv:UnspecifiedMatching DOID:1790 malignant mesothelioma oboInOwl:hasDbXref MESH:D000086002 semapv:UnspecifiedMatching -DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref NCI:C40022 semapv:UnspecifiedMatching +DOID:1790 malignant mesothelioma oboInOwl:hasDbXref NCI:C7865 semapv:UnspecifiedMatching DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1514428 semapv:UnspecifiedMatching +DOID:1791 peritoneal carcinoma oboInOwl:hasDbXref NCI:C40022 semapv:UnspecifiedMatching DOID:1792 pancreas lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335307 semapv:UnspecifiedMatching DOID:1792 pancreas lymphoma oboInOwl:hasDbXref NCI:C5714 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref NCI:C3305 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref GARD:9364 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153463 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153460 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153459 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153458 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0030297 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref ORDO:217074 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ORDO:1333 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref NCI:C3305 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref MESH:D010190 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref ORDO:217074 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref UMLS_CUI:C0153458 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD9CM:157.8 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD9CM:157.2 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD9CM:157.1 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD9CM:157.0 semapv:UnspecifiedMatching +DOID:1793 pancreatic cancer oboInOwl:hasDbXref KEGG:05212 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD10CM:C25.2 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD10CM:C25.1 semapv:UnspecifiedMatching DOID:1793 pancreatic cancer oboInOwl:hasDbXref ICD10CM:C25.0 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref GARD:9364 semapv:UnspecifiedMatching -DOID:1793 pancreatic cancer oboInOwl:hasDbXref KEGG:05212 semapv:UnspecifiedMatching -DOID:1795 malignant exocrine pancreas neoplasm oboInOwl:hasDbXref NCI:C7430 semapv:UnspecifiedMatching DOID:1795 malignant exocrine pancreas neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346648 semapv:UnspecifiedMatching +DOID:1795 malignant exocrine pancreas neoplasm oboInOwl:hasDbXref NCI:C7430 semapv:UnspecifiedMatching DOID:1796 pancreas sarcoma oboInOwl:hasDbXref NCI:C5715 semapv:UnspecifiedMatching DOID:1796 pancreas sarcoma oboInOwl:hasDbXref UMLS_CUI:C1096346 semapv:UnspecifiedMatching -DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1328479 semapv:UnspecifiedMatching -DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref MESH:D018273 semapv:UnspecifiedMatching -DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref NCI:C3770 semapv:UnspecifiedMatching -DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref ICD10CM:C25.4 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref GARD:13034 semapv:UnspecifiedMatching +DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref ICD10CM:C25.4 semapv:UnspecifiedMatching DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref ICD9CM:157.4 semapv:UnspecifiedMatching -DOID:1799 islet cell tumor oboInOwl:hasDbXref ICD10CM:C25.4 semapv:UnspecifiedMatching -DOID:1799 islet cell tumor oboInOwl:hasDbXref ICD10CM:D13.7 semapv:UnspecifiedMatching -DOID:1799 islet cell tumor oboInOwl:hasDbXref MESH:D007516 semapv:UnspecifiedMatching +DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref MESH:D018273 semapv:UnspecifiedMatching +DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref NCI:C3770 semapv:UnspecifiedMatching +DOID:1798 pancreatic endocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1328479 semapv:UnspecifiedMatching DOID:1799 islet cell tumor oboInOwl:hasDbXref UMLS_CUI:C0242363 semapv:UnspecifiedMatching +DOID:1799 islet cell tumor oboInOwl:hasDbXref MESH:D007516 semapv:UnspecifiedMatching DOID:1799 islet cell tumor oboInOwl:hasDbXref UMLS_CUI:C0496784 semapv:UnspecifiedMatching -DOID:18 urinary system disease oboInOwl:hasDbXref UMLS_CUI:C1335051 semapv:UnspecifiedMatching +DOID:1799 islet cell tumor oboInOwl:hasDbXref ICD10CM:C25.4 semapv:UnspecifiedMatching +DOID:1799 islet cell tumor oboInOwl:hasDbXref ICD10CM:D13.7 semapv:UnspecifiedMatching DOID:18 urinary system disease oboInOwl:hasDbXref NCI:C27599 semapv:UnspecifiedMatching +DOID:18 urinary system disease oboInOwl:hasDbXref UMLS_CUI:C1335051 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref ICDO:9262/0 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref MESH:D018214 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref NCI:C8422 semapv:UnspecifiedMatching DOID:180 ossifying fibroma oboInOwl:hasDbXref UMLS_CUI:C0206640 semapv:UnspecifiedMatching -DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206695 semapv:UnspecifiedMatching DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref ICDO:8246/3 semapv:UnspecifiedMatching DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref MESH:D018278 semapv:UnspecifiedMatching DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C3773 semapv:UnspecifiedMatching +DOID:1800 neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206695 semapv:UnspecifiedMatching +DOID:1802 mononeuritis oboInOwl:hasDbXref ICD9CM:355.9 semapv:UnspecifiedMatching DOID:1802 mononeuritis oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching DOID:1802 mononeuritis oboInOwl:hasDbXref UMLS_CUI:C0235880 semapv:UnspecifiedMatching -DOID:1802 mononeuritis oboInOwl:hasDbXref ICD9CM:355.9 semapv:UnspecifiedMatching +DOID:1803 neuritis oboInOwl:hasDbXref UMLS_CUI:C0027813 semapv:UnspecifiedMatching DOID:1803 neuritis oboInOwl:hasDbXref MESH:D009443 semapv:UnspecifiedMatching DOID:1803 neuritis oboInOwl:hasDbXref NCI:C116381 semapv:UnspecifiedMatching -DOID:1803 neuritis oboInOwl:hasDbXref UMLS_CUI:C0027813 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref ICD10CM:G90.5 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref ICD9CM:337.2 semapv:UnspecifiedMatching DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref MESH:D012019 semapv:UnspecifiedMatching @@ -19721,13 +19752,13 @@ DOID:1811 reflex sympathetic dystrophy oboInOwl:hasDbXref UMLS_CUI:C0034931 sema DOID:182 calcinosis oboInOwl:hasDbXref MESH:D002114 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref NCI:C3672 semapv:UnspecifiedMatching DOID:182 calcinosis oboInOwl:hasDbXref UMLS_CUI:C0006663 semapv:UnspecifiedMatching -DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref ICD9CM:375.14 semapv:UnspecifiedMatching DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref UMLS_CUI:C0339121 semapv:UnspecifiedMatching DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref ICD10CM:H04.15 semapv:UnspecifiedMatching -DOID:1824 status epilepticus oboInOwl:hasDbXref GARD:10191 semapv:UnspecifiedMatching -DOID:1824 status epilepticus oboInOwl:hasDbXref MESH:D013226 semapv:UnspecifiedMatching +DOID:1822 secondary lacrimal atrophy oboInOwl:hasDbXref ICD9CM:375.14 semapv:UnspecifiedMatching DOID:1824 status epilepticus oboInOwl:hasDbXref NCI:C85079 semapv:UnspecifiedMatching DOID:1824 status epilepticus oboInOwl:hasDbXref UMLS_CUI:C0038220 semapv:UnspecifiedMatching +DOID:1824 status epilepticus oboInOwl:hasDbXref GARD:10191 semapv:UnspecifiedMatching +DOID:1824 status epilepticus oboInOwl:hasDbXref MESH:D013226 semapv:UnspecifiedMatching DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref MESH:D004832 semapv:UnspecifiedMatching DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref NCI:C3023 semapv:UnspecifiedMatching DOID:1825 childhood absence epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014553 semapv:UnspecifiedMatching @@ -19737,82 +19768,82 @@ DOID:1826 epilepsy oboInOwl:hasDbXref ICD9CM:345.9 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref MESH:D004827 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref NCI:C3020 semapv:UnspecifiedMatching DOID:1826 epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014544 semapv:UnspecifiedMatching -DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014548 semapv:UnspecifiedMatching -DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref OMIM:600669 semapv:UnspecifiedMatching -DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref NCI:C3021 semapv:UnspecifiedMatching DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref MESH:D004829 semapv:UnspecifiedMatching -DOID:1829 urethral stricture oboInOwl:hasDbXref ICD9CM:598.8 semapv:UnspecifiedMatching +DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref NCI:C3021 semapv:UnspecifiedMatching +DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref OMIM:600669 semapv:UnspecifiedMatching +DOID:1827 idiopathic generalized epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014548 semapv:UnspecifiedMatching DOID:1829 urethral stricture oboInOwl:hasDbXref UMLS_CUI:C0029752 semapv:UnspecifiedMatching DOID:1829 urethral stricture skos:exactMatch MESH:D14525 semapv:UnspecifiedMatching +DOID:1829 urethral stricture oboInOwl:hasDbXref ICD9CM:598.8 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref GARD:7056 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref ICD10CM:G58.7 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref ICD9CM:354.5 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref MESH:D020422 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref NCI:C70938 semapv:UnspecifiedMatching DOID:1835 mononeuritis multiplex oboInOwl:hasDbXref UMLS_CUI:C0151295 semapv:UnspecifiedMatching -DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref OMIM:612227 semapv:UnspecifiedMatching +DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref MESH:D016883 semapv:UnspecifiedMatching +DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref ICD9CM:250.1 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref NCI:C50530 semapv:UnspecifiedMatching +DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref OMIM:612227 semapv:UnspecifiedMatching DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref UMLS_CUI:C0011880 semapv:UnspecifiedMatching -DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref ICD9CM:250.1 semapv:UnspecifiedMatching -DOID:1837 diabetic ketoacidosis oboInOwl:hasDbXref MESH:D016883 semapv:UnspecifiedMatching -DOID:1838 Menkes disease oboInOwl:hasDbXref GARD:1521 semapv:UnspecifiedMatching -DOID:1838 Menkes disease oboInOwl:hasDbXref MESH:D007706 semapv:UnspecifiedMatching -DOID:1838 Menkes disease oboInOwl:hasDbXref NCI:C75486 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref OMIM:309400 semapv:UnspecifiedMatching +DOID:1838 Menkes disease oboInOwl:hasDbXref NCI:C75486 semapv:UnspecifiedMatching DOID:1838 Menkes disease oboInOwl:hasDbXref UMLS_CUI:C0022716 semapv:UnspecifiedMatching +DOID:1838 Menkes disease oboInOwl:hasDbXref GARD:1521 semapv:UnspecifiedMatching +DOID:1838 Menkes disease oboInOwl:hasDbXref MESH:D007706 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref UMLS_CUI:C0005967 semapv:UnspecifiedMatching -DOID:184 bone cancer oboInOwl:hasDbXref NCI:C9343 semapv:UnspecifiedMatching DOID:184 bone cancer oboInOwl:hasDbXref MESH:D001859 semapv:UnspecifiedMatching +DOID:184 bone cancer oboInOwl:hasDbXref NCI:C9343 semapv:UnspecifiedMatching DOID:1844 mononeuritis of upper limb oboInOwl:hasDbXref ICD9CM:354.9 semapv:UnspecifiedMatching DOID:1844 mononeuritis of upper limb oboInOwl:hasDbXref UMLS_CUI:C0154746 semapv:UnspecifiedMatching -DOID:1849 cannabis dependence oboInOwl:hasDbXref NCI:C34445 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref ICD10CM:F12.2 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref ICD9CM:304.3 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref MESH:D002189 semapv:UnspecifiedMatching +DOID:1849 cannabis dependence oboInOwl:hasDbXref NCI:C34445 semapv:UnspecifiedMatching DOID:1849 cannabis dependence oboInOwl:hasDbXref UMLS_CUI:C0006870 semapv:UnspecifiedMatching -DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref ORDO:284385 semapv:UnspecifiedMatching -DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref NCI:C84400 semapv:UnspecifiedMatching -DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0008372 semapv:UnspecifiedMatching DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref GARD:10214 semapv:UnspecifiedMatching DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref MESH:D002780 semapv:UnspecifiedMatching +DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref NCI:C84400 semapv:UnspecifiedMatching +DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref ORDO:284385 semapv:UnspecifiedMatching +DOID:1852 intrahepatic cholestasis oboInOwl:hasDbXref UMLS_CUI:C0008372 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref UMLS_CUI:C0008029 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref OMIM:118400 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref NCI:C84630 semapv:UnspecifiedMatching -DOID:1856 cherubism oboInOwl:hasDbXref GARD:6036 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref ICD10CM:M27.8 semapv:UnspecifiedMatching +DOID:1856 cherubism oboInOwl:hasDbXref GARD:6036 semapv:UnspecifiedMatching DOID:1856 cherubism oboInOwl:hasDbXref MESH:D002636 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome skos:exactMatch MESH:D005359 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref NCI:C34610 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref UMLS_CUI:C0016065 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD9CM:756.54 semapv:UnspecifiedMatching -DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD10CM:Q78.1 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref GARD:6995 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD10CM:Q78.1 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref ICD9CM:756.54 semapv:UnspecifiedMatching DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref MESH:D005359 semapv:UnspecifiedMatching -DOID:1862 jaw cancer oboInOwl:hasDbXref MESH:D007573 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref NCI:C34610 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref OMIM:174800 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome oboInOwl:hasDbXref UMLS_CUI:C0016065 semapv:UnspecifiedMatching +DOID:1858 McCune Albright syndrome skos:exactMatch MESH:D005359 semapv:UnspecifiedMatching DOID:1862 jaw cancer oboInOwl:hasDbXref UMLS_CUI:C0022364 semapv:UnspecifiedMatching +DOID:1862 jaw cancer oboInOwl:hasDbXref MESH:D007573 semapv:UnspecifiedMatching +DOID:1863 skull cancer oboInOwl:hasDbXref UMLS_CUI:C0037305 semapv:UnspecifiedMatching DOID:1863 skull cancer oboInOwl:hasDbXref MESH:D012888 semapv:UnspecifiedMatching DOID:1863 skull cancer oboInOwl:hasDbXref NCI:C3375 semapv:UnspecifiedMatching -DOID:1863 skull cancer oboInOwl:hasDbXref UMLS_CUI:C0037305 semapv:UnspecifiedMatching -DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref UMLS_CUI:C0162375 semapv:UnspecifiedMatching -DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref NCI:C173930 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref ICD10CM:M27.1 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref ICD9CM:526.3 semapv:UnspecifiedMatching DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref MESH:D006101 semapv:UnspecifiedMatching +DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref NCI:C173930 semapv:UnspecifiedMatching +DOID:1866 giant cell reparative granuloma oboInOwl:hasDbXref UMLS_CUI:C0162375 semapv:UnspecifiedMatching DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref ICD10CM:I09.2 semapv:UnspecifiedMatching DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref ICD9CM:393 semapv:UnspecifiedMatching DOID:1869 chronic rheumatic pericarditis oboInOwl:hasDbXref UMLS_CUI:C0155561 semapv:UnspecifiedMatching DOID:1875 impotence oboInOwl:hasDbXref EFO:0004234 semapv:UnspecifiedMatching DOID:1875 impotence oboInOwl:hasDbXref NCI:C3133 semapv:UnspecifiedMatching -DOID:1876 sexual dysfunction oboInOwl:hasDbXref ICD10CM:F52.9 semapv:UnspecifiedMatching -DOID:1876 sexual dysfunction oboInOwl:hasDbXref NCI:C3347 semapv:UnspecifiedMatching DOID:1876 sexual dysfunction oboInOwl:hasDbXref UMLS_CUI:C0549622 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ORDO:1478 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect oboInOwl:hasDbXref UMLS_CUI:C0018817 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect oboInOwl:hasDbXref OMIMPS:108800 semapv:UnspecifiedMatching -DOID:1882 atrial heart septal defect oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching +DOID:1876 sexual dysfunction oboInOwl:hasDbXref NCI:C3347 semapv:UnspecifiedMatching +DOID:1876 sexual dysfunction oboInOwl:hasDbXref ICD10CM:F52.9 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ICD10CM:Q21.1 semapv:UnspecifiedMatching +DOID:1882 atrial heart septal defect oboInOwl:hasDbXref MESH:D006344 semapv:UnspecifiedMatching DOID:1882 atrial heart septal defect oboInOwl:hasDbXref NCI:C84473 semapv:UnspecifiedMatching +DOID:1882 atrial heart septal defect oboInOwl:hasDbXref OMIMPS:108800 semapv:UnspecifiedMatching +DOID:1882 atrial heart septal defect oboInOwl:hasDbXref ORDO:1478 semapv:UnspecifiedMatching +DOID:1882 atrial heart septal defect oboInOwl:hasDbXref UMLS_CUI:C0018817 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref EFO:0003047 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref ICD10CM:B19.20 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref ICD9CM:070.7 semapv:UnspecifiedMatching @@ -19821,12 +19852,12 @@ DOID:1883 hepatitis C oboInOwl:hasDbXref NCI:C3098 semapv:UnspecifiedMatching DOID:1883 hepatitis C oboInOwl:hasDbXref UMLS_CUI:C0019196 semapv:UnspecifiedMatching DOID:1884 viral hepatitis oboInOwl:hasDbXref MESH:D006524 semapv:UnspecifiedMatching DOID:1884 viral hepatitis oboInOwl:hasDbXref UMLS_CUI:C0019194 semapv:UnspecifiedMatching +DOID:1891 optic nerve disease oboInOwl:hasDbXref NCI:C79698 semapv:UnspecifiedMatching DOID:1891 optic nerve disease oboInOwl:hasDbXref UMLS_CUI:C0029132 semapv:UnspecifiedMatching DOID:1891 optic nerve disease oboInOwl:hasDbXref MESH:D009901 semapv:UnspecifiedMatching -DOID:1891 optic nerve disease oboInOwl:hasDbXref NCI:C79698 semapv:UnspecifiedMatching +DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref ICD9CM:373.31 semapv:UnspecifiedMatching DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155177 semapv:UnspecifiedMatching DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref ICD10CM:H01.13 semapv:UnspecifiedMatching -DOID:1893 eczematous dermatitis of eyelid oboInOwl:hasDbXref ICD9CM:373.31 semapv:UnspecifiedMatching DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref ICD10CM:H01.1 semapv:UnspecifiedMatching DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref ICD9CM:373.3 semapv:UnspecifiedMatching DOID:1894 noninfectious dermatoses of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155176 semapv:UnspecifiedMatching @@ -19838,12 +19869,12 @@ DOID:1897 sigmoid disease oboInOwl:hasDbXref MESH:D012810 semapv:UnspecifiedMatc DOID:1897 sigmoid disease oboInOwl:hasDbXref UMLS_CUI:C0037072 semapv:UnspecifiedMatching DOID:1901 vagina sarcoma oboInOwl:hasDbXref NCI:C7737 semapv:UnspecifiedMatching DOID:1901 vagina sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238519 semapv:UnspecifiedMatching -DOID:1906 malignant skin fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1275254 semapv:UnspecifiedMatching DOID:1906 malignant skin fibrous histiocytoma oboInOwl:hasDbXref NCI:C5576 semapv:UnspecifiedMatching +DOID:1906 malignant skin fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1275254 semapv:UnspecifiedMatching +DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0334463 semapv:UnspecifiedMatching +DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref NCI:C4247 semapv:UnspecifiedMatching DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref ICDO:8830/3 semapv:UnspecifiedMatching DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref MESH:D051677 semapv:UnspecifiedMatching -DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref NCI:C4247 semapv:UnspecifiedMatching -DOID:1907 malignant fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0334463 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref EFO:0000756 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref ICDO:8720/3 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref KEGG:05218 semapv:UnspecifiedMatching @@ -19851,73 +19882,73 @@ DOID:1909 melanoma oboInOwl:hasDbXref MESH:D008545 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref NCI:C3224 semapv:UnspecifiedMatching DOID:1909 melanoma oboInOwl:hasDbXref UMLS_CUI:C0025202 semapv:UnspecifiedMatching DOID:1909 melanoma skos:exactMatch MESH:D008545 semapv:UnspecifiedMatching -DOID:1910 vaginal yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1336945 semapv:UnspecifiedMatching DOID:1910 vaginal yolk sac tumor oboInOwl:hasDbXref NCI:C6379 semapv:UnspecifiedMatching +DOID:1910 vaginal yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1336945 semapv:UnspecifiedMatching DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C0014145 semapv:UnspecifiedMatching -DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref NCI:C3011 semapv:UnspecifiedMatching -DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref ICDO:9071/3 semapv:UnspecifiedMatching DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref MESH:D018240 semapv:UnspecifiedMatching +DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref ICDO:9071/3 semapv:UnspecifiedMatching +DOID:1911 endodermal sinus tumor oboInOwl:hasDbXref NCI:C3011 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref ICD10CM:E79.1 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref MESH:D007926 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref NCI:C61255 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref OMIM:300322 semapv:UnspecifiedMatching DOID:1919 Lesch-Nyhan syndrome oboInOwl:hasDbXref UMLS_CUI:C0023374 semapv:UnspecifiedMatching -DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0206724 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref ICDO:8590/1 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref MESH:D018312 semapv:UnspecifiedMatching DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref NCI:C3794 semapv:UnspecifiedMatching -DOID:1920 hyperuricemia oboInOwl:hasDbXref NCI:C3961 semapv:UnspecifiedMatching +DOID:192 sex cord-gonadal stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0206724 semapv:UnspecifiedMatching DOID:1920 hyperuricemia oboInOwl:hasDbXref UMLS_CUI:C0740394 semapv:UnspecifiedMatching DOID:1920 hyperuricemia oboInOwl:hasDbXref MESH:D033461 semapv:UnspecifiedMatching -DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref UMLS_CUI:C0022735 semapv:UnspecifiedMatching -DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref NCI:C34752 semapv:UnspecifiedMatching -DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref MESH:D007713 semapv:UnspecifiedMatching +DOID:1920 hyperuricemia oboInOwl:hasDbXref NCI:C3961 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref GARD:8705 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref ICD10CM:Q98.0 semapv:UnspecifiedMatching DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref ICD9CM:758.7 semapv:UnspecifiedMatching -DOID:1923 disorder of sexual development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching +DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref MESH:D007713 semapv:UnspecifiedMatching +DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref NCI:C34752 semapv:UnspecifiedMatching +DOID:1921 Klinefelter syndrome oboInOwl:hasDbXref UMLS_CUI:C0022735 semapv:UnspecifiedMatching DOID:1923 disorder of sexual development oboInOwl:hasDbXref UMLS_CUI:C0036875 semapv:UnspecifiedMatching -DOID:1924 hypogonadism oboInOwl:hasDbXref MESH:D007006 semapv:UnspecifiedMatching -DOID:1924 hypogonadism oboInOwl:hasDbXref NCI:C9227 semapv:UnspecifiedMatching +DOID:1923 disorder of sexual development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:241100 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref OMIM:312300 semapv:UnspecifiedMatching +DOID:1924 hypogonadism oboInOwl:hasDbXref MESH:D007006 semapv:UnspecifiedMatching +DOID:1924 hypogonadism oboInOwl:hasDbXref NCI:C9227 semapv:UnspecifiedMatching DOID:1924 hypogonadism oboInOwl:hasDbXref UMLS_CUI:C0020619 semapv:UnspecifiedMatching -DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS_CUI:C0265338 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref ORDO:1465 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref OMIMPS:135900 semapv:UnspecifiedMatching +DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref UMLS_CUI:C0265338 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref MESH:C536436 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref GARD:6124 semapv:UnspecifiedMatching DOID:1925 Coffin-Siris syndrome oboInOwl:hasDbXref NCI:C35321 semapv:UnspecifiedMatching -DOID:1926 Gaucher's disease oboInOwl:hasDbXref GARD:8233 semapv:UnspecifiedMatching +DOID:1926 Gaucher's disease oboInOwl:hasDbXref UMLS_CUI:C0017205 semapv:UnspecifiedMatching +DOID:1926 Gaucher's disease oboInOwl:hasDbXref ORDO:355 semapv:UnspecifiedMatching +DOID:1926 Gaucher's disease oboInOwl:hasDbXref NCI:C61268 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref ICD10CM:E75.22 semapv:UnspecifiedMatching +DOID:1926 Gaucher's disease oboInOwl:hasDbXref GARD:8233 semapv:UnspecifiedMatching DOID:1926 Gaucher's disease oboInOwl:hasDbXref MESH:D005776 semapv:UnspecifiedMatching -DOID:1926 Gaucher's disease oboInOwl:hasDbXref NCI:C61268 semapv:UnspecifiedMatching -DOID:1926 Gaucher's disease oboInOwl:hasDbXref ORDO:355 semapv:UnspecifiedMatching -DOID:1926 Gaucher's disease oboInOwl:hasDbXref UMLS_CUI:C0017205 semapv:UnspecifiedMatching -DOID:1927 sphingolipidosis oboInOwl:hasDbXref NCI:C117254 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref GARD:7672 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref ICD10CM:E75.3 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref MESH:D013106 semapv:UnspecifiedMatching +DOID:1927 sphingolipidosis oboInOwl:hasDbXref NCI:C117254 semapv:UnspecifiedMatching DOID:1927 sphingolipidosis oboInOwl:hasDbXref UMLS_CUI:C0037899 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref UMLS_CUI:C0175702 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref NCI:C85232 semapv:UnspecifiedMatching -DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref ICD10CM:Q93.82 semapv:UnspecifiedMatching +DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref MESH:D018980 semapv:UnspecifiedMatching +DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref NCI:C85232 semapv:UnspecifiedMatching +DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref OMIM:194050 semapv:UnspecifiedMatching +DOID:1928 Williams-Beuren syndrome oboInOwl:hasDbXref UMLS_CUI:C0175702 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref UMLS_CUI:C0003499 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref OMIM:185500 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref NCI:C85176 semapv:UnspecifiedMatching -DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref GARD:743 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref ICD10CM:Q25.3 semapv:UnspecifiedMatching +DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref GARD:743 semapv:UnspecifiedMatching DOID:1929 supravalvular aortic stenosis oboInOwl:hasDbXref MESH:D021921 semapv:UnspecifiedMatching DOID:193 reproductive organ cancer oboInOwl:hasDbXref NCI:C3674 semapv:UnspecifiedMatching DOID:193 reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0178830 semapv:UnspecifiedMatching +DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref ORDO:2377 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref GARD:12635 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref MEDDRA:10056710 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref MESH:D007849 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref NCI:C34760 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref OMIM:245800 semapv:UnspecifiedMatching -DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref ORDO:2377 semapv:UnspecifiedMatching DOID:1930 Laurence-Moon syndrome oboInOwl:hasDbXref UMLS_CUI:C0023138 semapv:UnspecifiedMatching DOID:1931 hypothalamic disease oboInOwl:hasDbXref UMLS_CUI:C0020655 semapv:UnspecifiedMatching DOID:1931 hypothalamic disease oboInOwl:hasDbXref MESH:D007027 semapv:UnspecifiedMatching @@ -19928,66 +19959,66 @@ DOID:1932 Angelman syndrome oboInOwl:hasDbXref NCI:C75462 semapv:UnspecifiedMatc DOID:1932 Angelman syndrome oboInOwl:hasDbXref OMIM:105830 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome oboInOwl:hasDbXref UMLS_CUI:C0162635 semapv:UnspecifiedMatching DOID:1932 Angelman syndrome skos:exactMatch MESH:D017204 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS_CUI:C0035934 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching +DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref UMLS_CUI:C0035934 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ORDO:783 semapv:UnspecifiedMatching +DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:180849 semapv:UnspecifiedMatching +DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref MESH:D012415 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching -DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref NCI:C75466 semapv:UnspecifiedMatching DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref GARD:7593 semapv:UnspecifiedMatching +DOID:1933 Rubinstein-Taybi syndrome oboInOwl:hasDbXref NCI:C75466 semapv:UnspecifiedMatching DOID:1934 dysostosis oboInOwl:hasDbXref MESH:D004413 semapv:UnspecifiedMatching DOID:1934 dysostosis oboInOwl:hasDbXref NCI:C34560 semapv:UnspecifiedMatching DOID:1934 dysostosis oboInOwl:hasDbXref UMLS_CUI:C0013393 semapv:UnspecifiedMatching -DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS_CUI:C0752166 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref ORDO:110 semapv:UnspecifiedMatching -DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIMPS:209900 semapv:UnspecifiedMatching +DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref GARD:6866 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref ICD10CM:Q87.89 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref MESH:D020788 semapv:UnspecifiedMatching -DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref GARD:6866 semapv:UnspecifiedMatching DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref NCI:C118632 semapv:UnspecifiedMatching -DOID:1936 atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0004153 semapv:UnspecifiedMatching -DOID:1936 atherosclerosis skos:exactMatch MESH:D050197 semapv:UnspecifiedMatching +DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref OMIMPS:209900 semapv:UnspecifiedMatching +DOID:1935 Bardet-Biedl syndrome oboInOwl:hasDbXref UMLS_CUI:C0752166 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref NCI:C35768 semapv:UnspecifiedMatching +DOID:1936 atherosclerosis skos:exactMatch MESH:D050197 semapv:UnspecifiedMatching +DOID:1936 atherosclerosis oboInOwl:hasDbXref MESH:D050197 semapv:UnspecifiedMatching +DOID:1936 atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0004153 semapv:UnspecifiedMatching +DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref EFO:0003914 semapv:UnspecifiedMatching DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD9CM:440 semapv:UnspecifiedMatching -DOID:1936 atherosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching -DOID:1936 atherosclerosis oboInOwl:hasDbXref MESH:D050197 semapv:UnspecifiedMatching DOID:1942 intermittent squint oboInOwl:hasDbXref ICD10CM:H50.3 semapv:UnspecifiedMatching DOID:1942 intermittent squint oboInOwl:hasDbXref ICD9CM:378.2 semapv:UnspecifiedMatching DOID:1942 intermittent squint oboInOwl:hasDbXref UMLS_CUI:C0152210 semapv:UnspecifiedMatching -DOID:1943 telogen effluvium oboInOwl:hasDbXref ICD10CM:L65.0 semapv:UnspecifiedMatching -DOID:1943 telogen effluvium oboInOwl:hasDbXref ICD9CM:704.02 semapv:UnspecifiedMatching DOID:1943 telogen effluvium oboInOwl:hasDbXref NCI:C112200 semapv:UnspecifiedMatching DOID:1943 telogen effluvium oboInOwl:hasDbXref UMLS_CUI:C0263518 semapv:UnspecifiedMatching -DOID:1947 trichomoniasis oboInOwl:hasDbXref UMLS_CUI:C0040921 semapv:UnspecifiedMatching -DOID:1947 trichomoniasis oboInOwl:hasDbXref MESH:D014245 semapv:UnspecifiedMatching -DOID:1947 trichomoniasis oboInOwl:hasDbXref NCI:C35720 semapv:UnspecifiedMatching +DOID:1943 telogen effluvium oboInOwl:hasDbXref ICD10CM:L65.0 semapv:UnspecifiedMatching +DOID:1943 telogen effluvium oboInOwl:hasDbXref ICD9CM:704.02 semapv:UnspecifiedMatching +DOID:1947 trichomoniasis oboInOwl:hasDbXref ICD10CM:A59 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref ICD9CM:131 semapv:UnspecifiedMatching DOID:1947 trichomoniasis oboInOwl:hasDbXref MEDDRA:10044620 semapv:UnspecifiedMatching -DOID:1947 trichomoniasis oboInOwl:hasDbXref ICD10CM:A59 semapv:UnspecifiedMatching -DOID:1949 cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0008325 semapv:UnspecifiedMatching +DOID:1947 trichomoniasis oboInOwl:hasDbXref MESH:D014245 semapv:UnspecifiedMatching +DOID:1947 trichomoniasis oboInOwl:hasDbXref NCI:C35720 semapv:UnspecifiedMatching +DOID:1947 trichomoniasis oboInOwl:hasDbXref UMLS_CUI:C0040921 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref OMIM:600803 semapv:UnspecifiedMatching +DOID:1949 cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0008325 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref NCI:C34465 semapv:UnspecifiedMatching -DOID:1949 cholecystitis oboInOwl:hasDbXref ICD10CM:K81 semapv:UnspecifiedMatching +DOID:1949 cholecystitis oboInOwl:hasDbXref GARD:30 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref ICD9CM:575.10 semapv:UnspecifiedMatching +DOID:1949 cholecystitis oboInOwl:hasDbXref ICD10CM:K81 semapv:UnspecifiedMatching DOID:1949 cholecystitis oboInOwl:hasDbXref MESH:D002764 semapv:UnspecifiedMatching -DOID:1949 cholecystitis oboInOwl:hasDbXref GARD:30 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref MESH:D005184 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref NCI:C26771 semapv:UnspecifiedMatching DOID:1962 fallopian tube disease oboInOwl:hasDbXref UMLS_CUI:C0015556 semapv:UnspecifiedMatching DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref MESH:D005185 semapv:UnspecifiedMatching DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref NCI:C3867 semapv:UnspecifiedMatching DOID:1963 fallopian tube carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238122 semapv:UnspecifiedMatching -DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS_CUI:C0153579 semapv:UnspecifiedMatching -DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS_CUI:C0015558 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref NCI:C7480 semapv:UnspecifiedMatching +DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS_CUI:C0015558 semapv:UnspecifiedMatching +DOID:1964 fallopian tube cancer oboInOwl:hasDbXref UMLS_CUI:C0153579 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref NCI:C3032 semapv:UnspecifiedMatching -DOID:1964 fallopian tube cancer oboInOwl:hasDbXref MESH:D005185 semapv:UnspecifiedMatching -DOID:1964 fallopian tube cancer oboInOwl:hasDbXref ICD9CM:183.2 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref ICD10CM:C57.0 semapv:UnspecifiedMatching +DOID:1964 fallopian tube cancer oboInOwl:hasDbXref ICD9CM:183.2 semapv:UnspecifiedMatching DOID:1964 fallopian tube cancer oboInOwl:hasDbXref GARD:9162 semapv:UnspecifiedMatching +DOID:1964 fallopian tube cancer oboInOwl:hasDbXref MESH:D005185 semapv:UnspecifiedMatching DOID:1965 fallopian tube leiomyosarcoma oboInOwl:hasDbXref NCI:C40128 semapv:UnspecifiedMatching DOID:1965 fallopian tube leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517116 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref GARD:6880 semapv:UnspecifiedMatching @@ -19995,12 +20026,12 @@ DOID:1967 leiomyosarcoma oboInOwl:hasDbXref ICDO:8890/3 semapv:UnspecifiedMatchi DOID:1967 leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref NCI:C3158 semapv:UnspecifiedMatching DOID:1967 leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0023269 semapv:UnspecifiedMatching -DOID:1969 cerebral palsy oboInOwl:hasDbXref UMLS_CUI:C0007789 semapv:UnspecifiedMatching DOID:1969 cerebral palsy oboInOwl:hasDbXref NCI:C34460 semapv:UnspecifiedMatching -DOID:1969 cerebral palsy oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching +DOID:1969 cerebral palsy oboInOwl:hasDbXref UMLS_CUI:C0007789 semapv:UnspecifiedMatching DOID:1969 cerebral palsy oboInOwl:hasDbXref ICD10CM:G80 semapv:UnspecifiedMatching -DOID:1970 fallopian tube carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517117 semapv:UnspecifiedMatching +DOID:1969 cerebral palsy oboInOwl:hasDbXref MESH:D002547 semapv:UnspecifiedMatching DOID:1970 fallopian tube carcinosarcoma oboInOwl:hasDbXref NCI:C40124 semapv:UnspecifiedMatching +DOID:1970 fallopian tube carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517117 semapv:UnspecifiedMatching DOID:1973 fallopian tube adenosarcoma oboInOwl:hasDbXref NCI:C40125 semapv:UnspecifiedMatching DOID:1973 fallopian tube adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1517121 semapv:UnspecifiedMatching DOID:1974 adenosarcoma oboInOwl:hasDbXref ICDO:8933/3 semapv:UnspecifiedMatching @@ -20010,14 +20041,14 @@ DOID:1974 adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C0001442 semapv:UnspecifiedMa DOID:1974 adenosarcoma skos:exactMatch MESH:D018195 semapv:UnspecifiedMatching DOID:1975 thymus lipoma oboInOwl:hasDbXref NCI:C6452 semapv:UnspecifiedMatching DOID:1975 thymus lipoma oboInOwl:hasDbXref UMLS_CUI:C1336744 semapv:UnspecifiedMatching -DOID:1979 focal chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.0 semapv:UnspecifiedMatching DOID:1979 focal chorioretinitis oboInOwl:hasDbXref ICD9CM:363.0 semapv:UnspecifiedMatching +DOID:1979 focal chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.0 semapv:UnspecifiedMatching DOID:1979 focal chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0154870 semapv:UnspecifiedMatching -DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref NCI:C3350 semapv:UnspecifiedMatching DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0034885 semapv:UnspecifiedMatching DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref MESH:D012004 semapv:UnspecifiedMatching -DOID:1988 rectum lymphoma oboInOwl:hasDbXref NCI:C5553 semapv:UnspecifiedMatching +DOID:1984 rectal benign neoplasm oboInOwl:hasDbXref NCI:C3350 semapv:UnspecifiedMatching DOID:1988 rectum lymphoma oboInOwl:hasDbXref UMLS_CUI:C1335685 semapv:UnspecifiedMatching +DOID:1988 rectum lymphoma oboInOwl:hasDbXref NCI:C5553 semapv:UnspecifiedMatching DOID:1992 rectum malignant melanoma oboInOwl:hasDbXref NCI:C4640 semapv:UnspecifiedMatching DOID:1992 rectum malignant melanoma oboInOwl:hasDbXref UMLS_CUI:C0349539 semapv:UnspecifiedMatching DOID:1993 rectum cancer oboInOwl:hasDbXref ICD10CM:C20 semapv:UnspecifiedMatching @@ -20029,139 +20060,139 @@ DOID:1993 rectum cancer oboInOwl:hasDbXref UMLS_CUI:C0007113 semapv:UnspecifiedM DOID:1993 rectum cancer oboInOwl:hasDbXref UMLS_CUI:C0949022 semapv:UnspecifiedMatching DOID:1995 rectum sarcoma oboInOwl:hasDbXref NCI:C5548 semapv:UnspecifiedMatching DOID:1995 rectum sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335688 semapv:UnspecifiedMatching -DOID:1996 rectum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0149978 semapv:UnspecifiedMatching DOID:1996 rectum adenocarcinoma oboInOwl:hasDbXref NCI:C9383 semapv:UnspecifiedMatching +DOID:1996 rectum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0149978 semapv:UnspecifiedMatching DOID:1998 Lutembacher's syndrome oboInOwl:hasDbXref MESH:D008185 semapv:UnspecifiedMatching DOID:1998 Lutembacher's syndrome oboInOwl:hasDbXref UMLS_CUI:C0024164 semapv:UnspecifiedMatching -DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref ICD10CM:H68.02 semapv:UnspecifiedMatching -DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref ICD9CM:381.52 semapv:UnspecifiedMatching DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref UMLS_CUI:C0155430 semapv:UnspecifiedMatching +DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref ICD9CM:381.52 semapv:UnspecifiedMatching +DOID:1999 chronic eustachian salpingitis oboInOwl:hasDbXref ICD10CM:H68.02 semapv:UnspecifiedMatching DOID:200 benign giant cell tumor oboInOwl:hasDbXref MESH:D005870 semapv:UnspecifiedMatching DOID:200 benign giant cell tumor oboInOwl:hasDbXref NCI:C3055 semapv:UnspecifiedMatching DOID:200 benign giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C0017525 semapv:UnspecifiedMatching DOID:2000 otosalpingitis oboInOwl:hasDbXref ICD10CM:H68.0 semapv:UnspecifiedMatching DOID:2000 otosalpingitis oboInOwl:hasDbXref ICD9CM:381.5 semapv:UnspecifiedMatching DOID:2000 otosalpingitis oboInOwl:hasDbXref UMLS_CUI:C0155428 semapv:UnspecifiedMatching -DOID:2001 neuroma oboInOwl:hasDbXref NCI:C3275 semapv:UnspecifiedMatching -DOID:2001 neuroma oboInOwl:hasDbXref UMLS_CUI:C0027858 semapv:UnspecifiedMatching DOID:2001 neuroma oboInOwl:hasDbXref ICDO:9570/0 semapv:UnspecifiedMatching DOID:2001 neuroma oboInOwl:hasDbXref MESH:D009463 semapv:UnspecifiedMatching +DOID:2001 neuroma oboInOwl:hasDbXref NCI:C3275 semapv:UnspecifiedMatching +DOID:2001 neuroma oboInOwl:hasDbXref UMLS_CUI:C0027858 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref ICD9CM:362.56 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref MESH:D019773 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref NCI:C175882 semapv:UnspecifiedMatching DOID:2006 preretinal fibrosis oboInOwl:hasDbXref UMLS_CUI:C0339543 semapv:UnspecifiedMatching -DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref ICD9CM:362.5 semapv:UnspecifiedMatching DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref UMLS_CUI:C0339436 semapv:UnspecifiedMatching DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref ICD10CM:H35.3 semapv:UnspecifiedMatching +DOID:2007 degeneration of macula and posterior pole oboInOwl:hasDbXref ICD9CM:362.5 semapv:UnspecifiedMatching DOID:201 connective tissue cancer oboInOwl:hasDbXref MESH:D009372 semapv:UnspecifiedMatching DOID:201 connective tissue cancer oboInOwl:hasDbXref UMLS_CUI:C0027656 semapv:UnspecifiedMatching -DOID:2012 Nezelof syndrome oboInOwl:hasDbXref UMLS_CUI:C0152094 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ICD10CM:D81.4 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ICD9CM:279.13 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref OMIM:242700 semapv:UnspecifiedMatching DOID:2012 Nezelof syndrome oboInOwl:hasDbXref ORDO:83471 semapv:UnspecifiedMatching -DOID:2018 hyperinsulinism oboInOwl:hasDbXref UMLS_CUI:C0020459 semapv:UnspecifiedMatching +DOID:2012 Nezelof syndrome oboInOwl:hasDbXref UMLS_CUI:C0152094 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref ICD10CM:E16.1 semapv:UnspecifiedMatching DOID:2018 hyperinsulinism oboInOwl:hasDbXref MESH:D006946 semapv:UnspecifiedMatching +DOID:2018 hyperinsulinism oboInOwl:hasDbXref UMLS_CUI:C0020459 semapv:UnspecifiedMatching +DOID:2021 placenta cancer oboInOwl:hasDbXref UMLS_CUI:C0153572 semapv:UnspecifiedMatching DOID:2021 placenta cancer oboInOwl:hasDbXref ICD10CM:C58 semapv:UnspecifiedMatching DOID:2021 placenta cancer oboInOwl:hasDbXref ICD9CM:181 semapv:UnspecifiedMatching DOID:2021 placenta cancer oboInOwl:hasDbXref NCI:C3555 semapv:UnspecifiedMatching -DOID:2021 placenta cancer oboInOwl:hasDbXref UMLS_CUI:C0153572 semapv:UnspecifiedMatching -DOID:2024 placental choriocarcinoma oboInOwl:hasDbXref NCI:C8893 semapv:UnspecifiedMatching DOID:2024 placental choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0855173 semapv:UnspecifiedMatching +DOID:2024 placental choriocarcinoma oboInOwl:hasDbXref NCI:C8893 semapv:UnspecifiedMatching DOID:2025 gestational choriocarcinoma oboInOwl:hasDbXref NCI:C4646 semapv:UnspecifiedMatching DOID:2025 gestational choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0349557 semapv:UnspecifiedMatching -DOID:203 exostosis oboInOwl:hasDbXref UMLS_CUI:C1442903 semapv:UnspecifiedMatching -DOID:203 exostosis oboInOwl:hasDbXref MESH:D005096 semapv:UnspecifiedMatching -DOID:203 exostosis oboInOwl:hasDbXref NCI:C3029 semapv:UnspecifiedMatching DOID:203 exostosis oboInOwl:hasDbXref ICD10CM:M27.8 semapv:UnspecifiedMatching DOID:203 exostosis oboInOwl:hasDbXref ICD9CM:726.91 semapv:UnspecifiedMatching +DOID:203 exostosis oboInOwl:hasDbXref MESH:D005096 semapv:UnspecifiedMatching +DOID:203 exostosis oboInOwl:hasDbXref NCI:C3029 semapv:UnspecifiedMatching +DOID:203 exostosis oboInOwl:hasDbXref UMLS_CUI:C1442903 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref ICD10CM:F41.9 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref MESH:D001008 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref NCI:C2878 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref OMIM:607834 semapv:UnspecifiedMatching DOID:2030 anxiety disorder oboInOwl:hasDbXref UMLS_CUI:C0003469 semapv:UnspecifiedMatching +DOID:2033 communication disorder oboInOwl:hasDbXref UMLS_CUI:C0009460 semapv:UnspecifiedMatching +DOID:2033 communication disorder oboInOwl:hasDbXref NCI:C2958 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref ICD10CM:F80.9 semapv:UnspecifiedMatching DOID:2033 communication disorder oboInOwl:hasDbXref MESH:D003147 semapv:UnspecifiedMatching -DOID:2033 communication disorder oboInOwl:hasDbXref NCI:C2958 semapv:UnspecifiedMatching -DOID:2033 communication disorder oboInOwl:hasDbXref UMLS_CUI:C0009460 semapv:UnspecifiedMatching -DOID:2034 encephalomalacia oboInOwl:hasDbXref NCI:C98920 semapv:UnspecifiedMatching DOID:2034 encephalomalacia oboInOwl:hasDbXref MESH:D004678 semapv:UnspecifiedMatching +DOID:2034 encephalomalacia oboInOwl:hasDbXref NCI:C98920 semapv:UnspecifiedMatching DOID:2034 encephalomalacia oboInOwl:hasDbXref UMLS_CUI:C0014068 semapv:UnspecifiedMatching -DOID:204 enthesopathy oboInOwl:hasDbXref UMLS_CUI:C0242490 semapv:UnspecifiedMatching -DOID:204 enthesopathy oboInOwl:hasDbXref MESH:D000070676 semapv:UnspecifiedMatching -DOID:204 enthesopathy skos:exactMatch MESH:D000070676 semapv:UnspecifiedMatching DOID:204 enthesopathy oboInOwl:hasDbXref ICD10CM:M77.9 semapv:UnspecifiedMatching DOID:204 enthesopathy oboInOwl:hasDbXref ICD9CM:726.90 semapv:UnspecifiedMatching +DOID:204 enthesopathy oboInOwl:hasDbXref MESH:D000070676 semapv:UnspecifiedMatching +DOID:204 enthesopathy oboInOwl:hasDbXref UMLS_CUI:C0242490 semapv:UnspecifiedMatching +DOID:204 enthesopathy skos:exactMatch MESH:D000070676 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref EFO:0004197 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref MESH:D006509 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref NCI:C3097 semapv:UnspecifiedMatching DOID:2043 hepatitis B oboInOwl:hasDbXref UMLS_CUI:C0019163 semapv:UnspecifiedMatching DOID:2044 drug-induced hepatitis oboInOwl:hasDbXref MESH:D056487 semapv:UnspecifiedMatching DOID:2044 drug-induced hepatitis oboInOwl:hasDbXref UMLS_CUI:C0524912 semapv:UnspecifiedMatching -DOID:2047 hepatitis D oboInOwl:hasDbXref MESH:D003699 semapv:UnspecifiedMatching DOID:2047 hepatitis D oboInOwl:hasDbXref UMLS_CUI:C0011226 semapv:UnspecifiedMatching -DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS_CUI:C0241910 semapv:UnspecifiedMatching -DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref NCI:C27778 semapv:UnspecifiedMatching -DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS_CUI:C1332355 semapv:UnspecifiedMatching -DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref ICD9CM:571.42 semapv:UnspecifiedMatching +DOID:2047 hepatitis D oboInOwl:hasDbXref MESH:D003699 semapv:UnspecifiedMatching DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref GARD:5871 semapv:UnspecifiedMatching +DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref ICD9CM:571.42 semapv:UnspecifiedMatching DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref MESH:D019693 semapv:UnspecifiedMatching -DOID:205 hyperostosis oboInOwl:hasDbXref UMLS_CUI:C0020492 semapv:UnspecifiedMatching -DOID:205 hyperostosis oboInOwl:hasDbXref NCI:C34712 semapv:UnspecifiedMatching +DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref NCI:C27778 semapv:UnspecifiedMatching +DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS_CUI:C0241910 semapv:UnspecifiedMatching +DOID:2048 autoimmune hepatitis oboInOwl:hasDbXref UMLS_CUI:C1332355 semapv:UnspecifiedMatching DOID:205 hyperostosis oboInOwl:hasDbXref ICD10CM:M89.3 semapv:UnspecifiedMatching DOID:205 hyperostosis oboInOwl:hasDbXref MESH:D015576 semapv:UnspecifiedMatching -DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J01.0 semapv:UnspecifiedMatching +DOID:205 hyperostosis oboInOwl:hasDbXref NCI:C34712 semapv:UnspecifiedMatching +DOID:205 hyperostosis oboInOwl:hasDbXref UMLS_CUI:C0020492 semapv:UnspecifiedMatching DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0155804 semapv:UnspecifiedMatching DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref ICD9CM:461.0 semapv:UnspecifiedMatching +DOID:2050 acute maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J01.0 semapv:UnspecifiedMatching +DOID:2051 maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0024959 semapv:UnspecifiedMatching +DOID:2051 maxillary sinusitis oboInOwl:hasDbXref NCI:C34809 semapv:UnspecifiedMatching DOID:2051 maxillary sinusitis oboInOwl:hasDbXref ICD10CM:J32.0 semapv:UnspecifiedMatching DOID:2051 maxillary sinusitis oboInOwl:hasDbXref MESH:D015523 semapv:UnspecifiedMatching -DOID:2051 maxillary sinusitis oboInOwl:hasDbXref NCI:C34809 semapv:UnspecifiedMatching -DOID:2051 maxillary sinusitis oboInOwl:hasDbXref UMLS_CUI:C0024959 semapv:UnspecifiedMatching DOID:2053 reactive cutaneous fibrous lesion oboInOwl:hasDbXref NCI:C27549 semapv:UnspecifiedMatching DOID:2053 reactive cutaneous fibrous lesion oboInOwl:hasDbXref UMLS_CUI:C1335666 semapv:UnspecifiedMatching -DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref UMLS_CUI:C0038436 semapv:UnspecifiedMatching -DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref NCI:C3389 semapv:UnspecifiedMatching -DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref MESH:D013313 semapv:UnspecifiedMatching DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref ICD10CM:F43.1 semapv:UnspecifiedMatching DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref ICD9CM:309.81 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref GARD:12313 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref NCI:C34444 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:114580 semapv:UnspecifiedMatching +DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref MESH:D013313 semapv:UnspecifiedMatching +DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref NCI:C3389 semapv:UnspecifiedMatching +DOID:2055 post-traumatic stress disorder oboInOwl:hasDbXref UMLS_CUI:C0038436 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:212050 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:607644 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613108 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613956 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 semapv:UnspecifiedMatching -DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref ORDO:1334 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:616445 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:615527 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613956 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref NCI:C34444 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:607644 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:114580 semapv:UnspecifiedMatching DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref UMLS_CUI:C0006845 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref MESH:D002178 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref GARD:12313 semapv:UnspecifiedMatching +DOID:2058 chronic mucocutaneous candidiasis oboInOwl:hasDbXref OMIM:613108 semapv:UnspecifiedMatching +DOID:2059 vulvar disease oboInOwl:hasDbXref NCI:C27631 semapv:UnspecifiedMatching DOID:2059 vulvar disease oboInOwl:hasDbXref UMLS_CUI:C0042994 semapv:UnspecifiedMatching DOID:2059 vulvar disease oboInOwl:hasDbXref MESH:D014845 semapv:UnspecifiedMatching -DOID:2059 vulvar disease oboInOwl:hasDbXref NCI:C27631 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ICD10CM:Q78.6 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref MESH:D005097 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref NCI:C5183 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133700 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching -DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ORDO:321 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:600209 semapv:UnspecifiedMatching DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref UMLS_CUI:C0015306 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133701 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref OMIM:133700 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref NCI:C5183 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref MESH:D005097 semapv:UnspecifiedMatching +DOID:206 hereditary multiple exostoses oboInOwl:hasDbXref ICD10CM:Q78.6 semapv:UnspecifiedMatching DOID:2060 vulvar nodular hidradenoma oboInOwl:hasDbXref NCI:C40312 semapv:UnspecifiedMatching DOID:2060 vulvar nodular hidradenoma oboInOwl:hasDbXref UMLS_CUI:C1520091 semapv:UnspecifiedMatching DOID:2064 vulvar syringoma oboInOwl:hasDbXref NCI:C40311 semapv:UnspecifiedMatching DOID:2064 vulvar syringoma oboInOwl:hasDbXref UMLS_CUI:C1520099 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref UMLS_CUI:C0206673 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref OMIM:186600 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref NCI:C3761 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref MESH:D018252 semapv:UnspecifiedMatching -DOID:2065 syringoma oboInOwl:hasDbXref ICDO:8407/0 semapv:UnspecifiedMatching DOID:2065 syringoma oboInOwl:hasDbXref GARD:10547 semapv:UnspecifiedMatching -DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref NCI:C8596 semapv:UnspecifiedMatching -DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C1274281 semapv:UnspecifiedMatching -DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref NCI:C6434 semapv:UnspecifiedMatching +DOID:2065 syringoma oboInOwl:hasDbXref ICDO:8407/0 semapv:UnspecifiedMatching +DOID:2065 syringoma oboInOwl:hasDbXref MESH:D018252 semapv:UnspecifiedMatching +DOID:2065 syringoma oboInOwl:hasDbXref NCI:C3761 semapv:UnspecifiedMatching +DOID:2065 syringoma oboInOwl:hasDbXref OMIM:186600 semapv:UnspecifiedMatching +DOID:2065 syringoma oboInOwl:hasDbXref UMLS_CUI:C0206673 semapv:UnspecifiedMatching +DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C1274281 semapv:UnspecifiedMatching +DOID:2066 vulvar angiokeratoma oboInOwl:hasDbXref NCI:C8596 semapv:UnspecifiedMatching +DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref NCI:C6434 semapv:UnspecifiedMatching DOID:2068 Bartholin's gland benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0220616 semapv:UnspecifiedMatching DOID:2071 vulvar squamous papilloma oboInOwl:hasDbXref NCI:C6376 semapv:UnspecifiedMatching DOID:2071 vulvar squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1336982 semapv:UnspecifiedMatching @@ -20170,118 +20201,118 @@ DOID:2072 vulvar squamous tumor oboInOwl:hasDbXref UMLS_CUI:C1520097 semapv:Unsp DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref ICD10CM:P78.0 semapv:UnspecifiedMatching DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref ICD9CM:777.6 semapv:UnspecifiedMatching DOID:2073 perinatal intestinal perforation oboInOwl:hasDbXref UMLS_CUI:C0159006 semapv:UnspecifiedMatching -DOID:2074 intestinal perforation oboInOwl:hasDbXref UMLS_CUI:C0021845 semapv:UnspecifiedMatching -DOID:2074 intestinal perforation oboInOwl:hasDbXref NCI:C39611 semapv:UnspecifiedMatching DOID:2074 intestinal perforation oboInOwl:hasDbXref ICD9CM:569.83 semapv:UnspecifiedMatching DOID:2074 intestinal perforation oboInOwl:hasDbXref MESH:D007416 semapv:UnspecifiedMatching +DOID:2074 intestinal perforation oboInOwl:hasDbXref NCI:C39611 semapv:UnspecifiedMatching +DOID:2074 intestinal perforation oboInOwl:hasDbXref UMLS_CUI:C0021845 semapv:UnspecifiedMatching DOID:2075 minor vestibular glands adenoma oboInOwl:hasDbXref NCI:C40301 semapv:UnspecifiedMatching DOID:2075 minor vestibular glands adenoma oboInOwl:hasDbXref UMLS_CUI:C1510791 semapv:UnspecifiedMatching -DOID:2076 vulvar glandular tumor oboInOwl:hasDbXref NCI:C40292 semapv:UnspecifiedMatching DOID:2076 vulvar glandular tumor oboInOwl:hasDbXref UMLS_CUI:C1520082 semapv:UnspecifiedMatching +DOID:2076 vulvar glandular tumor oboInOwl:hasDbXref NCI:C40292 semapv:UnspecifiedMatching DOID:2078 chondroid syringoma of the vulva oboInOwl:hasDbXref NCI:C40302 semapv:UnspecifiedMatching DOID:2078 chondroid syringoma of the vulva oboInOwl:hasDbXref UMLS_CUI:C1511091 semapv:UnspecifiedMatching DOID:2079 eccrine mixed tumor of skin oboInOwl:hasDbXref NCI:C4474 semapv:UnspecifiedMatching DOID:2079 eccrine mixed tumor of skin oboInOwl:hasDbXref UMLS_CUI:C0346026 semapv:UnspecifiedMatching DOID:2080 vulvar trichoepithelioma oboInOwl:hasDbXref NCI:C40314 semapv:UnspecifiedMatching DOID:2080 vulvar trichoepithelioma oboInOwl:hasDbXref UMLS_CUI:C1520100 semapv:UnspecifiedMatching -DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref UMLS_CUI:C0949134 semapv:UnspecifiedMatching DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref ICD9CM:564.02 semapv:UnspecifiedMatching DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref ICD10CM:K59.02 semapv:UnspecifiedMatching -DOID:2089 obsolete constipation oboInOwl:hasDbXref ICD10CM:K59.0 semapv:UnspecifiedMatching -DOID:2089 obsolete constipation oboInOwl:hasDbXref ICD9CM:564.0 semapv:UnspecifiedMatching -DOID:2089 obsolete constipation oboInOwl:hasDbXref MESH:D003248 semapv:UnspecifiedMatching +DOID:2088 obsolete outlet dysfunction constipation oboInOwl:hasDbXref UMLS_CUI:C0949134 semapv:UnspecifiedMatching DOID:2089 obsolete constipation oboInOwl:hasDbXref NCI:C37930 semapv:UnspecifiedMatching +DOID:2089 obsolete constipation oboInOwl:hasDbXref MESH:D003248 semapv:UnspecifiedMatching DOID:2089 obsolete constipation oboInOwl:hasDbXref UMLS_CUI:C0009806 semapv:UnspecifiedMatching +DOID:2089 obsolete constipation oboInOwl:hasDbXref ICD10CM:K59.0 semapv:UnspecifiedMatching +DOID:2089 obsolete constipation oboInOwl:hasDbXref ICD9CM:564.0 semapv:UnspecifiedMatching +DOID:2092 transient arthritis oboInOwl:hasDbXref UMLS_CUI:C0152083 semapv:UnspecifiedMatching +DOID:2092 transient arthritis oboInOwl:hasDbXref NCI:C35761 semapv:UnspecifiedMatching DOID:2092 transient arthritis oboInOwl:hasDbXref ICD10CM:M12.8 semapv:UnspecifiedMatching DOID:2092 transient arthritis oboInOwl:hasDbXref ICD9CM:716.4 semapv:UnspecifiedMatching -DOID:2092 transient arthritis oboInOwl:hasDbXref NCI:C35761 semapv:UnspecifiedMatching -DOID:2092 transient arthritis oboInOwl:hasDbXref UMLS_CUI:C0152083 semapv:UnspecifiedMatching DOID:2093 vulvar melanoma oboInOwl:hasDbXref NCI:C40329 semapv:UnspecifiedMatching DOID:2093 vulvar melanoma oboInOwl:hasDbXref UMLS_CUI:C0241989 semapv:UnspecifiedMatching -DOID:2095 sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1321904 semapv:UnspecifiedMatching -DOID:2095 sweat gland cancer oboInOwl:hasDbXref NCI:C4810 semapv:UnspecifiedMatching DOID:2095 sweat gland cancer oboInOwl:hasDbXref ICD10CM:C44 semapv:UnspecifiedMatching +DOID:2095 sweat gland cancer oboInOwl:hasDbXref NCI:C4810 semapv:UnspecifiedMatching +DOID:2095 sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1321904 semapv:UnspecifiedMatching DOID:2096 vulvar sarcoma oboInOwl:hasDbXref NCI:C40317 semapv:UnspecifiedMatching DOID:2096 vulvar sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238525 semapv:UnspecifiedMatching DOID:2097 vulval Paget's disease oboInOwl:hasDbXref NCI:C4027 semapv:UnspecifiedMatching DOID:2097 vulval Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1275217 semapv:UnspecifiedMatching DOID:2098 vulva adenocarcinoma oboInOwl:hasDbXref NCI:C6380 semapv:UnspecifiedMatching DOID:2098 vulva adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336975 semapv:UnspecifiedMatching -DOID:210 heel spur oboInOwl:hasDbXref ICD10CM:M77.3 semapv:UnspecifiedMatching -DOID:210 heel spur oboInOwl:hasDbXref ICD9CM:726.73 semapv:UnspecifiedMatching -DOID:210 heel spur oboInOwl:hasDbXref MESH:D036982 semapv:UnspecifiedMatching DOID:210 heel spur oboInOwl:hasDbXref UMLS_CUI:C0158322 semapv:UnspecifiedMatching +DOID:210 heel spur oboInOwl:hasDbXref MESH:D036982 semapv:UnspecifiedMatching +DOID:210 heel spur oboInOwl:hasDbXref ICD9CM:726.73 semapv:UnspecifiedMatching +DOID:210 heel spur oboInOwl:hasDbXref ICD10CM:M77.3 semapv:UnspecifiedMatching DOID:2101 vulva squamous cell carcinoma oboInOwl:hasDbXref NCI:C4052 semapv:UnspecifiedMatching DOID:2101 vulva squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280856 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref GARD:12301 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref ICD9CM:359.22 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref MESH:D009224 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref NCI:C84912 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref OMIM:160800 semapv:UnspecifiedMatching +DOID:2106 myotonia congenita oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref ORDO:614 semapv:UnspecifiedMatching DOID:2106 myotonia congenita oboInOwl:hasDbXref UMLS_CUI:C0027127 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref OMIM:160800 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref NCI:C84912 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref MESH:D009224 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref ICD9CM:359.22 semapv:UnspecifiedMatching -DOID:2106 myotonia congenita oboInOwl:hasDbXref GARD:12301 semapv:UnspecifiedMatching -DOID:2112 cystoisosporiasis oboInOwl:hasDbXref ICD10CM:A07.3 semapv:UnspecifiedMatching -DOID:2112 cystoisosporiasis oboInOwl:hasDbXref MESH:D021865 semapv:UnspecifiedMatching DOID:2112 cystoisosporiasis oboInOwl:hasDbXref NCI:C4076 semapv:UnspecifiedMatching DOID:2112 cystoisosporiasis oboInOwl:hasDbXref UMLS_CUI:C0311386 semapv:UnspecifiedMatching +DOID:2112 cystoisosporiasis oboInOwl:hasDbXref ICD10CM:A07.3 semapv:UnspecifiedMatching +DOID:2112 cystoisosporiasis oboInOwl:hasDbXref MESH:D021865 semapv:UnspecifiedMatching DOID:2113 coccidiosis oboInOwl:hasDbXref MESH:D003048 semapv:UnspecifiedMatching DOID:2113 coccidiosis oboInOwl:hasDbXref NCI:C34493 semapv:UnspecifiedMatching DOID:2113 coccidiosis oboInOwl:hasDbXref UMLS_CUI:C0009187 semapv:UnspecifiedMatching DOID:2115 B cell deficiency oboInOwl:hasDbXref ICD9CM:279.03 semapv:UnspecifiedMatching DOID:2115 B cell deficiency oboInOwl:hasDbXref UMLS_CUI:C0154276 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0016395 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref ORDO:2092 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching -DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref GARD:6457 semapv:UnspecifiedMatching +DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref MESH:D005489 semapv:UnspecifiedMatching DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref NCI:C84715 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref GARD:6317 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ICD9CM:757.31 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref NCI:C84683 semapv:UnspecifiedMatching -DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref OMIMPS:305100 semapv:UnspecifiedMatching +DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref OMIM:305600 semapv:UnspecifiedMatching +DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref ORDO:2092 semapv:UnspecifiedMatching +DOID:2120 focal dermal hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0016395 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ORDO:79373 semapv:UnspecifiedMatching DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref UMLS_CUI:C0013575 semapv:UnspecifiedMatching -DOID:2122 pneumonic tularemia oboInOwl:hasDbXref UMLS_CUI:C0339946 semapv:UnspecifiedMatching +DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref NCI:C84683 semapv:UnspecifiedMatching +DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref OMIMPS:305100 semapv:UnspecifiedMatching +DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref ICD9CM:757.31 semapv:UnspecifiedMatching +DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref GARD:6317 semapv:UnspecifiedMatching +DOID:2121 ectodermal dysplasia oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref ICD10CM:A21.2 semapv:UnspecifiedMatching DOID:2122 pneumonic tularemia oboInOwl:hasDbXref ICD9CM:021.2 semapv:UnspecifiedMatching -DOID:2123 tularemia oboInOwl:hasDbXref UMLS_CUI:C0029835 semapv:UnspecifiedMatching +DOID:2122 pneumonic tularemia oboInOwl:hasDbXref UMLS_CUI:C0339946 semapv:UnspecifiedMatching DOID:2123 tularemia oboInOwl:hasDbXref GARD:396 semapv:UnspecifiedMatching DOID:2123 tularemia oboInOwl:hasDbXref ICD9CM:021.8 semapv:UnspecifiedMatching +DOID:2123 tularemia oboInOwl:hasDbXref UMLS_CUI:C0029835 semapv:UnspecifiedMatching DOID:2127 brain germinoma oboInOwl:hasDbXref NCI:C6284 semapv:UnspecifiedMatching DOID:2127 brain germinoma oboInOwl:hasDbXref UMLS_CUI:C1332606 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICDO:9508/3 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref NCI:C6906 semapv:UnspecifiedMatching +DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS_CUI:C1266184 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ORDO:99966 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS_CUI:C1266184 semapv:UnspecifiedMatching +DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICDO:9508/3 semapv:UnspecifiedMatching +DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref NCI:C6906 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref NCI:C5154 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332607 semapv:UnspecifiedMatching DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref NCI:C5153 semapv:UnspecifiedMatching DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332892 semapv:UnspecifiedMatching +DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.2 semapv:UnspecifiedMatching +DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.2 semapv:UnspecifiedMatching DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref NCI:C5567 semapv:UnspecifiedMatching -DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263887 semapv:UnspecifiedMatching DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153636 semapv:UnspecifiedMatching -DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.2 semapv:UnspecifiedMatching -DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.2 semapv:UnspecifiedMatching +DOID:2135 temporal lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263887 semapv:UnspecifiedMatching DOID:2139 paraurethral gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C0341766 semapv:UnspecifiedMatching -DOID:214 teeth hard tissue disease oboInOwl:hasDbXref ICD10CM:K03.8 semapv:UnspecifiedMatching DOID:214 teeth hard tissue disease oboInOwl:hasDbXref ICD9CM:521.8 semapv:UnspecifiedMatching +DOID:214 teeth hard tissue disease oboInOwl:hasDbXref ICD10CM:K03.8 semapv:UnspecifiedMatching DOID:214 teeth hard tissue disease oboInOwl:hasDbXref UMLS_CUI:C0029770 semapv:UnspecifiedMatching -DOID:2140 urethral urothelial papilloma oboInOwl:hasDbXref NCI:C5061 semapv:UnspecifiedMatching DOID:2140 urethral urothelial papilloma oboInOwl:hasDbXref UMLS_CUI:C1519826 semapv:UnspecifiedMatching -DOID:2142 urethra leiomyoma oboInOwl:hasDbXref NCI:C6171 semapv:UnspecifiedMatching +DOID:2140 urethral urothelial papilloma oboInOwl:hasDbXref NCI:C5061 semapv:UnspecifiedMatching DOID:2142 urethra leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336888 semapv:UnspecifiedMatching +DOID:2142 urethra leiomyoma oboInOwl:hasDbXref NCI:C6171 semapv:UnspecifiedMatching DOID:2143 ovarian malignant mesothelioma oboInOwl:hasDbXref NCI:C40444 semapv:UnspecifiedMatching DOID:2143 ovarian malignant mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1518721 semapv:UnspecifiedMatching DOID:2145 malignant ovarian cyst oboInOwl:hasDbXref NCI:C3843 semapv:UnspecifiedMatching DOID:2145 malignant ovarian cyst oboInOwl:hasDbXref UMLS_CUI:C0235770 semapv:UnspecifiedMatching -DOID:2146 ovary sarcoma oboInOwl:hasDbXref UMLS_CUI:C0280746 semapv:UnspecifiedMatching DOID:2146 ovary sarcoma oboInOwl:hasDbXref NCI:C8267 semapv:UnspecifiedMatching +DOID:2146 ovary sarcoma oboInOwl:hasDbXref UMLS_CUI:C0280746 semapv:UnspecifiedMatching +DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref ICD10CM:A18.17 semapv:UnspecifiedMatching DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref ICD9CM:016.6 semapv:UnspecifiedMatching DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref UMLS_CUI:C0152828 semapv:UnspecifiedMatching -DOID:2148 tuberculous oophoritis oboInOwl:hasDbXref ICD10CM:A18.17 semapv:UnspecifiedMatching DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref MESH:D014401 semapv:UnspecifiedMatching DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041333 semapv:UnspecifiedMatching DOID:2149 urogenital tuberculosis oboInOwl:hasDbXref ICD10CM:A18.1 semapv:UnspecifiedMatching @@ -20294,15 +20325,15 @@ DOID:2152 ovary epithelial cancer oboInOwl:hasDbXref NCI:C4381 semapv:Unspecifie DOID:2152 ovary epithelial cancer oboInOwl:hasDbXref UMLS_CUI:C0341823 semapv:UnspecifiedMatching DOID:2153 ovarian Wilms' cancer oboInOwl:hasDbXref NCI:C40443 semapv:UnspecifiedMatching DOID:2153 ovarian Wilms' cancer oboInOwl:hasDbXref UMLS_CUI:C1518746 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C1333015 semapv:UnspecifiedMatching +DOID:2154 nephroblastoma oboInOwl:hasDbXref OMIM:194070 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C1332219 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C0027708 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref OMIM:194070 semapv:UnspecifiedMatching +DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C6180 semapv:UnspecifiedMatching +DOID:2154 nephroblastoma oboInOwl:hasDbXref UMLS_CUI:C1333015 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C27730 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref MESH:D009396 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref ICDO:8960/3 semapv:UnspecifiedMatching DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C3267 semapv:UnspecifiedMatching -DOID:2154 nephroblastoma oboInOwl:hasDbXref NCI:C6180 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref MESH:C562841 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref NCI:C4514 semapv:UnspecifiedMatching DOID:2155 malignant ovarian germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346180 semapv:UnspecifiedMatching @@ -20310,11 +20341,11 @@ DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref GARD:9330 semapv:Unspecifi DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref NCI:C3873 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching DOID:2156 ovarian germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0238324 semapv:UnspecifiedMatching -DOID:216 dental caries oboInOwl:hasDbXref MESH:D003731 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref UMLS_CUI:C1456145 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref UMLS_CUI:C0011334 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref NCI:C52593 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref ICD9CM:521.07 semapv:UnspecifiedMatching +DOID:216 dental caries oboInOwl:hasDbXref MESH:D003731 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref ICD10CM:K02.6 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref ICD10CM:K02 semapv:UnspecifiedMatching DOID:216 dental caries oboInOwl:hasDbXref EFO:0003819 semapv:UnspecifiedMatching @@ -20323,19 +20354,19 @@ DOID:2163 nasal cavity disease oboInOwl:hasDbXref NCI:C27102 semapv:UnspecifiedM DOID:2163 nasal cavity disease oboInOwl:hasDbXref UMLS_CUI:C0339820 semapv:UnspecifiedMatching DOID:217 enamel caries oboInOwl:hasDbXref ICD9CM:521.01 semapv:UnspecifiedMatching DOID:217 enamel caries oboInOwl:hasDbXref UMLS_CUI:C0266853 semapv:UnspecifiedMatching +DOID:2170 vaginitis oboInOwl:hasDbXref UMLS_CUI:C0042268 semapv:UnspecifiedMatching +DOID:2170 vaginitis oboInOwl:hasDbXref UMLS_CUI:C0042267 semapv:UnspecifiedMatching DOID:2170 vaginitis oboInOwl:hasDbXref ICD9CM:616.1 semapv:UnspecifiedMatching DOID:2170 vaginitis oboInOwl:hasDbXref MESH:D014627 semapv:UnspecifiedMatching DOID:2170 vaginitis oboInOwl:hasDbXref NCI:C26911 semapv:UnspecifiedMatching -DOID:2170 vaginitis oboInOwl:hasDbXref UMLS_CUI:C0042267 semapv:UnspecifiedMatching -DOID:2170 vaginitis oboInOwl:hasDbXref UMLS_CUI:C0042268 semapv:UnspecifiedMatching +DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref MESH:D005142 semapv:UnspecifiedMatching DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref NCI:C3031 semapv:UnspecifiedMatching DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0015424 semapv:UnspecifiedMatching -DOID:2173 eyelid benign neoplasm oboInOwl:hasDbXref MESH:D005142 semapv:UnspecifiedMatching -DOID:2174 ocular cancer oboInOwl:hasDbXref ICD9CM:190.8 semapv:UnspecifiedMatching -DOID:2174 ocular cancer oboInOwl:hasDbXref MESH:D005134 semapv:UnspecifiedMatching +DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS_CUI:C0153632 semapv:UnspecifiedMatching DOID:2174 ocular cancer oboInOwl:hasDbXref NCI:C3030 semapv:UnspecifiedMatching DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS_CUI:C0015414 semapv:UnspecifiedMatching -DOID:2174 ocular cancer oboInOwl:hasDbXref UMLS_CUI:C0153632 semapv:UnspecifiedMatching +DOID:2174 ocular cancer oboInOwl:hasDbXref MESH:D005134 semapv:UnspecifiedMatching +DOID:2174 ocular cancer oboInOwl:hasDbXref ICD9CM:190.8 semapv:UnspecifiedMatching DOID:2176 carbuncle oboInOwl:hasDbXref ICD9CM:680.9 semapv:UnspecifiedMatching DOID:2176 carbuncle oboInOwl:hasDbXref UMLS_CUI:C0007079 semapv:UnspecifiedMatching DOID:218 ascending colon cancer oboInOwl:hasDbXref ICD10CM:C18.2 semapv:UnspecifiedMatching @@ -20355,29 +20386,29 @@ DOID:219 colon cancer oboInOwl:hasDbXref ICD9CM:153 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref NCI:C9242 semapv:UnspecifiedMatching DOID:219 colon cancer oboInOwl:hasDbXref UMLS_CUI:C0007102 semapv:UnspecifiedMatching -DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref ICD9CM:380.01 semapv:UnspecifiedMatching DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref UMLS_CUI:C0155390 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015530 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 semapv:UnspecifiedMatching -DOID:2211 factor XIII deficiency oboInOwl:hasDbXref MESH:D005177 semapv:UnspecifiedMatching +DOID:221 acute perichondritis of pinna oboInOwl:hasDbXref ICD9CM:380.01 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref GARD:10766 semapv:UnspecifiedMatching +DOID:2211 factor XIII deficiency oboInOwl:hasDbXref MESH:D005177 semapv:UnspecifiedMatching DOID:2211 factor XIII deficiency oboInOwl:hasDbXref NCI:C98941 semapv:UnspecifiedMatching +DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613225 semapv:UnspecifiedMatching +DOID:2211 factor XIII deficiency oboInOwl:hasDbXref OMIM:613235 semapv:UnspecifiedMatching +DOID:2211 factor XIII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015530 semapv:UnspecifiedMatching +DOID:2213 hemorrhagic disease oboInOwl:hasDbXref UMLS_CUI:C0019087 semapv:UnspecifiedMatching +DOID:2213 hemorrhagic disease oboInOwl:hasDbXref MESH:D006474 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref ICD10CM:D69.9 semapv:UnspecifiedMatching DOID:2213 hemorrhagic disease oboInOwl:hasDbXref ICD9CM:287.9 semapv:UnspecifiedMatching -DOID:2213 hemorrhagic disease oboInOwl:hasDbXref MESH:D006474 semapv:UnspecifiedMatching -DOID:2213 hemorrhagic disease oboInOwl:hasDbXref UMLS_CUI:C0019087 semapv:UnspecifiedMatching -DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref UMLS_CUI:C0852077 semapv:UnspecifiedMatching -DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref ORDO:98429 semapv:UnspecifiedMatching DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref MESH:D025861 semapv:UnspecifiedMatching +DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref ORDO:98429 semapv:UnspecifiedMatching +DOID:2214 obsolete inherited blood coagulation disease oboInOwl:hasDbXref UMLS_CUI:C0852077 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref GARD:2238 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref ICD10CM:D68.2 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref MESH:D005168 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref NCI:C131631 semapv:UnspecifiedMatching DOID:2215 factor VII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015503 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref UMLS_CUI:C0015499 semapv:UnspecifiedMatching -DOID:2216 factor V deficiency oboInOwl:hasDbXref NCI:C98938 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref OMIM:227400 semapv:UnspecifiedMatching +DOID:2216 factor V deficiency oboInOwl:hasDbXref NCI:C98938 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref ICD10CM:D68.2 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref GARD:2237 semapv:UnspecifiedMatching DOID:2216 factor V deficiency oboInOwl:hasDbXref MESH:D005166 semapv:UnspecifiedMatching @@ -20389,29 +20420,29 @@ DOID:2217 Bernard-Soulier syndrome oboInOwl:hasDbXref UMLS_CUI:C0005129 semapv:U DOID:2218 blood platelet disease oboInOwl:hasDbXref MESH:D001791 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref NCI:C131634 semapv:UnspecifiedMatching DOID:2218 blood platelet disease oboInOwl:hasDbXref UMLS_CUI:C0005818 semapv:UnspecifiedMatching -DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ORDO:849 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref OMIM:273800 semapv:UnspecifiedMatching +DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ORDO:849 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref NCI:C61249 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref UMLS_CUI:C0040015 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref ICD10CM:D69.1 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref GARD:2478 semapv:UnspecifiedMatching DOID:2219 Glanzmann's thrombasthenia oboInOwl:hasDbXref MESH:D013915 semapv:UnspecifiedMatching -DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD10CM:H61.0 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD9CM:380.00 semapv:UnspecifiedMatching DOID:222 perichondritis of auricle oboInOwl:hasDbXref UMLS_CUI:C0155389 semapv:UnspecifiedMatching -DOID:2222 factor X deficiency oboInOwl:hasDbXref NCI:C131632 semapv:UnspecifiedMatching -DOID:2222 factor X deficiency oboInOwl:hasDbXref UMLS_CUI:C0015519 semapv:UnspecifiedMatching +DOID:222 perichondritis of auricle oboInOwl:hasDbXref ICD10CM:H61.0 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref GARD:6404 semapv:UnspecifiedMatching DOID:2222 factor X deficiency oboInOwl:hasDbXref MESH:D005171 semapv:UnspecifiedMatching +DOID:2222 factor X deficiency oboInOwl:hasDbXref NCI:C131632 semapv:UnspecifiedMatching +DOID:2222 factor X deficiency oboInOwl:hasDbXref UMLS_CUI:C0015519 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref GARD:5034 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref MESH:D010981 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref OMIM:185050 semapv:UnspecifiedMatching DOID:2223 platelet storage pool deficiency oboInOwl:hasDbXref UMLS_CUI:C0032197 semapv:UnspecifiedMatching +DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref UMLS_CUI:C0040028 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ORDO:71493 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ORDO:3318 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:614521 semapv:UnspecifiedMatching -DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:601977 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref OMIM:187950 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref MESH:D013920 semapv:UnspecifiedMatching DOID:2224 essential thrombocythemia oboInOwl:hasDbXref ICDO:9962/3 semapv:UnspecifiedMatching @@ -20421,52 +20452,52 @@ DOID:2224 essential thrombocythemia oboInOwl:hasDbXref GARD:6594 semapv:Unspecif DOID:2224 essential thrombocythemia oboInOwl:hasDbXref NCI:C3407 semapv:UnspecifiedMatching DOID:2225 obsolete megakaryocytic tumor oboInOwl:hasDbXref NCI:C7066 semapv:UnspecifiedMatching DOID:2225 obsolete megakaryocytic tumor oboInOwl:hasDbXref UMLS_CUI:C1334687 semapv:UnspecifiedMatching +DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref UMLS_CUI:C1292778 semapv:UnspecifiedMatching DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref ICD10CM:D47.1 semapv:UnspecifiedMatching DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref ICDO:9960/3 semapv:UnspecifiedMatching DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref NCI:C4345 semapv:UnspecifiedMatching -DOID:2226 myeloproliferative neoplasm oboInOwl:hasDbXref UMLS_CUI:C1292778 semapv:UnspecifiedMatching -DOID:2228 thrombocytosis oboInOwl:hasDbXref UMLS_CUI:C0836924 semapv:UnspecifiedMatching DOID:2228 thrombocytosis oboInOwl:hasDbXref NCI:C35530 semapv:UnspecifiedMatching +DOID:2228 thrombocytosis oboInOwl:hasDbXref UMLS_CUI:C0836924 semapv:UnspecifiedMatching DOID:2228 thrombocytosis oboInOwl:hasDbXref ICD10CM:D75.83 semapv:UnspecifiedMatching DOID:2228 thrombocytosis oboInOwl:hasDbXref MESH:D013922 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency oboInOwl:hasDbXref GARD:9670 semapv:UnspecifiedMatching +DOID:2229 factor XI deficiency oboInOwl:hasDbXref UMLS_CUI:C0015523 semapv:UnspecifiedMatching +DOID:2229 factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching +DOID:2229 factor XI deficiency oboInOwl:hasDbXref NCI:C84705 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref ICD10CM:D68.1 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref ICD9CM:286.2 semapv:UnspecifiedMatching +DOID:2229 factor XI deficiency oboInOwl:hasDbXref GARD:9670 semapv:UnspecifiedMatching DOID:2229 factor XI deficiency oboInOwl:hasDbXref MESH:D005173 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency oboInOwl:hasDbXref NCI:C84705 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency oboInOwl:hasDbXref OMIM:612416 semapv:UnspecifiedMatching -DOID:2229 factor XI deficiency oboInOwl:hasDbXref UMLS_CUI:C0015523 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref ICD9CM:435.0 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref MESH:D014715 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref NCI:C34413 semapv:UnspecifiedMatching DOID:223 basilar artery insufficiency oboInOwl:hasDbXref UMLS_CUI:C0004812 semapv:UnspecifiedMatching -DOID:2231 factor XII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015526 semapv:UnspecifiedMatching -DOID:2231 factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref ORDO:330 semapv:UnspecifiedMatching +DOID:2231 factor XII deficiency oboInOwl:hasDbXref OMIM:234000 semapv:UnspecifiedMatching +DOID:2231 factor XII deficiency oboInOwl:hasDbXref UMLS_CUI:C0015526 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref MESH:D005175 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref GARD:6558 semapv:UnspecifiedMatching DOID:2231 factor XII deficiency oboInOwl:hasDbXref NCI:C131740 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref MESH:D004828 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref NCI:C122812 semapv:UnspecifiedMatching DOID:2234 focal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014547 semapv:UnspecifiedMatching -DOID:2235 prothrombin deficiency oboInOwl:hasDbXref ORDO:325 semapv:UnspecifiedMatching -DOID:2235 prothrombin deficiency oboInOwl:hasDbXref UMLS_CUI:C0272317 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref NCI:C26799 semapv:UnspecifiedMatching DOID:2235 prothrombin deficiency oboInOwl:hasDbXref OMIM:613679 semapv:UnspecifiedMatching +DOID:2235 prothrombin deficiency oboInOwl:hasDbXref ORDO:325 semapv:UnspecifiedMatching +DOID:2235 prothrombin deficiency oboInOwl:hasDbXref UMLS_CUI:C0272317 semapv:UnspecifiedMatching +DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref UMLS_CUI:C0001733 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref GARD:5761 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref MESH:D000347 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref NCI:C98130 semapv:UnspecifiedMatching DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref OMIM:202400 semapv:UnspecifiedMatching -DOID:2236 congenital afibrinogenemia oboInOwl:hasDbXref UMLS_CUI:C0001733 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref UMLS_CUI:C0001308 semapv:UnspecifiedMatching +DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.41 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref UMLS_CUI:C0149519 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref UMLS_CUI:C0019189 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref NCI:C82978 semapv:UnspecifiedMatching -DOID:2237 hepatitis oboInOwl:hasDbXref ICD10CM:K73.9 semapv:UnspecifiedMatching -DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.41 semapv:UnspecifiedMatching -DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.4 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:570 semapv:UnspecifiedMatching +DOID:2237 hepatitis oboInOwl:hasDbXref ICD9CM:571.4 semapv:UnspecifiedMatching DOID:2237 hepatitis oboInOwl:hasDbXref MESH:D006521 semapv:UnspecifiedMatching +DOID:2237 hepatitis oboInOwl:hasDbXref ICD10CM:K73.9 semapv:UnspecifiedMatching DOID:2239 granulomatous hepatitis oboInOwl:hasDbXref NCI:C27015 semapv:UnspecifiedMatching DOID:2239 granulomatous hepatitis oboInOwl:hasDbXref UMLS_CUI:C0235369 semapv:UnspecifiedMatching DOID:224 transient cerebral ischemia oboInOwl:hasDbXref ICD10CM:G45.9 semapv:UnspecifiedMatching @@ -20487,28 +20518,29 @@ DOID:2251 hypertrophic elongation of cervix oboInOwl:hasDbXref UMLS_CUI:C0020561 DOID:2253 cervix disease oboInOwl:hasDbXref MESH:D002577 semapv:UnspecifiedMatching DOID:2253 cervix disease oboInOwl:hasDbXref NCI:C40241 semapv:UnspecifiedMatching DOID:2253 cervix disease oboInOwl:hasDbXref UMLS_CUI:C0007867 semapv:UnspecifiedMatching +DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref NCI:C84978 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref UMLS_CUI:C0029422 semapv:UnspecifiedMatching +DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref NCI:C34466 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref UMLS_CUI:C0008449 semapv:UnspecifiedMatching -DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref NCI:C84978 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref ICD9CM:756.4 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref ICD10CM:Q78.9 semapv:UnspecifiedMatching DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref MESH:D010009 semapv:UnspecifiedMatching -DOID:2256 osteochondrodysplasia oboInOwl:hasDbXref NCI:C34466 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref ICD10CM:M24.6 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref ICD9CM:718.5 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref MESH:D000844 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref NCI:C171941 semapv:UnspecifiedMatching DOID:227 ankylosis oboInOwl:hasDbXref UMLS_CUI:C0003090 semapv:UnspecifiedMatching DOID:227 ankylosis skos:exactMatch MESH:D000844 semapv:UnspecifiedMatching -DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref UMLS_CUI:C0700345 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref ICD10CM:B37.3 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref ICD9CM:112.1 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref MESH:D002181 semapv:UnspecifiedMatching DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref NCI:C2914 semapv:UnspecifiedMatching +DOID:2272 vulvovaginal candidiasis oboInOwl:hasDbXref UMLS_CUI:C0700345 semapv:UnspecifiedMatching DOID:2273 vulvovaginitis oboInOwl:hasDbXref UMLS_CUI:C0042998 semapv:UnspecifiedMatching DOID:2273 vulvovaginitis oboInOwl:hasDbXref NCI:C35131 semapv:UnspecifiedMatching -DOID:2273 vulvovaginitis oboInOwl:hasDbXref ICD10CM:N76.0 semapv:UnspecifiedMatching DOID:2273 vulvovaginitis oboInOwl:hasDbXref MESH:D014848 semapv:UnspecifiedMatching +DOID:2273 vulvovaginitis oboInOwl:hasDbXref ICD10CM:N76.0 semapv:UnspecifiedMatching +DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0031350 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref ICD10CM:J02 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref ICD9CM:462 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref ICD9CM:472 semapv:UnspecifiedMatching @@ -20520,30 +20552,29 @@ DOID:2275 pharyngitis oboInOwl:hasDbXref NCI:C26851 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref NCI:C34355 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0001344 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0031345 semapv:UnspecifiedMatching -DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0031350 semapv:UnspecifiedMatching DOID:2275 pharyngitis oboInOwl:hasDbXref UMLS_CUI:C0155824 semapv:UnspecifiedMatching -DOID:2277 gonadal disease oboInOwl:hasDbXref UMLS_CUI:C0018050 semapv:UnspecifiedMatching DOID:2277 gonadal disease oboInOwl:hasDbXref NCI:C26786 semapv:UnspecifiedMatching DOID:2277 gonadal disease oboInOwl:hasDbXref MESH:D006058 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref GARD:6658 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref ICD10CM:L73.2 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref MESH:D017497 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref NCI:C128429 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:142690 semapv:UnspecifiedMatching -DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613736 semapv:UnspecifiedMatching +DOID:2277 gonadal disease oboInOwl:hasDbXref UMLS_CUI:C0018050 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613737 semapv:UnspecifiedMatching DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref UMLS_CUI:C0162836 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:613736 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref OMIM:142690 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref NCI:C128429 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref MESH:D017497 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref ICD10CM:L73.2 semapv:UnspecifiedMatching +DOID:2280 hidradenitis suppurativa oboInOwl:hasDbXref GARD:6658 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref ICD9CM:705.83 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref MESH:D016575 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref NCI:C112190 semapv:UnspecifiedMatching DOID:2282 hidradenitis oboInOwl:hasDbXref UMLS_CUI:C0085160 semapv:UnspecifiedMatching -DOID:2283 keratopathy oboInOwl:hasDbXref UMLS_CUI:C0235270 semapv:UnspecifiedMatching DOID:2283 keratopathy oboInOwl:hasDbXref NCI:C27012 semapv:UnspecifiedMatching +DOID:2283 keratopathy oboInOwl:hasDbXref UMLS_CUI:C0235270 semapv:UnspecifiedMatching +DOID:2286 capillary lymphangioma oboInOwl:hasDbXref ICDO:9171/0 semapv:UnspecifiedMatching DOID:2286 capillary lymphangioma oboInOwl:hasDbXref NCI:C27509 semapv:UnspecifiedMatching DOID:2286 capillary lymphangioma oboInOwl:hasDbXref UMLS_CUI:C1333176 semapv:UnspecifiedMatching -DOID:2286 capillary lymphangioma oboInOwl:hasDbXref ICDO:9171/0 semapv:UnspecifiedMatching -DOID:229 female reproductive system disease oboInOwl:hasDbXref MESH:D005831 semapv:UnspecifiedMatching DOID:229 female reproductive system disease oboInOwl:hasDbXref UMLS_CUI:C0017411 semapv:UnspecifiedMatching +DOID:229 female reproductive system disease oboInOwl:hasDbXref MESH:D005831 semapv:UnspecifiedMatching DOID:229 female reproductive system disease oboInOwl:hasDbXref ICD9CM:629.9 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref GARD:7881 semapv:UnspecifiedMatching DOID:2297 leptospirosis oboInOwl:hasDbXref ICD10CM:A27 semapv:UnspecifiedMatching @@ -20557,11 +20588,11 @@ DOID:2297 leptospirosis oboInOwl:hasDbXref UMLS_CUI:C0023364 semapv:UnspecifiedM DOID:2297 leptospirosis oboInOwl:hasDbXref UMLS_CUI:C0043102 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref UMLS_CUI:C0154682 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ORDO:35689 semapv:UnspecifiedMatching -DOID:230 lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref NCI:C129933 semapv:UnspecifiedMatching -DOID:230 lateral sclerosis oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching +DOID:230 lateral sclerosis oboInOwl:hasDbXref OMIM:611637 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ICD9CM:335.24 semapv:UnspecifiedMatching DOID:230 lateral sclerosis oboInOwl:hasDbXref ICD10CM:G12.23 semapv:UnspecifiedMatching +DOID:230 lateral sclerosis oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref ICD10CM:M43.0 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref MESH:D013169 semapv:UnspecifiedMatching DOID:2300 spondylolysis oboInOwl:hasDbXref NCI:C35034 semapv:UnspecifiedMatching @@ -20572,8 +20603,8 @@ DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref ICD10CM:F98.4 semapv: DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref ICD9CM:307.3 semapv:UnspecifiedMatching DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref MESH:D019956 semapv:UnspecifiedMatching DOID:2303 stereotypic movement disorder oboInOwl:hasDbXref UMLS_CUI:C0038273 semapv:UnspecifiedMatching -DOID:231 motor neuron disease oboInOwl:hasDbXref UMLS_CUI:C0085084 semapv:UnspecifiedMatching DOID:231 motor neuron disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching +DOID:231 motor neuron disease oboInOwl:hasDbXref UMLS_CUI:C0085084 semapv:UnspecifiedMatching DOID:231 motor neuron disease oboInOwl:hasDbXref ICD9CM:335.2 semapv:UnspecifiedMatching DOID:231 motor neuron disease oboInOwl:hasDbXref ICD10CM:G12.2 semapv:UnspecifiedMatching DOID:2312 nocardiosis oboInOwl:hasDbXref GARD:7210 semapv:UnspecifiedMatching @@ -20589,54 +20620,54 @@ DOID:2316 brain ischemia oboInOwl:hasDbXref UMLS_CUI:C0007786 semapv:Unspecified DOID:2320 obstructive lung disease oboInOwl:hasDbXref MESH:D008173 semapv:UnspecifiedMatching DOID:2320 obstructive lung disease oboInOwl:hasDbXref UMLS_CUI:C0600260 semapv:UnspecifiedMatching DOID:2326 gastroenteritis skos:exactMatch MESH:D005759 semapv:UnspecifiedMatching +DOID:2326 gastroenteritis oboInOwl:hasDbXref NCI:C34632 semapv:UnspecifiedMatching DOID:2326 gastroenteritis oboInOwl:hasDbXref UMLS_CUI:C0017160 semapv:UnspecifiedMatching -DOID:2326 gastroenteritis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:2326 gastroenteritis oboInOwl:hasDbXref MESH:D005759 semapv:UnspecifiedMatching -DOID:2326 gastroenteritis oboInOwl:hasDbXref NCI:C34632 semapv:UnspecifiedMatching +DOID:2326 gastroenteritis oboInOwl:hasDbXref ICD10CM:K52.9 semapv:UnspecifiedMatching DOID:2327 viral gastritis oboInOwl:hasDbXref NCI:C27184 semapv:UnspecifiedMatching DOID:2327 viral gastritis oboInOwl:hasDbXref UMLS_CUI:C0563238 semapv:UnspecifiedMatching -DOID:2338 mandibular cancer oboInOwl:hasDbXref ICD10CM:C41.1 semapv:UnspecifiedMatching -DOID:2338 mandibular cancer oboInOwl:hasDbXref ICD9CM:170.1 semapv:UnspecifiedMatching -DOID:2338 mandibular cancer oboInOwl:hasDbXref MESH:D008339 semapv:UnspecifiedMatching +DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS_CUI:C0153511 semapv:UnspecifiedMatching DOID:2338 mandibular cancer oboInOwl:hasDbXref NCI:C35178 semapv:UnspecifiedMatching DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS_CUI:C0024694 semapv:UnspecifiedMatching -DOID:2338 mandibular cancer oboInOwl:hasDbXref UMLS_CUI:C0153511 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome oboInOwl:hasDbXref OMIM:123500 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome oboInOwl:hasDbXref NCI:C84653 semapv:UnspecifiedMatching +DOID:2338 mandibular cancer oboInOwl:hasDbXref ICD9CM:170.1 semapv:UnspecifiedMatching +DOID:2338 mandibular cancer oboInOwl:hasDbXref ICD10CM:C41.1 semapv:UnspecifiedMatching +DOID:2338 mandibular cancer oboInOwl:hasDbXref MESH:D008339 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref UMLS_CUI:C0010273 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome oboInOwl:hasDbXref ICD10CM:Q75.1 semapv:UnspecifiedMatching -DOID:2339 Crouzon syndrome oboInOwl:hasDbXref MESH:D003394 semapv:UnspecifiedMatching DOID:2339 Crouzon syndrome oboInOwl:hasDbXref GARD:6206 semapv:UnspecifiedMatching +DOID:2339 Crouzon syndrome oboInOwl:hasDbXref MESH:D003394 semapv:UnspecifiedMatching +DOID:2339 Crouzon syndrome oboInOwl:hasDbXref NCI:C84653 semapv:UnspecifiedMatching +DOID:2339 Crouzon syndrome oboInOwl:hasDbXref OMIM:123500 semapv:UnspecifiedMatching +DOID:2339 Crouzon syndrome oboInOwl:hasDbXref ICD10CM:Q75.1 semapv:UnspecifiedMatching +DOID:234 colon adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0338106 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching DOID:234 colon adenocarcinoma oboInOwl:hasDbXref NCI:C4349 semapv:UnspecifiedMatching -DOID:234 colon adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0338106 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref UMLS_CUI:C0010278 semapv:UnspecifiedMatching +DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching +DOID:2340 craniosynostosis oboInOwl:hasDbXref ORDO:1531 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:604757 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:600593 semapv:UnspecifiedMatching -DOID:2340 craniosynostosis oboInOwl:hasDbXref ORDO:1531 semapv:UnspecifiedMatching +DOID:2340 craniosynostosis oboInOwl:hasDbXref UMLS_CUI:C0010278 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:123100 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref NCI:C84655 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref MESH:D003398 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref ICD10CM:Q75.0 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref GARD:6209 semapv:UnspecifiedMatching DOID:2340 craniosynostosis oboInOwl:hasDbXref OMIM:182212 semapv:UnspecifiedMatching +DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0154254 semapv:UnspecifiedMatching +DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref NCI:C35885 semapv:UnspecifiedMatching DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref ICD10CM:D89.0 semapv:UnspecifiedMatching DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref ICD9CM:273.0 semapv:UnspecifiedMatching -DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref NCI:C35885 semapv:UnspecifiedMatching -DOID:2344 polyclonal hypergammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0154254 semapv:UnspecifiedMatching -DOID:2345 plasma protein metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0029594 semapv:UnspecifiedMatching DOID:2345 plasma protein metabolism disease oboInOwl:hasDbXref ICD9CM:273.8 semapv:UnspecifiedMatching +DOID:2345 plasma protein metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0029594 semapv:UnspecifiedMatching DOID:2346 monoclonal paraproteinemia oboInOwl:hasDbXref ICD9CM:273.1 semapv:UnspecifiedMatching DOID:2346 monoclonal paraproteinemia oboInOwl:hasDbXref UMLS_CUI:C0026471 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref ICD10CM:I70.91 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref ICD9CM:440.9 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref NCI:C35767 semapv:UnspecifiedMatching DOID:2347 generalized atherosclerosis oboInOwl:hasDbXref UMLS_CUI:C0017327 semapv:UnspecifiedMatching -DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS_CUI:C0004153 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref NCI:C35768 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS_CUI:C3665365 semapv:UnspecifiedMatching +DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref UMLS_CUI:C0004153 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref MESH:D050197 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref ICD9CM:440 semapv:UnspecifiedMatching DOID:2348 arteriosclerotic cardiovascular disease oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching @@ -20646,124 +20677,124 @@ DOID:2349 arteriosclerosis oboInOwl:hasDbXref MESH:D001161 semapv:UnspecifiedMat DOID:2349 arteriosclerosis oboInOwl:hasDbXref NCI:C34398 semapv:UnspecifiedMatching DOID:2349 arteriosclerosis oboInOwl:hasDbXref UMLS_CUI:C0003850 semapv:UnspecifiedMatching DOID:235 colonic benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0009375 semapv:UnspecifiedMatching -DOID:235 colonic benign neoplasm oboInOwl:hasDbXref NCI:C2953 semapv:UnspecifiedMatching DOID:235 colonic benign neoplasm oboInOwl:hasDbXref MESH:D003110 semapv:UnspecifiedMatching -DOID:2351 iron metabolism disease oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching +DOID:235 colonic benign neoplasm oboInOwl:hasDbXref NCI:C2953 semapv:UnspecifiedMatching DOID:2351 iron metabolism disease oboInOwl:hasDbXref ICD9CM:275.0 semapv:UnspecifiedMatching DOID:2351 iron metabolism disease oboInOwl:hasDbXref MESH:D019189 semapv:UnspecifiedMatching +DOID:2351 iron metabolism disease oboInOwl:hasDbXref ICD10CM:E83.1 semapv:UnspecifiedMatching DOID:2351 iron metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0012715 semapv:UnspecifiedMatching +DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIMPS:235200 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref UMLS_CUI:C0018995 semapv:UnspecifiedMatching +DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref ORDO:139498 semapv:UnspecifiedMatching -DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIMPS:235200 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref MESH:D006432 semapv:UnspecifiedMatching -DOID:2352 hemochromatosis oboInOwl:hasDbXref NCI:C82892 semapv:UnspecifiedMatching DOID:2352 hemochromatosis oboInOwl:hasDbXref ICD10CM:E83.11 semapv:UnspecifiedMatching -DOID:2352 hemochromatosis oboInOwl:hasDbXref OMIM:231100 semapv:UnspecifiedMatching +DOID:2352 hemochromatosis oboInOwl:hasDbXref NCI:C82892 semapv:UnspecifiedMatching DOID:2354 myelophthisic anemia oboInOwl:hasDbXref ICD10CM:D61.82 semapv:UnspecifiedMatching DOID:2354 myelophthisic anemia oboInOwl:hasDbXref MESH:D000750 semapv:UnspecifiedMatching DOID:2354 myelophthisic anemia oboInOwl:hasDbXref UMLS_CUI:C0002890 semapv:UnspecifiedMatching -DOID:2355 anemia skos:exactMatch MESH:D000740 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref EFO:0004272 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref ICD10CM:D64.9 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref ICD9CM:285.9 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref MESH:D000740 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref NCI:C2869 semapv:UnspecifiedMatching DOID:2355 anemia oboInOwl:hasDbXref UMLS_CUI:C0002871 semapv:UnspecifiedMatching -DOID:2361 macrocytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002886 semapv:UnspecifiedMatching -DOID:2361 macrocytic anemia oboInOwl:hasDbXref NCI:C34381 semapv:UnspecifiedMatching +DOID:2355 anemia skos:exactMatch MESH:D000740 semapv:UnspecifiedMatching DOID:2361 macrocytic anemia oboInOwl:hasDbXref MESH:D000748 semapv:UnspecifiedMatching +DOID:2361 macrocytic anemia oboInOwl:hasDbXref NCI:C34381 semapv:UnspecifiedMatching +DOID:2361 macrocytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002886 semapv:UnspecifiedMatching +DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref UMLS_CUI:C0032807 semapv:UnspecifiedMatching +DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref MESH:D011186 semapv:UnspecifiedMatching DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref ICD10CM:I87.0 semapv:UnspecifiedMatching DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref ICD9CM:459.1 semapv:UnspecifiedMatching -DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref MESH:D011186 semapv:UnspecifiedMatching -DOID:2364 post-thrombotic syndrome oboInOwl:hasDbXref UMLS_CUI:C0032807 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref GARD:9959 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref ICD10CM:A92.31 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref ICD9CM:066.41 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching DOID:2365 West Nile encephalitis oboInOwl:hasDbXref UMLS_CUI:C0751583 semapv:UnspecifiedMatching -DOID:2366 West Nile fever oboInOwl:hasDbXref UMLS_CUI:C0043124 semapv:UnspecifiedMatching -DOID:2366 West Nile fever oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching DOID:2366 West Nile fever oboInOwl:hasDbXref ICD10CM:A92.3 semapv:UnspecifiedMatching DOID:2366 West Nile fever oboInOwl:hasDbXref ICD9CM:066.4 semapv:UnspecifiedMatching +DOID:2366 West Nile fever oboInOwl:hasDbXref MESH:D014901 semapv:UnspecifiedMatching +DOID:2366 West Nile fever oboInOwl:hasDbXref UMLS_CUI:C0043124 semapv:UnspecifiedMatching DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref MESH:D019150 semapv:UnspecifiedMatching DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref NCI:C161542 semapv:UnspecifiedMatching DOID:2367 neuroaxonal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0338473 semapv:UnspecifiedMatching -DOID:2368 gangliosidosis oboInOwl:hasDbXref GARD:12510 semapv:UnspecifiedMatching +DOID:2368 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0017083 semapv:UnspecifiedMatching +DOID:2368 gangliosidosis oboInOwl:hasDbXref ORDO:309144 semapv:UnspecifiedMatching DOID:2368 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.10 semapv:UnspecifiedMatching +DOID:2368 gangliosidosis oboInOwl:hasDbXref GARD:12510 semapv:UnspecifiedMatching DOID:2368 gangliosidosis oboInOwl:hasDbXref MESH:D005733 semapv:UnspecifiedMatching -DOID:2368 gangliosidosis oboInOwl:hasDbXref ORDO:309144 semapv:UnspecifiedMatching -DOID:2368 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0017083 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref GARD:6621 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD10CM:D58.1 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD9CM:282.1 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref MESH:D004612 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref NCI:C35882 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref OMIM:130600 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ORDO:288 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref OMIM:611804 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref NCI:C35882 semapv:UnspecifiedMatching +DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ORDO:288 semapv:UnspecifiedMatching DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref UMLS_CUI:C0013902 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD9CM:282.1 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref GARD:6621 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref MESH:D004612 semapv:UnspecifiedMatching -DOID:2373 hereditary elliptocytosis oboInOwl:hasDbXref ICD10CM:D58.1 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref EFO:0003885 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref GARD:10255 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD10CM:G35 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD9CM:340 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref NCI:C3243 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612594 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612595 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612596 semapv:UnspecifiedMatching -DOID:2377 multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0026769 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis skos:exactMatch MESH:D009103 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0026769 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612596 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612595 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref OMIM:612594 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD9CM:340 semapv:UnspecifiedMatching DOID:2377 multiple sclerosis oboInOwl:hasDbXref MESH:D009103 semapv:UnspecifiedMatching -DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0751967 semapv:UnspecifiedMatching -DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref NCI:C165675 semapv:UnspecifiedMatching -DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref MESH:D020529 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref ICD10CM:G35 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref GARD:10255 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref EFO:0003885 semapv:UnspecifiedMatching +DOID:2377 multiple sclerosis oboInOwl:hasDbXref NCI:C3243 semapv:UnspecifiedMatching DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref EFO:0003929 semapv:UnspecifiedMatching +DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref MESH:D020529 semapv:UnspecifiedMatching +DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref NCI:C165675 semapv:UnspecifiedMatching +DOID:2378 relapsing-remitting multiple sclerosis oboInOwl:hasDbXref UMLS_CUI:C0751967 semapv:UnspecifiedMatching DOID:238 pupil disease oboInOwl:hasDbXref MESH:D011681 semapv:UnspecifiedMatching DOID:238 pupil disease oboInOwl:hasDbXref UMLS_CUI:C0034124 semapv:UnspecifiedMatching -DOID:2382 kernicterus oboInOwl:hasDbXref GARD:6830 semapv:UnspecifiedMatching -DOID:2382 kernicterus oboInOwl:hasDbXref ICD10CM:P57 semapv:UnspecifiedMatching -DOID:2382 kernicterus oboInOwl:hasDbXref MESH:D007647 semapv:UnspecifiedMatching DOID:2382 kernicterus oboInOwl:hasDbXref NCI:C84799 semapv:UnspecifiedMatching DOID:2382 kernicterus oboInOwl:hasDbXref UMLS_CUI:C0022610 semapv:UnspecifiedMatching +DOID:2382 kernicterus oboInOwl:hasDbXref MESH:D007647 semapv:UnspecifiedMatching +DOID:2382 kernicterus oboInOwl:hasDbXref GARD:6830 semapv:UnspecifiedMatching +DOID:2382 kernicterus oboInOwl:hasDbXref ICD10CM:P57 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref ICD10CM:P59.9 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref MESH:D007567 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref NCI:C99246 semapv:UnspecifiedMatching DOID:2383 neonatal jaundice oboInOwl:hasDbXref UMLS_CUI:C0022353 semapv:UnspecifiedMatching -DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0043121 semapv:UnspecifiedMatching DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref ICD10CM:E51.2 semapv:UnspecifiedMatching DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref MESH:D014899 semapv:UnspecifiedMatching -DOID:2388 renal artery disease oboInOwl:hasDbXref NCI:C35338 semapv:UnspecifiedMatching +DOID:2384 Wernicke encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0043121 semapv:UnspecifiedMatching DOID:2388 renal artery disease oboInOwl:hasDbXref UMLS_CUI:C0268790 semapv:UnspecifiedMatching +DOID:2388 renal artery disease oboInOwl:hasDbXref NCI:C35338 semapv:UnspecifiedMatching DOID:2388 renal artery disease oboInOwl:hasDbXref ICD9CM:593.81 semapv:UnspecifiedMatching DOID:2392 glandular cystitis oboInOwl:hasDbXref NCI:C39860 semapv:UnspecifiedMatching DOID:2392 glandular cystitis oboInOwl:hasDbXref UMLS_CUI:C0268837 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C1299247 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C1140680 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C0919267 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ORDO:213517 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ORDO:213500 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:607893 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:167000 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C1140680 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref NCI:C4984 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref MESH:D010051 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref ICD9CM:183.0 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref NCI:C7431 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref NCI:C4984 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref ICD10CM:C56 semapv:UnspecifiedMatching DOID:2394 ovarian cancer oboInOwl:hasDbXref GARD:7295 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref UMLS_CUI:C1299247 semapv:UnspecifiedMatching -DOID:2394 ovarian cancer oboInOwl:hasDbXref NCI:C7431 semapv:UnspecifiedMatching -DOID:240 iris disease oboInOwl:hasDbXref UMLS_CUI:C0022078 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref OMIM:167000 semapv:UnspecifiedMatching +DOID:2394 ovarian cancer oboInOwl:hasDbXref ICD9CM:183.0 semapv:UnspecifiedMatching DOID:240 iris disease oboInOwl:hasDbXref MESH:D007499 semapv:UnspecifiedMatching DOID:240 iris disease oboInOwl:hasDbXref NCI:C34737 semapv:UnspecifiedMatching -DOID:2401 clitoris cancer oboInOwl:hasDbXref ICD10CM:C51.2 semapv:UnspecifiedMatching -DOID:2401 clitoris cancer oboInOwl:hasDbXref ICD9CM:184.3 semapv:UnspecifiedMatching -DOID:2401 clitoris cancer oboInOwl:hasDbXref NCI:C3557 semapv:UnspecifiedMatching +DOID:240 iris disease oboInOwl:hasDbXref UMLS_CUI:C0022078 semapv:UnspecifiedMatching +DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS_CUI:C1333070 semapv:UnspecifiedMatching DOID:2401 clitoris cancer oboInOwl:hasDbXref NCI:C9362 semapv:UnspecifiedMatching DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS_CUI:C0153589 semapv:UnspecifiedMatching -DOID:2401 clitoris cancer oboInOwl:hasDbXref UMLS_CUI:C1333070 semapv:UnspecifiedMatching -DOID:2409 rhinosporidiosis oboInOwl:hasDbXref MESH:D012227 semapv:UnspecifiedMatching +DOID:2401 clitoris cancer oboInOwl:hasDbXref NCI:C3557 semapv:UnspecifiedMatching +DOID:2401 clitoris cancer oboInOwl:hasDbXref ICD10CM:C51.2 semapv:UnspecifiedMatching +DOID:2401 clitoris cancer oboInOwl:hasDbXref ICD9CM:184.3 semapv:UnspecifiedMatching DOID:2409 rhinosporidiosis oboInOwl:hasDbXref ICD10CM:B48.1 semapv:UnspecifiedMatching DOID:2409 rhinosporidiosis oboInOwl:hasDbXref ICD9CM:117.0 semapv:UnspecifiedMatching +DOID:2409 rhinosporidiosis oboInOwl:hasDbXref MESH:D012227 semapv:UnspecifiedMatching DOID:2409 rhinosporidiosis oboInOwl:hasDbXref UMLS_CUI:C0035469 semapv:UnspecifiedMatching -DOID:2410 skin granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C0346060 semapv:UnspecifiedMatching DOID:2410 skin granular cell tumor oboInOwl:hasDbXref NCI:C5617 semapv:UnspecifiedMatching +DOID:2410 skin granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C0346060 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C0085167 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref NCI:C3474 semapv:UnspecifiedMatching DOID:2411 granular cell tumor oboInOwl:hasDbXref GARD:9618 semapv:UnspecifiedMatching @@ -20771,48 +20802,48 @@ DOID:2411 granular cell tumor oboInOwl:hasDbXref ICDO:9580/0 semapv:UnspecifiedM DOID:2411 granular cell tumor oboInOwl:hasDbXref MESH:D016586 semapv:UnspecifiedMatching DOID:2425 cutaneous ganglioneuroma oboInOwl:hasDbXref NCI:C4481 semapv:UnspecifiedMatching DOID:2425 cutaneous ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C0346063 semapv:UnspecifiedMatching +DOID:2426 gangliocytoma oboInOwl:hasDbXref NCI:C6934 semapv:UnspecifiedMatching +DOID:2426 gangliocytoma oboInOwl:hasDbXref MESH:D005729 semapv:UnspecifiedMatching DOID:2426 gangliocytoma oboInOwl:hasDbXref GARD:10638 semapv:UnspecifiedMatching DOID:2426 gangliocytoma oboInOwl:hasDbXref ICDO:9492/0 semapv:UnspecifiedMatching -DOID:2426 gangliocytoma oboInOwl:hasDbXref MESH:D005729 semapv:UnspecifiedMatching -DOID:2426 gangliocytoma oboInOwl:hasDbXref NCI:C6934 semapv:UnspecifiedMatching DOID:2430 skin glomus tumor oboInOwl:hasDbXref NCI:C4491 semapv:UnspecifiedMatching DOID:2430 skin glomus tumor oboInOwl:hasDbXref UMLS_CUI:C0346083 semapv:UnspecifiedMatching -DOID:2431 glomus tumor oboInOwl:hasDbXref NCI:C3060 semapv:UnspecifiedMatching -DOID:2431 glomus tumor oboInOwl:hasDbXref UMLS_CUI:C0017653 semapv:UnspecifiedMatching DOID:2431 glomus tumor oboInOwl:hasDbXref ICDO:8711/0 semapv:UnspecifiedMatching DOID:2431 glomus tumor oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching +DOID:2431 glomus tumor oboInOwl:hasDbXref NCI:C3060 semapv:UnspecifiedMatching +DOID:2431 glomus tumor oboInOwl:hasDbXref UMLS_CUI:C0017653 semapv:UnspecifiedMatching DOID:2433 epidermal appendage tumor oboInOwl:hasDbXref NCI:C4463 semapv:UnspecifiedMatching DOID:2433 epidermal appendage tumor oboInOwl:hasDbXref UMLS_CUI:C0345988 semapv:UnspecifiedMatching DOID:2435 skin glomangioma oboInOwl:hasDbXref NCI:C6750 semapv:UnspecifiedMatching DOID:2435 skin glomangioma oboInOwl:hasDbXref UMLS_CUI:C1275226 semapv:UnspecifiedMatching -DOID:2436 glomangioma oboInOwl:hasDbXref ICDO:8712/0 semapv:UnspecifiedMatching -DOID:2436 glomangioma oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching -DOID:2436 glomangioma oboInOwl:hasDbXref NCI:C4222 semapv:UnspecifiedMatching DOID:2436 glomangioma oboInOwl:hasDbXref UMLS_CUI:C0334421 semapv:UnspecifiedMatching +DOID:2436 glomangioma oboInOwl:hasDbXref NCI:C4222 semapv:UnspecifiedMatching +DOID:2436 glomangioma oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching +DOID:2436 glomangioma oboInOwl:hasDbXref ICDO:8712/0 semapv:UnspecifiedMatching DOID:2438 dermis tumor oboInOwl:hasDbXref NCI:C4475 semapv:UnspecifiedMatching DOID:2438 dermis tumor oboInOwl:hasDbXref UMLS_CUI:C0346041 semapv:UnspecifiedMatching -DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333646 semapv:UnspecifiedMatching DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6067 semapv:UnspecifiedMatching +DOID:2441 frontal sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333646 semapv:UnspecifiedMatching +DOID:2444 hyperpituitarism oboInOwl:hasDbXref MESH:D006964 semapv:UnspecifiedMatching DOID:2444 hyperpituitarism oboInOwl:hasDbXref UMLS_CUI:C0020506 semapv:UnspecifiedMatching DOID:2444 hyperpituitarism skos:exactMatch MESH:D006964 semapv:UnspecifiedMatching -DOID:2444 hyperpituitarism oboInOwl:hasDbXref MESH:D006964 semapv:UnspecifiedMatching -DOID:2449 acromegaly oboInOwl:hasDbXref NCI:C84533 semapv:UnspecifiedMatching -DOID:2449 acromegaly oboInOwl:hasDbXref UMLS_CUI:C0001206 semapv:UnspecifiedMatching DOID:2449 acromegaly oboInOwl:hasDbXref GARD:5725 semapv:UnspecifiedMatching DOID:2449 acromegaly oboInOwl:hasDbXref MESH:D000172 semapv:UnspecifiedMatching -DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref ICD10CM:H34.81 semapv:UnspecifiedMatching -DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref ICD9CM:362.35 semapv:UnspecifiedMatching -DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref MESH:D012170 semapv:UnspecifiedMatching +DOID:2449 acromegaly oboInOwl:hasDbXref NCI:C84533 semapv:UnspecifiedMatching +DOID:2449 acromegaly oboInOwl:hasDbXref UMLS_CUI:C0001206 semapv:UnspecifiedMatching DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref NCI:C118859 semapv:UnspecifiedMatching +DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref MESH:D012170 semapv:UnspecifiedMatching DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref UMLS_CUI:C0154841 semapv:UnspecifiedMatching +DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref ICD10CM:H34.81 semapv:UnspecifiedMatching +DOID:2450 central retinal vein occlusion oboInOwl:hasDbXref ICD9CM:362.35 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref GARD:4524 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref MESH:D018455 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref NCI:C99026 semapv:UnspecifiedMatching DOID:2451 protein S deficiency oboInOwl:hasDbXref UMLS_CUI:C0242666 semapv:UnspecifiedMatching DOID:2452 thrombophilia skos:exactMatch MESH:D019851 semapv:UnspecifiedMatching -DOID:2452 thrombophilia oboInOwl:hasDbXref OMIMPS:188050 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref UMLS_CUI:C0398623 semapv:UnspecifiedMatching +DOID:2452 thrombophilia oboInOwl:hasDbXref OMIMPS:188050 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref MESH:D019851 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:2452 thrombophilia oboInOwl:hasDbXref NCI:C84479 semapv:UnspecifiedMatching @@ -20827,16 +20858,16 @@ DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref GARD:8445 semapv:Uns DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref MESH:D003233 semapv:UnspecifiedMatching DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref NCI:C34507 semapv:UnspecifiedMatching DOID:2457 giant papillary conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009769 semapv:UnspecifiedMatching -DOID:2458 papillary conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0854165 semapv:UnspecifiedMatching DOID:2458 papillary conjunctivitis oboInOwl:hasDbXref NCI:C35616 semapv:UnspecifiedMatching -DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref UMLS_CUI:C0155372 semapv:UnspecifiedMatching -DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref ICD9CM:379.33 semapv:UnspecifiedMatching +DOID:2458 papillary conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0854165 semapv:UnspecifiedMatching DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref ICD10CM:H27.12 semapv:UnspecifiedMatching +DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref ICD9CM:379.33 semapv:UnspecifiedMatching +DOID:2460 anterior dislocation of lens oboInOwl:hasDbXref UMLS_CUI:C0155372 semapv:UnspecifiedMatching DOID:2462 retinal vascular disease oboInOwl:hasDbXref NCI:C35170 semapv:UnspecifiedMatching DOID:2462 retinal vascular disease oboInOwl:hasDbXref UMLS_CUI:C0154833 semapv:UnspecifiedMatching -DOID:2468 psychotic disorder oboInOwl:hasDbXref EFO:0000677 semapv:UnspecifiedMatching -DOID:2468 psychotic disorder oboInOwl:hasDbXref ICD9CM:298.8 semapv:UnspecifiedMatching DOID:2468 psychotic disorder oboInOwl:hasDbXref UMLS_CUI:C0029516 semapv:UnspecifiedMatching +DOID:2468 psychotic disorder oboInOwl:hasDbXref ICD9CM:298.8 semapv:UnspecifiedMatching +DOID:2468 psychotic disorder oboInOwl:hasDbXref EFO:0000677 semapv:UnspecifiedMatching DOID:2473 opportunistic mycosis oboInOwl:hasDbXref ICD9CM:118 semapv:UnspecifiedMatching DOID:2473 opportunistic mycosis oboInOwl:hasDbXref UMLS_CUI:C0029119 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref GARD:7854 semapv:UnspecifiedMatching @@ -20845,25 +20876,25 @@ DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref ICD9CM:372.13 semapv:Unspecif DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref MESH:D003233 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref NCI:C34508 semapv:UnspecifiedMatching DOID:2474 vernal conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009773 semapv:UnspecifiedMatching -DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155145 semapv:UnspecifiedMatching -DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref NCI:C35197 semapv:UnspecifiedMatching DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.4 semapv:UnspecifiedMatching DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref ICD9CM:372.1 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref GARD:6637 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD9CM:334.1 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref MESH:D015419 semapv:UnspecifiedMatching +DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref NCI:C35197 semapv:UnspecifiedMatching +DOID:2475 chronic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155145 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref NCI:C140267 semapv:UnspecifiedMatching -DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref OMIMPS:303350 semapv:UnspecifiedMatching DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref UMLS_CUI:C0037773 semapv:UnspecifiedMatching -DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0027888 semapv:UnspecifiedMatching +DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref MESH:D015419 semapv:UnspecifiedMatching +DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref OMIMPS:303350 semapv:UnspecifiedMatching +DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD10CM:G11.4 semapv:UnspecifiedMatching +DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref GARD:6637 semapv:UnspecifiedMatching +DOID:2476 hereditary spastic paraplegia oboInOwl:hasDbXref ICD9CM:334.1 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref ICD10CM:G60.0 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref MESH:D015417 semapv:UnspecifiedMatching DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref NCI:C75467 semapv:UnspecifiedMatching +DOID:2477 motor peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0027888 semapv:UnspecifiedMatching +DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref ICD10CM:H81.4 semapv:UnspecifiedMatching DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref ICD9CM:386.2 semapv:UnspecifiedMatching -DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref UMLS_CUI:C0155503 semapv:UnspecifiedMatching DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref MESH:D014717 semapv:UnspecifiedMatching -DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref ICD10CM:H81.4 semapv:UnspecifiedMatching +DOID:2479 central nervous system origin vertigo oboInOwl:hasDbXref UMLS_CUI:C0155503 semapv:UnspecifiedMatching DOID:248 trachea leiomyoma oboInOwl:hasDbXref MESH:D014134 semapv:UnspecifiedMatching DOID:248 trachea leiomyoma oboInOwl:hasDbXref NCI:C3419 semapv:UnspecifiedMatching DOID:248 trachea leiomyoma oboInOwl:hasDbXref NCI:C6049 semapv:UnspecifiedMatching @@ -20871,63 +20902,63 @@ DOID:248 trachea leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0040582 semapv:Unspecifi DOID:248 trachea leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1336772 semapv:UnspecifiedMatching DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0031707 semapv:UnspecifiedMatching DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref NCI:C97095 semapv:UnspecifiedMatching -DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref ICD9CM:275.3 semapv:UnspecifiedMatching DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref MESH:D010760 semapv:UnspecifiedMatching +DOID:2485 phosphorus metabolism disease oboInOwl:hasDbXref ICD9CM:275.3 semapv:UnspecifiedMatching DOID:2490 congenital nervous system abnormality oboInOwl:hasDbXref ICD9CM:742 semapv:UnspecifiedMatching DOID:2490 congenital nervous system abnormality oboInOwl:hasDbXref UMLS_CUI:C0158538 semapv:UnspecifiedMatching -DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0699739 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref ICD9CM:356.2 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref MESH:D009477 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref NCI:C3501 semapv:UnspecifiedMatching DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0151313 semapv:UnspecifiedMatching -DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref UMLS_CUI:C0267211 semapv:UnspecifiedMatching +DOID:2491 sensory peripheral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0699739 semapv:UnspecifiedMatching DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref MESH:D020252 semapv:UnspecifiedMatching DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref NCI:C84724 semapv:UnspecifiedMatching +DOID:2493 gastric antral vascular ectasia oboInOwl:hasDbXref UMLS_CUI:C0267211 semapv:UnspecifiedMatching +DOID:2494 angiodysplasia skos:exactMatch MESH:D016888 semapv:UnspecifiedMatching DOID:2494 angiodysplasia oboInOwl:hasDbXref MESH:D016888 semapv:UnspecifiedMatching DOID:2494 angiodysplasia oboInOwl:hasDbXref UMLS_CUI:C0085411 semapv:UnspecifiedMatching -DOID:2494 angiodysplasia skos:exactMatch MESH:D016888 semapv:UnspecifiedMatching -DOID:2495 senile angioma oboInOwl:hasDbXref NCI:C4390 semapv:UnspecifiedMatching DOID:2495 senile angioma oboInOwl:hasDbXref UMLS_CUI:C0343082 semapv:UnspecifiedMatching +DOID:2495 senile angioma oboInOwl:hasDbXref NCI:C4390 semapv:UnspecifiedMatching DOID:2497 enamel erosion oboInOwl:hasDbXref ICD9CM:521.31 semapv:UnspecifiedMatching DOID:2497 enamel erosion oboInOwl:hasDbXref UMLS_CUI:C0399400 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref ICD10CM:K03.2 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref ICD9CM:521.3 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref MESH:D014077 semapv:UnspecifiedMatching DOID:2498 tooth erosion oboInOwl:hasDbXref UMLS_CUI:C0040436 semapv:UnspecifiedMatching +DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS_CUI:C0003490 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref OMIM:207600 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref NCI:C35062 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS_CUI:C0039263 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS_CUI:C0003490 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref NCI:C34391 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref GARD:7730 semapv:UnspecifiedMatching -DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref MESH:D001015 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref ICD9CM:446.7 semapv:UnspecifiedMatching +DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref MESH:D001015 semapv:UnspecifiedMatching +DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref UMLS_CUI:C0039263 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref ICD10CM:M31.4 semapv:UnspecifiedMatching +DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref GARD:7730 semapv:UnspecifiedMatching DOID:2508 Takayasu's arteritis oboInOwl:hasDbXref MESH:D013625 semapv:UnspecifiedMatching -DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref ICD9CM:291.89 semapv:UnspecifiedMatching DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref UMLS_CUI:C1456283 semapv:UnspecifiedMatching +DOID:251 alcohol-induced mental disorder oboInOwl:hasDbXref ICD9CM:291.89 semapv:UnspecifiedMatching DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref MESH:D020232 semapv:UnspecifiedMatching DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref NCI:C84802 semapv:UnspecifiedMatching DOID:2510 Kluver-Bucy syndrome oboInOwl:hasDbXref UMLS_CUI:C0270707 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref UMLS_CUI:C0004779 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref ORDO:377 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref NCI:C2892 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref OMIM:109400 semapv:UnspecifiedMatching -DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MEDDRA:10062804 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref GARD:7166 semapv:UnspecifiedMatching +DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MEDDRA:10062804 semapv:UnspecifiedMatching DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref MESH:D001478 semapv:UnspecifiedMatching +DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref NCI:C2892 semapv:UnspecifiedMatching +DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref OMIM:109400 semapv:UnspecifiedMatching +DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref ORDO:377 semapv:UnspecifiedMatching +DOID:2512 nevoid basal cell carcinoma syndrome oboInOwl:hasDbXref UMLS_CUI:C0004779 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1368295 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206710 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007117 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C7586 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C3784 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref EFO:0004193 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref ICDO:8090/3 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref KEGG:05217 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref MESH:D018295 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref KEGG:05217 semapv:UnspecifiedMatching +DOID:2513 basal cell carcinoma oboInOwl:hasDbXref ICDO:8090/3 semapv:UnspecifiedMatching DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C156767 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C3784 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref NCI:C7586 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007117 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206710 semapv:UnspecifiedMatching -DOID:2513 basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1368295 semapv:UnspecifiedMatching -DOID:2516 intracranial cavernous angioma oboInOwl:hasDbXref UMLS_CUI:C1334237 semapv:UnspecifiedMatching DOID:2516 intracranial cavernous angioma oboInOwl:hasDbXref NCI:C5432 semapv:UnspecifiedMatching +DOID:2516 intracranial cavernous angioma oboInOwl:hasDbXref UMLS_CUI:C1334237 semapv:UnspecifiedMatching DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref ICD10CM:D18.02 semapv:UnspecifiedMatching DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref ICD9CM:228.02 semapv:UnspecifiedMatching DOID:2517 intracranial structure hemangioma oboInOwl:hasDbXref NCI:C3633 semapv:UnspecifiedMatching @@ -20936,148 +20967,148 @@ DOID:2518 orchitis oboInOwl:hasDbXref ICD10CM:N45.2 semapv:UnspecifiedMatching DOID:2518 orchitis oboInOwl:hasDbXref MESH:D009920 semapv:UnspecifiedMatching DOID:2518 orchitis oboInOwl:hasDbXref NCI:C97145 semapv:UnspecifiedMatching DOID:2518 orchitis oboInOwl:hasDbXref UMLS_CUI:C0029191 semapv:UnspecifiedMatching +DOID:2519 testicular disease oboInOwl:hasDbXref UMLS_CUI:C0039584 semapv:UnspecifiedMatching DOID:2519 testicular disease oboInOwl:hasDbXref MESH:D013733 semapv:UnspecifiedMatching DOID:2519 testicular disease oboInOwl:hasDbXref NCI:C26890 semapv:UnspecifiedMatching -DOID:2519 testicular disease oboInOwl:hasDbXref UMLS_CUI:C0039584 semapv:UnspecifiedMatching DOID:252 alcoholic psychosis oboInOwl:hasDbXref ICD9CM:291.9 semapv:UnspecifiedMatching DOID:252 alcoholic psychosis oboInOwl:hasDbXref MESH:D011604 semapv:UnspecifiedMatching DOID:252 alcoholic psychosis oboInOwl:hasDbXref UMLS_CUI:C0033936 semapv:UnspecifiedMatching -DOID:2526 prostate adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007112 semapv:UnspecifiedMatching DOID:2526 prostate adenocarcinoma oboInOwl:hasDbXref NCI:C2919 semapv:UnspecifiedMatching +DOID:2526 prostate adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007112 semapv:UnspecifiedMatching DOID:2527 nephrosis oboInOwl:hasDbXref MESH:D009401 semapv:UnspecifiedMatching DOID:2527 nephrosis oboInOwl:hasDbXref UMLS_CUI:C0027720 semapv:UnspecifiedMatching +DOID:2529 splenic disease oboInOwl:hasDbXref UMLS_CUI:C0037997 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref ICD10CM:D73 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref ICD9CM:289.50 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref MESH:D013158 semapv:UnspecifiedMatching DOID:2529 splenic disease oboInOwl:hasDbXref NCI:C35823 semapv:UnspecifiedMatching -DOID:2529 splenic disease oboInOwl:hasDbXref UMLS_CUI:C0037997 semapv:UnspecifiedMatching +DOID:2530 splenic abscess oboInOwl:hasDbXref UMLS_CUI:C0272412 semapv:UnspecifiedMatching DOID:2530 splenic abscess oboInOwl:hasDbXref ICD10CM:D73.3 semapv:UnspecifiedMatching DOID:2530 splenic abscess oboInOwl:hasDbXref NCI:C35347 semapv:UnspecifiedMatching -DOID:2530 splenic abscess oboInOwl:hasDbXref UMLS_CUI:C0272412 semapv:UnspecifiedMatching DOID:2531 hematologic cancer oboInOwl:hasDbXref MESH:D019337 semapv:UnspecifiedMatching DOID:2531 hematologic cancer oboInOwl:hasDbXref NCI:C27134 semapv:UnspecifiedMatching DOID:2531 hematologic cancer oboInOwl:hasDbXref UMLS_CUI:C0376544 semapv:UnspecifiedMatching -DOID:2533 splenic infarction oboInOwl:hasDbXref UMLS_CUI:C0037998 semapv:UnspecifiedMatching -DOID:2533 splenic infarction oboInOwl:hasDbXref MESH:D013159 semapv:UnspecifiedMatching -DOID:2533 splenic infarction oboInOwl:hasDbXref ICD10CM:D73.5 semapv:UnspecifiedMatching DOID:2533 splenic infarction oboInOwl:hasDbXref GARD:9973 semapv:UnspecifiedMatching +DOID:2533 splenic infarction oboInOwl:hasDbXref ICD10CM:D73.5 semapv:UnspecifiedMatching +DOID:2533 splenic infarction oboInOwl:hasDbXref MESH:D013159 semapv:UnspecifiedMatching +DOID:2533 splenic infarction oboInOwl:hasDbXref UMLS_CUI:C0037998 semapv:UnspecifiedMatching +DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref UMLS_CUI:C0393819 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref ICD10CM:G61.81 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref ICD9CM:357.81 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref MESH:D020277 semapv:UnspecifiedMatching DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref NCI:C84636 semapv:UnspecifiedMatching -DOID:2536 chronic inflammatory demyelinating polyneuritis oboInOwl:hasDbXref UMLS_CUI:C0393819 semapv:UnspecifiedMatching -DOID:2537 inflammatory and toxic neuropathy oboInOwl:hasDbXref ICD9CM:357 semapv:UnspecifiedMatching DOID:2537 inflammatory and toxic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0154758 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ORDO:98818 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref NCI:C84806 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS_CUI:C0282512 semapv:UnspecifiedMatching -DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching +DOID:2537 inflammatory and toxic neuropathy oboInOwl:hasDbXref ICD9CM:357 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref GARD:6855 semapv:UnspecifiedMatching +DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref MESH:D018887 semapv:UnspecifiedMatching +DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref NCI:C84806 semapv:UnspecifiedMatching +DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref OMIM:245570 semapv:UnspecifiedMatching +DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref ORDO:98818 semapv:UnspecifiedMatching +DOID:2538 Landau-Kleffner syndrome oboInOwl:hasDbXref UMLS_CUI:C0282512 semapv:UnspecifiedMatching +DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref NCI:C3635 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref ICD10CM:D18.03 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref ICD9CM:228.04 semapv:UnspecifiedMatching -DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref NCI:C3635 semapv:UnspecifiedMatching DOID:254 hemangioma of intra-abdominal structure oboInOwl:hasDbXref UMLS_CUI:C0154052 semapv:UnspecifiedMatching DOID:2544 extratemporal epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270849 semapv:UnspecifiedMatching DOID:2544 extratemporal epilepsy oboInOwl:hasDbXref NCI:C7760 semapv:UnspecifiedMatching -DOID:2548 reflex epilepsy oboInOwl:hasDbXref MESH:D020195 semapv:UnspecifiedMatching DOID:2548 reflex epilepsy oboInOwl:hasDbXref NCI:C85041 semapv:UnspecifiedMatching DOID:2548 reflex epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270857 semapv:UnspecifiedMatching -DOID:255 hemangioma oboInOwl:hasDbXref NCI:C3085 semapv:UnspecifiedMatching +DOID:2548 reflex epilepsy oboInOwl:hasDbXref MESH:D020195 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref ICD10CM:D18.0 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref ICD9CM:228.00 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref ICDO:9120/0 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching +DOID:255 hemangioma oboInOwl:hasDbXref NCI:C3085 semapv:UnspecifiedMatching DOID:255 hemangioma oboInOwl:hasDbXref UMLS_CUI:C0018916 semapv:UnspecifiedMatching -DOID:2550 tactile epilepsy oboInOwl:hasDbXref UMLS_CUI:C0393724 semapv:UnspecifiedMatching DOID:2550 tactile epilepsy oboInOwl:hasDbXref NCI:C4687 semapv:UnspecifiedMatching +DOID:2550 tactile epilepsy oboInOwl:hasDbXref UMLS_CUI:C0393724 semapv:UnspecifiedMatching DOID:2555 granulomatous angiitis oboInOwl:hasDbXref MESH:D020293 semapv:UnspecifiedMatching DOID:2555 granulomatous angiitis oboInOwl:hasDbXref NCI:C34653 semapv:UnspecifiedMatching DOID:2555 granulomatous angiitis oboInOwl:hasDbXref UMLS_CUI:C0018202 semapv:UnspecifiedMatching -DOID:2556 relapsing polychondritis oboInOwl:hasDbXref GARD:7417 semapv:UnspecifiedMatching -DOID:2556 relapsing polychondritis oboInOwl:hasDbXref ICD10CM:M94.1 semapv:UnspecifiedMatching -DOID:2556 relapsing polychondritis oboInOwl:hasDbXref MESH:D011081 semapv:UnspecifiedMatching -DOID:2556 relapsing polychondritis oboInOwl:hasDbXref NCI:C157268 semapv:UnspecifiedMatching DOID:2556 relapsing polychondritis oboInOwl:hasDbXref UMLS_CUI:C0032453 semapv:UnspecifiedMatching +DOID:2556 relapsing polychondritis oboInOwl:hasDbXref NCI:C157268 semapv:UnspecifiedMatching +DOID:2556 relapsing polychondritis oboInOwl:hasDbXref MESH:D011081 semapv:UnspecifiedMatching +DOID:2556 relapsing polychondritis oboInOwl:hasDbXref ICD10CM:M94.1 semapv:UnspecifiedMatching +DOID:2556 relapsing polychondritis oboInOwl:hasDbXref GARD:7417 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref ICD10CM:M94.2 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref ICD9CM:733.92 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref MESH:D002357 semapv:UnspecifiedMatching DOID:2557 chondromalacia oboInOwl:hasDbXref UMLS_CUI:C0085700 semapv:UnspecifiedMatching -DOID:2559 opiate dependence oboInOwl:hasDbXref UMLS_CUI:C0524662 semapv:UnspecifiedMatching -DOID:2559 opiate dependence oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching DOID:2559 opiate dependence oboInOwl:hasDbXref ICD10CM:F11.2 semapv:UnspecifiedMatching DOID:2559 opiate dependence oboInOwl:hasDbXref ICD9CM:304.00 semapv:UnspecifiedMatching +DOID:2559 opiate dependence oboInOwl:hasDbXref MESH:D009293 semapv:UnspecifiedMatching +DOID:2559 opiate dependence oboInOwl:hasDbXref UMLS_CUI:C0524662 semapv:UnspecifiedMatching DOID:256 hemangioma of spleen oboInOwl:hasDbXref NCI:C8541 semapv:UnspecifiedMatching DOID:256 hemangioma of spleen oboInOwl:hasDbXref UMLS_CUI:C0685201 semapv:UnspecifiedMatching DOID:2560 morphine dependence oboInOwl:hasDbXref MESH:D009021 semapv:UnspecifiedMatching DOID:2560 morphine dependence oboInOwl:hasDbXref UMLS_CUI:C0026552 semapv:UnspecifiedMatching -DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref MESH:D010482 semapv:UnspecifiedMatching -DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref NCI:C34913 semapv:UnspecifiedMatching DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031024 semapv:UnspecifiedMatching -DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0024439 semapv:UnspecifiedMatching +DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref NCI:C34913 semapv:UnspecifiedMatching +DOID:2562 suppurative periapical periodontitis oboInOwl:hasDbXref MESH:D010482 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.55 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.55 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref NCI:C34793 semapv:UnspecifiedMatching DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref OMIM:217800 semapv:UnspecifiedMatching -DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0010035 semapv:UnspecifiedMatching -DOID:2566 corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching +DOID:2565 macular corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0024439 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0010036 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref NCI:C34513 semapv:UnspecifiedMatching -DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching -DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.5 semapv:UnspecifiedMatching DOID:2566 corneal dystrophy oboInOwl:hasDbXref NCI:C34512 semapv:UnspecifiedMatching +DOID:2566 corneal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0010035 semapv:UnspecifiedMatching +DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD9CM:371.5 semapv:UnspecifiedMatching +DOID:2566 corneal dystrophy oboInOwl:hasDbXref ICD10CM:H18.5 semapv:UnspecifiedMatching +DOID:2566 corneal dystrophy oboInOwl:hasDbXref MESH:D003317 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref ICD10CM:N72 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref ICD9CM:616.0 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref MESH:D002575 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref NCI:C26716 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref UMLS_CUI:C0007860 semapv:UnspecifiedMatching DOID:2568 cervicitis oboInOwl:hasDbXref UMLS_CUI:C0007861 semapv:UnspecifiedMatching -DOID:2569 retinal drusen oboInOwl:hasDbXref UMLS_CUI:C0035312 semapv:UnspecifiedMatching -DOID:2569 retinal drusen oboInOwl:hasDbXref MESH:D015593 semapv:UnspecifiedMatching DOID:2569 retinal drusen oboInOwl:hasDbXref ICD9CM:362.57 semapv:UnspecifiedMatching +DOID:2569 retinal drusen oboInOwl:hasDbXref MESH:D015593 semapv:UnspecifiedMatching +DOID:2569 retinal drusen oboInOwl:hasDbXref UMLS_CUI:C0035312 semapv:UnspecifiedMatching DOID:2570 malignant histiocytic disease oboInOwl:hasDbXref MESH:D015620 semapv:UnspecifiedMatching DOID:2570 malignant histiocytic disease oboInOwl:hasDbXref UMLS_CUI:C0019613 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0023381 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019621 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:246400 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref OMIM:604856 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref NCI:C3160 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0023381 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019621 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref NCI:C3107 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD10CM:C96.0 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD10CM:C96.6 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref MESH:C538636 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICDO:9751/1 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD9CM:202.5 semapv:UnspecifiedMatching -DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD10CM:C96.6 semapv:UnspecifiedMatching DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref MESH:D006646 semapv:UnspecifiedMatching +DOID:2571 Langerhans-cell histiocytosis oboInOwl:hasDbXref ICD10CM:C96.0 semapv:UnspecifiedMatching DOID:2575 barbiturate dependence oboInOwl:hasDbXref ICD9CM:304.11 semapv:UnspecifiedMatching DOID:2575 barbiturate dependence oboInOwl:hasDbXref UMLS_CUI:C0154482 semapv:UnspecifiedMatching -DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ORDO:177 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref UMLS_CUI:C0282529 semapv:UnspecifiedMatching +DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ORDO:177 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref OMIMPS:215100 semapv:UnspecifiedMatching -DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching -DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref NCI:C85047 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:E71.540 semapv:UnspecifiedMatching +DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref MESH:D018902 semapv:UnspecifiedMatching DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref GARD:13160 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref GARD:8542 semapv:UnspecifiedMatching +DOID:2580 rhizomelic chondrodysplasia punctata oboInOwl:hasDbXref NCI:C85047 semapv:UnspecifiedMatching +DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ORDO:93442 semapv:UnspecifiedMatching +DOID:2581 chondrodysplasia punctata skos:narrowMatch MESH:D002806 semapv:UnspecifiedMatching +DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref UMLS_CUI:C0008445 semapv:UnspecifiedMatching +DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ICD10CM:Q77.3 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref MESH:D002806 semapv:UnspecifiedMatching +DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref GARD:8542 semapv:UnspecifiedMatching DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref NCI:C84632 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref OMIM:215105 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref ORDO:93442 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata oboInOwl:hasDbXref UMLS_CUI:C0008445 semapv:UnspecifiedMatching -DOID:2581 chondrodysplasia punctata skos:narrowMatch MESH:D002806 semapv:UnspecifiedMatching -DOID:2582 acatalasia oboInOwl:hasDbXref UMLS_CUI:C0268419 semapv:UnspecifiedMatching -DOID:2582 acatalasia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching -DOID:2582 acatalasia oboInOwl:hasDbXref ORDO:926 semapv:UnspecifiedMatching -DOID:2582 acatalasia oboInOwl:hasDbXref MESH:D020642 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref GARD:363 semapv:UnspecifiedMatching +DOID:2582 acatalasia oboInOwl:hasDbXref MESH:D020642 semapv:UnspecifiedMatching DOID:2582 acatalasia oboInOwl:hasDbXref NCI:C84526 semapv:UnspecifiedMatching +DOID:2582 acatalasia oboInOwl:hasDbXref OMIM:614097 semapv:UnspecifiedMatching +DOID:2582 acatalasia oboInOwl:hasDbXref ORDO:926 semapv:UnspecifiedMatching +DOID:2582 acatalasia oboInOwl:hasDbXref UMLS_CUI:C0268419 semapv:UnspecifiedMatching +DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0001768 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia skos:exactMatch MESH:D000361 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0086438 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref OMIMPS:601495 semapv:UnspecifiedMatching -DOID:2583 agammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0001768 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref MESH:D000361 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref ICD9CM:279.00 semapv:UnspecifiedMatching DOID:2583 agammaglobulinemia oboInOwl:hasDbXref ICD10CM:D80.1 semapv:UnspecifiedMatching @@ -21087,29 +21118,29 @@ DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref MESH:C535761 semapv:Uns DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref NCI:C35337 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref OMIMPS:256300 semapv:UnspecifiedMatching DOID:2590 familial nephrotic syndrome oboInOwl:hasDbXref UMLS_CUI:C3501848 semapv:UnspecifiedMatching -DOID:2595 glottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153483 semapv:UnspecifiedMatching -DOID:2595 glottis cancer oboInOwl:hasDbXref NCI:C3544 semapv:UnspecifiedMatching -DOID:2595 glottis cancer oboInOwl:hasDbXref ICD9CM:161.0 semapv:UnspecifiedMatching DOID:2595 glottis cancer oboInOwl:hasDbXref ICD10CM:C32.0 semapv:UnspecifiedMatching +DOID:2595 glottis cancer oboInOwl:hasDbXref ICD9CM:161.0 semapv:UnspecifiedMatching +DOID:2595 glottis cancer oboInOwl:hasDbXref NCI:C3544 semapv:UnspecifiedMatching +DOID:2595 glottis cancer oboInOwl:hasDbXref UMLS_CUI:C0153483 semapv:UnspecifiedMatching +DOID:2596 larynx cancer oboInOwl:hasDbXref ICD9CM:161 semapv:UnspecifiedMatching +DOID:2596 larynx cancer oboInOwl:hasDbXref UMLS_CUI:C0007107 semapv:UnspecifiedMatching +DOID:2596 larynx cancer oboInOwl:hasDbXref NCI:C7484 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref GARD:6862 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref ICD10CM:C32 semapv:UnspecifiedMatching -DOID:2596 larynx cancer oboInOwl:hasDbXref ICD9CM:161 semapv:UnspecifiedMatching DOID:2596 larynx cancer oboInOwl:hasDbXref MESH:D007822 semapv:UnspecifiedMatching -DOID:2596 larynx cancer oboInOwl:hasDbXref NCI:C7484 semapv:UnspecifiedMatching -DOID:2596 larynx cancer oboInOwl:hasDbXref UMLS_CUI:C0007107 semapv:UnspecifiedMatching DOID:2597 glottis neoplasm oboInOwl:hasDbXref NCI:C4425 semapv:UnspecifiedMatching DOID:2597 glottis neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345713 semapv:UnspecifiedMatching DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref MESH:D007822 semapv:UnspecifiedMatching DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref NCI:C3156 semapv:UnspecifiedMatching DOID:2598 laryngeal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0023055 semapv:UnspecifiedMatching -DOID:2599 glottis carcinoma oboInOwl:hasDbXref NCI:C4923 semapv:UnspecifiedMatching DOID:2599 glottis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0740083 semapv:UnspecifiedMatching -DOID:26 pancreas disease oboInOwl:hasDbXref UMLS_CUI:C0029771 semapv:UnspecifiedMatching +DOID:2599 glottis carcinoma oboInOwl:hasDbXref NCI:C4923 semapv:UnspecifiedMatching DOID:26 pancreas disease oboInOwl:hasDbXref ICD9CM:577.8 semapv:UnspecifiedMatching +DOID:26 pancreas disease oboInOwl:hasDbXref UMLS_CUI:C0029771 semapv:UnspecifiedMatching DOID:26 pancreas disease oboInOwl:hasDbXref ICD10CM:K86.8 semapv:UnspecifiedMatching -DOID:260 hepatic flexure cancer oboInOwl:hasDbXref ICD10CM:C18.3 semapv:UnspecifiedMatching -DOID:260 hepatic flexure cancer oboInOwl:hasDbXref ICD9CM:153.0 semapv:UnspecifiedMatching DOID:260 hepatic flexure cancer oboInOwl:hasDbXref UMLS_CUI:C0153433 semapv:UnspecifiedMatching +DOID:260 hepatic flexure cancer oboInOwl:hasDbXref ICD9CM:153.0 semapv:UnspecifiedMatching +DOID:260 hepatic flexure cancer oboInOwl:hasDbXref ICD10CM:C18.3 semapv:UnspecifiedMatching DOID:2600 laryngeal carcinoma oboInOwl:hasDbXref NCI:C4855 semapv:UnspecifiedMatching DOID:2600 laryngeal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0595989 semapv:UnspecifiedMatching DOID:2601 juxtacortical chondroma oboInOwl:hasDbXref NCI:C4302 semapv:UnspecifiedMatching @@ -21119,14 +21150,14 @@ DOID:2602 chondroma oboInOwl:hasDbXref ICDO:9220/0 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref MESH:D002812 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref NCI:C53459 semapv:UnspecifiedMatching DOID:2602 chondroma oboInOwl:hasDbXref UMLS_CUI:C0936248 semapv:UnspecifiedMatching -DOID:2609 adenomyoma skos:exactMatch MESH:D018194 semapv:UnspecifiedMatching -DOID:2609 adenomyoma oboInOwl:hasDbXref UMLS_CUI:C0206622 semapv:UnspecifiedMatching +DOID:2609 adenomyoma oboInOwl:hasDbXref ICDO:8932/0 semapv:UnspecifiedMatching DOID:2609 adenomyoma oboInOwl:hasDbXref MESH:D018194 semapv:UnspecifiedMatching DOID:2609 adenomyoma oboInOwl:hasDbXref NCI:C3726 semapv:UnspecifiedMatching -DOID:2609 adenomyoma oboInOwl:hasDbXref ICDO:8932/0 semapv:UnspecifiedMatching +DOID:2609 adenomyoma oboInOwl:hasDbXref UMLS_CUI:C0206622 semapv:UnspecifiedMatching +DOID:2609 adenomyoma skos:exactMatch MESH:D018194 semapv:UnspecifiedMatching +DOID:261 transverse colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153434 semapv:UnspecifiedMatching DOID:261 transverse colon cancer oboInOwl:hasDbXref ICD10CM:C18.4 semapv:UnspecifiedMatching DOID:261 transverse colon cancer oboInOwl:hasDbXref ICD9CM:153.1 semapv:UnspecifiedMatching -DOID:261 transverse colon cancer oboInOwl:hasDbXref UMLS_CUI:C0153434 semapv:UnspecifiedMatching DOID:2614 serous surface papilloma oboInOwl:hasDbXref ICDO:8461/0 semapv:UnspecifiedMatching DOID:2614 serous surface papilloma oboInOwl:hasDbXref NCI:C4181 semapv:UnspecifiedMatching DOID:2614 serous surface papilloma oboInOwl:hasDbXref UMLS_CUI:C0334360 semapv:UnspecifiedMatching @@ -21139,8 +21170,8 @@ DOID:2615 papilloma oboInOwl:hasDbXref UMLS_CUI:C0205875 semapv:UnspecifiedMatch DOID:2616 Wolffian duct adenoma oboInOwl:hasDbXref UMLS_CUI:C0334530 semapv:UnspecifiedMatching DOID:262 kidney hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0346256 semapv:UnspecifiedMatching DOID:262 kidney hemangiopericytoma oboInOwl:hasDbXref NCI:C4527 semapv:UnspecifiedMatching -DOID:2621 autonomic nervous system neoplasm oboInOwl:hasDbXref NCI:C5112 semapv:UnspecifiedMatching DOID:2621 autonomic nervous system neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332356 semapv:UnspecifiedMatching +DOID:2621 autonomic nervous system neoplasm oboInOwl:hasDbXref NCI:C5112 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref GARD:4214 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref ICDO:9390/0 semapv:UnspecifiedMatching DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref MESH:D020288 semapv:UnspecifiedMatching @@ -21151,37 +21182,37 @@ DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS_CUI:C0205770 semapv:U DOID:2626 choroid plexus papilloma oboInOwl:hasDbXref UMLS_CUI:C1332963 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0740457 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0494158 semapv:UnspecifiedMatching -DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0022665 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C7548 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C3150 semapv:UnspecifiedMatching -DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C120456 semapv:UnspecifiedMatching +DOID:263 kidney cancer oboInOwl:hasDbXref UMLS_CUI:C0022665 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref MESH:D007680 semapv:UnspecifiedMatching +DOID:263 kidney cancer oboInOwl:hasDbXref NCI:C120456 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref ICD9CM:189.0 semapv:UnspecifiedMatching DOID:263 kidney cancer oboInOwl:hasDbXref ICD10CM:C64 semapv:UnspecifiedMatching DOID:2632 papillary serous adenocarcinoma oboInOwl:hasDbXref NCI:C4182 semapv:UnspecifiedMatching -DOID:2634 cystadenoma oboInOwl:hasDbXref ICDO:8440/0 semapv:UnspecifiedMatching -DOID:2634 cystadenoma oboInOwl:hasDbXref MESH:D003537 semapv:UnspecifiedMatching DOID:2634 cystadenoma oboInOwl:hasDbXref NCI:C2972 semapv:UnspecifiedMatching DOID:2634 cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0010633 semapv:UnspecifiedMatching +DOID:2634 cystadenoma oboInOwl:hasDbXref ICDO:8440/0 semapv:UnspecifiedMatching +DOID:2634 cystadenoma oboInOwl:hasDbXref MESH:D003537 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref GARD:9397 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref MESH:D001948 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref NCI:C39954 semapv:UnspecifiedMatching DOID:2636 ovarian Brenner tumor oboInOwl:hasDbXref UMLS_CUI:C0006160 semapv:UnspecifiedMatching -DOID:2639 breast pericanalicular fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0334497 semapv:UnspecifiedMatching DOID:2639 breast pericanalicular fibroadenoma oboInOwl:hasDbXref NCI:C4272 semapv:UnspecifiedMatching -DOID:264 hemangiopericytoma oboInOwl:hasDbXref GARD:2627 semapv:UnspecifiedMatching -DOID:264 hemangiopericytoma oboInOwl:hasDbXref ICDO:9150/3 semapv:UnspecifiedMatching -DOID:264 hemangiopericytoma oboInOwl:hasDbXref MESH:D006393 semapv:UnspecifiedMatching -DOID:264 hemangiopericytoma oboInOwl:hasDbXref NCI:C3087 semapv:UnspecifiedMatching +DOID:2639 breast pericanalicular fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0334497 semapv:UnspecifiedMatching DOID:264 hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0018922 semapv:UnspecifiedMatching +DOID:264 hemangiopericytoma oboInOwl:hasDbXref NCI:C3087 semapv:UnspecifiedMatching +DOID:264 hemangiopericytoma oboInOwl:hasDbXref MESH:D006393 semapv:UnspecifiedMatching +DOID:264 hemangiopericytoma oboInOwl:hasDbXref ICDO:9150/3 semapv:UnspecifiedMatching +DOID:264 hemangiopericytoma oboInOwl:hasDbXref GARD:2627 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref ICDO:9090/0 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref MESH:D013330 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref NCI:C7468 semapv:UnspecifiedMatching DOID:2640 struma ovarii oboInOwl:hasDbXref UMLS_CUI:C0038478 semapv:UnspecifiedMatching DOID:2641 ovarian germ cell monodermal and highly specialized teratoma oboInOwl:hasDbXref NCI:C8113 semapv:UnspecifiedMatching DOID:2641 ovarian germ cell monodermal and highly specialized teratoma oboInOwl:hasDbXref UMLS_CUI:C0280134 semapv:UnspecifiedMatching -DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref NCI:C38150 semapv:UnspecifiedMatching DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref MESH:D054973 semapv:UnspecifiedMatching +DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref NCI:C38150 semapv:UnspecifiedMatching DOID:2643 perivascular epithelioid cell tumor oboInOwl:hasDbXref UMLS_CUI:C1300127 semapv:UnspecifiedMatching DOID:2645 benign mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0025500 semapv:UnspecifiedMatching DOID:2645 benign mesothelioma oboInOwl:hasDbXref NCI:C3234 semapv:UnspecifiedMatching @@ -21197,10 +21228,10 @@ DOID:2649 chondroblastoma oboInOwl:hasDbXref ICDO:9230/1 semapv:UnspecifiedMatch DOID:2649 chondroblastoma oboInOwl:hasDbXref MESH:D002804 semapv:UnspecifiedMatching DOID:2649 chondroblastoma oboInOwl:hasDbXref NCI:C2945 semapv:UnspecifiedMatching DOID:2649 chondroblastoma oboInOwl:hasDbXref UMLS_CUI:C0008441 semapv:UnspecifiedMatching -DOID:265 spleen angiosarcoma oboInOwl:hasDbXref NCI:C4564 semapv:UnspecifiedMatching DOID:265 spleen angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346424 semapv:UnspecifiedMatching -DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334511 semapv:UnspecifiedMatching +DOID:265 spleen angiosarcoma oboInOwl:hasDbXref NCI:C4564 semapv:UnspecifiedMatching DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref NCI:C4457 semapv:UnspecifiedMatching +DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334511 semapv:UnspecifiedMatching DOID:2653 benign fibrous mesothelioma oboInOwl:hasDbXref MESH:D054363 semapv:UnspecifiedMatching DOID:2656 breast intracanalicular fibroadenoma oboInOwl:hasDbXref NCI:C4271 semapv:UnspecifiedMatching DOID:2656 breast intracanalicular fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0334496 semapv:UnspecifiedMatching @@ -21211,13 +21242,13 @@ DOID:2658 dermoid cyst oboInOwl:hasDbXref NCI:C9011 semapv:UnspecifiedMatching DOID:2658 dermoid cyst oboInOwl:hasDbXref UMLS_CUI:C0011649 semapv:UnspecifiedMatching DOID:2660 cystic teratoma oboInOwl:hasDbXref NCI:C9014 semapv:UnspecifiedMatching DOID:2660 cystic teratoma oboInOwl:hasDbXref UMLS_CUI:C1368903 semapv:UnspecifiedMatching +DOID:2661 myoepithelioma oboInOwl:hasDbXref UMLS_CUI:C0027070 semapv:UnspecifiedMatching DOID:2661 myoepithelioma oboInOwl:hasDbXref ICDO:8982/0 semapv:UnspecifiedMatching DOID:2661 myoepithelioma oboInOwl:hasDbXref MESH:D009208 semapv:UnspecifiedMatching DOID:2661 myoepithelioma oboInOwl:hasDbXref NCI:C40392 semapv:UnspecifiedMatching -DOID:2661 myoepithelioma oboInOwl:hasDbXref UMLS_CUI:C0027070 semapv:UnspecifiedMatching DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0038987 semapv:UnspecifiedMatching -DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref NCI:C3398 semapv:UnspecifiedMatching DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref MESH:D013544 semapv:UnspecifiedMatching +DOID:2664 sweat gland benign neoplasm oboInOwl:hasDbXref NCI:C3398 semapv:UnspecifiedMatching DOID:2667 obsolete benign mesenchymoma oboInOwl:hasDbXref NCI:C4267 semapv:UnspecifiedMatching DOID:2668 mesenchymoma oboInOwl:hasDbXref ICDO:8990/3 semapv:UnspecifiedMatching DOID:2668 mesenchymoma oboInOwl:hasDbXref MESH:D008637 semapv:UnspecifiedMatching @@ -21228,13 +21259,13 @@ DOID:2669 Pacinian tumor oboInOwl:hasDbXref NCI:C4328 semapv:UnspecifiedMatching DOID:2669 Pacinian tumor oboInOwl:hasDbXref UMLS_CUI:C0334599 semapv:UnspecifiedMatching DOID:2670 transitional papilloma oboInOwl:hasDbXref NCI:C4115 semapv:UnspecifiedMatching DOID:2670 transitional papilloma oboInOwl:hasDbXref UMLS_CUI:C0334266 semapv:UnspecifiedMatching -DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334265 semapv:UnspecifiedMatching +DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref NCI:C6783 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007138 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref NCI:C2930 semapv:UnspecifiedMatching -DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref NCI:C6783 semapv:UnspecifiedMatching +DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334265 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref ICDO:8120/3 semapv:UnspecifiedMatching -DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref GARD:7794 semapv:UnspecifiedMatching DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref MESH:D002295 semapv:UnspecifiedMatching +DOID:2671 transitional cell carcinoma oboInOwl:hasDbXref GARD:7794 semapv:UnspecifiedMatching DOID:2673 adult cystic nephroma oboInOwl:hasDbXref NCI:C7504 semapv:UnspecifiedMatching DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref GARD:10640 semapv:UnspecifiedMatching DOID:2679 dysembryoplastic neuroepithelial tumor oboInOwl:hasDbXref ICDO:9413/0 semapv:UnspecifiedMatching @@ -21246,8 +21277,8 @@ DOID:268 liver angiosarcoma oboInOwl:hasDbXref NCI:C4438 semapv:UnspecifiedMatch DOID:268 liver angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0345907 semapv:UnspecifiedMatching DOID:2682 intracystic papillary adenoma oboInOwl:hasDbXref ICDO:8504/0 semapv:UnspecifiedMatching DOID:2682 intracystic papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C0334374 semapv:UnspecifiedMatching -DOID:2683 adenofibroma skos:exactMatch MESH:D000232 semapv:UnspecifiedMatching DOID:2683 adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0001422 semapv:UnspecifiedMatching +DOID:2683 adenofibroma skos:exactMatch MESH:D000232 semapv:UnspecifiedMatching DOID:2683 adenofibroma oboInOwl:hasDbXref MESH:D000232 semapv:UnspecifiedMatching DOID:2683 adenofibroma oboInOwl:hasDbXref ICDO:9013/0 semapv:UnspecifiedMatching DOID:2685 ossifying fibromyxoid tumor oboInOwl:hasDbXref ICDO:8842/0 semapv:UnspecifiedMatching @@ -21262,11 +21293,11 @@ DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref NCI:C3205 semapv:UnspecifiedMatch DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref NCI:C4490 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0024224 semapv:UnspecifiedMatching DOID:2689 lymphangiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346082 semapv:UnspecifiedMatching -DOID:2691 myoma oboInOwl:hasDbXref UMLS_CUI:C0027086 semapv:UnspecifiedMatching DOID:2691 myoma oboInOwl:hasDbXref NCI:C4882 semapv:UnspecifiedMatching -DOID:2691 myoma oboInOwl:hasDbXref ICDO:8895/0 semapv:UnspecifiedMatching -DOID:2691 myoma oboInOwl:hasDbXref ICD10CM:D21 semapv:UnspecifiedMatching +DOID:2691 myoma oboInOwl:hasDbXref UMLS_CUI:C0027086 semapv:UnspecifiedMatching DOID:2691 myoma oboInOwl:hasDbXref MESH:D009214 semapv:UnspecifiedMatching +DOID:2691 myoma oboInOwl:hasDbXref ICD10CM:D21 semapv:UnspecifiedMatching +DOID:2691 myoma oboInOwl:hasDbXref ICDO:8895/0 semapv:UnspecifiedMatching DOID:2696 Leydig cell tumor oboInOwl:hasDbXref MESH:D007984 semapv:UnspecifiedMatching DOID:2696 Leydig cell tumor oboInOwl:hasDbXref NCI:C3188 semapv:UnspecifiedMatching DOID:2696 Leydig cell tumor oboInOwl:hasDbXref NCI:C4213 semapv:UnspecifiedMatching @@ -21276,29 +21307,29 @@ DOID:2697 renal adenoma oboInOwl:hasDbXref NCI:C8383 semapv:UnspecifiedMatching DOID:2697 renal adenoma oboInOwl:hasDbXref UMLS_CUI:C0334684 semapv:UnspecifiedMatching DOID:2698 nephrogenic adenofibroma oboInOwl:hasDbXref NCI:C39812 semapv:UnspecifiedMatching DOID:2698 nephrogenic adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1266141 semapv:UnspecifiedMatching -DOID:270 liver sarcoma oboInOwl:hasDbXref UMLS_CUI:C0345906 semapv:UnspecifiedMatching DOID:270 liver sarcoma oboInOwl:hasDbXref NCI:C4437 semapv:UnspecifiedMatching +DOID:270 liver sarcoma oboInOwl:hasDbXref UMLS_CUI:C0345906 semapv:UnspecifiedMatching +DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref NCI:C8978 semapv:UnspecifiedMatching DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334499 semapv:UnspecifiedMatching DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref ICDO:9015/0 semapv:UnspecifiedMatching -DOID:2700 mucinous adenofibroma oboInOwl:hasDbXref NCI:C8978 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref MESH:D000070779 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref NCI:C3829 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref NCI:C6532 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0221289 semapv:UnspecifiedMatching DOID:2701 nodular tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0588125 semapv:UnspecifiedMatching +DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref MESH:D013586 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref GARD:7396 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref ICD10CM:M12.2 semapv:UnspecifiedMatching -DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref MESH:D013586 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref NCI:C3401 semapv:UnspecifiedMatching DOID:2702 pigmented villonodular synovitis oboInOwl:hasDbXref UMLS_CUI:C0039106 semapv:UnspecifiedMatching -DOID:2703 synovitis oboInOwl:hasDbXref UMLS_CUI:C0039103 semapv:UnspecifiedMatching -DOID:2703 synovitis oboInOwl:hasDbXref NCI:C50766 semapv:UnspecifiedMatching DOID:2703 synovitis oboInOwl:hasDbXref GARD:7722 semapv:UnspecifiedMatching DOID:2703 synovitis oboInOwl:hasDbXref MESH:D013585 semapv:UnspecifiedMatching +DOID:2703 synovitis oboInOwl:hasDbXref NCI:C50766 semapv:UnspecifiedMatching +DOID:2703 synovitis oboInOwl:hasDbXref UMLS_CUI:C0039103 semapv:UnspecifiedMatching DOID:2704 malignant giant cell tumor of the tendon sheath oboInOwl:hasDbXref NCI:C6535 semapv:UnspecifiedMatching DOID:2704 malignant giant cell tumor of the tendon sheath oboInOwl:hasDbXref UMLS_CUI:C1266168 semapv:UnspecifiedMatching -DOID:2705 malignant giant cell tumor oboInOwl:hasDbXref NCI:C4090 semapv:UnspecifiedMatching DOID:2705 malignant giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334229 semapv:UnspecifiedMatching +DOID:2705 malignant giant cell tumor oboInOwl:hasDbXref NCI:C4090 semapv:UnspecifiedMatching DOID:2706 synovium cancer oboInOwl:hasDbXref NCI:C6531 semapv:UnspecifiedMatching DOID:2706 synovium cancer oboInOwl:hasDbXref UMLS_CUI:C1334624 semapv:UnspecifiedMatching DOID:2708 mushroom workers' lung oboInOwl:hasDbXref ICD10CM:J67.5 semapv:UnspecifiedMatching @@ -21311,45 +21342,45 @@ DOID:2710 sick building syndrome oboInOwl:hasDbXref MESH:D018877 semapv:Unspecif DOID:2710 sick building syndrome oboInOwl:hasDbXref UMLS_CUI:C0037050 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref UMLS_CUI:C0031538 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref NCI:C26852 semapv:UnspecifiedMatching -DOID:2712 phimosis oboInOwl:hasDbXref MESH:D010688 semapv:UnspecifiedMatching DOID:2712 phimosis oboInOwl:hasDbXref ICD10CM:N47.1 semapv:UnspecifiedMatching +DOID:2712 phimosis oboInOwl:hasDbXref MESH:D010688 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref MESH:D001816 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref NCI:C2903 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref OMIM:210900 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref ORDO:125 semapv:UnspecifiedMatching DOID:2717 Bloom syndrome oboInOwl:hasDbXref UMLS_CUI:C0005859 semapv:UnspecifiedMatching +DOID:2718 hemopneumothorax oboInOwl:hasDbXref ICD10CM:J94.2 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref MESH:D006468 semapv:UnspecifiedMatching DOID:2718 hemopneumothorax oboInOwl:hasDbXref UMLS_CUI:C0019077 semapv:UnspecifiedMatching -DOID:2718 hemopneumothorax oboInOwl:hasDbXref ICD10CM:J94.2 semapv:UnspecifiedMatching DOID:272 hepatic vascular disease oboInOwl:hasDbXref NCI:C35442 semapv:UnspecifiedMatching DOID:272 hepatic vascular disease oboInOwl:hasDbXref UMLS_CUI:C0400923 semapv:UnspecifiedMatching -DOID:2722 acrodermatitis oboInOwl:hasDbXref GARD:5722 semapv:UnspecifiedMatching -DOID:2722 acrodermatitis oboInOwl:hasDbXref MESH:D000169 semapv:UnspecifiedMatching -DOID:2722 acrodermatitis oboInOwl:hasDbXref NCI:C84532 semapv:UnspecifiedMatching DOID:2722 acrodermatitis oboInOwl:hasDbXref UMLS_CUI:C0001197 semapv:UnspecifiedMatching +DOID:2722 acrodermatitis oboInOwl:hasDbXref NCI:C84532 semapv:UnspecifiedMatching DOID:2722 acrodermatitis skos:exactMatch MESH:D000169 semapv:UnspecifiedMatching -DOID:2723 dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011603 semapv:UnspecifiedMatching -DOID:2723 dermatitis oboInOwl:hasDbXref NCI:C2983 semapv:UnspecifiedMatching +DOID:2722 acrodermatitis oboInOwl:hasDbXref GARD:5722 semapv:UnspecifiedMatching +DOID:2722 acrodermatitis oboInOwl:hasDbXref MESH:D000169 semapv:UnspecifiedMatching DOID:2723 dermatitis oboInOwl:hasDbXref ICD10CM:L30.9 semapv:UnspecifiedMatching DOID:2723 dermatitis oboInOwl:hasDbXref MESH:D003872 semapv:UnspecifiedMatching +DOID:2723 dermatitis oboInOwl:hasDbXref NCI:C2983 semapv:UnspecifiedMatching +DOID:2723 dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011603 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref ICD10CM:Q82.5 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref ICDO:9131/0 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref MESH:D018324 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref NCI:C7457 semapv:UnspecifiedMatching DOID:2725 capillary hemangioma oboInOwl:hasDbXref UMLS_CUI:C0206733 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref GARD:10905 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref NCI:C111802 semapv:UnspecifiedMatching +DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref UMLS_CUI:C0265965 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref OMIMPS:127550 semapv:UnspecifiedMatching DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref ORDO:1775 semapv:UnspecifiedMatching -DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref UMLS_CUI:C0265965 semapv:UnspecifiedMatching -DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref UMLS_CUI:C0014527 semapv:UnspecifiedMatching -DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref NCI:C67383 semapv:UnspecifiedMatching +DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref MESH:D019871 semapv:UnspecifiedMatching +DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref GARD:10905 semapv:UnspecifiedMatching +DOID:2729 dyskeratosis congenita oboInOwl:hasDbXref NCI:C111802 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref GARD:6359 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref ICD10CM:Q81 semapv:UnspecifiedMatching DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref MESH:D004820 semapv:UnspecifiedMatching -DOID:2731 vesiculobullous skin disease oboInOwl:hasDbXref MESH:D012872 semapv:UnspecifiedMatching +DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref NCI:C67383 semapv:UnspecifiedMatching +DOID:2730 epidermolysis bullosa oboInOwl:hasDbXref UMLS_CUI:C0014527 semapv:UnspecifiedMatching DOID:2731 vesiculobullous skin disease oboInOwl:hasDbXref UMLS_CUI:C0037275 semapv:UnspecifiedMatching +DOID:2731 vesiculobullous skin disease oboInOwl:hasDbXref MESH:D012872 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref GARD:4392 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref MESH:D011038 semapv:UnspecifiedMatching @@ -21357,22 +21388,22 @@ DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref NCI:C3335 semapv:Unspecif DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome oboInOwl:hasDbXref UMLS_CUI:C0032339 semapv:UnspecifiedMatching DOID:2732 Rothmund-Thomson syndrome skos:exactMatch MESH:D011038 semapv:UnspecifiedMatching -DOID:2733 skin atrophy oboInOwl:hasDbXref ICD10CM:L90 semapv:UnspecifiedMatching -DOID:2733 skin atrophy oboInOwl:hasDbXref NCI:C35163 semapv:UnspecifiedMatching DOID:2733 skin atrophy oboInOwl:hasDbXref UMLS_CUI:C0151514 semapv:UnspecifiedMatching -DOID:2734 keratosis follicularis oboInOwl:hasDbXref UMLS_CUI:C0022595 semapv:UnspecifiedMatching -DOID:2734 keratosis follicularis oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching +DOID:2733 skin atrophy oboInOwl:hasDbXref NCI:C35163 semapv:UnspecifiedMatching +DOID:2733 skin atrophy oboInOwl:hasDbXref ICD10CM:L90 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref ICD10CM:E50.8 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref MESH:D007644 semapv:UnspecifiedMatching DOID:2734 keratosis follicularis oboInOwl:hasDbXref NCI:C84665 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref GARD:508 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D030981 semapv:UnspecifiedMatching +DOID:2734 keratosis follicularis oboInOwl:hasDbXref OMIM:124200 semapv:UnspecifiedMatching +DOID:2734 keratosis follicularis oboInOwl:hasDbXref UMLS_CUI:C0022595 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS_CUI:C0917990 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS_CUI:C0917715 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C84745 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D031845 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref MESH:D030981 semapv:UnspecifiedMatching +DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref GARD:508 semapv:UnspecifiedMatching DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C35545 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref NCI:C84745 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref OMIM:102500 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS_CUI:C0917715 semapv:UnspecifiedMatching -DOID:2736 Hajdu-Cheney syndrome oboInOwl:hasDbXref UMLS_CUI:C0917990 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref ORDO:758 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref UMLS_CUI:C0033847 semapv:UnspecifiedMatching DOID:2738 pseudoxanthoma elasticum oboInOwl:hasDbXref OMIM:264800 semapv:UnspecifiedMatching @@ -21386,9 +21417,9 @@ DOID:2739 Gilbert syndrome oboInOwl:hasDbXref MESH:D005878 semapv:UnspecifiedMat DOID:2739 Gilbert syndrome oboInOwl:hasDbXref NCI:C84729 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref OMIM:143500 semapv:UnspecifiedMatching DOID:2739 Gilbert syndrome oboInOwl:hasDbXref UMLS_CUI:C0017551 semapv:UnspecifiedMatching -DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0020433 semapv:UnspecifiedMatching -DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref NCI:C84761 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0020435 semapv:UnspecifiedMatching +DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref NCI:C84761 semapv:UnspecifiedMatching +DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0020433 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref MESH:D006932 semapv:UnspecifiedMatching DOID:2741 bilirubin metabolic disorder oboInOwl:hasDbXref MESH:D006933 semapv:UnspecifiedMatching DOID:2742 auditory system disease oboInOwl:hasDbXref ICD10CM:H93.9 semapv:UnspecifiedMatching @@ -21399,66 +21430,62 @@ DOID:2742 auditory system disease oboInOwl:hasDbXref UMLS_CUI:C0013447 semapv:Un DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref ICD10CM:N28.85 semapv:UnspecifiedMatching DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref ICD9CM:590.3 semapv:UnspecifiedMatching DOID:2743 pyeloureteritis cystica oboInOwl:hasDbXref UMLS_CUI:C0156254 semapv:UnspecifiedMatching +DOID:2744 pyelitis oboInOwl:hasDbXref UMLS_CUI:C0034183 semapv:UnspecifiedMatching DOID:2744 pyelitis oboInOwl:hasDbXref ICD10CM:N12 semapv:UnspecifiedMatching DOID:2744 pyelitis oboInOwl:hasDbXref MESH:D011702 semapv:UnspecifiedMatching DOID:2744 pyelitis oboInOwl:hasDbXref NCI:C34964 semapv:UnspecifiedMatching -DOID:2744 pyelitis oboInOwl:hasDbXref UMLS_CUI:C0034183 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref UMLS_CUI:C0027402 semapv:UnspecifiedMatching -DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref MESH:D010554 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref NCI:C92635 semapv:UnspecifiedMatching -DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref ICD10CM:F60.81 semapv:UnspecifiedMatching DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref ICD9CM:301.81 semapv:UnspecifiedMatching +DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref ICD10CM:F60.81 semapv:UnspecifiedMatching +DOID:2745 narcissistic personality disorder oboInOwl:hasDbXref MESH:D010554 semapv:UnspecifiedMatching +DOID:2746 glycogen storage disease V oboInOwl:hasDbXref UMLS_CUI:C0017924 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref GARD:6528 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref ICD10CM:E74.04 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref MESH:D006012 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref NCI:C84738 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref OMIM:232600 semapv:UnspecifiedMatching DOID:2746 glycogen storage disease V oboInOwl:hasDbXref ORDO:368 semapv:UnspecifiedMatching -DOID:2746 glycogen storage disease V oboInOwl:hasDbXref UMLS_CUI:C0017924 semapv:UnspecifiedMatching -DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching -DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD9CM:271.0 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref MESH:D006008 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref NCI:C61272 semapv:UnspecifiedMatching +DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD10CM:E74.0 semapv:UnspecifiedMatching +DOID:2747 glycogen storage disease oboInOwl:hasDbXref ICD9CM:271.0 semapv:UnspecifiedMatching DOID:2747 glycogen storage disease oboInOwl:hasDbXref UMLS_CUI:C0017919 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref UMLS_CUI:C0017922 semapv:UnspecifiedMatching +DOID:2748 glycogen storage disease III oboInOwl:hasDbXref NCI:C84736 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref OMIM:232400 semapv:UnspecifiedMatching -DOID:2748 glycogen storage disease III oboInOwl:hasDbXref ICD10CM:E74.03 semapv:UnspecifiedMatching DOID:2748 glycogen storage disease III oboInOwl:hasDbXref MESH:D006010 semapv:UnspecifiedMatching -DOID:2748 glycogen storage disease III oboInOwl:hasDbXref NCI:C84736 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref ICD10CM:E74.01 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref MESH:D005953 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref NCI:C84733 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref OMIM:232220 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching -DOID:2749 glycogen storage disease I oboInOwl:hasDbXref UMLS_CUI:C0017920 semapv:UnspecifiedMatching +DOID:2748 glycogen storage disease III oboInOwl:hasDbXref ICD10CM:E74.03 semapv:UnspecifiedMatching +DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref GARD:7864 semapv:UnspecifiedMatching +DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref OMIM:232200 semapv:UnspecifiedMatching +DOID:2749 glycogen storage disease Ia oboInOwl:hasDbXref ORDO:79258 semapv:UnspecifiedMatching DOID:275 gastric hemangioma oboInOwl:hasDbXref NCI:C5481 semapv:UnspecifiedMatching DOID:275 gastric hemangioma oboInOwl:hasDbXref UMLS_CUI:C1333770 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref UMLS_CUI:C0017923 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref NCI:C84737 semapv:UnspecifiedMatching -DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref GARD:2520 semapv:UnspecifiedMatching +DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref MESH:D006011 semapv:UnspecifiedMatching -DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref MESH:D006015 semapv:UnspecifiedMatching +DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref NCI:C84737 semapv:UnspecifiedMatching +DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref OMIM:232500 semapv:UnspecifiedMatching +DOID:2750 glycogen storage disease IV oboInOwl:hasDbXref UMLS_CUI:C0017923 semapv:UnspecifiedMatching DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref UMLS_CUI:C0017927 semapv:UnspecifiedMatching +DOID:2751 glycogen storage disease VIII oboInOwl:hasDbXref MESH:D006015 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref GARD:5714 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref ICD10CM:E74.02 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref MESH:D006009 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref NCI:C84734 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref OMIM:232300 semapv:UnspecifiedMatching DOID:2752 glycogen storage disease II oboInOwl:hasDbXref UMLS_CUI:C0017921 semapv:UnspecifiedMatching +DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching +DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref MESH:D006013 semapv:UnspecifiedMatching +DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref NCI:C126875 semapv:UnspecifiedMatching +DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref OMIM:232700 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ORDO:369 semapv:UnspecifiedMatching DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref UMLS_CUI:C0017925 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref OMIM:232700 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref NCI:C126875 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref MESH:D006013 semapv:UnspecifiedMatching -DOID:2754 glycogen storage disease VI oboInOwl:hasDbXref ICD10CM:E74.09 semapv:UnspecifiedMatching -DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref GARD:7123 semapv:UnspecifiedMatching -DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref MESH:D015270 semapv:UnspecifiedMatching -DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref NCI:C36197 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref UMLS_CUI:C0026916 semapv:UnspecifiedMatching +DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref NCI:C36197 semapv:UnspecifiedMatching DOID:2755 Mycobacterium avium complex disease skos:exactMatch MESH:D015270 semapv:UnspecifiedMatching +DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref GARD:7123 semapv:UnspecifiedMatching +DOID:2755 Mycobacterium avium complex disease oboInOwl:hasDbXref MESH:D015270 semapv:UnspecifiedMatching DOID:2762 bone carcinoma oboInOwl:hasDbXref NCI:C36082 semapv:UnspecifiedMatching DOID:2762 bone carcinoma oboInOwl:hasDbXref UMLS_CUI:C0700110 semapv:UnspecifiedMatching DOID:2763 ethmoid sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6065 semapv:UnspecifiedMatching @@ -21467,188 +21494,185 @@ DOID:2764 ethmoid sinus adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6238 se DOID:2764 ethmoid sinus adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333473 semapv:UnspecifiedMatching DOID:2766 ethmoid sinus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333472 semapv:UnspecifiedMatching DOID:2766 ethmoid sinus adenocarcinoma oboInOwl:hasDbXref NCI:C6237 semapv:UnspecifiedMatching -DOID:2768 transient tic disorder oboInOwl:hasDbXref UMLS_CUI:C0040702 semapv:UnspecifiedMatching -DOID:2768 transient tic disorder oboInOwl:hasDbXref NCI:C116767 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref ICD10CM:F95.0 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref ICD9CM:307.21 semapv:UnspecifiedMatching DOID:2768 transient tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching -DOID:2769 tic disorder oboInOwl:hasDbXref ICD10CM:F95 semapv:UnspecifiedMatching -DOID:2769 tic disorder oboInOwl:hasDbXref ICD9CM:307.20 semapv:UnspecifiedMatching +DOID:2768 transient tic disorder oboInOwl:hasDbXref NCI:C116767 semapv:UnspecifiedMatching +DOID:2768 transient tic disorder oboInOwl:hasDbXref UMLS_CUI:C0040702 semapv:UnspecifiedMatching DOID:2769 tic disorder oboInOwl:hasDbXref MESH:D013981 semapv:UnspecifiedMatching DOID:2769 tic disorder oboInOwl:hasDbXref UMLS_CUI:C0040188 semapv:UnspecifiedMatching +DOID:2769 tic disorder oboInOwl:hasDbXref ICD9CM:307.20 semapv:UnspecifiedMatching +DOID:2769 tic disorder oboInOwl:hasDbXref ICD10CM:F95 semapv:UnspecifiedMatching DOID:277 chorioangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:277 chorioangioma oboInOwl:hasDbXref NCI:C4868 semapv:UnspecifiedMatching DOID:277 chorioangioma oboInOwl:hasDbXref UMLS_CUI:C0677608 semapv:UnspecifiedMatching -DOID:2770 obsolete diaper rash oboInOwl:hasDbXref UMLS_CUI:C0011974 semapv:UnspecifiedMatching -DOID:2770 obsolete diaper rash oboInOwl:hasDbXref MESH:D003963 semapv:UnspecifiedMatching -DOID:2770 obsolete diaper rash oboInOwl:hasDbXref NCI:C111886 semapv:UnspecifiedMatching DOID:2770 obsolete diaper rash oboInOwl:hasDbXref ICD10CM:L22 semapv:UnspecifiedMatching DOID:2770 obsolete diaper rash oboInOwl:hasDbXref ICD9CM:691.0 semapv:UnspecifiedMatching +DOID:2770 obsolete diaper rash oboInOwl:hasDbXref MESH:D003963 semapv:UnspecifiedMatching +DOID:2770 obsolete diaper rash oboInOwl:hasDbXref NCI:C111886 semapv:UnspecifiedMatching +DOID:2770 obsolete diaper rash oboInOwl:hasDbXref UMLS_CUI:C0011974 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref ICD10CM:L24.9 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref MESH:D017453 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref NCI:C27151 semapv:UnspecifiedMatching DOID:2772 irritant dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162823 semapv:UnspecifiedMatching -DOID:2773 contact dermatitis oboInOwl:hasDbXref ICD10CM:L25.9 semapv:UnspecifiedMatching +DOID:2773 contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011616 semapv:UnspecifiedMatching DOID:2773 contact dermatitis oboInOwl:hasDbXref MESH:D003877 semapv:UnspecifiedMatching +DOID:2773 contact dermatitis oboInOwl:hasDbXref ICD10CM:L25.9 semapv:UnspecifiedMatching DOID:2773 contact dermatitis oboInOwl:hasDbXref NCI:C26743 semapv:UnspecifiedMatching -DOID:2773 contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011616 semapv:UnspecifiedMatching -DOID:2775 long bone adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref NCI:C7644 semapv:UnspecifiedMatching +DOID:2775 long bone adamantinoma oboInOwl:hasDbXref OMIM:102660 semapv:UnspecifiedMatching DOID:2775 long bone adamantinoma oboInOwl:hasDbXref UMLS_CUI:C0334556 semapv:UnspecifiedMatching -DOID:2776 adamantinoma skos:exactMatch MESH:D050398 semapv:UnspecifiedMatching -DOID:2776 adamantinoma oboInOwl:hasDbXref ORDO:55881 semapv:UnspecifiedMatching -DOID:2776 adamantinoma oboInOwl:hasDbXref UMLS_CUI:C0334556 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref MESH:D050398 semapv:UnspecifiedMatching DOID:2776 adamantinoma oboInOwl:hasDbXref NCI:C7644 semapv:UnspecifiedMatching +DOID:2776 adamantinoma oboInOwl:hasDbXref ORDO:55881 semapv:UnspecifiedMatching +DOID:2776 adamantinoma oboInOwl:hasDbXref UMLS_CUI:C0334556 semapv:UnspecifiedMatching +DOID:2776 adamantinoma skos:exactMatch MESH:D050398 semapv:UnspecifiedMatching DOID:2780 rectosigmoid junction neoplasm oboInOwl:hasDbXref NCI:C4877 semapv:UnspecifiedMatching DOID:2780 rectosigmoid junction neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345873 semapv:UnspecifiedMatching DOID:2781 rectosigmoid cancer oboInOwl:hasDbXref NCI:C7421 semapv:UnspecifiedMatching DOID:2781 rectosigmoid cancer oboInOwl:hasDbXref UMLS_CUI:C1327709 semapv:UnspecifiedMatching +DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref UMLS_CUI:C0153443 semapv:UnspecifiedMatching +DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref NCI:C7420 semapv:UnspecifiedMatching DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref ICD10CM:C19 semapv:UnspecifiedMatching DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref ICD9CM:154.0 semapv:UnspecifiedMatching -DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref NCI:C7420 semapv:UnspecifiedMatching -DOID:2782 rectosigmoid junction cancer oboInOwl:hasDbXref UMLS_CUI:C0153443 semapv:UnspecifiedMatching DOID:2784 lung sarcoma oboInOwl:hasDbXref NCI:C4860 semapv:UnspecifiedMatching DOID:2784 lung sarcoma oboInOwl:hasDbXref UMLS_CUI:C0598790 semapv:UnspecifiedMatching +DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref GARD:6242 semapv:UnspecifiedMatching +DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref ICD10CM:Q03.1 semapv:UnspecifiedMatching +DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref MESH:D003616 semapv:UnspecifiedMatching +DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref NCI:C75012 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref OMIM:220200 semapv:UnspecifiedMatching DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref UMLS_CUI:C0010964 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref NCI:C75012 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref MESH:D003616 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref ICD10CM:Q03.1 semapv:UnspecifiedMatching -DOID:2785 Dandy-Walker syndrome oboInOwl:hasDbXref GARD:6242 semapv:UnspecifiedMatching DOID:2786 cerebellar disease oboInOwl:hasDbXref MESH:D002526 semapv:UnspecifiedMatching DOID:2786 cerebellar disease oboInOwl:hasDbXref UMLS_CUI:C0007760 semapv:UnspecifiedMatching -DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref ICD10CM:B64 semapv:UnspecifiedMatching -DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref MESH:D011528 semapv:UnspecifiedMatching DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref NCI:C34953 semapv:UnspecifiedMatching DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref UMLS_CUI:C0033740 semapv:UnspecifiedMatching +DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref MESH:D011528 semapv:UnspecifiedMatching +DOID:2789 parasitic protozoa infectious disease oboInOwl:hasDbXref ICD10CM:B64 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref ICD10CM:B76.1 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref MESH:D009332 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref NCI:C34838 semapv:UnspecifiedMatching DOID:2790 necatoriasis oboInOwl:hasDbXref UMLS_CUI:C0027528 semapv:UnspecifiedMatching +DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84.114 semapv:UnspecifiedMatching DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref MESH:D000080203 semapv:UnspecifiedMatching DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C0085786 semapv:UnspecifiedMatching -DOID:2797 idiopathic interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84.114 semapv:UnspecifiedMatching DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref UMLS_CUI:C0006272 semapv:UnspecifiedMatching -DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref NCI:C62580 semapv:UnspecifiedMatching DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref GARD:9551 semapv:UnspecifiedMatching DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref MESH:D001989 semapv:UnspecifiedMatching +DOID:2799 bronchiolitis obliterans oboInOwl:hasDbXref NCI:C62580 semapv:UnspecifiedMatching +DOID:28 endocrine system disease oboInOwl:hasDbXref UMLS_CUI:C0014130 semapv:UnspecifiedMatching +DOID:28 endocrine system disease oboInOwl:hasDbXref NCI:C3009 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref ICD10CM:E34.9 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref ICD9CM:259.9 semapv:UnspecifiedMatching DOID:28 endocrine system disease oboInOwl:hasDbXref MESH:D004700 semapv:UnspecifiedMatching -DOID:28 endocrine system disease oboInOwl:hasDbXref NCI:C3009 semapv:UnspecifiedMatching -DOID:28 endocrine system disease oboInOwl:hasDbXref UMLS_CUI:C0014130 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref ORDO:79126 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref GARD:12835 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref ICD10CM:J84.114 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref ICD9CM:516.33 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref NCI:C35806 semapv:UnspecifiedMatching DOID:2800 acute interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C1279945 semapv:UnspecifiedMatching -DOID:2801 nonspecific interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C1290344 semapv:UnspecifiedMatching DOID:2801 nonspecific interstitial pneumonia oboInOwl:hasDbXref NCI:C35717 semapv:UnspecifiedMatching -DOID:2810 middle lobe syndrome oboInOwl:hasDbXref MESH:D008878 semapv:UnspecifiedMatching +DOID:2801 nonspecific interstitial pneumonia oboInOwl:hasDbXref UMLS_CUI:C1290344 semapv:UnspecifiedMatching DOID:2810 middle lobe syndrome oboInOwl:hasDbXref UMLS_CUI:C0026069 semapv:UnspecifiedMatching +DOID:2810 middle lobe syndrome oboInOwl:hasDbXref MESH:D008878 semapv:UnspecifiedMatching DOID:2810 middle lobe syndrome skos:exactMatch MESH:D008878 semapv:UnspecifiedMatching -DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref ICD10CM:C72.4 semapv:UnspecifiedMatching DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref NCI:C4539 semapv:UnspecifiedMatching +DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref ICD10CM:C72.4 semapv:UnspecifiedMatching DOID:2814 malignant neoplasm of acoustic nerve oboInOwl:hasDbXref UMLS_CUI:C0346331 semapv:UnspecifiedMatching +DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0010267 semapv:UnspecifiedMatching +DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153644 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref NCI:C3571 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref NCI:C2963 semapv:UnspecifiedMatching -DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0010267 semapv:UnspecifiedMatching -DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref ICD9CM:192.0 semapv:UnspecifiedMatching -DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref ICD10CM:C72.50 semapv:UnspecifiedMatching DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref MESH:D003390 semapv:UnspecifiedMatching -DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153644 semapv:UnspecifiedMatching +DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref ICD10CM:C72.50 semapv:UnspecifiedMatching +DOID:2815 cranial nerve malignant neoplasm oboInOwl:hasDbXref ICD9CM:192.0 semapv:UnspecifiedMatching DOID:2816 malignant oculomotor nerve tumor oboInOwl:hasDbXref NCI:C6995 semapv:UnspecifiedMatching DOID:2816 malignant oculomotor nerve tumor oboInOwl:hasDbXref UMLS_CUI:C0686417 semapv:UnspecifiedMatching DOID:2817 cranial nerve III tumor oboInOwl:hasDbXref NCI:C6994 semapv:UnspecifiedMatching DOID:2817 cranial nerve III tumor oboInOwl:hasDbXref UMLS_CUI:C1263895 semapv:UnspecifiedMatching -DOID:2825 nose disease oboInOwl:hasDbXref UMLS_CUI:C0028432 semapv:UnspecifiedMatching DOID:2825 nose disease oboInOwl:hasDbXref MESH:D009668 semapv:UnspecifiedMatching +DOID:2825 nose disease oboInOwl:hasDbXref UMLS_CUI:C0028432 semapv:UnspecifiedMatching DOID:2828 acalculous cholecystitis skos:exactMatch MESH:D042101 semapv:UnspecifiedMatching DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0267841 semapv:UnspecifiedMatching -DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref NCI:C35578 semapv:UnspecifiedMatching DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref MESH:D042101 semapv:UnspecifiedMatching +DOID:2828 acalculous cholecystitis oboInOwl:hasDbXref NCI:C35578 semapv:UnspecifiedMatching DOID:2832 geotrichosis oboInOwl:hasDbXref ICD10CM:B48.3 semapv:UnspecifiedMatching DOID:2832 geotrichosis oboInOwl:hasDbXref MESH:D005847 semapv:UnspecifiedMatching DOID:2832 geotrichosis oboInOwl:hasDbXref UMLS_CUI:C0017455 semapv:UnspecifiedMatching DOID:2833 dehydration polycythemia oboInOwl:hasDbXref NCI:C27310 semapv:UnspecifiedMatching DOID:2833 dehydration polycythemia oboInOwl:hasDbXref UMLS_CUI:C0856815 semapv:UnspecifiedMatching +DOID:2834 acquired polycythemia oboInOwl:hasDbXref UMLS_CUI:C1318533 semapv:UnspecifiedMatching +DOID:2834 acquired polycythemia oboInOwl:hasDbXref NCI:C27178 semapv:UnspecifiedMatching DOID:2834 acquired polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2834 acquired polycythemia oboInOwl:hasDbXref ICD9CM:289.0 semapv:UnspecifiedMatching -DOID:2834 acquired polycythemia oboInOwl:hasDbXref NCI:C27178 semapv:UnspecifiedMatching -DOID:2834 acquired polycythemia oboInOwl:hasDbXref UMLS_CUI:C1318533 semapv:UnspecifiedMatching DOID:2835 polycythemia due to hypoxia oboInOwl:hasDbXref NCI:C27312 semapv:UnspecifiedMatching DOID:2835 polycythemia due to hypoxia oboInOwl:hasDbXref UMLS_CUI:C0856818 semapv:UnspecifiedMatching +DOID:2838 stress polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2838 stress polycythemia oboInOwl:hasDbXref NCI:C27174 semapv:UnspecifiedMatching DOID:2838 stress polycythemia oboInOwl:hasDbXref UMLS_CUI:C0541719 semapv:UnspecifiedMatching -DOID:2838 stress polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref NCI:C35434 semapv:UnspecifiedMatching DOID:2839 erythropoietin polycythemia oboInOwl:hasDbXref UMLS_CUI:C0391869 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref KEGG:05310 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref EFO:0000270 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref GARD:10246 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref ICD9CM:493 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref MESH:D001249 semapv:UnspecifiedMatching DOID:2841 asthma oboInOwl:hasDbXref NCI:C28397 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref OMIM:600807 semapv:UnspecifiedMatching -DOID:2841 asthma oboInOwl:hasDbXref UMLS_CUI:C0004096 semapv:UnspecifiedMatching DOID:2841 asthma skos:exactMatch MESH:D001249 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref UMLS_CUI:C0004096 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref OMIM:600807 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref MESH:D001249 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref KEGG:05310 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref ICD9CM:493 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref GARD:10246 semapv:UnspecifiedMatching +DOID:2841 asthma oboInOwl:hasDbXref EFO:0000270 semapv:UnspecifiedMatching +DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref GARD:3048 semapv:UnspecifiedMatching +DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv:UnspecifiedMatching +DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref NCI:C84793 semapv:UnspecifiedMatching +DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref UMLS_CUI:C0022387 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref NCI:C84793 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref MESH:D029593 semapv:UnspecifiedMatching -DOID:2842 Jervell-Lange Nielsen syndrome oboInOwl:hasDbXref GARD:3048 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref GARD:6922 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD10CM:I45.81 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD9CM:426.82 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref MESH:D008133 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref NCI:C34786 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref OMIMPS:192500 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:101016 semapv:UnspecifiedMatching -DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:768 semapv:UnspecifiedMatching DOID:2843 long QT syndrome oboInOwl:hasDbXref UMLS_CUI:C0023976 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref UMLS_CUI:C0393774 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref UMLS_CUI:C0006325 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref NCI:C73511 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref MESH:D020186 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref MESH:D002012 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref ICD9CM:327.53 semapv:UnspecifiedMatching -DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:G47.63 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:768 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref ORDO:101016 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref OMIMPS:192500 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref NCI:C34786 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref MESH:D008133 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD9CM:426.82 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref ICD10CM:I45.81 semapv:UnspecifiedMatching +DOID:2843 long QT syndrome oboInOwl:hasDbXref GARD:6922 semapv:UnspecifiedMatching DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:F45.8 semapv:UnspecifiedMatching -DOID:2848 melancholia oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching -DOID:2848 melancholia oboInOwl:hasDbXref NCI:C34812 semapv:UnspecifiedMatching -DOID:2848 melancholia oboInOwl:hasDbXref UMLS_CUI:C0025193 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref GARD:6560 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICD10CM:C91.4 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICD9CM:202.4 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICDO:9940/3 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref MESH:D007943 semapv:UnspecifiedMatching -DOID:285 hairy cell leukemia oboInOwl:hasDbXref NCI:C7402 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref ICD10CM:G47.63 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref ICD9CM:327.53 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref MESH:D002012 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref MESH:D020186 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref NCI:C73511 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref UMLS_CUI:C0006325 semapv:UnspecifiedMatching +DOID:2846 bruxism oboInOwl:hasDbXref UMLS_CUI:C0393774 semapv:UnspecifiedMatching DOID:285 hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023443 semapv:UnspecifiedMatching -DOID:2855 hyperthyroxinemia skos:exactMatch MESH:D006981 semapv:UnspecifiedMatching -DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref UMLS_CUI:C0020551 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref NCI:C7402 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref MESH:D007943 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICDO:9940/3 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICD9CM:202.4 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref ICD10CM:C91.4 semapv:UnspecifiedMatching +DOID:285 hairy cell leukemia oboInOwl:hasDbXref GARD:6560 semapv:UnspecifiedMatching DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref MESH:D006981 semapv:UnspecifiedMatching DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref NCI:C131850 semapv:UnspecifiedMatching +DOID:2855 hyperthyroxinemia oboInOwl:hasDbXref UMLS_CUI:C0020551 semapv:UnspecifiedMatching +DOID:2855 hyperthyroxinemia skos:exactMatch MESH:D006981 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref ICD10CM:E07.81 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref ICD9CM:790.94 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref MESH:D005067 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref NCI:C113170 semapv:UnspecifiedMatching DOID:2856 euthyroid sick syndrome oboInOwl:hasDbXref UMLS_CUI:C0015190 semapv:UnspecifiedMatching -DOID:2859 hemoglobin C disease oboInOwl:hasDbXref GARD:2640 semapv:UnspecifiedMatching -DOID:2859 hemoglobin C disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching -DOID:2859 hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 semapv:UnspecifiedMatching -DOID:2859 hemoglobin C disease oboInOwl:hasDbXref NCI:C34675 semapv:UnspecifiedMatching DOID:2859 hemoglobin C disease oboInOwl:hasDbXref UMLS_CUI:C0019021 semapv:UnspecifiedMatching -DOID:2860 hemoglobinopathy oboInOwl:hasDbXref NCI:C3092 semapv:UnspecifiedMatching -DOID:2860 hemoglobinopathy oboInOwl:hasDbXref UMLS_CUI:C0019045 semapv:UnspecifiedMatching -DOID:2860 hemoglobinopathy oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching +DOID:2859 hemoglobin C disease oboInOwl:hasDbXref NCI:C34675 semapv:UnspecifiedMatching +DOID:2859 hemoglobin C disease oboInOwl:hasDbXref MESH:D006445 semapv:UnspecifiedMatching +DOID:2859 hemoglobin C disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching +DOID:2859 hemoglobin C disease oboInOwl:hasDbXref GARD:2640 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref GARD:12455 semapv:UnspecifiedMatching +DOID:2860 hemoglobinopathy oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:2860 hemoglobinopathy oboInOwl:hasDbXref MESH:D006453 semapv:UnspecifiedMatching +DOID:2860 hemoglobinopathy oboInOwl:hasDbXref NCI:C3092 semapv:UnspecifiedMatching +DOID:2860 hemoglobinopathy oboInOwl:hasDbXref UMLS_CUI:C0019045 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref MESH:D000746 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:206300 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:206400 semapv:UnspecifiedMatching @@ -21656,29 +21680,29 @@ DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:300 DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref ORDO:712 semapv:UnspecifiedMatching DOID:2861 congenital nonspherocytic hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002882 semapv:UnspecifiedMatching +DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C2939465 semapv:UnspecifiedMatching DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref NCI:C98933 semapv:UnspecifiedMatching -DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref GARD:6520 semapv:UnspecifiedMatching DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref MESH:D005955 semapv:UnspecifiedMatching -DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref UMLS_CUI:C2939465 semapv:UnspecifiedMatching +DOID:2862 glucosephosphate dehydrogenase deficiency oboInOwl:hasDbXref GARD:6520 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C6287 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C6290 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C7359 semapv:UnspecifiedMatching +DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279763 semapv:UnspecifiedMatching DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1153706 semapv:UnspecifiedMatching DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336905 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279763 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C7359 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C6290 semapv:UnspecifiedMatching -DOID:2870 endometrial adenocarcinoma oboInOwl:hasDbXref NCI:C6287 semapv:UnspecifiedMatching +DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0476089 semapv:UnspecifiedMatching +DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206687 semapv:UnspecifiedMatching DOID:2871 endometrial carcinoma oboInOwl:hasDbXref MESH:D016889 semapv:UnspecifiedMatching DOID:2871 endometrial carcinoma oboInOwl:hasDbXref MESH:D018269 semapv:UnspecifiedMatching DOID:2871 endometrial carcinoma oboInOwl:hasDbXref NCI:C7558 semapv:UnspecifiedMatching -DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206687 semapv:UnspecifiedMatching -DOID:2871 endometrial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0476089 semapv:UnspecifiedMatching +DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280324 semapv:UnspecifiedMatching DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref NCI:C4044 semapv:UnspecifiedMatching -DOID:2876 laryngeal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280324 semapv:UnspecifiedMatching -DOID:2877 larynx sarcoma oboInOwl:hasDbXref NCI:C6020 semapv:UnspecifiedMatching DOID:2877 larynx sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334377 semapv:UnspecifiedMatching +DOID:2877 larynx sarcoma oboInOwl:hasDbXref NCI:C6020 semapv:UnspecifiedMatching +DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref ICD10CM:H18.45 semapv:UnspecifiedMatching DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref ICD9CM:371.46 semapv:UnspecifiedMatching DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref UMLS_CUI:C0155122 semapv:UnspecifiedMatching -DOID:2879 nodular degeneration of cornea oboInOwl:hasDbXref ICD10CM:H18.45 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref ICD10CM:N80.0 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref ICD9CM:617.0 semapv:UnspecifiedMatching DOID:288 endometriosis of uterus oboInOwl:hasDbXref OMIM:600458 semapv:UnspecifiedMatching @@ -21686,34 +21710,34 @@ DOID:288 endometriosis of uterus oboInOwl:hasDbXref UMLS_CUI:C0341858 semapv:Uns DOID:2883 prostatic adenoma oboInOwl:hasDbXref MESH:D011470 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref NCI:C4795 semapv:UnspecifiedMatching DOID:2883 prostatic adenoma oboInOwl:hasDbXref UMLS_CUI:C0520477 semapv:UnspecifiedMatching -DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref NCI:C5532 semapv:UnspecifiedMatching -DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref NCI:C7574 semapv:UnspecifiedMatching DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1332535 semapv:UnspecifiedMatching DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C1335409 semapv:UnspecifiedMatching -DOID:2887 prostate leiomyoma oboInOwl:hasDbXref NCI:C5544 semapv:UnspecifiedMatching +DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref NCI:C5532 semapv:UnspecifiedMatching +DOID:2885 benign prostate phyllodes tumor oboInOwl:hasDbXref NCI:C7574 semapv:UnspecifiedMatching DOID:2887 prostate leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335510 semapv:UnspecifiedMatching +DOID:2887 prostate leiomyoma oboInOwl:hasDbXref NCI:C5544 semapv:UnspecifiedMatching DOID:2889 retrocochlear disease oboInOwl:hasDbXref MESH:D012181 semapv:UnspecifiedMatching DOID:2889 retrocochlear disease oboInOwl:hasDbXref UMLS_CUI:C0035352 semapv:UnspecifiedMatching -DOID:289 endometriosis oboInOwl:hasDbXref NCI:C3014 semapv:UnspecifiedMatching -DOID:289 endometriosis oboInOwl:hasDbXref UMLS_CUI:C0014175 semapv:UnspecifiedMatching -DOID:289 endometriosis oboInOwl:hasDbXref MESH:D004715 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref EFO:0001065 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref ICD10CM:N80 semapv:UnspecifiedMatching DOID:289 endometriosis oboInOwl:hasDbXref ICD9CM:617 semapv:UnspecifiedMatching +DOID:289 endometriosis oboInOwl:hasDbXref MESH:D004715 semapv:UnspecifiedMatching +DOID:289 endometriosis oboInOwl:hasDbXref NCI:C3014 semapv:UnspecifiedMatching +DOID:289 endometriosis oboInOwl:hasDbXref UMLS_CUI:C0014175 semapv:UnspecifiedMatching +DOID:2891 thyroid adenoma oboInOwl:hasDbXref UMLS_CUI:C0151468 semapv:UnspecifiedMatching DOID:2891 thyroid adenoma oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching DOID:2891 thyroid adenoma oboInOwl:hasDbXref NCI:C3502 semapv:UnspecifiedMatching -DOID:2891 thyroid adenoma oboInOwl:hasDbXref UMLS_CUI:C0151468 semapv:UnspecifiedMatching DOID:2892 exocervical carcinoma oboInOwl:hasDbXref NCI:C7453 semapv:UnspecifiedMatching DOID:2892 exocervical carcinoma oboInOwl:hasDbXref UMLS_CUI:C1299238 semapv:UnspecifiedMatching DOID:2893 cervix carcinoma oboInOwl:hasDbXref NCI:C9039 semapv:UnspecifiedMatching DOID:2893 cervix carcinoma oboInOwl:hasDbXref UMLS_CUI:C0302592 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ORDO:374 semapv:UnspecifiedMatching -DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching -DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref NCI:C84740 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref UMLS_CUI:C0265240 semapv:UnspecifiedMatching -DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching +DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref GARD:6540 semapv:UnspecifiedMatching DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching +DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching +DOID:2907 Goldenhar syndrome oboInOwl:hasDbXref NCI:C84740 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref GARD:9124 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref ICD10CM:Q75.4 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref MESH:D008342 semapv:UnspecifiedMatching @@ -21722,77 +21746,77 @@ DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref OMIMPS:154500 semapv:Unsp DOID:2908 Treacher Collins syndrome oboInOwl:hasDbXref UMLS_CUI:C0242387 semapv:UnspecifiedMatching DOID:2908 Treacher Collins syndrome skos:exactMatch MESH:D008342 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0001339 semapv:UnspecifiedMatching +DOID:2913 acute pancreatitis oboInOwl:hasDbXref NCI:C95437 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref ICD10CM:K85 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref ICD9CM:577.0 semapv:UnspecifiedMatching DOID:2913 acute pancreatitis oboInOwl:hasDbXref MESH:D010195 semapv:UnspecifiedMatching -DOID:2913 acute pancreatitis oboInOwl:hasDbXref NCI:C95437 semapv:UnspecifiedMatching +DOID:2914 immune system disease oboInOwl:hasDbXref EFO:0000540 semapv:UnspecifiedMatching DOID:2914 immune system disease oboInOwl:hasDbXref ICD10CM:D89.9 semapv:UnspecifiedMatching -DOID:2914 immune system disease oboInOwl:hasDbXref UMLS_CUI:C0041806 semapv:UnspecifiedMatching DOID:2914 immune system disease oboInOwl:hasDbXref ICD9CM:279.9 semapv:UnspecifiedMatching -DOID:2914 immune system disease oboInOwl:hasDbXref EFO:0000540 semapv:UnspecifiedMatching +DOID:2914 immune system disease oboInOwl:hasDbXref UMLS_CUI:C0041806 semapv:UnspecifiedMatching DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref ICD10CM:C88.9 semapv:UnspecifiedMatching DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref MESH:D007160 semapv:UnspecifiedMatching DOID:2916 hypersensitivity reaction type IV disease oboInOwl:hasDbXref UMLS_CUI:C0021070 semapv:UnspecifiedMatching -DOID:2917 cryoglobulinemia oboInOwl:hasDbXref GARD:6217 semapv:UnspecifiedMatching -DOID:2917 cryoglobulinemia oboInOwl:hasDbXref ICD10CM:D89.1 semapv:UnspecifiedMatching -DOID:2917 cryoglobulinemia oboInOwl:hasDbXref MESH:D003449 semapv:UnspecifiedMatching DOID:2917 cryoglobulinemia oboInOwl:hasDbXref NCI:C26736 semapv:UnspecifiedMatching +DOID:2917 cryoglobulinemia oboInOwl:hasDbXref MESH:D003449 semapv:UnspecifiedMatching DOID:2917 cryoglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0010403 semapv:UnspecifiedMatching +DOID:2917 cryoglobulinemia oboInOwl:hasDbXref GARD:6217 semapv:UnspecifiedMatching +DOID:2917 cryoglobulinemia oboInOwl:hasDbXref ICD10CM:D89.1 semapv:UnspecifiedMatching DOID:292 lacrimal system cancer oboInOwl:hasDbXref NCI:C5102 semapv:UnspecifiedMatching DOID:292 lacrimal system cancer oboInOwl:hasDbXref UMLS_CUI:C1334361 semapv:UnspecifiedMatching -DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017662 semapv:UnspecifiedMatching -DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref NCI:C34644 semapv:UnspecifiedMatching -DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref GARD:11982 semapv:UnspecifiedMatching DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref MESH:D015432 semapv:UnspecifiedMatching +DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref NCI:C34644 semapv:UnspecifiedMatching +DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref OMIM:305800 semapv:UnspecifiedMatching +DOID:2920 membranoproliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017662 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref GARD:6516 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref MESH:D005921 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref NCI:C26784 semapv:UnspecifiedMatching DOID:2921 glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017658 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref UMLS_CUI:C0022739 semapv:UnspecifiedMatching -DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ORDO:90308 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching +DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ORDO:90308 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref MESH:D007715 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching DOID:2926 Klippel-Trenaunay syndrome oboInOwl:hasDbXref NCI:C84801 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref MESH:D009521 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref NCI:C34849 semapv:UnspecifiedMatching DOID:2929 Newcastle disease oboInOwl:hasDbXref UMLS_CUI:C0027983 semapv:UnspecifiedMatching -DOID:293 lacrimal gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334358 semapv:UnspecifiedMatching DOID:293 lacrimal gland carcinoma oboInOwl:hasDbXref NCI:C6129 semapv:UnspecifiedMatching +DOID:293 lacrimal gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334358 semapv:UnspecifiedMatching DOID:2934 aleutian mink disease oboInOwl:hasDbXref MESH:D000453 semapv:UnspecifiedMatching DOID:2934 aleutian mink disease oboInOwl:hasDbXref UMLS_CUI:C0002016 semapv:UnspecifiedMatching DOID:2934 aleutian mink disease skos:exactMatch MESH:D000453 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref GARD:6035 semapv:UnspecifiedMatching +DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching +DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref NCI:C2941 semapv:UnspecifiedMatching +DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref UMLS_CUI:C0007965 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref ICD10CM:E70.330 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref MESH:D002609 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref NCI:C2941 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref OMIM:214500 semapv:UnspecifiedMatching DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref ORDO:167 semapv:UnspecifiedMatching -DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref UMLS_CUI:C0007965 semapv:UnspecifiedMatching -DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0339124 semapv:UnspecifiedMatching -DOID:294 lacrimal gland cancer oboInOwl:hasDbXref NCI:C4360 semapv:UnspecifiedMatching -DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153627 semapv:UnspecifiedMatching +DOID:2935 Chediak-Higashi syndrome oboInOwl:hasDbXref GARD:6035 semapv:UnspecifiedMatching DOID:294 lacrimal gland cancer oboInOwl:hasDbXref ICD9CM:190.2 semapv:UnspecifiedMatching DOID:294 lacrimal gland cancer oboInOwl:hasDbXref NCI:C3563 semapv:UnspecifiedMatching -DOID:2942 bronchiolitis oboInOwl:hasDbXref MESH:D001988 semapv:UnspecifiedMatching +DOID:294 lacrimal gland cancer oboInOwl:hasDbXref NCI:C4360 semapv:UnspecifiedMatching +DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153627 semapv:UnspecifiedMatching +DOID:294 lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0339124 semapv:UnspecifiedMatching DOID:2942 bronchiolitis oboInOwl:hasDbXref NCI:C39658 semapv:UnspecifiedMatching DOID:2942 bronchiolitis oboInOwl:hasDbXref UMLS_CUI:C0006271 semapv:UnspecifiedMatching +DOID:2942 bronchiolitis oboInOwl:hasDbXref MESH:D001988 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref GARD:9237 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref ICD10CM:J12.81 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref ICD9CM:079.82 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref MESH:D045169 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref NCI:C85064 semapv:UnspecifiedMatching DOID:2945 severe acute respiratory syndrome oboInOwl:hasDbXref UMLS_CUI:C1175175 semapv:UnspecifiedMatching -DOID:295 eye carcinoma oboInOwl:hasDbXref NCI:C6079 semapv:UnspecifiedMatching DOID:295 eye carcinoma oboInOwl:hasDbXref UMLS_CUI:C0848866 semapv:UnspecifiedMatching -DOID:2951 motion sickness oboInOwl:hasDbXref UMLS_CUI:C0026603 semapv:UnspecifiedMatching -DOID:2951 motion sickness oboInOwl:hasDbXref OMIM:158280 semapv:UnspecifiedMatching -DOID:2951 motion sickness oboInOwl:hasDbXref NCI:C34824 semapv:UnspecifiedMatching -DOID:2951 motion sickness oboInOwl:hasDbXref ICD9CM:994.6 semapv:UnspecifiedMatching +DOID:295 eye carcinoma oboInOwl:hasDbXref NCI:C6079 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref ICD10CM:T75.3 semapv:UnspecifiedMatching +DOID:2951 motion sickness oboInOwl:hasDbXref ICD9CM:994.6 semapv:UnspecifiedMatching DOID:2951 motion sickness oboInOwl:hasDbXref MESH:D009041 semapv:UnspecifiedMatching +DOID:2951 motion sickness oboInOwl:hasDbXref NCI:C34824 semapv:UnspecifiedMatching +DOID:2951 motion sickness oboInOwl:hasDbXref OMIM:158280 semapv:UnspecifiedMatching +DOID:2951 motion sickness oboInOwl:hasDbXref UMLS_CUI:C0026603 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref ICD10CM:H83.9 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref MESH:D007759 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref NCI:C128369 semapv:UnspecifiedMatching @@ -21800,12 +21824,12 @@ DOID:2952 inner ear disease oboInOwl:hasDbXref NCI:C27166 semapv:UnspecifiedMatc DOID:2952 inner ear disease oboInOwl:hasDbXref UMLS_CUI:C0022890 semapv:UnspecifiedMatching DOID:2952 inner ear disease oboInOwl:hasDbXref UMLS_CUI:C0494559 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041327 semapv:UnspecifiedMatching -DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref ICD10CM:A15 semapv:UnspecifiedMatching -DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref ICD9CM:011 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref MESH:D014397 semapv:UnspecifiedMatching DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref NCI:C26899 semapv:UnspecifiedMatching -DOID:2959 hyperimmunoglobulin syndrome oboInOwl:hasDbXref UMLS_CUI:C1334069 semapv:UnspecifiedMatching +DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref ICD10CM:A15 semapv:UnspecifiedMatching +DOID:2957 pulmonary tuberculosis oboInOwl:hasDbXref ICD9CM:011 semapv:UnspecifiedMatching DOID:2959 hyperimmunoglobulin syndrome oboInOwl:hasDbXref NCI:C27579 semapv:UnspecifiedMatching +DOID:2959 hyperimmunoglobulin syndrome oboInOwl:hasDbXref UMLS_CUI:C1334069 semapv:UnspecifiedMatching DOID:296 mixed lacrimal gland cancer oboInOwl:hasDbXref NCI:C6804 semapv:UnspecifiedMatching DOID:296 mixed lacrimal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0346342 semapv:UnspecifiedMatching DOID:2960 photosensitive trichothiodystrophy oboInOwl:hasDbXref MESH:D054463 semapv:UnspecifiedMatching @@ -21817,210 +21841,210 @@ DOID:2962 Cockayne syndrome oboInOwl:hasDbXref MESH:D003057 semapv:UnspecifiedMa DOID:2962 Cockayne syndrome oboInOwl:hasDbXref NCI:C9460 semapv:UnspecifiedMatching DOID:2962 Cockayne syndrome oboInOwl:hasDbXref ORDO:191 semapv:UnspecifiedMatching DOID:2962 Cockayne syndrome oboInOwl:hasDbXref UMLS_CUI:C0009207 semapv:UnspecifiedMatching -DOID:2964 periarthritis oboInOwl:hasDbXref MESH:D010489 semapv:UnspecifiedMatching DOID:2964 periarthritis oboInOwl:hasDbXref UMLS_CUI:C0031037 semapv:UnspecifiedMatching DOID:2964 periarthritis oboInOwl:hasDbXref ICD10CM:M77.9 semapv:UnspecifiedMatching -DOID:2965 bursitis oboInOwl:hasDbXref NCI:C94407 semapv:UnspecifiedMatching -DOID:2965 bursitis oboInOwl:hasDbXref UMLS_CUI:C0006444 semapv:UnspecifiedMatching +DOID:2964 periarthritis oboInOwl:hasDbXref MESH:D010489 semapv:UnspecifiedMatching DOID:2965 bursitis oboInOwl:hasDbXref ICD10CM:M71.9 semapv:UnspecifiedMatching DOID:2965 bursitis oboInOwl:hasDbXref MESH:D002062 semapv:UnspecifiedMatching -DOID:297 pleomorphic adenoma carcinoma oboInOwl:hasDbXref UMLS_CUI:C0344460 semapv:UnspecifiedMatching +DOID:2965 bursitis oboInOwl:hasDbXref NCI:C94407 semapv:UnspecifiedMatching +DOID:2965 bursitis oboInOwl:hasDbXref UMLS_CUI:C0006444 semapv:UnspecifiedMatching DOID:297 pleomorphic adenoma carcinoma oboInOwl:hasDbXref NCI:C4397 semapv:UnspecifiedMatching +DOID:297 pleomorphic adenoma carcinoma oboInOwl:hasDbXref UMLS_CUI:C0344460 semapv:UnspecifiedMatching DOID:2972 renal artery obstruction oboInOwl:hasDbXref ICD10CM:N28.0 semapv:UnspecifiedMatching DOID:2972 renal artery obstruction oboInOwl:hasDbXref MESH:D012078 semapv:UnspecifiedMatching DOID:2972 renal artery obstruction oboInOwl:hasDbXref UMLS_CUI:C0035066 semapv:UnspecifiedMatching DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref ICD10CM:N17.1 semapv:UnspecifiedMatching DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref MESH:D007673 semapv:UnspecifiedMatching DOID:2973 kidney cortex necrosis oboInOwl:hasDbXref UMLS_CUI:C0022656 semapv:UnspecifiedMatching -DOID:2975 cystic kidney disease oboInOwl:hasDbXref MESH:D052177 semapv:UnspecifiedMatching DOID:2975 cystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022679 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS_CUI:C0020501 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS_CUI:C0020500 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref OMIMPS:259900 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref NCI:C123158 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ORDO:416 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006959 semapv:UnspecifiedMatching -DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ICD10CM:R82.992 semapv:UnspecifiedMatching +DOID:2975 cystic kidney disease oboInOwl:hasDbXref MESH:D052177 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ICD10CM:E72.53 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ICD10CM:R82.992 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006959 semapv:UnspecifiedMatching DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref MESH:D006960 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref NCI:C123158 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref OMIMPS:259900 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref ORDO:416 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS_CUI:C0020500 semapv:UnspecifiedMatching +DOID:2977 primary hyperoxaluria oboInOwl:hasDbXref UMLS_CUI:C0020501 semapv:UnspecifiedMatching DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref MESH:D002239 semapv:UnspecifiedMatching DOID:2978 carbohydrate metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0007001 semapv:UnspecifiedMatching DOID:298 lacrimal gland adenocarcinoma oboInOwl:hasDbXref NCI:C4541 semapv:UnspecifiedMatching DOID:298 lacrimal gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0346341 semapv:UnspecifiedMatching -DOID:2981 kidney papillary necrosis oboInOwl:hasDbXref UMLS_CUI:C0022667 semapv:UnspecifiedMatching DOID:2981 kidney papillary necrosis oboInOwl:hasDbXref MESH:D007681 semapv:UnspecifiedMatching -DOID:2982 perinephritis oboInOwl:hasDbXref MESH:D010501 semapv:UnspecifiedMatching +DOID:2981 kidney papillary necrosis oboInOwl:hasDbXref UMLS_CUI:C0022667 semapv:UnspecifiedMatching DOID:2982 perinephritis oboInOwl:hasDbXref UMLS_CUI:C0031065 semapv:UnspecifiedMatching +DOID:2982 perinephritis oboInOwl:hasDbXref MESH:D010501 semapv:UnspecifiedMatching DOID:2983 anuria oboInOwl:hasDbXref MESH:D001002 semapv:UnspecifiedMatching DOID:2983 anuria oboInOwl:hasDbXref NCI:C114699 semapv:UnspecifiedMatching DOID:2983 anuria oboInOwl:hasDbXref UMLS_CUI:C0003460 semapv:UnspecifiedMatching -DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017661 semapv:UnspecifiedMatching -DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref OMIM:161950 semapv:UnspecifiedMatching -DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref NCI:C34643 semapv:UnspecifiedMatching -DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref MESH:D005922 semapv:UnspecifiedMatching -DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref GARD:863 semapv:UnspecifiedMatching DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref EFO:0004194 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref GARD:6421 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD9CM:277.31 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref NCI:C84707 semapv:UnspecifiedMatching +DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref GARD:863 semapv:UnspecifiedMatching +DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref MESH:D005922 semapv:UnspecifiedMatching +DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref NCI:C34643 semapv:UnspecifiedMatching +DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref OMIM:161950 semapv:UnspecifiedMatching +DOID:2986 IgA glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0017661 semapv:UnspecifiedMatching DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:134610 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching -DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ORDO:342 semapv:UnspecifiedMatching DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref UMLS_CUI:C0031069 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome skos:exactMatch MESH:D016736 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref UMLS_CUI:C0085278 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref NCI:C61283 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref OMIM:107320 semapv:UnspecifiedMatching -DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref ICD10CM:D68.61 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ORDO:342 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref OMIM:249100 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref MESH:D010505 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD9CM:277.31 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref ICD10CM:M04.1 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref GARD:6421 semapv:UnspecifiedMatching +DOID:2987 familial Mediterranean fever oboInOwl:hasDbXref NCI:C84707 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref GARD:5824 semapv:UnspecifiedMatching +DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref ICD10CM:D68.61 semapv:UnspecifiedMatching DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref MESH:D016736 semapv:UnspecifiedMatching -DOID:299 adenocarcinoma oboInOwl:hasDbXref ICDO:8140/3 semapv:UnspecifiedMatching -DOID:299 adenocarcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching -DOID:299 adenocarcinoma oboInOwl:hasDbXref NCI:C2852 semapv:UnspecifiedMatching +DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref NCI:C61283 semapv:UnspecifiedMatching +DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref OMIM:107320 semapv:UnspecifiedMatching +DOID:2988 antiphospholipid syndrome oboInOwl:hasDbXref UMLS_CUI:C0085278 semapv:UnspecifiedMatching +DOID:2988 antiphospholipid syndrome skos:exactMatch MESH:D016736 semapv:UnspecifiedMatching DOID:299 adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0001418 semapv:UnspecifiedMatching +DOID:299 adenocarcinoma oboInOwl:hasDbXref NCI:C2852 semapv:UnspecifiedMatching DOID:299 adenocarcinoma skos:exactMatch MESH:D000230 semapv:UnspecifiedMatching -DOID:2992 prostate neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5545 semapv:UnspecifiedMatching +DOID:299 adenocarcinoma oboInOwl:hasDbXref ICDO:8140/3 semapv:UnspecifiedMatching +DOID:299 adenocarcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:2992 prostate neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335515 semapv:UnspecifiedMatching +DOID:2992 prostate neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5545 semapv:UnspecifiedMatching DOID:2994 germ cell cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching DOID:2994 germ cell cancer oboInOwl:hasDbXref NCI:C3708 semapv:UnspecifiedMatching DOID:2994 germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0205851 semapv:UnspecifiedMatching DOID:2996 mixed germ cell-sex cord neoplasm oboInOwl:hasDbXref NCI:C5241 semapv:UnspecifiedMatching DOID:2996 mixed germ cell-sex cord neoplasm oboInOwl:hasDbXref UMLS_CUI:C1321220 semapv:UnspecifiedMatching -DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C0206723 semapv:UnspecifiedMatching DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref GARD:9967 semapv:UnspecifiedMatching DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref MESH:D018310 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref GARD:7746 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref ICD10CM:C62 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref ICD9CM:186 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref MESH:D013736 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C3404 semapv:UnspecifiedMatching +DOID:2997 Sertoli-Leydig cell tumor oboInOwl:hasDbXref UMLS_CUI:C0206723 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C1333010 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C0153594 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C0039590 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C5053 semapv:UnspecifiedMatching DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C7251 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C0039590 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C0153594 semapv:UnspecifiedMatching -DOID:2998 testicular cancer oboInOwl:hasDbXref UMLS_CUI:C1333010 semapv:UnspecifiedMatching -DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334401 semapv:UnspecifiedMatching -DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0018206 semapv:UnspecifiedMatching -DOID:2999 granulosa cell tumor oboInOwl:hasDbXref NCI:C4205 semapv:UnspecifiedMatching -DOID:2999 granulosa cell tumor oboInOwl:hasDbXref NCI:C3070 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref MESH:D013736 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref ICD9CM:186 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref ICD10CM:C62 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref GARD:7746 semapv:UnspecifiedMatching +DOID:2998 testicular cancer oboInOwl:hasDbXref NCI:C3404 semapv:UnspecifiedMatching DOID:2999 granulosa cell tumor oboInOwl:hasDbXref MESH:D006106 semapv:UnspecifiedMatching +DOID:2999 granulosa cell tumor oboInOwl:hasDbXref NCI:C3070 semapv:UnspecifiedMatching +DOID:2999 granulosa cell tumor oboInOwl:hasDbXref NCI:C4205 semapv:UnspecifiedMatching +DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0018206 semapv:UnspecifiedMatching +DOID:2999 granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C0334401 semapv:UnspecifiedMatching DOID:3001 female reproductive endometrioid cancer oboInOwl:hasDbXref NCI:C7113 semapv:UnspecifiedMatching DOID:3001 female reproductive endometrioid cancer oboInOwl:hasDbXref UMLS_CUI:C0474809 semapv:UnspecifiedMatching DOID:3002 ovary neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5237 semapv:UnspecifiedMatching DOID:3002 ovary neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335172 semapv:UnspecifiedMatching DOID:3003 nipple benign neoplasm oboInOwl:hasDbXref NCI:C5212 semapv:UnspecifiedMatching DOID:3003 nipple benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1112166 semapv:UnspecifiedMatching -DOID:3004 breast myoepithelial neoplasm oboInOwl:hasDbXref NCI:C40389 semapv:UnspecifiedMatching DOID:3004 breast myoepithelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1511319 semapv:UnspecifiedMatching +DOID:3004 breast myoepithelial neoplasm oboInOwl:hasDbXref NCI:C40389 semapv:UnspecifiedMatching DOID:3007 breast ductal carcinoma oboInOwl:hasDbXref MESH:D044584 semapv:UnspecifiedMatching DOID:3007 breast ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1176475 semapv:UnspecifiedMatching -DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1527349 semapv:UnspecifiedMatching -DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1134719 semapv:UnspecifiedMatching -DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref NCI:C4194 semapv:UnspecifiedMatching -DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref NCI:C4017 semapv:UnspecifiedMatching DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref MESH:D018270 semapv:UnspecifiedMatching +DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref NCI:C4017 semapv:UnspecifiedMatching +DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref NCI:C4194 semapv:UnspecifiedMatching +DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1134719 semapv:UnspecifiedMatching +DOID:3008 invasive ductal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1527349 semapv:UnspecifiedMatching DOID:3009 breast neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5169 semapv:UnspecifiedMatching DOID:3009 breast neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332635 semapv:UnspecifiedMatching DOID:3010 lobular neoplasia oboInOwl:hasDbXref NCI:C27939 semapv:UnspecifiedMatching DOID:3010 lobular neoplasia oboInOwl:hasDbXref UMLS_CUI:C0861352 semapv:UnspecifiedMatching DOID:3011 breast granular cell tumor oboInOwl:hasDbXref NCI:C40400 semapv:UnspecifiedMatching DOID:3011 breast granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1511312 semapv:UnspecifiedMatching -DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref GARD:6902 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref MESH:D016864 semapv:UnspecifiedMatching +DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS_CUI:C0085390 semapv:UnspecifiedMatching +DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref ORDO:524 semapv:UnspecifiedMatching +DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref GARD:6902 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref NCI:C3476 semapv:UnspecifiedMatching DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref OMIMPS:151623 semapv:UnspecifiedMatching -DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref ORDO:524 semapv:UnspecifiedMatching -DOID:3012 Li-Fraumeni syndrome oboInOwl:hasDbXref UMLS_CUI:C0085390 semapv:UnspecifiedMatching -DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0948967 semapv:UnspecifiedMatching DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref NCI:C36083 semapv:UnspecifiedMatching +DOID:3013 intraductal breast benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0948967 semapv:UnspecifiedMatching +DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0346154 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref MESH:D003557 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref NCI:C4275 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref NCI:C4504 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref NCI:C7575 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0238031 semapv:UnspecifiedMatching -DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0346154 semapv:UnspecifiedMatching DOID:3016 breast malignant phyllodes tumor oboInOwl:hasDbXref UMLS_CUI:C0600066 semapv:UnspecifiedMatching -DOID:3017 breast sarcoma oboInOwl:hasDbXref NCI:C4670 semapv:UnspecifiedMatching DOID:3017 breast sarcoma oboInOwl:hasDbXref UMLS_CUI:C0349667 semapv:UnspecifiedMatching -DOID:302 substance abuse oboInOwl:hasDbXref MESH:D019966 semapv:UnspecifiedMatching -DOID:302 substance abuse oboInOwl:hasDbXref NCI:C16522 semapv:UnspecifiedMatching +DOID:3017 breast sarcoma oboInOwl:hasDbXref NCI:C4670 semapv:UnspecifiedMatching DOID:302 substance abuse oboInOwl:hasDbXref UMLS_CUI:C0013146 semapv:UnspecifiedMatching +DOID:302 substance abuse oboInOwl:hasDbXref NCI:C16522 semapv:UnspecifiedMatching +DOID:302 substance abuse oboInOwl:hasDbXref MESH:D019966 semapv:UnspecifiedMatching DOID:3021 acute kidney failure oboInOwl:hasDbXref MESH:D058186 semapv:UnspecifiedMatching DOID:3024 prostatic acinar adenocarcinoma oboInOwl:hasDbXref NCI:C5596 semapv:UnspecifiedMatching DOID:3024 prostatic acinar adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332139 semapv:UnspecifiedMatching -DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref ICDO:8550/3 semapv:UnspecifiedMatching -DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206685 semapv:UnspecifiedMatching -DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref NCI:C3768 semapv:UnspecifiedMatching DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref GARD:8568 semapv:UnspecifiedMatching +DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref ICDO:8550/3 semapv:UnspecifiedMatching DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref MESH:D018267 semapv:UnspecifiedMatching +DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref NCI:C3768 semapv:UnspecifiedMatching +DOID:3025 acinar cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206685 semapv:UnspecifiedMatching DOID:3029 colon mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C7966 semapv:UnspecifiedMatching DOID:3029 colon mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279639 semapv:UnspecifiedMatching -DOID:303 substance-related disorder oboInOwl:hasDbXref MESH:D019966 semapv:UnspecifiedMatching -DOID:303 substance-related disorder oboInOwl:hasDbXref NCI:C92203 semapv:UnspecifiedMatching DOID:303 substance-related disorder oboInOwl:hasDbXref UMLS_CUI:C0236969 semapv:UnspecifiedMatching -DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334368 semapv:UnspecifiedMatching -DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007130 semapv:UnspecifiedMatching -DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C27379 semapv:UnspecifiedMatching -DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C26712 semapv:UnspecifiedMatching +DOID:303 substance-related disorder oboInOwl:hasDbXref NCI:C92203 semapv:UnspecifiedMatching +DOID:303 substance-related disorder oboInOwl:hasDbXref MESH:D019966 semapv:UnspecifiedMatching DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref MESH:D002288 semapv:UnspecifiedMatching +DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C26712 semapv:UnspecifiedMatching +DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C27379 semapv:UnspecifiedMatching +DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007130 semapv:UnspecifiedMatching +DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334368 semapv:UnspecifiedMatching DOID:3030 mucinous adenocarcinoma oboInOwl:hasDbXref ICDO:8480/3 semapv:UnspecifiedMatching DOID:3038 submucosal invasive colon adenocarcinoma oboInOwl:hasDbXref NCI:C38760 semapv:UnspecifiedMatching DOID:3038 submucosal invasive colon adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515024 semapv:UnspecifiedMatching DOID:3039 cecum adenocarcinoma oboInOwl:hasDbXref NCI:C5543 semapv:UnspecifiedMatching DOID:3039 cecum adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332866 semapv:UnspecifiedMatching -DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162820 semapv:UnspecifiedMatching DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref NCI:C26998 semapv:UnspecifiedMatching -DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref ICD10CM:L23 semapv:UnspecifiedMatching DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref MESH:D017449 semapv:UnspecifiedMatching +DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162820 semapv:UnspecifiedMatching +DOID:3042 allergic contact dermatitis oboInOwl:hasDbXref ICD10CM:L23 semapv:UnspecifiedMatching +DOID:3044 food allergy oboInOwl:hasDbXref UMLS_CUI:C0016470 semapv:UnspecifiedMatching DOID:3044 food allergy oboInOwl:hasDbXref MESH:D005512 semapv:UnspecifiedMatching DOID:3044 food allergy oboInOwl:hasDbXref NCI:C172304 semapv:UnspecifiedMatching -DOID:3044 food allergy oboInOwl:hasDbXref UMLS_CUI:C0016470 semapv:UnspecifiedMatching DOID:3047 Wissler-Fanconi syndrome oboInOwl:hasDbXref MESH:D014924 semapv:UnspecifiedMatching DOID:3047 Wissler-Fanconi syndrome oboInOwl:hasDbXref UMLS_CUI:C0043195 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref ICD10CM:M30.1 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref MESH:D015267 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref NCI:C34481 semapv:UnspecifiedMatching DOID:3049 Churg-Strauss syndrome oboInOwl:hasDbXref UMLS_CUI:C0008728 semapv:UnspecifiedMatching -DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007097 semapv:UnspecifiedMatching +DOID:305 carcinoma oboInOwl:hasDbXref NCI:C2916 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C1368683 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C0553707 semapv:UnspecifiedMatching -DOID:305 carcinoma oboInOwl:hasDbXref NCI:C3709 semapv:UnspecifiedMatching +DOID:305 carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007097 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref MESH:D009375 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref MESH:D002277 semapv:UnspecifiedMatching DOID:305 carcinoma oboInOwl:hasDbXref ICDO:8010/3 semapv:UnspecifiedMatching -DOID:305 carcinoma oboInOwl:hasDbXref NCI:C2916 semapv:UnspecifiedMatching +DOID:305 carcinoma oboInOwl:hasDbXref NCI:C3709 semapv:UnspecifiedMatching +DOID:3052 Balkan nephropathy oboInOwl:hasDbXref OMIM:124100 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref ICD10CM:N15.0 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref MESH:D001449 semapv:UnspecifiedMatching -DOID:3052 Balkan nephropathy oboInOwl:hasDbXref OMIM:124100 semapv:UnspecifiedMatching DOID:3052 Balkan nephropathy oboInOwl:hasDbXref UMLS_CUI:C0004698 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD9CM:002.9 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343376 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343375 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34896 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0030528 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34897 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34896 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34895 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343376 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343377 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34894 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD9CM:002.2 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343375 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref MESH:D010284 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref NCI:C34895 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD9CM:002.3 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref UMLS_CUI:C0343377 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD9CM:002.9 semapv:UnspecifiedMatching +DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD9CM:002.2 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD9CM:002.1 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.4 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.3 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.2 semapv:UnspecifiedMatching DOID:3055 paratyphoid fever oboInOwl:hasDbXref ICD10CM:A01.1 semapv:UnspecifiedMatching -DOID:3055 paratyphoid fever oboInOwl:hasDbXref MESH:D010284 semapv:UnspecifiedMatching -DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0017636 semapv:UnspecifiedMatching -DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C9094 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C1514422 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0278878 semapv:UnspecifiedMatching +DOID:3068 glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0017636 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C39750 semapv:UnspecifiedMatching +DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C9094 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching -DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C129295 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref ICDO:9440/3 semapv:UnspecifiedMatching DOID:3068 glioblastoma oboInOwl:hasDbXref GARD:2491 semapv:UnspecifiedMatching +DOID:3068 glioblastoma oboInOwl:hasDbXref NCI:C129295 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref ICDO:9400/3 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref NCI:C4951 semapv:UnspecifiedMatching @@ -22028,15 +22052,15 @@ DOID:3069 malignant astrocytoma oboInOwl:hasDbXref NCI:C60781 semapv:Unspecified DOID:3069 malignant astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0004114 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0750935 semapv:UnspecifiedMatching DOID:3069 malignant astrocytoma skos:exactMatch MESH:D001254 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS_CUI:C0555198 semapv:UnspecifiedMatching +DOID:3070 high grade glioma oboInOwl:hasDbXref OMIMPS:137800 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS_CUI:C0017638 semapv:UnspecifiedMatching +DOID:3070 high grade glioma oboInOwl:hasDbXref UMLS_CUI:C0555198 semapv:UnspecifiedMatching +DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C4822 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref ORDO:182067 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref OMIMPS:137800 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C3059 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref KEGG:05214 semapv:UnspecifiedMatching DOID:3070 high grade glioma oboInOwl:hasDbXref ICDO:9380/3 semapv:UnspecifiedMatching -DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C4822 semapv:UnspecifiedMatching +DOID:3070 high grade glioma oboInOwl:hasDbXref NCI:C3059 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref GARD:5653 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref ICDO:9442/3 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref MESH:D018316 semapv:UnspecifiedMatching @@ -22044,82 +22068,82 @@ DOID:3071 gliosarcoma oboInOwl:hasDbXref NCI:C3796 semapv:UnspecifiedMatching DOID:3071 gliosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206726 semapv:UnspecifiedMatching DOID:3073 brain glioblastoma multiforme oboInOwl:hasDbXref NCI:C4642 semapv:UnspecifiedMatching DOID:3073 brain glioblastoma multiforme oboInOwl:hasDbXref UMLS_CUI:C0349543 semapv:UnspecifiedMatching -DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0334588 semapv:UnspecifiedMatching -DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref NCI:C4325 semapv:UnspecifiedMatching DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref ICDO:9441/3 semapv:UnspecifiedMatching DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref MESH:D005909 semapv:UnspecifiedMatching -DOID:3076 adult astrocytic tumor oboInOwl:hasDbXref NCI:C7049 semapv:UnspecifiedMatching +DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref NCI:C4325 semapv:UnspecifiedMatching +DOID:3074 giant cell glioblastoma oboInOwl:hasDbXref UMLS_CUI:C0334588 semapv:UnspecifiedMatching DOID:3076 adult astrocytic tumor oboInOwl:hasDbXref UMLS_CUI:C1332183 semapv:UnspecifiedMatching +DOID:3076 adult astrocytic tumor oboInOwl:hasDbXref NCI:C7049 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref GARD:5860 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref NCI:C9477 semapv:UnspecifiedMatching DOID:3078 anaplastic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334579 semapv:UnspecifiedMatching DOID:3079 childhood astrocytic tumor oboInOwl:hasDbXref NCI:C9022 semapv:UnspecifiedMatching DOID:3079 childhood astrocytic tumor oboInOwl:hasDbXref UMLS_CUI:C1321865 semapv:UnspecifiedMatching -DOID:308 early myoclonic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0014550 semapv:UnspecifiedMatching DOID:308 early myoclonic encephalopathy oboInOwl:hasDbXref MESH:D004831 semapv:UnspecifiedMatching -DOID:3081 cystic lymphangioma oboInOwl:hasDbXref UMLS_CUI:C0206620 semapv:UnspecifiedMatching -DOID:3081 cystic lymphangioma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching -DOID:3081 cystic lymphangioma oboInOwl:hasDbXref NCI:C3724 semapv:UnspecifiedMatching +DOID:308 early myoclonic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0014550 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref GARD:6234 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref ICDO:9173/0 semapv:UnspecifiedMatching DOID:3081 cystic lymphangioma oboInOwl:hasDbXref MESH:D018191 semapv:UnspecifiedMatching +DOID:3081 cystic lymphangioma oboInOwl:hasDbXref NCI:C3724 semapv:UnspecifiedMatching +DOID:3081 cystic lymphangioma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching +DOID:3081 cystic lymphangioma oboInOwl:hasDbXref UMLS_CUI:C0206620 semapv:UnspecifiedMatching +DOID:3082 interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref NCI:C164315 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref GARD:13336 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref ICD10CM:J84.9 semapv:UnspecifiedMatching -DOID:3082 interstitial lung disease oboInOwl:hasDbXref MESH:D017563 semapv:UnspecifiedMatching DOID:3082 interstitial lung disease oboInOwl:hasDbXref UMLS_CUI:C0206062 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref OMIM:606963 semapv:UnspecifiedMatching -DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref NCI:C3199 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref UMLS_CUI:C0024117 semapv:UnspecifiedMatching +DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref NCI:C3199 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref ICD10CM:J44.9 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref EFO:0000341 semapv:UnspecifiedMatching DOID:3083 chronic obstructive pulmonary disease oboInOwl:hasDbXref MESH:D029424 semapv:UnspecifiedMatching +DOID:3086 gingival overgrowth oboInOwl:hasDbXref ICD10CM:K06.1 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref MESH:D019214 semapv:UnspecifiedMatching DOID:3086 gingival overgrowth oboInOwl:hasDbXref UMLS_CUI:C0376480 semapv:UnspecifiedMatching -DOID:3086 gingival overgrowth oboInOwl:hasDbXref ICD10CM:K06.1 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0017574 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0008684 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.10 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0155937 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref NCI:C34636 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0017574 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref NCI:C34474 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.0 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref ICD9CM:523.1 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref MESH:D005891 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref UMLS_CUI:C0155937 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref ICD9CM:523.0 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.10 semapv:UnspecifiedMatching DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.1 semapv:UnspecifiedMatching -DOID:3087 gingivitis oboInOwl:hasDbXref MESH:D005891 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref ICD10CM:K05.0 semapv:UnspecifiedMatching +DOID:3087 gingivitis oboInOwl:hasDbXref ICD9CM:523.1 semapv:UnspecifiedMatching DOID:3089 granulomatous orchitis oboInOwl:hasDbXref NCI:C27162 semapv:UnspecifiedMatching DOID:3089 granulomatous orchitis oboInOwl:hasDbXref UMLS_CUI:C0436545 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C1334956 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0153643 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0027665 semapv:UnspecifiedMatching +DOID:3093 nervous system cancer oboInOwl:hasDbXref NCI:C35562 semapv:UnspecifiedMatching DOID:3093 nervous system cancer oboInOwl:hasDbXref ICD9CM:192.9 semapv:UnspecifiedMatching DOID:3093 nervous system cancer oboInOwl:hasDbXref MESH:D009380 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref NCI:C35562 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0027665 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0153643 semapv:UnspecifiedMatching -DOID:3093 nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C1334956 semapv:UnspecifiedMatching -DOID:3095 germ cell and embryonal cancer oboInOwl:hasDbXref UMLS_CUI:C0027658 semapv:UnspecifiedMatching DOID:3095 germ cell and embryonal cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching +DOID:3095 germ cell and embryonal cancer oboInOwl:hasDbXref UMLS_CUI:C0027658 semapv:UnspecifiedMatching DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref ICD10CM:H04.57 semapv:UnspecifiedMatching DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref ICD9CM:375.54 semapv:UnspecifiedMatching DOID:3096 stenosis of lacrimal sac oboInOwl:hasDbXref UMLS_CUI:C0155246 semapv:UnspecifiedMatching +DOID:3098 small cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206652 semapv:UnspecifiedMatching +DOID:3098 small cell sarcoma oboInOwl:hasDbXref NCI:C3746 semapv:UnspecifiedMatching DOID:3098 small cell sarcoma oboInOwl:hasDbXref ICDO:8803/3 semapv:UnspecifiedMatching DOID:3098 small cell sarcoma oboInOwl:hasDbXref MESH:D018228 semapv:UnspecifiedMatching -DOID:3098 small cell sarcoma oboInOwl:hasDbXref NCI:C3746 semapv:UnspecifiedMatching -DOID:3098 small cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206652 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref ICD10CM:E88.42 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref MESH:D017243 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref NCI:C84889 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref OMIM:545000 semapv:UnspecifiedMatching DOID:310 MERRF syndrome oboInOwl:hasDbXref UMLS_CUI:C0162672 semapv:UnspecifiedMatching -DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref UMLS_CUI:C0039984 semapv:UnspecifiedMatching -DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching -DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref NCI:C85188 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref GARD:7759 semapv:UnspecifiedMatching DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref ICD10CM:G54.0 semapv:UnspecifiedMatching +DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching +DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref NCI:C85188 semapv:UnspecifiedMatching +DOID:3103 thoracic outlet syndrome oboInOwl:hasDbXref UMLS_CUI:C0039984 semapv:UnspecifiedMatching DOID:3107 toxascariasis oboInOwl:hasDbXref MESH:D017227 semapv:UnspecifiedMatching DOID:3107 toxascariasis oboInOwl:hasDbXref UMLS_CUI:C0040522 semapv:UnspecifiedMatching -DOID:3108 ascaridiasis oboInOwl:hasDbXref MESH:D001198 semapv:UnspecifiedMatching DOID:3108 ascaridiasis oboInOwl:hasDbXref UMLS_CUI:C0003952 semapv:UnspecifiedMatching +DOID:3108 ascaridiasis oboInOwl:hasDbXref MESH:D001198 semapv:UnspecifiedMatching DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref MESH:D018344 semapv:UnspecifiedMatching DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref NCI:C84780 semapv:UnspecifiedMatching DOID:3109 idiopathic CD4-positive T-lymphocytopenia oboInOwl:hasDbXref UMLS_CUI:C0206744 semapv:UnspecifiedMatching @@ -22128,62 +22152,61 @@ DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref ICDO:8450/3 semapv:Uns DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref MESH:D018283 semapv:UnspecifiedMatching DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref NCI:C3777 semapv:UnspecifiedMatching DOID:3110 papillary cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206700 semapv:UnspecifiedMatching -DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref MESH:D003536 semapv:UnspecifiedMatching +DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref NCI:C2971 semapv:UnspecifiedMatching DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0010631 semapv:UnspecifiedMatching DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref ICDO:8440/3 semapv:UnspecifiedMatching -DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref NCI:C2971 semapv:UnspecifiedMatching +DOID:3111 cystadenocarcinoma oboInOwl:hasDbXref MESH:D003536 semapv:UnspecifiedMatching +DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0001420 semapv:UnspecifiedMatching +DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref NCI:C2853 semapv:UnspecifiedMatching DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref ICDO:8260/3 semapv:UnspecifiedMatching DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref MESH:D000231 semapv:UnspecifiedMatching -DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref NCI:C2853 semapv:UnspecifiedMatching -DOID:3112 papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0001420 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref ICDO:8050/3 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref MESH:D002291 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref NCI:C2927 semapv:UnspecifiedMatching DOID:3113 papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007133 semapv:UnspecifiedMatching -DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C3778 semapv:UnspecifiedMatching DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref MESH:D018284 semapv:UnspecifiedMatching +DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C3778 semapv:UnspecifiedMatching DOID:3114 serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206701 semapv:UnspecifiedMatching DOID:3116 kidney benign neoplasm oboInOwl:hasDbXref NCI:C7514 semapv:UnspecifiedMatching DOID:3116 kidney benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334323 semapv:UnspecifiedMatching -DOID:3117 hepatobiliary benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0854196 semapv:UnspecifiedMatching DOID:3117 hepatobiliary benign neoplasm oboInOwl:hasDbXref NCI:C8614 semapv:UnspecifiedMatching -DOID:3118 hepatobiliary disease oboInOwl:hasDbXref MESH:D004066 semapv:UnspecifiedMatching -DOID:3118 hepatobiliary disease oboInOwl:hasDbXref NCI:C3959 semapv:UnspecifiedMatching +DOID:3117 hepatobiliary benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0854196 semapv:UnspecifiedMatching DOID:3118 hepatobiliary disease oboInOwl:hasDbXref UMLS_CUI:C0267792 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref ICD10CM:C26.9 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref ICD9CM:239.0 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref MESH:D004067 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref MESH:D005770 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref NCI:C3052 semapv:UnspecifiedMatching -DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref NCI:C4890 semapv:UnspecifiedMatching +DOID:3118 hepatobiliary disease oboInOwl:hasDbXref NCI:C3959 semapv:UnspecifiedMatching +DOID:3118 hepatobiliary disease oboInOwl:hasDbXref MESH:D004066 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS_CUI:C0012243 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS_CUI:C0017185 semapv:UnspecifiedMatching DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref UMLS_CUI:C0685938 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref NCI:C4890 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref ICD10CM:C26.9 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref MESH:D005770 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref MESH:D004067 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref ICD9CM:239.0 semapv:UnspecifiedMatching +DOID:3119 gastrointestinal system cancer oboInOwl:hasDbXref NCI:C3052 semapv:UnspecifiedMatching DOID:312 tenosynovitis of foot and ankle oboInOwl:hasDbXref ICD9CM:727.06 semapv:UnspecifiedMatching DOID:312 tenosynovitis of foot and ankle oboInOwl:hasDbXref UMLS_CUI:C0158331 semapv:UnspecifiedMatching DOID:3120 gallbladder papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1333754 semapv:UnspecifiedMatching DOID:3120 gallbladder papillomatosis oboInOwl:hasDbXref NCI:C7130 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref GARD:9328 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref ICD10CM:C23 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0153452 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref ICD9CM:156.0 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref MESH:D005706 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C3048 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C35676 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C7481 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0016978 semapv:UnspecifiedMatching -DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0153452 semapv:UnspecifiedMatching DOID:3121 gallbladder cancer oboInOwl:hasDbXref UMLS_CUI:C0278806 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C7481 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref ICD10CM:C23 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C3048 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref MESH:D005706 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref GARD:9328 semapv:UnspecifiedMatching +DOID:3121 gallbladder cancer oboInOwl:hasDbXref NCI:C35676 semapv:UnspecifiedMatching DOID:3122 gastric outlet obstruction oboInOwl:hasDbXref MESH:D017219 semapv:UnspecifiedMatching DOID:3122 gastric outlet obstruction oboInOwl:hasDbXref UMLS_CUI:C0162651 semapv:UnspecifiedMatching DOID:3125 multiple endocrine neoplasia oboInOwl:hasDbXref MESH:D009377 semapv:UnspecifiedMatching -DOID:3127 proctitis oboInOwl:hasDbXref UMLS_CUI:C0033246 semapv:UnspecifiedMatching -DOID:3127 proctitis oboInOwl:hasDbXref MESH:D011349 semapv:UnspecifiedMatching DOID:3127 proctitis oboInOwl:hasDbXref ICD10CM:K62.89 semapv:UnspecifiedMatching +DOID:3127 proctitis oboInOwl:hasDbXref MESH:D011349 semapv:UnspecifiedMatching DOID:3127 proctitis oboInOwl:hasDbXref NCI:C38011 semapv:UnspecifiedMatching -DOID:3128 anus disease oboInOwl:hasDbXref MESH:D001004 semapv:UnspecifiedMatching -DOID:3128 anus disease oboInOwl:hasDbXref NCI:C26695 semapv:UnspecifiedMatching +DOID:3127 proctitis oboInOwl:hasDbXref UMLS_CUI:C0033246 semapv:UnspecifiedMatching DOID:3128 anus disease oboInOwl:hasDbXref UMLS_CUI:C0003462 semapv:UnspecifiedMatching -DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref UMLS_CUI:C0162566 semapv:UnspecifiedMatching +DOID:3128 anus disease oboInOwl:hasDbXref NCI:C26695 semapv:UnspecifiedMatching +DOID:3128 anus disease oboInOwl:hasDbXref MESH:D001004 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref GARD:7433 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref ICD10CM:E80.1 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref MESH:D017119 semapv:UnspecifiedMatching @@ -22191,77 +22214,78 @@ DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref NCI:C27725 semapv:Unspecifi DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176090 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref ORDO:101330 semapv:UnspecifiedMatching -DOID:3133 acute porphyria oboInOwl:hasDbXref UMLS_CUI:C0162533 semapv:UnspecifiedMatching +DOID:3132 porphyria cutanea tarda oboInOwl:hasDbXref UMLS_CUI:C0162566 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref ORDO:100924 semapv:UnspecifiedMatching -DOID:3133 acute porphyria oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching DOID:3133 acute porphyria oboInOwl:hasDbXref MESH:D017094 semapv:UnspecifiedMatching +DOID:3133 acute porphyria oboInOwl:hasDbXref OMIM:612740 semapv:UnspecifiedMatching +DOID:3133 acute porphyria oboInOwl:hasDbXref UMLS_CUI:C0162533 semapv:UnspecifiedMatching DOID:3134 facial dermatosis oboInOwl:hasDbXref MESH:D005148 semapv:UnspecifiedMatching DOID:3134 facial dermatosis oboInOwl:hasDbXref UMLS_CUI:C0015456 semapv:UnspecifiedMatching -DOID:3136 scalp dermatosis oboInOwl:hasDbXref MESH:D012536 semapv:UnspecifiedMatching DOID:3136 scalp dermatosis oboInOwl:hasDbXref UMLS_CUI:C0036271 semapv:UnspecifiedMatching +DOID:3136 scalp dermatosis oboInOwl:hasDbXref MESH:D012536 semapv:UnspecifiedMatching +DOID:3138 acanthosis nigricans oboInOwl:hasDbXref GARD:8603 semapv:UnspecifiedMatching +DOID:3138 acanthosis nigricans oboInOwl:hasDbXref ICD10CM:L83 semapv:UnspecifiedMatching +DOID:3138 acanthosis nigricans oboInOwl:hasDbXref MESH:D000052 semapv:UnspecifiedMatching +DOID:3138 acanthosis nigricans oboInOwl:hasDbXref NCI:C26687 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref OMIM:100600 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref OMIM:200170 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref NCI:C26687 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans oboInOwl:hasDbXref UMLS_CUI:C0000889 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref ICD10CM:L83 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref GARD:8603 semapv:UnspecifiedMatching -DOID:3138 acanthosis nigricans oboInOwl:hasDbXref MESH:D000052 semapv:UnspecifiedMatching DOID:3138 acanthosis nigricans skos:exactMatch MESH:D000052 semapv:UnspecifiedMatching -DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C1318543 semapv:UnspecifiedMatching +DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICD9CM:727.02 semapv:UnspecifiedMatching +DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICDO:9252/0 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref MESH:D000070779 semapv:UnspecifiedMatching DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref NCI:C3402 semapv:UnspecifiedMatching -DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICDO:9252/0 semapv:UnspecifiedMatching -DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref ICD9CM:727.02 semapv:UnspecifiedMatching -DOID:3140 scleredema adultorum oboInOwl:hasDbXref GARD:5975 semapv:UnspecifiedMatching -DOID:3140 scleredema adultorum oboInOwl:hasDbXref MESH:D012592 semapv:UnspecifiedMatching -DOID:3140 scleredema adultorum oboInOwl:hasDbXref NCI:C85057 semapv:UnspecifiedMatching +DOID:314 tenosynovial giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C1318543 semapv:UnspecifiedMatching DOID:3140 scleredema adultorum oboInOwl:hasDbXref UMLS_CUI:C0036413 semapv:UnspecifiedMatching +DOID:3140 scleredema adultorum oboInOwl:hasDbXref NCI:C85057 semapv:UnspecifiedMatching +DOID:3140 scleredema adultorum oboInOwl:hasDbXref MESH:D012592 semapv:UnspecifiedMatching +DOID:3140 scleredema adultorum oboInOwl:hasDbXref GARD:5975 semapv:UnspecifiedMatching DOID:3141 mucinoses oboInOwl:hasDbXref MESH:D017520 semapv:UnspecifiedMatching DOID:3141 mucinoses oboInOwl:hasDbXref UMLS_CUI:C0162855 semapv:UnspecifiedMatching DOID:3142 leg dermatosis oboInOwl:hasDbXref MESH:D007868 semapv:UnspecifiedMatching DOID:3142 leg dermatosis oboInOwl:hasDbXref UMLS_CUI:C0023219 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref UMLS_CUI:C0010495 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref OMIMPS:123700 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref NCI:C84663 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref ORDO:209 semapv:UnspecifiedMatching +DOID:3144 cutis laxa oboInOwl:hasDbXref GARD:6227 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:3144 cutis laxa oboInOwl:hasDbXref MESH:D003483 semapv:UnspecifiedMatching -DOID:3144 cutis laxa oboInOwl:hasDbXref GARD:6227 semapv:UnspecifiedMatching -DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref MESH:D006952 semapv:UnspecifiedMatching -DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref NCI:C34710 semapv:UnspecifiedMatching -DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching +DOID:3144 cutis laxa oboInOwl:hasDbXref NCI:C84663 semapv:UnspecifiedMatching +DOID:3144 cutis laxa oboInOwl:hasDbXref OMIMPS:123700 semapv:UnspecifiedMatching +DOID:3144 cutis laxa oboInOwl:hasDbXref ORDO:209 semapv:UnspecifiedMatching +DOID:3144 cutis laxa oboInOwl:hasDbXref UMLS_CUI:C0010495 semapv:UnspecifiedMatching DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref UMLS_CUI:C0020479 semapv:UnspecifiedMatching -DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref UMLS_CUI:C0023772 semapv:UnspecifiedMatching +DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref OMIM:617347 semapv:UnspecifiedMatching +DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref NCI:C34710 semapv:UnspecifiedMatching +DOID:3145 hyperlipoproteinemia type III oboInOwl:hasDbXref MESH:D006952 semapv:UnspecifiedMatching DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref MESH:D008052 semapv:UnspecifiedMatching +DOID:3146 lipid metabolism disorder oboInOwl:hasDbXref UMLS_CUI:C0023772 semapv:UnspecifiedMatching DOID:3148 dermal unilateral segmental cavernous angioma oboInOwl:hasDbXref UMLS_CUI:C0474966 semapv:UnspecifiedMatching DOID:3149 keratoacanthoma oboInOwl:hasDbXref MESH:D007636 semapv:UnspecifiedMatching DOID:3149 keratoacanthoma oboInOwl:hasDbXref NCI:C3146 semapv:UnspecifiedMatching DOID:3149 keratoacanthoma oboInOwl:hasDbXref UMLS_CUI:C0022572 semapv:UnspecifiedMatching DOID:315 synovium neoplasm oboInOwl:hasDbXref NCI:C8964 semapv:UnspecifiedMatching DOID:315 synovium neoplasm oboInOwl:hasDbXref UMLS_CUI:C0476203 semapv:UnspecifiedMatching -DOID:3151 skin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0553723 semapv:UnspecifiedMatching DOID:3151 skin squamous cell carcinoma oboInOwl:hasDbXref NCI:C4819 semapv:UnspecifiedMatching -DOID:3153 lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0023801 semapv:UnspecifiedMatching +DOID:3151 skin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0553723 semapv:UnspecifiedMatching DOID:3153 lipomatosis oboInOwl:hasDbXref ICD10CM:E88.2 semapv:UnspecifiedMatching DOID:3153 lipomatosis oboInOwl:hasDbXref MESH:D008068 semapv:UnspecifiedMatching +DOID:3153 lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0023801 semapv:UnspecifiedMatching +DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref UMLS_CUI:C0022283 semapv:UnspecifiedMatching +DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref OMIM:300337 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref MESH:D010859 semapv:UnspecifiedMatching DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref NCI:C7582 semapv:UnspecifiedMatching -DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref OMIM:300337 semapv:UnspecifiedMatching -DOID:3156 hypomelanosis of Ito oboInOwl:hasDbXref UMLS_CUI:C0022283 semapv:UnspecifiedMatching DOID:3158 hand dermatosis oboInOwl:hasDbXref MESH:D006229 semapv:UnspecifiedMatching DOID:3158 hand dermatosis oboInOwl:hasDbXref UMLS_CUI:C0018567 semapv:UnspecifiedMatching DOID:3159 photosensitivity disease oboInOwl:hasDbXref MESH:D010787 semapv:UnspecifiedMatching DOID:3159 photosensitivity disease oboInOwl:hasDbXref UMLS_CUI:C0031762 semapv:UnspecifiedMatching DOID:3162 malignant spindle cell melanoma oboInOwl:hasDbXref NCI:C4237 semapv:UnspecifiedMatching DOID:3162 malignant spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C0334444 semapv:UnspecifiedMatching -DOID:3165 skin benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0037286 semapv:UnspecifiedMatching DOID:3165 skin benign neoplasm oboInOwl:hasDbXref MESH:D012878 semapv:UnspecifiedMatching DOID:3165 skin benign neoplasm oboInOwl:hasDbXref NCI:C3372 semapv:UnspecifiedMatching +DOID:3165 skin benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0037286 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref UMLS_CUI:C0023501 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref NCI:C3185 semapv:UnspecifiedMatching -DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref ICD10CM:D72.823 semapv:UnspecifiedMatching -DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref ICD9CM:288.62 semapv:UnspecifiedMatching DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref MESH:D007955 semapv:UnspecifiedMatching +DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref ICD9CM:288.62 semapv:UnspecifiedMatching +DOID:3166 obsolete leukemoid reaction oboInOwl:hasDbXref ICD10CM:D72.823 semapv:UnspecifiedMatching DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref MESH:D018307 semapv:UnspecifiedMatching DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref NCI:C3792 semapv:UnspecifiedMatching DOID:3168 squamous cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0206720 semapv:UnspecifiedMatching @@ -22271,11 +22295,11 @@ DOID:3172 papillary adenoma oboInOwl:hasDbXref NCI:C79951 semapv:UnspecifiedMatc DOID:3172 papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C0205650 semapv:UnspecifiedMatching DOID:3173 fallopian tube serous papilloma oboInOwl:hasDbXref NCI:C40112 semapv:UnspecifiedMatching DOID:3173 fallopian tube serous papilloma oboInOwl:hasDbXref UMLS_CUI:C1517123 semapv:UnspecifiedMatching -DOID:3177 verrucous papilloma oboInOwl:hasDbXref UMLS_CUI:C0334243 semapv:UnspecifiedMatching -DOID:3177 verrucous papilloma oboInOwl:hasDbXref NCI:C4101 semapv:UnspecifiedMatching DOID:3177 verrucous papilloma oboInOwl:hasDbXref ICDO:8051/0 semapv:UnspecifiedMatching -DOID:3178 skin papilloma oboInOwl:hasDbXref NCI:C4614 semapv:UnspecifiedMatching +DOID:3177 verrucous papilloma oboInOwl:hasDbXref NCI:C4101 semapv:UnspecifiedMatching +DOID:3177 verrucous papilloma oboInOwl:hasDbXref UMLS_CUI:C0334243 semapv:UnspecifiedMatching DOID:3178 skin papilloma oboInOwl:hasDbXref UMLS_CUI:C0347390 semapv:UnspecifiedMatching +DOID:3178 skin papilloma oboInOwl:hasDbXref NCI:C4614 semapv:UnspecifiedMatching DOID:3179 inverted papilloma oboInOwl:hasDbXref MESH:D018308 semapv:UnspecifiedMatching DOID:3179 inverted papilloma oboInOwl:hasDbXref NCI:C3793 semapv:UnspecifiedMatching DOID:3179 inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C0206721 semapv:UnspecifiedMatching @@ -22290,8 +22314,8 @@ DOID:3181 oligodendroglioma oboInOwl:hasDbXref NCI:C3288 semapv:UnspecifiedMatch DOID:3181 oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0751396 semapv:UnspecifiedMatching DOID:3181 oligodendroglioma skos:exactMatch MESH:D009837 semapv:UnspecifiedMatching DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0280475 semapv:UnspecifiedMatching -DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref NCI:C4045 semapv:UnspecifiedMatching +DOID:3183 childhood oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:3184 spinal cord oligodendroglioma oboInOwl:hasDbXref NCI:C4535 semapv:UnspecifiedMatching DOID:3184 spinal cord oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0346295 semapv:UnspecifiedMatching DOID:3185 spinal cord glioma oboInOwl:hasDbXref NCI:C4534 semapv:UnspecifiedMatching @@ -22304,10 +22328,10 @@ DOID:3186 adult oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C1332190 semapv:Un DOID:3187 brain oligodendroglioma oboInOwl:hasDbXref NCI:C9377 semapv:UnspecifiedMatching DOID:3187 brain oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0346286 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref UMLS_CUI:C0037928 semapv:UnspecifiedMatching +DOID:319 spinal cord disease oboInOwl:hasDbXref MESH:D013118 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref NCI:C97110 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref ICD10CM:G95.9 semapv:UnspecifiedMatching DOID:319 spinal cord disease oboInOwl:hasDbXref ICD9CM:336.9 semapv:UnspecifiedMatching -DOID:319 spinal cord disease oboInOwl:hasDbXref MESH:D013118 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref GARD:12033 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref ICD10CM:G71.21 semapv:UnspecifiedMatching DOID:3191 nemaline myopathy oboInOwl:hasDbXref MESH:D017696 semapv:UnspecifiedMatching @@ -22318,14 +22342,14 @@ DOID:3192 neurilemmoma oboInOwl:hasDbXref ICDO:9560/3 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref MESH:D009442 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref NCI:C3269 semapv:UnspecifiedMatching DOID:3192 neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C0027809 semapv:UnspecifiedMatching -DOID:3193 peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS_CUI:C0751689 semapv:UnspecifiedMatching DOID:3193 peripheral nerve sheath neoplasm oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching +DOID:3193 peripheral nerve sheath neoplasm oboInOwl:hasDbXref UMLS_CUI:C0751689 semapv:UnspecifiedMatching DOID:3196 cellular schwannoma oboInOwl:hasDbXref NCI:C4724 semapv:UnspecifiedMatching DOID:3196 cellular schwannoma oboInOwl:hasDbXref UMLS_CUI:C0431124 semapv:UnspecifiedMatching DOID:3197 schwannoma of twelfth cranial nerve oboInOwl:hasDbXref NCI:C5434 semapv:UnspecifiedMatching DOID:3197 schwannoma of twelfth cranial nerve oboInOwl:hasDbXref UMLS_CUI:C1335928 semapv:UnspecifiedMatching -DOID:3198 hypoglossal nerve neoplasm oboInOwl:hasDbXref NCI:C5830 semapv:UnspecifiedMatching DOID:3198 hypoglossal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263903 semapv:UnspecifiedMatching +DOID:3198 hypoglossal nerve neoplasm oboInOwl:hasDbXref NCI:C5830 semapv:UnspecifiedMatching DOID:3199 C-P angle neurinoma oboInOwl:hasDbXref NCI:C5413 semapv:UnspecifiedMatching DOID:3199 C-P angle neurinoma oboInOwl:hasDbXref UMLS_CUI:C1332905 semapv:UnspecifiedMatching DOID:320 vascular myelopathy oboInOwl:hasDbXref ICD10CM:G95.1 semapv:UnspecifiedMatching @@ -22336,42 +22360,42 @@ DOID:3201 sympathetic neurilemmoma oboInOwl:hasDbXref NCI:C5421 semapv:Unspecifi DOID:3201 sympathetic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1336543 semapv:UnspecifiedMatching DOID:3202 neurilemmoma of the fifth cranial nerve oboInOwl:hasDbXref NCI:C4655 semapv:UnspecifiedMatching DOID:3202 neurilemmoma of the fifth cranial nerve oboInOwl:hasDbXref UMLS_CUI:C0349582 semapv:UnspecifiedMatching -DOID:3203 macrocystic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C4054526 semapv:UnspecifiedMatching DOID:3203 macrocystic neurilemmoma oboInOwl:hasDbXref NCI:C5321 semapv:UnspecifiedMatching -DOID:3204 neurilemmomatosis oboInOwl:hasDbXref ICD10CM:Q85.03 semapv:UnspecifiedMatching +DOID:3203 macrocystic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C4054526 semapv:UnspecifiedMatching +DOID:3204 neurilemmomatosis oboInOwl:hasDbXref UMLS_CUI:C1335929 semapv:UnspecifiedMatching +DOID:3204 neurilemmomatosis oboInOwl:hasDbXref OMIM:615670 semapv:UnspecifiedMatching +DOID:3204 neurilemmomatosis oboInOwl:hasDbXref OMIM:162091 semapv:UnspecifiedMatching DOID:3204 neurilemmomatosis oboInOwl:hasDbXref ICD9CM:237.73 semapv:UnspecifiedMatching DOID:3204 neurilemmomatosis oboInOwl:hasDbXref MESH:C536641 semapv:UnspecifiedMatching +DOID:3204 neurilemmomatosis oboInOwl:hasDbXref ICD10CM:Q85.03 semapv:UnspecifiedMatching DOID:3204 neurilemmomatosis oboInOwl:hasDbXref NCI:C6557 semapv:UnspecifiedMatching -DOID:3204 neurilemmomatosis oboInOwl:hasDbXref OMIM:162091 semapv:UnspecifiedMatching -DOID:3204 neurilemmomatosis oboInOwl:hasDbXref OMIM:615670 semapv:UnspecifiedMatching -DOID:3204 neurilemmomatosis oboInOwl:hasDbXref UMLS_CUI:C1335929 semapv:UnspecifiedMatching DOID:3205 melanotic neurilemmoma oboInOwl:hasDbXref NCI:C6970 semapv:UnspecifiedMatching DOID:3205 melanotic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1306247 semapv:UnspecifiedMatching DOID:3206 plexiform schwannoma oboInOwl:hasDbXref NCI:C6969 semapv:UnspecifiedMatching DOID:3206 plexiform schwannoma oboInOwl:hasDbXref UMLS_CUI:C1370659 semapv:UnspecifiedMatching -DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref NCI:C90598 semapv:UnspecifiedMatching -DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS_CUI:C0079301 semapv:UnspecifiedMatching DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref GARD:2152 semapv:UnspecifiedMatching DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref MESH:D016109 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref ICD10CM:G04.1 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref MESH:D015493 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref NCI:C179058 semapv:UnspecifiedMatching -DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching +DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref NCI:C90598 semapv:UnspecifiedMatching +DOID:3209 junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS_CUI:C0079301 semapv:UnspecifiedMatching DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref UMLS_CUI:C0030481 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS_CUI:C0205711 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ORDO:702 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching -DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching +DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref OMIM:159580 semapv:UnspecifiedMatching +DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref NCI:C179058 semapv:UnspecifiedMatching +DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref MESH:D015493 semapv:UnspecifiedMatching +DOID:321 tropical spastic paraparesis oboInOwl:hasDbXref ICD10CM:G04.1 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref GARD:4265 semapv:UnspecifiedMatching +DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref MESH:D020371 semapv:UnspecifiedMatching DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref NCI:C75487 semapv:UnspecifiedMatching -DOID:3211 lysosomal storage disease oboInOwl:hasDbXref UMLS_CUI:C0085078 semapv:UnspecifiedMatching +DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref ORDO:702 semapv:UnspecifiedMatching +DOID:3210 Pelizaeus-Merzbacher disease oboInOwl:hasDbXref UMLS_CUI:C0205711 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref MESH:D016464 semapv:UnspecifiedMatching DOID:3211 lysosomal storage disease oboInOwl:hasDbXref NCI:C61250 semapv:UnspecifiedMatching -DOID:3213 demyelinating disease oboInOwl:hasDbXref UMLS_CUI:C0011303 semapv:UnspecifiedMatching -DOID:3213 demyelinating disease oboInOwl:hasDbXref NCI:C34527 semapv:UnspecifiedMatching +DOID:3211 lysosomal storage disease oboInOwl:hasDbXref UMLS_CUI:C0085078 semapv:UnspecifiedMatching DOID:3213 demyelinating disease oboInOwl:hasDbXref MESH:D003711 semapv:UnspecifiedMatching -DOID:3216 jejunal somatostatinoma oboInOwl:hasDbXref NCI:C5787 semapv:UnspecifiedMatching +DOID:3213 demyelinating disease oboInOwl:hasDbXref NCI:C34527 semapv:UnspecifiedMatching +DOID:3213 demyelinating disease oboInOwl:hasDbXref UMLS_CUI:C0011303 semapv:UnspecifiedMatching DOID:3216 jejunal somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C1334297 semapv:UnspecifiedMatching +DOID:3216 jejunal somatostatinoma oboInOwl:hasDbXref NCI:C5787 semapv:UnspecifiedMatching DOID:3218 jejunal neoplasm oboInOwl:hasDbXref MESH:D007580 semapv:UnspecifiedMatching DOID:3218 jejunal neoplasm oboInOwl:hasDbXref NCI:C8401 semapv:UnspecifiedMatching DOID:3218 jejunal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0022374 semapv:UnspecifiedMatching @@ -22382,27 +22406,27 @@ DOID:322 myelitis oboInOwl:hasDbXref UMLS_CUI:C0026975 semapv:UnspecifiedMatchin DOID:3222 causalgia oboInOwl:hasDbXref MESH:D002422 semapv:UnspecifiedMatching DOID:3222 causalgia oboInOwl:hasDbXref NCI:C121572 semapv:UnspecifiedMatching DOID:3222 causalgia oboInOwl:hasDbXref UMLS_CUI:C0007462 semapv:UnspecifiedMatching +DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref GARD:4647 semapv:UnspecifiedMatching DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref MESH:D020918 semapv:UnspecifiedMatching DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref UMLS_CUI:C0458219 semapv:UnspecifiedMatching -DOID:3223 complex regional pain syndrome oboInOwl:hasDbXref GARD:4647 semapv:UnspecifiedMatching -DOID:3225 tracheal disease oboInOwl:hasDbXref ICD10CM:S12.8 semapv:UnspecifiedMatching -DOID:3225 tracheal disease oboInOwl:hasDbXref MESH:D014133 semapv:UnspecifiedMatching -DOID:3225 tracheal disease oboInOwl:hasDbXref NCI:C35079 semapv:UnspecifiedMatching DOID:3225 tracheal disease oboInOwl:hasDbXref UMLS_CUI:C0040580 semapv:UnspecifiedMatching -DOID:3227 tracheal stenosis skos:exactMatch MESH:D014135 semapv:UnspecifiedMatching +DOID:3225 tracheal disease oboInOwl:hasDbXref NCI:C35079 semapv:UnspecifiedMatching +DOID:3225 tracheal disease oboInOwl:hasDbXref MESH:D014133 semapv:UnspecifiedMatching +DOID:3225 tracheal disease oboInOwl:hasDbXref ICD10CM:S12.8 semapv:UnspecifiedMatching DOID:3227 tracheal stenosis oboInOwl:hasDbXref MESH:D014135 semapv:UnspecifiedMatching DOID:3227 tracheal stenosis oboInOwl:hasDbXref NCI:C78646 semapv:UnspecifiedMatching DOID:3227 tracheal stenosis oboInOwl:hasDbXref UMLS_CUI:C0040583 semapv:UnspecifiedMatching +DOID:3227 tracheal stenosis skos:exactMatch MESH:D014135 semapv:UnspecifiedMatching DOID:3229 gastric dilatation oboInOwl:hasDbXref MESH:D013271 semapv:UnspecifiedMatching DOID:3229 gastric dilatation oboInOwl:hasDbXref UMLS_CUI:C0038353 semapv:UnspecifiedMatching DOID:3230 high pressure neurological syndrome oboInOwl:hasDbXref MESH:D006610 semapv:UnspecifiedMatching DOID:3230 high pressure neurological syndrome oboInOwl:hasDbXref UMLS_CUI:C0019537 semapv:UnspecifiedMatching +DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref ICD9CM:200.5 semapv:UnspecifiedMatching DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref NCI:C9301 semapv:UnspecifiedMatching DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref UMLS_CUI:C0280803 semapv:UnspecifiedMatching -DOID:3234 central nervous system lymphoma oboInOwl:hasDbXref ICD9CM:200.5 semapv:UnspecifiedMatching +DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref MESH:D011015 semapv:UnspecifiedMatching DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0032290 semapv:UnspecifiedMatching DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref ICD10CM:J69.0 semapv:UnspecifiedMatching -DOID:3240 aspiration pneumonitis oboInOwl:hasDbXref MESH:D011015 semapv:UnspecifiedMatching DOID:3241 lipid pneumonia oboInOwl:hasDbXref ICD10CM:J69.1 semapv:UnspecifiedMatching DOID:3241 lipid pneumonia oboInOwl:hasDbXref MESH:D011017 semapv:UnspecifiedMatching DOID:3241 lipid pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032298 semapv:UnspecifiedMatching @@ -22413,13 +22437,13 @@ DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C8971 semapv:Unspeci DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268210 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref ORDO:99757 semapv:UnspecifiedMatching DOID:3246 embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206656 semapv:UnspecifiedMatching +DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0035412 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8900/3 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3359 semapv:UnspecifiedMatching -DOID:3247 rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0035412 semapv:UnspecifiedMatching DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334480 semapv:UnspecifiedMatching -DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8901/3 semapv:UnspecifiedMatching DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C4258 semapv:UnspecifiedMatching +DOID:3250 pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8901/3 semapv:UnspecifiedMatching DOID:3251 prostate embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5525 semapv:UnspecifiedMatching DOID:3251 prostate embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335508 semapv:UnspecifiedMatching DOID:3252 prostate rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5522 semapv:UnspecifiedMatching @@ -22428,45 +22452,46 @@ DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma oboInOwl:hasDbXref N DOID:3253 embryonal extrahepatic bile duct rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333505 semapv:UnspecifiedMatching DOID:3254 bile duct rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5860 semapv:UnspecifiedMatching DOID:3254 bile duct rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C2064434 semapv:UnspecifiedMatching -DOID:3255 botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C9150 semapv:UnspecifiedMatching DOID:3255 botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1306573 semapv:UnspecifiedMatching +DOID:3255 botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C9150 semapv:UnspecifiedMatching DOID:3258 orbit embryonal rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335127 semapv:UnspecifiedMatching DOID:3258 orbit embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6246 semapv:UnspecifiedMatching -DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346347 semapv:UnspecifiedMatching DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref MESH:C537605 semapv:UnspecifiedMatching DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref NCI:C4543 semapv:UnspecifiedMatching +DOID:3259 orbit rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346347 semapv:UnspecifiedMatching DOID:326 ischemia oboInOwl:hasDbXref MESH:D007511 semapv:UnspecifiedMatching DOID:326 ischemia oboInOwl:hasDbXref NCI:C34738 semapv:UnspecifiedMatching DOID:326 ischemia oboInOwl:hasDbXref UMLS_CUI:C0022116 semapv:UnspecifiedMatching -DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8912/3 semapv:UnspecifiedMatching DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6519 semapv:UnspecifiedMatching +DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8912/3 semapv:UnspecifiedMatching DOID:3260 spindle cell rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266134 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref ORDO:2314 semapv:UnspecifiedMatching -DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C2936739 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C1968689 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref OMIM:147060 semapv:UnspecifiedMatching -DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126343 semapv:UnspecifiedMatching +DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref UMLS_CUI:C2936739 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126342 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref MESH:D007589 semapv:UnspecifiedMatching DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref GARD:6800 semapv:UnspecifiedMatching -DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref MESH:D010585 semapv:UnspecifiedMatching -DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref UMLS_CUI:C0031306 semapv:UnspecifiedMatching +DOID:3261 hyper IgE recurrent infection syndrome 1 oboInOwl:hasDbXref NCI:C126343 semapv:UnspecifiedMatching DOID:3262 phagocyte bactericidal dysfunction skos:exactMatch MESH:D010585 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref ORDO:2884 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref NCI:C85009 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref UMLS_CUI:C0080024 semapv:UnspecifiedMatching -DOID:3263 piebaldism oboInOwl:hasDbXref ICD10CM:E70.39 semapv:UnspecifiedMatching +DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref UMLS_CUI:C0031306 semapv:UnspecifiedMatching +DOID:3262 phagocyte bactericidal dysfunction oboInOwl:hasDbXref MESH:D010585 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref GARD:4344 semapv:UnspecifiedMatching +DOID:3263 piebaldism oboInOwl:hasDbXref ICD10CM:E70.39 semapv:UnspecifiedMatching DOID:3263 piebaldism oboInOwl:hasDbXref MESH:D016116 semapv:UnspecifiedMatching -DOID:3264 subacute leukemia oboInOwl:hasDbXref UMLS_CUI:C0153924 semapv:UnspecifiedMatching +DOID:3263 piebaldism oboInOwl:hasDbXref NCI:C85009 semapv:UnspecifiedMatching +DOID:3263 piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching +DOID:3263 piebaldism oboInOwl:hasDbXref ORDO:2884 semapv:UnspecifiedMatching +DOID:3263 piebaldism oboInOwl:hasDbXref UMLS_CUI:C0080024 semapv:UnspecifiedMatching DOID:3264 subacute leukemia oboInOwl:hasDbXref ICD9CM:208.2 semapv:UnspecifiedMatching -DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ORDO:379 semapv:UnspecifiedMatching +DOID:3264 subacute leukemia oboInOwl:hasDbXref UMLS_CUI:C0153924 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref UMLS_CUI:C0018203 semapv:UnspecifiedMatching +DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ORDO:379 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref NCI:C26788 semapv:UnspecifiedMatching -DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 semapv:UnspecifiedMatching -DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref GARD:6100 semapv:UnspecifiedMatching +DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref OMIMPS:306400 semapv:UnspecifiedMatching DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref ICD10CM:D71 semapv:UnspecifiedMatching +DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref GARD:6100 semapv:UnspecifiedMatching +DOID:3265 chronic granulomatous disease oboInOwl:hasDbXref MESH:D006105 semapv:UnspecifiedMatching DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref NCI:C4512 semapv:UnspecifiedMatching DOID:3267 mucinous ovarian cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0346172 semapv:UnspecifiedMatching DOID:3269 ovarian cystadenoma oboInOwl:hasDbXref NCI:C4060 semapv:UnspecifiedMatching @@ -22477,12 +22502,12 @@ DOID:327 syringomyelia oboInOwl:hasDbXref NCI:C85179 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref OMIM:186700 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref ORDO:3280 semapv:UnspecifiedMatching DOID:327 syringomyelia oboInOwl:hasDbXref UMLS_CUI:C0039144 semapv:UnspecifiedMatching -DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref NCI:C8365 semapv:UnspecifiedMatching DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref UMLS_CUI:C0334056 semapv:UnspecifiedMatching +DOID:3274 proliferative type fibrocystic change of breast oboInOwl:hasDbXref NCI:C8365 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref UMLS_CUI:C0040100 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref NCI:C3411 semapv:UnspecifiedMatching -DOID:3275 thymoma oboInOwl:hasDbXref MESH:D013945 semapv:UnspecifiedMatching DOID:3275 thymoma oboInOwl:hasDbXref ICDO:8580/3 semapv:UnspecifiedMatching +DOID:3275 thymoma oboInOwl:hasDbXref MESH:D013945 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref ICD10CM:C37 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref ICD9CM:164.0 semapv:UnspecifiedMatching DOID:3277 thymus cancer oboInOwl:hasDbXref MESH:D013953 semapv:UnspecifiedMatching @@ -22509,13 +22534,13 @@ DOID:3292 mpox oboInOwl:hasDbXref ICD9CM:059.01 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref MESH:D045908 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref NCI:C128421 semapv:UnspecifiedMatching DOID:3292 mpox oboInOwl:hasDbXref UMLS_CUI:C0276180 semapv:UnspecifiedMatching -DOID:3298 vaccinia oboInOwl:hasDbXref UMLS_CUI:C0042214 semapv:UnspecifiedMatching DOID:3298 vaccinia oboInOwl:hasDbXref MESH:D014615 semapv:UnspecifiedMatching -DOID:3301 gonadoblastoma oboInOwl:hasDbXref ICDO:9073/1 semapv:UnspecifiedMatching +DOID:3298 vaccinia oboInOwl:hasDbXref UMLS_CUI:C0042214 semapv:UnspecifiedMatching +DOID:3301 gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C0206661 semapv:UnspecifiedMatching +DOID:3301 gonadoblastoma oboInOwl:hasDbXref OMIM:424500 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref MESH:D018238 semapv:UnspecifiedMatching DOID:3301 gonadoblastoma oboInOwl:hasDbXref NCI:C3754 semapv:UnspecifiedMatching -DOID:3301 gonadoblastoma oboInOwl:hasDbXref OMIM:424500 semapv:UnspecifiedMatching -DOID:3301 gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C0206661 semapv:UnspecifiedMatching +DOID:3301 gonadoblastoma oboInOwl:hasDbXref ICDO:9073/1 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref GARD:1303 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref ICDO:9370/3 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref MESH:D002817 semapv:UnspecifiedMatching @@ -22523,118 +22548,118 @@ DOID:3302 chordoma oboInOwl:hasDbXref NCI:C2947 semapv:UnspecifiedMatching DOID:3302 chordoma oboInOwl:hasDbXref UMLS_CUI:C0008487 semapv:UnspecifiedMatching DOID:3303 notochordal cancer oboInOwl:hasDbXref NCI:C7063 semapv:UnspecifiedMatching DOID:3303 notochordal cancer oboInOwl:hasDbXref UMLS_CUI:C1335069 semapv:UnspecifiedMatching -DOID:3304 germinoma oboInOwl:hasDbXref UMLS_CUI:C0206660 semapv:UnspecifiedMatching DOID:3304 germinoma oboInOwl:hasDbXref ICDO:9064/3 semapv:UnspecifiedMatching DOID:3304 germinoma oboInOwl:hasDbXref MESH:D018237 semapv:UnspecifiedMatching -DOID:3305 teratocarcinoma oboInOwl:hasDbXref ICDO:9081/3 semapv:UnspecifiedMatching -DOID:3305 teratocarcinoma oboInOwl:hasDbXref MESH:D018243 semapv:UnspecifiedMatching +DOID:3304 germinoma oboInOwl:hasDbXref UMLS_CUI:C0206660 semapv:UnspecifiedMatching DOID:3305 teratocarcinoma oboInOwl:hasDbXref NCI:C3756 semapv:UnspecifiedMatching DOID:3305 teratocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206664 semapv:UnspecifiedMatching +DOID:3305 teratocarcinoma oboInOwl:hasDbXref ICDO:9081/3 semapv:UnspecifiedMatching +DOID:3305 teratocarcinoma oboInOwl:hasDbXref MESH:D018243 semapv:UnspecifiedMatching DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref ICDO:9085/3 semapv:UnspecifiedMatching DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref NCI:C4290 semapv:UnspecifiedMatching DOID:3306 mixed germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0334524 semapv:UnspecifiedMatching -DOID:3307 teratoma oboInOwl:hasDbXref ICDO:9080/3 semapv:UnspecifiedMatching -DOID:3307 teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching DOID:3307 teratoma oboInOwl:hasDbXref NCI:C3403 semapv:UnspecifiedMatching DOID:3307 teratoma oboInOwl:hasDbXref UMLS_CUI:C0039538 semapv:UnspecifiedMatching +DOID:3307 teratoma oboInOwl:hasDbXref ICDO:9080/3 semapv:UnspecifiedMatching +DOID:3307 teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0855159 semapv:UnspecifiedMatching -DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206659 semapv:UnspecifiedMatching -DOID:3308 embryonal carcinoma oboInOwl:hasDbXref NCI:C8880 semapv:UnspecifiedMatching -DOID:3308 embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 semapv:UnspecifiedMatching -DOID:3308 embryonal carcinoma oboInOwl:hasDbXref ICDO:9070/3 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref GARD:5140 semapv:UnspecifiedMatching +DOID:3308 embryonal carcinoma oboInOwl:hasDbXref ICDO:9070/3 semapv:UnspecifiedMatching +DOID:3308 embryonal carcinoma oboInOwl:hasDbXref MESH:D018236 semapv:UnspecifiedMatching DOID:3308 embryonal carcinoma oboInOwl:hasDbXref NCI:C3752 semapv:UnspecifiedMatching +DOID:3308 embryonal carcinoma oboInOwl:hasDbXref NCI:C8880 semapv:UnspecifiedMatching +DOID:3308 embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206659 semapv:UnspecifiedMatching +DOID:3309 neurodermatitis oboInOwl:hasDbXref UMLS_CUI:C0027822 semapv:UnspecifiedMatching DOID:3309 neurodermatitis oboInOwl:hasDbXref MESH:D009450 semapv:UnspecifiedMatching DOID:3309 neurodermatitis oboInOwl:hasDbXref NCI:C111963 semapv:UnspecifiedMatching -DOID:3309 neurodermatitis oboInOwl:hasDbXref UMLS_CUI:C0027822 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref ICD10CM:G96.9 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref MESH:D002493 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref NCI:C2934 semapv:UnspecifiedMatching DOID:331 central nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0007682 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIMPS:603165 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011615 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref MESH:D003876 semapv:UnspecifiedMatching +DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIM:603165 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref EFO:0000274 semapv:UnspecifiedMatching DOID:3310 atopic dermatitis oboInOwl:hasDbXref ICD10CM:L20 semapv:UnspecifiedMatching -DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIM:603165 semapv:UnspecifiedMatching +DOID:3310 atopic dermatitis oboInOwl:hasDbXref MESH:D003876 semapv:UnspecifiedMatching +DOID:3310 atopic dermatitis oboInOwl:hasDbXref OMIMPS:603165 semapv:UnspecifiedMatching +DOID:3310 atopic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0011615 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34805 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0005586 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0236780 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0024713 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0005587 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0005586 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34424 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref UMLS_CUI:C0005587 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34423 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref NCI:C34805 semapv:UnspecifiedMatching +DOID:3312 bipolar disorder oboInOwl:hasDbXref GARD:10249 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref ICD9CM:296.80 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref ICD9CM:296.60 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref ICD9CM:296.40 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref ICD10CM:F31 semapv:UnspecifiedMatching -DOID:3312 bipolar disorder oboInOwl:hasDbXref GARD:10249 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref EFO:0000289 semapv:UnspecifiedMatching DOID:3312 bipolar disorder oboInOwl:hasDbXref MESH:D001714 semapv:UnspecifiedMatching -DOID:3314 angiomyolipoma oboInOwl:hasDbXref ICDO:8860/0 semapv:UnspecifiedMatching -DOID:3314 angiomyolipoma oboInOwl:hasDbXref MESH:D018207 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma oboInOwl:hasDbXref NCI:C3734 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C0206633 semapv:UnspecifiedMatching +DOID:3314 angiomyolipoma oboInOwl:hasDbXref ICDO:8860/0 semapv:UnspecifiedMatching +DOID:3314 angiomyolipoma oboInOwl:hasDbXref MESH:D018207 semapv:UnspecifiedMatching DOID:3314 angiomyolipoma skos:exactMatch MESH:D018207 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref NCI:C4502 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref OMIM:151900 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref NCI:C4248 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0206631 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0023798 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref NCI:C3192 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref NCI:C4248 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0346118 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref NCI:C3192 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref UMLS_CUI:C0023798 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref MESH:D008067 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref ICDO:8850/0 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref ICD9CM:214 semapv:UnspecifiedMatching -DOID:3315 lipoma oboInOwl:hasDbXref ICD10CM:D17.9 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref ICD10CM:D17 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref ICD10CM:D17.9 semapv:UnspecifiedMatching DOID:3315 lipoma oboInOwl:hasDbXref MESH:D018205 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref ICD9CM:214 semapv:UnspecifiedMatching +DOID:3315 lipoma oboInOwl:hasDbXref ICDO:8850/0 semapv:UnspecifiedMatching +DOID:3316 perivascular tumor oboInOwl:hasDbXref NCI:C6528 semapv:UnspecifiedMatching DOID:3316 perivascular tumor oboInOwl:hasDbXref NCI:C6530 semapv:UnspecifiedMatching DOID:3316 perivascular tumor oboInOwl:hasDbXref UMLS_CUI:C1334611 semapv:UnspecifiedMatching -DOID:3316 perivascular tumor oboInOwl:hasDbXref NCI:C6528 semapv:UnspecifiedMatching DOID:3316 perivascular tumor oboInOwl:hasDbXref UMLS_CUI:C1335392 semapv:UnspecifiedMatching DOID:3317 hepatic angiomyolipoma oboInOwl:hasDbXref NCI:C27485 semapv:UnspecifiedMatching DOID:3317 hepatic angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C1333962 semapv:UnspecifiedMatching DOID:3318 epithelioid type angiomyolipoma oboInOwl:hasDbXref NCI:C38151 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref GARD:3319 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ICDO:9174/1 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref NCI:C38153 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching +DOID:3319 lymphangioleiomyomatosis skos:exactMatch MESH:D018192 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ORDO:538 semapv:UnspecifiedMatching +DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref OMIM:606690 semapv:UnspecifiedMatching DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0349649 semapv:UnspecifiedMatching -DOID:3319 lymphangioleiomyomatosis skos:exactMatch MESH:D018192 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis skos:exactMatch MESH:D000690 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS_CUI:C0002736 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ORDO:803 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref NCI:C34373 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIMPS:105400 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD9CM:335.20 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10CM:G12.21 semapv:UnspecifiedMatching -DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref GARD:5786 semapv:UnspecifiedMatching +DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref ICDO:9174/1 semapv:UnspecifiedMatching +DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref GARD:3319 semapv:UnspecifiedMatching +DOID:3319 lymphangioleiomyomatosis oboInOwl:hasDbXref NCI:C38153 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref EFO:0000253 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref GARD:5786 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD10CM:G12.21 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ICD9CM:335.20 semapv:UnspecifiedMatching DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref KEGG:05014 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref GARD:7737 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref MESH:D000690 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref NCI:C34373 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref OMIMPS:105400 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref ORDO:803 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis oboInOwl:hasDbXref UMLS_CUI:C0002736 semapv:UnspecifiedMatching +DOID:332 amyotrophic lateral sclerosis skos:exactMatch MESH:D000690 semapv:UnspecifiedMatching +DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref UMLS_CUI:C0039373 semapv:UnspecifiedMatching +DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching +DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref NCI:C85184 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref ICD10CM:E75.02 semapv:UnspecifiedMatching +DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref GARD:7737 semapv:UnspecifiedMatching DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref MESH:D013661 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref NCI:C85184 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref OMIM:272800 semapv:UnspecifiedMatching -DOID:3320 Tay-Sachs disease oboInOwl:hasDbXref UMLS_CUI:C0039373 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.0 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref MESH:D020143 semapv:UnspecifiedMatching DOID:3321 GM2 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0268274 semapv:UnspecifiedMatching -DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref NCI:C84739 semapv:UnspecifiedMatching -DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 semapv:UnspecifiedMatching -DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0085131 semapv:UnspecifiedMatching DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref GARD:10891 semapv:UnspecifiedMatching DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref ICD10CM:E75.19 semapv:UnspecifiedMatching -DOID:3323 Sandhoff disease oboInOwl:hasDbXref UMLS_CUI:C0036161 semapv:UnspecifiedMatching +DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref MESH:D016537 semapv:UnspecifiedMatching +DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref NCI:C84739 semapv:UnspecifiedMatching +DOID:3322 GM1 gangliosidosis oboInOwl:hasDbXref UMLS_CUI:C0085131 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref OMIM:268800 semapv:UnspecifiedMatching -DOID:3323 Sandhoff disease oboInOwl:hasDbXref NCI:C85052 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease skos:exactMatch MESH:D012497 semapv:UnspecifiedMatching +DOID:3323 Sandhoff disease oboInOwl:hasDbXref UMLS_CUI:C0036161 semapv:UnspecifiedMatching +DOID:3323 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref ICD10CM:E75.01 semapv:UnspecifiedMatching DOID:3323 Sandhoff disease oboInOwl:hasDbXref GARD:7604 semapv:UnspecifiedMatching -DOID:3323 Sandhoff disease oboInOwl:hasDbXref MESH:D012497 semapv:UnspecifiedMatching +DOID:3323 Sandhoff disease oboInOwl:hasDbXref NCI:C85052 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref EFO:0004247 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref ICD10CM:F39 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref MESH:D019964 semapv:UnspecifiedMatching @@ -22642,27 +22667,27 @@ DOID:3324 mood disorder oboInOwl:hasDbXref NCI:C92200 semapv:UnspecifiedMatching DOID:3324 mood disorder oboInOwl:hasDbXref UMLS_CUI:C0525045 semapv:UnspecifiedMatching DOID:3325 hyperglobulinemic purpura oboInOwl:hasDbXref MESH:D011694 semapv:UnspecifiedMatching DOID:3325 hyperglobulinemic purpura oboInOwl:hasDbXref UMLS_CUI:C0034151 semapv:UnspecifiedMatching -DOID:3326 purpura skos:exactMatch MESH:D011693 semapv:UnspecifiedMatching DOID:3326 purpura oboInOwl:hasDbXref UMLS_CUI:C0034150 semapv:UnspecifiedMatching +DOID:3326 purpura oboInOwl:hasDbXref NCI:C78787 semapv:UnspecifiedMatching +DOID:3326 purpura skos:exactMatch MESH:D011693 semapv:UnspecifiedMatching DOID:3326 purpura oboInOwl:hasDbXref ICD10CM:D69.2 semapv:UnspecifiedMatching DOID:3326 purpura oboInOwl:hasDbXref MESH:D011693 semapv:UnspecifiedMatching -DOID:3326 purpura oboInOwl:hasDbXref NCI:C78787 semapv:UnspecifiedMatching -DOID:3327 partial motor epilepsy oboInOwl:hasDbXref MESH:D020938 semapv:UnspecifiedMatching -DOID:3327 partial motor epilepsy oboInOwl:hasDbXref NCI:C50847 semapv:UnspecifiedMatching DOID:3327 partial motor epilepsy oboInOwl:hasDbXref UMLS_CUI:C0016399 semapv:UnspecifiedMatching +DOID:3327 partial motor epilepsy oboInOwl:hasDbXref NCI:C50847 semapv:UnspecifiedMatching +DOID:3327 partial motor epilepsy oboInOwl:hasDbXref MESH:D020938 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref MESH:D004833 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref NCI:C177244 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref OMIMPS:600512 semapv:UnspecifiedMatching DOID:3328 temporal lobe epilepsy oboInOwl:hasDbXref UMLS_CUI:C0014556 semapv:UnspecifiedMatching -DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref UMLS_CUI:C0376532 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref GARD:10287 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref MESH:D019305 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref OMIM:117100 semapv:UnspecifiedMatching DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref ORDO:1945 semapv:UnspecifiedMatching -DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref UMLS_CUI:C0752322 semapv:UnspecifiedMatching +DOID:3329 benign epilepsy with centrotemporal spikes oboInOwl:hasDbXref UMLS_CUI:C0376532 semapv:UnspecifiedMatching DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref MESH:D020937 semapv:UnspecifiedMatching -DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref MESH:D017034 semapv:UnspecifiedMatching +DOID:3330 partial sensory epilepsy oboInOwl:hasDbXref UMLS_CUI:C0752322 semapv:UnspecifiedMatching DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref UMLS_CUI:C0085541 semapv:UnspecifiedMatching +DOID:3331 frontal lobe epilepsy oboInOwl:hasDbXref MESH:D017034 semapv:UnspecifiedMatching DOID:3332 haemonchiasis oboInOwl:hasDbXref MESH:D006188 semapv:UnspecifiedMatching DOID:3332 haemonchiasis oboInOwl:hasDbXref UMLS_CUI:C0018477 semapv:UnspecifiedMatching DOID:334 histrionic personality disorder oboInOwl:hasDbXref ICD10CM:F60.4 semapv:UnspecifiedMatching @@ -22675,11 +22700,11 @@ DOID:3341 osteitis fibrosa oboInOwl:hasDbXref NCI:C34875 semapv:UnspecifiedMatch DOID:3341 osteitis fibrosa oboInOwl:hasDbXref UMLS_CUI:C0029405 semapv:UnspecifiedMatching DOID:3342 bone inflammation disease oboInOwl:hasDbXref MESH:D010000 semapv:UnspecifiedMatching DOID:3342 bone inflammation disease oboInOwl:hasDbXref UMLS_CUI:C0029400 semapv:UnspecifiedMatching -DOID:3343 glycoproteinosis oboInOwl:hasDbXref UMLS_CUI:C0026697 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref OMIM:256550 semapv:UnspecifiedMatching -DOID:3343 glycoproteinosis oboInOwl:hasDbXref MESH:D009081 semapv:UnspecifiedMatching -DOID:3343 glycoproteinosis oboInOwl:hasDbXref GARD:10670 semapv:UnspecifiedMatching DOID:3343 glycoproteinosis oboInOwl:hasDbXref NCI:C61267 semapv:UnspecifiedMatching +DOID:3343 glycoproteinosis oboInOwl:hasDbXref UMLS_CUI:C0026697 semapv:UnspecifiedMatching +DOID:3343 glycoproteinosis oboInOwl:hasDbXref GARD:10670 semapv:UnspecifiedMatching +DOID:3343 glycoproteinosis oboInOwl:hasDbXref MESH:D009081 semapv:UnspecifiedMatching DOID:3345 xanthomatosis oboInOwl:hasDbXref MESH:D014973 semapv:UnspecifiedMatching DOID:3345 xanthomatosis oboInOwl:hasDbXref UMLS_CUI:C0043325 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref GARD:7284 semapv:UnspecifiedMatching @@ -22691,8 +22716,8 @@ DOID:3347 osteosarcoma oboInOwl:hasDbXref OMIM:259500 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref ORDO:668 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0029463 semapv:UnspecifiedMatching DOID:3347 osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206639 semapv:UnspecifiedMatching -DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334699 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332517 semapv:UnspecifiedMatching +DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334699 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref NCI:C6587 semapv:UnspecifiedMatching DOID:3350 mesenchymal cell neoplasm oboInOwl:hasDbXref NCI:C7059 semapv:UnspecifiedMatching DOID:3351 bone angioendothelial sarcoma oboInOwl:hasDbXref NCI:C6479 semapv:UnspecifiedMatching @@ -22701,46 +22726,45 @@ DOID:3352 malignant fibrous histiocytoma of bone oboInOwl:hasDbXref NCI:C8563 se DOID:3352 malignant fibrous histiocytoma of bone oboInOwl:hasDbXref UMLS_CUI:C0740479 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336021 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206643 semapv:UnspecifiedMatching +DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0016057 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref NCI:C7075 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref NCI:C6605 semapv:UnspecifiedMatching -DOID:3355 fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0016057 semapv:UnspecifiedMatching -DOID:3355 fibrosarcoma oboInOwl:hasDbXref MESH:D018218 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref MESH:D005354 semapv:UnspecifiedMatching +DOID:3355 fibrosarcoma oboInOwl:hasDbXref MESH:D018218 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref ICDO:8810/3 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref GARD:2327 semapv:UnspecifiedMatching DOID:3355 fibrosarcoma oboInOwl:hasDbXref NCI:C3043 semapv:UnspecifiedMatching DOID:3356 localized osteosarcoma oboInOwl:hasDbXref NCI:C7780 semapv:UnspecifiedMatching DOID:3356 localized osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278511 semapv:UnspecifiedMatching -DOID:3357 extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C8810 semapv:UnspecifiedMatching DOID:3357 extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0855052 semapv:UnspecifiedMatching +DOID:3357 extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C8810 semapv:UnspecifiedMatching DOID:3360 multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6470 semapv:UnspecifiedMatching DOID:3360 multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334820 semapv:UnspecifiedMatching DOID:3361 childhood osteosarcoma oboInOwl:hasDbXref NCI:C6585 semapv:UnspecifiedMatching DOID:3361 childhood osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332986 semapv:UnspecifiedMatching -DOID:3362 coronary aneurysm oboInOwl:hasDbXref MESH:D003323 semapv:UnspecifiedMatching -DOID:3362 coronary aneurysm oboInOwl:hasDbXref ICD9CM:414.11 semapv:UnspecifiedMatching -DOID:3362 coronary aneurysm oboInOwl:hasDbXref NCI:C168176 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref GARD:6200 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref ICD10CM:I25.41 semapv:UnspecifiedMatching +DOID:3362 coronary aneurysm oboInOwl:hasDbXref ICD9CM:414.11 semapv:UnspecifiedMatching +DOID:3362 coronary aneurysm oboInOwl:hasDbXref MESH:D003323 semapv:UnspecifiedMatching +DOID:3362 coronary aneurysm oboInOwl:hasDbXref NCI:C168176 semapv:UnspecifiedMatching DOID:3362 coronary aneurysm oboInOwl:hasDbXref UMLS_CUI:C0010051 semapv:UnspecifiedMatching -DOID:3367 bone leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332579 semapv:UnspecifiedMatching DOID:3367 bone leiomyosarcoma oboInOwl:hasDbXref NCI:C7154 semapv:UnspecifiedMatching +DOID:3367 bone leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332579 semapv:UnspecifiedMatching +DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1334406 semapv:UnspecifiedMatching +DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1333481 semapv:UnspecifiedMatching +DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C0585474 semapv:UnspecifiedMatching DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref NCI:C35871 semapv:UnspecifiedMatching DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref NCI:C4835 semapv:UnspecifiedMatching DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref NCI:C6623 semapv:UnspecifiedMatching -DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C0585474 semapv:UnspecifiedMatching -DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1333481 semapv:UnspecifiedMatching -DOID:3368 Ewing sarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1334406 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C9341 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334408 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0877849 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0863029 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0796547 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0684337 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0553580 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref OMIM:612219 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C9341 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7806 semapv:UnspecifiedMatching -DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7542 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C0553580 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C4817 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C27903 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C27901 semapv:UnspecifiedMatching @@ -22749,41 +22773,42 @@ DOID:3369 Ewing sarcoma oboInOwl:hasDbXref MESH:D012512 semapv:UnspecifiedMatchi DOID:3369 Ewing sarcoma oboInOwl:hasDbXref MESH:C563168 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref ICDO:9364/3 semapv:UnspecifiedMatching DOID:3369 Ewing sarcoma oboInOwl:hasDbXref GARD:6390 semapv:UnspecifiedMatching +DOID:3369 Ewing sarcoma oboInOwl:hasDbXref NCI:C7542 semapv:UnspecifiedMatching DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref NCI:C5829 semapv:UnspecifiedMatching DOID:337 spinal accessory nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263902 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335473 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0008479 semapv:UnspecifiedMatching -DOID:3371 chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref NCI:C7155 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref NCI:C2946 semapv:UnspecifiedMatching -DOID:3371 chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatching +DOID:3371 chondrosarcoma oboInOwl:hasDbXref OMIM:215300 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref ICDO:9220/3 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref GARD:6055 semapv:UnspecifiedMatching DOID:3371 chondrosarcoma oboInOwl:hasDbXref GARD:6004 semapv:UnspecifiedMatching +DOID:3371 chondrosarcoma oboInOwl:hasDbXref MESH:D002813 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref ICDO:9181/3 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref NCI:C4021 semapv:UnspecifiedMatching DOID:3372 chondroblastic osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279603 semapv:UnspecifiedMatching +DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206642 semapv:UnspecifiedMatching +DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref NCI:C8969 semapv:UnspecifiedMatching DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref ICDO:9192/3 semapv:UnspecifiedMatching DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref MESH:D018217 semapv:UnspecifiedMatching -DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref NCI:C8969 semapv:UnspecifiedMatching -DOID:3373 parosteal osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206642 semapv:UnspecifiedMatching DOID:3374 peripheral osteosarcoma oboInOwl:hasDbXref NCI:C7134 semapv:UnspecifiedMatching DOID:3374 peripheral osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332591 semapv:UnspecifiedMatching -DOID:3376 bone osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0585442 semapv:UnspecifiedMatching DOID:3376 bone osteosarcoma oboInOwl:hasDbXref NCI:C53707 semapv:UnspecifiedMatching +DOID:3376 bone osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0585442 semapv:UnspecifiedMatching DOID:3377 small cell osteogenic sarcoma oboInOwl:hasDbXref NCI:C4023 semapv:UnspecifiedMatching DOID:3377 small cell osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279622 semapv:UnspecifiedMatching -DOID:3379 metachronous osteosarcoma of the bone oboInOwl:hasDbXref NCI:C38157 semapv:UnspecifiedMatching DOID:3379 metachronous osteosarcoma of the bone oboInOwl:hasDbXref UMLS_CUI:C1334704 semapv:UnspecifiedMatching -DOID:3381 liposarcoma of bone oboInOwl:hasDbXref NCI:C7598 semapv:UnspecifiedMatching +DOID:3379 metachronous osteosarcoma of the bone oboInOwl:hasDbXref NCI:C38157 semapv:UnspecifiedMatching DOID:3381 liposarcoma of bone oboInOwl:hasDbXref UMLS_CUI:C1332581 semapv:UnspecifiedMatching +DOID:3381 liposarcoma of bone oboInOwl:hasDbXref NCI:C7598 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref GARD:6913 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref ICDO:8850/3 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref NCI:C3194 semapv:UnspecifiedMatching DOID:3382 liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0023827 semapv:UnspecifiedMatching -DOID:3385 bacterial vaginosis oboInOwl:hasDbXref NCI:C116973 semapv:UnspecifiedMatching DOID:3385 bacterial vaginosis oboInOwl:hasDbXref MESH:D016585 semapv:UnspecifiedMatching +DOID:3385 bacterial vaginosis oboInOwl:hasDbXref NCI:C116973 semapv:UnspecifiedMatching DOID:3385 bacterial vaginosis oboInOwl:hasDbXref UMLS_CUI:C0085166 semapv:UnspecifiedMatching DOID:3388 periodontal disease oboInOwl:hasDbXref UMLS_CUI:C0031090 semapv:UnspecifiedMatching DOID:3388 periodontal disease oboInOwl:hasDbXref NCI:C63743 semapv:UnspecifiedMatching @@ -22795,13 +22820,14 @@ DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref NCI:C84992 semapv:Unspecif DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref OMIM:245000 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref ORDO:678 semapv:UnspecifiedMatching DOID:3389 Papillon-Lefevre disease oboInOwl:hasDbXref UMLS_CUI:C0030360 semapv:UnspecifiedMatching +DOID:339 accessory nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152180 semapv:UnspecifiedMatching +DOID:339 accessory nerve disease oboInOwl:hasDbXref NCI:C26953 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref ICD9CM:352.4 semapv:UnspecifiedMatching DOID:339 accessory nerve disease oboInOwl:hasDbXref MESH:D020436 semapv:UnspecifiedMatching -DOID:339 accessory nerve disease oboInOwl:hasDbXref NCI:C26953 semapv:UnspecifiedMatching -DOID:339 accessory nerve disease oboInOwl:hasDbXref UMLS_CUI:C0152180 semapv:UnspecifiedMatching -DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref UMLS_CUI:C0022596 semapv:UnspecifiedMatching -DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref ICD10CM:L85.2 semapv:UnspecifiedMatching DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref GARD:8167 semapv:UnspecifiedMatching +DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref ICD10CM:L85.2 semapv:UnspecifiedMatching +DOID:3390 palmoplantar keratosis oboInOwl:hasDbXref UMLS_CUI:C0022596 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608316 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0264694 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0151744 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref UMLS_CUI:C0010068 semapv:UnspecifiedMatching @@ -22810,85 +22836,84 @@ DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:614293 semapv:Unspecif DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:612030 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:611139 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:610947 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608320 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608318 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608316 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:607339 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:300464 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:608320 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref NCI:C35505 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD9CM:410-414.99 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref NCI:C50625 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref EFO:0001645 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD10CM:I20-I25 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref OMIM:300464 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD10CM:I25 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD9CM:410-414.99 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD9CM:414.0 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD10CM:I25.10 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD9CM:414.0 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD10CM:I20-I25 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref MESH:D003324 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref MESH:D003327 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref MESH:D017202 semapv:UnspecifiedMatching +DOID:3393 coronary artery disease oboInOwl:hasDbXref NCI:C35505 semapv:UnspecifiedMatching DOID:3393 coronary artery disease oboInOwl:hasDbXref ICD9CM:414.9 semapv:UnspecifiedMatching -DOID:3393 coronary artery disease oboInOwl:hasDbXref NCI:C50625 semapv:UnspecifiedMatching -DOID:3401 inappropriate ADH syndrome skos:exactMatch MESH:D007177 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref ICD10CM:E22.2 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref MESH:D007177 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref NCI:C3988 semapv:UnspecifiedMatching DOID:3401 inappropriate ADH syndrome oboInOwl:hasDbXref UMLS_CUI:C0021141 semapv:UnspecifiedMatching +DOID:3401 inappropriate ADH syndrome skos:exactMatch MESH:D007177 semapv:UnspecifiedMatching DOID:3405 histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019618 semapv:UnspecifiedMatching DOID:3405 histiocytosis oboInOwl:hasDbXref MESH:D015614 semapv:UnspecifiedMatching DOID:3405 histiocytosis oboInOwl:hasDbXref NCI:C3106 semapv:UnspecifiedMatching -DOID:3407 carotid artery disease oboInOwl:hasDbXref MESH:D002340 semapv:UnspecifiedMatching DOID:3407 carotid artery disease oboInOwl:hasDbXref NCI:C84476 semapv:UnspecifiedMatching DOID:3407 carotid artery disease oboInOwl:hasDbXref UMLS_CUI:C0007273 semapv:UnspecifiedMatching -DOID:341 peripheral vascular disease oboInOwl:hasDbXref ICD9CM:443.81 semapv:UnspecifiedMatching -DOID:341 peripheral vascular disease oboInOwl:hasDbXref MESH:D001157 semapv:UnspecifiedMatching -DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS_CUI:C0003838 semapv:UnspecifiedMatching +DOID:3407 carotid artery disease oboInOwl:hasDbXref MESH:D002340 semapv:UnspecifiedMatching DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS_CUI:C0031115 semapv:UnspecifiedMatching +DOID:341 peripheral vascular disease oboInOwl:hasDbXref UMLS_CUI:C0003838 semapv:UnspecifiedMatching +DOID:341 peripheral vascular disease oboInOwl:hasDbXref MESH:D001157 semapv:UnspecifiedMatching +DOID:341 peripheral vascular disease oboInOwl:hasDbXref ICD9CM:443.81 semapv:UnspecifiedMatching DOID:3410 carotid artery thrombosis oboInOwl:hasDbXref MESH:D002341 semapv:UnspecifiedMatching DOID:3410 carotid artery thrombosis oboInOwl:hasDbXref UMLS_CUI:C0007274 semapv:UnspecifiedMatching -DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref UMLS_CUI:C0024748 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref GARD:6968 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref MESH:D008363 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref NCI:C84548 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref OMIM:248500 semapv:UnspecifiedMatching +DOID:3413 alpha-mannosidosis oboInOwl:hasDbXref UMLS_CUI:C0024748 semapv:UnspecifiedMatching DOID:3413 alpha-mannosidosis skos:exactMatch MESH:D008363 semapv:UnspecifiedMatching -DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263900 semapv:UnspecifiedMatching DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref NCI:C5828 semapv:UnspecifiedMatching -DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0154730 semapv:UnspecifiedMatching -DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref ICD9CM:352 semapv:UnspecifiedMatching +DOID:3417 glossopharyngeal nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263900 semapv:UnspecifiedMatching DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref ICD10CM:G52 semapv:UnspecifiedMatching +DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref ICD9CM:352 semapv:UnspecifiedMatching +DOID:3418 glossopharyngeal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0154730 semapv:UnspecifiedMatching +DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C0524802 semapv:UnspecifiedMatching DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref MESH:D019574 semapv:UnspecifiedMatching DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref NCI:C4801 semapv:UnspecifiedMatching -DOID:3419 optic nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C0524802 semapv:UnspecifiedMatching DOID:342 subclavian artery aneurysm oboInOwl:hasDbXref ICD9CM:442.82 semapv:UnspecifiedMatching DOID:342 subclavian artery aneurysm oboInOwl:hasDbXref UMLS_CUI:C0155746 semapv:UnspecifiedMatching DOID:3421 trochlear nerve neoplasm oboInOwl:hasDbXref NCI:C5825 semapv:UnspecifiedMatching DOID:3421 trochlear nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263896 semapv:UnspecifiedMatching -DOID:3426 vestibular disease oboInOwl:hasDbXref UMLS_CUI:C0042594 semapv:UnspecifiedMatching DOID:3426 vestibular disease oboInOwl:hasDbXref ICD10CM:H81.9 semapv:UnspecifiedMatching DOID:3426 vestibular disease oboInOwl:hasDbXref MESH:D015837 semapv:UnspecifiedMatching +DOID:3426 vestibular disease oboInOwl:hasDbXref UMLS_CUI:C0042594 semapv:UnspecifiedMatching DOID:3428 granulomatous myositis oboInOwl:hasDbXref NCI:C27575 semapv:UnspecifiedMatching DOID:3428 granulomatous myositis oboInOwl:hasDbXref UMLS_CUI:C1334150 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref ORDO:611 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis skos:exactMatch MESH:D018979 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref UMLS_CUI:C0238190 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref OMIM:147421 semapv:UnspecifiedMatching -DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD10CM:G72.41 semapv:UnspecifiedMatching +DOID:3429 inclusion body myositis oboInOwl:hasDbXref NCI:C84786 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref MESH:D018979 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD9CM:359.71 semapv:UnspecifiedMatching +DOID:3429 inclusion body myositis oboInOwl:hasDbXref ICD10CM:G72.41 semapv:UnspecifiedMatching DOID:3429 inclusion body myositis oboInOwl:hasDbXref GARD:3896 semapv:UnspecifiedMatching -DOID:3429 inclusion body myositis oboInOwl:hasDbXref NCI:C84786 semapv:UnspecifiedMatching DOID:3431 cerebritis oboInOwl:hasDbXref NCI:C27199 semapv:UnspecifiedMatching DOID:3431 cerebritis oboInOwl:hasDbXref UMLS_CUI:C0742115 semapv:UnspecifiedMatching DOID:3436 viral laryngitis oboInOwl:hasDbXref NCI:C27305 semapv:UnspecifiedMatching DOID:3436 viral laryngitis oboInOwl:hasDbXref UMLS_CUI:C0853195 semapv:UnspecifiedMatching -DOID:3437 laryngitis oboInOwl:hasDbXref NCI:C26811 semapv:UnspecifiedMatching DOID:3437 laryngitis oboInOwl:hasDbXref MESH:D007827 semapv:UnspecifiedMatching +DOID:3437 laryngitis oboInOwl:hasDbXref NCI:C26811 semapv:UnspecifiedMatching DOID:3437 laryngitis oboInOwl:hasDbXref UMLS_CUI:C0023067 semapv:UnspecifiedMatching -DOID:3443 mammary Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1368019 semapv:UnspecifiedMatching DOID:3443 mammary Paget's disease oboInOwl:hasDbXref NCI:C7073 semapv:UnspecifiedMatching +DOID:3443 mammary Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1368019 semapv:UnspecifiedMatching DOID:3444 scrotum Paget's disease oboInOwl:hasDbXref NCI:C7728 semapv:UnspecifiedMatching DOID:3444 scrotum Paget's disease oboInOwl:hasDbXref UMLS_CUI:C0238330 semapv:UnspecifiedMatching -DOID:3445 scrotal carcinoma oboInOwl:hasDbXref NCI:C6389 semapv:UnspecifiedMatching DOID:3445 scrotal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1370468 semapv:UnspecifiedMatching +DOID:3445 scrotal carcinoma oboInOwl:hasDbXref NCI:C6389 semapv:UnspecifiedMatching DOID:3446 anal Paget's disease oboInOwl:hasDbXref NCI:C5598 semapv:UnspecifiedMatching DOID:3446 anal Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1332274 semapv:UnspecifiedMatching DOID:3447 anus adenocarcinoma oboInOwl:hasDbXref NCI:C5600 semapv:UnspecifiedMatching @@ -22897,33 +22922,33 @@ DOID:3448 penis Paget's disease oboInOwl:hasDbXref NCI:C27817 semapv:Unspecified DOID:3448 penis Paget's disease oboInOwl:hasDbXref UMLS_CUI:C0221286 semapv:UnspecifiedMatching DOID:3449 penis carcinoma oboInOwl:hasDbXref NCI:C9061 semapv:UnspecifiedMatching DOID:3449 penis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0853105 semapv:UnspecifiedMatching +DOID:345 uterine disease oboInOwl:hasDbXref ICD10CM:N85.9 semapv:UnspecifiedMatching +DOID:345 uterine disease oboInOwl:hasDbXref ICD9CM:621.9 semapv:UnspecifiedMatching DOID:345 uterine disease oboInOwl:hasDbXref MESH:D014591 semapv:UnspecifiedMatching -DOID:345 uterine disease oboInOwl:hasDbXref UMLS_CUI:C0042131 semapv:UnspecifiedMatching DOID:345 uterine disease oboInOwl:hasDbXref NCI:C26907 semapv:UnspecifiedMatching -DOID:345 uterine disease oboInOwl:hasDbXref ICD9CM:621.9 semapv:UnspecifiedMatching -DOID:345 uterine disease oboInOwl:hasDbXref ICD10CM:N85.9 semapv:UnspecifiedMatching -DOID:3450 cutaneous Paget's disease oboInOwl:hasDbXref MESH:D010145 semapv:UnspecifiedMatching +DOID:345 uterine disease oboInOwl:hasDbXref UMLS_CUI:C0042131 semapv:UnspecifiedMatching DOID:3450 cutaneous Paget's disease oboInOwl:hasDbXref NCI:C3302 semapv:UnspecifiedMatching +DOID:3450 cutaneous Paget's disease oboInOwl:hasDbXref MESH:D010145 semapv:UnspecifiedMatching DOID:3451 skin carcinoma oboInOwl:hasDbXref NCI:C4914 semapv:UnspecifiedMatching DOID:3451 skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699893 semapv:UnspecifiedMatching DOID:3454 brain infarction oboInOwl:hasDbXref MESH:D020520 semapv:UnspecifiedMatching DOID:3454 brain infarction oboInOwl:hasDbXref UMLS_CUI:C0751955 semapv:UnspecifiedMatching DOID:3456 cervix erosion oboInOwl:hasDbXref MESH:D002579 semapv:UnspecifiedMatching DOID:3456 cervix erosion oboInOwl:hasDbXref UMLS_CUI:C0007869 semapv:UnspecifiedMatching -DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref MESH:D018275 semapv:UnspecifiedMatching DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref NCI:C3771 semapv:UnspecifiedMatching DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206692 semapv:UnspecifiedMatching -DOID:3458 breast adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0858252 semapv:UnspecifiedMatching +DOID:3457 invasive lobular carcinoma oboInOwl:hasDbXref MESH:D018275 semapv:UnspecifiedMatching DOID:3458 breast adenocarcinoma oboInOwl:hasDbXref NCI:C5214 semapv:UnspecifiedMatching -DOID:3459 breast carcinoma oboInOwl:hasDbXref NCI:C4872 semapv:UnspecifiedMatching -DOID:3459 breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0678222 semapv:UnspecifiedMatching +DOID:3458 breast adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0858252 semapv:UnspecifiedMatching DOID:3459 breast carcinoma oboInOwl:hasDbXref EFO:0000305 semapv:UnspecifiedMatching DOID:3459 breast carcinoma oboInOwl:hasDbXref MESH:D001943 semapv:UnspecifiedMatching +DOID:3459 breast carcinoma oboInOwl:hasDbXref NCI:C4872 semapv:UnspecifiedMatching +DOID:3459 breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0678222 semapv:UnspecifiedMatching +DOID:3463 breast disease oboInOwl:hasDbXref UMLS_CUI:C0006145 semapv:UnspecifiedMatching +DOID:3463 breast disease oboInOwl:hasDbXref NCI:C26709 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref ICD10CM:N64.9 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref ICD9CM:610-612.99 semapv:UnspecifiedMatching DOID:3463 breast disease oboInOwl:hasDbXref MESH:D001941 semapv:UnspecifiedMatching -DOID:3463 breast disease oboInOwl:hasDbXref NCI:C26709 semapv:UnspecifiedMatching -DOID:3463 breast disease oboInOwl:hasDbXref UMLS_CUI:C0006145 semapv:UnspecifiedMatching DOID:3478 iris cancer oboInOwl:hasDbXref MESH:D015811 semapv:UnspecifiedMatching DOID:3478 iris cancer oboInOwl:hasDbXref NCI:C3142 semapv:UnspecifiedMatching DOID:3478 iris cancer oboInOwl:hasDbXref NCI:C4554 semapv:UnspecifiedMatching @@ -22931,22 +22956,22 @@ DOID:3478 iris cancer oboInOwl:hasDbXref UMLS_CUI:C0022079 semapv:UnspecifiedMat DOID:3478 iris cancer oboInOwl:hasDbXref UMLS_CUI:C0346372 semapv:UnspecifiedMatching DOID:3479 uveal cancer oboInOwl:hasDbXref NCI:C6105 semapv:UnspecifiedMatching DOID:3479 uveal cancer oboInOwl:hasDbXref UMLS_CUI:C3665670 semapv:UnspecifiedMatching -DOID:348 blepharochalasis oboInOwl:hasDbXref UMLS_CUI:C0005742 semapv:UnspecifiedMatching DOID:348 blepharochalasis oboInOwl:hasDbXref ICD10CM:H02.3 semapv:UnspecifiedMatching DOID:348 blepharochalasis oboInOwl:hasDbXref ICD9CM:374.34 semapv:UnspecifiedMatching +DOID:348 blepharochalasis oboInOwl:hasDbXref UMLS_CUI:C0005742 semapv:UnspecifiedMatching +DOID:3480 uveal disease oboInOwl:hasDbXref UMLS_CUI:C0042161 semapv:UnspecifiedMatching +DOID:3480 uveal disease oboInOwl:hasDbXref NCI:C26908 semapv:UnspecifiedMatching DOID:3480 uveal disease oboInOwl:hasDbXref GARD:8192 semapv:UnspecifiedMatching DOID:3480 uveal disease oboInOwl:hasDbXref MESH:D014603 semapv:UnspecifiedMatching -DOID:3480 uveal disease oboInOwl:hasDbXref NCI:C26908 semapv:UnspecifiedMatching -DOID:3480 uveal disease oboInOwl:hasDbXref UMLS_CUI:C0042161 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref ICD10CM:A20.7 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref ICD9CM:020.2 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching DOID:3481 septicemic plague oboInOwl:hasDbXref UMLS_CUI:C0152936 semapv:UnspecifiedMatching -DOID:3482 plague oboInOwl:hasDbXref UMLS_CUI:C0032064 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref ICD10CM:A20 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref ICD9CM:020 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref MESH:D010930 semapv:UnspecifiedMatching DOID:3482 plague oboInOwl:hasDbXref NCI:C85015 semapv:UnspecifiedMatching +DOID:3482 plague oboInOwl:hasDbXref UMLS_CUI:C0032064 semapv:UnspecifiedMatching DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref UMLS_CUI:C0027538 semapv:UnspecifiedMatching DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref NCI:C34840 semapv:UnspecifiedMatching DOID:3486 necrobiosis lipoidica oboInOwl:hasDbXref GARD:13040 semapv:UnspecifiedMatching @@ -22957,50 +22982,50 @@ DOID:3488 cellulitis oboInOwl:hasDbXref NCI:C26715 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref NCI:C34454 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref UMLS_CUI:C0007642 semapv:UnspecifiedMatching DOID:3488 cellulitis oboInOwl:hasDbXref UMLS_CUI:C0007646 semapv:UnspecifiedMatching +DOID:349 systemic mastocytosis oboInOwl:hasDbXref NCI:C9235 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref GARD:8616 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref ICD10CM:D47.02 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching -DOID:349 systemic mastocytosis oboInOwl:hasDbXref NCI:C9235 semapv:UnspecifiedMatching DOID:349 systemic mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0221013 semapv:UnspecifiedMatching -DOID:3490 Noonan syndrome oboInOwl:hasDbXref UMLS_CUI:C0028326 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref ORDO:648 semapv:UnspecifiedMatching +DOID:3490 Noonan syndrome oboInOwl:hasDbXref UMLS_CUI:C0028326 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref OMIMPS:163950 semapv:UnspecifiedMatching +DOID:3490 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref NCI:C34854 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:3490 Noonan syndrome oboInOwl:hasDbXref GARD:10955 semapv:UnspecifiedMatching -DOID:3490 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS_CUI:C1527168 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS_CUI:C0041408 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref NCI:C26900 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref NCI:C34434 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref ICD10CM:Q96 semapv:UnspecifiedMatching -DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:7831 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:2540 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref GARD:7831 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref ICD10CM:Q96 semapv:UnspecifiedMatching DOID:3491 Turner syndrome oboInOwl:hasDbXref MESH:D014424 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref NCI:C26900 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref NCI:C34434 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS_CUI:C0041408 semapv:UnspecifiedMatching +DOID:3491 Turner syndrome oboInOwl:hasDbXref UMLS_CUI:C1527168 semapv:UnspecifiedMatching +DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref NCI:C84892 semapv:UnspecifiedMatching +DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref UMLS_CUI:C0026272 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref GARD:7051 semapv:UnspecifiedMatching DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref ICD10CM:M35.1 semapv:UnspecifiedMatching -DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 semapv:UnspecifiedMatching -DOID:3492 mixed connective tissue disease oboInOwl:hasDbXref NCI:C84892 semapv:UnspecifiedMatching -DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206696 semapv:UnspecifiedMatching DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref MESH:D018279 semapv:UnspecifiedMatching DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C3774 semapv:UnspecifiedMatching +DOID:3493 signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206696 semapv:UnspecifiedMatching DOID:3494 bile duct signet ring cell carcinoma oboInOwl:hasDbXref NCI:C5776 semapv:UnspecifiedMatching DOID:3494 bile duct signet ring cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861859 semapv:UnspecifiedMatching -DOID:3495 extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref NCI:C7975 semapv:UnspecifiedMatching DOID:3495 extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279659 semapv:UnspecifiedMatching +DOID:3495 extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref NCI:C7975 semapv:UnspecifiedMatching DOID:3497 pancreatic signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5720 semapv:UnspecifiedMatching DOID:3497 pancreatic signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335317 semapv:UnspecifiedMatching DOID:3498 pancreatic ductal adenocarcinoma oboInOwl:hasDbXref NCI:C9120 semapv:UnspecifiedMatching DOID:3498 pancreatic ductal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335302 semapv:UnspecifiedMatching DOID:3499 gallbladder signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5745 semapv:UnspecifiedMatching DOID:3499 gallbladder signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333758 semapv:UnspecifiedMatching -DOID:350 mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0024899 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching -DOID:350 mastocytosis oboInOwl:hasDbXref NCI:C84269 semapv:UnspecifiedMatching -DOID:350 mastocytosis oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching -DOID:350 mastocytosis oboInOwl:hasDbXref GARD:6987 semapv:UnspecifiedMatching +DOID:350 mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0024899 semapv:UnspecifiedMatching DOID:350 mastocytosis oboInOwl:hasDbXref MESH:D008415 semapv:UnspecifiedMatching +DOID:350 mastocytosis oboInOwl:hasDbXref GARD:6987 semapv:UnspecifiedMatching +DOID:350 mastocytosis oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching +DOID:350 mastocytosis oboInOwl:hasDbXref NCI:C84269 semapv:UnspecifiedMatching DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref NCI:C9166 semapv:UnspecifiedMatching DOID:3500 gallbladder adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279651 semapv:UnspecifiedMatching DOID:3501 ampullary signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C6656 semapv:UnspecifiedMatching @@ -23011,11 +23036,11 @@ DOID:3503 breast signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5175 se DOID:3503 breast signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335964 semapv:UnspecifiedMatching DOID:3504 prostate signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5535 semapv:UnspecifiedMatching DOID:3504 prostate signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335520 semapv:UnspecifiedMatching -DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching -DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:D018223 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref UMLS_CUI:C0206647 semapv:UnspecifiedMatching -DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref GARD:9569 semapv:UnspecifiedMatching +DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref OMIM:607907 semapv:UnspecifiedMatching DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref ICDO:8832/1 semapv:UnspecifiedMatching +DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref GARD:9569 semapv:UnspecifiedMatching +DOID:3507 dermatofibrosarcoma protuberans oboInOwl:hasDbXref MESH:D018223 semapv:UnspecifiedMatching DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref ICD9CM:593.3 semapv:UnspecifiedMatching DOID:3508 stricture or kinking of ureter oboInOwl:hasDbXref UMLS_CUI:C0156261 semapv:UnspecifiedMatching DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref GARD:8211 semapv:UnspecifiedMatching @@ -23023,114 +23048,114 @@ DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref MESH:D018319 semapv:UnspecifiedMa DOID:3512 neurofibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206729 semapv:UnspecifiedMatching DOID:3516 adult fibrosarcoma oboInOwl:hasDbXref NCI:C7809 semapv:UnspecifiedMatching DOID:3516 adult fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278595 semapv:UnspecifiedMatching -DOID:3517 conventional fibrosarcoma oboInOwl:hasDbXref NCI:C9429 semapv:UnspecifiedMatching DOID:3517 conventional fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333156 semapv:UnspecifiedMatching -DOID:3520 childhood fibrosarcoma oboInOwl:hasDbXref NCI:C8088 semapv:UnspecifiedMatching +DOID:3517 conventional fibrosarcoma oboInOwl:hasDbXref NCI:C9429 semapv:UnspecifiedMatching DOID:3520 childhood fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279981 semapv:UnspecifiedMatching -DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref NCI:C84807 semapv:UnspecifiedMatching +DOID:3520 childhood fibrosarcoma oboInOwl:hasDbXref NCI:C8088 semapv:UnspecifiedMatching DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref UMLS_CUI:C0043019 semapv:UnspecifiedMatching +DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref NCI:C84807 semapv:UnspecifiedMatching DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref ICD10CM:G46.3 semapv:UnspecifiedMatching DOID:3522 lateral medullary syndrome oboInOwl:hasDbXref MESH:D014854 semapv:UnspecifiedMatching DOID:3523 brain stem infarction oboInOwl:hasDbXref MESH:D020526 semapv:UnspecifiedMatching DOID:3523 brain stem infarction oboInOwl:hasDbXref UMLS_CUI:C0521542 semapv:UnspecifiedMatching DOID:3525 middle cerebral artery infarction oboInOwl:hasDbXref MESH:D020244 semapv:UnspecifiedMatching DOID:3525 middle cerebral artery infarction oboInOwl:hasDbXref UMLS_CUI:C0740392 semapv:UnspecifiedMatching -DOID:3526 cerebral infarction oboInOwl:hasDbXref UMLS_CUI:C0007785 semapv:UnspecifiedMatching -DOID:3526 cerebral infarction oboInOwl:hasDbXref NCI:C50486 semapv:UnspecifiedMatching -DOID:3526 cerebral infarction oboInOwl:hasDbXref OMIM:601367 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref ICD10CM:I63 semapv:UnspecifiedMatching DOID:3526 cerebral infarction oboInOwl:hasDbXref MESH:D002544 semapv:UnspecifiedMatching -DOID:3527 cerebral arterial disease oboInOwl:hasDbXref MESH:D002539 semapv:UnspecifiedMatching +DOID:3526 cerebral infarction oboInOwl:hasDbXref NCI:C50486 semapv:UnspecifiedMatching +DOID:3526 cerebral infarction oboInOwl:hasDbXref OMIM:601367 semapv:UnspecifiedMatching +DOID:3526 cerebral infarction oboInOwl:hasDbXref UMLS_CUI:C0007785 semapv:UnspecifiedMatching DOID:3527 cerebral arterial disease oboInOwl:hasDbXref UMLS_CUI:C0007774 semapv:UnspecifiedMatching -DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020243 semapv:UnspecifiedMatching +DOID:3527 cerebral arterial disease oboInOwl:hasDbXref MESH:D002539 semapv:UnspecifiedMatching DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref UMLS_CUI:C0751843 semapv:UnspecifiedMatching -DOID:3529 central core disease oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching -DOID:3529 central core disease oboInOwl:hasDbXref UMLS_CUI:C0751951 semapv:UnspecifiedMatching -DOID:3529 central core disease oboInOwl:hasDbXref ORDO:597 semapv:UnspecifiedMatching -DOID:3529 central core disease oboInOwl:hasDbXref NCI:C83010 semapv:UnspecifiedMatching +DOID:3528 anterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020243 semapv:UnspecifiedMatching +DOID:3529 central core disease oboInOwl:hasDbXref GARD:6014 semapv:UnspecifiedMatching DOID:3529 central core disease oboInOwl:hasDbXref ICD10CM:G71.29 semapv:UnspecifiedMatching DOID:3529 central core disease oboInOwl:hasDbXref MESH:D020512 semapv:UnspecifiedMatching -DOID:3529 central core disease oboInOwl:hasDbXref GARD:6014 semapv:UnspecifiedMatching +DOID:3529 central core disease oboInOwl:hasDbXref NCI:C83010 semapv:UnspecifiedMatching +DOID:3529 central core disease oboInOwl:hasDbXref OMIM:117000 semapv:UnspecifiedMatching +DOID:3529 central core disease oboInOwl:hasDbXref ORDO:597 semapv:UnspecifiedMatching +DOID:3529 central core disease oboInOwl:hasDbXref UMLS_CUI:C0751951 semapv:UnspecifiedMatching DOID:3530 chronic wasting disease oboInOwl:hasDbXref MESH:D034081 semapv:UnspecifiedMatching DOID:3530 chronic wasting disease oboInOwl:hasDbXref UMLS_CUI:C1135993 semapv:UnspecifiedMatching -DOID:3534 Lafora disease oboInOwl:hasDbXref GARD:8214 semapv:UnspecifiedMatching -DOID:3534 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching +DOID:3534 Lafora disease oboInOwl:hasDbXref UMLS_CUI:C0751783 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref NCI:C84804 semapv:UnspecifiedMatching DOID:3534 Lafora disease oboInOwl:hasDbXref OMIM:254780 semapv:UnspecifiedMatching -DOID:3534 Lafora disease oboInOwl:hasDbXref UMLS_CUI:C0751783 semapv:UnspecifiedMatching +DOID:3534 Lafora disease oboInOwl:hasDbXref GARD:8214 semapv:UnspecifiedMatching +DOID:3534 Lafora disease oboInOwl:hasDbXref MESH:D020192 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref GARD:3876 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref MESH:D020194 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref NCI:C179710 semapv:UnspecifiedMatching DOID:3535 Unverricht-Lundborg syndrome oboInOwl:hasDbXref UMLS_CUI:C0751785 semapv:UnspecifiedMatching -DOID:3540 choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0085138 semapv:UnspecifiedMatching -DOID:3540 choroid plexus cancer oboInOwl:hasDbXref NCI:C3473 semapv:UnspecifiedMatching DOID:3540 choroid plexus cancer oboInOwl:hasDbXref MESH:D016545 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref GARD:6025 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref ICD10CM:C71.5 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref ICD9CM:191.5 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref MESH:D002551 semapv:UnspecifiedMatching +DOID:3540 choroid plexus cancer oboInOwl:hasDbXref NCI:C3473 semapv:UnspecifiedMatching +DOID:3540 choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0085138 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref NCI:C2937 semapv:UnspecifiedMatching -DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS_CUI:C0007798 semapv:UnspecifiedMatching DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS_CUI:C0346906 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref UMLS_CUI:C0007798 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref ICD9CM:191.5 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref ICD10CM:C71.5 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref GARD:6025 semapv:UnspecifiedMatching +DOID:3541 cerebral ventricle cancer oboInOwl:hasDbXref MESH:D002551 semapv:UnspecifiedMatching DOID:3542 adult choroid plexus cancer oboInOwl:hasDbXref NCI:C8568 semapv:UnspecifiedMatching DOID:3542 adult choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0796430 semapv:UnspecifiedMatching +DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref ICDO:9390/1 semapv:UnspecifiedMatching DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref NCI:C53686 semapv:UnspecifiedMatching DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref UMLS_CUI:C1266176 semapv:UnspecifiedMatching -DOID:3544 atypical choroid plexus papilloma oboInOwl:hasDbXref ICDO:9390/1 semapv:UnspecifiedMatching DOID:3545 childhood choroid plexus cancer oboInOwl:hasDbXref UMLS_CUI:C0280623 semapv:UnspecifiedMatching DOID:3545 childhood choroid plexus cancer oboInOwl:hasDbXref NCI:C42080 semapv:UnspecifiedMatching -DOID:355 mast-cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.22 semapv:UnspecifiedMatching -DOID:355 mast-cell sarcoma oboInOwl:hasDbXref ICD9CM:202.6 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref MESH:D012515 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref NCI:C9348 semapv:UnspecifiedMatching +DOID:355 mast-cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.22 semapv:UnspecifiedMatching +DOID:355 mast-cell sarcoma oboInOwl:hasDbXref ICD9CM:202.6 semapv:UnspecifiedMatching DOID:355 mast-cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0036221 semapv:UnspecifiedMatching -DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref GARD:7712 semapv:UnspecifiedMatching -DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref MESH:D013478 semapv:UnspecifiedMatching -DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref NCI:C85175 semapv:UnspecifiedMatching DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref ORDO:622099 semapv:UnspecifiedMatching +DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref NCI:C85175 semapv:UnspecifiedMatching DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref UMLS_CUI:C0038828 semapv:UnspecifiedMatching -DOID:3558 duodenal obstruction oboInOwl:hasDbXref UMLS_CUI:C0013292 semapv:UnspecifiedMatching +DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref GARD:7712 semapv:UnspecifiedMatching +DOID:3557 superior mesenteric artery syndrome oboInOwl:hasDbXref MESH:D013478 semapv:UnspecifiedMatching DOID:3558 duodenal obstruction oboInOwl:hasDbXref NCI:C79548 semapv:UnspecifiedMatching +DOID:3558 duodenal obstruction oboInOwl:hasDbXref UMLS_CUI:C0013292 semapv:UnspecifiedMatching DOID:3558 duodenal obstruction oboInOwl:hasDbXref ICD10CM:K31.5 semapv:UnspecifiedMatching DOID:3558 duodenal obstruction oboInOwl:hasDbXref MESH:D004380 semapv:UnspecifiedMatching -DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref GARD:7488 semapv:UnspecifiedMatching -DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref ICDO:8480/6 semapv:UnspecifiedMatching -DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:UnspecifiedMatching DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref NCI:C3345 semapv:UnspecifiedMatching DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref UMLS_CUI:C0033822 semapv:UnspecifiedMatching +DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:UnspecifiedMatching +DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref GARD:7488 semapv:UnspecifiedMatching +DOID:3559 pseudomyxoma peritonei oboInOwl:hasDbXref ICDO:8480/6 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref GARD:7015 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref ICD10CM:D32.9 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref ICDO:9530/0 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching +DOID:3565 meningioma oboInOwl:hasDbXref NCI:C3230 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref NCI:C6971 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref UMLS_CUI:C0025286 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref NCI:C3230 semapv:UnspecifiedMatching DOID:3565 meningioma oboInOwl:hasDbXref UMLS_CUI:C1334698 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref ICDO:9530/0 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref ICD10CM:D32.9 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref GARD:7015 semapv:UnspecifiedMatching -DOID:3565 meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0024620 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0023903 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0854795 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0345904 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0024620 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref UMLS_CUI:C0023903 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref NCI:C7692 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref ICD9CM:155.0 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref MESH:D008113 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref ICD10CM:C22.0 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref ICD9CM:155.2 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref ICD9CM:155.0 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref ICD10CM:C22.9 semapv:UnspecifiedMatching +DOID:3571 liver cancer oboInOwl:hasDbXref ICD10CM:C22.0 semapv:UnspecifiedMatching DOID:3571 liver cancer oboInOwl:hasDbXref NCI:C34803 semapv:UnspecifiedMatching -DOID:3571 liver cancer oboInOwl:hasDbXref ICD9CM:155.2 semapv:UnspecifiedMatching DOID:3572 intracranial sinus thrombosis oboInOwl:hasDbXref MESH:D012851 semapv:UnspecifiedMatching DOID:3572 intracranial sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0037198 semapv:UnspecifiedMatching DOID:3574 lateral sinus thrombosis oboInOwl:hasDbXref MESH:D020227 semapv:UnspecifiedMatching DOID:3574 lateral sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0270639 semapv:UnspecifiedMatching DOID:3575 cavernous sinus thrombosis oboInOwl:hasDbXref MESH:D020226 semapv:UnspecifiedMatching DOID:3575 cavernous sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0238454 semapv:UnspecifiedMatching -DOID:3576 sagittal sinus thrombosis oboInOwl:hasDbXref MESH:D020225 semapv:UnspecifiedMatching DOID:3576 sagittal sinus thrombosis oboInOwl:hasDbXref UMLS_CUI:C0338575 semapv:UnspecifiedMatching -DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref ICDO:8640/1 semapv:UnspecifiedMatching -DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref MESH:D012707 semapv:UnspecifiedMatching +DOID:3576 sagittal sinus thrombosis oboInOwl:hasDbXref MESH:D020225 semapv:UnspecifiedMatching DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref NCI:C39976 semapv:UnspecifiedMatching DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref UMLS_CUI:C0036769 semapv:UnspecifiedMatching -DOID:3578 ovarian gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C1518716 semapv:UnspecifiedMatching +DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref ICDO:8640/1 semapv:UnspecifiedMatching +DOID:3577 Sertoli cell tumor oboInOwl:hasDbXref MESH:D012707 semapv:UnspecifiedMatching DOID:3578 ovarian gonadoblastoma oboInOwl:hasDbXref NCI:C39985 semapv:UnspecifiedMatching +DOID:3578 ovarian gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C1518716 semapv:UnspecifiedMatching DOID:3579 testicular gonadoblastoma oboInOwl:hasDbXref NCI:C39911 semapv:UnspecifiedMatching DOID:3579 testicular gonadoblastoma oboInOwl:hasDbXref UMLS_CUI:C1515283 semapv:UnspecifiedMatching DOID:3587 pancreatic ductal carcinoma oboInOwl:hasDbXref ICD10CM:C25.3 semapv:UnspecifiedMatching @@ -23142,66 +23167,66 @@ DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C113586 DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0278796 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020217 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref OMIM:231090 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C7887 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C4699 semapv:UnspecifiedMatching -DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C3110 semapv:UnspecifiedMatching +DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C7887 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref MESH:D031901 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref MESH:D006828 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref ICD9CM:630 semapv:UnspecifiedMatching DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref ICD10CM:O01 semapv:UnspecifiedMatching +DOID:3590 gestational trophoblastic neoplasm oboInOwl:hasDbXref NCI:C3110 semapv:UnspecifiedMatching DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref NCI:C6900 semapv:UnspecifiedMatching DOID:3593 epithelioid trophoblastic tumor oboInOwl:hasDbXref UMLS_CUI:C1266159 semapv:UnspecifiedMatching -DOID:3594 choriocarcinoma oboInOwl:hasDbXref GARD:6059 semapv:UnspecifiedMatching +DOID:3594 choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0008497 semapv:UnspecifiedMatching +DOID:3594 choriocarcinoma oboInOwl:hasDbXref NCI:C2948 semapv:UnspecifiedMatching +DOID:3594 choriocarcinoma oboInOwl:hasDbXref MESH:D002822 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref ICD10CM:C58 semapv:UnspecifiedMatching +DOID:3594 choriocarcinoma oboInOwl:hasDbXref GARD:6059 semapv:UnspecifiedMatching DOID:3594 choriocarcinoma oboInOwl:hasDbXref ICDO:9100/3 semapv:UnspecifiedMatching -DOID:3594 choriocarcinoma oboInOwl:hasDbXref MESH:D002822 semapv:UnspecifiedMatching -DOID:3594 choriocarcinoma oboInOwl:hasDbXref NCI:C2948 semapv:UnspecifiedMatching -DOID:3594 choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0008497 semapv:UnspecifiedMatching DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref UMLS_CUI:C0206666 semapv:UnspecifiedMatching -DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref NCI:C3757 semapv:UnspecifiedMatching DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref ICDO:9104/1 semapv:UnspecifiedMatching DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref MESH:D018245 semapv:UnspecifiedMatching -DOID:3602 toxic encephalopathy oboInOwl:hasDbXref MESH:D020258 semapv:UnspecifiedMatching +DOID:3596 placental site trophoblastic tumor oboInOwl:hasDbXref NCI:C3757 semapv:UnspecifiedMatching DOID:3602 toxic encephalopathy oboInOwl:hasDbXref NCI:C27961 semapv:UnspecifiedMatching DOID:3602 toxic encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0235032 semapv:UnspecifiedMatching +DOID:3602 toxic encephalopathy oboInOwl:hasDbXref MESH:D020258 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref ICDO:8470/3 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref MESH:D018282 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C3776 semapv:UnspecifiedMatching DOID:3603 mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206699 semapv:UnspecifiedMatching DOID:3604 ovarian mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C4026 semapv:UnspecifiedMatching DOID:3604 ovarian mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279665 semapv:UnspecifiedMatching -DOID:3605 ovarian cystadenocarcinoma oboInOwl:hasDbXref NCI:C5228 semapv:UnspecifiedMatching DOID:3605 ovarian cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1096638 semapv:UnspecifiedMatching -DOID:3606 ovarian mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335167 semapv:UnspecifiedMatching +DOID:3605 ovarian cystadenocarcinoma oboInOwl:hasDbXref NCI:C5228 semapv:UnspecifiedMatching DOID:3606 ovarian mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C5243 semapv:UnspecifiedMatching +DOID:3606 ovarian mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335167 semapv:UnspecifiedMatching DOID:3607 appendix mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C5511 semapv:UnspecifiedMatching DOID:3607 appendix mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1096639 semapv:UnspecifiedMatching DOID:3608 appendix adenocarcinoma oboInOwl:hasDbXref NCI:C7718 semapv:UnspecifiedMatching DOID:3608 appendix adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0238003 semapv:UnspecifiedMatching -DOID:3609 breast mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C40354 semapv:UnspecifiedMatching DOID:3609 breast mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511318 semapv:UnspecifiedMatching +DOID:3609 breast mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C40354 semapv:UnspecifiedMatching +DOID:361 cervix endometriosis oboInOwl:hasDbXref UMLS_CUI:C0269107 semapv:UnspecifiedMatching DOID:361 cervix endometriosis oboInOwl:hasDbXref ICD10CM:N80.0 semapv:UnspecifiedMatching DOID:361 cervix endometriosis oboInOwl:hasDbXref NCI:C27623 semapv:UnspecifiedMatching -DOID:361 cervix endometriosis oboInOwl:hasDbXref UMLS_CUI:C0269107 semapv:UnspecifiedMatching -DOID:3610 breast mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334807 semapv:UnspecifiedMatching DOID:3610 breast mucinous carcinoma oboInOwl:hasDbXref NCI:C9131 semapv:UnspecifiedMatching -DOID:3611 acute retinal necrosis syndrome oboInOwl:hasDbXref UMLS_CUI:C0035319 semapv:UnspecifiedMatching +DOID:3610 breast mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334807 semapv:UnspecifiedMatching DOID:3611 acute retinal necrosis syndrome oboInOwl:hasDbXref MESH:D015882 semapv:UnspecifiedMatching +DOID:3611 acute retinal necrosis syndrome oboInOwl:hasDbXref UMLS_CUI:C0035319 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref MESH:D012173 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref NCI:C115993 semapv:UnspecifiedMatching DOID:3612 retinitis oboInOwl:hasDbXref UMLS_CUI:C0035333 semapv:UnspecifiedMatching -DOID:3613 Canavan disease oboInOwl:hasDbXref GARD:5984 semapv:UnspecifiedMatching -DOID:3613 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching -DOID:3613 Canavan disease oboInOwl:hasDbXref NCI:C84611 semapv:UnspecifiedMatching -DOID:3613 Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching DOID:3613 Canavan disease oboInOwl:hasDbXref UMLS_CUI:C0206307 semapv:UnspecifiedMatching -DOID:3614 Kallmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0162809 semapv:UnspecifiedMatching +DOID:3613 Canavan disease oboInOwl:hasDbXref OMIM:271900 semapv:UnspecifiedMatching +DOID:3613 Canavan disease oboInOwl:hasDbXref NCI:C84611 semapv:UnspecifiedMatching +DOID:3613 Canavan disease oboInOwl:hasDbXref MESH:D017825 semapv:UnspecifiedMatching +DOID:3613 Canavan disease oboInOwl:hasDbXref GARD:5984 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref ORDO:478 semapv:UnspecifiedMatching +DOID:3614 Kallmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0162809 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref NCI:C75479 semapv:UnspecifiedMatching -DOID:3614 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:3614 Kallmann syndrome oboInOwl:hasDbXref GARD:10771 semapv:UnspecifiedMatching +DOID:3614 Kallmann syndrome oboInOwl:hasDbXref MESH:D017436 semapv:UnspecifiedMatching DOID:3615 infiltrating angiolipoma oboInOwl:hasDbXref NCI:C7449 semapv:UnspecifiedMatching DOID:3615 infiltrating angiolipoma oboInOwl:hasDbXref UMLS_CUI:C1305256 semapv:UnspecifiedMatching DOID:3616 angiolipoma oboInOwl:hasDbXref ICDO:8861/0 semapv:UnspecifiedMatching @@ -23221,42 +23246,42 @@ DOID:3620 central nervous system cancer oboInOwl:hasDbXref NCI:C4627 semapv:Unsp DOID:3620 central nervous system cancer oboInOwl:hasDbXref NCI:C9293 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0085136 semapv:UnspecifiedMatching DOID:3620 central nervous system cancer oboInOwl:hasDbXref UMLS_CUI:C0348374 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27046 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0003486 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27198 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27299 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0003486 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C26697 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0265012 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C1305122 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm skos:exactMatch MESH:D001019 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0265010 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref MESH:D001019 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C27046 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0741160 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C1305122 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm skos:exactMatch MESH:D001014 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD9CM:441.6 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref MESH:D001014 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm skos:exactMatch MESH:D001019 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0265012 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref NCI:C26697 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.1 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.3 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.5 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0741160 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.9 semapv:UnspecifiedMatching -DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD9CM:441.3 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref MESH:D001014 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD9CM:441.6 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD9CM:441.5 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD9CM:441.3 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD9CM:441.1 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.9 semapv:UnspecifiedMatching DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.8 semapv:UnspecifiedMatching -DOID:363 uterine cancer oboInOwl:hasDbXref ICD10CM:C55 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.5 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref ICD10CM:I71.3 semapv:UnspecifiedMatching +DOID:3627 aortic aneurysm oboInOwl:hasDbXref MESH:D001019 semapv:UnspecifiedMatching +DOID:363 uterine cancer oboInOwl:hasDbXref UMLS_CUI:C0153567 semapv:UnspecifiedMatching +DOID:363 uterine cancer oboInOwl:hasDbXref UMLS_CUI:C0042138 semapv:UnspecifiedMatching +DOID:363 uterine cancer oboInOwl:hasDbXref NCI:C3552 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref ICD9CM:179 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref MESH:D014594 semapv:UnspecifiedMatching +DOID:363 uterine cancer oboInOwl:hasDbXref ICD10CM:C55 semapv:UnspecifiedMatching DOID:363 uterine cancer oboInOwl:hasDbXref NCI:C3435 semapv:UnspecifiedMatching -DOID:363 uterine cancer oboInOwl:hasDbXref NCI:C3552 semapv:UnspecifiedMatching -DOID:363 uterine cancer oboInOwl:hasDbXref UMLS_CUI:C0042138 semapv:UnspecifiedMatching -DOID:363 uterine cancer oboInOwl:hasDbXref UMLS_CUI:C0153567 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref MESH:D044905 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref NCI:C84596 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref OMIM:248510 semapv:UnspecifiedMatching DOID:3633 beta-mannosidosis oboInOwl:hasDbXref UMLS_CUI:C4048196 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref UMLS_CUI:C0751882 semapv:UnspecifiedMatching -DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref ORDO:590 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref OMIMPS:601462 semapv:UnspecifiedMatching +DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref ORDO:590 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref MESH:D020294 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref GARD:11902 semapv:UnspecifiedMatching DOID:3635 congenital myasthenic syndrome oboInOwl:hasDbXref NCI:C84647 semapv:UnspecifiedMatching @@ -23268,11 +23293,11 @@ DOID:3640 central nervous system teratoma oboInOwl:hasDbXref NCI:C5441 semapv:Un DOID:3640 central nervous system teratoma oboInOwl:hasDbXref UMLS_CUI:C1332895 semapv:UnspecifiedMatching DOID:3641 conus medullaris neoplasm oboInOwl:hasDbXref NCI:C5443 semapv:UnspecifiedMatching DOID:3641 conus medullaris neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333153 semapv:UnspecifiedMatching -DOID:3642 empty sella syndrome oboInOwl:hasDbXref UMLS_CUI:C0014008 semapv:UnspecifiedMatching DOID:3642 empty sella syndrome skos:exactMatch MESH:D004652 semapv:UnspecifiedMatching -DOID:3642 empty sella syndrome oboInOwl:hasDbXref MESH:D004652 semapv:UnspecifiedMatching -DOID:3642 empty sella syndrome oboInOwl:hasDbXref GARD:6331 semapv:UnspecifiedMatching +DOID:3642 empty sella syndrome oboInOwl:hasDbXref UMLS_CUI:C0014008 semapv:UnspecifiedMatching DOID:3642 empty sella syndrome oboInOwl:hasDbXref NCI:C84686 semapv:UnspecifiedMatching +DOID:3642 empty sella syndrome oboInOwl:hasDbXref GARD:6331 semapv:UnspecifiedMatching +DOID:3642 empty sella syndrome oboInOwl:hasDbXref MESH:D004652 semapv:UnspecifiedMatching DOID:3643 sella turcica neoplasm oboInOwl:hasDbXref NCI:C4944 semapv:UnspecifiedMatching DOID:3643 sella turcica neoplasm oboInOwl:hasDbXref UMLS_CUI:C0748616 semapv:UnspecifiedMatching DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref MESH:D007029 semapv:UnspecifiedMatching @@ -23280,32 +23305,32 @@ DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref NCI:C3129 semapv:UnspecifiedM DOID:3644 hypothalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0020659 semapv:UnspecifiedMatching DOID:3646 necrosis of pituitary oboInOwl:hasDbXref NCI:C27066 semapv:UnspecifiedMatching DOID:3646 necrosis of pituitary oboInOwl:hasDbXref UMLS_CUI:C0271558 semapv:UnspecifiedMatching +DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0034345 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ORDO:79243 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:614111 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:608782 semapv:UnspecifiedMatching -DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:312170 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:245349 semapv:UnspecifiedMatching +DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ORDO:79243 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref NCI:C103968 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref MESH:D015325 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref GARD:7513 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref GARD:4620 semapv:UnspecifiedMatching DOID:3649 pyruvate decarboxylase deficiency oboInOwl:hasDbXref OMIM:245348 semapv:UnspecifiedMatching -DOID:365 bladder disease oboInOwl:hasDbXref UMLS_CUI:C0005686 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref ICD10CM:N32.9 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref ICD9CM:596.9 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref MESH:D001745 semapv:UnspecifiedMatching DOID:365 bladder disease oboInOwl:hasDbXref NCI:C2900 semapv:UnspecifiedMatching -DOID:3650 lactic acidosis oboInOwl:hasDbXref UMLS_CUI:C0001125 semapv:UnspecifiedMatching +DOID:365 bladder disease oboInOwl:hasDbXref UMLS_CUI:C0005686 semapv:UnspecifiedMatching DOID:3650 lactic acidosis oboInOwl:hasDbXref NCI:C98969 semapv:UnspecifiedMatching +DOID:3650 lactic acidosis oboInOwl:hasDbXref UMLS_CUI:C0001125 semapv:UnspecifiedMatching DOID:3650 lactic acidosis oboInOwl:hasDbXref ICD10CM:E87.20 semapv:UnspecifiedMatching DOID:3650 lactic acidosis oboInOwl:hasDbXref MESH:D000140 semapv:UnspecifiedMatching -DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0034341 semapv:UnspecifiedMatching -DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching +DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref MESH:D015324 semapv:UnspecifiedMatching DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref NCI:C85040 semapv:UnspecifiedMatching -DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref ICD10CM:E74.4 semapv:UnspecifiedMatching +DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref OMIM:266150 semapv:UnspecifiedMatching +DOID:3651 pyruvate carboxylase deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0034341 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref GARD:6877 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref ICD10CM:G31.82 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMatching @@ -23313,13 +23338,13 @@ DOID:3652 Leigh disease oboInOwl:hasDbXref NCI:C84814 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref ORDO:506 semapv:UnspecifiedMatching DOID:3652 Leigh disease oboInOwl:hasDbXref UMLS_CUI:C0023264 semapv:UnspecifiedMatching -DOID:3659 sialuria oboInOwl:hasDbXref MESH:D029461 semapv:UnspecifiedMatching -DOID:3659 sialuria oboInOwl:hasDbXref NCI:C85067 semapv:UnspecifiedMatching -DOID:3659 sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching +DOID:3659 sialuria oboInOwl:hasDbXref OMIM:269921 semapv:UnspecifiedMatching DOID:3659 sialuria oboInOwl:hasDbXref UMLS_CUI:C0342853 semapv:UnspecifiedMatching -DOID:3660 wheat allergy oboInOwl:hasDbXref UMLS_CUI:C0949570 semapv:UnspecifiedMatching +DOID:3659 sialuria oboInOwl:hasDbXref MESH:D029461 semapv:UnspecifiedMatching +DOID:3659 sialuria oboInOwl:hasDbXref NCI:C85067 semapv:UnspecifiedMatching DOID:3660 wheat allergy oboInOwl:hasDbXref MESH:D021182 semapv:UnspecifiedMatching +DOID:3660 wheat allergy oboInOwl:hasDbXref UMLS_CUI:C0949570 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref GARD:7842 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching @@ -23328,18 +23353,18 @@ DOID:3663 cutaneous mastocytosis oboInOwl:hasDbXref UMLS_CUI:C1136033 semapv:Uns DOID:3664 mast cell neoplasm oboInOwl:hasDbXref ICD10CM:D47.09 semapv:UnspecifiedMatching DOID:3664 mast cell neoplasm oboInOwl:hasDbXref NCI:C9295 semapv:UnspecifiedMatching DOID:3664 mast cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0334664 semapv:UnspecifiedMatching -DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref GARD:12686 semapv:UnspecifiedMatching -DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching -DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref NCI:C3218 semapv:UnspecifiedMatching +DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref MESH:D034701 semapv:UnspecifiedMatching DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0024901 semapv:UnspecifiedMatching -DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref UMLS_CUI:C0343115 semapv:UnspecifiedMatching -DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref NCI:C7138 semapv:UnspecifiedMatching +DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref GARD:12686 semapv:UnspecifiedMatching +DOID:3665 diffuse cutaneous mastocytosis oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref ICD10CM:D47.01 semapv:UnspecifiedMatching DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref MESH:D054705 semapv:UnspecifiedMatching -DOID:3669 intermittent claudication oboInOwl:hasDbXref ICD10CM:I73.9 semapv:UnspecifiedMatching +DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref NCI:C7138 semapv:UnspecifiedMatching +DOID:3666 solitary mastocytoma of the skin oboInOwl:hasDbXref UMLS_CUI:C0343115 semapv:UnspecifiedMatching DOID:3669 intermittent claudication oboInOwl:hasDbXref MESH:D007383 semapv:UnspecifiedMatching DOID:3669 intermittent claudication oboInOwl:hasDbXref UMLS_CUI:C0021775 semapv:UnspecifiedMatching +DOID:3669 intermittent claudication oboInOwl:hasDbXref ICD10CM:I73.9 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref ICD10CM:G52.0 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref ICD9CM:352.0 semapv:UnspecifiedMatching DOID:367 olfactory nerve disease oboInOwl:hasDbXref MESH:D020431 semapv:UnspecifiedMatching @@ -23347,9 +23372,9 @@ DOID:367 olfactory nerve disease oboInOwl:hasDbXref NCI:C27210 semapv:Unspecifie DOID:367 olfactory nerve disease oboInOwl:hasDbXref UMLS_CUI:C0751937 semapv:UnspecifiedMatching DOID:3671 pericoronitis oboInOwl:hasDbXref MESH:D010497 semapv:UnspecifiedMatching DOID:3671 pericoronitis oboInOwl:hasDbXref UMLS_CUI:C0031055 semapv:UnspecifiedMatching -DOID:3672 rhabdoid cancer skos:exactMatch MESH:D018335 semapv:UnspecifiedMatching -DOID:3672 rhabdoid cancer oboInOwl:hasDbXref NCI:C3808 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer oboInOwl:hasDbXref UMLS_CUI:C0206743 semapv:UnspecifiedMatching +DOID:3672 rhabdoid cancer oboInOwl:hasDbXref NCI:C3808 semapv:UnspecifiedMatching +DOID:3672 rhabdoid cancer skos:exactMatch MESH:D018335 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer oboInOwl:hasDbXref GARD:7572 semapv:UnspecifiedMatching DOID:3672 rhabdoid cancer oboInOwl:hasDbXref MESH:D018335 semapv:UnspecifiedMatching DOID:3674 kidney rhabdoid cancer oboInOwl:hasDbXref NCI:C8715 semapv:UnspecifiedMatching @@ -23358,47 +23383,47 @@ DOID:3675 childhood kidney cancer oboInOwl:hasDbXref NCI:C6563 semapv:Unspecifie DOID:3675 childhood kidney cancer oboInOwl:hasDbXref UMLS_CUI:C1333003 semapv:UnspecifiedMatching DOID:3677 pulmonary plasma cell granuloma oboInOwl:hasDbXref MESH:D016726 semapv:UnspecifiedMatching DOID:3677 pulmonary plasma cell granuloma oboInOwl:hasDbXref UMLS_CUI:C0085269 semapv:UnspecifiedMatching -DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS_CUI:C1263885 semapv:UnspecifiedMatching -DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS_CUI:C0153642 semapv:UnspecifiedMatching DOID:368 cerebrum cancer oboInOwl:hasDbXref ICD9CM:191.8 semapv:UnspecifiedMatching DOID:368 cerebrum cancer oboInOwl:hasDbXref NCI:C4874 semapv:UnspecifiedMatching -DOID:3683 lung benign neoplasm oboInOwl:hasDbXref MESH:D008175 semapv:UnspecifiedMatching -DOID:3683 lung benign neoplasm oboInOwl:hasDbXref NCI:C3200 semapv:UnspecifiedMatching +DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS_CUI:C0153642 semapv:UnspecifiedMatching +DOID:368 cerebrum cancer oboInOwl:hasDbXref UMLS_CUI:C1263885 semapv:UnspecifiedMatching DOID:3683 lung benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0024121 semapv:UnspecifiedMatching -DOID:3687 MELAS syndrome oboInOwl:hasDbXref UMLS_CUI:C0162671 semapv:UnspecifiedMatching -DOID:3687 MELAS syndrome oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching -DOID:3687 MELAS syndrome oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching +DOID:3683 lung benign neoplasm oboInOwl:hasDbXref NCI:C3200 semapv:UnspecifiedMatching +DOID:3683 lung benign neoplasm oboInOwl:hasDbXref MESH:D008175 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref ICD10CM:E88.41 semapv:UnspecifiedMatching +DOID:3687 MELAS syndrome oboInOwl:hasDbXref MESH:D017241 semapv:UnspecifiedMatching DOID:3687 MELAS syndrome oboInOwl:hasDbXref NCI:C84885 semapv:UnspecifiedMatching +DOID:3687 MELAS syndrome oboInOwl:hasDbXref OMIM:540000 semapv:UnspecifiedMatching +DOID:3687 MELAS syndrome oboInOwl:hasDbXref UMLS_CUI:C0162671 semapv:UnspecifiedMatching DOID:3688 plexopathy oboInOwl:hasDbXref NCI:C27744 semapv:UnspecifiedMatching DOID:3688 plexopathy oboInOwl:hasDbXref UMLS_CUI:C1335437 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref ICD10CM:G54.5 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref MESH:D020968 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref NCI:C84600 semapv:UnspecifiedMatching DOID:3689 brachial plexus neuritis oboInOwl:hasDbXref UMLS_CUI:C0221759 semapv:UnspecifiedMatching -DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref GARD:2197 semapv:UnspecifiedMatching -DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref ICDO:9522/3 semapv:UnspecifiedMatching -DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref MESH:D018304 semapv:UnspecifiedMatching DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref NCI:C3789 semapv:UnspecifiedMatching +DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref MESH:D018304 semapv:UnspecifiedMatching DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0206717 semapv:UnspecifiedMatching -DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref UMLS_CUI:C0700251 semapv:UnspecifiedMatching -DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref NCI:C27194 semapv:UnspecifiedMatching -DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref MESH:D020516 semapv:UnspecifiedMatching +DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref GARD:2197 semapv:UnspecifiedMatching +DOID:369 olfactory neuroblastoma oboInOwl:hasDbXref ICDO:9522/3 semapv:UnspecifiedMatching DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref ICD10CM:G54.0 semapv:UnspecifiedMatching +DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref MESH:D020516 semapv:UnspecifiedMatching +DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref NCI:C27194 semapv:UnspecifiedMatching +DOID:3690 brachial plexus neuropathy oboInOwl:hasDbXref UMLS_CUI:C0700251 semapv:UnspecifiedMatching DOID:3691 anal colloid adenocarcinoma oboInOwl:hasDbXref NCI:C5606 semapv:UnspecifiedMatching DOID:3691 anal colloid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332272 semapv:UnspecifiedMatching -DOID:3692 anal canal adenocarcinoma oboInOwl:hasDbXref NCI:C7471 semapv:UnspecifiedMatching DOID:3692 anal canal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332259 semapv:UnspecifiedMatching +DOID:3692 anal canal adenocarcinoma oboInOwl:hasDbXref NCI:C7471 semapv:UnspecifiedMatching DOID:3693 ampulla of Vater mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C27416 semapv:UnspecifiedMatching DOID:3693 ampulla of Vater mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332248 semapv:UnspecifiedMatching DOID:3696 acute sanguinous otitis media oboInOwl:hasDbXref ICD9CM:381.03 semapv:UnspecifiedMatching DOID:3696 acute sanguinous otitis media oboInOwl:hasDbXref UMLS_CUI:C0395865 semapv:UnspecifiedMatching -DOID:3697 acute transudative otitis media oboInOwl:hasDbXref ICD9CM:381.0 semapv:UnspecifiedMatching DOID:3697 acute transudative otitis media oboInOwl:hasDbXref UMLS_CUI:C0271432 semapv:UnspecifiedMatching -DOID:3698 bile duct mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C5846 semapv:UnspecifiedMatching +DOID:3697 acute transudative otitis media oboInOwl:hasDbXref ICD9CM:381.0 semapv:UnspecifiedMatching DOID:3698 bile duct mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0861856 semapv:UnspecifiedMatching -DOID:3699 uterine ligament mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557429 semapv:UnspecifiedMatching +DOID:3698 bile duct mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C5846 semapv:UnspecifiedMatching DOID:3699 uterine ligament mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40137 semapv:UnspecifiedMatching +DOID:3699 uterine ligament mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557429 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref ICD9CM:702 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref MESH:D012871 semapv:UnspecifiedMatching DOID:37 skin disease oboInOwl:hasDbXref MESH:D012873 semapv:UnspecifiedMatching @@ -23410,8 +23435,8 @@ DOID:37 skin disease oboInOwl:hasDbXref UMLS_CUI:C0037277 semapv:UnspecifiedMatc DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref ICD10CM:C72.2 semapv:UnspecifiedMatching DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref NCI:C4768 semapv:UnspecifiedMatching DOID:370 malignant olfactory nerve neoplasm oboInOwl:hasDbXref UMLS_CUI:C0496838 semapv:UnspecifiedMatching -DOID:3700 uterine ligament adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557428 semapv:UnspecifiedMatching DOID:3700 uterine ligament adenocarcinoma oboInOwl:hasDbXref NCI:C40135 semapv:UnspecifiedMatching +DOID:3700 uterine ligament adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557428 semapv:UnspecifiedMatching DOID:3701 cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332919 semapv:UnspecifiedMatching DOID:3701 cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C36095 semapv:UnspecifiedMatching DOID:3702 cervical adenocarcinoma oboInOwl:hasDbXref NCI:C4029 semapv:UnspecifiedMatching @@ -23426,8 +23451,8 @@ DOID:3706 fallopian tube adenocarcinoma oboInOwl:hasDbXref NCI:C6265 semapv:Unsp DOID:3706 fallopian tube adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333590 semapv:UnspecifiedMatching DOID:3707 endometrial mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40144 semapv:UnspecifiedMatching DOID:3707 endometrial mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519859 semapv:UnspecifiedMatching -DOID:3709 rectum mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279652 semapv:UnspecifiedMatching DOID:3709 rectum mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C7973 semapv:UnspecifiedMatching +DOID:3709 rectum mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279652 semapv:UnspecifiedMatching DOID:371 extracranial neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1333499 semapv:UnspecifiedMatching DOID:371 extracranial neuroblastoma oboInOwl:hasDbXref NCI:C5437 semapv:UnspecifiedMatching DOID:3710 bladder colloid adenocarcinoma oboInOwl:hasDbXref NCI:C39837 semapv:UnspecifiedMatching @@ -23436,33 +23461,33 @@ DOID:3711 bladder adenocarcinoma oboInOwl:hasDbXref NCI:C4032 semapv:Unspecified DOID:3711 bladder adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279682 semapv:UnspecifiedMatching DOID:3713 ovary adenocarcinoma oboInOwl:hasDbXref NCI:C7700 semapv:UnspecifiedMatching DOID:3713 ovary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0948216 semapv:UnspecifiedMatching -DOID:3716 mucinous stomach adenocarcinoma oboInOwl:hasDbXref NCI:C5248 semapv:UnspecifiedMatching DOID:3716 mucinous stomach adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334809 semapv:UnspecifiedMatching +DOID:3716 mucinous stomach adenocarcinoma oboInOwl:hasDbXref NCI:C5248 semapv:UnspecifiedMatching DOID:3717 gastric adenocarcinoma oboInOwl:hasDbXref NCI:C4004 semapv:UnspecifiedMatching DOID:3717 gastric adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0278701 semapv:UnspecifiedMatching DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref ICD10CM:C90.2 semapv:UnspecifiedMatching DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref NCI:C4002 semapv:UnspecifiedMatching DOID:3720 extramedullary plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0278619 semapv:UnspecifiedMatching -DOID:3721 plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0032131 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref NCI:C9349 semapv:UnspecifiedMatching +DOID:3721 plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0032131 semapv:UnspecifiedMatching +DOID:3721 plasmacytoma oboInOwl:hasDbXref MESH:D010954 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref ICD10CM:C90.3 semapv:UnspecifiedMatching DOID:3721 plasmacytoma oboInOwl:hasDbXref ICDO:9731/3 semapv:UnspecifiedMatching -DOID:3721 plasmacytoma oboInOwl:hasDbXref MESH:D010954 semapv:UnspecifiedMatching DOID:3722 solitary osseous plasmacytoma oboInOwl:hasDbXref NCI:C7812 semapv:UnspecifiedMatching DOID:3722 solitary osseous plasmacytoma oboInOwl:hasDbXref UMLS_CUI:C0272256 semapv:UnspecifiedMatching DOID:3723 solitary plasmacytoma of chest wall oboInOwl:hasDbXref NCI:C6711 semapv:UnspecifiedMatching DOID:3723 solitary plasmacytoma of chest wall oboInOwl:hasDbXref UMLS_CUI:C1332936 semapv:UnspecifiedMatching DOID:3728 acute allergic sanguinous otitis media oboInOwl:hasDbXref ICD9CM:381.06 semapv:UnspecifiedMatching DOID:3728 acute allergic sanguinous otitis media oboInOwl:hasDbXref UMLS_CUI:C0155420 semapv:UnspecifiedMatching -DOID:3733 theileriasis oboInOwl:hasDbXref UMLS_CUI:C0039753 semapv:UnspecifiedMatching DOID:3733 theileriasis oboInOwl:hasDbXref MESH:D013801 semapv:UnspecifiedMatching -DOID:3737 verrucous carcinoma oboInOwl:hasDbXref NCI:C3781 semapv:UnspecifiedMatching +DOID:3733 theileriasis oboInOwl:hasDbXref UMLS_CUI:C0039753 semapv:UnspecifiedMatching DOID:3737 verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206706 semapv:UnspecifiedMatching DOID:3737 verrucous carcinoma oboInOwl:hasDbXref ICDO:8051/3 semapv:UnspecifiedMatching DOID:3737 verrucous carcinoma oboInOwl:hasDbXref MESH:D018289 semapv:UnspecifiedMatching +DOID:3737 verrucous carcinoma oboInOwl:hasDbXref NCI:C3781 semapv:UnspecifiedMatching +DOID:374 nutrition disease oboInOwl:hasDbXref UMLS_CUI:C3714509 semapv:UnspecifiedMatching DOID:374 nutrition disease oboInOwl:hasDbXref MESH:D009748 semapv:UnspecifiedMatching DOID:374 nutrition disease oboInOwl:hasDbXref NCI:C26836 semapv:UnspecifiedMatching -DOID:374 nutrition disease oboInOwl:hasDbXref UMLS_CUI:C3714509 semapv:UnspecifiedMatching DOID:3740 vulva verrucous carcinoma oboInOwl:hasDbXref NCI:C6383 semapv:UnspecifiedMatching DOID:3740 vulva verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336983 semapv:UnspecifiedMatching DOID:3741 bladder verrucous squamous cell carcinoma oboInOwl:hasDbXref NCI:C39832 semapv:UnspecifiedMatching @@ -23473,24 +23498,24 @@ DOID:3743 cervical verrucous carcinoma oboInOwl:hasDbXref NCI:C40190 semapv:Unsp DOID:3743 cervical verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516435 semapv:UnspecifiedMatching DOID:3744 cervical squamous cell carcinoma oboInOwl:hasDbXref NCI:C4028 semapv:UnspecifiedMatching DOID:3744 cervical squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279671 semapv:UnspecifiedMatching -DOID:3747 esophagus verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333470 semapv:UnspecifiedMatching DOID:3747 esophagus verrucous carcinoma oboInOwl:hasDbXref NCI:C27420 semapv:UnspecifiedMatching -DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077277 semapv:UnspecifiedMatching +DOID:3747 esophagus verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333470 semapv:UnspecifiedMatching DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref NCI:C4024 semapv:UnspecifiedMatching +DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077277 semapv:UnspecifiedMatching DOID:3748 esophagus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279626 semapv:UnspecifiedMatching -DOID:3749 urethral verrucous carcinoma oboInOwl:hasDbXref NCI:C39874 semapv:UnspecifiedMatching DOID:3749 urethral verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519827 semapv:UnspecifiedMatching +DOID:3749 urethral verrucous carcinoma oboInOwl:hasDbXref NCI:C39874 semapv:UnspecifiedMatching DOID:3750 urethra squamous cell carcinoma oboInOwl:hasDbXref NCI:C6165 semapv:UnspecifiedMatching DOID:3750 urethra squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336890 semapv:UnspecifiedMatching DOID:3751 plantar verrucous skin carcinoma oboInOwl:hasDbXref NCI:C6811 semapv:UnspecifiedMatching DOID:3751 plantar verrucous skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349657 semapv:UnspecifiedMatching DOID:3752 larynx verrucous carcinoma oboInOwl:hasDbXref NCI:C8188 semapv:UnspecifiedMatching DOID:3752 larynx verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280328 semapv:UnspecifiedMatching -DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS_CUI:C0079504 semapv:UnspecifiedMatching +DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:79430 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:280663 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:231537 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:231531 semapv:UnspecifiedMatching -DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ORDO:79430 semapv:UnspecifiedMatching +DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref UMLS_CUI:C0079504 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref NCI:C37261 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref MESH:D022861 semapv:UnspecifiedMatching DOID:3753 Hermansky-Pudlak syndrome oboInOwl:hasDbXref ICD10CM:E70.331 semapv:UnspecifiedMatching @@ -23501,52 +23526,52 @@ DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref MESH:D020152 semapv:Uns DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref NCI:C98815 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref OMIM:613118 semapv:UnspecifiedMatching DOID:3755 antithrombin III deficiency oboInOwl:hasDbXref UMLS_CUI:C0272375 semapv:UnspecifiedMatching +DOID:3756 protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C0398625 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref ORDO:745 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref NCI:C99025 semapv:UnspecifiedMatching -DOID:3756 protein C deficiency oboInOwl:hasDbXref UMLS_CUI:C0398625 semapv:UnspecifiedMatching -DOID:3756 protein C deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref GARD:4521 semapv:UnspecifiedMatching +DOID:3756 protein C deficiency oboInOwl:hasDbXref ICD10CM:D68.59 semapv:UnspecifiedMatching DOID:3756 protein C deficiency oboInOwl:hasDbXref MESH:D020151 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref MESH:D030401 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref NCI:C98910 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref OMIM:220110 semapv:UnspecifiedMatching DOID:3762 cytochrome-c oxidase deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0268237 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0019269 semapv:UnspecifiedMatching -DOID:3763 hermaphroditism oboInOwl:hasDbXref NCI:C45909 semapv:UnspecifiedMatching DOID:3763 hermaphroditism oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching +DOID:3763 hermaphroditism oboInOwl:hasDbXref NCI:C45909 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref GARD:5576 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref MESH:D030321 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref NCI:C84668 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref OMIM:194080 semapv:UnspecifiedMatching DOID:3764 Denys-Drash syndrome oboInOwl:hasDbXref UMLS_CUI:C0950121 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0033804 semapv:UnspecifiedMatching -DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0021193 semapv:UnspecifiedMatching -DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching -DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref NCI:C124575 semapv:UnspecifiedMatching +DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56.3 semapv:UnspecifiedMatching DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD9CM:752.7 semapv:UnspecifiedMatching -DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref ICD10CM:Q56 semapv:UnspecifiedMatching -DOID:3766 leukorrhea oboInOwl:hasDbXref ICD10CM:N89.8 semapv:UnspecifiedMatching -DOID:3766 leukorrhea oboInOwl:hasDbXref MESH:D007973 semapv:UnspecifiedMatching -DOID:3766 leukorrhea oboInOwl:hasDbXref NCI:C34775 semapv:UnspecifiedMatching +DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching +DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref NCI:C124575 semapv:UnspecifiedMatching +DOID:3765 pseudohermaphroditism oboInOwl:hasDbXref UMLS_CUI:C0021193 semapv:UnspecifiedMatching DOID:3766 leukorrhea oboInOwl:hasDbXref UMLS_CUI:C0023533 semapv:UnspecifiedMatching +DOID:3766 leukorrhea oboInOwl:hasDbXref NCI:C34775 semapv:UnspecifiedMatching +DOID:3766 leukorrhea oboInOwl:hasDbXref MESH:D007973 semapv:UnspecifiedMatching +DOID:3766 leukorrhea oboInOwl:hasDbXref ICD10CM:N89.8 semapv:UnspecifiedMatching DOID:3767 vaginal discharge oboInOwl:hasDbXref MESH:D019522 semapv:UnspecifiedMatching DOID:3767 vaginal discharge oboInOwl:hasDbXref UMLS_CUI:C0227791 semapv:UnspecifiedMatching DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref MESH:D011658 semapv:UnspecifiedMatching DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref NCI:C26869 semapv:UnspecifiedMatching DOID:3770 pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0034069 semapv:UnspecifiedMatching +DOID:3772 intraventricular meningioma oboInOwl:hasDbXref UMLS_CUI:C1334271 semapv:UnspecifiedMatching DOID:3772 intraventricular meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:3772 intraventricular meningioma oboInOwl:hasDbXref NCI:C5273 semapv:UnspecifiedMatching -DOID:3772 intraventricular meningioma oboInOwl:hasDbXref UMLS_CUI:C1334271 semapv:UnspecifiedMatching -DOID:3774 chordoid glioma oboInOwl:hasDbXref UMLS_CUI:C1322252 semapv:UnspecifiedMatching -DOID:3774 chordoid glioma oboInOwl:hasDbXref ORDO:251674 semapv:UnspecifiedMatching DOID:3774 chordoid glioma oboInOwl:hasDbXref NCI:C5592 semapv:UnspecifiedMatching +DOID:3774 chordoid glioma oboInOwl:hasDbXref ORDO:251674 semapv:UnspecifiedMatching DOID:3774 chordoid glioma oboInOwl:hasDbXref ICDO:9444/1 semapv:UnspecifiedMatching -DOID:3777 granuloma annulare oboInOwl:hasDbXref GARD:6546 semapv:UnspecifiedMatching +DOID:3774 chordoid glioma oboInOwl:hasDbXref UMLS_CUI:C1322252 semapv:UnspecifiedMatching DOID:3777 granuloma annulare oboInOwl:hasDbXref ICD10CM:L92.0 semapv:UnspecifiedMatching -DOID:3777 granuloma annulare oboInOwl:hasDbXref MESH:D016460 semapv:UnspecifiedMatching -DOID:3777 granuloma annulare oboInOwl:hasDbXref NCI:C3470 semapv:UnspecifiedMatching DOID:3777 granuloma annulare oboInOwl:hasDbXref UMLS_CUI:C0085074 semapv:UnspecifiedMatching +DOID:3777 granuloma annulare oboInOwl:hasDbXref NCI:C3470 semapv:UnspecifiedMatching +DOID:3777 granuloma annulare oboInOwl:hasDbXref GARD:6546 semapv:UnspecifiedMatching +DOID:3777 granuloma annulare oboInOwl:hasDbXref MESH:D016460 semapv:UnspecifiedMatching DOID:3781 anovulation oboInOwl:hasDbXref MESH:D000858 semapv:UnspecifiedMatching DOID:3781 anovulation oboInOwl:hasDbXref NCI:C34388 semapv:UnspecifiedMatching DOID:3781 anovulation oboInOwl:hasDbXref UMLS_CUI:C0003128 semapv:UnspecifiedMatching @@ -23557,8 +23582,8 @@ DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref OMIM:303600 semapv:Unspecifie DOID:3783 Coffin-Lowry syndrome oboInOwl:hasDbXref UMLS_CUI:C0265252 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref UMLS_CUI:C0155388 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref NCI:C26972 semapv:UnspecifiedMatching -DOID:379 external ear disease oboInOwl:hasDbXref ICD10CM:H61.9 semapv:UnspecifiedMatching DOID:379 external ear disease oboInOwl:hasDbXref ICD9CM:380 semapv:UnspecifiedMatching +DOID:379 external ear disease oboInOwl:hasDbXref ICD10CM:H61.9 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref ICD10CM:J86 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref MESH:D016724 semapv:UnspecifiedMatching DOID:3798 pleural empyema oboInOwl:hasDbXref NCI:C45692 semapv:UnspecifiedMatching @@ -23573,65 +23598,65 @@ DOID:3805 porokeratosis oboInOwl:hasDbXref UMLS_CUI:C0162839 semapv:UnspecifiedM DOID:3805 porokeratosis oboInOwl:hasDbXref NCI:C85019 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref OMIM:175800 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref ICD9CM:692.75 semapv:UnspecifiedMatching +DOID:3805 porokeratosis oboInOwl:hasDbXref MESH:D017499 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref ICD10CM:L56.5 semapv:UnspecifiedMatching DOID:3805 porokeratosis oboInOwl:hasDbXref GARD:10983 semapv:UnspecifiedMatching -DOID:3805 porokeratosis oboInOwl:hasDbXref MESH:D017499 semapv:UnspecifiedMatching DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref NCI:C5310 semapv:UnspecifiedMatching DOID:3809 epidural spinal canal meningioma oboInOwl:hasDbXref UMLS_CUI:C1333417 semapv:UnspecifiedMatching -DOID:381 arthropathy oboInOwl:hasDbXref UMLS_CUI:C0157749 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref UMLS_CUI:C0022408 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref NCI:C78402 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref NCI:C35760 semapv:UnspecifiedMatching +DOID:381 arthropathy oboInOwl:hasDbXref MESH:D007592 semapv:UnspecifiedMatching +DOID:381 arthropathy oboInOwl:hasDbXref UMLS_CUI:C0157749 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD9CM:711 semapv:UnspecifiedMatching -DOID:381 arthropathy oboInOwl:hasDbXref ICD9CM:719.90 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD10CM:M12.9 semapv:UnspecifiedMatching DOID:381 arthropathy oboInOwl:hasDbXref ICD10CM:M00-M02 semapv:UnspecifiedMatching -DOID:381 arthropathy oboInOwl:hasDbXref MESH:D007592 semapv:UnspecifiedMatching +DOID:381 arthropathy oboInOwl:hasDbXref ICD9CM:719.90 semapv:UnspecifiedMatching DOID:3813 central nervous system chondroma oboInOwl:hasDbXref NCI:C7001 semapv:UnspecifiedMatching DOID:3813 central nervous system chondroma oboInOwl:hasDbXref UMLS_CUI:C1333019 semapv:UnspecifiedMatching DOID:3814 soft tissue chondroma oboInOwl:hasDbXref NCI:C9482 semapv:UnspecifiedMatching DOID:3816 glossopharyngeal nerve paralysis oboInOwl:hasDbXref NCI:C27335 semapv:UnspecifiedMatching DOID:3816 glossopharyngeal nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C5231192 semapv:UnspecifiedMatching +DOID:3817 cranial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0151311 semapv:UnspecifiedMatching DOID:3817 cranial nerve palsy oboInOwl:hasDbXref MESH:D003389 semapv:UnspecifiedMatching DOID:3817 cranial nerve palsy oboInOwl:hasDbXref NCI:C26941 semapv:UnspecifiedMatching -DOID:3817 cranial nerve palsy oboInOwl:hasDbXref UMLS_CUI:C0151311 semapv:UnspecifiedMatching DOID:3818 photoallergic dermatitis oboInOwl:hasDbXref MESH:D017454 semapv:UnspecifiedMatching DOID:3818 photoallergic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162824 semapv:UnspecifiedMatching DOID:3819 toxicodendron dermatitis oboInOwl:hasDbXref MESH:D011040 semapv:UnspecifiedMatching DOID:3819 toxicodendron dermatitis oboInOwl:hasDbXref UMLS_CUI:C0032342 semapv:UnspecifiedMatching -DOID:3821 posterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020762 semapv:UnspecifiedMatching DOID:3821 posterior cerebral artery infarction oboInOwl:hasDbXref UMLS_CUI:C0752132 semapv:UnspecifiedMatching +DOID:3821 posterior cerebral artery infarction oboInOwl:hasDbXref MESH:D020762 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref UMLS_CUI:C0037018 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon skos:exactMatch MESH:D012790 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref GARD:7636 semapv:UnspecifiedMatching DOID:3825 Shwartzman phenomenon oboInOwl:hasDbXref MESH:D012790 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref GARD:1481 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10CM:K44 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref MESH:D006548 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref NCI:C34687 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ORDO:2140 semapv:UnspecifiedMatching -DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS_CUI:C0019284 semapv:UnspecifiedMatching DOID:3827 congenital diaphragmatic hernia skos:exactMatch ICD10CM:Q79.0 semapv:UnspecifiedMatching -DOID:3828 chromophobe adenoma oboInOwl:hasDbXref NCI:C2857 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref UMLS_CUI:C0019284 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:610187 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:222400 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref NCI:C34687 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref GARD:1481 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref OMIM:142340 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref MESH:D006548 semapv:UnspecifiedMatching +DOID:3827 congenital diaphragmatic hernia oboInOwl:hasDbXref ICD10CM:K44 semapv:UnspecifiedMatching DOID:3828 chromophobe adenoma oboInOwl:hasDbXref ICDO:8270/0 semapv:UnspecifiedMatching DOID:3828 chromophobe adenoma oboInOwl:hasDbXref MESH:D000238 semapv:UnspecifiedMatching +DOID:3828 chromophobe adenoma oboInOwl:hasDbXref NCI:C2857 semapv:UnspecifiedMatching DOID:3828 chromophobe adenoma oboInOwl:hasDbXref UMLS_CUI:C0001432 semapv:UnspecifiedMatching -DOID:3829 pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0032000 semapv:UnspecifiedMatching -DOID:3829 pituitary adenoma oboInOwl:hasDbXref OMIMPS:102200 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref ICDO:8272/0 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching DOID:3829 pituitary adenoma oboInOwl:hasDbXref NCI:C3329 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref GARD:7897 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10CM:I45.6 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD9CM:426.7 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref MESH:D014927 semapv:UnspecifiedMatching +DOID:3829 pituitary adenoma oboInOwl:hasDbXref OMIMPS:102200 semapv:UnspecifiedMatching +DOID:3829 pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0032000 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS_CUI:C0392470 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS_CUI:C0043202 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref NCI:C35132 semapv:UnspecifiedMatching DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref OMIM:194200 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS_CUI:C0043202 semapv:UnspecifiedMatching -DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref UMLS_CUI:C0392470 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD9CM:426.7 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref MESH:D014927 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10CM:I45.6 semapv:UnspecifiedMatching +DOID:384 Wolff-Parkinson-White syndrome oboInOwl:hasDbXref GARD:7897 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref NCI:C2964 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching DOID:3840 craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0010276 semapv:UnspecifiedMatching @@ -23640,119 +23665,119 @@ DOID:3840 craniopharyngioma oboInOwl:hasDbXref ICDO:9350/1 semapv:UnspecifiedMat DOID:3842 skull base cancer oboInOwl:hasDbXref MESH:D019292 semapv:UnspecifiedMatching DOID:3842 skull base cancer oboInOwl:hasDbXref NCI:C4676 semapv:UnspecifiedMatching DOID:3842 skull base cancer oboInOwl:hasDbXref UMLS_CUI:C0376527 semapv:UnspecifiedMatching -DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333286 semapv:UnspecifiedMatching -DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334576 semapv:UnspecifiedMatching DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref NCI:C5125 semapv:UnspecifiedMatching DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref NCI:C5126 semapv:UnspecifiedMatching +DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333286 semapv:UnspecifiedMatching +DOID:3843 diencephalic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334576 semapv:UnspecifiedMatching +DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0431129 semapv:UnspecifiedMatching +DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref NCI:C4726 semapv:UnspecifiedMatching DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref ICDO:9351/1 semapv:UnspecifiedMatching DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching -DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref NCI:C4726 semapv:UnspecifiedMatching -DOID:3846 adamantinous craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0431129 semapv:UnspecifiedMatching -DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref NCI:C4725 semapv:UnspecifiedMatching DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref ICDO:9352/1 semapv:UnspecifiedMatching DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref MESH:D003397 semapv:UnspecifiedMatching +DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref NCI:C4725 semapv:UnspecifiedMatching DOID:3847 papillary craniopharyngioma oboInOwl:hasDbXref UMLS_CUI:C0431128 semapv:UnspecifiedMatching -DOID:3850 hemangiopericytic tumor oboInOwl:hasDbXref UMLS_CUI:C0476144 semapv:UnspecifiedMatching DOID:3850 hemangiopericytic tumor oboInOwl:hasDbXref NCI:C7076 semapv:UnspecifiedMatching +DOID:3850 hemangiopericytic tumor oboInOwl:hasDbXref UMLS_CUI:C0476144 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref ORDO:2869 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref GARD:7378 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10CM:Q85.89 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C3324 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C4733 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0456487 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0265323 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0031269 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C7755 semapv:UnspecifiedMatching DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref OMIM:175200 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0031269 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0265323 semapv:UnspecifiedMatching -DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref UMLS_CUI:C0456487 semapv:UnspecifiedMatching -DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref UMLS_CUI:C0341767 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C3324 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref MESH:D010580 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref ICD10CM:Q85.89 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref GARD:7378 semapv:UnspecifiedMatching +DOID:3852 Peutz-Jeghers syndrome oboInOwl:hasDbXref NCI:C4733 semapv:UnspecifiedMatching DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref NCI:C39908 semapv:UnspecifiedMatching -DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0153606 semapv:UnspecifiedMatching +DOID:3855 seminal vesicle tumor oboInOwl:hasDbXref UMLS_CUI:C0341767 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0017417 semapv:UnspecifiedMatching -DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref NCI:C8561 semapv:UnspecifiedMatching +DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C63.9 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref ICD9CM:187.9 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref MESH:D005834 semapv:UnspecifiedMatching -DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref ICD10CM:C63.9 semapv:UnspecifiedMatching DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref NCI:C3054 semapv:UnspecifiedMatching -DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref ICDO:9474/3 semapv:UnspecifiedMatching -DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref NCI:C6904 semapv:UnspecifiedMatching -DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref ORDO:251855 semapv:UnspecifiedMatching +DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref NCI:C8561 semapv:UnspecifiedMatching +DOID:3856 male reproductive organ cancer oboInOwl:hasDbXref UMLS_CUI:C0153606 semapv:UnspecifiedMatching DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1266180 semapv:UnspecifiedMatching -DOID:3860 cerebellar vermis medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1332903 semapv:UnspecifiedMatching +DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref ORDO:251855 semapv:UnspecifiedMatching +DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref NCI:C6904 semapv:UnspecifiedMatching +DOID:3857 large cell medulloblastoma oboInOwl:hasDbXref ICDO:9474/3 semapv:UnspecifiedMatching DOID:3860 cerebellar vermis medulloblastoma oboInOwl:hasDbXref NCI:C5401 semapv:UnspecifiedMatching -DOID:3861 medullomyoblastoma oboInOwl:hasDbXref NCI:C3706 semapv:UnspecifiedMatching -DOID:3861 medullomyoblastoma oboInOwl:hasDbXref UMLS_CUI:C0205833 semapv:UnspecifiedMatching +DOID:3860 cerebellar vermis medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1332903 semapv:UnspecifiedMatching DOID:3861 medullomyoblastoma oboInOwl:hasDbXref ICDO:9472/3 semapv:UnspecifiedMatching DOID:3861 medullomyoblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching -DOID:3864 adult medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0278876 semapv:UnspecifiedMatching +DOID:3861 medullomyoblastoma oboInOwl:hasDbXref NCI:C3706 semapv:UnspecifiedMatching +DOID:3861 medullomyoblastoma oboInOwl:hasDbXref UMLS_CUI:C0205833 semapv:UnspecifiedMatching DOID:3864 adult medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3864 adult medulloblastoma oboInOwl:hasDbXref NCI:C4011 semapv:UnspecifiedMatching +DOID:3864 adult medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0278876 semapv:UnspecifiedMatching DOID:3865 adult central nervous system embryonal tumor oboInOwl:hasDbXref NCI:C5411 semapv:UnspecifiedMatching DOID:3865 adult central nervous system embryonal tumor oboInOwl:hasDbXref UMLS_CUI:C1332196 semapv:UnspecifiedMatching -DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref NCI:C9497 semapv:UnspecifiedMatching DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1275668 semapv:UnspecifiedMatching +DOID:3868 melanotic medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref MESH:D008527 semapv:UnspecifiedMatching DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref NCI:C3997 semapv:UnspecifiedMatching DOID:3869 childhood medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C0278510 semapv:UnspecifiedMatching DOID:3870 childhood central nervous system embryonal tumor oboInOwl:hasDbXref NCI:C5961 semapv:UnspecifiedMatching DOID:3870 childhood central nervous system embryonal tumor oboInOwl:hasDbXref UMLS_CUI:C1332957 semapv:UnspecifiedMatching -DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1334970 semapv:UnspecifiedMatching DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref ICDO:9471/3 semapv:UnspecifiedMatching DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref NCI:C5407 semapv:UnspecifiedMatching +DOID:3873 desmoplastic/nodular medulloblastoma oboInOwl:hasDbXref UMLS_CUI:C1334970 semapv:UnspecifiedMatching +DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0040046 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref ICD10CM:I80.0 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref ICD9CM:451.0 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref MESH:D013924 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref NCI:C3410 semapv:UnspecifiedMatching -DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0040046 semapv:UnspecifiedMatching DOID:3875 thrombophlebitis oboInOwl:hasDbXref UMLS_CUI:C0265057 semapv:UnspecifiedMatching -DOID:3876 colonic pseudo-obstruction oboInOwl:hasDbXref MESH:D003112 semapv:UnspecifiedMatching DOID:3876 colonic pseudo-obstruction oboInOwl:hasDbXref UMLS_CUI:C0009377 semapv:UnspecifiedMatching +DOID:3876 colonic pseudo-obstruction oboInOwl:hasDbXref MESH:D003112 semapv:UnspecifiedMatching DOID:3877 functional colonic disease oboInOwl:hasDbXref MESH:D003109 semapv:UnspecifiedMatching DOID:3877 functional colonic disease oboInOwl:hasDbXref UMLS_CUI:C0009374 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS_CUI:C1333990 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref ORDO:144 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref OMIMPS:120435 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS_CUI:C0009405 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref GARD:9905 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref NCI:C120083 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref OMIMPS:120435 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref ORDO:144 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS_CUI:C0009405 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS_CUI:C1333990 semapv:UnspecifiedMatching +DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref GARD:5732 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref NCI:C84536 semapv:UnspecifiedMatching -DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref OMIM:176000 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref UMLS_CUI:C0162565 semapv:UnspecifiedMatching -DOID:3891 placental insufficiency oboInOwl:hasDbXref MESH:D010927 semapv:UnspecifiedMatching DOID:3891 placental insufficiency oboInOwl:hasDbXref UMLS_CUI:C0032051 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref UMLS_CUI:C0022134 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref UMLS_CUI:C0021670 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref NCI:C65184 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref NCI:C95598 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref MESH:D007340 semapv:UnspecifiedMatching -DOID:3892 insulinoma oboInOwl:hasDbXref ICDO:8151/3 semapv:UnspecifiedMatching +DOID:3891 placental insufficiency oboInOwl:hasDbXref MESH:D010927 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref GARD:3010 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref ICDO:8151/3 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref MESH:D007340 semapv:UnspecifiedMatching DOID:3892 insulinoma oboInOwl:hasDbXref MESH:D007516 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref NCI:C65184 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref NCI:C95598 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref UMLS_CUI:C0021670 semapv:UnspecifiedMatching +DOID:3892 insulinoma oboInOwl:hasDbXref UMLS_CUI:C0022134 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref UMLS_CUI:C0206672 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref NCI:C3760 semapv:UnspecifiedMatching DOID:3893 hidrocystoma skos:exactMatch MESH:D018251 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref ICDO:8404/0 semapv:UnspecifiedMatching DOID:3893 hidrocystoma oboInOwl:hasDbXref MESH:D018251 semapv:UnspecifiedMatching +DOID:3895 apocrine adenoma oboInOwl:hasDbXref UMLS_CUI:C0334345 semapv:UnspecifiedMatching DOID:3895 apocrine adenoma oboInOwl:hasDbXref ICDO:8401/0 semapv:UnspecifiedMatching DOID:3895 apocrine adenoma oboInOwl:hasDbXref NCI:C4168 semapv:UnspecifiedMatching -DOID:3895 apocrine adenoma oboInOwl:hasDbXref UMLS_CUI:C0334345 semapv:UnspecifiedMatching -DOID:3896 hidradenoma oboInOwl:hasDbXref UMLS_CUI:C0019522 semapv:UnspecifiedMatching DOID:3896 hidradenoma oboInOwl:hasDbXref ICDO:8402/0 semapv:UnspecifiedMatching DOID:3896 hidradenoma oboInOwl:hasDbXref MESH:D006607 semapv:UnspecifiedMatching DOID:3896 hidradenoma oboInOwl:hasDbXref NCI:C7560 semapv:UnspecifiedMatching +DOID:3896 hidradenoma oboInOwl:hasDbXref UMLS_CUI:C0019522 semapv:UnspecifiedMatching +DOID:3901 vulvitis oboInOwl:hasDbXref ICD10CM:N76.2 semapv:UnspecifiedMatching DOID:3901 vulvitis oboInOwl:hasDbXref MESH:D014847 semapv:UnspecifiedMatching DOID:3901 vulvitis oboInOwl:hasDbXref UMLS_CUI:C0042996 semapv:UnspecifiedMatching -DOID:3901 vulvitis oboInOwl:hasDbXref ICD10CM:N76.2 semapv:UnspecifiedMatching -DOID:3904 bronchus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007121 semapv:UnspecifiedMatching -DOID:3904 bronchus carcinoma oboInOwl:hasDbXref NCI:C35875 semapv:UnspecifiedMatching DOID:3904 bronchus carcinoma oboInOwl:hasDbXref MESH:D002283 semapv:UnspecifiedMatching -DOID:3905 lung carcinoma oboInOwl:hasDbXref EFO:0001071 semapv:UnspecifiedMatching -DOID:3905 lung carcinoma oboInOwl:hasDbXref NCI:C4878 semapv:UnspecifiedMatching +DOID:3904 bronchus carcinoma oboInOwl:hasDbXref NCI:C35875 semapv:UnspecifiedMatching +DOID:3904 bronchus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007121 semapv:UnspecifiedMatching DOID:3905 lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C0684249 semapv:UnspecifiedMatching +DOID:3905 lung carcinoma oboInOwl:hasDbXref NCI:C4878 semapv:UnspecifiedMatching +DOID:3905 lung carcinoma oboInOwl:hasDbXref EFO:0001071 semapv:UnspecifiedMatching DOID:3906 bronchial benign neoplasm oboInOwl:hasDbXref MESH:D001984 semapv:UnspecifiedMatching DOID:3906 bronchial benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0006264 semapv:UnspecifiedMatching DOID:3907 lung squamous cell carcinoma oboInOwl:hasDbXref NCI:C3493 semapv:UnspecifiedMatching @@ -23762,13 +23787,13 @@ DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref KEGG:05223 semapv:Uns DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref MESH:D002289 semapv:UnspecifiedMatching DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref NCI:C2926 semapv:UnspecifiedMatching DOID:3908 lung non-small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007131 semapv:UnspecifiedMatching -DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335060 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0152013 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref NCI:C3512 semapv:UnspecifiedMatching -DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref MESH:D000077192 semapv:UnspecifiedMatching +DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref NCI:C27745 semapv:UnspecifiedMatching +DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335060 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref GARD:5742 semapv:UnspecifiedMatching DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref EFO:0000571 semapv:UnspecifiedMatching -DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref NCI:C27745 semapv:UnspecifiedMatching +DOID:3910 lung adenocarcinoma oboInOwl:hasDbXref MESH:D000077192 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref GARD:7467 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref ICD10CM:E34.8 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref MEDDRA:10036794 semapv:UnspecifiedMatching @@ -23777,12 +23802,12 @@ DOID:3911 progeria oboInOwl:hasDbXref NCI:C34951 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref OMIM:176670 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref ORDO:740 semapv:UnspecifiedMatching DOID:3911 progeria oboInOwl:hasDbXref UMLS_CUI:C0033300 semapv:UnspecifiedMatching -DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335316 semapv:UnspecifiedMatching DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref NCI:C5712 semapv:UnspecifiedMatching -DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0341486 semapv:UnspecifiedMatching +DOID:3917 pancreatic serous cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335316 semapv:UnspecifiedMatching DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref NCI:C4374 semapv:UnspecifiedMatching -DOID:3919 pancreatic serous cystic neoplasm oboInOwl:hasDbXref NCI:C41248 semapv:UnspecifiedMatching +DOID:3918 pancreatic cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0341486 semapv:UnspecifiedMatching DOID:3919 pancreatic serous cystic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518875 semapv:UnspecifiedMatching +DOID:3919 pancreatic serous cystic neoplasm oboInOwl:hasDbXref NCI:C41248 semapv:UnspecifiedMatching DOID:3923 diffuse lipomatosis oboInOwl:hasDbXref NCI:C6504 semapv:UnspecifiedMatching DOID:3923 diffuse lipomatosis oboInOwl:hasDbXref UMLS_CUI:C1333298 semapv:UnspecifiedMatching DOID:3924 main bronchus cancer oboInOwl:hasDbXref ICD10CM:C34.0 semapv:UnspecifiedMatching @@ -23792,50 +23817,50 @@ DOID:3925 steroid lipomatosis oboInOwl:hasDbXref NCI:C27487 semapv:UnspecifiedMa DOID:3925 steroid lipomatosis oboInOwl:hasDbXref UMLS_CUI:C1336506 semapv:UnspecifiedMatching DOID:3926 mediastinal lipomatosis oboInOwl:hasDbXref NCI:C27488 semapv:UnspecifiedMatching DOID:3926 mediastinal lipomatosis oboInOwl:hasDbXref UMLS_CUI:C1334662 semapv:UnspecifiedMatching -DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref NCI:C27486 semapv:UnspecifiedMatching -DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0406608 semapv:UnspecifiedMatching DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref GARD:7350 semapv:UnspecifiedMatching DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref MESH:C535549 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref GARD:5750 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref ICD10CM:E88.2 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref NCI:C84540 semapv:UnspecifiedMatching -DOID:3928 adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching +DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref NCI:C27486 semapv:UnspecifiedMatching +DOID:3927 pelvic lipomatosis oboInOwl:hasDbXref UMLS_CUI:C0406608 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa oboInOwl:hasDbXref UMLS_CUI:C0001529 semapv:UnspecifiedMatching DOID:3928 adiposis dolorosa skos:exactMatch MESH:D000274 semapv:UnspecifiedMatching +DOID:3928 adiposis dolorosa oboInOwl:hasDbXref OMIM:103200 semapv:UnspecifiedMatching +DOID:3928 adiposis dolorosa oboInOwl:hasDbXref NCI:C84540 semapv:UnspecifiedMatching +DOID:3928 adiposis dolorosa oboInOwl:hasDbXref MESH:D000274 semapv:UnspecifiedMatching +DOID:3928 adiposis dolorosa oboInOwl:hasDbXref ICD10CM:E88.2 semapv:UnspecifiedMatching +DOID:3928 adiposis dolorosa oboInOwl:hasDbXref GARD:5750 semapv:UnspecifiedMatching DOID:3930 otitis interna oboInOwl:hasDbXref UMLS_CUI:C1168225 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref ICD10CM:M76.81 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref MESH:D000868 semapv:UnspecifiedMatching DOID:3933 anterior compartment syndrome oboInOwl:hasDbXref UMLS_CUI:C0003152 semapv:UnspecifiedMatching -DOID:3939 obsolete lipomatous cancer oboInOwl:hasDbXref UMLS_CUI:C0346117 semapv:UnspecifiedMatching DOID:3939 obsolete lipomatous cancer oboInOwl:hasDbXref NCI:C4501 semapv:UnspecifiedMatching -DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref NCI:C113210 semapv:UnspecifiedMatching -DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref UMLS_CUI:C0221406 semapv:UnspecifiedMatching +DOID:3939 obsolete lipomatous cancer oboInOwl:hasDbXref UMLS_CUI:C0346117 semapv:UnspecifiedMatching DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref ICD10CM:E24.0 semapv:UnspecifiedMatching DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref MESH:D047748 semapv:UnspecifiedMatching -DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref MESH:D000308 semapv:UnspecifiedMatching +DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref NCI:C113210 semapv:UnspecifiedMatching +DOID:3946 pituitary-dependent Cushing's disease oboInOwl:hasDbXref UMLS_CUI:C0221406 semapv:UnspecifiedMatching DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref NCI:C113208 semapv:UnspecifiedMatching DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref UMLS_CUI:C0001622 semapv:UnspecifiedMatching +DOID:3947 adrenal gland hyperfunction oboInOwl:hasDbXref MESH:D000308 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref GARD:558 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref MESH:D018268 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref NCI:C9325 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref OMIM:202300 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206686 semapv:UnspecifiedMatching DOID:3948 adrenocortical carcinoma skos:exactMatch MESH:D018268 semapv:UnspecifiedMatching -DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD10CM:I40 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD9CM:422 semapv:UnspecifiedMatching +DOID:3951 acute myocarditis oboInOwl:hasDbXref ICD10CM:I40 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref NCI:C35206 semapv:UnspecifiedMatching DOID:3951 acute myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155686 semapv:UnspecifiedMatching -DOID:3952 adrenal cortex disease oboInOwl:hasDbXref UMLS_CUI:C0001614 semapv:UnspecifiedMatching DOID:3952 adrenal cortex disease oboInOwl:hasDbXref MESH:D000303 semapv:UnspecifiedMatching +DOID:3952 adrenal cortex disease oboInOwl:hasDbXref UMLS_CUI:C0001614 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0001624 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref NCI:C9338 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0750887 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref GARD:5751 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref ICD10CM:C74 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref NCI:C2859 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref ICD9CM:194.0 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref ICD10CM:C74 semapv:UnspecifiedMatching +DOID:3953 adrenal gland cancer oboInOwl:hasDbXref GARD:5751 semapv:UnspecifiedMatching DOID:3953 adrenal gland cancer oboInOwl:hasDbXref MESH:D000310 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref NCI:C2859 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref NCI:C9338 semapv:UnspecifiedMatching -DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0001624 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref ICD10CM:I42.3 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref NCI:C27044 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref UMLS_CUI:C0264834 semapv:UnspecifiedMatching @@ -23845,8 +23870,8 @@ DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref OMIM:188470 sema DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206682 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C0549473 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref NCI:C4815 semapv:UnspecifiedMatching -DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref EFO:0002892 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching +DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref EFO:0002892 semapv:UnspecifiedMatching DOID:3964 trabecular follicular adenocarcinoma oboInOwl:hasDbXref NCI:C46095 semapv:UnspecifiedMatching DOID:3964 trabecular follicular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334327 semapv:UnspecifiedMatching DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref GARD:9266 semapv:UnspecifiedMatching @@ -23856,33 +23881,33 @@ DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0302182 semapv:Unsp DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref MESH:D018265 semapv:UnspecifiedMatching DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref NCI:C7380 semapv:UnspecifiedMatching DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206683 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238463 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref NCI:C4035 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref GARD:12027 semapv:UnspecifiedMatching DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref MESH:D000077273 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.5 semapv:UnspecifiedMatching +DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238463 semapv:UnspecifiedMatching +DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIMPS:115210 semapv:UnspecifiedMatching +DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching +DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007196 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref NCI:C62798 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIMPS:115210 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ORDO:75249 semapv:UnspecifiedMatching -DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0007196 semapv:UnspecifiedMatching +DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.5 semapv:UnspecifiedMatching DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref NCI:C3879 semapv:UnspecifiedMatching DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238462 semapv:UnspecifiedMatching DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.8 semapv:UnspecifiedMatching DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0155699 semapv:UnspecifiedMatching +DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref GARD:6564 semapv:UnspecifiedMatching +DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching +DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 semapv:UnspecifiedMatching +DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref NCI:C8967 semapv:UnspecifiedMatching +DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ORDO:157850 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS_CUI:C0018523 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref NCI:C8967 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref MESH:D006211 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10CM:G23.0 semapv:UnspecifiedMatching -DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref GARD:6564 semapv:UnspecifiedMatching -DOID:3982 Meige syndrome oboInOwl:hasDbXref GARD:7008 semapv:UnspecifiedMatching -DOID:3982 Meige syndrome oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching DOID:3982 Meige syndrome oboInOwl:hasDbXref UMLS_CUI:C0025183 semapv:UnspecifiedMatching +DOID:3982 Meige syndrome oboInOwl:hasDbXref MESH:D008538 semapv:UnspecifiedMatching +DOID:3982 Meige syndrome oboInOwl:hasDbXref GARD:7008 semapv:UnspecifiedMatching DOID:3983 oesophagostomiasis oboInOwl:hasDbXref MESH:D009814 semapv:UnspecifiedMatching DOID:3983 oesophagostomiasis oboInOwl:hasDbXref UMLS_CUI:C0028887 semapv:UnspecifiedMatching DOID:3985 ostertagiasis oboInOwl:hasDbXref MESH:D010029 semapv:UnspecifiedMatching @@ -23891,13 +23916,13 @@ DOID:399 tuberculosis oboInOwl:hasDbXref GARD:7827 semapv:UnspecifiedMatching DOID:399 tuberculosis oboInOwl:hasDbXref MESH:D014375 semapv:UnspecifiedMatching DOID:399 tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041295 semapv:UnspecifiedMatching DOID:399 tuberculosis skos:exactMatch MESH:D014376 semapv:UnspecifiedMatching -DOID:3996 urinary system cancer oboInOwl:hasDbXref UMLS_CUI:C0348371 semapv:UnspecifiedMatching -DOID:3996 urinary system cancer oboInOwl:hasDbXref ICD9CM:189.9 semapv:UnspecifiedMatching DOID:3996 urinary system cancer oboInOwl:hasDbXref ICD10CM:C68.9 semapv:UnspecifiedMatching +DOID:3996 urinary system cancer oboInOwl:hasDbXref ICD9CM:189.9 semapv:UnspecifiedMatching +DOID:3996 urinary system cancer oboInOwl:hasDbXref UMLS_CUI:C0348371 semapv:UnspecifiedMatching DOID:3998 Bartholin's gland transitional cell carcinoma oboInOwl:hasDbXref NCI:C40297 semapv:UnspecifiedMatching DOID:3998 Bartholin's gland transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511053 semapv:UnspecifiedMatching -DOID:3999 Bartholin's gland carcinoma oboInOwl:hasDbXref NCI:C9055 semapv:UnspecifiedMatching DOID:3999 Bartholin's gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349561 semapv:UnspecifiedMatching +DOID:3999 Bartholin's gland carcinoma oboInOwl:hasDbXref NCI:C9055 semapv:UnspecifiedMatching DOID:4 disease oboInOwl:hasDbXref MESH:D004194 semapv:UnspecifiedMatching DOID:4 disease oboInOwl:hasDbXref NCI:C2991 semapv:UnspecifiedMatching DOID:4 disease oboInOwl:hasDbXref UMLS_CUI:C0012634 semapv:UnspecifiedMatching @@ -23908,13 +23933,13 @@ DOID:4001 ovarian carcinoma oboInOwl:hasDbXref UMLS_CUI:C0677886 semapv:Unspecif DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref ICDO:8121/3 semapv:UnspecifiedMatching DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref NCI:C54287 semapv:UnspecifiedMatching DOID:4003 Schneiderian carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334270 semapv:UnspecifiedMatching -DOID:4005 endometrial transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516864 semapv:UnspecifiedMatching DOID:4005 endometrial transitional cell carcinoma oboInOwl:hasDbXref NCI:C40154 semapv:UnspecifiedMatching -DOID:4006 bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39851 semapv:UnspecifiedMatching +DOID:4005 endometrial transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516864 semapv:UnspecifiedMatching DOID:4006 bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279680 semapv:UnspecifiedMatching +DOID:4006 bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39851 semapv:UnspecifiedMatching +DOID:4007 bladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699885 semapv:UnspecifiedMatching DOID:4007 bladder carcinoma oboInOwl:hasDbXref EFO:0000292 semapv:UnspecifiedMatching DOID:4007 bladder carcinoma oboInOwl:hasDbXref NCI:C4912 semapv:UnspecifiedMatching -DOID:4007 bladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699885 semapv:UnspecifiedMatching DOID:4008 fallopian tube transitional cell carcinoma oboInOwl:hasDbXref NCI:C40104 semapv:UnspecifiedMatching DOID:4008 fallopian tube transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517128 semapv:UnspecifiedMatching DOID:401 multidrug-resistant tuberculosis oboInOwl:hasDbXref MESH:D018088 semapv:UnspecifiedMatching @@ -23924,92 +23949,92 @@ DOID:4012 papillary transitional carcinoma oboInOwl:hasDbXref NCI:C4122 semapv:U DOID:4012 papillary transitional carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334274 semapv:UnspecifiedMatching DOID:4013 urethra transitional cell carcinoma oboInOwl:hasDbXref NCI:C6166 semapv:UnspecifiedMatching DOID:4013 urethra transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0863015 semapv:UnspecifiedMatching -DOID:4014 sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334271 semapv:UnspecifiedMatching DOID:4014 sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref NCI:C4120 semapv:UnspecifiedMatching -DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref MESH:D002277 semapv:UnspecifiedMatching +DOID:4014 sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334271 semapv:UnspecifiedMatching DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C27004 semapv:UnspecifiedMatching +DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref MESH:D002277 semapv:UnspecifiedMatching DOID:4015 sarcomatoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0205697 semapv:UnspecifiedMatching -DOID:402 oral tuberculosis oboInOwl:hasDbXref MESH:D014393 semapv:UnspecifiedMatching DOID:402 oral tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041323 semapv:UnspecifiedMatching +DOID:402 oral tuberculosis oboInOwl:hasDbXref MESH:D014393 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref MESH:D014518 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref NCI:C123159 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref OMIM:191650 semapv:UnspecifiedMatching DOID:4022 ureterocele oboInOwl:hasDbXref UMLS_CUI:C0041960 semapv:UnspecifiedMatching -DOID:4023 linitis plastica oboInOwl:hasDbXref ICDO:8142/3 semapv:UnspecifiedMatching -DOID:4023 linitis plastica oboInOwl:hasDbXref MESH:D008039 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref NCI:C3190 semapv:UnspecifiedMatching DOID:4023 linitis plastica oboInOwl:hasDbXref UMLS_CUI:C0023743 semapv:UnspecifiedMatching -DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007135 semapv:UnspecifiedMatching -DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref NCI:C2928 semapv:UnspecifiedMatching -DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref MESH:D002293 semapv:UnspecifiedMatching +DOID:4023 linitis plastica oboInOwl:hasDbXref ICDO:8142/3 semapv:UnspecifiedMatching +DOID:4023 linitis plastica oboInOwl:hasDbXref MESH:D008039 semapv:UnspecifiedMatching DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref ICDO:8141/3 semapv:UnspecifiedMatching +DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref MESH:D002293 semapv:UnspecifiedMatching +DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref NCI:C2928 semapv:UnspecifiedMatching +DOID:4024 scirrhous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007135 semapv:UnspecifiedMatching DOID:4025 obsolete steatitis oboInOwl:hasDbXref MESH:D013231 semapv:UnspecifiedMatching DOID:4025 obsolete steatitis oboInOwl:hasDbXref UMLS_CUI:C0038235 semapv:UnspecifiedMatching +DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ORDO:95429 semapv:UnspecifiedMatching +DOID:4028 angioma serpiginosum oboInOwl:hasDbXref UMLS_CUI:C0263637 semapv:UnspecifiedMatching +DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ICD10CM:L81.7 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref NCI:C3926 semapv:UnspecifiedMatching DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 semapv:UnspecifiedMatching -DOID:4028 angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching -DOID:4028 angioma serpiginosum oboInOwl:hasDbXref ORDO:95429 semapv:UnspecifiedMatching -DOID:4028 angioma serpiginosum oboInOwl:hasDbXref UMLS_CUI:C0263637 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref ICD10CM:K29.7 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref MESH:D005756 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref NCI:C26780 semapv:UnspecifiedMatching DOID:4029 gastritis oboInOwl:hasDbXref UMLS_CUI:C0017152 semapv:UnspecifiedMatching +DOID:403 mouth disease oboInOwl:hasDbXref MESH:D009059 semapv:UnspecifiedMatching DOID:403 mouth disease oboInOwl:hasDbXref NCI:C27641 semapv:UnspecifiedMatching DOID:403 mouth disease oboInOwl:hasDbXref UMLS_CUI:C0026636 semapv:UnspecifiedMatching -DOID:403 mouth disease oboInOwl:hasDbXref MESH:D009059 semapv:UnspecifiedMatching DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref ICD9CM:535.7 semapv:UnspecifiedMatching DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref NCI:C27052 semapv:UnspecifiedMatching DOID:4030 eosinophilic gastritis oboInOwl:hasDbXref UMLS_CUI:C0267154 semapv:UnspecifiedMatching +DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS_CUI:C1262481 semapv:UnspecifiedMatching DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref ICD9CM:558.41 semapv:UnspecifiedMatching DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref NCI:C35330 semapv:UnspecifiedMatching -DOID:4031 eosinophilic gastroenteritis oboInOwl:hasDbXref UMLS_CUI:C1262481 semapv:UnspecifiedMatching DOID:4033 bacterial gastritis oboInOwl:hasDbXref NCI:C27340 semapv:UnspecifiedMatching DOID:4033 bacterial gastritis oboInOwl:hasDbXref UMLS_CUI:C0948039 semapv:UnspecifiedMatching DOID:4034 fungal gastritis oboInOwl:hasDbXref NCI:C27342 semapv:UnspecifiedMatching DOID:4034 fungal gastritis oboInOwl:hasDbXref UMLS_CUI:C0948638 semapv:UnspecifiedMatching DOID:4035 lymphocytic gastritis oboInOwl:hasDbXref NCI:C27051 semapv:UnspecifiedMatching DOID:4035 lymphocytic gastritis oboInOwl:hasDbXref UMLS_CUI:C1283271 semapv:UnspecifiedMatching -DOID:4037 necrotizing gastritis oboInOwl:hasDbXref UMLS_CUI:C0877152 semapv:UnspecifiedMatching DOID:4037 necrotizing gastritis oboInOwl:hasDbXref NCI:C27329 semapv:UnspecifiedMatching -DOID:4038 granulomatous gastritis oboInOwl:hasDbXref UMLS_CUI:C1112577 semapv:UnspecifiedMatching +DOID:4037 necrotizing gastritis oboInOwl:hasDbXref UMLS_CUI:C0877152 semapv:UnspecifiedMatching DOID:4038 granulomatous gastritis oboInOwl:hasDbXref ICD10CM:K29.6 semapv:UnspecifiedMatching DOID:4038 granulomatous gastritis oboInOwl:hasDbXref NCI:C27348 semapv:UnspecifiedMatching -DOID:404 gastrointestinal tuberculosis oboInOwl:hasDbXref MESH:D014385 semapv:UnspecifiedMatching +DOID:4038 granulomatous gastritis oboInOwl:hasDbXref UMLS_CUI:C1112577 semapv:UnspecifiedMatching DOID:404 gastrointestinal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041312 semapv:UnspecifiedMatching +DOID:404 gastrointestinal tuberculosis oboInOwl:hasDbXref MESH:D014385 semapv:UnspecifiedMatching DOID:4043 skeletal muscle cancer oboInOwl:hasDbXref NCI:C6516 semapv:UnspecifiedMatching DOID:4043 skeletal muscle cancer oboInOwl:hasDbXref UMLS_CUI:C1334619 semapv:UnspecifiedMatching DOID:4044 skeletal muscle neoplasm oboInOwl:hasDbXref NCI:C6514 semapv:UnspecifiedMatching DOID:4044 skeletal muscle neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335971 semapv:UnspecifiedMatching -DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS_CUI:C0027095 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref ICD10CM:C49 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref MESH:D009217 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref MESH:D019042 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref NCI:C4883 semapv:UnspecifiedMatching +DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS_CUI:C0027095 semapv:UnspecifiedMatching DOID:4045 muscle cancer oboInOwl:hasDbXref UMLS_CUI:C0684743 semapv:UnspecifiedMatching -DOID:4047 liver rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333975 semapv:UnspecifiedMatching DOID:4047 liver rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5834 semapv:UnspecifiedMatching +DOID:4047 liver rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333975 semapv:UnspecifiedMatching DOID:4048 central nervous system rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5464 semapv:UnspecifiedMatching DOID:4048 central nervous system rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332891 semapv:UnspecifiedMatching -DOID:4049 mediastinum rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6617 semapv:UnspecifiedMatching DOID:4049 mediastinum rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334677 semapv:UnspecifiedMatching -DOID:4050 mediastinum sarcoma oboInOwl:hasDbXref NCI:C6606 semapv:UnspecifiedMatching +DOID:4049 mediastinum rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6617 semapv:UnspecifiedMatching DOID:4050 mediastinum sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334678 semapv:UnspecifiedMatching +DOID:4050 mediastinum sarcoma oboInOwl:hasDbXref NCI:C6606 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref GARD:4701 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8920/3 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3749 semapv:UnspecifiedMatching +DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7958 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref OMIM:268220 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206655 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7958 semapv:UnspecifiedMatching DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279613 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref MESH:D018232 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8920/3 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref GARD:4701 semapv:UnspecifiedMatching -DOID:4051 alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C3749 semapv:UnspecifiedMatching -DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335687 semapv:UnspecifiedMatching DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5627 semapv:UnspecifiedMatching +DOID:4053 rectum rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335687 semapv:UnspecifiedMatching DOID:4054 prostate sarcoma oboInOwl:hasDbXref NCI:C7731 semapv:UnspecifiedMatching DOID:4054 prostate sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238393 semapv:UnspecifiedMatching -DOID:4055 ectomesenchymoma oboInOwl:hasDbXref ICDO:8921/3 semapv:UnspecifiedMatching DOID:4055 ectomesenchymoma oboInOwl:hasDbXref NCI:C4716 semapv:UnspecifiedMatching DOID:4055 ectomesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0431111 semapv:UnspecifiedMatching +DOID:4055 ectomesenchymoma oboInOwl:hasDbXref ICDO:8921/3 semapv:UnspecifiedMatching DOID:4057 gallbladder rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5839 semapv:UnspecifiedMatching DOID:4057 gallbladder rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333756 semapv:UnspecifiedMatching DOID:4058 gallbladder sarcoma oboInOwl:hasDbXref NCI:C5736 semapv:UnspecifiedMatching @@ -24018,14 +24043,14 @@ DOID:4059 ovary rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5236 semapv:Unspecified DOID:4059 ovary rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335176 semapv:UnspecifiedMatching DOID:4060 breast rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5190 semapv:UnspecifiedMatching DOID:4060 breast rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332637 semapv:UnspecifiedMatching -DOID:4061 testis rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336726 semapv:UnspecifiedMatching DOID:4061 testis rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6378 semapv:UnspecifiedMatching +DOID:4061 testis rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336726 semapv:UnspecifiedMatching DOID:4062 testis sarcoma oboInOwl:hasDbXref NCI:C6359 semapv:UnspecifiedMatching DOID:4062 testis sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336727 semapv:UnspecifiedMatching DOID:4064 bile duct sarcoma oboInOwl:hasDbXref NCI:C5029 semapv:UnspecifiedMatching DOID:4064 bile duct sarcoma oboInOwl:hasDbXref UMLS_CUI:C2205442 semapv:UnspecifiedMatching -DOID:4065 mixed type rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8902/3 semapv:UnspecifiedMatching DOID:4065 mixed type rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334481 semapv:UnspecifiedMatching +DOID:4065 mixed type rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8902/3 semapv:UnspecifiedMatching DOID:4066 anus rhabdomyosarcoma oboInOwl:hasDbXref NCI:C5610 semapv:UnspecifiedMatching DOID:4066 anus rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332276 semapv:UnspecifiedMatching DOID:4067 anus sarcoma oboInOwl:hasDbXref NCI:C5611 semapv:UnspecifiedMatching @@ -24034,99 +24059,99 @@ DOID:407 hepatic tuberculosis oboInOwl:hasDbXref MESH:D014386 semapv:Unspecified DOID:407 hepatic tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041313 semapv:UnspecifiedMatching DOID:4071 duodenogastric reflux oboInOwl:hasDbXref MESH:D004383 semapv:UnspecifiedMatching DOID:4071 duodenogastric reflux oboInOwl:hasDbXref UMLS_CUI:C0013299 semapv:UnspecifiedMatching -DOID:4072 duodenum disease oboInOwl:hasDbXref UMLS_CUI:C0013289 semapv:UnspecifiedMatching DOID:4072 duodenum disease oboInOwl:hasDbXref MESH:D004378 semapv:UnspecifiedMatching +DOID:4072 duodenum disease oboInOwl:hasDbXref UMLS_CUI:C0013289 semapv:UnspecifiedMatching DOID:4073 pancreatic cystadenocarcinoma oboInOwl:hasDbXref NCI:C3874 semapv:UnspecifiedMatching DOID:4073 pancreatic cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0238337 semapv:UnspecifiedMatching -DOID:4074 pancreatic adenocarcinoma oboInOwl:hasDbXref NCI:C8294 semapv:UnspecifiedMatching DOID:4074 pancreatic adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0281361 semapv:UnspecifiedMatching +DOID:4074 pancreatic adenocarcinoma oboInOwl:hasDbXref NCI:C8294 semapv:UnspecifiedMatching +DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334286 semapv:UnspecifiedMatching DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref ICDO:8161/3 semapv:UnspecifiedMatching DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref NCI:C4130 semapv:UnspecifiedMatching -DOID:4075 bile duct cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334286 semapv:UnspecifiedMatching DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref MESH:D014264 semapv:UnspecifiedMatching DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref NCI:C50783 semapv:UnspecifiedMatching DOID:4078 tricuspid valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0040963 semapv:UnspecifiedMatching -DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS_CUI:C0079485 semapv:UnspecifiedMatching -DOID:4079 heart valve disease oboInOwl:hasDbXref NCI:C45525 semapv:UnspecifiedMatching -DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS_CUI:C0018824 semapv:UnspecifiedMatching DOID:4079 heart valve disease oboInOwl:hasDbXref MESH:D006349 semapv:UnspecifiedMatching DOID:4079 heart valve disease oboInOwl:hasDbXref MESH:D016127 semapv:UnspecifiedMatching -DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref MESH:D014262 semapv:UnspecifiedMatching +DOID:4079 heart valve disease oboInOwl:hasDbXref NCI:C45525 semapv:UnspecifiedMatching +DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS_CUI:C0018824 semapv:UnspecifiedMatching +DOID:4079 heart valve disease oboInOwl:hasDbXref UMLS_CUI:C0079485 semapv:UnspecifiedMatching DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref NCI:C50842 semapv:UnspecifiedMatching +DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref MESH:D014262 semapv:UnspecifiedMatching DOID:4080 tricuspid valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0040961 semapv:UnspecifiedMatching -DOID:4084 testicular trophoblastic tumor oboInOwl:hasDbXref NCI:C39934 semapv:UnspecifiedMatching DOID:4084 testicular trophoblastic tumor oboInOwl:hasDbXref UMLS_CUI:C1515301 semapv:UnspecifiedMatching -DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref MESH:D014328 semapv:UnspecifiedMatching +DOID:4084 testicular trophoblastic tumor oboInOwl:hasDbXref NCI:C39934 semapv:UnspecifiedMatching DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref NCI:C3422 semapv:UnspecifiedMatching DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041182 semapv:UnspecifiedMatching +DOID:4085 trophoblastic neoplasm oboInOwl:hasDbXref MESH:D014328 semapv:UnspecifiedMatching DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref ICDO:9065/3 semapv:UnspecifiedMatching DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref NCI:C9313 semapv:UnspecifiedMatching DOID:4086 testicular germ cell tumor non-seminomatous oboInOwl:hasDbXref UMLS_CUI:C1336724 semapv:UnspecifiedMatching DOID:4087 testicular pure germ cell tumor oboInOwl:hasDbXref NCI:C39915 semapv:UnspecifiedMatching DOID:4087 testicular pure germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1514608 semapv:UnspecifiedMatching -DOID:409 liver disease oboInOwl:hasDbXref UMLS_CUI:C0023895 semapv:UnspecifiedMatching +DOID:409 liver disease oboInOwl:hasDbXref ICD10CM:K76.9 semapv:UnspecifiedMatching +DOID:409 liver disease oboInOwl:hasDbXref ICD9CM:573.9 semapv:UnspecifiedMatching DOID:409 liver disease oboInOwl:hasDbXref MESH:D008107 semapv:UnspecifiedMatching DOID:409 liver disease oboInOwl:hasDbXref NCI:C3196 semapv:UnspecifiedMatching -DOID:409 liver disease oboInOwl:hasDbXref ICD9CM:573.9 semapv:UnspecifiedMatching -DOID:409 liver disease oboInOwl:hasDbXref ICD10CM:K76.9 semapv:UnspecifiedMatching -DOID:4090 agnosia oboInOwl:hasDbXref GARD:8 semapv:UnspecifiedMatching -DOID:4090 agnosia oboInOwl:hasDbXref ICD10CM:R48.1 semapv:UnspecifiedMatching -DOID:4090 agnosia oboInOwl:hasDbXref MESH:D000377 semapv:UnspecifiedMatching +DOID:409 liver disease oboInOwl:hasDbXref UMLS_CUI:C0023895 semapv:UnspecifiedMatching +DOID:4090 agnosia skos:exactMatch MESH:D000377 semapv:UnspecifiedMatching DOID:4090 agnosia oboInOwl:hasDbXref NCI:C84542 semapv:UnspecifiedMatching DOID:4090 agnosia oboInOwl:hasDbXref UMLS_CUI:C0001816 semapv:UnspecifiedMatching -DOID:4090 agnosia skos:exactMatch MESH:D000377 semapv:UnspecifiedMatching -DOID:4109 tick infestation oboInOwl:hasDbXref UMLS_CUI:C0040196 semapv:UnspecifiedMatching +DOID:4090 agnosia oboInOwl:hasDbXref ICD10CM:R48.1 semapv:UnspecifiedMatching +DOID:4090 agnosia oboInOwl:hasDbXref MESH:D000377 semapv:UnspecifiedMatching +DOID:4090 agnosia oboInOwl:hasDbXref GARD:8 semapv:UnspecifiedMatching DOID:4109 tick infestation oboInOwl:hasDbXref MESH:D013984 semapv:UnspecifiedMatching +DOID:4109 tick infestation oboInOwl:hasDbXref UMLS_CUI:C0040196 semapv:UnspecifiedMatching DOID:4110 parasitic ectoparasitic infectious disease oboInOwl:hasDbXref MESH:D004478 semapv:UnspecifiedMatching DOID:4110 parasitic ectoparasitic infectious disease oboInOwl:hasDbXref UMLS_CUI:C0013578 semapv:UnspecifiedMatching -DOID:4111 cervical adenosarcoma oboInOwl:hasDbXref NCI:C40229 semapv:UnspecifiedMatching DOID:4111 cervical adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1516426 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1518168 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1516420 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332917 semapv:UnspecifiedMatching -DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C40226 semapv:UnspecifiedMatching +DOID:4111 cervical adenosarcoma oboInOwl:hasDbXref NCI:C40229 semapv:UnspecifiedMatching DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C36097 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C40226 semapv:UnspecifiedMatching DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref NCI:C40228 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332917 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1516420 semapv:UnspecifiedMatching +DOID:4112 cervical carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1518168 semapv:UnspecifiedMatching DOID:4113 uterine corpus adenosarcoma oboInOwl:hasDbXref NCI:C6336 semapv:UnspecifiedMatching DOID:4113 uterine corpus adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336917 semapv:UnspecifiedMatching -DOID:4114 uterine body mixed cancer oboInOwl:hasDbXref NCI:C6311 semapv:UnspecifiedMatching DOID:4114 uterine body mixed cancer oboInOwl:hasDbXref UMLS_CUI:C1334628 semapv:UnspecifiedMatching +DOID:4114 uterine body mixed cancer oboInOwl:hasDbXref NCI:C6311 semapv:UnspecifiedMatching DOID:4115 ovarian mesodermal adenosarcoma oboInOwl:hasDbXref NCI:C7317 semapv:UnspecifiedMatching DOID:4115 ovarian mesodermal adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335169 semapv:UnspecifiedMatching DOID:4117 vaginal adenosarcoma oboInOwl:hasDbXref NCI:C40277 semapv:UnspecifiedMatching DOID:4117 vaginal adenosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519914 semapv:UnspecifiedMatching -DOID:4118 colon neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333097 semapv:UnspecifiedMatching DOID:4118 colon neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5697 semapv:UnspecifiedMatching -DOID:4119 intestinal neuroendocrine benign tumor oboInOwl:hasDbXref UMLS_CUI:C1334231 semapv:UnspecifiedMatching +DOID:4118 colon neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333097 semapv:UnspecifiedMatching DOID:4119 intestinal neuroendocrine benign tumor oboInOwl:hasDbXref NCI:C5695 semapv:UnspecifiedMatching +DOID:4119 intestinal neuroendocrine benign tumor oboInOwl:hasDbXref UMLS_CUI:C1334231 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref ICD10CM:L60 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref ICD9CM:703 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref MESH:D009260 semapv:UnspecifiedMatching DOID:4123 nail disease oboInOwl:hasDbXref UMLS_CUI:C0027339 semapv:UnspecifiedMatching -DOID:4131 erythrasma oboInOwl:hasDbXref ICD10CM:L08.1 semapv:UnspecifiedMatching DOID:4131 erythrasma oboInOwl:hasDbXref MESH:D004894 semapv:UnspecifiedMatching DOID:4131 erythrasma oboInOwl:hasDbXref UMLS_CUI:C0014752 semapv:UnspecifiedMatching +DOID:4131 erythrasma oboInOwl:hasDbXref ICD10CM:L08.1 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref ICDO:8840/3 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref MESH:D009236 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref NCI:C3255 semapv:UnspecifiedMatching DOID:4136 myxosarcoma oboInOwl:hasDbXref UMLS_CUI:C0027155 semapv:UnspecifiedMatching DOID:4137 common bile duct disease oboInOwl:hasDbXref MESH:D003137 semapv:UnspecifiedMatching DOID:4137 common bile duct disease oboInOwl:hasDbXref UMLS_CUI:C0009440 semapv:UnspecifiedMatching -DOID:4138 bile duct disease oboInOwl:hasDbXref UMLS_CUI:C0005395 semapv:UnspecifiedMatching -DOID:4138 bile duct disease oboInOwl:hasDbXref NCI:C96716 semapv:UnspecifiedMatching DOID:4138 bile duct disease oboInOwl:hasDbXref MESH:D001649 semapv:UnspecifiedMatching +DOID:4138 bile duct disease oboInOwl:hasDbXref NCI:C96716 semapv:UnspecifiedMatching +DOID:4138 bile duct disease oboInOwl:hasDbXref UMLS_CUI:C0005395 semapv:UnspecifiedMatching DOID:4140 biliary dyskinesia oboInOwl:hasDbXref MESH:D001657 semapv:UnspecifiedMatching DOID:4140 biliary dyskinesia oboInOwl:hasDbXref UMLS_CUI:C0005416 semapv:UnspecifiedMatching -DOID:4141 intraorbital meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4141 intraorbital meningioma oboInOwl:hasDbXref NCI:C6778 semapv:UnspecifiedMatching +DOID:4141 intraorbital meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4141 intraorbital meningioma oboInOwl:hasDbXref UMLS_CUI:C1334261 semapv:UnspecifiedMatching -DOID:4143 orbital cancer oboInOwl:hasDbXref ICD10CM:C69.6 semapv:UnspecifiedMatching -DOID:4143 orbital cancer oboInOwl:hasDbXref ICD9CM:190.1 semapv:UnspecifiedMatching -DOID:4143 orbital cancer oboInOwl:hasDbXref MESH:D009918 semapv:UnspecifiedMatching -DOID:4143 orbital cancer oboInOwl:hasDbXref NCI:C3290 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref NCI:C3562 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref UMLS_CUI:C0029185 semapv:UnspecifiedMatching DOID:4143 orbital cancer oboInOwl:hasDbXref UMLS_CUI:C0153626 semapv:UnspecifiedMatching +DOID:4143 orbital cancer oboInOwl:hasDbXref NCI:C3290 semapv:UnspecifiedMatching +DOID:4143 orbital cancer oboInOwl:hasDbXref ICD9CM:190.1 semapv:UnspecifiedMatching +DOID:4143 orbital cancer oboInOwl:hasDbXref ICD10CM:C69.6 semapv:UnspecifiedMatching +DOID:4143 orbital cancer oboInOwl:hasDbXref MESH:D009918 semapv:UnspecifiedMatching DOID:4147 gastrointestinal adenoma oboInOwl:hasDbXref NCI:C36207 semapv:UnspecifiedMatching DOID:4147 gastrointestinal adenoma oboInOwl:hasDbXref UMLS_CUI:C0948101 semapv:UnspecifiedMatching DOID:4148 gastrointestinal neuroendocrine benign tumor oboInOwl:hasDbXref NCI:C27721 semapv:UnspecifiedMatching @@ -24137,95 +24162,95 @@ DOID:4152 chondroid chordoma oboInOwl:hasDbXref ICDO:9371/3 semapv:UnspecifiedMa DOID:4152 chondroid chordoma oboInOwl:hasDbXref NCI:C6902 semapv:UnspecifiedMatching DOID:4152 chondroid chordoma oboInOwl:hasDbXref UMLS_CUI:C1266173 semapv:UnspecifiedMatching DOID:4153 spinal chordoma oboInOwl:hasDbXref NCI:C5156 semapv:UnspecifiedMatching +DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125500 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref UMLS_CUI:C0011436 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref ORDO:49042 semapv:UnspecifiedMatching -DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125500 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref OMIM:125490 semapv:UnspecifiedMatching -DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref NCI:C84667 semapv:UnspecifiedMatching +DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref GARD:6258 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref MESH:D003811 semapv:UnspecifiedMatching DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref GARD:6258 semapv:UnspecifiedMatching +DOID:4154 dentinogenesis imperfecta oboInOwl:hasDbXref NCI:C84667 semapv:UnspecifiedMatching DOID:4156 primary syphilis oboInOwl:hasDbXref ICD9CM:091 semapv:UnspecifiedMatching DOID:4156 primary syphilis oboInOwl:hasDbXref UMLS_CUI:C0153139 semapv:UnspecifiedMatching DOID:4157 secondary syphilis oboInOwl:hasDbXref UMLS_CUI:C0149985 semapv:UnspecifiedMatching -DOID:4157 secondary syphilis oboInOwl:hasDbXref NCI:C128413 semapv:UnspecifiedMatching DOID:4157 secondary syphilis oboInOwl:hasDbXref ICD9CM:091.9 semapv:UnspecifiedMatching DOID:4157 secondary syphilis oboInOwl:hasDbXref MESH:C536773 semapv:UnspecifiedMatching +DOID:4157 secondary syphilis oboInOwl:hasDbXref NCI:C128413 semapv:UnspecifiedMatching +DOID:4159 skin cancer oboInOwl:hasDbXref UMLS_CUI:C0007114 semapv:UnspecifiedMatching +DOID:4159 skin cancer oboInOwl:hasDbXref NCI:C2920 semapv:UnspecifiedMatching DOID:4159 skin cancer oboInOwl:hasDbXref GARD:10421 semapv:UnspecifiedMatching DOID:4159 skin cancer oboInOwl:hasDbXref MESH:D012878 semapv:UnspecifiedMatching -DOID:4159 skin cancer oboInOwl:hasDbXref NCI:C2920 semapv:UnspecifiedMatching -DOID:4159 skin cancer oboInOwl:hasDbXref UMLS_CUI:C0007114 semapv:UnspecifiedMatching DOID:4160 differentiating neuroblastoma oboInOwl:hasDbXref NCI:C42048 semapv:UnspecifiedMatching DOID:4160 differentiating neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1511934 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref ICDO:9490/3 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref MESH:D018305 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref NCI:C3790 semapv:UnspecifiedMatching DOID:4163 ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0206718 semapv:UnspecifiedMatching -DOID:4164 cerebral neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0559458 semapv:UnspecifiedMatching DOID:4164 cerebral neuroblastoma oboInOwl:hasDbXref NCI:C4826 semapv:UnspecifiedMatching -DOID:4166 syphilis oboInOwl:hasDbXref UMLS_CUI:C0007939 semapv:UnspecifiedMatching +DOID:4164 cerebral neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0559458 semapv:UnspecifiedMatching DOID:4166 syphilis oboInOwl:hasDbXref ICD10CM:A51.0 semapv:UnspecifiedMatching DOID:4166 syphilis oboInOwl:hasDbXref MESH:D002601 semapv:UnspecifiedMatching -DOID:417 autoimmune disease oboInOwl:hasDbXref ICD9CM:720 semapv:UnspecifiedMatching -DOID:417 autoimmune disease oboInOwl:hasDbXref OMIM:109100 semapv:UnspecifiedMatching +DOID:4166 syphilis oboInOwl:hasDbXref UMLS_CUI:C0007939 semapv:UnspecifiedMatching DOID:417 autoimmune disease oboInOwl:hasDbXref UMLS_CUI:C0003089 semapv:UnspecifiedMatching +DOID:417 autoimmune disease oboInOwl:hasDbXref OMIM:109100 semapv:UnspecifiedMatching +DOID:417 autoimmune disease oboInOwl:hasDbXref ICD9CM:720 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref MESH:D012203 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref NCI:C113150 semapv:UnspecifiedMatching DOID:4175 Rh isoimmunization oboInOwl:hasDbXref UMLS_CUI:C0035404 semapv:UnspecifiedMatching DOID:4176 blood group incompatibility oboInOwl:hasDbXref MESH:D001787 semapv:UnspecifiedMatching DOID:4176 blood group incompatibility oboInOwl:hasDbXref UMLS_CUI:C0005806 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref EFO:0000717 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref GARD:9748 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD10CM:M34.0 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD9CM:710.1 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref MESH:D012595 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref NCI:C72070 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref UMLS_CUI:C0036421 semapv:UnspecifiedMatching DOID:418 systemic scleroderma oboInOwl:hasDbXref OMIM:181750 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref MESH:D012595 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD9CM:710.1 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref ICD10CM:M34.0 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref GARD:9748 semapv:UnspecifiedMatching -DOID:418 systemic scleroderma oboInOwl:hasDbXref EFO:0000717 semapv:UnspecifiedMatching -DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref GARD:7860 semapv:UnspecifiedMatching -DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching -DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref NCI:C129722 semapv:UnspecifiedMatching +DOID:418 systemic scleroderma oboInOwl:hasDbXref UMLS_CUI:C0036421 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching +DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref NCI:C129722 semapv:UnspecifiedMatching DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0033835 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0033806 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref NCI:C99027 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism skos:exactMatch MESH:D011547 semapv:UnspecifiedMatching -DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20.1 semapv:UnspecifiedMatching +DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref GARD:7860 semapv:UnspecifiedMatching +DOID:4183 pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref GARD:10758 semapv:UnspecifiedMatching +DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref ICD10CM:E20.1 semapv:UnspecifiedMatching DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011547 semapv:UnspecifiedMatching -DOID:4186 articulation disorder oboInOwl:hasDbXref UMLS_CUI:C0003910 semapv:UnspecifiedMatching +DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref NCI:C99027 semapv:UnspecifiedMatching +DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612462 semapv:UnspecifiedMatching +DOID:4184 pseudohypoparathyroidism oboInOwl:hasDbXref UMLS_CUI:C0033806 semapv:UnspecifiedMatching +DOID:4184 pseudohypoparathyroidism skos:exactMatch MESH:D011547 semapv:UnspecifiedMatching DOID:4186 articulation disorder oboInOwl:hasDbXref MESH:D001184 semapv:UnspecifiedMatching +DOID:4186 articulation disorder oboInOwl:hasDbXref UMLS_CUI:C0003910 semapv:UnspecifiedMatching DOID:4188 echolalia oboInOwl:hasDbXref MESH:D004454 semapv:UnspecifiedMatching DOID:4188 echolalia oboInOwl:hasDbXref NCI:C97166 semapv:UnspecifiedMatching DOID:4188 echolalia oboInOwl:hasDbXref UMLS_CUI:C0013528 semapv:UnspecifiedMatching -DOID:4189 mutism oboInOwl:hasDbXref MESH:D009155 semapv:UnspecifiedMatching DOID:4189 mutism oboInOwl:hasDbXref UMLS_CUI:C0026884 semapv:UnspecifiedMatching -DOID:419 scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching +DOID:4189 mutism oboInOwl:hasDbXref MESH:D009155 semapv:UnspecifiedMatching DOID:419 scleroderma oboInOwl:hasDbXref NCI:C26746 semapv:UnspecifiedMatching DOID:419 scleroderma oboInOwl:hasDbXref UMLS_CUI:C0011644 semapv:UnspecifiedMatching +DOID:419 scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching DOID:4193 intracranial thrombosis oboInOwl:hasDbXref ICD9CM:434.0 semapv:UnspecifiedMatching DOID:4193 intracranial thrombosis oboInOwl:hasDbXref MESH:D020767 semapv:UnspecifiedMatching DOID:4193 intracranial thrombosis oboInOwl:hasDbXref UMLS_CUI:C0079102 semapv:UnspecifiedMatching DOID:4193 intracranial thrombosis oboInOwl:hasDbXref UMLS_CUI:C0752143 semapv:UnspecifiedMatching +DOID:4194 glucose metabolism disease oboInOwl:hasDbXref MESH:D044882 semapv:UnspecifiedMatching DOID:4194 glucose metabolism disease oboInOwl:hasDbXref NCI:C53655 semapv:UnspecifiedMatching DOID:4194 glucose metabolism disease oboInOwl:hasDbXref UMLS_CUI:C1257958 semapv:UnspecifiedMatching -DOID:4194 glucose metabolism disease oboInOwl:hasDbXref MESH:D044882 semapv:UnspecifiedMatching +DOID:4195 hyperglycemia oboInOwl:hasDbXref UMLS_CUI:C0020456 semapv:UnspecifiedMatching DOID:4195 hyperglycemia oboInOwl:hasDbXref ICD10CM:R73.9 semapv:UnspecifiedMatching DOID:4195 hyperglycemia oboInOwl:hasDbXref MESH:D006943 semapv:UnspecifiedMatching DOID:4195 hyperglycemia oboInOwl:hasDbXref NCI:C26797 semapv:UnspecifiedMatching -DOID:4195 hyperglycemia oboInOwl:hasDbXref UMLS_CUI:C0020456 semapv:UnspecifiedMatching +DOID:4196 femoral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751931 semapv:UnspecifiedMatching +DOID:4196 femoral neuropathy oboInOwl:hasDbXref NCI:C27595 semapv:UnspecifiedMatching DOID:4196 femoral neuropathy oboInOwl:hasDbXref ICD10CM:G57.2 semapv:UnspecifiedMatching DOID:4196 femoral neuropathy oboInOwl:hasDbXref MESH:D020428 semapv:UnspecifiedMatching -DOID:4196 femoral neuropathy oboInOwl:hasDbXref NCI:C27595 semapv:UnspecifiedMatching -DOID:4196 femoral neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751931 semapv:UnspecifiedMatching -DOID:420 hypertrichosis oboInOwl:hasDbXref UMLS_CUI:C0020555 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref ICD10CM:L68 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref MESH:D006983 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref NCI:C79597 semapv:UnspecifiedMatching DOID:420 hypertrichosis oboInOwl:hasDbXref ORDO:79365 semapv:UnspecifiedMatching -DOID:4201 peroneal neuropathy oboInOwl:hasDbXref NCI:C27596 semapv:UnspecifiedMatching +DOID:420 hypertrichosis oboInOwl:hasDbXref UMLS_CUI:C0020555 semapv:UnspecifiedMatching DOID:4201 peroneal neuropathy oboInOwl:hasDbXref UMLS_CUI:C0747533 semapv:UnspecifiedMatching +DOID:4201 peroneal neuropathy oboInOwl:hasDbXref NCI:C27596 semapv:UnspecifiedMatching DOID:4201 peroneal neuropathy oboInOwl:hasDbXref MESH:D020427 semapv:UnspecifiedMatching DOID:4202 brain stem glioma oboInOwl:hasDbXref NCI:C8501 semapv:UnspecifiedMatching DOID:4202 brain stem glioma oboInOwl:hasDbXref UMLS_CUI:C0677865 semapv:UnspecifiedMatching @@ -24235,52 +24260,52 @@ DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS_CUI:C0677866 semapv:Unspecif DOID:4203 brain stem cancer oboInOwl:hasDbXref UMLS_CUI:C0153641 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C5967 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C4975 semapv:UnspecifiedMatching -DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C4869 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C3570 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref MESH:D020295 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref ICD9CM:191.7 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref ICD10CM:C71.7 semapv:UnspecifiedMatching DOID:4203 brain stem cancer oboInOwl:hasDbXref GARD:8244 semapv:UnspecifiedMatching -DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS_CUI:C0153640 semapv:UnspecifiedMatching -DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS_CUI:C0007762 semapv:UnspecifiedMatching -DOID:4205 cerebellum cancer oboInOwl:hasDbXref NCI:C3569 semapv:UnspecifiedMatching +DOID:4203 brain stem cancer oboInOwl:hasDbXref NCI:C4869 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref ICD10CM:C71.6 semapv:UnspecifiedMatching -DOID:4205 cerebellum cancer oboInOwl:hasDbXref MESH:D002528 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref ICD9CM:191.6 semapv:UnspecifiedMatching +DOID:4205 cerebellum cancer oboInOwl:hasDbXref MESH:D002528 semapv:UnspecifiedMatching DOID:4205 cerebellum cancer oboInOwl:hasDbXref NCI:C2935 semapv:UnspecifiedMatching +DOID:4205 cerebellum cancer oboInOwl:hasDbXref NCI:C3569 semapv:UnspecifiedMatching +DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS_CUI:C0007762 semapv:UnspecifiedMatching +DOID:4205 cerebellum cancer oboInOwl:hasDbXref UMLS_CUI:C0153640 semapv:UnspecifiedMatching DOID:4206 childhood brain stem neoplasm oboInOwl:hasDbXref NCI:C5969 semapv:UnspecifiedMatching DOID:4206 childhood brain stem neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332951 semapv:UnspecifiedMatching -DOID:4207 childhood infratentorial neoplasm oboInOwl:hasDbXref NCI:C5802 semapv:UnspecifiedMatching DOID:4207 childhood infratentorial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332973 semapv:UnspecifiedMatching -DOID:4209 brainstem intraparenchymal clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C1332612 semapv:UnspecifiedMatching +DOID:4207 childhood infratentorial neoplasm oboInOwl:hasDbXref NCI:C5802 semapv:UnspecifiedMatching DOID:4209 brainstem intraparenchymal clear cell meningioma oboInOwl:hasDbXref NCI:C5295 semapv:UnspecifiedMatching +DOID:4209 brainstem intraparenchymal clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C1332612 semapv:UnspecifiedMatching +DOID:421 hair disease oboInOwl:hasDbXref MESH:D006201 semapv:UnspecifiedMatching DOID:421 hair disease oboInOwl:hasDbXref NCI:C34656 semapv:UnspecifiedMatching DOID:421 hair disease oboInOwl:hasDbXref UMLS_CUI:C0018500 semapv:UnspecifiedMatching -DOID:421 hair disease oboInOwl:hasDbXref MESH:D006201 semapv:UnspecifiedMatching -DOID:4210 clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C0431121 semapv:UnspecifiedMatching -DOID:4210 clear cell meningioma oboInOwl:hasDbXref NCI:C4722 semapv:UnspecifiedMatching -DOID:4210 clear cell meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4210 clear cell meningioma oboInOwl:hasDbXref ICDO:9538/1 semapv:UnspecifiedMatching -DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching +DOID:4210 clear cell meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching +DOID:4210 clear cell meningioma oboInOwl:hasDbXref NCI:C4722 semapv:UnspecifiedMatching +DOID:4210 clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C0431121 semapv:UnspecifiedMatching DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref NCI:C6775 semapv:UnspecifiedMatching DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1565950 semapv:UnspecifiedMatching +DOID:4211 posterior fossa meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref MESH:D001948 semapv:UnspecifiedMatching DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref NCI:C4270 semapv:UnspecifiedMatching DOID:4217 malignant ovarian Brenner tumor oboInOwl:hasDbXref UMLS_CUI:C0334495 semapv:UnspecifiedMatching -DOID:422 congenital structural myopathy oboInOwl:hasDbXref UMLS_CUI:C0752282 semapv:UnspecifiedMatching DOID:422 congenital structural myopathy oboInOwl:hasDbXref MESH:D020914 semapv:UnspecifiedMatching DOID:422 congenital structural myopathy oboInOwl:hasDbXref NCI:C84648 semapv:UnspecifiedMatching +DOID:422 congenital structural myopathy oboInOwl:hasDbXref UMLS_CUI:C0752282 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref ICD10CM:L08.0 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref ICD9CM:686.0 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref MESH:D011711 semapv:UnspecifiedMatching DOID:4223 pyoderma oboInOwl:hasDbXref UMLS_CUI:C0034212 semapv:UnspecifiedMatching -DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206630 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C8973 semapv:UnspecifiedMatching +DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 semapv:UnspecifiedMatching +DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206630 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref GARD:6339 semapv:UnspecifiedMatching DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref ICDO:8930/3 semapv:UnspecifiedMatching -DOID:4226 endometrial stromal sarcoma oboInOwl:hasDbXref MESH:D018203 semapv:UnspecifiedMatching -DOID:4227 uterine corpus endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40219 semapv:UnspecifiedMatching DOID:4227 uterine corpus endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C1519849 semapv:UnspecifiedMatching +DOID:4227 uterine corpus endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40219 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref ICD10CM:G72.9 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref ICD9CM:359.9 semapv:UnspecifiedMatching DOID:423 myopathy oboInOwl:hasDbXref MESH:D009135 semapv:UnspecifiedMatching @@ -24290,37 +24315,37 @@ DOID:4230 smooth muscle cancer oboInOwl:hasDbXref NCI:C6511 semapv:UnspecifiedMa DOID:4230 smooth muscle cancer oboInOwl:hasDbXref UMLS_CUI:C1334620 semapv:UnspecifiedMatching DOID:4231 histiocytoma oboInOwl:hasDbXref NCI:C35765 semapv:UnspecifiedMatching DOID:4231 histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1509147 semapv:UnspecifiedMatching -DOID:4231 histiocytoma oboInOwl:hasDbXref MESH:D051642 semapv:UnspecifiedMatching DOID:4231 histiocytoma oboInOwl:hasDbXref ICDO:8831/0 semapv:UnspecifiedMatching +DOID:4231 histiocytoma oboInOwl:hasDbXref MESH:D051642 semapv:UnspecifiedMatching DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref NCI:C27293 semapv:UnspecifiedMatching -DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref ORDO:370334 semapv:UnspecifiedMatching DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333514 semapv:UnspecifiedMatching -DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206651 semapv:UnspecifiedMatching +DOID:4232 extraosseous Ewing sarcoma oboInOwl:hasDbXref ORDO:370334 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref ICDO:9044/3 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref MESH:D018227 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref NCI:C27370 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref NCI:C3745 semapv:UnspecifiedMatching +DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206651 semapv:UnspecifiedMatching DOID:4233 clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332198 semapv:UnspecifiedMatching DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0205945 semapv:UnspecifiedMatching -DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref NCI:C27005 semapv:UnspecifiedMatching DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref ICDO:8801/3 semapv:UnspecifiedMatching DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref MESH:D012509 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C8975 semapv:UnspecifiedMatching +DOID:4235 spindle cell sarcoma oboInOwl:hasDbXref NCI:C27005 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0206627 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0007140 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C3730 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334603 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C8975 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C3730 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref UMLS_CUI:C0007140 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref MESH:D018200 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref MESH:D018199 semapv:UnspecifiedMatching +DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C34448 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref MESH:D002296 semapv:UnspecifiedMatching DOID:4236 carcinosarcoma oboInOwl:hasDbXref ICDO:8980/3 semapv:UnspecifiedMatching -DOID:4236 carcinosarcoma oboInOwl:hasDbXref NCI:C34448 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279544 semapv:UnspecifiedMatching +DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279985 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0206657 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref ORDO:163699 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279985 semapv:UnspecifiedMatching -DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C8092 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref OMIM:606243 semapv:UnspecifiedMatching +DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C8092 semapv:UnspecifiedMatching +DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279544 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C3750 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref MESH:D018234 semapv:UnspecifiedMatching DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref ICDO:9581/3 semapv:UnspecifiedMatching @@ -24329,89 +24354,89 @@ DOID:4239 alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C7943 semapv:Unspeci DOID:424 pulmonary immaturity oboInOwl:hasDbXref ICD10CM:P28.0 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref ICD9CM:770.4 semapv:UnspecifiedMatching DOID:424 pulmonary immaturity oboInOwl:hasDbXref UMLS_CUI:C0270163 semapv:UnspecifiedMatching -DOID:4242 kidney sarcoma oboInOwl:hasDbXref NCI:C4525 semapv:UnspecifiedMatching DOID:4242 kidney sarcoma oboInOwl:hasDbXref UMLS_CUI:C0346251 semapv:UnspecifiedMatching +DOID:4242 kidney sarcoma oboInOwl:hasDbXref NCI:C4525 semapv:UnspecifiedMatching DOID:4247 coronary restenosis oboInOwl:hasDbXref MESH:D023903 semapv:UnspecifiedMatching DOID:4247 coronary restenosis oboInOwl:hasDbXref UMLS_CUI:C0948480 semapv:UnspecifiedMatching +DOID:4248 coronary stenosis oboInOwl:hasDbXref MESH:D023921 semapv:UnspecifiedMatching DOID:4248 coronary stenosis oboInOwl:hasDbXref NCI:C80427 semapv:UnspecifiedMatching DOID:4248 coronary stenosis oboInOwl:hasDbXref UMLS_CUI:C0242231 semapv:UnspecifiedMatching -DOID:4248 coronary stenosis oboInOwl:hasDbXref MESH:D023921 semapv:UnspecifiedMatching -DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS_CUI:C0017495 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref OMIM:137440 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref NCI:C84727 semapv:UnspecifiedMatching +DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching +DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref UMLS_CUI:C0017495 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD10CM:A81.82 semapv:UnspecifiedMatching -DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD9CM:046.71 semapv:UnspecifiedMatching DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref GARD:7690 semapv:UnspecifiedMatching -DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref MESH:D016098 semapv:UnspecifiedMatching +DOID:4249 Gerstmann-Straussler-Scheinker syndrome oboInOwl:hasDbXref ICD9CM:046.71 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref ICD10CM:H11.82 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref ICD9CM:372.81 semapv:UnspecifiedMatching DOID:4250 conjunctivochalasis oboInOwl:hasDbXref UMLS_CUI:C0878693 semapv:UnspecifiedMatching +DOID:4251 conjunctival disease oboInOwl:hasDbXref UMLS_CUI:C0009759 semapv:UnspecifiedMatching +DOID:4251 conjunctival disease oboInOwl:hasDbXref MESH:D003229 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref NCI:C27605 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref ICD10CM:H11.9 semapv:UnspecifiedMatching DOID:4251 conjunctival disease oboInOwl:hasDbXref ICD9CM:372.9 semapv:UnspecifiedMatching -DOID:4251 conjunctival disease oboInOwl:hasDbXref MESH:D003229 semapv:UnspecifiedMatching -DOID:4251 conjunctival disease oboInOwl:hasDbXref UMLS_CUI:C0009759 semapv:UnspecifiedMatching -DOID:4252 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching -DOID:4252 Alexander disease skos:exactMatch MESH:D038261 semapv:UnspecifiedMatching -DOID:4252 Alexander disease oboInOwl:hasDbXref UMLS_CUI:C0270726 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref GARD:5774 semapv:UnspecifiedMatching +DOID:4252 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref NCI:C84545 semapv:UnspecifiedMatching DOID:4252 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching +DOID:4252 Alexander disease oboInOwl:hasDbXref UMLS_CUI:C0270726 semapv:UnspecifiedMatching +DOID:4252 Alexander disease skos:exactMatch MESH:D038261 semapv:UnspecifiedMatching +DOID:4253 melorheostosis oboInOwl:hasDbXref UMLS_CUI:C0025239 semapv:UnspecifiedMatching +DOID:4253 melorheostosis skos:exactMatch MESH:D008557 semapv:UnspecifiedMatching +DOID:4253 melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref GARD:9474 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref MESH:D008557 semapv:UnspecifiedMatching DOID:4253 melorheostosis oboInOwl:hasDbXref NCI:C84887 semapv:UnspecifiedMatching -DOID:4253 melorheostosis oboInOwl:hasDbXref OMIM:155950 semapv:UnspecifiedMatching -DOID:4253 melorheostosis oboInOwl:hasDbXref UMLS_CUI:C0025239 semapv:UnspecifiedMatching -DOID:4253 melorheostosis skos:exactMatch MESH:D008557 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref ICD10CM:Q78.2 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref MESH:D010026 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref NCI:C41236 semapv:UnspecifiedMatching DOID:4254 osteosclerosis oboInOwl:hasDbXref UMLS_CUI:C0029464 semapv:UnspecifiedMatching -DOID:4257 Caffey disease oboInOwl:hasDbXref UMLS_CUI:C0020497 semapv:UnspecifiedMatching -DOID:4257 Caffey disease oboInOwl:hasDbXref OMIM:114000 semapv:UnspecifiedMatching -DOID:4257 Caffey disease oboInOwl:hasDbXref NCI:C84645 semapv:UnspecifiedMatching -DOID:4257 Caffey disease oboInOwl:hasDbXref ICD10CM:M89.8 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref GARD:1051 semapv:UnspecifiedMatching +DOID:4257 Caffey disease oboInOwl:hasDbXref ICD10CM:M89.8 semapv:UnspecifiedMatching DOID:4257 Caffey disease oboInOwl:hasDbXref MESH:D006958 semapv:UnspecifiedMatching -DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching -DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref MESH:D010855 semapv:UnspecifiedMatching -DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref NCI:C85010 semapv:UnspecifiedMatching +DOID:4257 Caffey disease oboInOwl:hasDbXref NCI:C84645 semapv:UnspecifiedMatching +DOID:4257 Caffey disease oboInOwl:hasDbXref OMIM:114000 semapv:UnspecifiedMatching +DOID:4257 Caffey disease oboInOwl:hasDbXref UMLS_CUI:C0020497 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:261800 semapv:UnspecifiedMatching +DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref NCI:C85010 semapv:UnspecifiedMatching DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS_CUI:C0031900 semapv:UnspecifiedMatching +DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching +DOID:4258 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref MESH:D010855 semapv:UnspecifiedMatching +DOID:4260 gait apraxia oboInOwl:hasDbXref UMLS_CUI:C1510417 semapv:UnspecifiedMatching DOID:4260 gait apraxia skos:exactMatch MESH:D020235 semapv:UnspecifiedMatching DOID:4260 gait apraxia oboInOwl:hasDbXref MESH:D020235 semapv:UnspecifiedMatching -DOID:4260 gait apraxia oboInOwl:hasDbXref UMLS_CUI:C1510417 semapv:UnspecifiedMatching +DOID:4265 angiomyoma oboInOwl:hasDbXref MESH:D018229 semapv:UnspecifiedMatching DOID:4265 angiomyoma oboInOwl:hasDbXref NCI:C3747 semapv:UnspecifiedMatching DOID:4265 angiomyoma oboInOwl:hasDbXref UMLS_CUI:C0206653 semapv:UnspecifiedMatching -DOID:4265 angiomyoma oboInOwl:hasDbXref MESH:D018229 semapv:UnspecifiedMatching DOID:4265 angiomyoma skos:exactMatch MESH:D018229 semapv:UnspecifiedMatching -DOID:4266 intravascular angioleiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334267 semapv:UnspecifiedMatching DOID:4266 intravascular angioleiomyoma oboInOwl:hasDbXref NCI:C5355 semapv:UnspecifiedMatching -DOID:4267 akinetic mutism skos:exactMatch MESH:D000405 semapv:UnspecifiedMatching +DOID:4266 intravascular angioleiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334267 semapv:UnspecifiedMatching DOID:4267 akinetic mutism oboInOwl:hasDbXref MESH:D000405 semapv:UnspecifiedMatching DOID:4267 akinetic mutism oboInOwl:hasDbXref UMLS_CUI:C0001889 semapv:UnspecifiedMatching +DOID:4267 akinetic mutism skos:exactMatch MESH:D000405 semapv:UnspecifiedMatching DOID:4270 encephalitozoonosis oboInOwl:hasDbXref MESH:D016890 semapv:UnspecifiedMatching DOID:4270 encephalitozoonosis oboInOwl:hasDbXref UMLS_CUI:C0085412 semapv:UnspecifiedMatching -DOID:4271 microsporidiosis oboInOwl:hasDbXref GARD:3655 semapv:UnspecifiedMatching -DOID:4271 microsporidiosis oboInOwl:hasDbXref ICD10CM:B60.8 semapv:UnspecifiedMatching -DOID:4271 microsporidiosis oboInOwl:hasDbXref MESH:D016881 semapv:UnspecifiedMatching -DOID:4271 microsporidiosis oboInOwl:hasDbXref NCI:C84891 semapv:UnspecifiedMatching DOID:4271 microsporidiosis oboInOwl:hasDbXref UMLS_CUI:C0085407 semapv:UnspecifiedMatching +DOID:4271 microsporidiosis oboInOwl:hasDbXref NCI:C84891 semapv:UnspecifiedMatching +DOID:4271 microsporidiosis oboInOwl:hasDbXref MESH:D016881 semapv:UnspecifiedMatching +DOID:4271 microsporidiosis oboInOwl:hasDbXref ICD10CM:B60.8 semapv:UnspecifiedMatching +DOID:4271 microsporidiosis oboInOwl:hasDbXref GARD:3655 semapv:UnspecifiedMatching DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref NCI:C39961 semapv:UnspecifiedMatching DOID:4277 penis basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518949 semapv:UnspecifiedMatching DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref NCI:C6386 semapv:UnspecifiedMatching DOID:4278 scrotum basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335934 semapv:UnspecifiedMatching DOID:4279 infundibulocystic basal cell carcinoma oboInOwl:hasDbXref OMIM:604451 semapv:UnspecifiedMatching -DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1304300 semapv:UnspecifiedMatching DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref NCI:C62282 semapv:UnspecifiedMatching +DOID:4280 nodular basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1304300 semapv:UnspecifiedMatching DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref ICD10CM:C44.510 semapv:UnspecifiedMatching DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref NCI:C7473 semapv:UnspecifiedMatching DOID:4283 anal margin basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332269 semapv:UnspecifiedMatching DOID:4284 anal margin carcinoma oboInOwl:hasDbXref NCI:C7472 semapv:UnspecifiedMatching DOID:4284 anal margin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349534 semapv:UnspecifiedMatching DOID:4286 skin nasal cell carcinoma with sebaceous differentiation oboInOwl:hasDbXref NCI:C4346 semapv:UnspecifiedMatching -DOID:4287 external ear basal cell carcinoma oboInOwl:hasDbXref NCI:C6082 semapv:UnspecifiedMatching DOID:4287 external ear basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333491 semapv:UnspecifiedMatching +DOID:4287 external ear basal cell carcinoma oboInOwl:hasDbXref NCI:C6082 semapv:UnspecifiedMatching DOID:4288 external ear carcinoma oboInOwl:hasDbXref NCI:C6081 semapv:UnspecifiedMatching DOID:4288 external ear carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333492 semapv:UnspecifiedMatching DOID:429 gynatresia oboInOwl:hasDbXref MESH:D006175 semapv:UnspecifiedMatching @@ -24419,8 +24444,8 @@ DOID:429 gynatresia oboInOwl:hasDbXref NCI:C84743 semapv:UnspecifiedMatching DOID:429 gynatresia oboInOwl:hasDbXref UMLS_CUI:C0018414 semapv:UnspecifiedMatching DOID:4290 adamantinoid basal cell epithelioma oboInOwl:hasDbXref NCI:C7585 semapv:UnspecifiedMatching DOID:4290 adamantinoid basal cell epithelioma oboInOwl:hasDbXref UMLS_CUI:C1304295 semapv:UnspecifiedMatching -DOID:4291 fibroepithelial basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346013 semapv:UnspecifiedMatching DOID:4291 fibroepithelial basal cell carcinoma oboInOwl:hasDbXref NCI:C4109 semapv:UnspecifiedMatching +DOID:4291 fibroepithelial basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346013 semapv:UnspecifiedMatching DOID:4292 morpheaform basal cell carcinoma oboInOwl:hasDbXref NCI:C27182 semapv:UnspecifiedMatching DOID:4292 morpheaform basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0555191 semapv:UnspecifiedMatching DOID:4293 clear cell basal cell carcinoma oboInOwl:hasDbXref NCI:C27536 semapv:UnspecifiedMatching @@ -24433,97 +24458,97 @@ DOID:4297 scimitar syndrome oboInOwl:hasDbXref NCI:C85056 semapv:UnspecifiedMatc DOID:4297 scimitar syndrome oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref ORDO:185 semapv:UnspecifiedMatching DOID:4297 scimitar syndrome oboInOwl:hasDbXref UMLS_CUI:C0036400 semapv:UnspecifiedMatching -DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334256 semapv:UnspecifiedMatching -DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref NCI:C4108 semapv:UnspecifiedMatching DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref ICDO:8091/3 semapv:UnspecifiedMatching +DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref NCI:C4108 semapv:UnspecifiedMatching +DOID:4300 superficial basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334256 semapv:UnspecifiedMatching DOID:4301 vulva basal cell carcinoma oboInOwl:hasDbXref NCI:C6381 semapv:UnspecifiedMatching DOID:4301 vulva basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336977 semapv:UnspecifiedMatching DOID:4303 sarcomatoid basal cell carcinoma oboInOwl:hasDbXref NCI:C38111 semapv:UnspecifiedMatching DOID:4303 sarcomatoid basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519182 semapv:UnspecifiedMatching -DOID:4304 signet ring basal cell carcinoma oboInOwl:hasDbXref NCI:C38110 semapv:UnspecifiedMatching DOID:4304 signet ring basal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519320 semapv:UnspecifiedMatching -DOID:4305 bone giant cell tumor oboInOwl:hasDbXref MESH:D018212 semapv:UnspecifiedMatching -DOID:4305 bone giant cell tumor oboInOwl:hasDbXref NCI:C121932 semapv:UnspecifiedMatching +DOID:4304 signet ring basal cell carcinoma oboInOwl:hasDbXref NCI:C38110 semapv:UnspecifiedMatching DOID:4305 bone giant cell tumor oboInOwl:hasDbXref UMLS_CUI:C0206638 semapv:UnspecifiedMatching +DOID:4305 bone giant cell tumor oboInOwl:hasDbXref NCI:C121932 semapv:UnspecifiedMatching +DOID:4305 bone giant cell tumor oboInOwl:hasDbXref MESH:D018212 semapv:UnspecifiedMatching DOID:4306 radiculopathy oboInOwl:hasDbXref ICD10CM:M54.1 semapv:UnspecifiedMatching DOID:4306 radiculopathy oboInOwl:hasDbXref MESH:D011843 semapv:UnspecifiedMatching DOID:4306 radiculopathy oboInOwl:hasDbXref UMLS_CUI:C0700594 semapv:UnspecifiedMatching +DOID:4307 polyradiculopathy oboInOwl:hasDbXref MESH:D011128 semapv:UnspecifiedMatching DOID:4307 polyradiculopathy oboInOwl:hasDbXref NCI:C34934 semapv:UnspecifiedMatching DOID:4307 polyradiculopathy oboInOwl:hasDbXref UMLS_CUI:C0032586 semapv:UnspecifiedMatching -DOID:4307 polyradiculopathy oboInOwl:hasDbXref MESH:D011128 semapv:UnspecifiedMatching -DOID:4308 polyradiculoneuropathy oboInOwl:hasDbXref UMLS_CUI:C0032587 semapv:UnspecifiedMatching DOID:4308 polyradiculoneuropathy oboInOwl:hasDbXref MESH:D011129 semapv:UnspecifiedMatching +DOID:4308 polyradiculoneuropathy oboInOwl:hasDbXref UMLS_CUI:C0032587 semapv:UnspecifiedMatching DOID:431 myofascial pain syndrome oboInOwl:hasDbXref MESH:D009209 semapv:UnspecifiedMatching DOID:431 myofascial pain syndrome oboInOwl:hasDbXref UMLS_CUI:C0027073 semapv:UnspecifiedMatching DOID:4310 smooth muscle tumor oboInOwl:hasDbXref MESH:D018235 semapv:UnspecifiedMatching DOID:4310 smooth muscle tumor oboInOwl:hasDbXref NCI:C3751 semapv:UnspecifiedMatching DOID:4310 smooth muscle tumor oboInOwl:hasDbXref UMLS_CUI:C0206658 semapv:UnspecifiedMatching +DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS_CUI:C0079293 semapv:UnspecifiedMatching +DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref NCI:C84690 semapv:UnspecifiedMatching DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref ICD10CM:L12.3 semapv:UnspecifiedMatching DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref MESH:D016107 semapv:UnspecifiedMatching -DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref NCI:C84690 semapv:UnspecifiedMatching -DOID:4313 epidermolysis bullosa acquisita oboInOwl:hasDbXref UMLS_CUI:C0079293 semapv:UnspecifiedMatching DOID:4320 non-gestational choriocarcinoma oboInOwl:hasDbXref MESH:D031954 semapv:UnspecifiedMatching DOID:4320 non-gestational choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1135873 semapv:UnspecifiedMatching DOID:4321 large cell acanthoma oboInOwl:hasDbXref ICDO:8072/0 semapv:UnspecifiedMatching DOID:4321 large cell acanthoma oboInOwl:hasDbXref NCI:C27518 semapv:UnspecifiedMatching DOID:4321 large cell acanthoma oboInOwl:hasDbXref UMLS_CUI:C1334362 semapv:UnspecifiedMatching -DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref UMLS_CUI:C0346005 semapv:UnspecifiedMatching -DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref NCI:C4468 semapv:UnspecifiedMatching -DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref ICDO:8104/0 semapv:UnspecifiedMatching DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref MESH:D049309 semapv:UnspecifiedMatching +DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref ICDO:8104/0 semapv:UnspecifiedMatching +DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref NCI:C4468 semapv:UnspecifiedMatching +DOID:4322 pilar sheath acanthoma oboInOwl:hasDbXref UMLS_CUI:C0346005 semapv:UnspecifiedMatching DOID:4323 epidermolytic acanthoma oboInOwl:hasDbXref NCI:C27516 semapv:UnspecifiedMatching DOID:4323 epidermolytic acanthoma oboInOwl:hasDbXref UMLS_CUI:C1333414 semapv:UnspecifiedMatching DOID:4324 acantholytic acanthoma oboInOwl:hasDbXref NCI:C27517 semapv:UnspecifiedMatching DOID:4324 acantholytic acanthoma oboInOwl:hasDbXref UMLS_CUI:C1301270 semapv:UnspecifiedMatching +DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0282687 semapv:UnspecifiedMatching +DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref NCI:C36171 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref GARD:2035 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.4 semapv:UnspecifiedMatching DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref MESH:D019142 semapv:UnspecifiedMatching -DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref NCI:C36171 semapv:UnspecifiedMatching -DOID:4325 Ebola hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0282687 semapv:UnspecifiedMatching -DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0024788 semapv:UnspecifiedMatching -DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref MESH:D008379 semapv:UnspecifiedMatching -DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref NCI:C84883 semapv:UnspecifiedMatching DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref GARD:9444 semapv:UnspecifiedMatching DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.3 semapv:UnspecifiedMatching +DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref MESH:D008379 semapv:UnspecifiedMatching +DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref NCI:C84883 semapv:UnspecifiedMatching +DOID:4327 Marburg hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0024788 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref GARD:6369 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref ICDO:9749/3 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref MESH:D031249 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref NCI:C53972 semapv:UnspecifiedMatching DOID:4329 Erdheim-Chester disease oboInOwl:hasDbXref UMLS_CUI:C0878675 semapv:UnspecifiedMatching -DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref GARD:8231 semapv:UnspecifiedMatching DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0019624 semapv:UnspecifiedMatching -DOID:4331 burning mouth syndrome oboInOwl:hasDbXref UMLS_CUI:C0006430 semapv:UnspecifiedMatching +DOID:4330 non-Langerhans-cell histiocytosis oboInOwl:hasDbXref GARD:8231 semapv:UnspecifiedMatching DOID:4331 burning mouth syndrome oboInOwl:hasDbXref GARD:5974 semapv:UnspecifiedMatching DOID:4331 burning mouth syndrome oboInOwl:hasDbXref MESH:D002054 semapv:UnspecifiedMatching DOID:4331 burning mouth syndrome oboInOwl:hasDbXref NCI:C62545 semapv:UnspecifiedMatching -DOID:4333 parovarian cyst oboInOwl:hasDbXref UMLS_CUI:C0030584 semapv:UnspecifiedMatching -DOID:4333 parovarian cyst oboInOwl:hasDbXref MESH:D010310 semapv:UnspecifiedMatching +DOID:4331 burning mouth syndrome oboInOwl:hasDbXref UMLS_CUI:C0006430 semapv:UnspecifiedMatching DOID:4333 parovarian cyst oboInOwl:hasDbXref ICD10CM:Q50.5 semapv:UnspecifiedMatching +DOID:4333 parovarian cyst oboInOwl:hasDbXref MESH:D010310 semapv:UnspecifiedMatching +DOID:4333 parovarian cyst oboInOwl:hasDbXref UMLS_CUI:C0030584 semapv:UnspecifiedMatching DOID:4334 splenic manifestation of prolymphocytic leukemia oboInOwl:hasDbXref NCI:C7297 semapv:UnspecifiedMatching DOID:4334 splenic manifestation of prolymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C1336066 semapv:UnspecifiedMatching +DOID:4336 tinea favosa oboInOwl:hasDbXref UMLS_CUI:C0040254 semapv:UnspecifiedMatching DOID:4336 tinea favosa oboInOwl:hasDbXref ICD10CM:B35 semapv:UnspecifiedMatching DOID:4336 tinea favosa oboInOwl:hasDbXref MESH:D014007 semapv:UnspecifiedMatching DOID:4336 tinea favosa oboInOwl:hasDbXref NCI:C35072 semapv:UnspecifiedMatching -DOID:4336 tinea favosa oboInOwl:hasDbXref UMLS_CUI:C0040254 semapv:UnspecifiedMatching -DOID:4337 tinea capitis oboInOwl:hasDbXref ICD9CM:110.0 semapv:UnspecifiedMatching -DOID:4337 tinea capitis oboInOwl:hasDbXref NCI:C34536 semapv:UnspecifiedMatching DOID:4337 tinea capitis oboInOwl:hasDbXref UMLS_CUI:C0011640 semapv:UnspecifiedMatching -DOID:4346 variegate porphyria oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching -DOID:4346 variegate porphyria oboInOwl:hasDbXref NCI:C85219 semapv:UnspecifiedMatching -DOID:4346 variegate porphyria oboInOwl:hasDbXref UMLS_CUI:C0162532 semapv:UnspecifiedMatching +DOID:4337 tinea capitis oboInOwl:hasDbXref NCI:C34536 semapv:UnspecifiedMatching +DOID:4337 tinea capitis oboInOwl:hasDbXref ICD9CM:110.0 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref GARD:7848 semapv:UnspecifiedMatching DOID:4346 variegate porphyria oboInOwl:hasDbXref MESH:D046350 semapv:UnspecifiedMatching -DOID:4347 lymphocele oboInOwl:hasDbXref UMLS_CUI:C0024248 semapv:UnspecifiedMatching +DOID:4346 variegate porphyria oboInOwl:hasDbXref NCI:C85219 semapv:UnspecifiedMatching +DOID:4346 variegate porphyria oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching +DOID:4346 variegate porphyria oboInOwl:hasDbXref UMLS_CUI:C0162532 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref MESH:D008210 semapv:UnspecifiedMatching DOID:4347 lymphocele oboInOwl:hasDbXref NCI:C78442 semapv:UnspecifiedMatching +DOID:4347 lymphocele oboInOwl:hasDbXref UMLS_CUI:C0024248 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref ICD10CM:C69.4 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref NCI:C4364 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref NCI:C4766 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref UMLS_CUI:C0339349 semapv:UnspecifiedMatching DOID:4352 ciliary body cancer oboInOwl:hasDbXref UMLS_CUI:C0496833 semapv:UnspecifiedMatching -DOID:4353 ciliary body disease oboInOwl:hasDbXref NCI:C35775 semapv:UnspecifiedMatching DOID:4353 ciliary body disease oboInOwl:hasDbXref UMLS_CUI:C0271100 semapv:UnspecifiedMatching +DOID:4353 ciliary body disease oboInOwl:hasDbXref NCI:C35775 semapv:UnspecifiedMatching DOID:4359 amelanotic melanoma oboInOwl:hasDbXref ICDO:8730/3 semapv:UnspecifiedMatching DOID:4359 amelanotic melanoma oboInOwl:hasDbXref MESH:D018328 semapv:UnspecifiedMatching DOID:4359 amelanotic melanoma oboInOwl:hasDbXref NCI:C3802 semapv:UnspecifiedMatching @@ -24531,52 +24556,52 @@ DOID:4359 amelanotic melanoma oboInOwl:hasDbXref UMLS_CUI:C0206735 semapv:Unspec DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref ICD10CM:C38.2 semapv:UnspecifiedMatching DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref ICD9CM:164.3 semapv:UnspecifiedMatching DOID:436 posterior mediastinum cancer oboInOwl:hasDbXref UMLS_CUI:C0153502 semapv:UnspecifiedMatching -DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C0334443 semapv:UnspecifiedMatching DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref ICDO:8771/3 semapv:UnspecifiedMatching DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref NCI:C4236 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref ICD10CM:C53 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref ICD9CM:180 semapv:UnspecifiedMatching +DOID:4360 epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C0334443 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS_CUI:C0007873 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS_CUI:C0007847 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref OMIM:603956 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C9311 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref MESH:D002583 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref ICD9CM:180 semapv:UnspecifiedMatching +DOID:4362 cervical cancer oboInOwl:hasDbXref ICD10CM:C53 semapv:UnspecifiedMatching DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C2940 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref NCI:C9311 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref OMIM:603956 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS_CUI:C0007847 semapv:UnspecifiedMatching -DOID:4362 cervical cancer oboInOwl:hasDbXref UMLS_CUI:C0007873 semapv:UnspecifiedMatching DOID:4364 malignant breast melanoma oboInOwl:hasDbXref NCI:C8410 semapv:UnspecifiedMatching DOID:4364 malignant breast melanoma oboInOwl:hasDbXref UMLS_CUI:C0346787 semapv:UnspecifiedMatching +DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref NCI:C123231 semapv:UnspecifiedMatching +DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref GARD:433 semapv:UnspecifiedMatching +DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching +DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref ORDO:320 semapv:UnspecifiedMatching DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref UMLS_CUI:C0342488 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref OMIM:218030 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref MESH:D043204 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref GARD:433 semapv:UnspecifiedMatching -DOID:4367 apparent mineralocorticoid excess syndrome oboInOwl:hasDbXref NCI:C123231 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD9CM:358.0 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C1260409 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref GARD:7122 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C0026896 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref NCI:C60989 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD10CM:G70.0 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD10CM:G70.00 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD9CM:358.0 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD9CM:358.00 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref ICD10CM:G70.00 semapv:UnspecifiedMatching +DOID:437 myasthenia gravis oboInOwl:hasDbXref GARD:7122 semapv:UnspecifiedMatching DOID:437 myasthenia gravis oboInOwl:hasDbXref MESH:D009157 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref NCI:C60989 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref OMIM:254200 semapv:UnspecifiedMatching -DOID:437 myasthenia gravis oboInOwl:hasDbXref UMLS_CUI:C0026896 semapv:UnspecifiedMatching -DOID:4370 stomach diverticulosis oboInOwl:hasDbXref UMLS_CUI:C1148546 semapv:UnspecifiedMatching DOID:4370 stomach diverticulosis oboInOwl:hasDbXref MESH:D045724 semapv:UnspecifiedMatching +DOID:4370 stomach diverticulosis oboInOwl:hasDbXref UMLS_CUI:C1148546 semapv:UnspecifiedMatching +DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref UMLS_CUI:C0524988 semapv:UnspecifiedMatching DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref GARD:12390 semapv:UnspecifiedMatching DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref MESH:D019873 semapv:UnspecifiedMatching -DOID:4371 Schnitzler syndrome oboInOwl:hasDbXref UMLS_CUI:C0524988 semapv:UnspecifiedMatching -DOID:4372 intracranial embolism oboInOwl:hasDbXref ICD10CM:I66 semapv:UnspecifiedMatching -DOID:4372 intracranial embolism oboInOwl:hasDbXref ICD9CM:434.1 semapv:UnspecifiedMatching DOID:4372 intracranial embolism oboInOwl:hasDbXref MESH:D020766 semapv:UnspecifiedMatching DOID:4372 intracranial embolism oboInOwl:hasDbXref UMLS_CUI:C0007780 semapv:UnspecifiedMatching +DOID:4372 intracranial embolism oboInOwl:hasDbXref ICD10CM:I66 semapv:UnspecifiedMatching +DOID:4372 intracranial embolism oboInOwl:hasDbXref ICD9CM:434.1 semapv:UnspecifiedMatching DOID:4372 intracranial embolism oboInOwl:hasDbXref UMLS_CUI:C0752140 semapv:UnspecifiedMatching -DOID:4374 Silo filler's disease oboInOwl:hasDbXref MESH:D012832 semapv:UnspecifiedMatching DOID:4374 Silo filler's disease oboInOwl:hasDbXref UMLS_CUI:C0037120 semapv:UnspecifiedMatching -DOID:4376 milk allergy oboInOwl:hasDbXref UMLS_CUI:C0079840 semapv:UnspecifiedMatching +DOID:4374 Silo filler's disease oboInOwl:hasDbXref MESH:D012832 semapv:UnspecifiedMatching DOID:4376 milk allergy oboInOwl:hasDbXref MESH:D016269 semapv:UnspecifiedMatching -DOID:4377 egg allergy oboInOwl:hasDbXref UMLS_CUI:C0559469 semapv:UnspecifiedMatching -DOID:4377 egg allergy oboInOwl:hasDbXref NCI:C172313 semapv:UnspecifiedMatching +DOID:4376 milk allergy oboInOwl:hasDbXref UMLS_CUI:C0079840 semapv:UnspecifiedMatching DOID:4377 egg allergy oboInOwl:hasDbXref MESH:D021181 semapv:UnspecifiedMatching +DOID:4377 egg allergy oboInOwl:hasDbXref NCI:C172313 semapv:UnspecifiedMatching +DOID:4377 egg allergy oboInOwl:hasDbXref UMLS_CUI:C0559469 semapv:UnspecifiedMatching DOID:4378 peanut allergy oboInOwl:hasDbXref MESH:D021183 semapv:UnspecifiedMatching DOID:4378 peanut allergy oboInOwl:hasDbXref UMLS_CUI:C0559470 semapv:UnspecifiedMatching DOID:4379 nut allergy oboInOwl:hasDbXref MESH:D021184 semapv:UnspecifiedMatching @@ -24585,43 +24610,43 @@ DOID:4379 nut allergy oboInOwl:hasDbXref UMLS_CUI:C0577620 semapv:UnspecifiedMat DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref MESH:D020274 semapv:UnspecifiedMatching DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref NCI:C99383 semapv:UnspecifiedMatching DOID:438 autoimmune disease of the nervous system oboInOwl:hasDbXref UMLS_CUI:C0751871 semapv:UnspecifiedMatching -DOID:4384 orbit alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6247 semapv:UnspecifiedMatching DOID:4384 orbit alveolar rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335126 semapv:UnspecifiedMatching +DOID:4384 orbit alveolar rhabdomyosarcoma oboInOwl:hasDbXref NCI:C6247 semapv:UnspecifiedMatching DOID:4385 papillary squamous carcinoma oboInOwl:hasDbXref NCI:C4102 semapv:UnspecifiedMatching DOID:4385 papillary squamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334244 semapv:UnspecifiedMatching -DOID:4386 myofibroma oboInOwl:hasDbXref UMLS_CUI:C1266121 semapv:UnspecifiedMatching -DOID:4386 myofibroma oboInOwl:hasDbXref MESH:D047708 semapv:UnspecifiedMatching DOID:4386 myofibroma oboInOwl:hasDbXref ICDO:8824/0 semapv:UnspecifiedMatching +DOID:4386 myofibroma oboInOwl:hasDbXref MESH:D047708 semapv:UnspecifiedMatching +DOID:4386 myofibroma oboInOwl:hasDbXref UMLS_CUI:C1266121 semapv:UnspecifiedMatching DOID:4388 bone peripheral neuroepithelioma oboInOwl:hasDbXref NCI:C8776 semapv:UnspecifiedMatching DOID:4388 bone peripheral neuroepithelioma oboInOwl:hasDbXref UMLS_CUI:C0855009 semapv:UnspecifiedMatching DOID:4389 soft tissue peripheral neuroepithelioma oboInOwl:hasDbXref NCI:C27471 semapv:UnspecifiedMatching DOID:4389 soft tissue peripheral neuroepithelioma oboInOwl:hasDbXref UMLS_CUI:C1112437 semapv:UnspecifiedMatching DOID:439 neuromuscular junction disease oboInOwl:hasDbXref MESH:D020511 semapv:UnspecifiedMatching DOID:439 neuromuscular junction disease oboInOwl:hasDbXref UMLS_CUI:C0751950 semapv:UnspecifiedMatching -DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref GARD:12967 semapv:UnspecifiedMatching -DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref NCI:C3356 semapv:UnspecifiedMatching DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref UMLS_CUI:C0035290 semapv:UnspecifiedMatching -DOID:4397 granulomatous dermatitis oboInOwl:hasDbXref NCI:C3505 semapv:UnspecifiedMatching +DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref GARD:12967 semapv:UnspecifiedMatching +DOID:4394 reticulohistiocytic granuloma oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching DOID:4397 granulomatous dermatitis oboInOwl:hasDbXref UMLS_CUI:C0743086 semapv:UnspecifiedMatching -DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref UMLS_CUI:C0030246 semapv:UnspecifiedMatching -DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref NCI:C34888 semapv:UnspecifiedMatching -DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching +DOID:4397 granulomatous dermatitis oboInOwl:hasDbXref NCI:C3505 semapv:UnspecifiedMatching DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref ICD10CM:L40.3 semapv:UnspecifiedMatching +DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching +DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref NCI:C34888 semapv:UnspecifiedMatching +DOID:4398 pustulosis of palm and sole oboInOwl:hasDbXref UMLS_CUI:C0030246 semapv:UnspecifiedMatching DOID:4399 acneiform dermatitis oboInOwl:hasDbXref NCI:C35277 semapv:UnspecifiedMatching DOID:4399 acneiform dermatitis oboInOwl:hasDbXref UMLS_CUI:C0234894 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref ICD10CM:G70.9 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref ICD9CM:358 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref MESH:D009468 semapv:UnspecifiedMatching DOID:440 neuromuscular disease oboInOwl:hasDbXref UMLS_CUI:C0027868 semapv:UnspecifiedMatching -DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching -DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref MESH:C562379 semapv:UnspecifiedMatching -DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref NCI:C2984 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref OMIM:125600 semapv:UnspecifiedMatching +DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref NCI:C2984 semapv:UnspecifiedMatching DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref UMLS_CUI:C0011645 semapv:UnspecifiedMatching -DOID:4404 occupational dermatitis oboInOwl:hasDbXref UMLS_CUI:C0028796 semapv:UnspecifiedMatching -DOID:4404 occupational dermatitis oboInOwl:hasDbXref NCI:C34859 semapv:UnspecifiedMatching +DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching +DOID:4400 dermatosis papulosa nigra oboInOwl:hasDbXref MESH:C562379 semapv:UnspecifiedMatching DOID:4404 occupational dermatitis oboInOwl:hasDbXref MESH:D009783 semapv:UnspecifiedMatching +DOID:4404 occupational dermatitis oboInOwl:hasDbXref NCI:C34859 semapv:UnspecifiedMatching +DOID:4404 occupational dermatitis oboInOwl:hasDbXref UMLS_CUI:C0028796 semapv:UnspecifiedMatching DOID:4406 spongiotic dermatitis oboInOwl:hasDbXref NCI:C27037 semapv:UnspecifiedMatching DOID:4406 spongiotic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0262984 semapv:UnspecifiedMatching DOID:4407 phototoxic dermatitis oboInOwl:hasDbXref MESH:D017484 semapv:UnspecifiedMatching @@ -24630,64 +24655,64 @@ DOID:4407 phototoxic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0162830 semapv:Unsp DOID:4409 folliculitis oboInOwl:hasDbXref MESH:D005499 semapv:UnspecifiedMatching DOID:4409 folliculitis oboInOwl:hasDbXref NCI:C94408 semapv:UnspecifiedMatching DOID:4409 folliculitis oboInOwl:hasDbXref UMLS_CUI:C0016436 semapv:UnspecifiedMatching -DOID:4411 hepatitis E oboInOwl:hasDbXref GARD:9541 semapv:UnspecifiedMatching DOID:4411 hepatitis E oboInOwl:hasDbXref MESH:D016751 semapv:UnspecifiedMatching +DOID:4411 hepatitis E oboInOwl:hasDbXref GARD:9541 semapv:UnspecifiedMatching DOID:4411 hepatitis E oboInOwl:hasDbXref UMLS_CUI:C0085293 semapv:UnspecifiedMatching DOID:4413 cervix melanoma oboInOwl:hasDbXref NCI:C40239 semapv:UnspecifiedMatching DOID:4413 cervix melanoma oboInOwl:hasDbXref UMLS_CUI:C0877611 semapv:UnspecifiedMatching DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref NCI:C3739 semapv:UnspecifiedMatching DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref MESH:D018219 semapv:UnspecifiedMatching DOID:4415 fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0206644 semapv:UnspecifiedMatching +DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0346049 semapv:UnspecifiedMatching +DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0002991 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref NCI:C7749 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref NCI:C6801 semapv:UnspecifiedMatching -DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0002991 semapv:UnspecifiedMatching -DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref GARD:9807 semapv:UnspecifiedMatching DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref MESH:D018219 semapv:UnspecifiedMatching -DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C0346049 semapv:UnspecifiedMatching -DOID:4419 benign deep fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1266125 semapv:UnspecifiedMatching +DOID:4418 cutaneous fibrous histiocytoma oboInOwl:hasDbXref GARD:9807 semapv:UnspecifiedMatching DOID:4419 benign deep fibrous histiocytoma oboInOwl:hasDbXref NCI:C6492 semapv:UnspecifiedMatching -DOID:4422 malignant adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1510778 semapv:UnspecifiedMatching +DOID:4419 benign deep fibrous histiocytoma oboInOwl:hasDbXref UMLS_CUI:C1266125 semapv:UnspecifiedMatching DOID:4422 malignant adenofibroma oboInOwl:hasDbXref NCI:C40035 semapv:UnspecifiedMatching +DOID:4422 malignant adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1510778 semapv:UnspecifiedMatching +DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0036489 semapv:UnspecifiedMatching +DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref MESH:D012618 semapv:UnspecifiedMatching DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref NCI:C85062 semapv:UnspecifiedMatching -DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref OMIM:269600 semapv:UnspecifiedMatching -DOID:4423 sea-blue histiocytosis oboInOwl:hasDbXref UMLS_CUI:C0036489 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref ICDO:9749/1 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref MESH:D014972 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref NCI:C3451 semapv:UnspecifiedMatching DOID:4424 juvenile xanthogranuloma oboInOwl:hasDbXref UMLS_CUI:C0043324 semapv:UnspecifiedMatching +DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606616 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref UMLS_CUI:C0476254 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:608995 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606616 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:604254 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:606896 semapv:UnspecifiedMatching +DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:604254 semapv:UnspecifiedMatching +DOID:4428 dyslexia oboInOwl:hasDbXref ICD10CM:F81.0 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:300509 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref NCI:C96410 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:600202 semapv:UnspecifiedMatching DOID:4428 dyslexia oboInOwl:hasDbXref MESH:D004410 semapv:UnspecifiedMatching -DOID:4428 dyslexia oboInOwl:hasDbXref ICD10CM:F81.0 semapv:UnspecifiedMatching -DOID:4430 somatostatinoma oboInOwl:hasDbXref NCI:C3379 semapv:UnspecifiedMatching -DOID:4430 somatostatinoma oboInOwl:hasDbXref MESH:D013005 semapv:UnspecifiedMatching +DOID:4428 dyslexia oboInOwl:hasDbXref OMIM:600202 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C0037661 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref GARD:4900 semapv:UnspecifiedMatching DOID:4430 somatostatinoma oboInOwl:hasDbXref ICDO:8156/3 semapv:UnspecifiedMatching -DOID:4432 pancreatic somatostatinoma oboInOwl:hasDbXref NCI:C95595 semapv:UnspecifiedMatching +DOID:4430 somatostatinoma oboInOwl:hasDbXref MESH:D013005 semapv:UnspecifiedMatching +DOID:4430 somatostatinoma oboInOwl:hasDbXref NCI:C3379 semapv:UnspecifiedMatching DOID:4432 pancreatic somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C1368041 semapv:UnspecifiedMatching +DOID:4432 pancreatic somatostatinoma oboInOwl:hasDbXref NCI:C95595 semapv:UnspecifiedMatching DOID:4433 pancreatic delta cell neoplasm oboInOwl:hasDbXref NCI:C28396 semapv:UnspecifiedMatching DOID:4433 pancreatic delta cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335301 semapv:UnspecifiedMatching DOID:4434 small intestine neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5803 semapv:UnspecifiedMatching DOID:4434 small intestine neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336005 semapv:UnspecifiedMatching -DOID:4435 cavernous sinus meningioma oboInOwl:hasDbXref UMLS_CUI:C1332865 semapv:UnspecifiedMatching DOID:4435 cavernous sinus meningioma oboInOwl:hasDbXref NCI:C5268 semapv:UnspecifiedMatching -DOID:4436 anterior cranial fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1332301 semapv:UnspecifiedMatching +DOID:4435 cavernous sinus meningioma oboInOwl:hasDbXref UMLS_CUI:C1332865 semapv:UnspecifiedMatching DOID:4436 anterior cranial fossa meningioma oboInOwl:hasDbXref NCI:C5286 semapv:UnspecifiedMatching +DOID:4436 anterior cranial fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1332301 semapv:UnspecifiedMatching DOID:4437 skull base meningioma oboInOwl:hasDbXref NCI:C5272 semapv:UnspecifiedMatching DOID:4437 skull base meningioma oboInOwl:hasDbXref UMLS_CUI:C1335976 semapv:UnspecifiedMatching DOID:4438 central nervous system germinoma oboInOwl:hasDbXref GARD:2005 semapv:UnspecifiedMatching DOID:4438 central nervous system germinoma oboInOwl:hasDbXref NCI:C7009 semapv:UnspecifiedMatching DOID:4438 central nervous system germinoma oboInOwl:hasDbXref UMLS_CUI:C1333813 semapv:UnspecifiedMatching -DOID:4439 central nervous system germ cell tumor oboInOwl:hasDbXref NCI:C5461 semapv:UnspecifiedMatching DOID:4439 central nervous system germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332880 semapv:UnspecifiedMatching +DOID:4439 central nervous system germ cell tumor oboInOwl:hasDbXref NCI:C5461 semapv:UnspecifiedMatching DOID:4440 seminoma oboInOwl:hasDbXref ICDO:9061/3 semapv:UnspecifiedMatching DOID:4440 seminoma oboInOwl:hasDbXref MESH:D018239 semapv:UnspecifiedMatching DOID:4440 seminoma oboInOwl:hasDbXref NCI:C9309 semapv:UnspecifiedMatching @@ -24695,161 +24720,161 @@ DOID:4440 seminoma oboInOwl:hasDbXref UMLS_CUI:C0036631 semapv:UnspecifiedMatchi DOID:4441 dysgerminoma oboInOwl:hasDbXref ICDO:9060/3 semapv:UnspecifiedMatching DOID:4441 dysgerminoma oboInOwl:hasDbXref MESH:D004407 semapv:UnspecifiedMatching DOID:4441 dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C0013377 semapv:UnspecifiedMatching -DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C1516408 semapv:UnspecifiedMatching DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C40225 semapv:UnspecifiedMatching +DOID:4442 cervical alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C1516408 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref MESH:D008269 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref NCI:C34794 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref OMIM:153880 semapv:UnspecifiedMatching DOID:4447 cystoid macular edema oboInOwl:hasDbXref UMLS_CUI:C0024440 semapv:UnspecifiedMatching -DOID:4448 macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching -DOID:4448 macular degeneration oboInOwl:hasDbXref NCI:C123330 semapv:UnspecifiedMatching -DOID:4448 macular degeneration oboInOwl:hasDbXref ORDO:279 semapv:UnspecifiedMatching DOID:4448 macular degeneration oboInOwl:hasDbXref UMLS_CUI:C0024437 semapv:UnspecifiedMatching +DOID:4448 macular degeneration oboInOwl:hasDbXref ORDO:279 semapv:UnspecifiedMatching +DOID:4448 macular degeneration oboInOwl:hasDbXref NCI:C123330 semapv:UnspecifiedMatching +DOID:4448 macular degeneration oboInOwl:hasDbXref MESH:D008268 semapv:UnspecifiedMatching DOID:4449 macular retinal edema oboInOwl:hasDbXref MESH:D008269 semapv:UnspecifiedMatching DOID:4449 macular retinal edema oboInOwl:hasDbXref NCI:C35468 semapv:UnspecifiedMatching DOID:4449 macular retinal edema oboInOwl:hasDbXref UMLS_CUI:C0271051 semapv:UnspecifiedMatching -DOID:445 Bartter disease oboInOwl:hasDbXref UMLS_CUI:C0004775 semapv:UnspecifiedMatching -DOID:445 Bartter disease oboInOwl:hasDbXref OMIMPS:601678 semapv:UnspecifiedMatching -DOID:445 Bartter disease oboInOwl:hasDbXref NCI:C34412 semapv:UnspecifiedMatching +DOID:445 Bartter disease oboInOwl:hasDbXref GARD:5893 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref ICD10CM:E26.81 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref ICD9CM:255.13 semapv:UnspecifiedMatching -DOID:445 Bartter disease oboInOwl:hasDbXref GARD:5893 semapv:UnspecifiedMatching DOID:445 Bartter disease oboInOwl:hasDbXref MESH:D001477 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref EFO:0000681 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref GARD:13215 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ICDO:8312/3 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref NCI:C9385 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 semapv:UnspecifiedMatching -DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ORDO:217071 semapv:UnspecifiedMatching +DOID:445 Bartter disease oboInOwl:hasDbXref NCI:C34412 semapv:UnspecifiedMatching +DOID:445 Bartter disease oboInOwl:hasDbXref OMIMPS:601678 semapv:UnspecifiedMatching +DOID:445 Bartter disease oboInOwl:hasDbXref UMLS_CUI:C0004775 semapv:UnspecifiedMatching DOID:4450 renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007134 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ORDO:217071 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref OMIM:300854 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref NCI:C9385 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref ICDO:8312/3 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref GARD:13215 semapv:UnspecifiedMatching +DOID:4450 renal cell carcinoma oboInOwl:hasDbXref EFO:0000681 semapv:UnspecifiedMatching DOID:4451 renal carcinoma oboInOwl:hasDbXref NCI:C9384 semapv:UnspecifiedMatching DOID:4451 renal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1378703 semapv:UnspecifiedMatching -DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333001 semapv:UnspecifiedMatching DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref NCI:C6568 semapv:UnspecifiedMatching +DOID:4454 childhood kidney cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333001 semapv:UnspecifiedMatching DOID:4455 hereditary renal cell carcinoma oboInOwl:hasDbXref GARD:9571 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0020428 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD10CM:E26 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD9CM:255.0 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD9CM:255.1 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref MESH:D003480 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref MESH:D006929 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C113213 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C2969 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching -DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ORDO:235936 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0010481 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ORDO:235936 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:613677 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref OMIM:605635 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C2969 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref MESH:D006929 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref MESH:D003480 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD9CM:255.1 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD9CM:255.0 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD10CM:E26 semapv:UnspecifiedMatching DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref ICD10CM:E24 semapv:UnspecifiedMatching -DOID:4463 multilocular clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346249 semapv:UnspecifiedMatching +DOID:446 primary hyperaldosteronism oboInOwl:hasDbXref NCI:C113213 semapv:UnspecifiedMatching DOID:4463 multilocular clear cell renal cell carcinoma oboInOwl:hasDbXref NCI:C4524 semapv:UnspecifiedMatching +DOID:4463 multilocular clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346249 semapv:UnspecifiedMatching +DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266044 semapv:UnspecifiedMatching +DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref NCI:C6194 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref GARD:9573 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref ICDO:8319/3 semapv:UnspecifiedMatching DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching -DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref NCI:C6194 semapv:UnspecifiedMatching -DOID:4464 collecting duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266044 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref GARD:9572 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336078 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1306837 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C6975 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref MESH:C538614 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching +DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref GARD:9572 semapv:UnspecifiedMatching DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C27890 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref NCI:C6975 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref OMIM:605074 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1306837 semapv:UnspecifiedMatching -DOID:4465 papillary renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336078 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279702 semapv:UnspecifiedMatching -DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref NCI:C4033 semapv:UnspecifiedMatching -DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref GARD:9574 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref ICDO:8310/3 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref MESH:D008649 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref MESH:D018262 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C36815 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C4072 semapv:UnspecifiedMatching -DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C4156 semapv:UnspecifiedMatching +DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching +DOID:4467 clear cell renal cell carcinoma oboInOwl:hasDbXref NCI:C4033 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0025490 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C4156 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206681 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C4072 semapv:UnspecifiedMatching DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334322 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref MESH:D018262 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref MESH:D008649 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref ICDO:8310/3 semapv:UnspecifiedMatching +DOID:4468 clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C36815 semapv:UnspecifiedMatching DOID:447 renal tubular transport disease oboInOwl:hasDbXref MESH:D015499 semapv:UnspecifiedMatching DOID:447 renal tubular transport disease oboInOwl:hasDbXref UMLS_CUI:C0035091 semapv:UnspecifiedMatching -DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266042 semapv:UnspecifiedMatching -DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C4146 semapv:UnspecifiedMatching -DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref GARD:6064 semapv:UnspecifiedMatching +DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching +DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C4146 semapv:UnspecifiedMatching +DOID:4471 chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266042 semapv:UnspecifiedMatching DOID:4472 mucinous tubular and spindle renal cell carcinoma oboInOwl:hasDbXref NCI:C39807 semapv:UnspecifiedMatching DOID:4472 mucinous tubular and spindle renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513719 semapv:UnspecifiedMatching DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref MESH:D002292 semapv:UnspecifiedMatching DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref NCI:C27893 semapv:UnspecifiedMatching DOID:4473 sarcomatoid renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266043 semapv:UnspecifiedMatching +DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0033805 semapv:UnspecifiedMatching DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref MESH:D011546 semapv:UnspecifiedMatching DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref NCI:C85034 semapv:UnspecifiedMatching -DOID:4479 pseudohypoaldosteronism oboInOwl:hasDbXref UMLS_CUI:C0033805 semapv:UnspecifiedMatching -DOID:4480 achondroplasia skos:exactMatch MESH:D000130 semapv:UnspecifiedMatching -DOID:4480 achondroplasia oboInOwl:hasDbXref UMLS_CUI:C0001080 semapv:UnspecifiedMatching -DOID:4480 achondroplasia oboInOwl:hasDbXref NCI:C34345 semapv:UnspecifiedMatching -DOID:4480 achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching -DOID:4480 achondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref GARD:8173 semapv:UnspecifiedMatching +DOID:4480 achondroplasia oboInOwl:hasDbXref ICD10CM:Q77.4 semapv:UnspecifiedMatching DOID:4480 achondroplasia oboInOwl:hasDbXref MESH:D000130 semapv:UnspecifiedMatching +DOID:4480 achondroplasia oboInOwl:hasDbXref NCI:C34345 semapv:UnspecifiedMatching +DOID:4480 achondroplasia oboInOwl:hasDbXref OMIM:100800 semapv:UnspecifiedMatching +DOID:4480 achondroplasia oboInOwl:hasDbXref UMLS_CUI:C0001080 semapv:UnspecifiedMatching +DOID:4480 achondroplasia skos:exactMatch MESH:D000130 semapv:UnspecifiedMatching +DOID:4481 allergic rhinitis skos:exactMatch MESH:D065631 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref EFO:0003956 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref NCI:C34987 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref OMIM:607154 semapv:UnspecifiedMatching DOID:4481 allergic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0002103 semapv:UnspecifiedMatching -DOID:4481 allergic rhinitis skos:exactMatch MESH:D065631 semapv:UnspecifiedMatching -DOID:4483 rhinitis oboInOwl:hasDbXref MESH:D012220 semapv:UnspecifiedMatching -DOID:4483 rhinitis oboInOwl:hasDbXref NCI:C34986 semapv:UnspecifiedMatching DOID:4483 rhinitis oboInOwl:hasDbXref UMLS_CUI:C0035455 semapv:UnspecifiedMatching +DOID:4483 rhinitis oboInOwl:hasDbXref NCI:C34986 semapv:UnspecifiedMatching +DOID:4483 rhinitis oboInOwl:hasDbXref MESH:D012220 semapv:UnspecifiedMatching DOID:4486 malignant biphasic mesothelioma oboInOwl:hasDbXref NCI:C4282 semapv:UnspecifiedMatching DOID:4486 malignant biphasic mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334515 semapv:UnspecifiedMatching DOID:4488 sarcomatoid mesothelioma oboInOwl:hasDbXref NCI:C45655 semapv:UnspecifiedMatching DOID:4488 sarcomatoid mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0334513 semapv:UnspecifiedMatching -DOID:4489 malignant epithelial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0862312 semapv:UnspecifiedMatching DOID:4489 malignant epithelial mesothelioma oboInOwl:hasDbXref NCI:C7985 semapv:UnspecifiedMatching +DOID:4489 malignant epithelial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0862312 semapv:UnspecifiedMatching DOID:4491 persian gulf syndrome oboInOwl:hasDbXref MESH:D018923 semapv:UnspecifiedMatching DOID:4491 persian gulf syndrome oboInOwl:hasDbXref UMLS_CUI:C0282550 semapv:UnspecifiedMatching DOID:4492 avian influenza oboInOwl:hasDbXref ICD10CM:J09.X semapv:UnspecifiedMatching DOID:4492 avian influenza oboInOwl:hasDbXref MESH:D005585 semapv:UnspecifiedMatching DOID:4492 avian influenza oboInOwl:hasDbXref UMLS_CUI:C0016627 semapv:UnspecifiedMatching -DOID:450 myotonic disease oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching +DOID:450 myotonic disease skos:exactMatch MESH:D009223 semapv:UnspecifiedMatching +DOID:450 myotonic disease oboInOwl:hasDbXref UMLS_CUI:C0553604 semapv:UnspecifiedMatching +DOID:450 myotonic disease oboInOwl:hasDbXref NCI:C84913 semapv:UnspecifiedMatching DOID:450 myotonic disease oboInOwl:hasDbXref ICD9CM:359.2 semapv:UnspecifiedMatching +DOID:450 myotonic disease oboInOwl:hasDbXref ICD10CM:G71.1 semapv:UnspecifiedMatching DOID:450 myotonic disease oboInOwl:hasDbXref MESH:D020967 semapv:UnspecifiedMatching -DOID:450 myotonic disease oboInOwl:hasDbXref NCI:C84913 semapv:UnspecifiedMatching -DOID:450 myotonic disease oboInOwl:hasDbXref UMLS_CUI:C0553604 semapv:UnspecifiedMatching -DOID:450 myotonic disease skos:exactMatch MESH:D009223 semapv:UnspecifiedMatching DOID:4500 hypokalemia oboInOwl:hasDbXref NCI:C34939 semapv:UnspecifiedMatching DOID:4500 hypokalemia oboInOwl:hasDbXref UMLS_CUI:C1514284 semapv:UnspecifiedMatching +DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref MESH:D009958 semapv:UnspecifiedMatching DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref UMLS_CUI:C0029294 semapv:UnspecifiedMatching -DOID:4501 orofaciodigital syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:4504 central nervous system angiosarcoma oboInOwl:hasDbXref NCI:C5450 semapv:UnspecifiedMatching DOID:4504 central nervous system angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332875 semapv:UnspecifiedMatching DOID:4505 childhood angiosarcoma oboInOwl:hasDbXref NCI:C9174 semapv:UnspecifiedMatching DOID:4505 childhood angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279988 semapv:UnspecifiedMatching DOID:4510 aorta angiosarcoma oboInOwl:hasDbXref NCI:C5376 semapv:UnspecifiedMatching DOID:4510 aorta angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332312 semapv:UnspecifiedMatching -DOID:4511 breast angiosarcoma oboInOwl:hasDbXref MESH:C536368 semapv:UnspecifiedMatching DOID:4511 breast angiosarcoma oboInOwl:hasDbXref NCI:C5184 semapv:UnspecifiedMatching +DOID:4511 breast angiosarcoma oboInOwl:hasDbXref MESH:C536368 semapv:UnspecifiedMatching DOID:4511 breast angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332614 semapv:UnspecifiedMatching -DOID:4512 conventional angiosarcoma oboInOwl:hasDbXref NCI:C9426 semapv:UnspecifiedMatching DOID:4512 conventional angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333155 semapv:UnspecifiedMatching +DOID:4512 conventional angiosarcoma oboInOwl:hasDbXref NCI:C9426 semapv:UnspecifiedMatching DOID:4513 gallbladder angiosarcoma oboInOwl:hasDbXref NCI:C5840 semapv:UnspecifiedMatching DOID:4513 gallbladder angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333742 semapv:UnspecifiedMatching DOID:4514 thyroid angiosarcoma oboInOwl:hasDbXref NCI:C6043 semapv:UnspecifiedMatching DOID:4514 thyroid angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336748 semapv:UnspecifiedMatching -DOID:4515 thyroid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336756 semapv:UnspecifiedMatching DOID:4515 thyroid sarcoma oboInOwl:hasDbXref NCI:C6041 semapv:UnspecifiedMatching -DOID:4517 skin angiosarcoma oboInOwl:hasDbXref NCI:C4489 semapv:UnspecifiedMatching +DOID:4515 thyroid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336756 semapv:UnspecifiedMatching DOID:4517 skin angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346081 semapv:UnspecifiedMatching +DOID:4517 skin angiosarcoma oboInOwl:hasDbXref NCI:C4489 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref ICDO:8940/0 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref MESH:D008949 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref NCI:C35691 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching DOID:452 pleomorphic adenoma oboInOwl:hasDbXref UMLS_CUI:C0026277 semapv:UnspecifiedMatching -DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40220 semapv:UnspecifiedMatching DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C3642326 semapv:UnspecifiedMatching -DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref NCI:C40218 semapv:UnspecifiedMatching +DOID:4520 cervical endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40220 semapv:UnspecifiedMatching DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref UMLS_CUI:C4289586 semapv:UnspecifiedMatching -DOID:4522 superior vena cava angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336530 semapv:UnspecifiedMatching +DOID:4521 cervix endometrial stromal tumor oboInOwl:hasDbXref NCI:C40218 semapv:UnspecifiedMatching DOID:4522 superior vena cava angiosarcoma oboInOwl:hasDbXref NCI:C5378 semapv:UnspecifiedMatching +DOID:4522 superior vena cava angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336530 semapv:UnspecifiedMatching DOID:4524 prostate angiosarcoma oboInOwl:hasDbXref NCI:C5528 semapv:UnspecifiedMatching DOID:4524 prostate angiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335504 semapv:UnspecifiedMatching DOID:4525 mediastinum angiosarcoma oboInOwl:hasDbXref NCI:C6613 semapv:UnspecifiedMatching @@ -24863,10 +24888,10 @@ DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C3772 semapv:Unspecifi DOID:4531 mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206694 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref UMLS_CUI:C0018522 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref ORDO:2108 semapv:UnspecifiedMatching -DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching +DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref NCI:C84746 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref MESH:D006210 semapv:UnspecifiedMatching DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref GARD:288 semapv:UnspecifiedMatching -DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref NCI:C84746 semapv:UnspecifiedMatching +DOID:4534 Hallermann-Streiff syndrome oboInOwl:hasDbXref OMIM:234100 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref MESH:D007039 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref OMIMPS:605389 semapv:UnspecifiedMatching DOID:4535 hypotrichosis oboInOwl:hasDbXref ORDO:55654 semapv:UnspecifiedMatching @@ -24877,10 +24902,10 @@ DOID:4540 dysgraphia oboInOwl:hasDbXref UMLS_CUI:C0001825 semapv:UnspecifiedMatc DOID:4541 nominal aphasia oboInOwl:hasDbXref MESH:D000849 semapv:UnspecifiedMatching DOID:4541 nominal aphasia oboInOwl:hasDbXref NCI:C34386 semapv:UnspecifiedMatching DOID:4541 nominal aphasia oboInOwl:hasDbXref UMLS_CUI:C0003113 semapv:UnspecifiedMatching -DOID:4542 basophil adenoma oboInOwl:hasDbXref MESH:D000237 semapv:UnspecifiedMatching +DOID:4542 basophil adenoma oboInOwl:hasDbXref NCI:C2856 semapv:UnspecifiedMatching DOID:4542 basophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0001431 semapv:UnspecifiedMatching +DOID:4542 basophil adenoma oboInOwl:hasDbXref MESH:D000237 semapv:UnspecifiedMatching DOID:4542 basophil adenoma oboInOwl:hasDbXref ICDO:8300/0 semapv:UnspecifiedMatching -DOID:4542 basophil adenoma oboInOwl:hasDbXref NCI:C2856 semapv:UnspecifiedMatching DOID:4543 retrograde amnesia oboInOwl:hasDbXref ICD10CM:R41.2 semapv:UnspecifiedMatching DOID:4543 retrograde amnesia oboInOwl:hasDbXref MESH:D000648 semapv:UnspecifiedMatching DOID:4543 retrograde amnesia oboInOwl:hasDbXref NCI:C34372 semapv:UnspecifiedMatching @@ -24893,15 +24918,15 @@ DOID:4546 childhood mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C27374 sem DOID:4546 childhood mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332982 semapv:UnspecifiedMatching DOID:4547 adult mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C27375 semapv:UnspecifiedMatching DOID:4547 adult mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332207 semapv:UnspecifiedMatching -DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1275279 semapv:UnspecifiedMatching DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref NCI:C27481 semapv:UnspecifiedMatching -DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C27502 semapv:UnspecifiedMatching +DOID:4548 extraskeletal mesenchymal chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1275279 semapv:UnspecifiedMatching +DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1275278 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref OMIM:612237 semapv:UnspecifiedMatching -DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICDO:9231/3 semapv:UnspecifiedMatching DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref MESH:C563195 semapv:UnspecifiedMatching -DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1275278 semapv:UnspecifiedMatching -DOID:4550 anal gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C0002757 semapv:UnspecifiedMatching +DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C27502 semapv:UnspecifiedMatching +DOID:4549 extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICDO:9231/3 semapv:UnspecifiedMatching DOID:4550 anal gland neoplasm oboInOwl:hasDbXref MESH:D000694 semapv:UnspecifiedMatching +DOID:4550 anal gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C0002757 semapv:UnspecifiedMatching DOID:4551 anus benign neoplasm oboInOwl:hasDbXref MESH:D001005 semapv:UnspecifiedMatching DOID:4551 anus benign neoplasm oboInOwl:hasDbXref NCI:C2877 semapv:UnspecifiedMatching DOID:4551 anus benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0003463 semapv:UnspecifiedMatching @@ -24913,10 +24938,10 @@ DOID:4553 thymus large cell carcinoma oboInOwl:hasDbXref NCI:C6461 semapv:Unspec DOID:4553 thymus large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334364 semapv:UnspecifiedMatching DOID:4554 type C thymoma oboInOwl:hasDbXref NCI:C7612 semapv:UnspecifiedMatching DOID:4554 type C thymoma oboInOwl:hasDbXref UMLS_CUI:C1322286 semapv:UnspecifiedMatching -DOID:4555 ovarian large-cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C5238 semapv:UnspecifiedMatching DOID:4555 ovarian large-cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335174 semapv:UnspecifiedMatching -DOID:4556 lung large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345958 semapv:UnspecifiedMatching +DOID:4555 ovarian large-cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C5238 semapv:UnspecifiedMatching DOID:4556 lung large cell carcinoma oboInOwl:hasDbXref NCI:C4450 semapv:UnspecifiedMatching +DOID:4556 lung large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345958 semapv:UnspecifiedMatching DOID:4557 oral leukoedema oboInOwl:hasDbXref MESH:D007967 semapv:UnspecifiedMatching DOID:4557 oral leukoedema oboInOwl:hasDbXref UMLS_CUI:C0023523 semapv:UnspecifiedMatching DOID:4558 Ludwig's angina oboInOwl:hasDbXref MESH:D008158 semapv:UnspecifiedMatching @@ -24930,9 +24955,9 @@ DOID:4560 non specific chronic endometritis oboInOwl:hasDbXref NCI:C27625 semapv DOID:4560 non specific chronic endometritis oboInOwl:hasDbXref UMLS_CUI:C1335061 semapv:UnspecifiedMatching DOID:4561 granulomatous endometritis oboInOwl:hasDbXref UMLS_CUI:C1333876 semapv:UnspecifiedMatching DOID:4561 granulomatous endometritis oboInOwl:hasDbXref NCI:C27626 semapv:UnspecifiedMatching -DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref UMLS_CUI:C0014122 semapv:UnspecifiedMatching DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref MESH:D004698 semapv:UnspecifiedMatching DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref NCI:C34583 semapv:UnspecifiedMatching +DOID:4562 subacute bacterial endocarditis oboInOwl:hasDbXref UMLS_CUI:C0014122 semapv:UnspecifiedMatching DOID:4584 choroid plexus meningioma oboInOwl:hasDbXref NCI:C4719 semapv:UnspecifiedMatching DOID:4584 choroid plexus meningioma oboInOwl:hasDbXref UMLS_CUI:C0431118 semapv:UnspecifiedMatching DOID:4586 familial meningioma oboInOwl:hasDbXref MESH:C537443 semapv:UnspecifiedMatching @@ -24941,8 +24966,8 @@ DOID:4586 familial meningioma oboInOwl:hasDbXref UMLS_CUI:C1333989 semapv:Unspec DOID:4587 benign meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4587 benign meningioma oboInOwl:hasDbXref NCI:C4055 semapv:UnspecifiedMatching DOID:4587 benign meningioma oboInOwl:hasDbXref UMLS_CUI:C0281784 semapv:UnspecifiedMatching -DOID:4588 secretory meningioma oboInOwl:hasDbXref NCI:C4718 semapv:UnspecifiedMatching DOID:4588 secretory meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching +DOID:4588 secretory meningioma oboInOwl:hasDbXref NCI:C4718 semapv:UnspecifiedMatching DOID:4588 secretory meningioma oboInOwl:hasDbXref UMLS_CUI:C1384406 semapv:UnspecifiedMatching DOID:4591 lymphoplasmacyte-rich meningioma oboInOwl:hasDbXref UMLS_CUI:C0431119 semapv:UnspecifiedMatching DOID:4591 lymphoplasmacyte-rich meningioma oboInOwl:hasDbXref NCI:C4720 semapv:UnspecifiedMatching @@ -24951,19 +24976,19 @@ DOID:4593 childhood meningioma oboInOwl:hasDbXref UMLS_CUI:C0280656 semapv:Unspe DOID:4594 microcystic meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:4594 microcystic meningioma oboInOwl:hasDbXref NCI:C4721 semapv:UnspecifiedMatching DOID:4594 microcystic meningioma oboInOwl:hasDbXref UMLS_CUI:C1384408 semapv:UnspecifiedMatching -DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref NCI:C62569 semapv:UnspecifiedMatching -DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref MESH:D017488 semapv:UnspecifiedMatching -DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref OMIM:113800 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref GARD:1039 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref ICD10CM:Q80.3 semapv:UnspecifiedMatching +DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref MESH:D017488 semapv:UnspecifiedMatching +DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref NCI:C62569 semapv:UnspecifiedMatching +DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref OMIM:113800 semapv:UnspecifiedMatching DOID:4603 epidermolytic hyperkeratosis oboInOwl:hasDbXref UMLS_CUI:C0079153 semapv:UnspecifiedMatching -DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS_CUI:C0005396 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS_CUI:C0153453 semapv:UnspecifiedMatching -DOID:4606 bile duct cancer oboInOwl:hasDbXref NCI:C7483 semapv:UnspecifiedMatching +DOID:4606 bile duct cancer oboInOwl:hasDbXref UMLS_CUI:C0005396 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref NCI:C2898 semapv:UnspecifiedMatching -DOID:4606 bile duct cancer oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching +DOID:4606 bile duct cancer oboInOwl:hasDbXref NCI:C7483 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref ICD9CM:156.1 semapv:UnspecifiedMatching DOID:4606 bile duct cancer oboInOwl:hasDbXref ICD10CM:C24.0 semapv:UnspecifiedMatching +DOID:4606 bile duct cancer oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref GARD:5924 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref GARD:9304 semapv:UnspecifiedMatching DOID:4607 biliary tract cancer oboInOwl:hasDbXref ICD10CM:C24.9 semapv:UnspecifiedMatching @@ -24973,11 +24998,11 @@ DOID:4607 biliary tract cancer oboInOwl:hasDbXref UMLS_CUI:C0005426 semapv:Unspe DOID:4607 biliary tract cancer oboInOwl:hasDbXref UMLS_CUI:C0750952 semapv:UnspecifiedMatching DOID:4608 common bile duct neoplasm oboInOwl:hasDbXref MESH:D003138 semapv:UnspecifiedMatching DOID:4608 common bile duct neoplasm oboInOwl:hasDbXref UMLS_CUI:C0009442 semapv:UnspecifiedMatching +DOID:461 muscle benign neoplasm oboInOwl:hasDbXref NCI:C4063 semapv:UnspecifiedMatching DOID:461 muscle benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0282606 semapv:UnspecifiedMatching DOID:461 muscle benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0027664 semapv:UnspecifiedMatching -DOID:461 muscle benign neoplasm oboInOwl:hasDbXref NCI:C4063 semapv:UnspecifiedMatching -DOID:461 muscle benign neoplasm oboInOwl:hasDbXref MESH:D019042 semapv:UnspecifiedMatching DOID:461 muscle benign neoplasm oboInOwl:hasDbXref MESH:D009379 semapv:UnspecifiedMatching +DOID:461 muscle benign neoplasm oboInOwl:hasDbXref MESH:D019042 semapv:UnspecifiedMatching DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref MESH:D007414 semapv:UnspecifiedMatching DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref NCI:C3141 semapv:UnspecifiedMatching DOID:4610 intestinal benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0021841 semapv:UnspecifiedMatching @@ -24987,13 +25012,13 @@ DOID:4617 periapical granuloma oboInOwl:hasDbXref MESH:D010484 semapv:Unspecifie DOID:4617 periapical granuloma oboInOwl:hasDbXref UMLS_CUI:C0031029 semapv:UnspecifiedMatching DOID:4618 maxillary cancer oboInOwl:hasDbXref MESH:D008441 semapv:UnspecifiedMatching DOID:4618 maxillary cancer oboInOwl:hasDbXref UMLS_CUI:C0024954 semapv:UnspecifiedMatching -DOID:4621 holoprosencephaly oboInOwl:hasDbXref UMLS_CUI:C0079541 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref ORDO:2162 semapv:UnspecifiedMatching -DOID:4621 holoprosencephaly oboInOwl:hasDbXref OMIMPS:236100 semapv:UnspecifiedMatching +DOID:4621 holoprosencephaly oboInOwl:hasDbXref UMLS_CUI:C0079541 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref NCI:C74988 semapv:UnspecifiedMatching -DOID:4621 holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching +DOID:4621 holoprosencephaly oboInOwl:hasDbXref OMIMPS:236100 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref ICD10CM:Q04.2 semapv:UnspecifiedMatching DOID:4621 holoprosencephaly oboInOwl:hasDbXref GARD:6665 semapv:UnspecifiedMatching +DOID:4621 holoprosencephaly oboInOwl:hasDbXref MESH:D016142 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref GARD:7251 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref ICD10CM:Q78.4 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref MESH:D004687 semapv:UnspecifiedMatching @@ -25002,33 +25027,33 @@ DOID:4624 Ollier disease oboInOwl:hasDbXref OMIM:166000 semapv:UnspecifiedMatchi DOID:4624 Ollier disease oboInOwl:hasDbXref ORDO:296 semapv:UnspecifiedMatching DOID:4624 Ollier disease oboInOwl:hasDbXref UMLS_CUI:C0024454 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref NCI:C98949 semapv:UnspecifiedMatching -DOID:4626 hydranencephaly oboInOwl:hasDbXref MESH:D006832 semapv:UnspecifiedMatching -DOID:4626 hydranencephaly oboInOwl:hasDbXref UMLS_CUI:C0020225 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref GARD:6681 semapv:UnspecifiedMatching DOID:4626 hydranencephaly oboInOwl:hasDbXref ICD10CM:Q04.3 semapv:UnspecifiedMatching -DOID:4627 ideomotor apraxia oboInOwl:hasDbXref MESH:D020240 semapv:UnspecifiedMatching +DOID:4626 hydranencephaly oboInOwl:hasDbXref MESH:D006832 semapv:UnspecifiedMatching +DOID:4626 hydranencephaly oboInOwl:hasDbXref UMLS_CUI:C0020225 semapv:UnspecifiedMatching DOID:4627 ideomotor apraxia oboInOwl:hasDbXref UMLS_CUI:C0234523 semapv:UnspecifiedMatching +DOID:4627 ideomotor apraxia oboInOwl:hasDbXref MESH:D020240 semapv:UnspecifiedMatching DOID:4630 inverted transitional papilloma oboInOwl:hasDbXref UMLS_CUI:C0334269 semapv:UnspecifiedMatching DOID:4633 nasal cavity inverting papilloma oboInOwl:hasDbXref NCI:C8194 semapv:UnspecifiedMatching DOID:4633 nasal cavity inverting papilloma oboInOwl:hasDbXref UMLS_CUI:C0280336 semapv:UnspecifiedMatching -DOID:4636 submandibular adenitis oboInOwl:hasDbXref UMLS_CUI:C0235591 semapv:UnspecifiedMatching DOID:4636 submandibular adenitis oboInOwl:hasDbXref NCI:C27016 semapv:UnspecifiedMatching +DOID:4636 submandibular adenitis oboInOwl:hasDbXref UMLS_CUI:C0235591 semapv:UnspecifiedMatching DOID:4637 cervical adenitis oboInOwl:hasDbXref NCI:C26937 semapv:UnspecifiedMatching DOID:4637 cervical adenitis oboInOwl:hasDbXref UMLS_CUI:C0149642 semapv:UnspecifiedMatching DOID:4638 postauricular lymphadenitis oboInOwl:hasDbXref NCI:C27332 semapv:UnspecifiedMatching DOID:4638 postauricular lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0919638 semapv:UnspecifiedMatching DOID:4639 suppurative lymphadenitis oboInOwl:hasDbXref NCI:C27135 semapv:UnspecifiedMatching DOID:4639 suppurative lymphadenitis oboInOwl:hasDbXref UMLS_CUI:C0392051 semapv:UnspecifiedMatching -DOID:4640 axillary adenitis oboInOwl:hasDbXref NCI:C27333 semapv:UnspecifiedMatching DOID:4640 axillary adenitis oboInOwl:hasDbXref UMLS_CUI:C0919797 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS_CUI:C0079298 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:615425 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching +DOID:4640 axillary adenitis oboInOwl:hasDbXref NCI:C27333 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref ORDO:304 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref MESH:D016110 semapv:UnspecifiedMatching -DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref GARD:10752 semapv:UnspecifiedMatching +DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:615425 semapv:UnspecifiedMatching +DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS_CUI:C0079298 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref NCI:C84692 semapv:UnspecifiedMatching +DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref MESH:D016110 semapv:UnspecifiedMatching +DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10CM:Q81.0 semapv:UnspecifiedMatching +DOID:4644 epidermolysis bullosa simplex oboInOwl:hasDbXref GARD:10752 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref ICD10CM:C69.2 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref ICD9CM:190.5 semapv:UnspecifiedMatching DOID:4645 retinal cancer oboInOwl:hasDbXref MESH:D019572 semapv:UnspecifiedMatching @@ -25041,8 +25066,8 @@ DOID:4648 familial retinoblastoma oboInOwl:hasDbXref NCI:C8495 semapv:Unspecifie DOID:4648 familial retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0751483 semapv:UnspecifiedMatching DOID:4650 bilateral retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0854914 semapv:UnspecifiedMatching DOID:4650 bilateral retinoblastoma oboInOwl:hasDbXref NCI:C8713 semapv:UnspecifiedMatching -DOID:4651 unilateral retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0854915 semapv:UnspecifiedMatching DOID:4651 unilateral retinoblastoma oboInOwl:hasDbXref NCI:C8714 semapv:UnspecifiedMatching +DOID:4651 unilateral retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0854915 semapv:UnspecifiedMatching DOID:4653 intraocular retinoblastoma oboInOwl:hasDbXref NCI:C7846 semapv:UnspecifiedMatching DOID:4653 intraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0278717 semapv:UnspecifiedMatching DOID:4656 extraocular retinoblastoma oboInOwl:hasDbXref NCI:C7848 semapv:UnspecifiedMatching @@ -25054,11 +25079,11 @@ DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref ICD10CM:D47.09 semapv:Un DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref MESH:D034801 semapv:UnspecifiedMatching DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref NCI:C7136 semapv:UnspecifiedMatching DOID:4659 extracutaneous mastocytoma oboInOwl:hasDbXref UMLS_CUI:C0272202 semapv:UnspecifiedMatching -DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref NCI:C9286 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref UMLS_CUI:C0272203 semapv:UnspecifiedMatching +DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref NCI:C9286 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching -DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref ICD10CM:D47.02 semapv:UnspecifiedMatching DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref ICDO:9741/1 semapv:UnspecifiedMatching +DOID:4660 indolent systemic mastocytosis oboInOwl:hasDbXref ICD10CM:D47.02 semapv:UnspecifiedMatching DOID:4661 multiple chemical sensitivity oboInOwl:hasDbXref MESH:D018777 semapv:UnspecifiedMatching DOID:4661 multiple chemical sensitivity oboInOwl:hasDbXref UMLS_CUI:C0242992 semapv:UnspecifiedMatching DOID:4662 thalamic disease oboInOwl:hasDbXref MESH:D013786 semapv:UnspecifiedMatching @@ -25086,11 +25111,11 @@ DOID:4675 uremic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0268708 semapv:Unspecif DOID:4676 uremia oboInOwl:hasDbXref ICD10CM:N19 semapv:UnspecifiedMatching DOID:4676 uremia oboInOwl:hasDbXref MESH:D014511 semapv:UnspecifiedMatching DOID:4676 uremia oboInOwl:hasDbXref UMLS_CUI:C0041948 semapv:UnspecifiedMatching -DOID:4677 keratitis oboInOwl:hasDbXref UMLS_CUI:C0022568 semapv:UnspecifiedMatching -DOID:4677 keratitis oboInOwl:hasDbXref MESH:D007634 semapv:UnspecifiedMatching DOID:4677 keratitis oboInOwl:hasDbXref NCI:C26805 semapv:UnspecifiedMatching -DOID:4677 keratitis oboInOwl:hasDbXref ICD10CM:H16 semapv:UnspecifiedMatching +DOID:4677 keratitis oboInOwl:hasDbXref UMLS_CUI:C0022568 semapv:UnspecifiedMatching DOID:4677 keratitis oboInOwl:hasDbXref ICD9CM:370 semapv:UnspecifiedMatching +DOID:4677 keratitis oboInOwl:hasDbXref ICD10CM:H16 semapv:UnspecifiedMatching +DOID:4677 keratitis oboInOwl:hasDbXref MESH:D007634 semapv:UnspecifiedMatching DOID:4678 thymus mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C6457 semapv:UnspecifiedMatching DOID:4678 thymus mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334814 semapv:UnspecifiedMatching DOID:4679 breast mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C5166 semapv:UnspecifiedMatching @@ -25099,14 +25124,14 @@ DOID:468 intramuscular hemangioma oboInOwl:hasDbXref ICDO:9132/0 semapv:Unspecif DOID:468 intramuscular hemangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:468 intramuscular hemangioma oboInOwl:hasDbXref NCI:C3699 semapv:UnspecifiedMatching DOID:468 intramuscular hemangioma oboInOwl:hasDbXref UMLS_CUI:C0205789 semapv:UnspecifiedMatching +DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334708 semapv:UnspecifiedMatching +DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref NCI:C5164 semapv:UnspecifiedMatching DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref GARD:10804 semapv:UnspecifiedMatching DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref ICDO:8575/3 semapv:UnspecifiedMatching -DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref NCI:C5164 semapv:UnspecifiedMatching -DOID:4680 breast metaplastic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334708 semapv:UnspecifiedMatching DOID:4681 bile duct mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C5862 semapv:UnspecifiedMatching DOID:4681 bile duct mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332552 semapv:UnspecifiedMatching -DOID:4682 extrahepatic bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238019 semapv:UnspecifiedMatching DOID:4682 extrahepatic bile duct carcinoma oboInOwl:hasDbXref NCI:C3860 semapv:UnspecifiedMatching +DOID:4682 extrahepatic bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238019 semapv:UnspecifiedMatching DOID:4683 cutaneous mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C4472 semapv:UnspecifiedMatching DOID:4683 cutaneous mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346019 semapv:UnspecifiedMatching DOID:4685 lacrimal gland mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C6091 semapv:UnspecifiedMatching @@ -25115,22 +25140,22 @@ DOID:4686 mucoepidermoid esophageal carcinoma oboInOwl:hasDbXref NCI:C5343 semap DOID:4686 mucoepidermoid esophageal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333461 semapv:UnspecifiedMatching DOID:4687 thyroid gland mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C38762 semapv:UnspecifiedMatching DOID:4687 thyroid gland mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513721 semapv:UnspecifiedMatching -DOID:4688 laryngeal mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C9463 semapv:UnspecifiedMatching DOID:4688 laryngeal mucoepidermoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334373 semapv:UnspecifiedMatching +DOID:4688 laryngeal mucoepidermoid carcinoma oboInOwl:hasDbXref NCI:C9463 semapv:UnspecifiedMatching DOID:469 deep angioma oboInOwl:hasDbXref NCI:C6555 semapv:UnspecifiedMatching DOID:469 deep angioma oboInOwl:hasDbXref UMLS_CUI:C1333265 semapv:UnspecifiedMatching DOID:4690 childhood mediastinal neurogenic tumor oboInOwl:hasDbXref NCI:C5429 semapv:UnspecifiedMatching DOID:4690 childhood mediastinal neurogenic tumor oboInOwl:hasDbXref UMLS_CUI:C1332981 semapv:UnspecifiedMatching -DOID:4691 malignant mediastinal neurogenic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334672 semapv:UnspecifiedMatching DOID:4691 malignant mediastinal neurogenic neoplasm oboInOwl:hasDbXref NCI:C6624 semapv:UnspecifiedMatching +DOID:4691 malignant mediastinal neurogenic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334672 semapv:UnspecifiedMatching DOID:4692 endophthalmitis oboInOwl:hasDbXref MESH:D009877 semapv:UnspecifiedMatching DOID:4692 endophthalmitis oboInOwl:hasDbXref NCI:C34586 semapv:UnspecifiedMatching DOID:4692 endophthalmitis oboInOwl:hasDbXref UMLS_CUI:C0014236 semapv:UnspecifiedMatching DOID:4693 nerve plexus neoplasm oboInOwl:hasDbXref NCI:C5822 semapv:UnspecifiedMatching DOID:4693 nerve plexus neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334945 semapv:UnspecifiedMatching -DOID:4696 intraneural perineurioma oboInOwl:hasDbXref GARD:10921 semapv:UnspecifiedMatching -DOID:4696 intraneural perineurioma oboInOwl:hasDbXref NCI:C6911 semapv:UnspecifiedMatching DOID:4696 intraneural perineurioma oboInOwl:hasDbXref UMLS_CUI:C1370658 semapv:UnspecifiedMatching +DOID:4696 intraneural perineurioma oboInOwl:hasDbXref NCI:C6911 semapv:UnspecifiedMatching +DOID:4696 intraneural perineurioma oboInOwl:hasDbXref GARD:10921 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref GARD:12698 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref ICDO:9571/0 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref MESH:D018317 semapv:UnspecifiedMatching @@ -25138,28 +25163,28 @@ DOID:4697 perineurioma oboInOwl:hasDbXref NCI:C4973 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref NCI:C6912 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref UMLS_CUI:C0751691 semapv:UnspecifiedMatching DOID:4697 perineurioma oboInOwl:hasDbXref UMLS_CUI:C1370657 semapv:UnspecifiedMatching -DOID:4698 nerve root neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334946 semapv:UnspecifiedMatching DOID:4698 nerve root neoplasm oboInOwl:hasDbXref NCI:C5119 semapv:UnspecifiedMatching +DOID:4698 nerve root neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334946 semapv:UnspecifiedMatching DOID:4699 epicardium cancer oboInOwl:hasDbXref NCI:C5347 semapv:UnspecifiedMatching DOID:4699 epicardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346610 semapv:UnspecifiedMatching DOID:4699 epicardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290403 semapv:UnspecifiedMatching -DOID:47 prostate disease oboInOwl:hasDbXref ICD10CM:N42.9 semapv:UnspecifiedMatching -DOID:47 prostate disease oboInOwl:hasDbXref ICD9CM:602.9 semapv:UnspecifiedMatching -DOID:47 prostate disease oboInOwl:hasDbXref MESH:D011469 semapv:UnspecifiedMatching DOID:47 prostate disease oboInOwl:hasDbXref NCI:C26865 semapv:UnspecifiedMatching +DOID:47 prostate disease oboInOwl:hasDbXref MESH:D011469 semapv:UnspecifiedMatching DOID:47 prostate disease oboInOwl:hasDbXref UMLS_CUI:C0033575 semapv:UnspecifiedMatching -DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref ICDO:9142/0 semapv:UnspecifiedMatching +DOID:47 prostate disease oboInOwl:hasDbXref ICD10CM:N42.9 semapv:UnspecifiedMatching +DOID:47 prostate disease oboInOwl:hasDbXref ICD9CM:602.9 semapv:UnspecifiedMatching DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref NCI:C4299 semapv:UnspecifiedMatching DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref UMLS_CUI:C0334540 semapv:UnspecifiedMatching -DOID:4702 mongolian spot oboInOwl:hasDbXref MESH:D049328 semapv:UnspecifiedMatching +DOID:470 verrucous keratotic hemangioma oboInOwl:hasDbXref ICDO:9142/0 semapv:UnspecifiedMatching DOID:4702 mongolian spot oboInOwl:hasDbXref NCI:C3945 semapv:UnspecifiedMatching DOID:4702 mongolian spot oboInOwl:hasDbXref UMLS_CUI:C0265985 semapv:UnspecifiedMatching -DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0021432 semapv:UnspecifiedMatching -DOID:4706 infratentorial cancer oboInOwl:hasDbXref NCI:C4966 semapv:UnspecifiedMatching -DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0751593 semapv:UnspecifiedMatching -DOID:4706 infratentorial cancer oboInOwl:hasDbXref MESH:D015192 semapv:UnspecifiedMatching +DOID:4702 mongolian spot oboInOwl:hasDbXref MESH:D049328 semapv:UnspecifiedMatching DOID:4706 infratentorial cancer oboInOwl:hasDbXref ICD10CM:C71.7 semapv:UnspecifiedMatching +DOID:4706 infratentorial cancer oboInOwl:hasDbXref MESH:D015192 semapv:UnspecifiedMatching DOID:4706 infratentorial cancer oboInOwl:hasDbXref NCI:C3139 semapv:UnspecifiedMatching +DOID:4706 infratentorial cancer oboInOwl:hasDbXref NCI:C4966 semapv:UnspecifiedMatching +DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0021432 semapv:UnspecifiedMatching +DOID:4706 infratentorial cancer oboInOwl:hasDbXref UMLS_CUI:C0751593 semapv:UnspecifiedMatching DOID:4707 cervicomedullary junction neoplasm oboInOwl:hasDbXref NCI:C5423 semapv:UnspecifiedMatching DOID:4707 cervicomedullary junction neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332923 semapv:UnspecifiedMatching DOID:4708 foramen magnum meningioma oboInOwl:hasDbXref NCI:C5280 semapv:UnspecifiedMatching @@ -25168,12 +25193,12 @@ DOID:471 skin hemangioma oboInOwl:hasDbXref NCI:C4905 semapv:UnspecifiedMatching DOID:471 skin hemangioma oboInOwl:hasDbXref UMLS_CUI:C0687140 semapv:UnspecifiedMatching DOID:4715 gastric neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5696 semapv:UnspecifiedMatching DOID:4715 gastric neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333783 semapv:UnspecifiedMatching -DOID:4716 malignant gastric germ cell tumor oboInOwl:hasDbXref NCI:C6448 semapv:UnspecifiedMatching DOID:4716 malignant gastric germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1333769 semapv:UnspecifiedMatching -DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334581 semapv:UnspecifiedMatching -DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0262963 semapv:UnspecifiedMatching +DOID:4716 malignant gastric germ cell tumor oboInOwl:hasDbXref NCI:C6448 semapv:UnspecifiedMatching DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref NCI:C3918 semapv:UnspecifiedMatching DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref NCI:C8881 semapv:UnspecifiedMatching +DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0262963 semapv:UnspecifiedMatching +DOID:4717 extragonadal germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334581 semapv:UnspecifiedMatching DOID:4719 bone giant cell sarcoma oboInOwl:hasDbXref NCI:C4304 semapv:UnspecifiedMatching DOID:4719 bone giant cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334552 semapv:UnspecifiedMatching DOID:472 subglottic angioma oboInOwl:hasDbXref NCI:C6026 semapv:UnspecifiedMatching @@ -25181,33 +25206,33 @@ DOID:472 subglottic angioma oboInOwl:hasDbXref UMLS_CUI:C1336518 semapv:Unspecif DOID:4723 intracranial hypotension oboInOwl:hasDbXref ICD10CM:G96.81 semapv:UnspecifiedMatching DOID:4723 intracranial hypotension oboInOwl:hasDbXref MESH:D019585 semapv:UnspecifiedMatching DOID:4723 intracranial hypotension oboInOwl:hasDbXref UMLS_CUI:C0524812 semapv:UnspecifiedMatching -DOID:4724 brain edema oboInOwl:hasDbXref UMLS_CUI:C1527311 semapv:UnspecifiedMatching DOID:4724 brain edema oboInOwl:hasDbXref MESH:D001929 semapv:UnspecifiedMatching -DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref NCI:C34988 semapv:UnspecifiedMatching +DOID:4724 brain edema oboInOwl:hasDbXref UMLS_CUI:C1527311 semapv:UnspecifiedMatching DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref UMLS_CUI:C0035460 semapv:UnspecifiedMatching -DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref ICD10CM:J30.0 semapv:UnspecifiedMatching +DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref NCI:C34988 semapv:UnspecifiedMatching DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref MESH:D012223 semapv:UnspecifiedMatching +DOID:4730 vasomotor rhinitis oboInOwl:hasDbXref ICD10CM:J30.0 semapv:UnspecifiedMatching DOID:4731 atrophic rhinitis oboInOwl:hasDbXref MESH:D012222 semapv:UnspecifiedMatching DOID:4731 atrophic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0035459 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref GARD:5980 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref MESH:D002115 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref NCI:C84607 semapv:UnspecifiedMatching DOID:4734 calciphylaxis oboInOwl:hasDbXref UMLS_CUI:C0006666 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS_CUI:C0037650 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref NCI:C34956 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref MESH:D013001 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS_CUI:C0520482 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD9CM:300.8 semapv:UnspecifiedMatching -DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD10CM:F45.0 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD10CM:F45 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD10CM:F45.0 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD9CM:300.8 semapv:UnspecifiedMatching DOID:4737 somatoform disorder oboInOwl:hasDbXref ICD9CM:300.81 semapv:UnspecifiedMatching -DOID:4739 testicular Brenner tumor oboInOwl:hasDbXref NCI:C39953 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref MESH:D013001 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref NCI:C34956 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS_CUI:C0037650 semapv:UnspecifiedMatching +DOID:4737 somatoform disorder oboInOwl:hasDbXref UMLS_CUI:C0520482 semapv:UnspecifiedMatching DOID:4739 testicular Brenner tumor oboInOwl:hasDbXref UMLS_CUI:C1515281 semapv:UnspecifiedMatching +DOID:4739 testicular Brenner tumor oboInOwl:hasDbXref NCI:C39953 semapv:UnspecifiedMatching DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref MESH:D006391 semapv:UnspecifiedMatching DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref NCI:C4298 semapv:UnspecifiedMatching DOID:474 histiocytoid hemangioma oboInOwl:hasDbXref UMLS_CUI:C0205788 semapv:UnspecifiedMatching -DOID:4743 mixed testicular germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1336720 semapv:UnspecifiedMatching DOID:4743 mixed testicular germ cell tumor oboInOwl:hasDbXref NCI:C6347 semapv:UnspecifiedMatching +DOID:4743 mixed testicular germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1336720 semapv:UnspecifiedMatching DOID:4744 placenta accreta oboInOwl:hasDbXref ICD10CM:O43.21 semapv:UnspecifiedMatching DOID:4744 placenta accreta oboInOwl:hasDbXref MESH:D010921 semapv:UnspecifiedMatching DOID:4744 placenta accreta oboInOwl:hasDbXref NCI:C26856 semapv:UnspecifiedMatching @@ -25215,12 +25240,12 @@ DOID:4744 placenta accreta oboInOwl:hasDbXref UMLS_CUI:C0032044 semapv:Unspecifi DOID:4749 middle cranial fossa meningioma oboInOwl:hasDbXref NCI:C5586 semapv:UnspecifiedMatching DOID:4749 middle cranial fossa meningioma oboInOwl:hasDbXref UMLS_CUI:C1334757 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref UMLS_CUI:C0270733 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:609161 semapv:UnspecifiedMatching +DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:500003 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref MESH:D020955 semapv:UnspecifiedMatching -DOID:4751 striatonigral degeneration oboInOwl:hasDbXref ICD10CM:G23.2 semapv:UnspecifiedMatching DOID:4751 striatonigral degeneration oboInOwl:hasDbXref NCI:C125695 semapv:UnspecifiedMatching +DOID:4751 striatonigral degeneration oboInOwl:hasDbXref ICD10CM:G23.2 semapv:UnspecifiedMatching +DOID:4751 striatonigral degeneration oboInOwl:hasDbXref OMIM:271930 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref GARD:7079 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref MESH:D012791 semapv:UnspecifiedMatching DOID:4752 multiple system atrophy oboInOwl:hasDbXref MESH:D019578 semapv:UnspecifiedMatching @@ -25247,27 +25272,27 @@ DOID:4767 classic pulmonary blastoma oboInOwl:hasDbXref NCI:C36054 semapv:Unspec DOID:4767 classic pulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1332556 semapv:UnspecifiedMatching DOID:4768 epithelial predominant pulmonary blastoma oboInOwl:hasDbXref NCI:C36053 semapv:UnspecifiedMatching DOID:4768 epithelial predominant pulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1333420 semapv:UnspecifiedMatching -DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1266144 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref ORDO:64742 semapv:UnspecifiedMatching +DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref UMLS_CUI:C1266144 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref NCI:C5669 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref ICDO:8973/3 semapv:UnspecifiedMatching -DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref MESH:C537516 semapv:UnspecifiedMatching DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref GARD:8757 semapv:UnspecifiedMatching +DOID:4769 pleuropulmonary blastoma oboInOwl:hasDbXref MESH:C537516 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref GARD:1493 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref MESH:D018201 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C6569 semapv:UnspecifiedMatching DOID:4773 congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS_CUI:C1332965 semapv:UnspecifiedMatching DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref ICD10CM:N01 semapv:UnspecifiedMatching -DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0221239 semapv:UnspecifiedMatching DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref NCI:C35264 semapv:UnspecifiedMatching +DOID:4776 rapidly progressive glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0221239 semapv:UnspecifiedMatching DOID:4777 exudative glomerulonephritis oboInOwl:hasDbXref NCI:C35706 semapv:UnspecifiedMatching DOID:4777 exudative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0546345 semapv:UnspecifiedMatching DOID:4778 proliferative glomerulonephritis oboInOwl:hasDbXref NCI:C35281 semapv:UnspecifiedMatching DOID:4778 proliferative glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0235618 semapv:UnspecifiedMatching DOID:4779 focal embolic glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0238143 semapv:UnspecifiedMatching DOID:4779 focal embolic glomerulonephritis oboInOwl:hasDbXref NCI:C35707 semapv:UnspecifiedMatching -DOID:4780 anti-basement membrane glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C1332309 semapv:UnspecifiedMatching DOID:4780 anti-basement membrane glomerulonephritis oboInOwl:hasDbXref NCI:C35798 semapv:UnspecifiedMatching +DOID:4780 anti-basement membrane glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C1332309 semapv:UnspecifiedMatching DOID:4781 diffuse glomerulonephritis oboInOwl:hasDbXref NCI:C35799 semapv:UnspecifiedMatching DOID:4781 diffuse glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0859036 semapv:UnspecifiedMatching DOID:4782 subacute glomerulonephritis oboInOwl:hasDbXref NCI:C35801 semapv:UnspecifiedMatching @@ -25279,29 +25304,29 @@ DOID:4784 immune-complex glomerulonephritis oboInOwl:hasDbXref NCI:C35800 semapv DOID:4784 immune-complex glomerulonephritis oboInOwl:hasDbXref UMLS_CUI:C0744421 semapv:UnspecifiedMatching DOID:4787 cerebellopontine angle primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C5436 semapv:UnspecifiedMatching DOID:4787 cerebellopontine angle primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1332904 semapv:UnspecifiedMatching -DOID:4788 intracranial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C5817 semapv:UnspecifiedMatching DOID:4788 intracranial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1334246 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C0346075 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C0002985 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref NCI:C4488 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref NCI:C2874 semapv:UnspecifiedMatching -DOID:479 angiokeratoma oboInOwl:hasDbXref MESH:D000794 semapv:UnspecifiedMatching +DOID:4788 intracranial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C5817 semapv:UnspecifiedMatching DOID:479 angiokeratoma oboInOwl:hasDbXref ICDO:9141/0 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref MESH:D000794 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref NCI:C2874 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref NCI:C4488 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C0002985 semapv:UnspecifiedMatching +DOID:479 angiokeratoma oboInOwl:hasDbXref UMLS_CUI:C0346075 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref ICDO:9501/3 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref NCI:C66808 semapv:UnspecifiedMatching DOID:4790 medulloepithelioma oboInOwl:hasDbXref UMLS_CUI:C0334596 semapv:UnspecifiedMatching -DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1336538 semapv:UnspecifiedMatching -DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C6968 semapv:UnspecifiedMatching DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref GARD:7366 semapv:UnspecifiedMatching -DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref MESH:D049290 semapv:UnspecifiedMatching -DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref NCI:C133084 semapv:UnspecifiedMatching -DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching +DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C6968 semapv:UnspecifiedMatching +DOID:4791 supratentorial primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C1336538 semapv:UnspecifiedMatching DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS_CUI:C0268275 semapv:UnspecifiedMatching +DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching +DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref NCI:C133084 semapv:UnspecifiedMatching +DOID:4795 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref MESH:D049290 semapv:UnspecifiedMatching DOID:4796 space motion sickness oboInOwl:hasDbXref MESH:D018489 semapv:UnspecifiedMatching DOID:4796 space motion sickness oboInOwl:hasDbXref UMLS_CUI:C0242700 semapv:UnspecifiedMatching -DOID:4797 SM-AHNMD oboInOwl:hasDbXref UMLS_CUI:C1301365 semapv:UnspecifiedMatching DOID:4797 SM-AHNMD oboInOwl:hasDbXref NCI:C9284 semapv:UnspecifiedMatching +DOID:4797 SM-AHNMD oboInOwl:hasDbXref UMLS_CUI:C1301365 semapv:UnspecifiedMatching DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref ICD10CM:C96.21 semapv:UnspecifiedMatching DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref MESH:D034721 semapv:UnspecifiedMatching DOID:4798 aggressive systemic mastocytosis oboInOwl:hasDbXref NCI:C9285 semapv:UnspecifiedMatching @@ -25310,59 +25335,59 @@ DOID:48 male reproductive system disease oboInOwl:hasDbXref ICD10CM:N50.9 semapv DOID:48 male reproductive system disease oboInOwl:hasDbXref ICD9CM:608.9 semapv:UnspecifiedMatching DOID:48 male reproductive system disease oboInOwl:hasDbXref MESH:D005832 semapv:UnspecifiedMatching DOID:48 male reproductive system disease oboInOwl:hasDbXref UMLS_CUI:C0017412 semapv:UnspecifiedMatching -DOID:480 movement disease oboInOwl:hasDbXref MESH:D009069 semapv:UnspecifiedMatching -DOID:480 movement disease oboInOwl:hasDbXref NCI:C116757 semapv:UnspecifiedMatching DOID:480 movement disease oboInOwl:hasDbXref UMLS_CUI:C0026650 semapv:UnspecifiedMatching +DOID:480 movement disease oboInOwl:hasDbXref NCI:C116757 semapv:UnspecifiedMatching +DOID:480 movement disease oboInOwl:hasDbXref MESH:D009069 semapv:UnspecifiedMatching DOID:481 obsolete central nervous system hereditary degenerative disease oboInOwl:hasDbXref UMLS_CUI:C0014887 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS_CUI:C0238052 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref ORDO:909 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching -DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref GARD:5622 semapv:UnspecifiedMatching +DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref MESH:D019294 semapv:UnspecifiedMatching DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref NCI:C84628 semapv:UnspecifiedMatching +DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref OMIM:213700 semapv:UnspecifiedMatching +DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref ORDO:909 semapv:UnspecifiedMatching +DOID:4810 cerebrotendinous xanthomatosis oboInOwl:hasDbXref UMLS_CUI:C0238052 semapv:UnspecifiedMatching DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref NCI:C9370 semapv:UnspecifiedMatching DOID:4812 adult brainstem gliosarcoma oboInOwl:hasDbXref UMLS_CUI:C1377914 semapv:UnspecifiedMatching DOID:4813 adult brain stem glioma oboInOwl:hasDbXref NCI:C9091 semapv:UnspecifiedMatching DOID:4813 adult brain stem glioma oboInOwl:hasDbXref UMLS_CUI:C0278873 semapv:UnspecifiedMatching -DOID:4817 ganglioneuroma oboInOwl:hasDbXref ICDO:9490/0 semapv:UnspecifiedMatching +DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C1513025 semapv:UnspecifiedMatching +DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C0017075 semapv:UnspecifiedMatching +DOID:4817 ganglioneuroma oboInOwl:hasDbXref NCI:C42065 semapv:UnspecifiedMatching DOID:4817 ganglioneuroma oboInOwl:hasDbXref MESH:D005729 semapv:UnspecifiedMatching +DOID:4817 ganglioneuroma oboInOwl:hasDbXref ICDO:9490/0 semapv:UnspecifiedMatching DOID:4817 ganglioneuroma oboInOwl:hasDbXref NCI:C3049 semapv:UnspecifiedMatching -DOID:4817 ganglioneuroma oboInOwl:hasDbXref NCI:C42065 semapv:UnspecifiedMatching -DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C0017075 semapv:UnspecifiedMatching -DOID:4817 ganglioneuroma oboInOwl:hasDbXref UMLS_CUI:C1513025 semapv:UnspecifiedMatching -DOID:482 hemangioma of peripheral nerve oboInOwl:hasDbXref UMLS_CUI:C1333956 semapv:UnspecifiedMatching DOID:482 hemangioma of peripheral nerve oboInOwl:hasDbXref NCI:C27507 semapv:UnspecifiedMatching -DOID:4829 adenosquamous lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279557 semapv:UnspecifiedMatching +DOID:482 hemangioma of peripheral nerve oboInOwl:hasDbXref UMLS_CUI:C1333956 semapv:UnspecifiedMatching DOID:4829 adenosquamous lung carcinoma oboInOwl:hasDbXref NCI:C9133 semapv:UnspecifiedMatching -DOID:483 cavernous hemangioma oboInOwl:hasDbXref ICD10CM:D18.0 semapv:UnspecifiedMatching +DOID:4829 adenosquamous lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279557 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref ICDO:9121/0 semapv:UnspecifiedMatching +DOID:483 cavernous hemangioma oboInOwl:hasDbXref ICD10CM:D18.0 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref MESH:D006392 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref NCI:C3086 semapv:UnspecifiedMatching DOID:483 cavernous hemangioma oboInOwl:hasDbXref UMLS_CUI:C0018920 semapv:UnspecifiedMatching -DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref ICDO:8560/3 semapv:UnspecifiedMatching -DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref MESH:D018196 semapv:UnspecifiedMatching DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref NCI:C3727 semapv:UnspecifiedMatching DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206623 semapv:UnspecifiedMatching +DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref ICDO:8560/3 semapv:UnspecifiedMatching +DOID:4830 adenosquamous carcinoma oboInOwl:hasDbXref MESH:D018196 semapv:UnspecifiedMatching +DOID:4837 Gorham's disease oboInOwl:hasDbXref UMLS_CUI:C0029436 semapv:UnspecifiedMatching DOID:4837 Gorham's disease oboInOwl:hasDbXref GARD:6542 semapv:UnspecifiedMatching DOID:4837 Gorham's disease oboInOwl:hasDbXref MESH:D010015 semapv:UnspecifiedMatching -DOID:4837 Gorham's disease oboInOwl:hasDbXref UMLS_CUI:C0029436 semapv:UnspecifiedMatching -DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334699 semapv:UnspecifiedMatching -DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref ICDO:8982/3 semapv:UnspecifiedMatching DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref GARD:10558 semapv:UnspecifiedMatching +DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref ICDO:8982/3 semapv:UnspecifiedMatching DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref NCI:C7596 semapv:UnspecifiedMatching +DOID:4838 myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334699 semapv:UnspecifiedMatching DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref MESH:D018266 semapv:UnspecifiedMatching DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref NCI:C40310 semapv:UnspecifiedMatching DOID:4839 sebaceous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206684 semapv:UnspecifiedMatching DOID:484 vascular hemostatic disease oboInOwl:hasDbXref MESH:D020141 semapv:UnspecifiedMatching DOID:484 vascular hemostatic disease oboInOwl:hasDbXref UMLS_CUI:C0600502 semapv:UnspecifiedMatching +DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1382026 semapv:UnspecifiedMatching DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref ICD10CM:C44 semapv:UnspecifiedMatching DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref ICDO:8410/3 semapv:UnspecifiedMatching DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref NCI:C8409 semapv:UnspecifiedMatching -DOID:4840 sebaceous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1382026 semapv:UnspecifiedMatching DOID:4843 subependymal glioma oboInOwl:hasDbXref UMLS_CUI:C0206725 semapv:UnspecifiedMatching DOID:4843 subependymal glioma oboInOwl:hasDbXref NCI:C3795 semapv:UnspecifiedMatching -DOID:4843 subependymal glioma oboInOwl:hasDbXref ICDO:9383/1 semapv:UnspecifiedMatching DOID:4843 subependymal glioma oboInOwl:hasDbXref MESH:D018315 semapv:UnspecifiedMatching +DOID:4843 subependymal glioma oboInOwl:hasDbXref ICDO:9383/1 semapv:UnspecifiedMatching DOID:4844 benign ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:4844 benign ependymoma oboInOwl:hasDbXref NCI:C3017 semapv:UnspecifiedMatching DOID:4844 benign ependymoma oboInOwl:hasDbXref UMLS_CUI:C0014474 semapv:UnspecifiedMatching @@ -25373,13 +25398,13 @@ DOID:4846 cauda equina intradural extramedullary astrocytoma oboInOwl:hasDbXref DOID:4846 cauda equina intradural extramedullary astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1334254 semapv:UnspecifiedMatching DOID:4847 cauda equina neoplasm oboInOwl:hasDbXref NCI:C5479 semapv:UnspecifiedMatching DOID:4847 cauda equina neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263892 semapv:UnspecifiedMatching -DOID:4848 cerebellar astrocytoma oboInOwl:hasDbXref NCI:C9475 semapv:UnspecifiedMatching DOID:4848 cerebellar astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0740480 semapv:UnspecifiedMatching +DOID:4848 cerebellar astrocytoma oboInOwl:hasDbXref NCI:C9475 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334583 semapv:UnspecifiedMatching -DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref NCI:C4047 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref GARD:9808 semapv:UnspecifiedMatching DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref ICDO:9421/1 semapv:UnspecifiedMatching +DOID:4851 pilocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref ICDO:9424/3 semapv:UnspecifiedMatching DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref NCI:C4323 semapv:UnspecifiedMatching DOID:4852 pleomorphic xanthoastrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334586 semapv:UnspecifiedMatching @@ -25391,8 +25416,8 @@ DOID:4856 gliofibroma oboInOwl:hasDbXref ICDO:9442/1 semapv:UnspecifiedMatching DOID:4856 gliofibroma oboInOwl:hasDbXref NCI:C5419 semapv:UnspecifiedMatching DOID:4856 gliofibroma oboInOwl:hasDbXref UMLS_CUI:C1266178 semapv:UnspecifiedMatching DOID:4857 diffuse astrocytoma oboInOwl:hasDbXref NCI:C7173 semapv:UnspecifiedMatching -DOID:4858 pineal gland astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280795 semapv:UnspecifiedMatching DOID:4858 pineal gland astrocytoma oboInOwl:hasDbXref NCI:C8274 semapv:UnspecifiedMatching +DOID:4858 pineal gland astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280795 semapv:UnspecifiedMatching DOID:486 glomeruloid hemangioma oboInOwl:hasDbXref NCI:C27505 semapv:UnspecifiedMatching DOID:486 glomeruloid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1304511 semapv:UnspecifiedMatching DOID:4860 brain stem astrocytic neoplasm oboInOwl:hasDbXref NCI:C7445 semapv:UnspecifiedMatching @@ -25408,12 +25433,12 @@ DOID:4868 prostate adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5539 semapv: DOID:4868 prostate adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335502 semapv:UnspecifiedMatching DOID:4869 laryngeal adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C9462 semapv:UnspecifiedMatching DOID:4869 laryngeal adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334368 semapv:UnspecifiedMatching -DOID:4870 lacrimal gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C4540 semapv:UnspecifiedMatching DOID:4870 lacrimal gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346340 semapv:UnspecifiedMatching +DOID:4870 lacrimal gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C4540 semapv:UnspecifiedMatching DOID:4871 cutaneous adenocystic carcinoma oboInOwl:hasDbXref NCI:C4471 semapv:UnspecifiedMatching DOID:4871 cutaneous adenocystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346017 semapv:UnspecifiedMatching -DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334439 semapv:UnspecifiedMatching DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5666 semapv:UnspecifiedMatching +DOID:4872 lung adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334439 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref ICD9CM:335 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref MESH:D016472 semapv:UnspecifiedMatching DOID:4873 anterior horn cell disease oboInOwl:hasDbXref UMLS_CUI:C0154681 semapv:UnspecifiedMatching @@ -25424,11 +25449,11 @@ DOID:4877 breast adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5130 semapv:Un DOID:4877 breast adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332167 semapv:UnspecifiedMatching DOID:4878 esophageal adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C5342 semapv:UnspecifiedMatching DOID:4878 esophageal adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333441 semapv:UnspecifiedMatching -DOID:4879 Bartholin's gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C40295 semapv:UnspecifiedMatching DOID:4879 Bartholin's gland adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511047 semapv:UnspecifiedMatching -DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334488 semapv:UnspecifiedMatching +DOID:4879 Bartholin's gland adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C40295 semapv:UnspecifiedMatching DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref NCI:C4264 semapv:UnspecifiedMatching DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref ORDO:457246 semapv:UnspecifiedMatching +DOID:4880 kidney clear cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334488 semapv:UnspecifiedMatching DOID:4885 Colorado tick fever oboInOwl:hasDbXref ICD10CM:A93.2 semapv:UnspecifiedMatching DOID:4885 Colorado tick fever oboInOwl:hasDbXref MESH:D003121 semapv:UnspecifiedMatching DOID:4885 Colorado tick fever oboInOwl:hasDbXref UMLS_CUI:C0009400 semapv:UnspecifiedMatching @@ -25438,13 +25463,13 @@ DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref MESH:D018601 semapv:Unspeci DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref NCI:C26896 semapv:UnspecifiedMatching DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041316 semapv:UnspecifiedMatching DOID:4889 lymph node tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0242830 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:307 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref UMLS_CUI:C0270853 semapv:UnspecifiedMatching +DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching +DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref ORDO:307 semapv:UnspecifiedMatching +DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref NCI:C84796 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref MESH:D020190 semapv:UnspecifiedMatching DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref GARD:6808 semapv:UnspecifiedMatching -DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref NCI:C84796 semapv:UnspecifiedMatching +DOID:4890 juvenile myoclonic epilepsy oboInOwl:hasDbXref OMIM:254770 semapv:UnspecifiedMatching DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref NCI:C6848 semapv:UnspecifiedMatching DOID:4892 middle ear adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334758 semapv:UnspecifiedMatching DOID:4893 middle ear carcinoma oboInOwl:hasDbXref NCI:C6089 semapv:UnspecifiedMatching @@ -25453,32 +25478,32 @@ DOID:4894 rete ovarii adenocarcinoma oboInOwl:hasDbXref NCI:C40017 semapv:Unspec DOID:4894 rete ovarii adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C3840223 semapv:UnspecifiedMatching DOID:4895 rete ovarii benign neoplasm oboInOwl:hasDbXref NCI:C40016 semapv:UnspecifiedMatching DOID:4895 rete ovarii benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1514909 semapv:UnspecifiedMatching -DOID:4896 bile duct adenocarcinoma oboInOwl:hasDbXref NCI:C27813 semapv:UnspecifiedMatching DOID:4896 bile duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1370800 semapv:UnspecifiedMatching -DOID:4897 bile duct carcinoma oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching -DOID:4897 bile duct carcinoma oboInOwl:hasDbXref NCI:C27814 semapv:UnspecifiedMatching +DOID:4896 bile duct adenocarcinoma oboInOwl:hasDbXref NCI:C27813 semapv:UnspecifiedMatching DOID:4897 bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0740277 semapv:UnspecifiedMatching -DOID:4901 peritoneal serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1514429 semapv:UnspecifiedMatching +DOID:4897 bile duct carcinoma oboInOwl:hasDbXref NCI:C27814 semapv:UnspecifiedMatching +DOID:4897 bile duct carcinoma oboInOwl:hasDbXref MESH:D001650 semapv:UnspecifiedMatching DOID:4901 peritoneal serous adenocarcinoma oboInOwl:hasDbXref NCI:C40023 semapv:UnspecifiedMatching +DOID:4901 peritoneal serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1514429 semapv:UnspecifiedMatching DOID:4902 appendix carcinoma oboInOwl:hasDbXref NCI:C9330 semapv:UnspecifiedMatching DOID:4902 appendix carcinoma oboInOwl:hasDbXref UMLS_CUI:C0728951 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref ICDO:8320/3 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref NCI:C3681 semapv:UnspecifiedMatching DOID:4903 granular cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0205644 semapv:UnspecifiedMatching -DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref MESH:C562463 semapv:UnspecifiedMatching -DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref EFO:0002618 semapv:UnspecifiedMatching -DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref NCI:C3850 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref OMIM:260350 semapv:UnspecifiedMatching +DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref NCI:C3850 semapv:UnspecifiedMatching DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0235974 semapv:UnspecifiedMatching -DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref GARD:13090 semapv:UnspecifiedMatching -DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref NCI:C7888 semapv:UnspecifiedMatching +DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref EFO:0002618 semapv:UnspecifiedMatching +DOID:4905 pancreatic carcinoma oboInOwl:hasDbXref MESH:C562463 semapv:UnspecifiedMatching DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0278803 semapv:UnspecifiedMatching -DOID:4907 small intestine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238196 semapv:UnspecifiedMatching +DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref NCI:C7888 semapv:UnspecifiedMatching +DOID:4906 small intestine adenocarcinoma oboInOwl:hasDbXref GARD:13090 semapv:UnspecifiedMatching DOID:4907 small intestine carcinoma oboInOwl:hasDbXref NCI:C7724 semapv:UnspecifiedMatching -DOID:4908 anal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279637 semapv:UnspecifiedMatching +DOID:4907 small intestine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238196 semapv:UnspecifiedMatching DOID:4908 anal carcinoma oboInOwl:hasDbXref MESH:D001005 semapv:UnspecifiedMatching DOID:4908 anal carcinoma oboInOwl:hasDbXref NCI:C9291 semapv:UnspecifiedMatching +DOID:4908 anal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279637 semapv:UnspecifiedMatching DOID:4910 urethra adenocarcinoma oboInOwl:hasDbXref NCI:C6167 semapv:UnspecifiedMatching DOID:4910 urethra adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336885 semapv:UnspecifiedMatching DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref MESH:C562730 semapv:UnspecifiedMatching @@ -25486,13 +25511,13 @@ DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref NCI:C4025 semapv:Unspecifi DOID:4914 esophagus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279628 semapv:UnspecifiedMatching DOID:4915 basophilic adenocarcinoma oboInOwl:hasDbXref NCI:C4150 semapv:UnspecifiedMatching DOID:4915 basophilic adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334314 semapv:UnspecifiedMatching -DOID:4916 pituitary carcinoma oboInOwl:hasDbXref ICDO:8272/3 semapv:UnspecifiedMatching -DOID:4916 pituitary carcinoma oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching -DOID:4916 pituitary carcinoma oboInOwl:hasDbXref NCI:C4536 semapv:UnspecifiedMatching DOID:4916 pituitary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346300 semapv:UnspecifiedMatching +DOID:4916 pituitary carcinoma oboInOwl:hasDbXref NCI:C4536 semapv:UnspecifiedMatching +DOID:4916 pituitary carcinoma oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching +DOID:4916 pituitary carcinoma oboInOwl:hasDbXref ICDO:8272/3 semapv:UnspecifiedMatching +DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref ICDO:8262/3 semapv:UnspecifiedMatching DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref NCI:C4142 semapv:UnspecifiedMatching DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334306 semapv:UnspecifiedMatching -DOID:4917 villous adenocarcinoma oboInOwl:hasDbXref ICDO:8262/3 semapv:UnspecifiedMatching DOID:4918 renal pelvis adenocarcinoma oboInOwl:hasDbXref NCI:C6143 semapv:UnspecifiedMatching DOID:4918 renal pelvis adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335748 semapv:UnspecifiedMatching DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref ICD10CM:C65 semapv:UnspecifiedMatching @@ -25503,77 +25528,77 @@ DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153618 semapv:Uns DOID:4919 renal pelvis carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335749 semapv:UnspecifiedMatching DOID:492 acquired hemangioma oboInOwl:hasDbXref NCI:C27018 semapv:UnspecifiedMatching DOID:492 acquired hemangioma oboInOwl:hasDbXref UMLS_CUI:C0856897 semapv:UnspecifiedMatching -DOID:4920 eccrine adenocarcinoma oboInOwl:hasDbXref ICDO:8413/3 semapv:UnspecifiedMatching DOID:4920 eccrine adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266066 semapv:UnspecifiedMatching -DOID:4921 eccrine sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1334577 semapv:UnspecifiedMatching +DOID:4920 eccrine adenocarcinoma oboInOwl:hasDbXref ICDO:8413/3 semapv:UnspecifiedMatching DOID:4921 eccrine sweat gland cancer oboInOwl:hasDbXref NCI:C5559 semapv:UnspecifiedMatching -DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334371 semapv:UnspecifiedMatching +DOID:4921 eccrine sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1334577 semapv:UnspecifiedMatching DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref MESH:C537535 semapv:UnspecifiedMatching DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref NCI:C4189 semapv:UnspecifiedMatching +DOID:4922 breast secretory carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334371 semapv:UnspecifiedMatching DOID:4923 thymus adenocarcinoma oboInOwl:hasDbXref NCI:C6459 semapv:UnspecifiedMatching DOID:4923 thymus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336743 semapv:UnspecifiedMatching DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref MESH:D002282 semapv:UnspecifiedMatching DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref NCI:C2923 semapv:UnspecifiedMatching DOID:4926 bronchiolo-alveolar adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0007120 semapv:UnspecifiedMatching -DOID:4927 Klatskin's tumor oboInOwl:hasDbXref GARD:10175 semapv:UnspecifiedMatching -DOID:4927 Klatskin's tumor oboInOwl:hasDbXref MESH:D018285 semapv:UnspecifiedMatching DOID:4927 Klatskin's tumor oboInOwl:hasDbXref NCI:C36077 semapv:UnspecifiedMatching DOID:4927 Klatskin's tumor oboInOwl:hasDbXref UMLS_CUI:C0206702 semapv:UnspecifiedMatching +DOID:4927 Klatskin's tumor oboInOwl:hasDbXref GARD:10175 semapv:UnspecifiedMatching +DOID:4927 Klatskin's tumor oboInOwl:hasDbXref MESH:D018285 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0345905 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C35417 semapv:UnspecifiedMatching -DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching -DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref ICD10CM:C22.1 semapv:UnspecifiedMatching DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref GARD:6042 semapv:UnspecifiedMatching +DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref ICD10CM:C22.1 semapv:UnspecifiedMatching +DOID:4928 intrahepatic cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref ICDO:8211/3 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref NCI:C65192 semapv:UnspecifiedMatching DOID:4929 tubular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0205645 semapv:UnspecifiedMatching DOID:4930 nasal cavity adenocarcinoma oboInOwl:hasDbXref NCI:C6015 semapv:UnspecifiedMatching DOID:4930 nasal cavity adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334920 semapv:UnspecifiedMatching -DOID:4931 nasal cavity carcinoma oboInOwl:hasDbXref NCI:C9336 semapv:UnspecifiedMatching DOID:4931 nasal cavity carcinoma oboInOwl:hasDbXref UMLS_CUI:C1377785 semapv:UnspecifiedMatching -DOID:4932 ampulla of Vater carcinoma oboInOwl:hasDbXref NCI:C3908 semapv:UnspecifiedMatching +DOID:4931 nasal cavity carcinoma oboInOwl:hasDbXref NCI:C9336 semapv:UnspecifiedMatching DOID:4932 ampulla of Vater carcinoma oboInOwl:hasDbXref UMLS_CUI:C0262401 semapv:UnspecifiedMatching -DOID:4933 apocrine carcinoma oboInOwl:hasDbXref ICDO:8401/3 semapv:UnspecifiedMatching +DOID:4932 ampulla of Vater carcinoma oboInOwl:hasDbXref NCI:C3908 semapv:UnspecifiedMatching +DOID:4933 apocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334346 semapv:UnspecifiedMatching DOID:4933 apocrine carcinoma oboInOwl:hasDbXref NCI:C4169 semapv:UnspecifiedMatching +DOID:4933 apocrine carcinoma oboInOwl:hasDbXref ICDO:8401/3 semapv:UnspecifiedMatching DOID:4933 apocrine carcinoma oboInOwl:hasDbXref GARD:12138 semapv:UnspecifiedMatching -DOID:4933 apocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334346 semapv:UnspecifiedMatching -DOID:4934 apocrine sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1334561 semapv:UnspecifiedMatching DOID:4934 apocrine sweat gland cancer oboInOwl:hasDbXref NCI:C6800 semapv:UnspecifiedMatching -DOID:4938 ureter adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336873 semapv:UnspecifiedMatching +DOID:4934 apocrine sweat gland cancer oboInOwl:hasDbXref UMLS_CUI:C1334561 semapv:UnspecifiedMatching DOID:4938 ureter adenocarcinoma oboInOwl:hasDbXref NCI:C6155 semapv:UnspecifiedMatching +DOID:4938 ureter adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336873 semapv:UnspecifiedMatching DOID:4939 ureter carcinoma oboInOwl:hasDbXref NCI:C8993 semapv:UnspecifiedMatching DOID:4939 ureter carcinoma oboInOwl:hasDbXref UMLS_CUI:C0600079 semapv:UnspecifiedMatching -DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref ICDO:8140/2 semapv:UnspecifiedMatching +DOID:4943 adenocarcinoma in situ skos:exactMatch MESH:D065311 semapv:UnspecifiedMatching +DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0334276 semapv:UnspecifiedMatching DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref MESH:D065311 semapv:UnspecifiedMatching +DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref ICDO:8140/2 semapv:UnspecifiedMatching DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref NCI:C4123 semapv:UnspecifiedMatching -DOID:4943 adenocarcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0334276 semapv:UnspecifiedMatching -DOID:4943 adenocarcinoma in situ skos:exactMatch MESH:D065311 semapv:UnspecifiedMatching DOID:4944 gastroesophageal junction adenocarcinoma oboInOwl:hasDbXref NCI:C9296 semapv:UnspecifiedMatching DOID:4944 gastroesophageal junction adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332166 semapv:UnspecifiedMatching +DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206698 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0280725 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref NCI:C8265 semapv:UnspecifiedMatching -DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref NCI:C4436 semapv:UnspecifiedMatching -DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0206698 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref ICDO:8160/3 semapv:UnspecifiedMatching -DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref ICD10CM:C22.1 semapv:UnspecifiedMatching DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref MESH:D018281 semapv:UnspecifiedMatching +DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref ICD10CM:C22.1 semapv:UnspecifiedMatching +DOID:4947 cholangiocarcinoma oboInOwl:hasDbXref NCI:C4436 semapv:UnspecifiedMatching DOID:4948 gallbladder carcinoma oboInOwl:hasDbXref NCI:C3844 semapv:UnspecifiedMatching DOID:4948 gallbladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C0235782 semapv:UnspecifiedMatching DOID:495 sclerosing hemangioma oboInOwl:hasDbXref UMLS_CUI:C1509148 semapv:UnspecifiedMatching -DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS_CUI:C0080040 semapv:UnspecifiedMatching -DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref MESH:D016262 semapv:UnspecifiedMatching DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref GARD:4454 semapv:UnspecifiedMatching DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref ICD10CM:G14 semapv:UnspecifiedMatching +DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref MESH:D016262 semapv:UnspecifiedMatching +DOID:4952 postpoliomyelitis syndrome oboInOwl:hasDbXref UMLS_CUI:C0080040 semapv:UnspecifiedMatching +DOID:4953 poliomyelitis oboInOwl:hasDbXref NCI:C35550 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref UMLS_CUI:C0032371 semapv:UnspecifiedMatching +DOID:4953 poliomyelitis oboInOwl:hasDbXref ICD9CM:045 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref GARD:7413 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref ICD10CM:A80 semapv:UnspecifiedMatching -DOID:4953 poliomyelitis oboInOwl:hasDbXref ICD9CM:045 semapv:UnspecifiedMatching DOID:4953 poliomyelitis oboInOwl:hasDbXref MESH:D011051 semapv:UnspecifiedMatching -DOID:4953 poliomyelitis oboInOwl:hasDbXref NCI:C35550 semapv:UnspecifiedMatching +DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref NCI:C5504 semapv:UnspecifiedMatching DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0349623 semapv:UnspecifiedMatching DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332887 semapv:UnspecifiedMatching -DOID:4955 central nervous system melanocytic neoplasm oboInOwl:hasDbXref NCI:C5504 semapv:UnspecifiedMatching DOID:4957 meninges hemangiopericytoma oboInOwl:hasDbXref NCI:C4660 semapv:UnspecifiedMatching DOID:4957 meninges hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0349622 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref GARD:2150 semapv:UnspecifiedMatching @@ -25581,66 +25606,66 @@ DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref ICD10CM:Q81.2 sem DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref MESH:D016108 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref NCI:C84691 semapv:UnspecifiedMatching DOID:4959 epidermolysis bullosa dystrophica oboInOwl:hasDbXref UMLS_CUI:C0079294 semapv:UnspecifiedMatching -DOID:496 spindle cell hemangioma oboInOwl:hasDbXref NCI:C4754 semapv:UnspecifiedMatching DOID:496 spindle cell hemangioma oboInOwl:hasDbXref UMLS_CUI:C1304508 semapv:UnspecifiedMatching +DOID:496 spindle cell hemangioma oboInOwl:hasDbXref NCI:C4754 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref EFO:0004251 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref ICD10CM:D47.1 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref MESH:D009196 semapv:UnspecifiedMatching DOID:4960 bone marrow cancer oboInOwl:hasDbXref UMLS_CUI:C0027022 semapv:UnspecifiedMatching -DOID:4961 bone marrow disease oboInOwl:hasDbXref UMLS_CUI:C0005956 semapv:UnspecifiedMatching -DOID:4961 bone marrow disease oboInOwl:hasDbXref NCI:C34433 semapv:UnspecifiedMatching DOID:4961 bone marrow disease oboInOwl:hasDbXref MESH:D001855 semapv:UnspecifiedMatching +DOID:4961 bone marrow disease oboInOwl:hasDbXref NCI:C34433 semapv:UnspecifiedMatching +DOID:4961 bone marrow disease oboInOwl:hasDbXref UMLS_CUI:C0005956 semapv:UnspecifiedMatching DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref ICD10CM:A18.84 semapv:UnspecifiedMatching DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref MESH:D010495 semapv:UnspecifiedMatching DOID:4962 pericardial tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0031049 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref ICD10CM:F48.9 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D000275 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0011579 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D003866 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D009497 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C34533 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C34848 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0282126 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C35369 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0011579 semapv:UnspecifiedMatching DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0027932 semapv:UnspecifiedMatching -DOID:4964 neurotic disorder oboInOwl:hasDbXref UMLS_CUI:C0282126 semapv:UnspecifiedMatching -DOID:4968 Nelson syndrome oboInOwl:hasDbXref UMLS_CUI:C0027577 semapv:UnspecifiedMatching -DOID:4968 Nelson syndrome oboInOwl:hasDbXref NCI:C84917 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C34848 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D000275 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref MESH:D009497 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref NCI:C34533 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref ICD10CM:F48.9 semapv:UnspecifiedMatching +DOID:4964 neurotic disorder oboInOwl:hasDbXref ICD10CM:F34.1 semapv:UnspecifiedMatching +DOID:4968 Nelson syndrome oboInOwl:hasDbXref GARD:7170 semapv:UnspecifiedMatching DOID:4968 Nelson syndrome oboInOwl:hasDbXref ICD10CM:E24.1 semapv:UnspecifiedMatching DOID:4968 Nelson syndrome oboInOwl:hasDbXref MESH:D009347 semapv:UnspecifiedMatching -DOID:4968 Nelson syndrome oboInOwl:hasDbXref GARD:7170 semapv:UnspecifiedMatching -DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref GARD:8660 semapv:UnspecifiedMatching -DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref MEDDRA:10048608 semapv:UnspecifiedMatching -DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 semapv:UnspecifiedMatching -DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref ORDO:221117 semapv:UnspecifiedMatching +DOID:4968 Nelson syndrome oboInOwl:hasDbXref NCI:C84917 semapv:UnspecifiedMatching +DOID:4968 Nelson syndrome oboInOwl:hasDbXref UMLS_CUI:C0027577 semapv:UnspecifiedMatching DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref UMLS_CUI:C0017494 semapv:UnspecifiedMatching +DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref ORDO:221117 semapv:UnspecifiedMatching +DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref MESH:D005862 semapv:UnspecifiedMatching +DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref MEDDRA:10048608 semapv:UnspecifiedMatching +DOID:4969 Gerstmann syndrome oboInOwl:hasDbXref GARD:8660 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref ICD10CM:R48.3 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref MESH:D020238 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref NCI:C85031 semapv:UnspecifiedMatching DOID:4970 prosopagnosia oboInOwl:hasDbXref UMLS_CUI:C0234512 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C0026987 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C0001815 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref OMIM:254450 semapv:UnspecifiedMatching +DOID:4971 myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C0026987 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref NCI:C3248 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref NCI:C2862 semapv:UnspecifiedMatching +DOID:4971 myelofibrosis oboInOwl:hasDbXref MESH:D055728 semapv:UnspecifiedMatching +DOID:4971 myelofibrosis oboInOwl:hasDbXref OMIM:254450 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD9CM:238.76 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD9CM:289.83 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD10CM:D75.81 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD10CM:D47.4 semapv:UnspecifiedMatching DOID:4971 myelofibrosis oboInOwl:hasDbXref GARD:8618 semapv:UnspecifiedMatching -DOID:4971 myelofibrosis oboInOwl:hasDbXref MESH:D055728 semapv:UnspecifiedMatching +DOID:4971 myelofibrosis oboInOwl:hasDbXref ICD9CM:289.83 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref MESH:D054437 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref NCI:C27262 semapv:UnspecifiedMatching DOID:4972 myelodysplastic/myeloproliferative neoplasm oboInOwl:hasDbXref UMLS_CUI:C1301355 semapv:UnspecifiedMatching -DOID:4974 actinobacillosis skos:exactMatch MESH:D000187 semapv:UnspecifiedMatching DOID:4974 actinobacillosis oboInOwl:hasDbXref MESH:D000187 semapv:UnspecifiedMatching DOID:4974 actinobacillosis oboInOwl:hasDbXref UMLS_CUI:C0001247 semapv:UnspecifiedMatching -DOID:4976 elephantiasis oboInOwl:hasDbXref UMLS_CUI:C0013882 semapv:UnspecifiedMatching -DOID:4976 elephantiasis oboInOwl:hasDbXref NCI:C34569 semapv:UnspecifiedMatching +DOID:4974 actinobacillosis skos:exactMatch MESH:D000187 semapv:UnspecifiedMatching DOID:4976 elephantiasis oboInOwl:hasDbXref MESH:D004604 semapv:UnspecifiedMatching +DOID:4976 elephantiasis oboInOwl:hasDbXref NCI:C34569 semapv:UnspecifiedMatching +DOID:4976 elephantiasis oboInOwl:hasDbXref UMLS_CUI:C0013882 semapv:UnspecifiedMatching +DOID:4977 lymphedema oboInOwl:hasDbXref UMLS_CUI:C0024236 semapv:UnspecifiedMatching DOID:4977 lymphedema oboInOwl:hasDbXref MESH:D008209 semapv:UnspecifiedMatching DOID:4977 lymphedema oboInOwl:hasDbXref NCI:C3207 semapv:UnspecifiedMatching -DOID:4977 lymphedema oboInOwl:hasDbXref UMLS_CUI:C0024236 semapv:UnspecifiedMatching DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor oboInOwl:hasDbXref NCI:C7135 semapv:UnspecifiedMatching DOID:4985 extraosseous Ewings sarcoma-primitive neuroepithelial tumor oboInOwl:hasDbXref UMLS_CUI:C0279980 semapv:UnspecifiedMatching DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref ICD10CM:A80.4 semapv:UnspecifiedMatching @@ -25648,51 +25673,51 @@ DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref ICD9CM:045.2 semapv:Unsp DOID:4986 nonparalytic poliomyelitis oboInOwl:hasDbXref UMLS_CUI:C0152998 semapv:UnspecifiedMatching DOID:4988 alcoholic pancreatitis oboInOwl:hasDbXref MESH:D019512 semapv:UnspecifiedMatching DOID:4988 alcoholic pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0376670 semapv:UnspecifiedMatching -DOID:4989 pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0030305 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching -DOID:4989 pancreatitis oboInOwl:hasDbXref NCI:C3306 semapv:UnspecifiedMatching -DOID:4989 pancreatitis oboInOwl:hasDbXref ICD10CM:K85.9 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref EFO:0000278 semapv:UnspecifiedMatching +DOID:4989 pancreatitis oboInOwl:hasDbXref ICD10CM:K85.9 semapv:UnspecifiedMatching DOID:4989 pancreatitis oboInOwl:hasDbXref MESH:D010195 semapv:UnspecifiedMatching -DOID:4990 essential tremor oboInOwl:hasDbXref GARD:5910 semapv:UnspecifiedMatching -DOID:4990 essential tremor oboInOwl:hasDbXref ICD10CM:G25.0 semapv:UnspecifiedMatching -DOID:4990 essential tremor oboInOwl:hasDbXref MESH:D020329 semapv:UnspecifiedMatching -DOID:4990 essential tremor oboInOwl:hasDbXref NCI:C182453 semapv:UnspecifiedMatching +DOID:4989 pancreatitis oboInOwl:hasDbXref NCI:C3306 semapv:UnspecifiedMatching +DOID:4989 pancreatitis oboInOwl:hasDbXref UMLS_CUI:C0030305 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref OMIMPS:190300 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref ORDO:862 semapv:UnspecifiedMatching +DOID:4990 essential tremor oboInOwl:hasDbXref NCI:C182453 semapv:UnspecifiedMatching DOID:4990 essential tremor oboInOwl:hasDbXref UMLS_CUI:C0270736 semapv:UnspecifiedMatching +DOID:4990 essential tremor oboInOwl:hasDbXref ICD10CM:G25.0 semapv:UnspecifiedMatching +DOID:4990 essential tremor oboInOwl:hasDbXref GARD:5910 semapv:UnspecifiedMatching +DOID:4990 essential tremor oboInOwl:hasDbXref MESH:D020329 semapv:UnspecifiedMatching +DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1335114 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1336971 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref NCI:C6769 semapv:UnspecifiedMatching DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref NCI:C7533 semapv:UnspecifiedMatching -DOID:4991 optic nerve astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1335114 semapv:UnspecifiedMatching -DOID:4992 optic nerve glioma oboInOwl:hasDbXref MESH:D020339 semapv:UnspecifiedMatching +DOID:4992 optic nerve glioma oboInOwl:hasDbXref UMLS_CUI:C0346326 semapv:UnspecifiedMatching DOID:4992 optic nerve glioma oboInOwl:hasDbXref NCI:C4537 semapv:UnspecifiedMatching +DOID:4992 optic nerve glioma oboInOwl:hasDbXref MESH:D020339 semapv:UnspecifiedMatching DOID:4992 optic nerve glioma oboInOwl:hasDbXref GARD:4107 semapv:UnspecifiedMatching -DOID:4992 optic nerve glioma oboInOwl:hasDbXref UMLS_CUI:C0346326 semapv:UnspecifiedMatching DOID:4993 atypical polypoid adenomyoma oboInOwl:hasDbXref NCI:C6895 semapv:UnspecifiedMatching DOID:4993 atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1300347 semapv:UnspecifiedMatching -DOID:4994 adenomyoma of uterine corpus oboInOwl:hasDbXref UMLS_CUI:C1336903 semapv:UnspecifiedMatching DOID:4994 adenomyoma of uterine corpus oboInOwl:hasDbXref NCI:C6338 semapv:UnspecifiedMatching +DOID:4994 adenomyoma of uterine corpus oboInOwl:hasDbXref UMLS_CUI:C1336903 semapv:UnspecifiedMatching DOID:4995 cervical adenomyoma oboInOwl:hasDbXref NCI:C40231 semapv:UnspecifiedMatching DOID:4995 cervical adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1516404 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref UMLS_CUI:C0011989 semapv:UnspecifiedMatching -DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching -DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref NCI:C84610 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:606631 semapv:UnspecifiedMatching -DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10CM:Q78.3 semapv:UnspecifiedMatching +DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref OMIM:131300 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref GARD:1072 semapv:UnspecifiedMatching DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref MESH:D003966 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref GARD:7801 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref NCI:C75118 semapv:UnspecifiedMatching -DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref OMIM:150230 semapv:UnspecifiedMatching +DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref ICD10CM:Q78.3 semapv:UnspecifiedMatching +DOID:4997 Camurati-Engelmann disease oboInOwl:hasDbXref NCI:C84610 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref ORDO:502 semapv:UnspecifiedMatching DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref UMLS_CUI:C0023003 semapv:UnspecifiedMatching -DOID:50 thyroid gland disease oboInOwl:hasDbXref UMLS_CUI:C0040128 semapv:UnspecifiedMatching -DOID:50 thyroid gland disease oboInOwl:hasDbXref NCI:C26893 semapv:UnspecifiedMatching +DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref OMIM:150230 semapv:UnspecifiedMatching +DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref NCI:C75118 semapv:UnspecifiedMatching +DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref MESH:D015826 semapv:UnspecifiedMatching +DOID:4998 trichorhinophalangeal syndrome type II oboInOwl:hasDbXref GARD:7801 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref ICD10CM:E07.9 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref ICD9CM:246.9 semapv:UnspecifiedMatching DOID:50 thyroid gland disease oboInOwl:hasDbXref MESH:D013959 semapv:UnspecifiedMatching +DOID:50 thyroid gland disease oboInOwl:hasDbXref NCI:C26893 semapv:UnspecifiedMatching +DOID:50 thyroid gland disease oboInOwl:hasDbXref UMLS_CUI:C0040128 semapv:UnspecifiedMatching DOID:5003 eunuchism oboInOwl:hasDbXref MESH:D005058 semapv:UnspecifiedMatching DOID:5003 eunuchism oboInOwl:hasDbXref UMLS_CUI:C0238117 semapv:UnspecifiedMatching DOID:501 central nervous system hemangioma oboInOwl:hasDbXref NCI:C7004 semapv:UnspecifiedMatching @@ -25702,10 +25727,10 @@ DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref NCI:C4131 semapv:Unspecifie DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref ORDO:401920 semapv:UnspecifiedMatching DOID:5015 fibrolamellar carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334287 semapv:UnspecifiedMatching DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266020 semapv:UnspecifiedMatching -DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref ICDO:8174/3 semapv:UnspecifiedMatching DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref NCI:C5754 semapv:UnspecifiedMatching -DOID:5022 aflatoxins-related hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332222 semapv:UnspecifiedMatching +DOID:5016 hepatocellular clear cell carcinoma oboInOwl:hasDbXref ICDO:8174/3 semapv:UnspecifiedMatching DOID:5022 aflatoxins-related hepatocellular carcinoma oboInOwl:hasDbXref NCI:C27922 semapv:UnspecifiedMatching +DOID:5022 aflatoxins-related hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332222 semapv:UnspecifiedMatching DOID:5026 sclerosing hepatic carcinoma oboInOwl:hasDbXref NCI:C27388 semapv:UnspecifiedMatching DOID:5026 sclerosing hepatic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266018 semapv:UnspecifiedMatching DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICDO:9362/3 semapv:UnspecifiedMatching @@ -25713,11 +25738,11 @@ DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasD DOID:5030 pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref UMLS_CUI:C1367859 semapv:UnspecifiedMatching DOID:5031 adult pineal parenchymal tumor oboInOwl:hasDbXref NCI:C8273 semapv:UnspecifiedMatching DOID:5031 adult pineal parenchymal tumor oboInOwl:hasDbXref UMLS_CUI:C0280794 semapv:UnspecifiedMatching -DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153655 semapv:UnspecifiedMatching +DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C1412004 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0031941 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref NCI:C6965 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref NCI:C3573 semapv:UnspecifiedMatching -DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C1412004 semapv:UnspecifiedMatching +DOID:5032 pineal gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153655 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref MESH:D010871 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref ICD9CM:194.4 semapv:UnspecifiedMatching DOID:5032 pineal gland cancer oboInOwl:hasDbXref ICD10CM:C75.3 semapv:UnspecifiedMatching @@ -25738,23 +25763,23 @@ DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0153416 semapv:Unspecif DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3534 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref UMLS_CUI:C0153413 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3533 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.5 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.5 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref MESH:D004938 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.8 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref GARD:6383 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.3 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.4 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.2 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref NCI:C3028 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.4 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.5 semapv:UnspecifiedMatching +DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.8 semapv:UnspecifiedMatching DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.3 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD9CM:150.2 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.5 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.4 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref ICD10CM:C15.3 semapv:UnspecifiedMatching -DOID:5041 esophageal cancer oboInOwl:hasDbXref GARD:6383 semapv:UnspecifiedMatching DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref NCI:C4336 semapv:UnspecifiedMatching DOID:5042 malignant granular cell myoblastoma oboInOwl:hasDbXref UMLS_CUI:C0334618 semapv:UnspecifiedMatching -DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1520083 semapv:UnspecifiedMatching DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref NCI:C40328 semapv:UnspecifiedMatching -DOID:5044 cardiac granular cell neoplasm oboInOwl:hasDbXref NCI:C5360 semapv:UnspecifiedMatching +DOID:5043 vulvar granular cell tumor oboInOwl:hasDbXref UMLS_CUI:C1520083 semapv:UnspecifiedMatching DOID:5044 cardiac granular cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332845 semapv:UnspecifiedMatching +DOID:5044 cardiac granular cell neoplasm oboInOwl:hasDbXref NCI:C5360 semapv:UnspecifiedMatching DOID:5046 mediastinal granular cell myoblastoma oboInOwl:hasDbXref NCI:C6601 semapv:UnspecifiedMatching DOID:5046 mediastinal granular cell myoblastoma oboInOwl:hasDbXref UMLS_CUI:C1334656 semapv:UnspecifiedMatching DOID:5047 granular cell tumor of the sellar region oboInOwl:hasDbXref NCI:C7017 semapv:UnspecifiedMatching @@ -25764,8 +25789,8 @@ DOID:5048 posterior pituitary gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C133495 DOID:5050 Ehrlich tumor carcinoma oboInOwl:hasDbXref MESH:D002286 semapv:UnspecifiedMatching DOID:5050 Ehrlich tumor carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007125 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref NCI:C128336 semapv:UnspecifiedMatching -DOID:5052 melioidosis oboInOwl:hasDbXref MESH:D008554 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref UMLS_CUI:C0025229 semapv:UnspecifiedMatching +DOID:5052 melioidosis oboInOwl:hasDbXref MESH:D008554 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref ICD10CM:A24.9 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref GARD:9546 semapv:UnspecifiedMatching DOID:5052 melioidosis oboInOwl:hasDbXref ICD9CM:025 semapv:UnspecifiedMatching @@ -25789,49 +25814,49 @@ DOID:5074 high grade ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:Unspecifie DOID:5074 high grade ependymoma oboInOwl:hasDbXref NCI:C6770 semapv:UnspecifiedMatching DOID:5074 high grade ependymoma oboInOwl:hasDbXref UMLS_CUI:C1333407 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref UMLS_CUI:C0205769 semapv:UnspecifiedMatching -DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref NCI:C3697 semapv:UnspecifiedMatching -DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref ICDO:9394/1 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref GARD:10633 semapv:UnspecifiedMatching +DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref ICDO:9394/1 semapv:UnspecifiedMatching DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching -DOID:5076 mixed glioma oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching +DOID:5075 myxopapillary ependymoma oboInOwl:hasDbXref NCI:C3697 semapv:UnspecifiedMatching DOID:5076 mixed glioma oboInOwl:hasDbXref NCI:C3903 semapv:UnspecifiedMatching DOID:5076 mixed glioma oboInOwl:hasDbXref UMLS_CUI:C0259783 semapv:UnspecifiedMatching -DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0205768 semapv:UnspecifiedMatching +DOID:5076 mixed glioma oboInOwl:hasDbXref MESH:D005910 semapv:UnspecifiedMatching +DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref GARD:10632 semapv:UnspecifiedMatching +DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref ICDO:9384/1 semapv:UnspecifiedMatching DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref NCI:C3696 semapv:UnspecifiedMatching -DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref ICDO:9384/1 semapv:UnspecifiedMatching -DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref GARD:10632 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref GARD:2430 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref ICDO:9505/1 semapv:UnspecifiedMatching +DOID:5077 subependymal giant cell astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0205768 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C1332969 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C1332202 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C0206716 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C3788 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref MESH:D018303 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C27362 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref ICDO:9505/1 semapv:UnspecifiedMatching +DOID:5078 ganglioglioma oboInOwl:hasDbXref GARD:2430 semapv:UnspecifiedMatching DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C27363 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref NCI:C3788 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C0206716 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C1332202 semapv:UnspecifiedMatching -DOID:5078 ganglioglioma oboInOwl:hasDbXref UMLS_CUI:C1332969 semapv:UnspecifiedMatching -DOID:5082 liver cirrhosis oboInOwl:hasDbXref NCI:C2951 semapv:UnspecifiedMatching -DOID:5082 liver cirrhosis oboInOwl:hasDbXref MESH:D008103 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref UMLS_CUI:C0023890 semapv:UnspecifiedMatching +DOID:5082 liver cirrhosis oboInOwl:hasDbXref NCI:C2951 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref EFO:0001422 semapv:UnspecifiedMatching DOID:5082 liver cirrhosis oboInOwl:hasDbXref ICD10CM:K74.60 semapv:UnspecifiedMatching +DOID:5082 liver cirrhosis oboInOwl:hasDbXref MESH:D008103 semapv:UnspecifiedMatching DOID:5083 iodine hypothyroidism oboInOwl:hasDbXref ICD9CM:244.2 semapv:UnspecifiedMatching DOID:5083 iodine hypothyroidism oboInOwl:hasDbXref UMLS_CUI:C0154159 semapv:UnspecifiedMatching DOID:5088 mixed epithelial stromal tumour oboInOwl:hasDbXref NCI:C37265 semapv:UnspecifiedMatching DOID:5088 mixed epithelial stromal tumour oboInOwl:hasDbXref UMLS_CUI:C1334602 semapv:UnspecifiedMatching -DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS_CUI:C1382025 semapv:UnspecifiedMatching -DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS_CUI:C1290244 semapv:UnspecifiedMatching DOID:5090 sternum cancer oboInOwl:hasDbXref NCI:C6730 semapv:UnspecifiedMatching DOID:5090 sternum cancer oboInOwl:hasDbXref NCI:C8408 semapv:UnspecifiedMatching +DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS_CUI:C1290244 semapv:UnspecifiedMatching +DOID:5090 sternum cancer oboInOwl:hasDbXref UMLS_CUI:C1382025 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS_CUI:C0039981 semapv:UnspecifiedMatching -DOID:5093 thoracic cancer oboInOwl:hasDbXref ICD10CM:C76.1 semapv:UnspecifiedMatching -DOID:5093 thoracic cancer oboInOwl:hasDbXref ICD9CM:195.1 semapv:UnspecifiedMatching -DOID:5093 thoracic cancer oboInOwl:hasDbXref MESH:D013899 semapv:UnspecifiedMatching +DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS_CUI:C0153661 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref NCI:C3406 semapv:UnspecifiedMatching DOID:5093 thoracic cancer oboInOwl:hasDbXref NCI:C3576 semapv:UnspecifiedMatching -DOID:5093 thoracic cancer oboInOwl:hasDbXref UMLS_CUI:C0153661 semapv:UnspecifiedMatching -DOID:5099 middle ear cancer oboInOwl:hasDbXref UMLS_CUI:C0345617 semapv:UnspecifiedMatching +DOID:5093 thoracic cancer oboInOwl:hasDbXref ICD9CM:195.1 semapv:UnspecifiedMatching +DOID:5093 thoracic cancer oboInOwl:hasDbXref ICD10CM:C76.1 semapv:UnspecifiedMatching +DOID:5093 thoracic cancer oboInOwl:hasDbXref MESH:D013899 semapv:UnspecifiedMatching DOID:5099 middle ear cancer oboInOwl:hasDbXref NCI:C4412 semapv:UnspecifiedMatching +DOID:5099 middle ear cancer oboInOwl:hasDbXref UMLS_CUI:C0345617 semapv:UnspecifiedMatching DOID:5100 middle ear disease oboInOwl:hasDbXref NCI:C27065 semapv:UnspecifiedMatching DOID:5100 middle ear disease oboInOwl:hasDbXref UMLS_CUI:C0271428 semapv:UnspecifiedMatching DOID:5101 ear cancer oboInOwl:hasDbXref MESH:D004428 semapv:UnspecifiedMatching @@ -25840,14 +25865,14 @@ DOID:5102 inner ear cancer oboInOwl:hasDbXref NCI:C39784 semapv:UnspecifiedMatch DOID:5102 inner ear cancer oboInOwl:hasDbXref UMLS_CUI:C1512779 semapv:UnspecifiedMatching DOID:5104 testicular infarct oboInOwl:hasDbXref NCI:C27617 semapv:UnspecifiedMatching DOID:5104 testicular infarct oboInOwl:hasDbXref UMLS_CUI:C0392041 semapv:UnspecifiedMatching -DOID:5112 copper deficiency myelopathy oboInOwl:hasDbXref MESH:D013540 semapv:UnspecifiedMatching DOID:5112 copper deficiency myelopathy oboInOwl:hasDbXref UMLS_CUI:C0038981 semapv:UnspecifiedMatching -DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref MESH:D003677 semapv:UnspecifiedMatching +DOID:5112 copper deficiency myelopathy oboInOwl:hasDbXref MESH:D013540 semapv:UnspecifiedMatching DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0011156 semapv:UnspecifiedMatching -DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref UMLS_CUI:C0237020 semapv:UnspecifiedMatching -DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref OMIM:166950 semapv:UnspecifiedMatching -DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref NCI:C3856 semapv:UnspecifiedMatching +DOID:5113 nutritional deficiency disease oboInOwl:hasDbXref MESH:D003677 semapv:UnspecifiedMatching DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref MESH:C562731 semapv:UnspecifiedMatching +DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref NCI:C3856 semapv:UnspecifiedMatching +DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref OMIM:166950 semapv:UnspecifiedMatching +DOID:5117 dermoid cyst of ovary oboInOwl:hasDbXref UMLS_CUI:C0237020 semapv:UnspecifiedMatching DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref NCI:C7283 semapv:UnspecifiedMatching DOID:5118 ovarian cystic teratoma oboInOwl:hasDbXref UMLS_CUI:C1335155 semapv:UnspecifiedMatching DOID:5119 ovarian cyst oboInOwl:hasDbXref ICD10CM:N83.2 semapv:UnspecifiedMatching @@ -25857,15 +25882,15 @@ DOID:512 epididymal neoplasm oboInOwl:hasDbXref NCI:C39958 semapv:UnspecifiedMat DOID:512 epididymal neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346239 semapv:UnspecifiedMatching DOID:5123 mediastinum leiomyoma oboInOwl:hasDbXref NCI:C6598 semapv:UnspecifiedMatching DOID:5123 mediastinum leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334659 semapv:UnspecifiedMatching -DOID:5124 fallopian tube leiomyoma oboInOwl:hasDbXref NCI:C40127 semapv:UnspecifiedMatching DOID:5124 fallopian tube leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1517115 semapv:UnspecifiedMatching -DOID:5125 extrahepatic bile duct leiomyoma oboInOwl:hasDbXref NCI:C5855 semapv:UnspecifiedMatching +DOID:5124 fallopian tube leiomyoma oboInOwl:hasDbXref NCI:C40127 semapv:UnspecifiedMatching DOID:5125 extrahepatic bile duct leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333507 semapv:UnspecifiedMatching -DOID:5126 central nervous system leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334382 semapv:UnspecifiedMatching +DOID:5125 extrahepatic bile duct leiomyoma oboInOwl:hasDbXref NCI:C5855 semapv:UnspecifiedMatching DOID:5126 central nervous system leiomyoma oboInOwl:hasDbXref NCI:C6998 semapv:UnspecifiedMatching -DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334478 semapv:UnspecifiedMatching +DOID:5126 central nervous system leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334382 semapv:UnspecifiedMatching DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref ICDO:8893/0 semapv:UnspecifiedMatching DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref NCI:C4257 semapv:UnspecifiedMatching +DOID:5127 bizarre leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334478 semapv:UnspecifiedMatching DOID:5128 deep leiomyoma oboInOwl:hasDbXref NCI:C6512 semapv:UnspecifiedMatching DOID:5128 deep leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333266 semapv:UnspecifiedMatching DOID:5129 simple partial epilepsy oboInOwl:hasDbXref ICD9CM:345.51 semapv:UnspecifiedMatching @@ -25876,12 +25901,12 @@ DOID:5134 anus leiomyoma oboInOwl:hasDbXref NCI:C5608 semapv:UnspecifiedMatching DOID:5134 anus leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1332266 semapv:UnspecifiedMatching DOID:5136 lung leiomyoma oboInOwl:hasDbXref NCI:C5660 semapv:UnspecifiedMatching DOID:5136 lung leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1334447 semapv:UnspecifiedMatching -DOID:5137 pericardium leiomyoma oboInOwl:hasDbXref NCI:C6743 semapv:UnspecifiedMatching DOID:5137 pericardium leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335380 semapv:UnspecifiedMatching -DOID:5138 leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0206654 semapv:UnspecifiedMatching -DOID:5138 leiomyomatosis oboInOwl:hasDbXref NCI:C3748 semapv:UnspecifiedMatching -DOID:5138 leiomyomatosis oboInOwl:hasDbXref MESH:D018231 semapv:UnspecifiedMatching +DOID:5137 pericardium leiomyoma oboInOwl:hasDbXref NCI:C6743 semapv:UnspecifiedMatching DOID:5138 leiomyomatosis oboInOwl:hasDbXref ICDO:8890/1 semapv:UnspecifiedMatching +DOID:5138 leiomyomatosis oboInOwl:hasDbXref MESH:D018231 semapv:UnspecifiedMatching +DOID:5138 leiomyomatosis oboInOwl:hasDbXref NCI:C3748 semapv:UnspecifiedMatching +DOID:5138 leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0206654 semapv:UnspecifiedMatching DOID:5139 cellular leiomyoma oboInOwl:hasDbXref ICDO:8892/0 semapv:UnspecifiedMatching DOID:5139 cellular leiomyoma oboInOwl:hasDbXref NCI:C4256 semapv:UnspecifiedMatching DOID:5139 cellular leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334477 semapv:UnspecifiedMatching @@ -25891,10 +25916,10 @@ DOID:5142 vulvar leiomyoma oboInOwl:hasDbXref NCI:C40326 semapv:UnspecifiedMatch DOID:5142 vulvar leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1520087 semapv:UnspecifiedMatching DOID:5143 large bowel leiomyoma oboInOwl:hasDbXref NCI:C5677 semapv:UnspecifiedMatching DOID:5143 large bowel leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333113 semapv:UnspecifiedMatching -DOID:5146 appendix leiomyoma oboInOwl:hasDbXref NCI:C5514 semapv:UnspecifiedMatching DOID:5146 appendix leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1332327 semapv:UnspecifiedMatching -DOID:5147 dartoic leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0346066 semapv:UnspecifiedMatching +DOID:5146 appendix leiomyoma oboInOwl:hasDbXref NCI:C5514 semapv:UnspecifiedMatching DOID:5147 dartoic leiomyoma oboInOwl:hasDbXref NCI:C4483 semapv:UnspecifiedMatching +DOID:5147 dartoic leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0346066 semapv:UnspecifiedMatching DOID:5149 epithelioid neurofibroma oboInOwl:hasDbXref NCI:C6558 semapv:UnspecifiedMatching DOID:5149 epithelioid neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1275264 semapv:UnspecifiedMatching DOID:5150 neurofibroma of gallbladder oboInOwl:hasDbXref NCI:C5746 semapv:UnspecifiedMatching @@ -25906,8 +25931,8 @@ DOID:5151 plexiform neurofibroma oboInOwl:hasDbXref UMLS_CUI:C0206728 semapv:Uns DOID:5152 cellular neurofibroma oboInOwl:hasDbXref NCI:C41427 semapv:UnspecifiedMatching DOID:5152 cellular neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1516371 semapv:UnspecifiedMatching DOID:5153 atypical neurofibroma oboInOwl:hasDbXref UMLS_CUI:C1510961 semapv:UnspecifiedMatching -DOID:5154 borna disease oboInOwl:hasDbXref UMLS_CUI:C0006023 semapv:UnspecifiedMatching DOID:5154 borna disease skos:exactMatch MESH:D001890 semapv:UnspecifiedMatching +DOID:5154 borna disease oboInOwl:hasDbXref UMLS_CUI:C0006023 semapv:UnspecifiedMatching DOID:5154 borna disease oboInOwl:hasDbXref MESH:D001890 semapv:UnspecifiedMatching DOID:5155 multiple mucosal neuroma oboInOwl:hasDbXref NCI:C6559 semapv:UnspecifiedMatching DOID:5155 multiple mucosal neuroma oboInOwl:hasDbXref UMLS_CUI:C1334828 semapv:UnspecifiedMatching @@ -25922,14 +25947,14 @@ DOID:5158 pleural cancer oboInOwl:hasDbXref UMLS_CUI:C0032229 semapv:Unspecified DOID:5158 pleural cancer oboInOwl:hasDbXref UMLS_CUI:C0153494 semapv:UnspecifiedMatching DOID:5160 arteriosclerosis obliterans oboInOwl:hasDbXref MESH:D001162 semapv:UnspecifiedMatching DOID:5160 arteriosclerosis obliterans oboInOwl:hasDbXref UMLS_CUI:C0003851 semapv:UnspecifiedMatching -DOID:5162 arteriolosclerosis oboInOwl:hasDbXref UMLS_CUI:C0878486 semapv:UnspecifiedMatching -DOID:5162 arteriolosclerosis oboInOwl:hasDbXref NCI:C35543 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis skos:exactMatch MESH:D050379 semapv:UnspecifiedMatching +DOID:5162 arteriolosclerosis oboInOwl:hasDbXref UMLS_CUI:C0878486 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis oboInOwl:hasDbXref ICD10CM:I70 semapv:UnspecifiedMatching DOID:5162 arteriolosclerosis oboInOwl:hasDbXref MESH:D050379 semapv:UnspecifiedMatching -DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref UMLS_CUI:C0338113 semapv:UnspecifiedMatching -DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref NCI:C6339 semapv:UnspecifiedMatching +DOID:5162 arteriolosclerosis oboInOwl:hasDbXref NCI:C35543 semapv:UnspecifiedMatching DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref GARD:9383 semapv:UnspecifiedMatching +DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref NCI:C6339 semapv:UnspecifiedMatching +DOID:5165 uterine corpus sarcoma oboInOwl:hasDbXref UMLS_CUI:C0338113 semapv:UnspecifiedMatching DOID:5166 endometrial stromal tumor oboInOwl:hasDbXref MESH:D036821 semapv:UnspecifiedMatching DOID:5166 endometrial stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0334695 semapv:UnspecifiedMatching DOID:5169 ovarian endometrioid stromal sarcoma oboInOwl:hasDbXref NCI:C40065 semapv:UnspecifiedMatching @@ -25938,12 +25963,12 @@ DOID:5170 vaginal endometrial stromal sarcoma oboInOwl:hasDbXref NCI:C40270 sema DOID:5170 vaginal endometrial stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C3642329 semapv:UnspecifiedMatching DOID:5171 vaginal endometrial stromal tumor oboInOwl:hasDbXref NCI:C40269 semapv:UnspecifiedMatching DOID:5171 vaginal endometrial stromal tumor oboInOwl:hasDbXref UMLS_CUI:C4289585 semapv:UnspecifiedMatching -DOID:5172 endometrium carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.0 semapv:UnspecifiedMatching DOID:5172 endometrium carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0346191 semapv:UnspecifiedMatching +DOID:5172 endometrium carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.0 semapv:UnspecifiedMatching DOID:5176 renal Wilms' tumor oboInOwl:hasDbXref NCI:C6951 semapv:UnspecifiedMatching DOID:5176 renal Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1335062 semapv:UnspecifiedMatching -DOID:5178 metachronous kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1334705 semapv:UnspecifiedMatching DOID:5178 metachronous kidney Wilms' tumor oboInOwl:hasDbXref NCI:C38158 semapv:UnspecifiedMatching +DOID:5178 metachronous kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1334705 semapv:UnspecifiedMatching DOID:5179 mixed cell type kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9149 semapv:UnspecifiedMatching DOID:5179 mixed cell type kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279611 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref ICD10CM:C63.2 semapv:UnspecifiedMatching @@ -25952,47 +25977,47 @@ DOID:518 scrotum neoplasm oboInOwl:hasDbXref NCI:C3560 semapv:UnspecifiedMatchin DOID:518 scrotum neoplasm oboInOwl:hasDbXref NCI:C4380 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153604 semapv:UnspecifiedMatching DOID:518 scrotum neoplasm oboInOwl:hasDbXref UMLS_CUI:C0341790 semapv:UnspecifiedMatching -DOID:5182 blastema predominant kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9147 semapv:UnspecifiedMatching DOID:5182 blastema predominant kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279609 semapv:UnspecifiedMatching -DOID:5183 hereditary Wilms' tumor oboInOwl:hasDbXref NCI:C8496 semapv:UnspecifiedMatching +DOID:5182 blastema predominant kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9147 semapv:UnspecifiedMatching DOID:5183 hereditary Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0677779 semapv:UnspecifiedMatching -DOID:5189 epithelial predominant Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279608 semapv:UnspecifiedMatching +DOID:5183 hereditary Wilms' tumor oboInOwl:hasDbXref NCI:C8496 semapv:UnspecifiedMatching DOID:5189 epithelial predominant Wilms' tumor oboInOwl:hasDbXref NCI:C9146 semapv:UnspecifiedMatching -DOID:519 aortitis oboInOwl:hasDbXref NCI:C97085 semapv:UnspecifiedMatching -DOID:519 aortitis oboInOwl:hasDbXref UMLS_CUI:C0003509 semapv:UnspecifiedMatching +DOID:5189 epithelial predominant Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279608 semapv:UnspecifiedMatching DOID:519 aortitis oboInOwl:hasDbXref ICD10CM:I77.6 semapv:UnspecifiedMatching DOID:519 aortitis oboInOwl:hasDbXref MESH:D001025 semapv:UnspecifiedMatching +DOID:519 aortitis oboInOwl:hasDbXref NCI:C97085 semapv:UnspecifiedMatching +DOID:519 aortitis oboInOwl:hasDbXref UMLS_CUI:C0003509 semapv:UnspecifiedMatching DOID:5190 cervical Wilms' tumor oboInOwl:hasDbXref NCI:C40236 semapv:UnspecifiedMatching DOID:5190 cervical Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C1516437 semapv:UnspecifiedMatching DOID:5191 stromal predominant kidney Wilms' tumor oboInOwl:hasDbXref NCI:C9148 semapv:UnspecifiedMatching DOID:5191 stromal predominant kidney Wilms' tumor oboInOwl:hasDbXref UMLS_CUI:C0279610 semapv:UnspecifiedMatching DOID:5193 nodular ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42058 semapv:UnspecifiedMatching DOID:5193 nodular ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1517445 semapv:UnspecifiedMatching -DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1517444 semapv:UnspecifiedMatching DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42057 semapv:UnspecifiedMatching -DOID:5195 peripheral nervous system ganglioneuroblastoma oboInOwl:hasDbXref NCI:C6594 semapv:UnspecifiedMatching +DOID:5194 intermixed schwannian stroma-rich ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1517444 semapv:UnspecifiedMatching DOID:5195 peripheral nervous system ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1335387 semapv:UnspecifiedMatching +DOID:5195 peripheral nervous system ganglioneuroblastoma oboInOwl:hasDbXref NCI:C6594 semapv:UnspecifiedMatching DOID:5196 fallopian tube adenomatoid tumor oboInOwl:hasDbXref NCI:C40129 semapv:UnspecifiedMatching DOID:5196 fallopian tube adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C1517110 semapv:UnspecifiedMatching -DOID:5199 ureteral obstruction oboInOwl:hasDbXref UMLS_CUI:C0029866 semapv:UnspecifiedMatching DOID:5199 ureteral obstruction oboInOwl:hasDbXref ICD9CM:593.4 semapv:UnspecifiedMatching -DOID:520 aortic disease oboInOwl:hasDbXref UMLS_CUI:C0003493 semapv:UnspecifiedMatching +DOID:5199 ureteral obstruction oboInOwl:hasDbXref UMLS_CUI:C0029866 semapv:UnspecifiedMatching DOID:520 aortic disease oboInOwl:hasDbXref MESH:D001018 semapv:UnspecifiedMatching DOID:520 aortic disease oboInOwl:hasDbXref NCI:C101253 semapv:UnspecifiedMatching +DOID:520 aortic disease oboInOwl:hasDbXref UMLS_CUI:C0003493 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref ICD10CM:N13.9 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref ICD9CM:599.6 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref NCI:C79805 semapv:UnspecifiedMatching DOID:5200 urinary tract obstruction oboInOwl:hasDbXref UMLS_CUI:C0178879 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref GARD:2400 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10CM:E74.19 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MESH:D015319 semapv:UnspecifiedMatching +DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS_CUI:C0016756 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref NCI:C128119 semapv:UnspecifiedMatching DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref OMIM:229700 semapv:UnspecifiedMatching -DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref UMLS_CUI:C0016756 semapv:UnspecifiedMatching +DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref ICD10CM:E74.19 semapv:UnspecifiedMatching +DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref MESH:D015319 semapv:UnspecifiedMatching +DOID:5204 fructose-1,6-bisphosphatase deficiency oboInOwl:hasDbXref GARD:2400 semapv:UnspecifiedMatching DOID:5207 monodermal teratoma oboInOwl:hasDbXref NCI:C7286 semapv:UnspecifiedMatching DOID:5207 monodermal teratoma oboInOwl:hasDbXref UMLS_CUI:C1302569 semapv:UnspecifiedMatching -DOID:5208 malignant struma ovarii oboInOwl:hasDbXref UMLS_CUI:C0334525 semapv:UnspecifiedMatching DOID:5208 malignant struma ovarii oboInOwl:hasDbXref NCI:C4291 semapv:UnspecifiedMatching +DOID:5208 malignant struma ovarii oboInOwl:hasDbXref UMLS_CUI:C0334525 semapv:UnspecifiedMatching DOID:5209 benign struma ovarii oboInOwl:hasDbXref UMLS_CUI:C1511104 semapv:UnspecifiedMatching DOID:5209 benign struma ovarii oboInOwl:hasDbXref NCI:C40012 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref GARD:10307 semapv:UnspecifiedMatching @@ -26000,128 +26025,128 @@ DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref MESH:D018981 s DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref NCI:C84615 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref ORDO:137 semapv:UnspecifiedMatching DOID:5212 congenital disorder of glycosylation oboInOwl:hasDbXref UMLS_CUI:C0282577 semapv:UnspecifiedMatching +DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref NCI:C84636 semapv:UnspecifiedMatching +DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS_CUI:C0393819 semapv:UnspecifiedMatching +DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref MESH:D020277 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref GARD:6102 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD10CM:G61.81 semapv:UnspecifiedMatching DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref ICD9CM:357.81 semapv:UnspecifiedMatching -DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref MESH:D020277 semapv:UnspecifiedMatching -DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref NCI:C84636 semapv:UnspecifiedMatching -DOID:5213 chronic inflammatory demyelinating polyradiculoneuropathy oboInOwl:hasDbXref UMLS_CUI:C0393819 semapv:UnspecifiedMatching DOID:5214 demyelinating polyneuropathy oboInOwl:hasDbXref NCI:C27062 semapv:UnspecifiedMatching DOID:5214 demyelinating polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0270922 semapv:UnspecifiedMatching DOID:5221 chronic polyneuropathy oboInOwl:hasDbXref NCI:C36071 semapv:UnspecifiedMatching DOID:5221 chronic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1167650 semapv:UnspecifiedMatching -DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref UMLS_CUI:C0338418 semapv:UnspecifiedMatching DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref MESH:D004684 semapv:UnspecifiedMatching DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref NCI:C35383 semapv:UnspecifiedMatching -DOID:5223 infertility oboInOwl:hasDbXref MESH:D007246 semapv:UnspecifiedMatching +DOID:5222 acute necrotizing encephalitis oboInOwl:hasDbXref UMLS_CUI:C0338418 semapv:UnspecifiedMatching DOID:5223 infertility oboInOwl:hasDbXref NCI:C3836 semapv:UnspecifiedMatching +DOID:5223 infertility oboInOwl:hasDbXref MESH:D007246 semapv:UnspecifiedMatching DOID:5223 infertility oboInOwl:hasDbXref UMLS_CUI:C0021359 semapv:UnspecifiedMatching -DOID:5224 acute hemorrhagic encephalitis oboInOwl:hasDbXref NCI:C35796 semapv:UnspecifiedMatching DOID:5224 acute hemorrhagic encephalitis oboInOwl:hasDbXref UMLS_CUI:C1332149 semapv:UnspecifiedMatching +DOID:5224 acute hemorrhagic encephalitis oboInOwl:hasDbXref NCI:C35796 semapv:UnspecifiedMatching DOID:5225 von Economo's disease oboInOwl:hasDbXref ICD10CM:A85.8 semapv:UnspecifiedMatching DOID:5225 von Economo's disease oboInOwl:hasDbXref NCI:C26761 semapv:UnspecifiedMatching DOID:5225 von Economo's disease oboInOwl:hasDbXref UMLS_CUI:C0014040 semapv:UnspecifiedMatching +DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref ORDO:95159 semapv:UnspecifiedMatching +DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref NCI:C84754 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS_CUI:C0162569 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref GARD:6169 semapv:UnspecifiedMatching DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 semapv:UnspecifiedMatching -DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref NCI:C84754 semapv:UnspecifiedMatching -DOID:5230 hepatoerythropoietic porphyria oboInOwl:hasDbXref ORDO:95159 semapv:UnspecifiedMatching -DOID:5232 aortic valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0003505 semapv:UnspecifiedMatching DOID:5232 aortic valve prolapse oboInOwl:hasDbXref MESH:D001023 semapv:UnspecifiedMatching +DOID:5232 aortic valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0003505 semapv:UnspecifiedMatching DOID:5233 glomangiosarcoma oboInOwl:hasDbXref ICDO:8710/3 semapv:UnspecifiedMatching DOID:5233 glomangiosarcoma oboInOwl:hasDbXref NCI:C4221 semapv:UnspecifiedMatching DOID:5233 glomangiosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266111 semapv:UnspecifiedMatching DOID:5236 subungual glomus tumor oboInOwl:hasDbXref NCI:C36079 semapv:UnspecifiedMatching DOID:5236 subungual glomus tumor oboInOwl:hasDbXref UMLS_CUI:C1304510 semapv:UnspecifiedMatching -DOID:5238 benign perivascular tumor oboInOwl:hasDbXref NCI:C6529 semapv:UnspecifiedMatching DOID:5238 benign perivascular tumor oboInOwl:hasDbXref UMLS_CUI:C1332532 semapv:UnspecifiedMatching +DOID:5238 benign perivascular tumor oboInOwl:hasDbXref NCI:C6529 semapv:UnspecifiedMatching DOID:5240 retinal hemangioblastoma oboInOwl:hasDbXref NCI:C39783 semapv:UnspecifiedMatching DOID:5240 retinal hemangioblastoma oboInOwl:hasDbXref UMLS_CUI:C0730303 semapv:UnspecifiedMatching -DOID:5241 hemangioblastoma oboInOwl:hasDbXref NCI:C3801 semapv:UnspecifiedMatching -DOID:5241 hemangioblastoma oboInOwl:hasDbXref MESH:D018325 semapv:UnspecifiedMatching -DOID:5241 hemangioblastoma oboInOwl:hasDbXref UMLS_CUI:C0206734 semapv:UnspecifiedMatching -DOID:5241 hemangioblastoma oboInOwl:hasDbXref GARD:8522 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref GARD:8232 semapv:UnspecifiedMatching +DOID:5241 hemangioblastoma oboInOwl:hasDbXref GARD:8522 semapv:UnspecifiedMatching DOID:5241 hemangioblastoma oboInOwl:hasDbXref ICDO:9161/1 semapv:UnspecifiedMatching +DOID:5241 hemangioblastoma oboInOwl:hasDbXref MESH:D018325 semapv:UnspecifiedMatching +DOID:5241 hemangioblastoma oboInOwl:hasDbXref NCI:C3801 semapv:UnspecifiedMatching +DOID:5241 hemangioblastoma oboInOwl:hasDbXref UMLS_CUI:C0206734 semapv:UnspecifiedMatching DOID:525 central nervous system vasculitis oboInOwl:hasDbXref MESH:D020293 semapv:UnspecifiedMatching DOID:525 central nervous system vasculitis oboInOwl:hasDbXref NCI:C84622 semapv:UnspecifiedMatching DOID:525 central nervous system vasculitis oboInOwl:hasDbXref UMLS_CUI:C0751878 semapv:UnspecifiedMatching DOID:5251 inflammatory leiomyosarcoma oboInOwl:hasDbXref NCI:C27495 semapv:UnspecifiedMatching DOID:5251 inflammatory leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334179 semapv:UnspecifiedMatching -DOID:5253 conventional leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333157 semapv:UnspecifiedMatching DOID:5253 conventional leiomyosarcoma oboInOwl:hasDbXref NCI:C9428 semapv:UnspecifiedMatching -DOID:5254 central nervous system leiomyosarcoma oboInOwl:hasDbXref NCI:C6999 semapv:UnspecifiedMatching +DOID:5253 conventional leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333157 semapv:UnspecifiedMatching DOID:5254 central nervous system leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334385 semapv:UnspecifiedMatching +DOID:5254 central nervous system leiomyosarcoma oboInOwl:hasDbXref NCI:C6999 semapv:UnspecifiedMatching DOID:5258 granular cell leiomyosarcoma oboInOwl:hasDbXref NCI:C27494 semapv:UnspecifiedMatching DOID:5258 granular cell leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333871 semapv:UnspecifiedMatching DOID:5259 colon leiomyosarcoma oboInOwl:hasDbXref NCI:C5494 semapv:UnspecifiedMatching DOID:5259 colon leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333093 semapv:UnspecifiedMatching -DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref UMLS_CUI:C0019693 semapv:UnspecifiedMatching -DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref NCI:C3108 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref ICD10CM:B20 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref ICD9CM:042-042.99 semapv:UnspecifiedMatching DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref MESH:D015658 semapv:UnspecifiedMatching +DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref NCI:C3108 semapv:UnspecifiedMatching +DOID:526 human immunodeficiency virus infectious disease oboInOwl:hasDbXref UMLS_CUI:C0019693 semapv:UnspecifiedMatching DOID:5260 colon sarcoma oboInOwl:hasDbXref NCI:C5495 semapv:UnspecifiedMatching DOID:5260 colon sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333098 semapv:UnspecifiedMatching DOID:5261 heart leiomyosarcoma oboInOwl:hasDbXref NCI:C5364 semapv:UnspecifiedMatching DOID:5261 heart leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332848 semapv:UnspecifiedMatching -DOID:5262 heart sarcoma oboInOwl:hasDbXref NCI:C7723 semapv:UnspecifiedMatching DOID:5262 heart sarcoma oboInOwl:hasDbXref UMLS_CUI:C0238152 semapv:UnspecifiedMatching +DOID:5262 heart sarcoma oboInOwl:hasDbXref NCI:C7723 semapv:UnspecifiedMatching DOID:5263 ovary leiomyosarcoma oboInOwl:hasDbXref NCI:C5234 semapv:UnspecifiedMatching DOID:5263 ovary leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335163 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref ICDO:8891/3 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref NCI:C3700 semapv:UnspecifiedMatching DOID:5264 epithelioid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0205815 semapv:UnspecifiedMatching -DOID:5265 lung leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334448 semapv:UnspecifiedMatching DOID:5265 lung leiomyosarcoma oboInOwl:hasDbXref NCI:C5667 semapv:UnspecifiedMatching +DOID:5265 lung leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334448 semapv:UnspecifiedMatching DOID:5267 anus leiomyosarcoma oboInOwl:hasDbXref NCI:C5599 semapv:UnspecifiedMatching DOID:5267 anus leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332267 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref ICDO:8896/3 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref MESH:D007890 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref NCI:C3701 semapv:UnspecifiedMatching DOID:5268 myxoid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0205816 semapv:UnspecifiedMatching -DOID:5271 small intestine leiomyosarcoma oboInOwl:hasDbXref NCI:C7085 semapv:UnspecifiedMatching DOID:5271 small intestine leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0920305 semapv:UnspecifiedMatching +DOID:5271 small intestine leiomyosarcoma oboInOwl:hasDbXref NCI:C7085 semapv:UnspecifiedMatching DOID:5272 small intestinal sarcoma oboInOwl:hasDbXref NCI:C5335 semapv:UnspecifiedMatching DOID:5272 small intestinal sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336007 semapv:UnspecifiedMatching DOID:5273 cutaneous leiomyosarcoma oboInOwl:hasDbXref NCI:C4484 semapv:UnspecifiedMatching DOID:5273 cutaneous leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0346067 semapv:UnspecifiedMatching -DOID:5274 malignant dermis tumor oboInOwl:hasDbXref UMLS_CUI:C0346811 semapv:UnspecifiedMatching DOID:5274 malignant dermis tumor oboInOwl:hasDbXref NCI:C4574 semapv:UnspecifiedMatching -DOID:5275 gallbladder leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333746 semapv:UnspecifiedMatching +DOID:5274 malignant dermis tumor oboInOwl:hasDbXref UMLS_CUI:C0346811 semapv:UnspecifiedMatching DOID:5275 gallbladder leiomyosarcoma oboInOwl:hasDbXref NCI:C5841 semapv:UnspecifiedMatching +DOID:5275 gallbladder leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333746 semapv:UnspecifiedMatching DOID:5276 esophagus leiomyosarcoma oboInOwl:hasDbXref NCI:C5334 semapv:UnspecifiedMatching DOID:5276 esophagus leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333454 semapv:UnspecifiedMatching DOID:528 hydrarthrosis oboInOwl:hasDbXref ICD9CM:719.08 semapv:UnspecifiedMatching DOID:528 hydrarthrosis oboInOwl:hasDbXref UMLS_CUI:C0158157 semapv:UnspecifiedMatching -DOID:5280 gastric leiomyosarcoma oboInOwl:hasDbXref NCI:C27200 semapv:UnspecifiedMatching DOID:5280 gastric leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0744295 semapv:UnspecifiedMatching -DOID:5282 prostate leiomyosarcoma oboInOwl:hasDbXref NCI:C5526 semapv:UnspecifiedMatching +DOID:5280 gastric leiomyosarcoma oboInOwl:hasDbXref NCI:C27200 semapv:UnspecifiedMatching DOID:5282 prostate leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335511 semapv:UnspecifiedMatching +DOID:5282 prostate leiomyosarcoma oboInOwl:hasDbXref NCI:C5526 semapv:UnspecifiedMatching DOID:5283 vagina leiomyosarcoma oboInOwl:hasDbXref NCI:C6326 semapv:UnspecifiedMatching DOID:5283 vagina leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336940 semapv:UnspecifiedMatching DOID:5284 retroperitoneal leiomyosarcoma oboInOwl:hasDbXref NCI:C27904 semapv:UnspecifiedMatching DOID:5285 breast leiomyosarcoma oboInOwl:hasDbXref NCI:C5186 semapv:UnspecifiedMatching DOID:5285 breast leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332631 semapv:UnspecifiedMatching DOID:5286 vulvar leiomyosarcoma oboInOwl:hasDbXref NCI:C40318 semapv:UnspecifiedMatching -DOID:5287 kidney leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335743 semapv:UnspecifiedMatching DOID:5287 kidney leiomyosarcoma oboInOwl:hasDbXref NCI:C6183 semapv:UnspecifiedMatching +DOID:5287 kidney leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335743 semapv:UnspecifiedMatching DOID:5288 larynx leiomyosarcoma oboInOwl:hasDbXref NCI:C6022 semapv:UnspecifiedMatching DOID:5288 larynx leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334371 semapv:UnspecifiedMatching -DOID:5289 uterus leiomyosarcoma oboInOwl:hasDbXref NCI:C6340 semapv:UnspecifiedMatching DOID:5289 uterus leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0280631 semapv:UnspecifiedMatching -DOID:529 blepharospasm oboInOwl:hasDbXref GARD:5909 semapv:UnspecifiedMatching -DOID:529 blepharospasm oboInOwl:hasDbXref ICD10CM:G24.5 semapv:UnspecifiedMatching -DOID:529 blepharospasm oboInOwl:hasDbXref ICD9CM:333.81 semapv:UnspecifiedMatching -DOID:529 blepharospasm oboInOwl:hasDbXref MESH:D001764 semapv:UnspecifiedMatching -DOID:529 blepharospasm oboInOwl:hasDbXref NCI:C118723 semapv:UnspecifiedMatching +DOID:5289 uterus leiomyosarcoma oboInOwl:hasDbXref NCI:C6340 semapv:UnspecifiedMatching DOID:529 blepharospasm oboInOwl:hasDbXref UMLS_CUI:C0005747 semapv:UnspecifiedMatching +DOID:529 blepharospasm oboInOwl:hasDbXref NCI:C118723 semapv:UnspecifiedMatching DOID:529 blepharospasm skos:exactMatch MESH:D001764 semapv:UnspecifiedMatching +DOID:529 blepharospasm oboInOwl:hasDbXref MESH:D001764 semapv:UnspecifiedMatching +DOID:529 blepharospasm oboInOwl:hasDbXref ICD10CM:G24.5 semapv:UnspecifiedMatching +DOID:529 blepharospasm oboInOwl:hasDbXref ICD9CM:333.81 semapv:UnspecifiedMatching +DOID:529 blepharospasm oboInOwl:hasDbXref GARD:5909 semapv:UnspecifiedMatching DOID:5292 mediastinum leiomyosarcoma oboInOwl:hasDbXref NCI:C6619 semapv:UnspecifiedMatching DOID:5292 mediastinum leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1334660 semapv:UnspecifiedMatching -DOID:5293 extrahepatic bile duct leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333508 semapv:UnspecifiedMatching DOID:5293 extrahepatic bile duct leiomyosarcoma oboInOwl:hasDbXref NCI:C5848 semapv:UnspecifiedMatching +DOID:5293 extrahepatic bile duct leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333508 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref ICD10CM:K63.9 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref ICD9CM:569.9 semapv:UnspecifiedMatching DOID:5295 intestinal disease oboInOwl:hasDbXref MESH:D007410 semapv:UnspecifiedMatching @@ -26129,143 +26154,143 @@ DOID:5295 intestinal disease oboInOwl:hasDbXref NCI:C26801 semapv:UnspecifiedMat DOID:5295 intestinal disease oboInOwl:hasDbXref UMLS_CUI:C0021831 semapv:UnspecifiedMatching DOID:5296 liver leiomyosarcoma oboInOwl:hasDbXref NCI:C5756 semapv:UnspecifiedMatching DOID:5296 liver leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333969 semapv:UnspecifiedMatching -DOID:5297 rectum leiomyosarcoma oboInOwl:hasDbXref NCI:C5549 semapv:UnspecifiedMatching DOID:5297 rectum leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335683 semapv:UnspecifiedMatching +DOID:5297 rectum leiomyosarcoma oboInOwl:hasDbXref NCI:C5549 semapv:UnspecifiedMatching DOID:5299 endometrial clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C8028 semapv:UnspecifiedMatching DOID:5299 endometrial clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279765 semapv:UnspecifiedMatching DOID:53 pituitary gland disease oboInOwl:hasDbXref ICD9CM:253.1 semapv:UnspecifiedMatching DOID:53 pituitary gland disease oboInOwl:hasDbXref UMLS_CUI:C0029493 semapv:UnspecifiedMatching -DOID:530 eyelid disease oboInOwl:hasDbXref UMLS_CUI:C0015423 semapv:UnspecifiedMatching -DOID:530 eyelid disease oboInOwl:hasDbXref NCI:C26768 semapv:UnspecifiedMatching -DOID:530 eyelid disease oboInOwl:hasDbXref ICD9CM:374.9 semapv:UnspecifiedMatching DOID:530 eyelid disease oboInOwl:hasDbXref ICD10CM:H02.9 semapv:UnspecifiedMatching +DOID:530 eyelid disease oboInOwl:hasDbXref ICD9CM:374.9 semapv:UnspecifiedMatching DOID:530 eyelid disease oboInOwl:hasDbXref MESH:D005141 semapv:UnspecifiedMatching +DOID:530 eyelid disease oboInOwl:hasDbXref NCI:C26768 semapv:UnspecifiedMatching +DOID:530 eyelid disease oboInOwl:hasDbXref UMLS_CUI:C0015423 semapv:UnspecifiedMatching DOID:5301 fallopian tube clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6280 semapv:UnspecifiedMatching DOID:5301 fallopian tube clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333591 semapv:UnspecifiedMatching DOID:5302 uterine ligament clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C40139 semapv:UnspecifiedMatching DOID:5302 uterine ligament clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557431 semapv:UnspecifiedMatching -DOID:5303 cervical clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6344 semapv:UnspecifiedMatching DOID:5303 cervical clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332912 semapv:UnspecifiedMatching +DOID:5303 cervical clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6344 semapv:UnspecifiedMatching DOID:5304 ovarian clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C40078 semapv:UnspecifiedMatching DOID:5304 ovarian clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518693 semapv:UnspecifiedMatching DOID:5306 bladder clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6179 semapv:UnspecifiedMatching DOID:5306 bladder clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332557 semapv:UnspecifiedMatching DOID:5307 urethra clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C6172 semapv:UnspecifiedMatching DOID:5307 urethra clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336886 semapv:UnspecifiedMatching -DOID:5308 ampulla of Vater clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332246 semapv:UnspecifiedMatching DOID:5308 ampulla of Vater clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C27414 semapv:UnspecifiedMatching +DOID:5308 ampulla of Vater clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332246 semapv:UnspecifiedMatching +DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334392 semapv:UnspecifiedMatching DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref ICDO:8562/3 semapv:UnspecifiedMatching DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref NCI:C4199 semapv:UnspecifiedMatching -DOID:5309 epithelial-myoepithelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334392 semapv:UnspecifiedMatching -DOID:5310 glycogen-rich clear cell breast carcinoma oboInOwl:hasDbXref NCI:C40368 semapv:UnspecifiedMatching DOID:5310 glycogen-rich clear cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C2012261 semapv:UnspecifiedMatching +DOID:5310 glycogen-rich clear cell breast carcinoma oboInOwl:hasDbXref NCI:C40368 semapv:UnspecifiedMatching DOID:5313 vulvar alveolar soft part sarcoma oboInOwl:hasDbXref NCI:C40320 semapv:UnspecifiedMatching DOID:5313 vulvar alveolar soft part sarcoma oboInOwl:hasDbXref UMLS_CUI:C1520069 semapv:UnspecifiedMatching DOID:5324 fallopian tube germ cell cancer oboInOwl:hasDbXref NCI:C40130 semapv:UnspecifiedMatching DOID:5324 fallopian tube germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1517114 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome oboInOwl:hasDbXref ORDO:3103 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome oboInOwl:hasDbXref UMLS_CUI:C0392475 semapv:UnspecifiedMatching -DOID:5325 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref GARD:7387 semapv:UnspecifiedMatching +DOID:5325 Roberts syndrome oboInOwl:hasDbXref MESH:C535687 semapv:UnspecifiedMatching DOID:5325 Roberts syndrome oboInOwl:hasDbXref NCI:C4681 semapv:UnspecifiedMatching -DOID:5327 retinal detachment oboInOwl:hasDbXref ICD10CM:H33.2 semapv:UnspecifiedMatching -DOID:5327 retinal detachment oboInOwl:hasDbXref ICD9CM:361.9 semapv:UnspecifiedMatching -DOID:5327 retinal detachment oboInOwl:hasDbXref MESH:D012163 semapv:UnspecifiedMatching +DOID:5325 Roberts syndrome oboInOwl:hasDbXref OMIM:268300 semapv:UnspecifiedMatching +DOID:5325 Roberts syndrome oboInOwl:hasDbXref ORDO:3103 semapv:UnspecifiedMatching +DOID:5325 Roberts syndrome oboInOwl:hasDbXref UMLS_CUI:C0392475 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref NCI:C26874 semapv:UnspecifiedMatching +DOID:5327 retinal detachment oboInOwl:hasDbXref MESH:D012163 semapv:UnspecifiedMatching DOID:5327 retinal detachment oboInOwl:hasDbXref UMLS_CUI:C0035305 semapv:UnspecifiedMatching -DOID:533 thymus gland disease oboInOwl:hasDbXref UMLS_CUI:C0154199 semapv:UnspecifiedMatching +DOID:5327 retinal detachment oboInOwl:hasDbXref ICD10CM:H33.2 semapv:UnspecifiedMatching +DOID:5327 retinal detachment oboInOwl:hasDbXref ICD9CM:361.9 semapv:UnspecifiedMatching DOID:533 thymus gland disease oboInOwl:hasDbXref NCI:C26962 semapv:UnspecifiedMatching +DOID:533 thymus gland disease oboInOwl:hasDbXref UMLS_CUI:C0154199 semapv:UnspecifiedMatching DOID:533 thymus gland disease oboInOwl:hasDbXref ICD10CM:E32 semapv:UnspecifiedMatching DOID:533 thymus gland disease oboInOwl:hasDbXref ICD9CM:254 semapv:UnspecifiedMatching +DOID:5330 dental pulp disease oboInOwl:hasDbXref UMLS_CUI:C0011405 semapv:UnspecifiedMatching DOID:5330 dental pulp disease oboInOwl:hasDbXref MESH:D003788 semapv:UnspecifiedMatching DOID:5330 dental pulp disease oboInOwl:hasDbXref NCI:C34530 semapv:UnspecifiedMatching -DOID:5330 dental pulp disease oboInOwl:hasDbXref UMLS_CUI:C0011405 semapv:UnspecifiedMatching DOID:5331 testicular granulosa cell tumor oboInOwl:hasDbXref NCI:C6357 semapv:UnspecifiedMatching DOID:5331 testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C1336709 semapv:UnspecifiedMatching -DOID:5334 paraphimosis oboInOwl:hasDbXref UMLS_CUI:C0030483 semapv:UnspecifiedMatching -DOID:5334 paraphimosis oboInOwl:hasDbXref MESH:D010263 semapv:UnspecifiedMatching DOID:5334 paraphimosis oboInOwl:hasDbXref ICD10CM:N47.2 semapv:UnspecifiedMatching +DOID:5334 paraphimosis oboInOwl:hasDbXref MESH:D010263 semapv:UnspecifiedMatching DOID:5334 paraphimosis oboInOwl:hasDbXref NCI:C34893 semapv:UnspecifiedMatching +DOID:5334 paraphimosis oboInOwl:hasDbXref UMLS_CUI:C0030483 semapv:UnspecifiedMatching DOID:5337 epulis oboInOwl:hasDbXref MESH:D005882 semapv:UnspecifiedMatching DOID:5337 epulis oboInOwl:hasDbXref NCI:C3948 semapv:UnspecifiedMatching DOID:5337 epulis oboInOwl:hasDbXref UMLS_CUI:C0266919 semapv:UnspecifiedMatching DOID:5338 gingival hypertrophy oboInOwl:hasDbXref MESH:D005886 semapv:UnspecifiedMatching DOID:5338 gingival hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0017567 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD10CM:D70.4 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD9CM:288.02 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref NCI:C3820 semapv:UnspecifiedMatching -DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref UMLS_CUI:C0221023 semapv:UnspecifiedMatching +DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching +DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref NCI:C3820 semapv:UnspecifiedMatching +DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref MESH:C536227 semapv:UnspecifiedMatching +DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD9CM:288.02 semapv:UnspecifiedMatching +DOID:5339 cyclic hematopoiesis oboInOwl:hasDbXref ICD10CM:D70.4 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref ICD10CM:R41.1 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref MESH:D020324 semapv:UnspecifiedMatching DOID:5340 anterograde amnesia oboInOwl:hasDbXref UMLS_CUI:C0233795 semapv:UnspecifiedMatching -DOID:5341 pineal region yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1335420 semapv:UnspecifiedMatching DOID:5341 pineal region yolk sac tumor oboInOwl:hasDbXref NCI:C6752 semapv:UnspecifiedMatching +DOID:5341 pineal region yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1335420 semapv:UnspecifiedMatching DOID:5342 childhood endodermal sinus tumor oboInOwl:hasDbXref NCI:C27364 semapv:UnspecifiedMatching DOID:5342 childhood endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1333016 semapv:UnspecifiedMatching DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref NCI:C6209 semapv:UnspecifiedMatching DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref NCI:C7011 semapv:UnspecifiedMatching DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1337040 semapv:UnspecifiedMatching DOID:5343 central nervous system endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1377613 semapv:UnspecifiedMatching -DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref GARD:348 semapv:UnspecifiedMatching -DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref NCI:C8000 semapv:UnspecifiedMatching DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C0279708 semapv:UnspecifiedMatching +DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref NCI:C8000 semapv:UnspecifiedMatching +DOID:5344 testicular yolk sac tumor oboInOwl:hasDbXref GARD:348 semapv:UnspecifiedMatching DOID:5345 testicular non-seminomatous germ cell cancer oboInOwl:hasDbXref NCI:C5027 semapv:UnspecifiedMatching DOID:5345 testicular non-seminomatous germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334625 semapv:UnspecifiedMatching DOID:5348 adult endodermal sinus tumor oboInOwl:hasDbXref NCI:C27241 semapv:UnspecifiedMatching DOID:5348 adult endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C1332221 semapv:UnspecifiedMatching -DOID:5349 central nervous system adult germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0280796 semapv:UnspecifiedMatching DOID:5349 central nervous system adult germ cell tumor oboInOwl:hasDbXref NCI:C6285 semapv:UnspecifiedMatching +DOID:5349 central nervous system adult germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0280796 semapv:UnspecifiedMatching DOID:535 sleep disorder oboInOwl:hasDbXref ICD9CM:307.4 semapv:UnspecifiedMatching DOID:535 sleep disorder oboInOwl:hasDbXref UMLS_CUI:C0154564 semapv:UnspecifiedMatching DOID:5350 ovarian endodermal sinus tumor oboInOwl:hasDbXref NCI:C8107 semapv:UnspecifiedMatching DOID:5350 ovarian endodermal sinus tumor oboInOwl:hasDbXref UMLS_CUI:C0346188 semapv:UnspecifiedMatching DOID:5351 ovarian primitive germ cell tumor oboInOwl:hasDbXref NCI:C39986 semapv:UnspecifiedMatching DOID:5351 ovarian primitive germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1518727 semapv:UnspecifiedMatching -DOID:5353 colonic disease oboInOwl:hasDbXref MESH:D003108 semapv:UnspecifiedMatching DOID:5353 colonic disease oboInOwl:hasDbXref UMLS_CUI:C0009373 semapv:UnspecifiedMatching +DOID:5353 colonic disease oboInOwl:hasDbXref MESH:D003108 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref MESH:D017573 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref NCI:C97083 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref OMIM:229045 semapv:UnspecifiedMatching DOID:5362 focal epithelial hyperplasia oboInOwl:hasDbXref UMLS_CUI:C0206067 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0206634 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ORDO:99967 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching -DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ICDO:8852/3 semapv:UnspecifiedMatching DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref GARD:7157 semapv:UnspecifiedMatching +DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ICDO:8852/3 semapv:UnspecifiedMatching +DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref MESH:D018208 semapv:UnspecifiedMatching +DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref OMIM:613488 semapv:UnspecifiedMatching +DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref ORDO:99967 semapv:UnspecifiedMatching +DOID:5363 myxoid liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0206634 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref ICD10CM:R91.1 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref MESH:D003074 semapv:UnspecifiedMatching DOID:5364 pulmonary coin lesion oboInOwl:hasDbXref UMLS_CUI:C0009250 semapv:UnspecifiedMatching DOID:5368 Wolffian duct adenocarcinoma oboInOwl:hasDbXref NCI:C40254 semapv:UnspecifiedMatching DOID:5368 Wolffian duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516419 semapv:UnspecifiedMatching -DOID:5370 breast hemangiopericytoma oboInOwl:hasDbXref NCI:C40396 semapv:UnspecifiedMatching DOID:5370 breast hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1511313 semapv:UnspecifiedMatching +DOID:5370 breast hemangiopericytoma oboInOwl:hasDbXref NCI:C40396 semapv:UnspecifiedMatching DOID:5373 retroperitoneal hemangiopericytoma oboInOwl:hasDbXref NCI:C5386 semapv:UnspecifiedMatching DOID:5373 retroperitoneal hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1335777 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma skos:exactMatch MESH:D018296 semapv:UnspecifiedMatching +DOID:5374 pilomatrixoma oboInOwl:hasDbXref GARD:9452 semapv:UnspecifiedMatching +DOID:5374 pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedMatching +DOID:5374 pilomatrixoma oboInOwl:hasDbXref NCI:C7368 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref OMIM:132600 semapv:UnspecifiedMatching DOID:5374 pilomatrixoma oboInOwl:hasDbXref UMLS_CUI:C0206711 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma oboInOwl:hasDbXref MESH:D018296 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma oboInOwl:hasDbXref GARD:9452 semapv:UnspecifiedMatching -DOID:5374 pilomatrixoma oboInOwl:hasDbXref NCI:C7368 semapv:UnspecifiedMatching +DOID:5374 pilomatrixoma skos:exactMatch MESH:D018296 semapv:UnspecifiedMatching DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref NCI:C7367 semapv:UnspecifiedMatching DOID:5375 hair follicle neoplasm oboInOwl:hasDbXref UMLS_CUI:C0859920 semapv:UnspecifiedMatching DOID:5376 skin pilomatrix carcinoma oboInOwl:hasDbXref NCI:C4114 semapv:UnspecifiedMatching DOID:5376 skin pilomatrix carcinoma oboInOwl:hasDbXref UMLS_CUI:C0585475 semapv:UnspecifiedMatching -DOID:5378 hemoglobin D disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:5378 hemoglobin D disease oboInOwl:hasDbXref NCI:C35344 semapv:UnspecifiedMatching DOID:5378 hemoglobin D disease oboInOwl:hasDbXref UMLS_CUI:C0272080 semapv:UnspecifiedMatching +DOID:5378 hemoglobin D disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref GARD:2641 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref ICD10CM:D58.2 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref NCI:C35287 semapv:UnspecifiedMatching DOID:5379 hemoglobin E disease oboInOwl:hasDbXref UMLS_CUI:C0238159 semapv:UnspecifiedMatching -DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.86 semapv:UnspecifiedMatching DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0152134 semapv:UnspecifiedMatching -DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref MESH:D015835 semapv:UnspecifiedMatching DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref ICD10CM:H51.2 semapv:UnspecifiedMatching +DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.86 semapv:UnspecifiedMatching +DOID:538 internuclear ophthalmoplegia oboInOwl:hasDbXref MESH:D015835 semapv:UnspecifiedMatching DOID:5381 bile duct adenoma oboInOwl:hasDbXref ICDO:8160/0 semapv:UnspecifiedMatching DOID:5381 bile duct adenoma oboInOwl:hasDbXref MESH:D002759 semapv:UnspecifiedMatching DOID:5381 bile duct adenoma oboInOwl:hasDbXref NCI:C2942 semapv:UnspecifiedMatching @@ -26273,48 +26298,48 @@ DOID:5381 bile duct adenoma oboInOwl:hasDbXref UMLS_CUI:C0008309 semapv:Unspecif DOID:5382 Bartholin's gland adenoma oboInOwl:hasDbXref NCI:C40299 semapv:UnspecifiedMatching DOID:5382 Bartholin's gland adenoma oboInOwl:hasDbXref UMLS_CUI:C1511048 semapv:UnspecifiedMatching DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref UMLS_CUI:C0334285 semapv:UnspecifiedMatching -DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref ICDO:8161/0 semapv:UnspecifiedMatching DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref NCI:C4129 semapv:UnspecifiedMatching +DOID:5384 bile duct cystadenoma oboInOwl:hasDbXref ICDO:8161/0 semapv:UnspecifiedMatching DOID:5385 mixed cell adenoma oboInOwl:hasDbXref ICDO:8323/0 semapv:UnspecifiedMatching DOID:5385 mixed cell adenoma oboInOwl:hasDbXref NCI:C4157 semapv:UnspecifiedMatching DOID:5385 mixed cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334323 semapv:UnspecifiedMatching DOID:5386 lung adenoma oboInOwl:hasDbXref NCI:C4455 semapv:UnspecifiedMatching DOID:5386 lung adenoma oboInOwl:hasDbXref UMLS_CUI:C0345964 semapv:UnspecifiedMatching -DOID:5387 middle ear adenoma oboInOwl:hasDbXref UMLS_CUI:C1334759 semapv:UnspecifiedMatching DOID:5387 middle ear adenoma oboInOwl:hasDbXref NCI:C6834 semapv:UnspecifiedMatching +DOID:5387 middle ear adenoma oboInOwl:hasDbXref UMLS_CUI:C1334759 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref ICDO:8290/0 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref MESH:D018249 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref NCI:C3759 semapv:UnspecifiedMatching DOID:5389 oxyphilic adenoma oboInOwl:hasDbXref UMLS_CUI:C1510502 semapv:UnspecifiedMatching -DOID:539 ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.56 semapv:UnspecifiedMatching -DOID:539 ophthalmoplegia oboInOwl:hasDbXref MESH:D009886 semapv:UnspecifiedMatching -DOID:539 ophthalmoplegia oboInOwl:hasDbXref NCI:C79697 semapv:UnspecifiedMatching -DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0029089 semapv:UnspecifiedMatching DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0155338 semapv:UnspecifiedMatching +DOID:539 ophthalmoplegia oboInOwl:hasDbXref UMLS_CUI:C0029089 semapv:UnspecifiedMatching +DOID:539 ophthalmoplegia oboInOwl:hasDbXref NCI:C79697 semapv:UnspecifiedMatching +DOID:539 ophthalmoplegia oboInOwl:hasDbXref MESH:D009886 semapv:UnspecifiedMatching +DOID:539 ophthalmoplegia oboInOwl:hasDbXref ICD9CM:378.56 semapv:UnspecifiedMatching DOID:5390 clear cell adenoma oboInOwl:hasDbXref ICDO:8310/0 semapv:UnspecifiedMatching DOID:5390 clear cell adenoma oboInOwl:hasDbXref NCI:C4151 semapv:UnspecifiedMatching DOID:5390 clear cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334315 semapv:UnspecifiedMatching DOID:5391 bronchus adenoma oboInOwl:hasDbXref NCI:C3494 semapv:UnspecifiedMatching DOID:5391 bronchus adenoma oboInOwl:hasDbXref UMLS_CUI:C0149845 semapv:UnspecifiedMatching -DOID:5392 acidophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0001433 semapv:UnspecifiedMatching -DOID:5392 acidophil adenoma oboInOwl:hasDbXref NCI:C6780 semapv:UnspecifiedMatching -DOID:5392 acidophil adenoma oboInOwl:hasDbXref MESH:D000239 semapv:UnspecifiedMatching DOID:5392 acidophil adenoma oboInOwl:hasDbXref ICDO:8280/0 semapv:UnspecifiedMatching +DOID:5392 acidophil adenoma oboInOwl:hasDbXref MESH:D000239 semapv:UnspecifiedMatching +DOID:5392 acidophil adenoma oboInOwl:hasDbXref NCI:C6780 semapv:UnspecifiedMatching +DOID:5392 acidophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0001433 semapv:UnspecifiedMatching DOID:5393 brain angioma oboInOwl:hasDbXref NCI:C7739 semapv:UnspecifiedMatching DOID:5393 brain angioma oboInOwl:hasDbXref UMLS_CUI:C0238814 semapv:UnspecifiedMatching -DOID:5394 prolactinoma oboInOwl:hasDbXref GARD:4508 semapv:UnspecifiedMatching DOID:5394 prolactinoma oboInOwl:hasDbXref MESH:D015175 semapv:UnspecifiedMatching DOID:5394 prolactinoma oboInOwl:hasDbXref NCI:C3342 semapv:UnspecifiedMatching +DOID:5394 prolactinoma oboInOwl:hasDbXref GARD:4508 semapv:UnspecifiedMatching DOID:5394 prolactinoma oboInOwl:hasDbXref UMLS_CUI:C0033375 semapv:UnspecifiedMatching -DOID:5395 functioning pituitary adenoma oboInOwl:hasDbXref NCI:C8388 semapv:UnspecifiedMatching DOID:5395 functioning pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0854486 semapv:UnspecifiedMatching +DOID:5395 functioning pituitary adenoma oboInOwl:hasDbXref NCI:C8388 semapv:UnspecifiedMatching DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref NCI:C5962 semapv:UnspecifiedMatching DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref NCI:C7910 semapv:UnspecifiedMatching DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref UMLS_CUI:C0278863 semapv:UnspecifiedMatching DOID:5396 prolactin producing pituitary tumor oboInOwl:hasDbXref UMLS_CUI:C1334614 semapv:UnspecifiedMatching -DOID:5398 lipoadenoma oboInOwl:hasDbXref UMLS_CUI:C0334325 semapv:UnspecifiedMatching DOID:5398 lipoadenoma oboInOwl:hasDbXref ICDO:8324/0 semapv:UnspecifiedMatching DOID:5398 lipoadenoma oboInOwl:hasDbXref NCI:C4159 semapv:UnspecifiedMatching +DOID:5398 lipoadenoma oboInOwl:hasDbXref UMLS_CUI:C0334325 semapv:UnspecifiedMatching DOID:540 strabismus oboInOwl:hasDbXref ICD10CM:H50.8 semapv:UnspecifiedMatching DOID:540 strabismus oboInOwl:hasDbXref ICD9CM:378.7 semapv:UnspecifiedMatching DOID:540 strabismus oboInOwl:hasDbXref UMLS_CUI:C0029831 semapv:UnspecifiedMatching @@ -26330,53 +26355,53 @@ DOID:5403 microcystic adenoma oboInOwl:hasDbXref NCI:C3685 semapv:UnspecifiedMat DOID:5403 microcystic adenoma oboInOwl:hasDbXref UMLS_CUI:C0205648 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref OMIM:602080 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref UMLS_CUI:C0029401 semapv:UnspecifiedMatching -DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ORDO:280110 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref OMIM:606263 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref OMIM:167250 semapv:UnspecifiedMatching -DOID:5408 Paget's disease of bone oboInOwl:hasDbXref EFO:0004261 semapv:UnspecifiedMatching +DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ORDO:280110 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref MESH:D010001 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref ICD10CM:M88 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref GARD:8615 semapv:UnspecifiedMatching +DOID:5408 Paget's disease of bone oboInOwl:hasDbXref EFO:0004261 semapv:UnspecifiedMatching DOID:5408 Paget's disease of bone oboInOwl:hasDbXref NCI:C3292 semapv:UnspecifiedMatching +DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0149925 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref OMIM:182280 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref KEGG:05222 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref MESH:D055752 semapv:UnspecifiedMatching DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref NCI:C4917 semapv:UnspecifiedMatching -DOID:5409 lung small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0149925 semapv:UnspecifiedMatching -DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334452 semapv:UnspecifiedMatching DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref NCI:C5670 semapv:UnspecifiedMatching +DOID:5410 pulmonary neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334452 semapv:UnspecifiedMatching DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref MESH:D018288 semapv:UnspecifiedMatching DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref NCI:C3915 semapv:UnspecifiedMatching DOID:5411 lung oat cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0262584 semapv:UnspecifiedMatching DOID:5414 lung occult small cell carcinoma oboInOwl:hasDbXref NCI:C6683 semapv:UnspecifiedMatching DOID:5414 lung occult small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335099 semapv:UnspecifiedMatching -DOID:5418 schizoaffective disorder oboInOwl:hasDbXref ICD10CM:F25 semapv:UnspecifiedMatching -DOID:5418 schizoaffective disorder oboInOwl:hasDbXref ICD9CM:295.7 semapv:UnspecifiedMatching +DOID:5418 schizoaffective disorder oboInOwl:hasDbXref UMLS_CUI:C0036337 semapv:UnspecifiedMatching DOID:5418 schizoaffective disorder oboInOwl:hasDbXref MESH:D011618 semapv:UnspecifiedMatching DOID:5418 schizoaffective disorder oboInOwl:hasDbXref NCI:C94378 semapv:UnspecifiedMatching -DOID:5418 schizoaffective disorder oboInOwl:hasDbXref UMLS_CUI:C0036337 semapv:UnspecifiedMatching +DOID:5418 schizoaffective disorder oboInOwl:hasDbXref ICD10CM:F25 semapv:UnspecifiedMatching +DOID:5418 schizoaffective disorder oboInOwl:hasDbXref ICD9CM:295.7 semapv:UnspecifiedMatching +DOID:5419 schizophrenia oboInOwl:hasDbXref EFO:0000692 semapv:UnspecifiedMatching +DOID:5419 schizophrenia oboInOwl:hasDbXref ICD10CM:F20 semapv:UnspecifiedMatching +DOID:5419 schizophrenia oboInOwl:hasDbXref ICD9CM:295 semapv:UnspecifiedMatching +DOID:5419 schizophrenia oboInOwl:hasDbXref MESH:D012559 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref NCI:C3362 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0036341 semapv:UnspecifiedMatching DOID:5419 schizophrenia oboInOwl:hasDbXref OMIM:181500 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref MESH:D012559 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref ICD9CM:295 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref ICD10CM:F20 semapv:UnspecifiedMatching -DOID:5419 schizophrenia oboInOwl:hasDbXref EFO:0000692 semapv:UnspecifiedMatching +DOID:5419 schizophrenia oboInOwl:hasDbXref UMLS_CUI:C0036341 semapv:UnspecifiedMatching DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref NCI:C9137 semapv:UnspecifiedMatching DOID:5421 lung combined type small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333125 semapv:UnspecifiedMatching -DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 semapv:UnspecifiedMatching +DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref MESH:D016471 semapv:UnspecifiedMatching DOID:5425 ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS_CUI:C0085083 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ICD10CM:E28.3 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref MESH:D016649 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref NCI:C113352 semapv:UnspecifiedMatching -DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref OMIMPS:311360 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ORDO:619 semapv:UnspecifiedMatching DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref UMLS_CUI:C0085215 semapv:UnspecifiedMatching +DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref OMIMPS:311360 semapv:UnspecifiedMatching +DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref NCI:C113352 semapv:UnspecifiedMatching +DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref MESH:D016649 semapv:UnspecifiedMatching +DOID:5426 primary ovarian insufficiency oboInOwl:hasDbXref ICD10CM:E28.3 semapv:UnspecifiedMatching DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref NCI:C7414 semapv:UnspecifiedMatching DOID:5427 urinary bladder villous adenoma oboInOwl:hasDbXref UMLS_CUI:C1336893 semapv:UnspecifiedMatching -DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref UMLS_CUI:C1332559 semapv:UnspecifiedMatching DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref NCI:C37266 semapv:UnspecifiedMatching +DOID:5429 bladder flat intraepithelial lesion oboInOwl:hasDbXref UMLS_CUI:C1332559 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref ICD10CM:G24 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref MESH:D004421 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref MESH:D020821 semapv:UnspecifiedMatching @@ -26385,12 +26410,12 @@ DOID:543 dystonia oboInOwl:hasDbXref OMIMPS:128100 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref UMLS_CUI:C0013421 semapv:UnspecifiedMatching DOID:543 dystonia oboInOwl:hasDbXref UMLS_CUI:C0393593 semapv:UnspecifiedMatching DOID:543 dystonia skos:exactMatch MESH:D004421 semapv:UnspecifiedMatching -DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref NCI:C39857 semapv:UnspecifiedMatching DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1511197 semapv:UnspecifiedMatching -DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335329 semapv:UnspecifiedMatching -DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334282 semapv:UnspecifiedMatching +DOID:5432 bladder papillary transitional cell neoplasm oboInOwl:hasDbXref NCI:C39857 semapv:UnspecifiedMatching DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref NCI:C27883 semapv:UnspecifiedMatching DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref NCI:C6192 semapv:UnspecifiedMatching +DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334282 semapv:UnspecifiedMatching +DOID:5433 urinary tract papillary transitional cell benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335329 semapv:UnspecifiedMatching DOID:5434 scrapie oboInOwl:hasDbXref MESH:D012608 semapv:UnspecifiedMatching DOID:5434 scrapie oboInOwl:hasDbXref UMLS_CUI:C0036457 semapv:UnspecifiedMatching DOID:5435 variant Creutzfeldt-Jakob disease oboInOwl:hasDbXref MESH:D016643 semapv:UnspecifiedMatching @@ -26400,26 +26425,26 @@ DOID:5437 intrahepatic bile duct adenoma oboInOwl:hasDbXref UMLS_CUI:C1331535 se DOID:5438 extrahepatic bile duct adenoma oboInOwl:hasDbXref NCI:C5857 semapv:UnspecifiedMatching DOID:5438 extrahepatic bile duct adenoma oboInOwl:hasDbXref UMLS_CUI:C1331534 semapv:UnspecifiedMatching DOID:5439 papillary hidradenoma oboInOwl:hasDbXref UMLS_CUI:C0334348 semapv:UnspecifiedMatching +DOID:5439 papillary hidradenoma oboInOwl:hasDbXref NCI:C4171 semapv:UnspecifiedMatching DOID:5439 papillary hidradenoma oboInOwl:hasDbXref ICDO:8405/0 semapv:UnspecifiedMatching DOID:5439 papillary hidradenoma oboInOwl:hasDbXref MESH:D000074009 semapv:UnspecifiedMatching -DOID:5439 papillary hidradenoma oboInOwl:hasDbXref NCI:C4171 semapv:UnspecifiedMatching -DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref UMLS_CUI:C0206671 semapv:UnspecifiedMatching DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref MESH:D018250 semapv:UnspecifiedMatching DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref NCI:C7568 semapv:UnspecifiedMatching +DOID:5442 eccrine acrospiroma oboInOwl:hasDbXref UMLS_CUI:C0206671 semapv:UnspecifiedMatching DOID:5443 clear cell hidradenoma oboInOwl:hasDbXref NCI:C7567 semapv:UnspecifiedMatching DOID:5443 clear cell hidradenoma oboInOwl:hasDbXref UMLS_CUI:C1370701 semapv:UnspecifiedMatching -DOID:5444 spiradenoma oboInOwl:hasDbXref ICDO:8403/0 semapv:UnspecifiedMatching DOID:5444 spiradenoma oboInOwl:hasDbXref NCI:C4170 semapv:UnspecifiedMatching +DOID:5444 spiradenoma oboInOwl:hasDbXref ICDO:8403/0 semapv:UnspecifiedMatching DOID:5444 spiradenoma oboInOwl:hasDbXref UMLS_CUI:C0334347 semapv:UnspecifiedMatching -DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref GARD:5100 semapv:UnspecifiedMatching -DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref ICDO:8406/0 semapv:UnspecifiedMatching -DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref MESH:D000074009 semapv:UnspecifiedMatching DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref NCI:C4172 semapv:UnspecifiedMatching +DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref MESH:D000074009 semapv:UnspecifiedMatching DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref UMLS_CUI:C0406803 semapv:UnspecifiedMatching -DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref NCI:C4173 semapv:UnspecifiedMatching +DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref GARD:5100 semapv:UnspecifiedMatching +DOID:5445 syringocystadenoma papilliferum oboInOwl:hasDbXref ICDO:8406/0 semapv:UnspecifiedMatching DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C0334350 semapv:UnspecifiedMatching -DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref ICDO:8408/0 semapv:UnspecifiedMatching +DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref NCI:C4173 semapv:UnspecifiedMatching DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref GARD:10463 semapv:UnspecifiedMatching +DOID:5446 eccrine papillary adenoma oboInOwl:hasDbXref ICDO:8408/0 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref GARD:10153 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref MESH:D011668 semapv:UnspecifiedMatching DOID:5453 pulmonary venoocclusive disease oboInOwl:hasDbXref NCI:C85039 semapv:UnspecifiedMatching @@ -26430,17 +26455,17 @@ DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref NCI:C6023 semapv:Uns DOID:5457 laryngeal neuroendocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334374 semapv:UnspecifiedMatching DOID:5463 cochlear disease oboInOwl:hasDbXref MESH:D015834 semapv:UnspecifiedMatching DOID:5463 cochlear disease oboInOwl:hasDbXref UMLS_CUI:C0009197 semapv:UnspecifiedMatching -DOID:5465 conjunctival intraepithelial neoplasm oboInOwl:hasDbXref NCI:C6120 semapv:UnspecifiedMatching DOID:5465 conjunctival intraepithelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333148 semapv:UnspecifiedMatching -DOID:5467 conjunctival cancer oboInOwl:hasDbXref NCI:C3564 semapv:UnspecifiedMatching +DOID:5465 conjunctival intraepithelial neoplasm oboInOwl:hasDbXref NCI:C6120 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref UMLS_CUI:C0009761 semapv:UnspecifiedMatching -DOID:5467 conjunctival cancer oboInOwl:hasDbXref NCI:C2961 semapv:UnspecifiedMatching +DOID:5467 conjunctival cancer oboInOwl:hasDbXref NCI:C3564 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref UMLS_CUI:C0153628 semapv:UnspecifiedMatching +DOID:5467 conjunctival cancer oboInOwl:hasDbXref NCI:C2961 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref ICD9CM:190.3 semapv:UnspecifiedMatching -DOID:5467 conjunctival cancer oboInOwl:hasDbXref ICD10CM:C69.0 semapv:UnspecifiedMatching DOID:5467 conjunctival cancer oboInOwl:hasDbXref MESH:D003230 semapv:UnspecifiedMatching -DOID:5468 biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1266038 semapv:UnspecifiedMatching +DOID:5467 conjunctival cancer oboInOwl:hasDbXref ICD10CM:C69.0 semapv:UnspecifiedMatching DOID:5468 biliary papillomatosis oboInOwl:hasDbXref NCI:C65198 semapv:UnspecifiedMatching +DOID:5468 biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1266038 semapv:UnspecifiedMatching DOID:5469 biliary tract intraductal papillary mucinous neoplasm oboInOwl:hasDbXref NCI:C37215 semapv:UnspecifiedMatching DOID:5474 ovarian serous adenofibroma oboInOwl:hasDbXref NCI:C40031 semapv:UnspecifiedMatching DOID:5474 ovarian serous adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518729 semapv:UnspecifiedMatching @@ -26448,10 +26473,10 @@ DOID:5475 uterine corpus adenofibroma oboInOwl:hasDbXref NCI:C6337 semapv:Unspec DOID:5475 uterine corpus adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1336901 semapv:UnspecifiedMatching DOID:5476 cervical adenofibroma oboInOwl:hasDbXref NCI:C40230 semapv:UnspecifiedMatching DOID:5476 cervical adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1516402 semapv:UnspecifiedMatching +DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334317 semapv:UnspecifiedMatching +DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref NCI:C8985 semapv:UnspecifiedMatching DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref ICDO:8313/0 semapv:UnspecifiedMatching DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref MESH:D062625 semapv:UnspecifiedMatching -DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref NCI:C8985 semapv:UnspecifiedMatching -DOID:5477 clear cell adenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334317 semapv:UnspecifiedMatching DOID:5478 fallopian tube adenofibroma oboInOwl:hasDbXref NCI:C40113 semapv:UnspecifiedMatching DOID:5478 fallopian tube adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1517109 semapv:UnspecifiedMatching DOID:5479 papillary adenofibroma oboInOwl:hasDbXref NCI:C8986 semapv:UnspecifiedMatching @@ -26462,64 +26487,64 @@ DOID:5482 cystadenofibroma oboInOwl:hasDbXref NCI:C8985 semapv:UnspecifiedMatchi DOID:5482 cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C0334317 semapv:UnspecifiedMatching DOID:5484 fibrous synovial sarcoma oboInOwl:hasDbXref NCI:C6533 semapv:UnspecifiedMatching DOID:5484 fibrous synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333616 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma oboInOwl:hasDbXref GARD:7721 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma oboInOwl:hasDbXref ICDO:9040/3 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma oboInOwl:hasDbXref MESH:D013584 semapv:UnspecifiedMatching -DOID:5485 synovial sarcoma oboInOwl:hasDbXref NCI:C3400 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref OMIM:300813 semapv:UnspecifiedMatching +DOID:5485 synovial sarcoma oboInOwl:hasDbXref NCI:C3400 semapv:UnspecifiedMatching DOID:5485 synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0039101 semapv:UnspecifiedMatching +DOID:5485 synovial sarcoma oboInOwl:hasDbXref ICDO:9040/3 semapv:UnspecifiedMatching +DOID:5485 synovial sarcoma oboInOwl:hasDbXref MESH:D013584 semapv:UnspecifiedMatching +DOID:5485 synovial sarcoma oboInOwl:hasDbXref GARD:7721 semapv:UnspecifiedMatching DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref NCI:C4277 semapv:UnspecifiedMatching DOID:5487 spindle cell synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334505 semapv:UnspecifiedMatching DOID:5488 mediastinum synovial sarcoma oboInOwl:hasDbXref NCI:C6618 semapv:UnspecifiedMatching DOID:5488 mediastinum synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334681 semapv:UnspecifiedMatching -DOID:5492 biphasic synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334507 semapv:UnspecifiedMatching DOID:5492 biphasic synovial sarcoma oboInOwl:hasDbXref NCI:C4279 semapv:UnspecifiedMatching +DOID:5492 biphasic synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334507 semapv:UnspecifiedMatching DOID:5494 epithelioid cell synovial sarcoma oboInOwl:hasDbXref NCI:C4278 semapv:UnspecifiedMatching DOID:5494 epithelioid cell synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C0334506 semapv:UnspecifiedMatching DOID:5495 monophasic synovial sarcoma oboInOwl:hasDbXref NCI:C6534 semapv:UnspecifiedMatching DOID:5495 monophasic synovial sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334801 semapv:UnspecifiedMatching +DOID:5500 cellular ependymoma oboInOwl:hasDbXref UMLS_CUI:C1384403 semapv:UnspecifiedMatching DOID:5500 cellular ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:5500 cellular ependymoma oboInOwl:hasDbXref NCI:C4713 semapv:UnspecifiedMatching -DOID:5500 cellular ependymoma oboInOwl:hasDbXref UMLS_CUI:C1384403 semapv:UnspecifiedMatching +DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref UMLS_CUI:C0030757 semapv:UnspecifiedMatching DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref ICD10CM:B85.0 semapv:UnspecifiedMatching DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref ICD9CM:132.0 semapv:UnspecifiedMatching -DOID:5501 Pediculus humanus capitis infestation oboInOwl:hasDbXref UMLS_CUI:C0030757 semapv:UnspecifiedMatching -DOID:5502 lice infestation oboInOwl:hasDbXref NCI:C128401 semapv:UnspecifiedMatching -DOID:5502 lice infestation oboInOwl:hasDbXref MESH:D010373 semapv:UnspecifiedMatching -DOID:5502 lice infestation oboInOwl:hasDbXref UMLS_CUI:C0030756 semapv:UnspecifiedMatching DOID:5502 lice infestation oboInOwl:hasDbXref ICD10CM:B85.2 semapv:UnspecifiedMatching DOID:5502 lice infestation oboInOwl:hasDbXref ICD9CM:132.9 semapv:UnspecifiedMatching +DOID:5502 lice infestation oboInOwl:hasDbXref MESH:D010373 semapv:UnspecifiedMatching +DOID:5502 lice infestation oboInOwl:hasDbXref NCI:C128401 semapv:UnspecifiedMatching +DOID:5502 lice infestation oboInOwl:hasDbXref UMLS_CUI:C0030756 semapv:UnspecifiedMatching DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref ICDO:9391/3 semapv:UnspecifiedMatching DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref NCI:C3875 semapv:UnspecifiedMatching DOID:5503 spinal cord ependymoma oboInOwl:hasDbXref UMLS_CUI:C0238432 semapv:UnspecifiedMatching DOID:5504 tanycytic ependymoma oboInOwl:hasDbXref NCI:C6903 semapv:UnspecifiedMatching DOID:5504 tanycytic ependymoma oboInOwl:hasDbXref UMLS_CUI:C1370500 semapv:UnspecifiedMatching -DOID:5505 papillary ependymoma oboInOwl:hasDbXref UMLS_CUI:C0334578 semapv:UnspecifiedMatching DOID:5505 papillary ependymoma oboInOwl:hasDbXref NCI:C4319 semapv:UnspecifiedMatching -DOID:5505 papillary ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching DOID:5505 papillary ependymoma oboInOwl:hasDbXref ICDO:9393/3 semapv:UnspecifiedMatching -DOID:5508 brain stem ependymoma oboInOwl:hasDbXref NCI:C5098 semapv:UnspecifiedMatching +DOID:5505 papillary ependymoma oboInOwl:hasDbXref MESH:D004806 semapv:UnspecifiedMatching +DOID:5505 papillary ependymoma oboInOwl:hasDbXref UMLS_CUI:C0334578 semapv:UnspecifiedMatching DOID:5508 brain stem ependymoma oboInOwl:hasDbXref UMLS_CUI:C1332609 semapv:UnspecifiedMatching +DOID:5508 brain stem ependymoma oboInOwl:hasDbXref NCI:C5098 semapv:UnspecifiedMatching DOID:5509 childhood ependymoma oboInOwl:hasDbXref NCI:C8578 semapv:UnspecifiedMatching -DOID:551 toxic pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0041881 semapv:UnspecifiedMatching DOID:551 toxic pneumonitis oboInOwl:hasDbXref ICD9CM:506.9 semapv:UnspecifiedMatching -DOID:5510 pineal dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C1335415 semapv:UnspecifiedMatching +DOID:551 toxic pneumonitis oboInOwl:hasDbXref UMLS_CUI:C0041881 semapv:UnspecifiedMatching DOID:5510 pineal dysgerminoma oboInOwl:hasDbXref NCI:C7169 semapv:UnspecifiedMatching +DOID:5510 pineal dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C1335415 semapv:UnspecifiedMatching DOID:5511 dysgerminoma of ovary oboInOwl:hasDbXref NCI:C8106 semapv:UnspecifiedMatching DOID:5511 dysgerminoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346185 semapv:UnspecifiedMatching +DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref UMLS_CUI:C0030758 semapv:UnspecifiedMatching DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref ICD10CM:B85.1 semapv:UnspecifiedMatching DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref ICD9CM:132.1 semapv:UnspecifiedMatching -DOID:5513 Pediculus humanus corporis infestation oboInOwl:hasDbXref UMLS_CUI:C0030758 semapv:UnspecifiedMatching DOID:5514 breast squamous cell carcinoma oboInOwl:hasDbXref NCI:C5177 semapv:UnspecifiedMatching DOID:5514 breast squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336079 semapv:UnspecifiedMatching +DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280333 semapv:UnspecifiedMatching DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref NCI:C8192 semapv:UnspecifiedMatching -DOID:5515 nasal cavity squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280333 semapv:UnspecifiedMatching -DOID:5516 gastric squamous cell carcinoma oboInOwl:hasDbXref NCI:C5475 semapv:UnspecifiedMatching DOID:5516 gastric squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333789 semapv:UnspecifiedMatching +DOID:5516 gastric squamous cell carcinoma oboInOwl:hasDbXref NCI:C5475 semapv:UnspecifiedMatching +DOID:5517 stomach carcinoma oboInOwl:hasDbXref EFO:0000178 semapv:UnspecifiedMatching DOID:5517 stomach carcinoma oboInOwl:hasDbXref NCI:C4911 semapv:UnspecifiedMatching DOID:5517 stomach carcinoma oboInOwl:hasDbXref UMLS_CUI:C0699791 semapv:UnspecifiedMatching -DOID:5517 stomach carcinoma oboInOwl:hasDbXref EFO:0000178 semapv:UnspecifiedMatching DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref NCI:C6979 semapv:UnspecifiedMatching DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref NCI:C7729 semapv:UnspecifiedMatching DOID:5518 penis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238348 semapv:UnspecifiedMatching @@ -26529,13 +26554,13 @@ DOID:5519 colon squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333100 sem DOID:552 pneumonia oboInOwl:hasDbXref MESH:D011014 semapv:UnspecifiedMatching DOID:552 pneumonia oboInOwl:hasDbXref NCI:C3333 semapv:UnspecifiedMatching DOID:552 pneumonia oboInOwl:hasDbXref UMLS_CUI:C0032285 semapv:UnspecifiedMatching +DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching +DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1168401 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref GARD:8503 semapv:UnspecifiedMatching -DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref MESH:D000077195 semapv:UnspecifiedMatching DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref NCI:C34447 semapv:UnspecifiedMatching -DOID:5520 head and neck squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1168401 semapv:UnspecifiedMatching -DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334247 semapv:UnspecifiedMatching DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C4105 semapv:UnspecifiedMatching +DOID:5521 keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334247 semapv:UnspecifiedMatching DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref ICDO:8083/3 semapv:UnspecifiedMatching DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C54244 semapv:UnspecifiedMatching DOID:5522 basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1266005 semapv:UnspecifiedMatching @@ -26544,14 +26569,14 @@ DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334250 s DOID:5524 adenoid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334393 semapv:UnspecifiedMatching DOID:5525 anal squamous cell carcinoma oboInOwl:hasDbXref NCI:C9161 semapv:UnspecifiedMatching DOID:5525 anal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412036 semapv:UnspecifiedMatching -DOID:5526 middle ear squamous cell carcinoma oboInOwl:hasDbXref NCI:C6086 semapv:UnspecifiedMatching DOID:5526 middle ear squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334762 semapv:UnspecifiedMatching -DOID:5527 ampulla of Vater squamous cell carcinoma oboInOwl:hasDbXref NCI:C27417 semapv:UnspecifiedMatching +DOID:5526 middle ear squamous cell carcinoma oboInOwl:hasDbXref NCI:C6086 semapv:UnspecifiedMatching DOID:5527 ampulla of Vater squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332251 semapv:UnspecifiedMatching -DOID:5528 rectum squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335690 semapv:UnspecifiedMatching +DOID:5527 ampulla of Vater squamous cell carcinoma oboInOwl:hasDbXref NCI:C27417 semapv:UnspecifiedMatching DOID:5528 rectum squamous cell carcinoma oboInOwl:hasDbXref NCI:C5554 semapv:UnspecifiedMatching -DOID:5529 lacrimal gland squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C5447980 semapv:UnspecifiedMatching +DOID:5528 rectum squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335690 semapv:UnspecifiedMatching DOID:5529 lacrimal gland squamous cell carcinoma oboInOwl:hasDbXref NCI:C6092 semapv:UnspecifiedMatching +DOID:5529 lacrimal gland squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C5447980 semapv:UnspecifiedMatching DOID:5530 thymus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6455 semapv:UnspecifiedMatching DOID:5530 thymus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336082 semapv:UnspecifiedMatching DOID:5531 ovarian squamous cell carcinoma oboInOwl:hasDbXref NCI:C40093 semapv:UnspecifiedMatching @@ -26560,14 +26585,14 @@ DOID:5533 endometrial squamous cell carcinoma oboInOwl:hasDbXref NCI:C8719 semap DOID:5533 endometrial squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333396 semapv:UnspecifiedMatching DOID:5534 renal pelvis squamous cell carcinoma oboInOwl:hasDbXref NCI:C7732 semapv:UnspecifiedMatching DOID:5534 renal pelvis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238409 semapv:UnspecifiedMatching -DOID:5535 gallbladder squamous cell carcinoma oboInOwl:hasDbXref NCI:C9170 semapv:UnspecifiedMatching DOID:5535 gallbladder squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279658 semapv:UnspecifiedMatching -DOID:5536 sarcomatoid squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C27084 semapv:UnspecifiedMatching +DOID:5535 gallbladder squamous cell carcinoma oboInOwl:hasDbXref NCI:C9170 semapv:UnspecifiedMatching DOID:5536 sarcomatoid squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0349656 semapv:UnspecifiedMatching -DOID:5537 squamous cell bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861861 semapv:UnspecifiedMatching +DOID:5536 sarcomatoid squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C27084 semapv:UnspecifiedMatching DOID:5537 squamous cell bile duct carcinoma oboInOwl:hasDbXref NCI:C5777 semapv:UnspecifiedMatching -DOID:5538 external ear squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333494 semapv:UnspecifiedMatching +DOID:5537 squamous cell bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861861 semapv:UnspecifiedMatching DOID:5538 external ear squamous cell carcinoma oboInOwl:hasDbXref NCI:C6083 semapv:UnspecifiedMatching +DOID:5538 external ear squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333494 semapv:UnspecifiedMatching DOID:5539 ureter squamous cell carcinoma oboInOwl:hasDbXref NCI:C6154 semapv:UnspecifiedMatching DOID:5539 ureter squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336879 semapv:UnspecifiedMatching DOID:5540 fallopian tube squamous cell carcinoma oboInOwl:hasDbXref NCI:C6282 semapv:UnspecifiedMatching @@ -26578,91 +26603,91 @@ DOID:5546 femoral cancer oboInOwl:hasDbXref MESH:D005266 semapv:UnspecifiedMatch DOID:5546 femoral cancer oboInOwl:hasDbXref UMLS_CUI:C0015807 semapv:UnspecifiedMatching DOID:5547 pulmonary artery choriocarcinoma oboInOwl:hasDbXref NCI:C5381 semapv:UnspecifiedMatching DOID:5547 pulmonary artery choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335571 semapv:UnspecifiedMatching -DOID:5550 choriocarcinoma of ovary oboInOwl:hasDbXref NCI:C4515 semapv:UnspecifiedMatching DOID:5550 choriocarcinoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346181 semapv:UnspecifiedMatching +DOID:5550 choriocarcinoma of ovary oboInOwl:hasDbXref NCI:C4515 semapv:UnspecifiedMatching DOID:5551 choriocarcinoma of the testis oboInOwl:hasDbXref NCI:C7733 semapv:UnspecifiedMatching DOID:5551 choriocarcinoma of the testis oboInOwl:hasDbXref UMLS_CUI:C0238449 semapv:UnspecifiedMatching -DOID:5553 pineal region choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335414 semapv:UnspecifiedMatching DOID:5553 pineal region choriocarcinoma oboInOwl:hasDbXref NCI:C6759 semapv:UnspecifiedMatching +DOID:5553 pineal region choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335414 semapv:UnspecifiedMatching DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref NCI:C9063 semapv:UnspecifiedMatching DOID:5556 testicular malignant germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C0855197 semapv:UnspecifiedMatching -DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1336708 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref MESH:C563236 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref NCI:C8591 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref OMIM:273300 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref OMIM:300228 semapv:UnspecifiedMatching DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref ORDO:3636504 semapv:UnspecifiedMatching +DOID:5557 testicular germ cell cancer oboInOwl:hasDbXref UMLS_CUI:C1336708 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref UMLS_CUI:C0025063 semapv:UnspecifiedMatching -DOID:5559 mediastinal cancer oboInOwl:hasDbXref NCI:C3549 semapv:UnspecifiedMatching -DOID:5559 mediastinal cancer oboInOwl:hasDbXref NCI:C3221 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref UMLS_CUI:C0153504 semapv:UnspecifiedMatching -DOID:5559 mediastinal cancer oboInOwl:hasDbXref ICD9CM:164.9 semapv:UnspecifiedMatching +DOID:5559 mediastinal cancer oboInOwl:hasDbXref NCI:C3549 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref ICD10CM:C38.3 semapv:UnspecifiedMatching DOID:5559 mediastinal cancer oboInOwl:hasDbXref MESH:D008479 semapv:UnspecifiedMatching -DOID:5560 mediastinal mesenchymal tumor oboInOwl:hasDbXref UMLS_CUI:C1334669 semapv:UnspecifiedMatching +DOID:5559 mediastinal cancer oboInOwl:hasDbXref ICD9CM:164.9 semapv:UnspecifiedMatching +DOID:5559 mediastinal cancer oboInOwl:hasDbXref NCI:C3221 semapv:UnspecifiedMatching DOID:5560 mediastinal mesenchymal tumor oboInOwl:hasDbXref NCI:C6637 semapv:UnspecifiedMatching +DOID:5560 mediastinal mesenchymal tumor oboInOwl:hasDbXref UMLS_CUI:C1334669 semapv:UnspecifiedMatching DOID:5561 gastric teratoma oboInOwl:hasDbXref NCI:C5259 semapv:UnspecifiedMatching DOID:5561 gastric teratoma oboInOwl:hasDbXref UMLS_CUI:C1333790 semapv:UnspecifiedMatching -DOID:5563 malignant teratoma oboInOwl:hasDbXref ICDO:9080/3 semapv:UnspecifiedMatching -DOID:5563 malignant teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching -DOID:5563 malignant teratoma oboInOwl:hasDbXref NCI:C4286 semapv:UnspecifiedMatching -DOID:5563 malignant teratoma oboInOwl:hasDbXref NCI:C8884 semapv:UnspecifiedMatching DOID:5563 malignant teratoma oboInOwl:hasDbXref UMLS_CUI:C0334520 semapv:UnspecifiedMatching +DOID:5563 malignant teratoma oboInOwl:hasDbXref NCI:C8884 semapv:UnspecifiedMatching DOID:5563 malignant teratoma oboInOwl:hasDbXref UMLS_CUI:C0855163 semapv:UnspecifiedMatching +DOID:5563 malignant teratoma oboInOwl:hasDbXref MESH:D013724 semapv:UnspecifiedMatching +DOID:5563 malignant teratoma oboInOwl:hasDbXref ICDO:9080/3 semapv:UnspecifiedMatching +DOID:5563 malignant teratoma oboInOwl:hasDbXref NCI:C4286 semapv:UnspecifiedMatching DOID:5564 fallopian tube teratoma oboInOwl:hasDbXref NCI:C40131 semapv:UnspecifiedMatching DOID:5564 fallopian tube teratoma oboInOwl:hasDbXref UMLS_CUI:C1517127 semapv:UnspecifiedMatching DOID:5565 adult teratoma oboInOwl:hasDbXref NCI:C9013 semapv:UnspecifiedMatching DOID:5565 adult teratoma oboInOwl:hasDbXref UMLS_CUI:C1368898 semapv:UnspecifiedMatching +DOID:5566 mature teratoma oboInOwl:hasDbXref ICDO:9080/0 semapv:UnspecifiedMatching DOID:5566 mature teratoma oboInOwl:hasDbXref NCI:C9015 semapv:UnspecifiedMatching DOID:5566 mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1368910 semapv:UnspecifiedMatching -DOID:5566 mature teratoma oboInOwl:hasDbXref ICDO:9080/0 semapv:UnspecifiedMatching DOID:5567 ovarian germ cell teratoma oboInOwl:hasDbXref NCI:C8110 semapv:UnspecifiedMatching DOID:5567 ovarian germ cell teratoma oboInOwl:hasDbXref UMLS_CUI:C0280131 semapv:UnspecifiedMatching DOID:5568 mediastinum teratoma oboInOwl:hasDbXref NCI:C6438 semapv:UnspecifiedMatching DOID:5568 mediastinum teratoma oboInOwl:hasDbXref UMLS_CUI:C1334682 semapv:UnspecifiedMatching -DOID:557 kidney disease oboInOwl:hasDbXref EFO:0003086 semapv:UnspecifiedMatching -DOID:557 kidney disease oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching -DOID:557 kidney disease oboInOwl:hasDbXref MESH:D007674 semapv:UnspecifiedMatching DOID:557 kidney disease oboInOwl:hasDbXref NCI:C3149 semapv:UnspecifiedMatching +DOID:557 kidney disease oboInOwl:hasDbXref MESH:D007674 semapv:UnspecifiedMatching DOID:557 kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022658 semapv:UnspecifiedMatching +DOID:557 kidney disease oboInOwl:hasDbXref EFO:0003086 semapv:UnspecifiedMatching +DOID:557 kidney disease oboInOwl:hasDbXref ICD10CM:N08 semapv:UnspecifiedMatching DOID:5570 malignant acrospiroma oboInOwl:hasDbXref NCI:C43345 semapv:UnspecifiedMatching DOID:5570 malignant acrospiroma oboInOwl:hasDbXref UMLS_CUI:C1260964 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref GARD:3343 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref NCI:C34415 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ORDO:116 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome skos:exactMatch MESH:D001506 semapv:UnspecifiedMatching DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref UMLS_CUI:C0004903 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref NCI:C34415 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref MESH:D001506 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref ICD10CM:Q87.3 semapv:UnspecifiedMatching -DOID:5572 Beckwith-Wiedemann syndrome oboInOwl:hasDbXref GARD:3343 semapv:UnspecifiedMatching +DOID:5572 Beckwith-Wiedemann syndrome skos:exactMatch MESH:D001506 semapv:UnspecifiedMatching +DOID:5574 VIPoma oboInOwl:hasDbXref UMLS_CUI:C0011993 semapv:UnspecifiedMatching +DOID:5574 VIPoma oboInOwl:hasDbXref NCI:C26749 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref GARD:5493 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref ICDO:8155/3 semapv:UnspecifiedMatching DOID:5574 VIPoma oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching -DOID:5574 VIPoma oboInOwl:hasDbXref NCI:C26749 semapv:UnspecifiedMatching -DOID:5574 VIPoma oboInOwl:hasDbXref UMLS_CUI:C0011993 semapv:UnspecifiedMatching DOID:5576 inhibited male orgasm oboInOwl:hasDbXref ICD10CM:F52.32 semapv:UnspecifiedMatching DOID:5576 inhibited male orgasm oboInOwl:hasDbXref NCI:C34959 semapv:UnspecifiedMatching DOID:5576 inhibited male orgasm oboInOwl:hasDbXref UMLS_CUI:C0033949 semapv:UnspecifiedMatching -DOID:5577 gastrinoma oboInOwl:hasDbXref UMLS_CUI:C0017150 semapv:UnspecifiedMatching -DOID:5577 gastrinoma oboInOwl:hasDbXref NCI:C3050 semapv:UnspecifiedMatching DOID:5577 gastrinoma oboInOwl:hasDbXref ICDO:8153/3 semapv:UnspecifiedMatching DOID:5577 gastrinoma oboInOwl:hasDbXref MESH:D015408 semapv:UnspecifiedMatching +DOID:5577 gastrinoma oboInOwl:hasDbXref NCI:C3050 semapv:UnspecifiedMatching +DOID:5577 gastrinoma oboInOwl:hasDbXref UMLS_CUI:C0017150 semapv:UnspecifiedMatching DOID:5579 gastric gastrinoma oboInOwl:hasDbXref NCI:C27444 semapv:UnspecifiedMatching DOID:5579 gastric gastrinoma oboInOwl:hasDbXref UMLS_CUI:C1333767 semapv:UnspecifiedMatching DOID:5580 pancreatic gastrinoma oboInOwl:hasDbXref NCI:C9069 semapv:UnspecifiedMatching DOID:5580 pancreatic gastrinoma oboInOwl:hasDbXref UMLS_CUI:C1368066 semapv:UnspecifiedMatching -DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref MESH:D018286 semapv:UnspecifiedMatching -DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref NCI:C3779 semapv:UnspecifiedMatching -DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref NCI:C4452 semapv:UnspecifiedMatching DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0206703 semapv:UnspecifiedMatching DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345960 semapv:UnspecifiedMatching +DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref NCI:C4452 semapv:UnspecifiedMatching +DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref MESH:D018286 semapv:UnspecifiedMatching +DOID:5583 lung giant cell carcinoma oboInOwl:hasDbXref NCI:C3779 semapv:UnspecifiedMatching DOID:5585 Ferguson-Smith tumor oboInOwl:hasDbXref NCI:C4461 semapv:UnspecifiedMatching DOID:5585 Ferguson-Smith tumor oboInOwl:hasDbXref UMLS_CUI:C0345982 semapv:UnspecifiedMatching -DOID:5587 Volkmann contracture oboInOwl:hasDbXref NCI:C35130 semapv:UnspecifiedMatching -DOID:5587 Volkmann contracture oboInOwl:hasDbXref MESH:D054061 semapv:UnspecifiedMatching -DOID:5587 Volkmann contracture oboInOwl:hasDbXref UMLS_CUI:C0042951 semapv:UnspecifiedMatching DOID:5587 Volkmann contracture oboInOwl:hasDbXref ICD10CM:T79.6 semapv:UnspecifiedMatching DOID:5587 Volkmann contracture oboInOwl:hasDbXref ICD9CM:958.6 semapv:UnspecifiedMatching +DOID:5587 Volkmann contracture oboInOwl:hasDbXref MESH:D054061 semapv:UnspecifiedMatching +DOID:5587 Volkmann contracture oboInOwl:hasDbXref NCI:C35130 semapv:UnspecifiedMatching +DOID:5587 Volkmann contracture oboInOwl:hasDbXref UMLS_CUI:C0042951 semapv:UnspecifiedMatching DOID:5588 lung papillary adenocarcinoma oboInOwl:hasDbXref NCI:C5650 semapv:UnspecifiedMatching DOID:5588 lung papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335325 semapv:UnspecifiedMatching DOID:559 acute pyelonephritis oboInOwl:hasDbXref ICD10CM:N10 semapv:UnspecifiedMatching @@ -26676,8 +26701,8 @@ DOID:5593 gastric papillary adenocarcinoma oboInOwl:hasDbXref NCI:C5472 semapv:U DOID:5593 gastric papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333785 semapv:UnspecifiedMatching DOID:5595 papillary thymic adenocarcinoma oboInOwl:hasDbXref NCI:C27937 semapv:UnspecifiedMatching DOID:5595 papillary thymic adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335327 semapv:UnspecifiedMatching -DOID:5597 fallopian tube papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333595 semapv:UnspecifiedMatching DOID:5597 fallopian tube papillary adenocarcinoma oboInOwl:hasDbXref NCI:C6267 semapv:UnspecifiedMatching +DOID:5597 fallopian tube papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333595 semapv:UnspecifiedMatching DOID:5598 fallopian tube serous adenocarcinoma oboInOwl:hasDbXref NCI:C40099 semapv:UnspecifiedMatching DOID:5598 fallopian tube serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517124 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref ICD10CM:Q07.8 semapv:UnspecifiedMatching @@ -26685,53 +26710,53 @@ DOID:560 jaw-winking syndrome oboInOwl:hasDbXref ICD9CM:374.43 semapv:Unspecifie DOID:560 jaw-winking syndrome oboInOwl:hasDbXref MESH:C535908 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref OMIM:154600 semapv:UnspecifiedMatching DOID:560 jaw-winking syndrome oboInOwl:hasDbXref UMLS_CUI:C0266521 semapv:UnspecifiedMatching -DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9142 semapv:UnspecifiedMatching DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0279592 semapv:UnspecifiedMatching -DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICDO:9729/3 semapv:UnspecifiedMatching +DOID:5602 T-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9142 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICDO:9837/3 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref MESH:D015458 semapv:UnspecifiedMatching +DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref ICDO:9729/3 semapv:UnspecifiedMatching DOID:5603 T-cell acute lymphoblastic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023492 semapv:UnspecifiedMatching -DOID:5604 adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C4967 semapv:UnspecifiedMatching DOID:5604 adult acute lymphocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0751606 semapv:UnspecifiedMatching -DOID:5605 breast medullary carcinoma oboInOwl:hasDbXref NCI:C9119 semapv:UnspecifiedMatching +DOID:5604 adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C4967 semapv:UnspecifiedMatching DOID:5605 breast medullary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0860580 semapv:UnspecifiedMatching -DOID:5608 dental pulp calcification oboInOwl:hasDbXref MESH:D003784 semapv:UnspecifiedMatching +DOID:5605 breast medullary carcinoma oboInOwl:hasDbXref NCI:C9119 semapv:UnspecifiedMatching DOID:5608 dental pulp calcification oboInOwl:hasDbXref ICD10CM:K04.2 semapv:UnspecifiedMatching +DOID:5608 dental pulp calcification oboInOwl:hasDbXref MESH:D003784 semapv:UnspecifiedMatching DOID:5608 dental pulp calcification oboInOwl:hasDbXref UMLS_CUI:C0011401 semapv:UnspecifiedMatching -DOID:561 trigeminal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0029834 semapv:UnspecifiedMatching DOID:561 trigeminal nerve disease oboInOwl:hasDbXref ICD9CM:350.8 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref ICD10CM:C72.0 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref ICD9CM:192.2 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref MESH:D013120 semapv:UnspecifiedMatching +DOID:561 trigeminal nerve disease oboInOwl:hasDbXref UMLS_CUI:C0029834 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0153646 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0037939 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0037930 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C3572 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C3381 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref MESH:D013125 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref MESH:D013120 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref ICD9CM:192.2 semapv:UnspecifiedMatching +DOID:5612 spinal cancer oboInOwl:hasDbXref ICD10CM:C72.0 semapv:UnspecifiedMatching DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C168693 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C3381 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref NCI:C3572 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0037930 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0037939 semapv:UnspecifiedMatching -DOID:5612 spinal cancer oboInOwl:hasDbXref UMLS_CUI:C0153646 semapv:UnspecifiedMatching -DOID:5614 eye disease oboInOwl:hasDbXref NCI:C26767 semapv:UnspecifiedMatching -DOID:5614 eye disease oboInOwl:hasDbXref MESH:D005128 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref UMLS_CUI:C0015397 semapv:UnspecifiedMatching +DOID:5614 eye disease oboInOwl:hasDbXref NCI:C26767 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref ICD10CM:H44 semapv:UnspecifiedMatching DOID:5614 eye disease oboInOwl:hasDbXref ICD9CM:379.90 semapv:UnspecifiedMatching +DOID:5614 eye disease oboInOwl:hasDbXref MESH:D005128 semapv:UnspecifiedMatching DOID:5615 spinal canal intradural extramedullary neoplasm oboInOwl:hasDbXref NCI:C5135 semapv:UnspecifiedMatching DOID:5615 spinal canal intradural extramedullary neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334255 semapv:UnspecifiedMatching DOID:562 third cranial nerve disease oboInOwl:hasDbXref NCI:C27598 semapv:UnspecifiedMatching DOID:562 third cranial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0271353 semapv:UnspecifiedMatching DOID:5621 histiocytic and dendritic cell cancer oboInOwl:hasDbXref NCI:C9294 semapv:UnspecifiedMatching DOID:5621 histiocytic and dendritic cell cancer oboInOwl:hasDbXref UMLS_CUI:C1334030 semapv:UnspecifiedMatching -DOID:5623 adenosquamous breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1510796 semapv:UnspecifiedMatching DOID:5623 adenosquamous breast carcinoma oboInOwl:hasDbXref NCI:C40361 semapv:UnspecifiedMatching +DOID:5623 adenosquamous breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1510796 semapv:UnspecifiedMatching DOID:5624 adenosquamous bile duct carcinoma oboInOwl:hasDbXref NCI:C5778 semapv:UnspecifiedMatching DOID:5624 adenosquamous bile duct carcinoma oboInOwl:hasDbXref UMLS_CUI:C0861854 semapv:UnspecifiedMatching DOID:5625 esophageal adenosquamous carcinoma oboInOwl:hasDbXref NCI:C27421 semapv:UnspecifiedMatching -DOID:5626 thymus adenosquamous carcinoma oboInOwl:hasDbXref NCI:C6458 semapv:UnspecifiedMatching DOID:5626 thymus adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332171 semapv:UnspecifiedMatching +DOID:5626 thymus adenosquamous carcinoma oboInOwl:hasDbXref NCI:C6458 semapv:UnspecifiedMatching DOID:5627 adenosquamous gallbladder carcinoma oboInOwl:hasDbXref NCI:C7356 semapv:UnspecifiedMatching DOID:5627 adenosquamous gallbladder carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333741 semapv:UnspecifiedMatching -DOID:5628 ampulla of Vater adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332245 semapv:UnspecifiedMatching DOID:5628 ampulla of Vater adenosquamous carcinoma oboInOwl:hasDbXref NCI:C27418 semapv:UnspecifiedMatching +DOID:5628 ampulla of Vater adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332245 semapv:UnspecifiedMatching DOID:5629 adenosquamous colon carcinoma oboInOwl:hasDbXref NCI:C5491 semapv:UnspecifiedMatching DOID:5629 adenosquamous colon carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333082 semapv:UnspecifiedMatching DOID:5630 Bartholin's gland adenosquamous carcinoma oboInOwl:hasDbXref NCI:C40296 semapv:UnspecifiedMatching @@ -26742,13 +26767,13 @@ DOID:5634 adenosquamous prostate carcinoma oboInOwl:hasDbXref NCI:C5538 semapv:U DOID:5634 adenosquamous prostate carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335503 semapv:UnspecifiedMatching DOID:5635 gastric adenosquamous carcinoma oboInOwl:hasDbXref NCI:C5474 semapv:UnspecifiedMatching DOID:5635 gastric adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333761 semapv:UnspecifiedMatching -DOID:5636 cervical adenosquamous carcinoma oboInOwl:hasDbXref NCI:C4519 semapv:UnspecifiedMatching DOID:5636 cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346202 semapv:UnspecifiedMatching +DOID:5636 cervical adenosquamous carcinoma oboInOwl:hasDbXref NCI:C4519 semapv:UnspecifiedMatching DOID:5637 pancreatic adenosquamous carcinoma oboInOwl:hasDbXref NCI:C5721 semapv:UnspecifiedMatching DOID:5637 pancreatic adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335299 semapv:UnspecifiedMatching -DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref UMLS_CUI:C0334554 semapv:UnspecifiedMatching DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref ICDO:9251/3 semapv:UnspecifiedMatching DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref NCI:C8380 semapv:UnspecifiedMatching +DOID:5638 malignant giant cell tumor of soft parts oboInOwl:hasDbXref UMLS_CUI:C0334554 semapv:UnspecifiedMatching DOID:5639 rete testis neoplasm oboInOwl:hasDbXref NCI:C39955 semapv:UnspecifiedMatching DOID:5639 rete testis neoplasm oboInOwl:hasDbXref UMLS_CUI:C1514912 semapv:UnspecifiedMatching DOID:5641 diffuse pulmonary fibrosis oboInOwl:hasDbXref NCI:C27216 semapv:UnspecifiedMatching @@ -26757,28 +26782,28 @@ DOID:5642 localized pulmonary fibrosis oboInOwl:hasDbXref NCI:C27103 semapv:Unsp DOID:5642 localized pulmonary fibrosis oboInOwl:hasDbXref UMLS_CUI:C0340127 semapv:UnspecifiedMatching DOID:5643 urethral villous adenoma oboInOwl:hasDbXref NCI:C39872 semapv:UnspecifiedMatching DOID:5643 urethral villous adenoma oboInOwl:hasDbXref UMLS_CUI:C1519828 semapv:UnspecifiedMatching -DOID:5644 tricuspid valve prolapse oboInOwl:hasDbXref MESH:D014263 semapv:UnspecifiedMatching DOID:5644 tricuspid valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0040962 semapv:UnspecifiedMatching +DOID:5644 tricuspid valve prolapse oboInOwl:hasDbXref MESH:D014263 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref GARD:8238 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref ICDO:9390/3 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref MESH:C562943 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref NCI:C4533 semapv:UnspecifiedMatching +DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref NCI:C4715 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346289 semapv:UnspecifiedMatching DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0431109 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref NCI:C4715 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref NCI:C4533 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref MESH:C562943 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref ICDO:9390/3 semapv:UnspecifiedMatching -DOID:5648 choroid plexus carcinoma oboInOwl:hasDbXref GARD:8238 semapv:UnspecifiedMatching DOID:565 bilateral hypoactive labyrinth oboInOwl:hasDbXref ICD9CM:386.54 semapv:UnspecifiedMatching DOID:565 bilateral hypoactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155518 semapv:UnspecifiedMatching DOID:5655 chiasmal syndrome oboInOwl:hasDbXref ICD10CM:H47.4 semapv:UnspecifiedMatching DOID:5655 chiasmal syndrome oboInOwl:hasDbXref ICD9CM:377.5 semapv:UnspecifiedMatching DOID:5655 chiasmal syndrome oboInOwl:hasDbXref UMLS_CUI:C0155307 semapv:UnspecifiedMatching -DOID:5656 cranial nerve disease oboInOwl:hasDbXref ICD10CM:G52.9 semapv:UnspecifiedMatching -DOID:5656 cranial nerve disease oboInOwl:hasDbXref ICD9CM:352.9 semapv:UnspecifiedMatching +DOID:5656 cranial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0010266 semapv:UnspecifiedMatching DOID:5656 cranial nerve disease oboInOwl:hasDbXref MESH:D003389 semapv:UnspecifiedMatching DOID:5656 cranial nerve disease oboInOwl:hasDbXref NCI:C26733 semapv:UnspecifiedMatching -DOID:5656 cranial nerve disease oboInOwl:hasDbXref UMLS_CUI:C0010266 semapv:UnspecifiedMatching +DOID:5656 cranial nerve disease oboInOwl:hasDbXref ICD10CM:G52.9 semapv:UnspecifiedMatching +DOID:5656 cranial nerve disease oboInOwl:hasDbXref ICD9CM:352.9 semapv:UnspecifiedMatching +DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref ICDO:8314/3 semapv:UnspecifiedMatching DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref NCI:C4152 semapv:UnspecifiedMatching DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334318 semapv:UnspecifiedMatching -DOID:5658 lipid-rich carcinoma oboInOwl:hasDbXref ICDO:8314/3 semapv:UnspecifiedMatching DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref ICD10CM:H83.2 semapv:UnspecifiedMatching DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref ICD9CM:386.5 semapv:UnspecifiedMatching DOID:566 labyrinthine dysfunction oboInOwl:hasDbXref UMLS_CUI:C0155514 semapv:UnspecifiedMatching @@ -26787,15 +26812,15 @@ DOID:5660 lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334254 DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref ICDO:8022/3 semapv:UnspecifiedMatching DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref NCI:C4094 semapv:UnspecifiedMatching DOID:5662 pleomorphic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334233 semapv:UnspecifiedMatching -DOID:5665 external ear cancer oboInOwl:hasDbXref NCI:C4653 semapv:UnspecifiedMatching DOID:5665 external ear cancer oboInOwl:hasDbXref UMLS_CUI:C0349576 semapv:UnspecifiedMatching -DOID:5667 sweat gland carcinoma oboInOwl:hasDbXref NCI:C6938 semapv:UnspecifiedMatching +DOID:5665 external ear cancer oboInOwl:hasDbXref NCI:C4653 semapv:UnspecifiedMatching DOID:5667 sweat gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1412016 semapv:UnspecifiedMatching -DOID:5670 comedo carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334370 semapv:UnspecifiedMatching +DOID:5667 sweat gland carcinoma oboInOwl:hasDbXref NCI:C6938 semapv:UnspecifiedMatching DOID:5670 comedo carcinoma oboInOwl:hasDbXref NCI:C4188 semapv:UnspecifiedMatching -DOID:5672 large intestine cancer oboInOwl:hasDbXref UMLS_CUI:C0346629 semapv:UnspecifiedMatching -DOID:5672 large intestine cancer oboInOwl:hasDbXref NCI:C4978 semapv:UnspecifiedMatching +DOID:5670 comedo carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334370 semapv:UnspecifiedMatching DOID:5672 large intestine cancer oboInOwl:hasDbXref ICD10CM:C18.9 semapv:UnspecifiedMatching +DOID:5672 large intestine cancer oboInOwl:hasDbXref NCI:C4978 semapv:UnspecifiedMatching +DOID:5672 large intestine cancer oboInOwl:hasDbXref UMLS_CUI:C0346629 semapv:UnspecifiedMatching DOID:5675 cribriform carcinoma oboInOwl:hasDbXref ICDO:8201/3 semapv:UnspecifiedMatching DOID:5675 cribriform carcinoma oboInOwl:hasDbXref MESH:D000230 semapv:UnspecifiedMatching DOID:5675 cribriform carcinoma oboInOwl:hasDbXref NCI:C3680 semapv:UnspecifiedMatching @@ -26804,31 +26829,31 @@ DOID:5677 malignant extragonadal nonseminomatous germ cell tumor oboInOwl:hasDbX DOID:5677 malignant extragonadal nonseminomatous germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1334582 semapv:UnspecifiedMatching DOID:5678 nerve fibre bundle defect oboInOwl:hasDbXref ICD9CM:362.85 semapv:UnspecifiedMatching DOID:5678 nerve fibre bundle defect oboInOwl:hasDbXref UMLS_CUI:C0474334 semapv:UnspecifiedMatching -DOID:5679 retinal disease oboInOwl:hasDbXref ICD10CM:H35.9 semapv:UnspecifiedMatching +DOID:5679 retinal disease oboInOwl:hasDbXref UMLS_CUI:C0035309 semapv:UnspecifiedMatching +DOID:5679 retinal disease oboInOwl:hasDbXref NCI:C26875 semapv:UnspecifiedMatching DOID:5679 retinal disease oboInOwl:hasDbXref ICD9CM:362.9 semapv:UnspecifiedMatching +DOID:5679 retinal disease oboInOwl:hasDbXref ICD10CM:H35.9 semapv:UnspecifiedMatching DOID:5679 retinal disease oboInOwl:hasDbXref MESH:D012164 semapv:UnspecifiedMatching -DOID:5679 retinal disease oboInOwl:hasDbXref NCI:C26875 semapv:UnspecifiedMatching -DOID:5679 retinal disease oboInOwl:hasDbXref UMLS_CUI:C0035309 semapv:UnspecifiedMatching -DOID:5680 embryonal testis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238448 semapv:UnspecifiedMatching DOID:5680 embryonal testis carcinoma oboInOwl:hasDbXref NCI:C6341 semapv:UnspecifiedMatching +DOID:5680 embryonal testis carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238448 semapv:UnspecifiedMatching DOID:5681 ovarian embryonal carcinoma oboInOwl:hasDbXref NCI:C8108 semapv:UnspecifiedMatching DOID:5681 ovarian embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346183 semapv:UnspecifiedMatching DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref MESH:D061325 semapv:UnspecifiedMatching DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref NCI:C8493 semapv:UnspecifiedMatching DOID:5683 hereditary breast ovarian cancer syndrome oboInOwl:hasDbXref UMLS_CUI:C0677776 semapv:UnspecifiedMatching -DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref UMLS_CUI:C0920349 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref NCI:C92206 semapv:UnspecifiedMatching DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref OMIM:271510 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome oboInOwl:hasDbXref GARD:7885 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome oboInOwl:hasDbXref NCI:C3447 semapv:UnspecifiedMatching +DOID:5684 spondyloepimetaphyseal dysplasia, Sponastrime type oboInOwl:hasDbXref UMLS_CUI:C0920349 semapv:UnspecifiedMatching +DOID:5688 Werner syndrome oboInOwl:hasDbXref UMLS_CUI:C0043119 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref OMIM:277700 semapv:UnspecifiedMatching DOID:5688 Werner syndrome oboInOwl:hasDbXref ORDO:902 semapv:UnspecifiedMatching -DOID:5688 Werner syndrome oboInOwl:hasDbXref UMLS_CUI:C0043119 semapv:UnspecifiedMatching -DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1370889 semapv:UnspecifiedMatching -DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref ORDO:99971 semapv:UnspecifiedMatching -DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref NCI:C176979 semapv:UnspecifiedMatching +DOID:5688 Werner syndrome oboInOwl:hasDbXref MESH:D014898 semapv:UnspecifiedMatching +DOID:5688 Werner syndrome oboInOwl:hasDbXref NCI:C3447 semapv:UnspecifiedMatching +DOID:5688 Werner syndrome oboInOwl:hasDbXref GARD:7885 semapv:UnspecifiedMatching DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref MESH:D008080 semapv:UnspecifiedMatching +DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref NCI:C176979 semapv:UnspecifiedMatching +DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref ORDO:99971 semapv:UnspecifiedMatching +DOID:5690 well-differentiated liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1370889 semapv:UnspecifiedMatching DOID:5691 visual cortex disease oboInOwl:hasDbXref ICD10CM:H47.6 semapv:UnspecifiedMatching DOID:5691 visual cortex disease oboInOwl:hasDbXref ICD9CM:377.7 semapv:UnspecifiedMatching DOID:5691 visual cortex disease oboInOwl:hasDbXref NCI:C35275 semapv:UnspecifiedMatching @@ -26837,10 +26862,10 @@ DOID:5692 cellular myxoid liposarcoma oboInOwl:hasDbXref NCI:C4252 semapv:Unspec DOID:5692 cellular myxoid liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0334471 semapv:UnspecifiedMatching DOID:5693 adult liposarcoma oboInOwl:hasDbXref NCI:C7811 semapv:UnspecifiedMatching DOID:5693 adult liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0278608 semapv:UnspecifiedMatching -DOID:5694 esophagus liposarcoma oboInOwl:hasDbXref NCI:C5705 semapv:UnspecifiedMatching DOID:5694 esophagus liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1333456 semapv:UnspecifiedMatching -DOID:5695 childhood liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0279984 semapv:UnspecifiedMatching +DOID:5694 esophagus liposarcoma oboInOwl:hasDbXref NCI:C5705 semapv:UnspecifiedMatching DOID:5695 childhood liposarcoma oboInOwl:hasDbXref NCI:C8091 semapv:UnspecifiedMatching +DOID:5695 childhood liposarcoma oboInOwl:hasDbXref UMLS_CUI:C0279984 semapv:UnspecifiedMatching DOID:5696 larynx liposarcoma oboInOwl:hasDbXref NCI:C6021 semapv:UnspecifiedMatching DOID:5696 larynx liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1334372 semapv:UnspecifiedMatching DOID:5697 liposarcoma of the ovary oboInOwl:hasDbXref NCI:C6419 semapv:UnspecifiedMatching @@ -26850,14 +26875,14 @@ DOID:5698 fibroblastic liposarcoma oboInOwl:hasDbXref NCI:C6509 semapv:Unspecifi DOID:5698 fibroblastic liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1266130 semapv:UnspecifiedMatching DOID:5699 kidney liposarcoma oboInOwl:hasDbXref NCI:C6185 semapv:UnspecifiedMatching DOID:5699 kidney liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1335745 semapv:UnspecifiedMatching -DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0003504 semapv:UnspecifiedMatching +DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0264774 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0155568 semapv:UnspecifiedMatching +DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0003504 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref NCI:C51223 semapv:UnspecifiedMatching -DOID:57 aortic valve insufficiency oboInOwl:hasDbXref UMLS_CUI:C0264774 semapv:UnspecifiedMatching +DOID:57 aortic valve insufficiency oboInOwl:hasDbXref MESH:D001022 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref ICD9CM:396.3 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref ICD9CM:395.1 semapv:UnspecifiedMatching DOID:57 aortic valve insufficiency oboInOwl:hasDbXref ICD10CM:I06.1 semapv:UnspecifiedMatching -DOID:57 aortic valve insufficiency oboInOwl:hasDbXref MESH:D001022 semapv:UnspecifiedMatching DOID:5700 gastric liposarcoma oboInOwl:hasDbXref NCI:C5488 semapv:UnspecifiedMatching DOID:5700 gastric liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1333778 semapv:UnspecifiedMatching DOID:5701 breast liposarcoma oboInOwl:hasDbXref NCI:C5187 semapv:UnspecifiedMatching @@ -26887,41 +26912,41 @@ DOID:5714 intracranial liposarcoma oboInOwl:hasDbXref NCI:C6973 semapv:Unspecifi DOID:5714 intracranial liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1334242 semapv:UnspecifiedMatching DOID:5715 functionless pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0338078 semapv:UnspecifiedMatching DOID:5715 functionless pituitary adenoma oboInOwl:hasDbXref NCI:C4009 semapv:UnspecifiedMatching -DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0278864 semapv:UnspecifiedMatching -DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0851693 semapv:UnspecifiedMatching DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref NCI:C7047 semapv:UnspecifiedMatching DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref NCI:C7911 semapv:UnspecifiedMatching +DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0278864 semapv:UnspecifiedMatching +DOID:5716 hormone producing pituitary cancer oboInOwl:hasDbXref UMLS_CUI:C0851693 semapv:UnspecifiedMatching DOID:5718 adrenal neuroblastoma oboInOwl:hasDbXref NCI:C4827 semapv:UnspecifiedMatching DOID:5718 adrenal neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0559460 semapv:UnspecifiedMatching -DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref GARD:5755 semapv:UnspecifiedMatching +DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS_CUI:C0596046 semapv:UnspecifiedMatching +DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS_CUI:C0344456 semapv:UnspecifiedMatching +DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref NCI:C4856 semapv:UnspecifiedMatching DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref ICD10CM:C74.1 semapv:UnspecifiedMatching +DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref GARD:5755 semapv:UnspecifiedMatching DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref NCI:C4396 semapv:UnspecifiedMatching -DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref NCI:C4856 semapv:UnspecifiedMatching -DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS_CUI:C0344456 semapv:UnspecifiedMatching -DOID:5719 adrenal medulla cancer oboInOwl:hasDbXref UMLS_CUI:C0596046 semapv:UnspecifiedMatching DOID:572 mononeuritis of upper limb and mononeuritis multiplex oboInOwl:hasDbXref ICD9CM:354 semapv:UnspecifiedMatching DOID:572 mononeuritis of upper limb and mononeuritis multiplex oboInOwl:hasDbXref UMLS_CUI:C0154741 semapv:UnspecifiedMatching -DOID:5723 optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0029124 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref ORDO:98673 semapv:UnspecifiedMatching +DOID:5723 optic atrophy oboInOwl:hasDbXref UMLS_CUI:C0029124 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref OMIMPS:165500 semapv:UnspecifiedMatching -DOID:5723 optic atrophy oboInOwl:hasDbXref NCI:C34863 semapv:UnspecifiedMatching +DOID:5723 optic atrophy oboInOwl:hasDbXref ICD10CM:H47.2 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref MESH:D009896 semapv:UnspecifiedMatching DOID:5723 optic atrophy oboInOwl:hasDbXref ICD9CM:377.1 semapv:UnspecifiedMatching -DOID:5723 optic atrophy oboInOwl:hasDbXref ICD10CM:H47.2 semapv:UnspecifiedMatching +DOID:5723 optic atrophy oboInOwl:hasDbXref NCI:C34863 semapv:UnspecifiedMatching DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref NCI:C39907 semapv:UnspecifiedMatching DOID:5724 seminal vesicle cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1519234 semapv:UnspecifiedMatching DOID:5725 rete ovarii cystadenoma oboInOwl:hasDbXref NCI:C40019 semapv:UnspecifiedMatching DOID:5725 rete ovarii cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1514907 semapv:UnspecifiedMatching DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease oboInOwl:hasDbXref NCI:C40142 semapv:UnspecifiedMatching DOID:5726 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease oboInOwl:hasDbXref UMLS_CUI:C3642324 semapv:UnspecifiedMatching -DOID:5727 uterine ligament cancer oboInOwl:hasDbXref NCI:C40133 semapv:UnspecifiedMatching DOID:5727 uterine ligament cancer oboInOwl:hasDbXref UMLS_CUI:C1519870 semapv:UnspecifiedMatching -DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref GARD:12843 semapv:UnspecifiedMatching -DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref NCI:C3958 semapv:UnspecifiedMatching +DOID:5727 uterine ligament cancer oboInOwl:hasDbXref NCI:C40133 semapv:UnspecifiedMatching DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0267785 semapv:UnspecifiedMatching +DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref NCI:C3958 semapv:UnspecifiedMatching +DOID:5728 diffuse peritoneal leiomyomatosis oboInOwl:hasDbXref GARD:12843 semapv:UnspecifiedMatching +DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref GARD:10802 semapv:UnspecifiedMatching DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref NCI:C4518 semapv:UnspecifiedMatching DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C0346200 semapv:UnspecifiedMatching -DOID:5729 intravenous leiomyomatosis oboInOwl:hasDbXref GARD:10802 semapv:UnspecifiedMatching DOID:573 nerve compression syndrome oboInOwl:hasDbXref MESH:D009408 semapv:UnspecifiedMatching DOID:573 nerve compression syndrome oboInOwl:hasDbXref NCI:C27221 semapv:UnspecifiedMatching DOID:573 nerve compression syndrome oboInOwl:hasDbXref UMLS_CUI:C0027743 semapv:UnspecifiedMatching @@ -26931,17 +26956,17 @@ DOID:5730 salpingitis isthmica nodosa oboInOwl:hasDbXref UMLS_CUI:C0269043 semap DOID:5731 chronic salpingitis oboInOwl:hasDbXref ICD10CM:N70.11 semapv:UnspecifiedMatching DOID:5731 chronic salpingitis oboInOwl:hasDbXref NCI:C40118 semapv:UnspecifiedMatching DOID:5731 chronic salpingitis oboInOwl:hasDbXref UMLS_CUI:C0269041 semapv:UnspecifiedMatching -DOID:5732 pyosalpinx oboInOwl:hasDbXref ICD10CM:N70 semapv:UnspecifiedMatching DOID:5732 pyosalpinx oboInOwl:hasDbXref NCI:C34968 semapv:UnspecifiedMatching DOID:5732 pyosalpinx oboInOwl:hasDbXref UMLS_CUI:C0034220 semapv:UnspecifiedMatching -DOID:5733 salpingitis oboInOwl:hasDbXref UMLS_CUI:C0036130 semapv:UnspecifiedMatching -DOID:5733 salpingitis oboInOwl:hasDbXref NCI:C26880 semapv:UnspecifiedMatching -DOID:5733 salpingitis oboInOwl:hasDbXref MESH:D012488 semapv:UnspecifiedMatching +DOID:5732 pyosalpinx oboInOwl:hasDbXref ICD10CM:N70 semapv:UnspecifiedMatching DOID:5733 salpingitis oboInOwl:hasDbXref ICD10CM:N70.91 semapv:UnspecifiedMatching +DOID:5733 salpingitis oboInOwl:hasDbXref MESH:D012488 semapv:UnspecifiedMatching +DOID:5733 salpingitis oboInOwl:hasDbXref NCI:C26880 semapv:UnspecifiedMatching +DOID:5733 salpingitis oboInOwl:hasDbXref UMLS_CUI:C0036130 semapv:UnspecifiedMatching +DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS_CUI:C1335029 semapv:UnspecifiedMatching DOID:574 peripheral nervous system disease oboInOwl:hasDbXref NCI:C119734 semapv:UnspecifiedMatching DOID:574 peripheral nervous system disease oboInOwl:hasDbXref NCI:C27587 semapv:UnspecifiedMatching DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS_CUI:C0031117 semapv:UnspecifiedMatching -DOID:574 peripheral nervous system disease oboInOwl:hasDbXref UMLS_CUI:C1335029 semapv:UnspecifiedMatching DOID:5740 small intestinal vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref NCI:C27455 semapv:UnspecifiedMatching DOID:5740 small intestinal vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C1336009 semapv:UnspecifiedMatching DOID:5741 pancreatic vasoactive intestinal peptide producing tumor oboInOwl:hasDbXref NCI:C95599 semapv:UnspecifiedMatching @@ -26950,12 +26975,12 @@ DOID:5742 pancreatic acinar cell adenocarcinoma oboInOwl:hasDbXref NCI:C7977 sem DOID:5742 pancreatic acinar cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279661 semapv:UnspecifiedMatching DOID:5743 acinic cell breast carcinoma oboInOwl:hasDbXref NCI:C40367 semapv:UnspecifiedMatching DOID:5743 acinic cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1515868 semapv:UnspecifiedMatching -DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref NCI:C7550 semapv:UnspecifiedMatching +DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518234 semapv:UnspecifiedMatching DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335177 semapv:UnspecifiedMatching +DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref NCI:C7550 semapv:UnspecifiedMatching DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref NCI:C40025 semapv:UnspecifiedMatching -DOID:5744 ovary serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518234 semapv:UnspecifiedMatching -DOID:5746 ovarian serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279663 semapv:UnspecifiedMatching DOID:5746 ovarian serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C7978 semapv:UnspecifiedMatching +DOID:5746 ovarian serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279663 semapv:UnspecifiedMatching DOID:5747 uterine ligament serous adenocarcinoma oboInOwl:hasDbXref NCI:C40136 semapv:UnspecifiedMatching DOID:5747 uterine ligament serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519872 semapv:UnspecifiedMatching DOID:5748 rheumatic pulmonary valve disease oboInOwl:hasDbXref ICD10CM:I09.89 semapv:UnspecifiedMatching @@ -26968,10 +26993,10 @@ DOID:5750 endometrial serous adenocarcinoma oboInOwl:hasDbXref NCI:C27838 semapv DOID:5750 endometrial serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0854924 semapv:UnspecifiedMatching DOID:5751 pancreatic serous cystadenocarcinoma oboInOwl:hasDbXref NCI:C5724 semapv:UnspecifiedMatching DOID:5751 pancreatic serous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335315 semapv:UnspecifiedMatching -DOID:5752 cervical serous adenocarcinoma oboInOwl:hasDbXref NCI:C40201 semapv:UnspecifiedMatching DOID:5752 cervical serous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516431 semapv:UnspecifiedMatching -DOID:5757 endocervicitis oboInOwl:hasDbXref UMLS_CUI:C0014127 semapv:UnspecifiedMatching +DOID:5752 cervical serous adenocarcinoma oboInOwl:hasDbXref NCI:C40201 semapv:UnspecifiedMatching DOID:5757 endocervicitis oboInOwl:hasDbXref NCI:C26762 semapv:UnspecifiedMatching +DOID:5757 endocervicitis oboInOwl:hasDbXref UMLS_CUI:C0014127 semapv:UnspecifiedMatching DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref GARD:3369 semapv:UnspecifiedMatching DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref MESH:C535700 semapv:UnspecifiedMatching DOID:5758 malignant mesenchymoma oboInOwl:hasDbXref NCI:C4268 semapv:UnspecifiedMatching @@ -26984,10 +27009,10 @@ DOID:576 proteinuria oboInOwl:hasDbXref ICD9CM:791.0 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref MESH:D011507 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref NCI:C38012 semapv:UnspecifiedMatching DOID:576 proteinuria oboInOwl:hasDbXref UMLS_CUI:C0033687 semapv:UnspecifiedMatching -DOID:5760 sebaceous breast carcinoma oboInOwl:hasDbXref NCI:C40369 semapv:UnspecifiedMatching DOID:5760 sebaceous breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519207 semapv:UnspecifiedMatching -DOID:5761 vulvar sebaceous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1520094 semapv:UnspecifiedMatching +DOID:5760 sebaceous breast carcinoma oboInOwl:hasDbXref NCI:C40369 semapv:UnspecifiedMatching DOID:5761 vulvar sebaceous carcinoma oboInOwl:hasDbXref NCI:C40309 semapv:UnspecifiedMatching +DOID:5761 vulvar sebaceous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1520094 semapv:UnspecifiedMatching DOID:5763 lung clear cell-sugar-tumor oboInOwl:hasDbXref NCI:C38152 semapv:UnspecifiedMatching DOID:5763 lung clear cell-sugar-tumor oboInOwl:hasDbXref UMLS_CUI:C1333065 semapv:UnspecifiedMatching DOID:5764 lung meningioma oboInOwl:hasDbXref NCI:C5276 semapv:UnspecifiedMatching @@ -26999,27 +27024,27 @@ DOID:5766 pulmonary sclerosing hemangioma oboInOwl:hasDbXref NCI:C5656 semapv:Un DOID:5766 pulmonary sclerosing hemangioma oboInOwl:hasDbXref UMLS_CUI:C1334455 semapv:UnspecifiedMatching DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref NCI:C5671 semapv:UnspecifiedMatching DOID:5767 hilar lung neoplasm oboInOwl:hasDbXref UMLS_CUI:C1290358 semapv:UnspecifiedMatching -DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref UMLS_CUI:C1332140 semapv:UnspecifiedMatching +DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref OMIM:154400 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref GARD:498 semapv:UnspecifiedMatching DOID:5768 Nager acrofacial dysostosis oboInOwl:hasDbXref NCI:C35795 semapv:UnspecifiedMatching DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref NCI:C4478 semapv:UnspecifiedMatching DOID:5769 verruciform xanthoma of skin oboInOwl:hasDbXref UMLS_CUI:C0346054 semapv:UnspecifiedMatching DOID:5772 central nervous system hematologic cancer oboInOwl:hasDbXref NCI:C5503 semapv:UnspecifiedMatching DOID:5772 central nervous system hematologic cancer oboInOwl:hasDbXref UMLS_CUI:C1332882 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS_CUI:C0029172 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS_CUI:C0029171 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref NCI:C34866 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref ICD9CM:528.8 semapv:UnspecifiedMatching -DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref ICD10CM:K13.5 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref GARD:7264 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref ICD10CM:K13.5 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref ICD9CM:528.8 semapv:UnspecifiedMatching DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref MESH:D009914 semapv:UnspecifiedMatching -DOID:5774 giant hemangioma oboInOwl:hasDbXref NCI:C27777 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref NCI:C34866 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS_CUI:C0029171 semapv:UnspecifiedMatching +DOID:5773 oral submucous fibrosis oboInOwl:hasDbXref UMLS_CUI:C0029172 semapv:UnspecifiedMatching DOID:5774 giant hemangioma oboInOwl:hasDbXref UMLS_CUI:C1333817 semapv:UnspecifiedMatching -DOID:5775 cavernous hemangioma of colon oboInOwl:hasDbXref NCI:C5395 semapv:UnspecifiedMatching +DOID:5774 giant hemangioma oboInOwl:hasDbXref NCI:C27777 semapv:UnspecifiedMatching DOID:5775 cavernous hemangioma of colon oboInOwl:hasDbXref UMLS_CUI:C1333086 semapv:UnspecifiedMatching -DOID:5776 cavernous hemangioma of face oboInOwl:hasDbXref UMLS_CUI:C1332863 semapv:UnspecifiedMatching +DOID:5775 cavernous hemangioma of colon oboInOwl:hasDbXref NCI:C5395 semapv:UnspecifiedMatching DOID:5776 cavernous hemangioma of face oboInOwl:hasDbXref NCI:C7053 semapv:UnspecifiedMatching +DOID:5776 cavernous hemangioma of face oboInOwl:hasDbXref UMLS_CUI:C1332863 semapv:UnspecifiedMatching DOID:5777 rectum neuroendocrine neoplasm oboInOwl:hasDbXref NCI:C5698 semapv:UnspecifiedMatching DOID:5777 rectum neuroendocrine neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335686 semapv:UnspecifiedMatching DOID:5781 atrophic flaccid tympanic membrane oboInOwl:hasDbXref ICD10CM:H73.81 semapv:UnspecifiedMatching @@ -27078,13 +27103,13 @@ DOID:5821 methotrexate-associated lymphoproliferation oboInOwl:hasDbXref UMLS_CU DOID:5822 gray zone lymphoma oboInOwl:hasDbXref GARD:10897 semapv:UnspecifiedMatching DOID:5822 gray zone lymphoma oboInOwl:hasDbXref NCI:C37869 semapv:UnspecifiedMatching DOID:5822 gray zone lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333878 semapv:UnspecifiedMatching -DOID:5823 childhood lymphoma oboInOwl:hasDbXref NCI:C5165 semapv:UnspecifiedMatching DOID:5823 childhood lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332979 semapv:UnspecifiedMatching +DOID:5823 childhood lymphoma oboInOwl:hasDbXref NCI:C5165 semapv:UnspecifiedMatching DOID:5825 adult lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332206 semapv:UnspecifiedMatching DOID:5825 adult lymphoma oboInOwl:hasDbXref NCI:C7587 semapv:UnspecifiedMatching DOID:5826 breast lymphoma oboInOwl:hasDbXref UMLS_CUI:C0349669 semapv:UnspecifiedMatching -DOID:5828 endometrioid ovary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346163 semapv:UnspecifiedMatching DOID:5828 endometrioid ovary carcinoma oboInOwl:hasDbXref NCI:C7979 semapv:UnspecifiedMatching +DOID:5828 endometrioid ovary carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346163 semapv:UnspecifiedMatching DOID:5829 uterine ligament endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C40138 semapv:UnspecifiedMatching DOID:5829 uterine ligament endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C5557430 semapv:UnspecifiedMatching DOID:583 hemolytic anemia oboInOwl:hasDbXref ICD10CM:D55-D59 semapv:UnspecifiedMatching @@ -27095,25 +27120,25 @@ DOID:583 hemolytic anemia oboInOwl:hasDbXref OMIM:612631 semapv:UnspecifiedMatch DOID:583 hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002878 semapv:UnspecifiedMatching DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C6343 semapv:UnspecifiedMatching DOID:5830 cervical endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332913 semapv:UnspecifiedMatching -DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C40111 semapv:UnspecifiedMatching -DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C6279 semapv:UnspecifiedMatching DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333592 semapv:UnspecifiedMatching DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517113 semapv:UnspecifiedMatching -DOID:5834 spermatocytoma oboInOwl:hasDbXref UMLS_CUI:C0334517 semapv:UnspecifiedMatching +DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C40111 semapv:UnspecifiedMatching +DOID:5831 fallopian tube endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C6279 semapv:UnspecifiedMatching DOID:5834 spermatocytoma oboInOwl:hasDbXref NCI:C39921 semapv:UnspecifiedMatching +DOID:5834 spermatocytoma oboInOwl:hasDbXref UMLS_CUI:C0334517 semapv:UnspecifiedMatching DOID:5838 extragonadal seminoma oboInOwl:hasDbXref NCI:C7327 semapv:UnspecifiedMatching DOID:5838 extragonadal seminoma oboInOwl:hasDbXref UMLS_CUI:C1333502 semapv:UnspecifiedMatching -DOID:5842 testis seminoma oboInOwl:hasDbXref MESH:D018239 semapv:UnspecifiedMatching DOID:5842 testis seminoma oboInOwl:hasDbXref NCI:C9309 semapv:UnspecifiedMatching DOID:5842 testis seminoma oboInOwl:hasDbXref UMLS_CUI:C0036631 semapv:UnspecifiedMatching +DOID:5842 testis seminoma oboInOwl:hasDbXref MESH:D018239 semapv:UnspecifiedMatching DOID:5843 posteroinferior myocardial infarction oboInOwl:hasDbXref NCI:C36068 semapv:UnspecifiedMatching DOID:5843 posteroinferior myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642318 semapv:UnspecifiedMatching +DOID:5844 myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0027051 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref EFO:0000612 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref ICD10CM:I21 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref MESH:D009203 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref NCI:C27996 semapv:UnspecifiedMatching DOID:5844 myocardial infarction oboInOwl:hasDbXref OMIM:608557 semapv:UnspecifiedMatching -DOID:5844 myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0027051 semapv:UnspecifiedMatching DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0262564 semapv:UnspecifiedMatching DOID:5845 anterolateral myocardial infarction oboInOwl:hasDbXref MESH:D056988 semapv:UnspecifiedMatching DOID:5846 septal myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0746727 semapv:UnspecifiedMatching @@ -27129,10 +27154,10 @@ DOID:585 nephrolithiasis oboInOwl:hasDbXref UMLS_CUI:C0156257 semapv:Unspecified DOID:585 nephrolithiasis skos:exactMatch MESH:D053040 semapv:UnspecifiedMatching DOID:5850 inferior myocardial infarction oboInOwl:hasDbXref MESH:D056989 semapv:UnspecifiedMatching DOID:5850 inferior myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340305 semapv:UnspecifiedMatching -DOID:5851 posterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642463 semapv:UnspecifiedMatching DOID:5851 posterolateral myocardial infarction oboInOwl:hasDbXref NCI:C35672 semapv:UnspecifiedMatching -DOID:5852 inferolateral myocardial infarct oboInOwl:hasDbXref NCI:C35673 semapv:UnspecifiedMatching +DOID:5851 posterolateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C3642463 semapv:UnspecifiedMatching DOID:5852 inferolateral myocardial infarct oboInOwl:hasDbXref UMLS_CUI:C3537017 semapv:UnspecifiedMatching +DOID:5852 inferolateral myocardial infarct oboInOwl:hasDbXref NCI:C35673 semapv:UnspecifiedMatching DOID:5853 lateral myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340312 semapv:UnspecifiedMatching DOID:5854 silent myocardial infarction oboInOwl:hasDbXref NCI:C35400 semapv:UnspecifiedMatching DOID:5854 silent myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0340324 semapv:UnspecifiedMatching @@ -27147,8 +27172,8 @@ DOID:5866 juxtacortical chondrosarcoma oboInOwl:hasDbXref NCI:C7357 semapv:Unspe DOID:5866 juxtacortical chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334549 semapv:UnspecifiedMatching DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266167 semapv:UnspecifiedMatching DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref NCI:C6475 semapv:UnspecifiedMatching -DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref MESH:D000077207 semapv:UnspecifiedMatching DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref ICDO:9242/3 semapv:UnspecifiedMatching +DOID:5867 clear cell chondrosarcoma oboInOwl:hasDbXref MESH:D000077207 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref GARD:107 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref ICD10CM:J82.81 semapv:UnspecifiedMatching DOID:5870 eosinophilic pneumonia oboInOwl:hasDbXref MESH:D011657 semapv:UnspecifiedMatching @@ -27168,15 +27193,15 @@ DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref ICD10CM:C48 semapv:Unspecifi DOID:5875 retroperitoneal cancer oboInOwl:hasDbXref MESH:D012186 semapv:UnspecifiedMatching DOID:5876 apocrine sweat gland neoplasm oboInOwl:hasDbXref NCI:C6798 semapv:UnspecifiedMatching DOID:5876 apocrine sweat gland neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332318 semapv:UnspecifiedMatching -DOID:5877 endocardium cancer oboInOwl:hasDbXref NCI:C4570 semapv:UnspecifiedMatching -DOID:5877 endocardium cancer oboInOwl:hasDbXref NCI:C5346 semapv:UnspecifiedMatching -DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346612 semapv:UnspecifiedMatching DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290401 semapv:UnspecifiedMatching +DOID:5877 endocardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346612 semapv:UnspecifiedMatching +DOID:5877 endocardium cancer oboInOwl:hasDbXref NCI:C5346 semapv:UnspecifiedMatching +DOID:5877 endocardium cancer oboInOwl:hasDbXref NCI:C4570 semapv:UnspecifiedMatching DOID:5884 benign intermediate mesothelioma oboInOwl:hasDbXref NCI:C7635 semapv:UnspecifiedMatching DOID:5884 benign intermediate mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1337012 semapv:UnspecifiedMatching DOID:5889 anaplastic ependymoma oboInOwl:hasDbXref ICDO:9392/3 semapv:UnspecifiedMatching -DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002881 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref NCI:C34379 semapv:UnspecifiedMatching +DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002881 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref MESH:D000745 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref ICD10CM:D58.9 semapv:UnspecifiedMatching DOID:589 congenital hemolytic anemia oboInOwl:hasDbXref GARD:6167 semapv:UnspecifiedMatching @@ -27185,34 +27210,34 @@ DOID:5890 malignant adult ependymoma oboInOwl:hasDbXref NCI:C8269 semapv:Unspeci DOID:5890 malignant adult ependymoma oboInOwl:hasDbXref UMLS_CUI:C0280787 semapv:UnspecifiedMatching DOID:5893 childhood malignant mesenchymoma oboInOwl:hasDbXref NCI:C8097 semapv:UnspecifiedMatching DOID:5893 childhood malignant mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0279991 semapv:UnspecifiedMatching -DOID:5894 adult malignant mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0279548 semapv:UnspecifiedMatching DOID:5894 adult malignant mesenchymoma oboInOwl:hasDbXref NCI:C7947 semapv:UnspecifiedMatching +DOID:5894 adult malignant mesenchymoma oboInOwl:hasDbXref UMLS_CUI:C0279548 semapv:UnspecifiedMatching DOID:5895 clear cell cystadenofibroma oboInOwl:hasDbXref NCI:C8988 semapv:UnspecifiedMatching DOID:5895 clear cell cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1377853 semapv:UnspecifiedMatching -DOID:5896 ovarian clear cell cystadenofibroma oboInOwl:hasDbXref NCI:C40086 semapv:UnspecifiedMatching DOID:5896 ovarian clear cell cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518695 semapv:UnspecifiedMatching +DOID:5896 ovarian clear cell cystadenofibroma oboInOwl:hasDbXref NCI:C40086 semapv:UnspecifiedMatching DOID:5897 ovarian clear cell adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518694 semapv:UnspecifiedMatching DOID:5897 ovarian clear cell adenofibroma oboInOwl:hasDbXref NCI:C40085 semapv:UnspecifiedMatching -DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref UMLS_CUI:C1266113 semapv:UnspecifiedMatching -DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref ORDO:252046 semapv:UnspecifiedMatching DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref ICDO:8728/1 semapv:UnspecifiedMatching DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref NCI:C4662 semapv:UnspecifiedMatching +DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref ORDO:252046 semapv:UnspecifiedMatching +DOID:5900 meningeal melanocytoma oboInOwl:hasDbXref UMLS_CUI:C1266113 semapv:UnspecifiedMatching DOID:5907 penis non-invasive verrucous carcinoma oboInOwl:hasDbXref NCI:C27791 semapv:UnspecifiedMatching DOID:5907 penis non-invasive verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334984 semapv:UnspecifiedMatching -DOID:5908 penis verrucous carcinoma oboInOwl:hasDbXref NCI:C6982 semapv:UnspecifiedMatching DOID:5908 penis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336955 semapv:UnspecifiedMatching +DOID:5908 penis verrucous carcinoma oboInOwl:hasDbXref NCI:C6982 semapv:UnspecifiedMatching +DOID:591 phobic disorder oboInOwl:hasDbXref MESH:D010698 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref NCI:C35420 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref ICD10CM:F40 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref ICD9CM:300.20 semapv:UnspecifiedMatching -DOID:591 phobic disorder oboInOwl:hasDbXref MESH:D010698 semapv:UnspecifiedMatching DOID:591 phobic disorder oboInOwl:hasDbXref UMLS_CUI:C0349231 semapv:UnspecifiedMatching DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332602 semapv:UnspecifiedMatching DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref NCI:C5823 semapv:UnspecifiedMatching -DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref NCI:C7427 semapv:UnspecifiedMatching DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334330 semapv:UnspecifiedMatching DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref ICDO:8350/3 semapv:UnspecifiedMatching -DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C1519855 semapv:UnspecifiedMatching +DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref NCI:C7427 semapv:UnspecifiedMatching DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref NCI:C40170 semapv:UnspecifiedMatching +DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref UMLS_CUI:C1519855 semapv:UnspecifiedMatching DOID:5921 adult brainstem mixed glioma oboInOwl:hasDbXref NCI:C9371 semapv:UnspecifiedMatching DOID:5921 adult brainstem mixed glioma oboInOwl:hasDbXref UMLS_CUI:C1377915 semapv:UnspecifiedMatching DOID:5922 adult brainstem astrocytoma oboInOwl:hasDbXref NCI:C6954 semapv:UnspecifiedMatching @@ -27221,29 +27246,29 @@ DOID:5923 distal biliary tract carcinoma oboInOwl:hasDbXref NCI:C7109 semapv:Uns DOID:5923 distal biliary tract carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333308 semapv:UnspecifiedMatching DOID:5926 extrahepatic bile duct small cell adenocarcinoma oboInOwl:hasDbXref NCI:C5845 semapv:UnspecifiedMatching DOID:5926 extrahepatic bile duct small cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335979 semapv:UnspecifiedMatching -DOID:593 agoraphobia oboInOwl:hasDbXref UMLS_CUI:C0001818 semapv:UnspecifiedMatching DOID:593 agoraphobia oboInOwl:hasDbXref NCI:C34362 semapv:UnspecifiedMatching +DOID:593 agoraphobia oboInOwl:hasDbXref UMLS_CUI:C0001818 semapv:UnspecifiedMatching DOID:593 agoraphobia oboInOwl:hasDbXref ICD10CM:F40.0 semapv:UnspecifiedMatching DOID:593 agoraphobia oboInOwl:hasDbXref MESH:D000379 semapv:UnspecifiedMatching DOID:5936 ovarian mixed germ cell neoplasm oboInOwl:hasDbXref NCI:C8114 semapv:UnspecifiedMatching DOID:5936 ovarian mixed germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C0280135 semapv:UnspecifiedMatching -DOID:594 panic disorder oboInOwl:hasDbXref OMIM:607853 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref UMLS_CUI:C0030319 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref OMIM:609985 semapv:UnspecifiedMatching +DOID:594 panic disorder oboInOwl:hasDbXref OMIM:607853 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref OMIM:167870 semapv:UnspecifiedMatching -DOID:594 panic disorder oboInOwl:hasDbXref EFO:0004262 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref MESH:D016584 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref ICD10CM:F41.0 semapv:UnspecifiedMatching +DOID:594 panic disorder oboInOwl:hasDbXref EFO:0004262 semapv:UnspecifiedMatching DOID:594 panic disorder oboInOwl:hasDbXref NCI:C34890 semapv:UnspecifiedMatching +DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C3798 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref GARD:10872 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref ICDO:9540/3 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref MESH:D018319 semapv:UnspecifiedMatching -DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C3798 semapv:UnspecifiedMatching DOID:5940 malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C0751690 semapv:UnspecifiedMatching DOID:5948 angiokeratoma of mibelli oboInOwl:hasDbXref UMLS_CUI:C0263640 semapv:UnspecifiedMatching DOID:5948 angiokeratoma of mibelli oboInOwl:hasDbXref NCI:C3927 semapv:UnspecifiedMatching -DOID:5949 angiokeratoma circumscriptum oboInOwl:hasDbXref UMLS_CUI:C0263638 semapv:UnspecifiedMatching DOID:5949 angiokeratoma circumscriptum oboInOwl:hasDbXref NCI:C7751 semapv:UnspecifiedMatching +DOID:5949 angiokeratoma circumscriptum oboInOwl:hasDbXref UMLS_CUI:C0263638 semapv:UnspecifiedMatching DOID:5957 bladder urachal squamous cell carcinoma oboInOwl:hasDbXref NCI:C39845 semapv:UnspecifiedMatching DOID:5957 bladder urachal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511206 semapv:UnspecifiedMatching DOID:5958 bladder urachal carcinoma oboInOwl:hasDbXref MESH:C536475 semapv:UnspecifiedMatching @@ -27254,11 +27279,11 @@ DOID:5973 kidney pelvis papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1377909 DOID:5974 renal pelvis transitional cell carcinoma oboInOwl:hasDbXref NCI:C7355 semapv:UnspecifiedMatching DOID:5975 renal pelvis papillary tumor oboInOwl:hasDbXref NCI:C8603 semapv:UnspecifiedMatching DOID:5975 renal pelvis papillary tumor oboInOwl:hasDbXref UMLS_CUI:C0853688 semapv:UnspecifiedMatching -DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref ICD10CM:I65.9 semapv:UnspecifiedMatching -DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref ICD9CM:433.9 semapv:UnspecifiedMatching DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref UMLS_CUI:C0155727 semapv:UnspecifiedMatching -DOID:5977 renal pelvis benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346260 semapv:UnspecifiedMatching +DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref ICD9CM:433.9 semapv:UnspecifiedMatching +DOID:5976 occlusion precerebral artery oboInOwl:hasDbXref ICD10CM:I65.9 semapv:UnspecifiedMatching DOID:5977 renal pelvis benign neoplasm oboInOwl:hasDbXref NCI:C8404 semapv:UnspecifiedMatching +DOID:5977 renal pelvis benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346260 semapv:UnspecifiedMatching DOID:5982 kidney fibrosarcoma oboInOwl:hasDbXref NCI:C7726 semapv:UnspecifiedMatching DOID:5982 kidney fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0238208 semapv:UnspecifiedMatching DOID:5983 kidney osteogenic sarcoma oboInOwl:hasDbXref NCI:C6181 semapv:UnspecifiedMatching @@ -27272,8 +27297,8 @@ DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref NCI:C5307 semapv DOID:5990 internal auditory canal meningioma oboInOwl:hasDbXref UMLS_CUI:C1334227 semapv:UnspecifiedMatching DOID:5997 non-proliferative fibrocystic change of the breast oboInOwl:hasDbXref UMLS_CUI:C1332628 semapv:UnspecifiedMatching DOID:5997 non-proliferative fibrocystic change of the breast oboInOwl:hasDbXref NCI:C6943 semapv:UnspecifiedMatching -DOID:5998 microglandular adenosis oboInOwl:hasDbXref NCI:C3484 semapv:UnspecifiedMatching DOID:5998 microglandular adenosis oboInOwl:hasDbXref UMLS_CUI:C0085750 semapv:UnspecifiedMatching +DOID:5998 microglandular adenosis oboInOwl:hasDbXref NCI:C3484 semapv:UnspecifiedMatching DOID:5998 microglandular adenosis oboInOwl:hasDbXref MESH:D005348 semapv:UnspecifiedMatching DOID:5999 apocrine adenosis of breast oboInOwl:hasDbXref NCI:C5198 semapv:UnspecifiedMatching DOID:5999 apocrine adenosis of breast oboInOwl:hasDbXref UMLS_CUI:C1332314 semapv:UnspecifiedMatching @@ -27303,8 +27328,8 @@ DOID:6017 central nervous system mature teratoma oboInOwl:hasDbXref NCI:C7013 se DOID:6017 central nervous system mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332886 semapv:UnspecifiedMatching DOID:6018 adult central nervous system immature teratoma oboInOwl:hasDbXref NCI:C27401 semapv:UnspecifiedMatching DOID:6018 adult central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332193 semapv:UnspecifiedMatching -DOID:6019 central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332883 semapv:UnspecifiedMatching DOID:6019 central nervous system immature teratoma oboInOwl:hasDbXref NCI:C7014 semapv:UnspecifiedMatching +DOID:6019 central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332883 semapv:UnspecifiedMatching DOID:602 cancerophobia oboInOwl:hasDbXref UMLS_CUI:C0233705 semapv:UnspecifiedMatching DOID:602 cancerophobia oboInOwl:hasDbXref NCI:C35492 semapv:UnspecifiedMatching DOID:6024 selective IgE deficiency disease oboInOwl:hasDbXref NCI:C27143 semapv:UnspecifiedMatching @@ -27319,10 +27344,10 @@ DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_ DOID:6032 juvenile type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C1515285 semapv:UnspecifiedMatching DOID:6033 heart fibrosarcoma oboInOwl:hasDbXref NCI:C5361 semapv:UnspecifiedMatching DOID:6033 heart fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332844 semapv:UnspecifiedMatching -DOID:6034 heart malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1334567 semapv:UnspecifiedMatching DOID:6034 heart malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C5365 semapv:UnspecifiedMatching -DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref NCI:C7986 semapv:UnspecifiedMatching +DOID:6034 heart malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C1334567 semapv:UnspecifiedMatching DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref UMLS_CUI:C0279687 semapv:UnspecifiedMatching +DOID:6037 spindle cell intraocular melanoma oboInOwl:hasDbXref NCI:C7986 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref MESH:C536494 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref NCI:C7712 semapv:UnspecifiedMatching DOID:6039 uveal melanoma oboInOwl:hasDbXref OMIM:155720 semapv:UnspecifiedMatching @@ -27334,12 +27359,12 @@ DOID:6041 choroid spindle cell melanoma oboInOwl:hasDbXref NCI:C6099 semapv:Unsp DOID:6041 choroid spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333027 semapv:UnspecifiedMatching DOID:6043 ciliary body spindle cell melanoma oboInOwl:hasDbXref NCI:C6117 semapv:UnspecifiedMatching DOID:6043 ciliary body spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333052 semapv:UnspecifiedMatching -DOID:6048 telangiectatic glomangioma oboInOwl:hasDbXref UMLS_CUI:C1336699 semapv:UnspecifiedMatching DOID:6048 telangiectatic glomangioma oboInOwl:hasDbXref NCI:C5345 semapv:UnspecifiedMatching -DOID:605 flying phobia oboInOwl:hasDbXref NCI:C35413 semapv:UnspecifiedMatching +DOID:6048 telangiectatic glomangioma oboInOwl:hasDbXref UMLS_CUI:C1336699 semapv:UnspecifiedMatching DOID:605 flying phobia oboInOwl:hasDbXref UMLS_CUI:C0344318 semapv:UnspecifiedMatching -DOID:605 flying phobia oboInOwl:hasDbXref ICD10CM:F40.243 semapv:UnspecifiedMatching +DOID:605 flying phobia oboInOwl:hasDbXref NCI:C35413 semapv:UnspecifiedMatching DOID:605 flying phobia oboInOwl:hasDbXref MESH:C000719189 semapv:UnspecifiedMatching +DOID:605 flying phobia oboInOwl:hasDbXref ICD10CM:F40.243 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref ICD10CM:K22.9 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref ICD9CM:530.9 semapv:UnspecifiedMatching DOID:6050 esophageal disease oboInOwl:hasDbXref MESH:D004935 semapv:UnspecifiedMatching @@ -27364,12 +27389,12 @@ DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref NCI:C40033 semapv:Unspeci DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref NCI:C5242 semapv:UnspecifiedMatching DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref UMLS_CUI:C1335168 semapv:UnspecifiedMatching DOID:6067 ovarian mucinous neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518233 semapv:UnspecifiedMatching -DOID:607 paraplegia oboInOwl:hasDbXref NCI:C50687 semapv:UnspecifiedMatching +DOID:607 paraplegia oboInOwl:hasDbXref UMLS_CUI:C0030486 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref GARD:7327 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref ICD10CM:G82.2 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref ICD9CM:344.1 semapv:UnspecifiedMatching DOID:607 paraplegia oboInOwl:hasDbXref MESH:D010264 semapv:UnspecifiedMatching -DOID:607 paraplegia oboInOwl:hasDbXref UMLS_CUI:C0030486 semapv:UnspecifiedMatching +DOID:607 paraplegia oboInOwl:hasDbXref NCI:C50687 semapv:UnspecifiedMatching DOID:6082 childhood testicular germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0796663 semapv:UnspecifiedMatching DOID:6082 childhood testicular germ cell tumor oboInOwl:hasDbXref NCI:C6552 semapv:UnspecifiedMatching DOID:6083 childhood ovarian endodermal sinus tumor oboInOwl:hasDbXref NCI:C6551 semapv:UnspecifiedMatching @@ -27379,22 +27404,22 @@ DOID:6084 childhood ovarian germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C0796664 DOID:6085 meningeal melanoma oboInOwl:hasDbXref ICDO:8720/3 semapv:UnspecifiedMatching DOID:6085 meningeal melanoma oboInOwl:hasDbXref NCI:C5317 semapv:UnspecifiedMatching DOID:6085 meningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1334386 semapv:UnspecifiedMatching -DOID:6086 malignant leptomeningeal neoplasm oboInOwl:hasDbXref NCI:C8506 semapv:UnspecifiedMatching DOID:6086 malignant leptomeningeal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334596 semapv:UnspecifiedMatching +DOID:6086 malignant leptomeningeal neoplasm oboInOwl:hasDbXref NCI:C8506 semapv:UnspecifiedMatching DOID:6088 acute stress disorder oboInOwl:hasDbXref ICD9CM:308.3 semapv:UnspecifiedMatching DOID:6088 acute stress disorder oboInOwl:hasDbXref UMLS_CUI:C0029488 semapv:UnspecifiedMatching DOID:6089 childhood leptomeningeal melanoma oboInOwl:hasDbXref NCI:C5318 semapv:UnspecifiedMatching DOID:6089 childhood leptomeningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1332976 semapv:UnspecifiedMatching -DOID:6090 adult leptomeningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1332204 semapv:UnspecifiedMatching DOID:6090 adult leptomeningeal melanoma oboInOwl:hasDbXref NCI:C5319 semapv:UnspecifiedMatching +DOID:6090 adult leptomeningeal melanoma oboInOwl:hasDbXref UMLS_CUI:C1332204 semapv:UnspecifiedMatching +DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336733 semapv:UnspecifiedMatching +DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346902 semapv:UnspecifiedMatching DOID:6098 thalamic neoplasm oboInOwl:hasDbXref NCI:C4576 semapv:UnspecifiedMatching DOID:6098 thalamic neoplasm oboInOwl:hasDbXref NCI:C6221 semapv:UnspecifiedMatching -DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0346902 semapv:UnspecifiedMatching -DOID:6098 thalamic neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336733 semapv:UnspecifiedMatching -DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:394.1 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD10CM:I05 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD10CM:I05.1 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:394 semapv:UnspecifiedMatching +DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:394.1 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref ICD9CM:424.0 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref NCI:C78446 semapv:UnspecifiedMatching DOID:61 mitral valve disease oboInOwl:hasDbXref UMLS_CUI:C0026265 semapv:UnspecifiedMatching @@ -27435,40 +27460,40 @@ DOID:6126 anal canal carcinoma oboInOwl:hasDbXref OMIM:105580 semapv:Unspecified DOID:6126 anal canal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0563211 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref UMLS_CUI:C0334576 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref NCI:C4318 semapv:UnspecifiedMatching -DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref MESH:D018302 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref ICDO:9381/3 semapv:UnspecifiedMatching DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref GARD:6514 semapv:UnspecifiedMatching +DOID:6128 gliomatosis cerebri oboInOwl:hasDbXref MESH:D018302 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0008677 semapv:UnspecifiedMatching +DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0149514 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0006277 semapv:UnspecifiedMatching -DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C2911 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C26932 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C26722 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref MESH:D029481 semapv:UnspecifiedMatching -DOID:6132 bronchitis oboInOwl:hasDbXref UMLS_CUI:C0149514 semapv:UnspecifiedMatching +DOID:6132 bronchitis oboInOwl:hasDbXref NCI:C2911 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD9CM:491 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD9CM:490 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD9CM:466.0 semapv:UnspecifiedMatching +DOID:6132 bronchitis oboInOwl:hasDbXref MESH:D001991 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD10CM:J42 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD10CM:J40 semapv:UnspecifiedMatching DOID:6132 bronchitis oboInOwl:hasDbXref ICD10CM:J20 semapv:UnspecifiedMatching -DOID:6132 bronchitis oboInOwl:hasDbXref MESH:D001991 semapv:UnspecifiedMatching -DOID:6139 uterine corpus epithelioid leiomyosarcoma oboInOwl:hasDbXref NCI:C40174 semapv:UnspecifiedMatching DOID:6139 uterine corpus epithelioid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519851 semapv:UnspecifiedMatching -DOID:614 lymphopenia oboInOwl:hasDbXref UMLS_CUI:C0024312 semapv:UnspecifiedMatching -DOID:614 lymphopenia oboInOwl:hasDbXref MESH:D008231 semapv:UnspecifiedMatching -DOID:614 lymphopenia oboInOwl:hasDbXref ICD9CM:288.51 semapv:UnspecifiedMatching +DOID:6139 uterine corpus epithelioid leiomyosarcoma oboInOwl:hasDbXref NCI:C40174 semapv:UnspecifiedMatching DOID:614 lymphopenia oboInOwl:hasDbXref ICD10CM:D72.810 semapv:UnspecifiedMatching +DOID:614 lymphopenia oboInOwl:hasDbXref ICD9CM:288.51 semapv:UnspecifiedMatching +DOID:614 lymphopenia oboInOwl:hasDbXref MESH:D008231 semapv:UnspecifiedMatching +DOID:614 lymphopenia oboInOwl:hasDbXref UMLS_CUI:C0024312 semapv:UnspecifiedMatching DOID:6148 nasal cavity carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.3 semapv:UnspecifiedMatching DOID:6148 nasal cavity carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0347095 semapv:UnspecifiedMatching -DOID:615 leukopenia oboInOwl:hasDbXref ICD10CM:D72.819 semapv:UnspecifiedMatching -DOID:615 leukopenia oboInOwl:hasDbXref ICD9CM:288.50 semapv:UnspecifiedMatching -DOID:615 leukopenia oboInOwl:hasDbXref MESH:D007970 semapv:UnspecifiedMatching DOID:615 leukopenia oboInOwl:hasDbXref UMLS_CUI:C0023530 semapv:UnspecifiedMatching +DOID:615 leukopenia oboInOwl:hasDbXref MESH:D007970 semapv:UnspecifiedMatching DOID:615 leukopenia skos:exactMatch MESH:D007970 semapv:UnspecifiedMatching -DOID:6160 childhood choriocarcinoma of the testis oboInOwl:hasDbXref NCI:C6544 semapv:UnspecifiedMatching +DOID:615 leukopenia oboInOwl:hasDbXref ICD10CM:D72.819 semapv:UnspecifiedMatching +DOID:615 leukopenia oboInOwl:hasDbXref ICD9CM:288.50 semapv:UnspecifiedMatching DOID:6160 childhood choriocarcinoma of the testis oboInOwl:hasDbXref UMLS_CUI:C1333006 semapv:UnspecifiedMatching -DOID:6161 childhood testicular mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1333009 semapv:UnspecifiedMatching +DOID:6160 childhood choriocarcinoma of the testis oboInOwl:hasDbXref NCI:C6544 semapv:UnspecifiedMatching DOID:6161 childhood testicular mixed germ cell tumor oboInOwl:hasDbXref NCI:C6542 semapv:UnspecifiedMatching +DOID:6161 childhood testicular mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1333009 semapv:UnspecifiedMatching DOID:6162 childhood embryonal testis carcinoma oboInOwl:hasDbXref NCI:C6545 semapv:UnspecifiedMatching DOID:6162 childhood embryonal testis carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333007 semapv:UnspecifiedMatching DOID:6163 familial renal papillary carcinoma oboInOwl:hasDbXref NCI:C9222 semapv:UnspecifiedMatching @@ -27498,9 +27523,9 @@ DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref NCI:C3714 semapv:UnspecifiedMat DOID:6193 epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0205944 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009763 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref NCI:C34504 semapv:UnspecifiedMatching -DOID:6195 conjunctivitis oboInOwl:hasDbXref MESH:D003231 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref ICD9CM:372.30 semapv:UnspecifiedMatching DOID:6195 conjunctivitis oboInOwl:hasDbXref ICD10CM:H10 semapv:UnspecifiedMatching +DOID:6195 conjunctivitis oboInOwl:hasDbXref MESH:D003231 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref GARD:5693 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref ICD10CM:M02.10 semapv:UnspecifiedMatching DOID:6196 reactive arthritis oboInOwl:hasDbXref ICD10CM:M02.3 semapv:UnspecifiedMatching @@ -27528,8 +27553,8 @@ DOID:620 blood protein disease oboInOwl:hasDbXref MESH:D001796 semapv:Unspecifie DOID:620 blood protein disease oboInOwl:hasDbXref UMLS_CUI:C0005830 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0854883 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1335381 semapv:UnspecifiedMatching -DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C8703 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0346110 semapv:UnspecifiedMatching +DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C8703 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C7632 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref NCI:C7631 semapv:UnspecifiedMatching DOID:6201 pericardial mesothelioma oboInOwl:hasDbXref ICD10CM:C45.2 semapv:UnspecifiedMatching @@ -27552,8 +27577,8 @@ DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C1335159 semapv DOID:6212 ovarian endometrial cancer oboInOwl:hasDbXref UMLS_CUI:C1518231 semapv:UnspecifiedMatching DOID:6214 ovarian papillary neoplasm oboInOwl:hasDbXref NCI:C8430 semapv:UnspecifiedMatching DOID:6214 ovarian papillary neoplasm oboInOwl:hasDbXref UMLS_CUI:C0476121 semapv:UnspecifiedMatching -DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref NCI:C9159 semapv:UnspecifiedMatching DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref NCI:C4127 semapv:UnspecifiedMatching +DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref NCI:C9159 semapv:UnspecifiedMatching DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279635 semapv:UnspecifiedMatching DOID:6217 gastric diffuse adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334280 semapv:UnspecifiedMatching DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref NCI:C7035 semapv:UnspecifiedMatching @@ -27561,8 +27586,8 @@ DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref OMIM:175500 semapv:Unspec DOID:6225 Cronkhite-Canada syndrome oboInOwl:hasDbXref UMLS_CUI:C1333764 semapv:UnspecifiedMatching DOID:6227 articular cartilage disease oboInOwl:hasDbXref UMLS_CUI:C0158073 semapv:UnspecifiedMatching DOID:6227 articular cartilage disease oboInOwl:hasDbXref ICD9CM:718.0 semapv:UnspecifiedMatching -DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1368918 semapv:UnspecifiedMatching DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref NCI:C7695 semapv:UnspecifiedMatching +DOID:6228 peritoneal serous papillary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1368918 semapv:UnspecifiedMatching DOID:6229 childhood mature teratoma of the ovary oboInOwl:hasDbXref NCI:C6548 semapv:UnspecifiedMatching DOID:6229 childhood mature teratoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1332991 semapv:UnspecifiedMatching DOID:6230 childhood teratoma of the ovary oboInOwl:hasDbXref NCI:C6554 semapv:UnspecifiedMatching @@ -27571,13 +27596,13 @@ DOID:6231 mature teratoma of the ovary oboInOwl:hasDbXref NCI:C8112 semapv:Unspe DOID:6231 mature teratoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1334637 semapv:UnspecifiedMatching DOID:6232 ovarian biphasic or triphasic teratoma oboInOwl:hasDbXref NCI:C39992 semapv:UnspecifiedMatching DOID:6232 ovarian biphasic or triphasic teratoma oboInOwl:hasDbXref UMLS_CUI:C1518691 semapv:UnspecifiedMatching +DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518358 semapv:UnspecifiedMatching DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref NCI:C27884 semapv:UnspecifiedMatching DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref NCI:C39831 semapv:UnspecifiedMatching DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1266010 semapv:UnspecifiedMatching -DOID:6239 non-invasive bladder papillary urothelial neoplasm oboInOwl:hasDbXref UMLS_CUI:C1518358 semapv:UnspecifiedMatching -DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref NCI:C27071 semapv:UnspecifiedMatching DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS_CUI:C0272238 semapv:UnspecifiedMatching DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref ICD10CM:D80.7 semapv:UnspecifiedMatching +DOID:624 transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref NCI:C27071 semapv:UnspecifiedMatching DOID:6244 familial renal oncocytoma oboInOwl:hasDbXref NCI:C8960 semapv:UnspecifiedMatching DOID:6244 familial renal oncocytoma oboInOwl:hasDbXref UMLS_CUI:C0879606 semapv:UnspecifiedMatching DOID:6245 renal oncocytoma oboInOwl:hasDbXref GARD:8477 semapv:UnspecifiedMatching @@ -27592,10 +27617,10 @@ DOID:625 transient hypogammaglobulinemia oboInOwl:hasDbXref UMLS_CUI:C0859960 se DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref NCI:C7461 semapv:UnspecifiedMatching DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref MESH:D049912 semapv:UnspecifiedMatching DOID:6255 growth hormone secreting pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C0346302 semapv:UnspecifiedMatching -DOID:6256 malignant growth hormone secreting neoplasm of pituitary oboInOwl:hasDbXref NCI:C5963 semapv:UnspecifiedMatching DOID:6256 malignant growth hormone secreting neoplasm of pituitary oboInOwl:hasDbXref UMLS_CUI:C1334587 semapv:UnspecifiedMatching -DOID:6257 chromophil adenoma of the kidney oboInOwl:hasDbXref UMLS_CUI:C1518879 semapv:UnspecifiedMatching +DOID:6256 malignant growth hormone secreting neoplasm of pituitary oboInOwl:hasDbXref NCI:C5963 semapv:UnspecifiedMatching DOID:6257 chromophil adenoma of the kidney oboInOwl:hasDbXref NCI:C3687 semapv:UnspecifiedMatching +DOID:6257 chromophil adenoma of the kidney oboInOwl:hasDbXref UMLS_CUI:C1518879 semapv:UnspecifiedMatching DOID:6258 type 1 papillary adenoma of the kidney oboInOwl:hasDbXref NCI:C39809 semapv:UnspecifiedMatching DOID:6258 type 1 papillary adenoma of the kidney oboInOwl:hasDbXref UMLS_CUI:C1519706 semapv:UnspecifiedMatching DOID:6259 type 2 papillary adenoma of the kidney oboInOwl:hasDbXref NCI:C39810 semapv:UnspecifiedMatching @@ -27604,14 +27629,14 @@ DOID:626 complement deficiency oboInOwl:hasDbXref ICD10CM:D84.1 semapv:Unspecifi DOID:626 complement deficiency oboInOwl:hasDbXref MESH:D000081208 semapv:UnspecifiedMatching DOID:626 complement deficiency oboInOwl:hasDbXref NCI:C4691 semapv:UnspecifiedMatching DOID:626 complement deficiency oboInOwl:hasDbXref UMLS_CUI:C0272242 semapv:UnspecifiedMatching -DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching -DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref ICDO:9758/3 semapv:UnspecifiedMatching +DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260325 semapv:UnspecifiedMatching DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054740 semapv:UnspecifiedMatching DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref NCI:C9281 semapv:UnspecifiedMatching -DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260325 semapv:UnspecifiedMatching -DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0278601 semapv:UnspecifiedMatching -DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref NCI:C4001 semapv:UnspecifiedMatching +DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching +DOID:6262 follicular dendritic cell sarcoma oboInOwl:hasDbXref ICDO:9758/3 semapv:UnspecifiedMatching DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref MESH:D058922 semapv:UnspecifiedMatching +DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref NCI:C4001 semapv:UnspecifiedMatching +DOID:6263 inflammatory breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0278601 semapv:UnspecifiedMatching DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref GARD:7628 semapv:UnspecifiedMatching DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref MESH:D016511 semapv:UnspecifiedMatching DOID:627 severe combined immunodeficiency oboInOwl:hasDbXref NCI:C3472 semapv:UnspecifiedMatching @@ -27622,8 +27647,8 @@ DOID:6271 gastric cardia adenocarcinoma oboInOwl:hasDbXref NCI:C5247 semapv:Unsp DOID:6271 gastric cardia adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333762 semapv:UnspecifiedMatching DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland oboInOwl:hasDbXref NCI:C5965 semapv:UnspecifiedMatching DOID:6274 malignant thyroid stimulating hormone producing neoplasm of pituitary gland oboInOwl:hasDbXref UMLS_CUI:C1334627 semapv:UnspecifiedMatching -DOID:6275 TSH producing pituitary tumor oboInOwl:hasDbXref NCI:C8011 semapv:UnspecifiedMatching DOID:6275 TSH producing pituitary tumor oboInOwl:hasDbXref UMLS_CUI:C0346303 semapv:UnspecifiedMatching +DOID:6275 TSH producing pituitary tumor oboInOwl:hasDbXref NCI:C8011 semapv:UnspecifiedMatching DOID:6276 malignant ACTH producing neoplasm of pituitary gland oboInOwl:hasDbXref NCI:C5964 semapv:UnspecifiedMatching DOID:6276 malignant ACTH producing neoplasm of pituitary gland oboInOwl:hasDbXref UMLS_CUI:C1334556 semapv:UnspecifiedMatching DOID:6278 ovarian mucinous malignant adenofibroma oboInOwl:hasDbXref NCI:C40034 semapv:UnspecifiedMatching @@ -27636,14 +27661,14 @@ DOID:6284 epicardium lipoma oboInOwl:hasDbXref NCI:C6742 semapv:UnspecifiedMatch DOID:6284 epicardium lipoma oboInOwl:hasDbXref UMLS_CUI:C1333411 semapv:UnspecifiedMatching DOID:6285 heart lipoma oboInOwl:hasDbXref NCI:C6741 semapv:UnspecifiedMatching DOID:6285 heart lipoma oboInOwl:hasDbXref UMLS_CUI:C1332849 semapv:UnspecifiedMatching -DOID:6286 childhood cerebellar astrocytic neoplasm oboInOwl:hasDbXref NCI:C6286 semapv:UnspecifiedMatching DOID:6286 childhood cerebellar astrocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0278594 semapv:UnspecifiedMatching -DOID:6291 cerebral hemisphere lipoma oboInOwl:hasDbXref NCI:C6220 semapv:UnspecifiedMatching +DOID:6286 childhood cerebellar astrocytic neoplasm oboInOwl:hasDbXref NCI:C6286 semapv:UnspecifiedMatching DOID:6291 cerebral hemisphere lipoma oboInOwl:hasDbXref UMLS_CUI:C1332907 semapv:UnspecifiedMatching +DOID:6291 cerebral hemisphere lipoma oboInOwl:hasDbXref NCI:C6220 semapv:UnspecifiedMatching DOID:6293 central nervous system lipoma oboInOwl:hasDbXref NCI:C5451 semapv:UnspecifiedMatching DOID:6293 central nervous system lipoma oboInOwl:hasDbXref UMLS_CUI:C1332885 semapv:UnspecifiedMatching -DOID:6294 corpus callosum lipoma oboInOwl:hasDbXref UMLS_CUI:C1333160 semapv:UnspecifiedMatching DOID:6294 corpus callosum lipoma oboInOwl:hasDbXref NCI:C5438 semapv:UnspecifiedMatching +DOID:6294 corpus callosum lipoma oboInOwl:hasDbXref UMLS_CUI:C1333160 semapv:UnspecifiedMatching DOID:6297 viral esophagitis oboInOwl:hasDbXref NCI:C27108 semapv:UnspecifiedMatching DOID:6297 viral esophagitis oboInOwl:hasDbXref UMLS_CUI:C0341110 semapv:UnspecifiedMatching DOID:630 genetic disease oboInOwl:hasDbXref MESH:D030342 semapv:UnspecifiedMatching @@ -27651,14 +27676,14 @@ DOID:630 genetic disease oboInOwl:hasDbXref NCI:C3101 semapv:UnspecifiedMatching DOID:630 genetic disease oboInOwl:hasDbXref UMLS_CUI:C0019247 semapv:UnspecifiedMatching DOID:6307 ectopic thymus oboInOwl:hasDbXref NCI:C27804 semapv:UnspecifiedMatching DOID:6307 ectopic thymus oboInOwl:hasDbXref UMLS_CUI:C1333375 semapv:UnspecifiedMatching -DOID:631 fibromyalgia oboInOwl:hasDbXref ICD10CM:M79.7 semapv:UnspecifiedMatching DOID:631 fibromyalgia oboInOwl:hasDbXref MESH:D005356 semapv:UnspecifiedMatching DOID:631 fibromyalgia oboInOwl:hasDbXref NCI:C87497 semapv:UnspecifiedMatching +DOID:631 fibromyalgia oboInOwl:hasDbXref ICD10CM:M79.7 semapv:UnspecifiedMatching DOID:631 fibromyalgia oboInOwl:hasDbXref UMLS_CUI:C0016053 semapv:UnspecifiedMatching DOID:6312 clivus chordoma oboInOwl:hasDbXref UMLS_CUI:C1333071 semapv:UnspecifiedMatching DOID:6312 clivus chordoma oboInOwl:hasDbXref NCI:C5412 semapv:UnspecifiedMatching -DOID:6313 clivus chondroid chordoma oboInOwl:hasDbXref UMLS_CUI:C1333072 semapv:UnspecifiedMatching DOID:6313 clivus chondroid chordoma oboInOwl:hasDbXref NCI:C5426 semapv:UnspecifiedMatching +DOID:6313 clivus chondroid chordoma oboInOwl:hasDbXref UMLS_CUI:C1333072 semapv:UnspecifiedMatching DOID:6314 ovarian fetiform teratoma oboInOwl:hasDbXref NCI:C39996 semapv:UnspecifiedMatching DOID:6314 ovarian fetiform teratoma oboInOwl:hasDbXref UMLS_CUI:C1518715 semapv:UnspecifiedMatching DOID:6315 ovarian solid teratoma oboInOwl:hasDbXref NCI:C7285 semapv:UnspecifiedMatching @@ -27667,13 +27692,13 @@ DOID:6316 Bartholin's gland adenocarcinoma oboInOwl:hasDbXref NCI:C7719 semapv:U DOID:6316 Bartholin's gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0238016 semapv:UnspecifiedMatching DOID:6322 tibial adamantinoma oboInOwl:hasDbXref NCI:C8461 semapv:UnspecifiedMatching DOID:6322 tibial adamantinoma oboInOwl:hasDbXref UMLS_CUI:C1273017 semapv:UnspecifiedMatching -DOID:633 myositis oboInOwl:hasDbXref ICD10CM:M60 semapv:UnspecifiedMatching -DOID:633 myositis oboInOwl:hasDbXref MESH:D009220 semapv:UnspecifiedMatching +DOID:633 myositis oboInOwl:hasDbXref UMLS_CUI:C0027121 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref NCI:C27578 semapv:UnspecifiedMatching DOID:633 myositis oboInOwl:hasDbXref OMIM:160750 semapv:UnspecifiedMatching -DOID:633 myositis oboInOwl:hasDbXref UMLS_CUI:C0027121 semapv:UnspecifiedMatching -DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346182 semapv:UnspecifiedMatching +DOID:633 myositis oboInOwl:hasDbXref ICD10CM:M60 semapv:UnspecifiedMatching +DOID:633 myositis oboInOwl:hasDbXref MESH:D009220 semapv:UnspecifiedMatching DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref NCI:C8111 semapv:UnspecifiedMatching +DOID:6331 immature teratoma of ovary oboInOwl:hasDbXref UMLS_CUI:C0346182 semapv:UnspecifiedMatching DOID:6332 adult malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C7946 semapv:UnspecifiedMatching DOID:6332 adult malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0279547 semapv:UnspecifiedMatching DOID:6333 adult intracranial malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C9183 semapv:UnspecifiedMatching @@ -27686,8 +27711,8 @@ DOID:6335 bilateral meningioma of optic nerve oboInOwl:hasDbXref UMLS_CUI:C13325 DOID:6337 cerebellopontine angle meningioma oboInOwl:hasDbXref NCI:C5300 semapv:UnspecifiedMatching DOID:6337 cerebellopontine angle meningioma oboInOwl:hasDbXref UMLS_CUI:C1263882 semapv:UnspecifiedMatching DOID:6339 vulvar eccrine adenocarcinoma oboInOwl:hasDbXref NCI:C40305 semapv:UnspecifiedMatching -DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C1321709 semapv:UnspecifiedMatching DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C6910 semapv:UnspecifiedMatching +DOID:6344 melanotic psammomatous malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C1321709 semapv:UnspecifiedMatching DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath oboInOwl:hasDbXref NCI:C4748 semapv:UnspecifiedMatching DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath oboInOwl:hasDbXref UMLS_CUI:C0474847 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref EFO:0000765 semapv:UnspecifiedMatching @@ -27696,13 +27721,15 @@ DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref MESH:D000163 sema DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref NCI:C2851 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome oboInOwl:hasDbXref UMLS_CUI:C0001175 semapv:UnspecifiedMatching DOID:635 acquired immunodeficiency syndrome skos:exactMatch MESH:D000163 semapv:UnspecifiedMatching +DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref ICDO:9823/3 semapv:UnspecifiedMatching DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref NCI:C27911 semapv:UnspecifiedMatching DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C1302547 semapv:UnspecifiedMatching -DOID:636 central pontine myelinolysis oboInOwl:hasDbXref NCI:C84623 semapv:UnspecifiedMatching DOID:636 central pontine myelinolysis oboInOwl:hasDbXref UMLS_CUI:C0206083 semapv:UnspecifiedMatching -DOID:636 central pontine myelinolysis oboInOwl:hasDbXref MESH:D017590 semapv:UnspecifiedMatching -DOID:636 central pontine myelinolysis oboInOwl:hasDbXref ICD10CM:G37.2 semapv:UnspecifiedMatching +DOID:636 central pontine myelinolysis oboInOwl:hasDbXref NCI:C84623 semapv:UnspecifiedMatching DOID:636 central pontine myelinolysis oboInOwl:hasDbXref GARD:8749 semapv:UnspecifiedMatching +DOID:636 central pontine myelinolysis oboInOwl:hasDbXref ICD10CM:G37.2 semapv:UnspecifiedMatching +DOID:636 central pontine myelinolysis oboInOwl:hasDbXref MESH:D017590 semapv:UnspecifiedMatching +DOID:6364 migraine oboInOwl:hasDbXref UMLS_CUI:C0149931 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref EFO:0003821 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref ICD10CM:G43 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref ICD9CM:346 semapv:UnspecifiedMatching @@ -27710,74 +27737,73 @@ DOID:6364 migraine oboInOwl:hasDbXref MESH:D008881 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref NCI:C89715 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref OMIM:157300 semapv:UnspecifiedMatching DOID:6364 migraine oboInOwl:hasDbXref UMLS_CUI:C0042331 semapv:UnspecifiedMatching -DOID:6364 migraine oboInOwl:hasDbXref UMLS_CUI:C0149931 semapv:UnspecifiedMatching DOID:6367 acral lentiginous melanoma oboInOwl:hasDbXref GARD:9570 semapv:UnspecifiedMatching -DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref NCI:C5833 semapv:UnspecifiedMatching DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333974 semapv:UnspecifiedMatching -DOID:6376 hypersplenism oboInOwl:hasDbXref NCI:C34714 semapv:UnspecifiedMatching +DOID:6370 hepatic osteogenic sarcoma oboInOwl:hasDbXref NCI:C5833 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref MESH:D006971 semapv:UnspecifiedMatching -DOID:6376 hypersplenism oboInOwl:hasDbXref UMLS_CUI:C0020532 semapv:UnspecifiedMatching +DOID:6376 hypersplenism oboInOwl:hasDbXref NCI:C34714 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref ICD10CM:D73.1 semapv:UnspecifiedMatching DOID:6376 hypersplenism oboInOwl:hasDbXref ICD9CM:289.4 semapv:UnspecifiedMatching -DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref ORDO:252031 semapv:UnspecifiedMatching +DOID:6376 hypersplenism oboInOwl:hasDbXref UMLS_CUI:C0020532 semapv:UnspecifiedMatching DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref UMLS_CUI:C1266112 semapv:UnspecifiedMatching +DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref ORDO:252031 semapv:UnspecifiedMatching DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref ICDO:8728/0 semapv:UnspecifiedMatching DOID:6379 diffuse meningeal melanocytosis oboInOwl:hasDbXref NCI:C6890 semapv:UnspecifiedMatching -DOID:6381 anterior foramen magnum meningioma oboInOwl:hasDbXref UMLS_CUI:C1332302 semapv:UnspecifiedMatching DOID:6381 anterior foramen magnum meningioma oboInOwl:hasDbXref NCI:C5281 semapv:UnspecifiedMatching +DOID:6381 anterior foramen magnum meningioma oboInOwl:hasDbXref UMLS_CUI:C1332302 semapv:UnspecifiedMatching DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref GARD:9306 semapv:UnspecifiedMatching DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref NCI:C9042 semapv:UnspecifiedMatching DOID:6383 childhood brain stem glioma oboInOwl:hasDbXref UMLS_CUI:C0278600 semapv:UnspecifiedMatching DOID:6386 childhood brainstem astrocytoma oboInOwl:hasDbXref NCI:C6216 semapv:UnspecifiedMatching DOID:6386 childhood brainstem astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1332950 semapv:UnspecifiedMatching -DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref NCI:C34578 semapv:UnspecifiedMatching -DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS_CUI:C0014059 semapv:UnspecifiedMatching DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref GARD:8639 semapv:UnspecifiedMatching DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref MESH:D004673 semapv:UnspecifiedMatching -DOID:640 encephalomyelitis oboInOwl:hasDbXref MESH:D004679 semapv:UnspecifiedMatching -DOID:640 encephalomyelitis oboInOwl:hasDbXref NCI:C34580 semapv:UnspecifiedMatching +DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref NCI:C34578 semapv:UnspecifiedMatching +DOID:639 acute disseminated encephalomyelitis oboInOwl:hasDbXref UMLS_CUI:C0014059 semapv:UnspecifiedMatching DOID:640 encephalomyelitis oboInOwl:hasDbXref UMLS_CUI:C0014070 semapv:UnspecifiedMatching DOID:640 encephalomyelitis skos:exactMatch MESH:D004679 semapv:UnspecifiedMatching -DOID:6404 metanephric adenoma oboInOwl:hasDbXref UMLS_CUI:C1266045 semapv:UnspecifiedMatching +DOID:640 encephalomyelitis oboInOwl:hasDbXref MESH:D004679 semapv:UnspecifiedMatching +DOID:640 encephalomyelitis oboInOwl:hasDbXref NCI:C34580 semapv:UnspecifiedMatching DOID:6404 metanephric adenoma oboInOwl:hasDbXref ICDO:8325/0 semapv:UnspecifiedMatching DOID:6404 metanephric adenoma oboInOwl:hasDbXref NCI:C27253 semapv:UnspecifiedMatching -DOID:6405 ovarian papillary cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335175 semapv:UnspecifiedMatching +DOID:6404 metanephric adenoma oboInOwl:hasDbXref UMLS_CUI:C1266045 semapv:UnspecifiedMatching DOID:6405 ovarian papillary cystadenoma oboInOwl:hasDbXref NCI:C7278 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref GARD:1908 semapv:UnspecifiedMatching +DOID:6405 ovarian papillary cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1335175 semapv:UnspecifiedMatching +DOID:6406 double outlet right ventricle oboInOwl:hasDbXref UMLS_CUI:C0013069 semapv:UnspecifiedMatching +DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ORDO:3426 semapv:UnspecifiedMatching +DOID:6406 double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching +DOID:6406 double outlet right ventricle oboInOwl:hasDbXref NCI:C98916 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ICD10CM:Q20.1 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ICD9CM:745.11 semapv:UnspecifiedMatching +DOID:6406 double outlet right ventricle oboInOwl:hasDbXref GARD:1908 semapv:UnspecifiedMatching DOID:6406 double outlet right ventricle oboInOwl:hasDbXref MESH:D004310 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref NCI:C98916 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref ORDO:3426 semapv:UnspecifiedMatching -DOID:6406 double outlet right ventricle oboInOwl:hasDbXref UMLS_CUI:C0013069 semapv:UnspecifiedMatching DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref NCI:C7279 semapv:UnspecifiedMatching DOID:6407 ovarian surface papilloma oboInOwl:hasDbXref UMLS_CUI:C1335183 semapv:UnspecifiedMatching -DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref NCI:C6256 semapv:UnspecifiedMatching DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335178 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref UMLS_CUI:C0039685 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref NCI:C84505 semapv:UnspecifiedMatching +DOID:6408 ovary papillary carcinoma oboInOwl:hasDbXref NCI:C6256 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref GARD:2245 semapv:UnspecifiedMatching -DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD9CM:745.2 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD10CM:Q21.3 semapv:UnspecifiedMatching +DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref ICD9CM:745.2 semapv:UnspecifiedMatching DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref MESH:D013771 semapv:UnspecifiedMatching +DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref NCI:C84505 semapv:UnspecifiedMatching +DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref OMIM:187500 semapv:UnspecifiedMatching +DOID:6419 tetralogy of Fallot oboInOwl:hasDbXref UMLS_CUI:C0039685 semapv:UnspecifiedMatching +DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0034089 semapv:UnspecifiedMatching +DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref GARD:4596 semapv:UnspecifiedMatching DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref MESH:D011666 semapv:UnspecifiedMatching -DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref OMIM:265500 semapv:UnspecifiedMatching -DOID:6420 pulmonary valve stenosis oboInOwl:hasDbXref UMLS_CUI:C0034089 semapv:UnspecifiedMatching DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref NCI:C27404 semapv:UnspecifiedMatching DOID:6423 childhood central nervous system mature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332955 semapv:UnspecifiedMatching -DOID:6425 eyelid carcinoma oboInOwl:hasDbXref NCI:C6078 semapv:UnspecifiedMatching DOID:6425 eyelid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0920196 semapv:UnspecifiedMatching -DOID:6428 cervical adenoid basal carcinoma oboInOwl:hasDbXref NCI:C40213 semapv:UnspecifiedMatching +DOID:6425 eyelid carcinoma oboInOwl:hasDbXref NCI:C6078 semapv:UnspecifiedMatching DOID:6428 cervical adenoid basal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516403 semapv:UnspecifiedMatching -DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS_CUI:C0023524 semapv:UnspecifiedMatching -DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref NCI:C26815 semapv:UnspecifiedMatching -DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching +DOID:6428 cervical adenoid basal carcinoma oboInOwl:hasDbXref NCI:C40213 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref GARD:7468 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10CM:A81.2 semapv:UnspecifiedMatching DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD9CM:046.3 semapv:UnspecifiedMatching +DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching +DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref NCI:C26815 semapv:UnspecifiedMatching +DOID:643 progressive multifocal leukoencephalopathy oboInOwl:hasDbXref UMLS_CUI:C0023524 semapv:UnspecifiedMatching DOID:6432 pulmonary hypertension oboInOwl:hasDbXref ICD10CM:I27.20 semapv:UnspecifiedMatching DOID:6432 pulmonary hypertension oboInOwl:hasDbXref MESH:D006976 semapv:UnspecifiedMatching DOID:6432 pulmonary hypertension oboInOwl:hasDbXref NCI:C3120 semapv:UnspecifiedMatching @@ -27787,8 +27813,8 @@ DOID:6438 malignant choroid melanoma oboInOwl:hasDbXref UMLS_CUI:C0346388 semapv DOID:6445 ovarian endometrioid malignant adenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518711 semapv:UnspecifiedMatching DOID:6445 ovarian endometrioid malignant adenofibroma oboInOwl:hasDbXref NCI:C40060 semapv:UnspecifiedMatching DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0334353 semapv:UnspecifiedMatching -DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref NCI:C4176 semapv:UnspecifiedMatching DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref ICDO:8420/3 semapv:UnspecifiedMatching +DOID:6446 ceruminous adenocarcinoma oboInOwl:hasDbXref NCI:C4176 semapv:UnspecifiedMatching DOID:6448 vulvar apocrine adenocarcinoma oboInOwl:hasDbXref NCI:C40308 semapv:UnspecifiedMatching DOID:6451 central nervous system fibrosarcoma oboInOwl:hasDbXref NCI:C5465 semapv:UnspecifiedMatching DOID:6451 central nervous system fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332879 semapv:UnspecifiedMatching @@ -27831,8 +27857,8 @@ DOID:6481 bladder signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C6163 s DOID:6481 bladder signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332563 semapv:UnspecifiedMatching DOID:6482 lung acinar adenocarcinoma oboInOwl:hasDbXref NCI:C5649 semapv:UnspecifiedMatching DOID:6482 lung acinar adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332137 semapv:UnspecifiedMatching -DOID:6483 rete testis adenoma oboInOwl:hasDbXref NCI:C39956 semapv:UnspecifiedMatching DOID:6483 rete testis adenoma oboInOwl:hasDbXref UMLS_CUI:C1514910 semapv:UnspecifiedMatching +DOID:6483 rete testis adenoma oboInOwl:hasDbXref NCI:C39956 semapv:UnspecifiedMatching DOID:6484 mediastinal melanocytic neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1334668 semapv:UnspecifiedMatching DOID:6484 mediastinal melanocytic neurilemmoma oboInOwl:hasDbXref NCI:C6635 semapv:UnspecifiedMatching DOID:6489 periosteal osteogenic sarcoma oboInOwl:hasDbXref NCI:C8970 semapv:UnspecifiedMatching @@ -27851,9 +27877,9 @@ DOID:6494 childhood myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332984 s DOID:6498 seborrheic keratosis oboInOwl:hasDbXref OMIM:182000 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C0022603 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref NCI:C9006 semapv:UnspecifiedMatching +DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD9CM:702.1 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref MESH:D017492 semapv:UnspecifiedMatching -DOID:6498 seborrheic keratosis oboInOwl:hasDbXref ICD10CM:L82 semapv:UnspecifiedMatching DOID:6498 seborrheic keratosis oboInOwl:hasDbXref GARD:3108 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref MESH:D003240 semapv:UnspecifiedMatching DOID:65 connective tissue disease oboInOwl:hasDbXref NCI:C26729 semapv:UnspecifiedMatching @@ -27880,8 +27906,8 @@ DOID:6522 mixed cell uveal melanoma oboInOwl:hasDbXref NCI:C35781 semapv:Unspeci DOID:6522 mixed cell uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C1334782 semapv:UnspecifiedMatching DOID:6523 ciliary body mixed cell melanoma oboInOwl:hasDbXref NCI:C35783 semapv:UnspecifiedMatching DOID:6523 ciliary body mixed cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333051 semapv:UnspecifiedMatching -DOID:6524 malignant ciliary body melanoma oboInOwl:hasDbXref NCI:C4558 semapv:UnspecifiedMatching DOID:6524 malignant ciliary body melanoma oboInOwl:hasDbXref UMLS_CUI:C0346379 semapv:UnspecifiedMatching +DOID:6524 malignant ciliary body melanoma oboInOwl:hasDbXref NCI:C4558 semapv:UnspecifiedMatching DOID:6525 choroid mixed cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333025 semapv:UnspecifiedMatching DOID:6525 choroid mixed cell melanoma oboInOwl:hasDbXref NCI:C35782 semapv:UnspecifiedMatching DOID:653 purine-pyrimidine metabolic disorder oboInOwl:hasDbXref ICD10CM:E79.8 semapv:UnspecifiedMatching @@ -27896,11 +27922,11 @@ DOID:654 overnutrition oboInOwl:hasDbXref MESH:D044343 semapv:UnspecifiedMatchin DOID:654 overnutrition oboInOwl:hasDbXref UMLS_CUI:C1257763 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref UMLS_CUI:C0702166 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref UMLS_CUI:C0152249 semapv:UnspecifiedMatching -DOID:6543 acne oboInOwl:hasDbXref OMIM:604324 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref MESH:D000152 semapv:UnspecifiedMatching -DOID:6543 acne oboInOwl:hasDbXref ICD9CM:706.0 semapv:UnspecifiedMatching +DOID:6543 acne oboInOwl:hasDbXref OMIM:604324 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD10CM:L70.2 semapv:UnspecifiedMatching DOID:6543 acne oboInOwl:hasDbXref ICD10CM:L70 semapv:UnspecifiedMatching +DOID:6543 acne oboInOwl:hasDbXref ICD9CM:706.0 semapv:UnspecifiedMatching DOID:6547 heart lymphoma oboInOwl:hasDbXref NCI:C5368 semapv:UnspecifiedMatching DOID:6547 heart lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332850 semapv:UnspecifiedMatching DOID:6548 angiomatous meningioma oboInOwl:hasDbXref ICDO:9534/0 semapv:UnspecifiedMatching @@ -27922,33 +27948,33 @@ DOID:6562 ethmoid sinus inverted papilloma oboInOwl:hasDbXref NCI:C6843 semapv:U DOID:6562 ethmoid sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1333474 semapv:UnspecifiedMatching DOID:6564 neurilemmoma of the pleura oboInOwl:hasDbXref NCI:C5418 semapv:UnspecifiedMatching DOID:6564 neurilemmoma of the pleura oboInOwl:hasDbXref UMLS_CUI:C1335435 semapv:UnspecifiedMatching -DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref NCI:C9089 semapv:UnspecifiedMatching -DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref NCI:C9090 semapv:UnspecifiedMatching -DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0278867 semapv:UnspecifiedMatching DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0278868 semapv:UnspecifiedMatching +DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0278867 semapv:UnspecifiedMatching +DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref NCI:C9090 semapv:UnspecifiedMatching +DOID:6566 posterior uveal melanoma oboInOwl:hasDbXref NCI:C9089 semapv:UnspecifiedMatching DOID:6567 uterine corpus myxoid leiomyosarcoma oboInOwl:hasDbXref NCI:C40175 semapv:UnspecifiedMatching DOID:6567 uterine corpus myxoid leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1519861 semapv:UnspecifiedMatching -DOID:6569 micropapillomatosis labialis oboInOwl:hasDbXref UMLS_CUI:C1519982 semapv:UnspecifiedMatching DOID:6569 micropapillomatosis labialis oboInOwl:hasDbXref NCI:C40290 semapv:UnspecifiedMatching +DOID:6569 micropapillomatosis labialis oboInOwl:hasDbXref UMLS_CUI:C1519982 semapv:UnspecifiedMatching +DOID:657 adenoma skos:exactMatch MESH:D000236 semapv:UnspecifiedMatching +DOID:657 adenoma oboInOwl:hasDbXref UMLS_CUI:C0334389 semapv:UnspecifiedMatching +DOID:657 adenoma oboInOwl:hasDbXref UMLS_CUI:C0001430 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref ICDO:8140/0 semapv:UnspecifiedMatching -DOID:657 adenoma oboInOwl:hasDbXref MESH:D000236 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref NCI:C2855 semapv:UnspecifiedMatching +DOID:657 adenoma oboInOwl:hasDbXref MESH:D000236 semapv:UnspecifiedMatching DOID:657 adenoma oboInOwl:hasDbXref NCI:C4196 semapv:UnspecifiedMatching -DOID:657 adenoma oboInOwl:hasDbXref UMLS_CUI:C0001430 semapv:UnspecifiedMatching -DOID:657 adenoma oboInOwl:hasDbXref UMLS_CUI:C0334389 semapv:UnspecifiedMatching -DOID:657 adenoma skos:exactMatch MESH:D000236 semapv:UnspecifiedMatching DOID:6575 childhood optic tract astrocytoma oboInOwl:hasDbXref NCI:C7534 semapv:UnspecifiedMatching DOID:6575 childhood optic tract astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1333014 semapv:UnspecifiedMatching DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref MESH:D020339 semapv:UnspecifiedMatching DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref NCI:C7535 semapv:UnspecifiedMatching DOID:6576 childhood optic nerve glioma oboInOwl:hasDbXref UMLS_CUI:C0278653 semapv:UnspecifiedMatching -DOID:6579 chest wall bone cancer oboInOwl:hasDbXref UMLS_CUI:C1334572 semapv:UnspecifiedMatching DOID:6579 chest wall bone cancer oboInOwl:hasDbXref NCI:C6724 semapv:UnspecifiedMatching +DOID:6579 chest wall bone cancer oboInOwl:hasDbXref UMLS_CUI:C1334572 semapv:UnspecifiedMatching DOID:6581 breast apocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332316 semapv:UnspecifiedMatching DOID:6581 breast apocrine carcinoma oboInOwl:hasDbXref NCI:C5141 semapv:UnspecifiedMatching +DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518574 semapv:UnspecifiedMatching DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref ICDO:8290/3 semapv:UnspecifiedMatching DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref NCI:C40366 semapv:UnspecifiedMatching -DOID:6585 breast oncocytic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518574 semapv:UnspecifiedMatching DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref ICDO:8211/3 semapv:UnspecifiedMatching DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref NCI:C9135 semapv:UnspecifiedMatching DOID:6587 breast tubular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1328544 semapv:UnspecifiedMatching @@ -27958,26 +27984,26 @@ DOID:6590 spondylitis oboInOwl:hasDbXref UMLS_CUI:C0029644 semapv:UnspecifiedMat DOID:6590 spondylitis skos:exactMatch MESH:D013166 semapv:UnspecifiedMatching DOID:6594 bladder colonic type adenocarcinoma oboInOwl:hasDbXref NCI:C39835 semapv:UnspecifiedMatching DOID:6594 bladder colonic type adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511188 semapv:UnspecifiedMatching -DOID:6595 gastric tubular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333791 semapv:UnspecifiedMatching DOID:6595 gastric tubular adenocarcinoma oboInOwl:hasDbXref NCI:C5473 semapv:UnspecifiedMatching -DOID:660 adrenal cortex cancer oboInOwl:hasDbXref ICD10CM:C74.0 semapv:UnspecifiedMatching -DOID:660 adrenal cortex cancer oboInOwl:hasDbXref MESH:D000306 semapv:UnspecifiedMatching +DOID:6595 gastric tubular adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333791 semapv:UnspecifiedMatching DOID:660 adrenal cortex cancer oboInOwl:hasDbXref NCI:C2858 semapv:UnspecifiedMatching -DOID:660 adrenal cortex cancer oboInOwl:hasDbXref NCI:C9327 semapv:UnspecifiedMatching -DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS_CUI:C0001618 semapv:UnspecifiedMatching DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS_CUI:C0346402 semapv:UnspecifiedMatching +DOID:660 adrenal cortex cancer oboInOwl:hasDbXref UMLS_CUI:C0001618 semapv:UnspecifiedMatching +DOID:660 adrenal cortex cancer oboInOwl:hasDbXref MESH:D000306 semapv:UnspecifiedMatching +DOID:660 adrenal cortex cancer oboInOwl:hasDbXref ICD10CM:C74.0 semapv:UnspecifiedMatching +DOID:660 adrenal cortex cancer oboInOwl:hasDbXref NCI:C9327 semapv:UnspecifiedMatching DOID:6603 Kummell's disease oboInOwl:hasDbXref ICD10CM:M48.3 semapv:UnspecifiedMatching DOID:6603 Kummell's disease oboInOwl:hasDbXref ICD9CM:721.7 semapv:UnspecifiedMatching DOID:6603 Kummell's disease oboInOwl:hasDbXref UMLS_CUI:C0152088 semapv:UnspecifiedMatching DOID:6605 classic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C27888 semapv:UnspecifiedMatching DOID:6605 classic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333062 semapv:UnspecifiedMatching -DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333405 semapv:UnspecifiedMatching DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref NCI:C27889 semapv:UnspecifiedMatching +DOID:6606 eosinophilic variant of chromophobe renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333405 semapv:UnspecifiedMatching DOID:6607 nervous system hibernoma oboInOwl:hasDbXref NCI:C6997 semapv:UnspecifiedMatching -DOID:6608 endobronchial leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333386 semapv:UnspecifiedMatching DOID:6608 endobronchial leiomyoma oboInOwl:hasDbXref NCI:C5661 semapv:UnspecifiedMatching -DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332575 semapv:UnspecifiedMatching +DOID:6608 endobronchial leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333386 semapv:UnspecifiedMatching DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332578 semapv:UnspecifiedMatching +DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref UMLS_CUI:C1332575 semapv:UnspecifiedMatching DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref NCI:C5396 semapv:UnspecifiedMatching DOID:6610 bone epithelioid hemangioma oboInOwl:hasDbXref NCI:C6477 semapv:UnspecifiedMatching DOID:6612 leukocyte adhesion deficiency oboInOwl:hasDbXref GARD:9544 semapv:UnspecifiedMatching @@ -27992,10 +28018,10 @@ DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref NCI:C3990 semapv:Unspec DOID:6620 X-linked hyper IgM syndrome oboInOwl:hasDbXref UMLS_CUI:C0272236 semapv:UnspecifiedMatching DOID:6621 cerebral angioma oboInOwl:hasDbXref NCI:C5433 semapv:UnspecifiedMatching DOID:6621 cerebral angioma oboInOwl:hasDbXref UMLS_CUI:C0877388 semapv:UnspecifiedMatching -DOID:6627 cervical adenoma malignum oboInOwl:hasDbXref NCI:C40206 semapv:UnspecifiedMatching DOID:6627 cervical adenoma malignum oboInOwl:hasDbXref UMLS_CUI:C1516423 semapv:UnspecifiedMatching -DOID:6629 nipple carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334966 semapv:UnspecifiedMatching +DOID:6627 cervical adenoma malignum oboInOwl:hasDbXref NCI:C40206 semapv:UnspecifiedMatching DOID:6629 nipple carcinoma oboInOwl:hasDbXref NCI:C28432 semapv:UnspecifiedMatching +DOID:6629 nipple carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334966 semapv:UnspecifiedMatching DOID:663 scrotal angioma oboInOwl:hasDbXref NCI:C6387 semapv:UnspecifiedMatching DOID:663 scrotal angioma oboInOwl:hasDbXref UMLS_CUI:C1335936 semapv:UnspecifiedMatching DOID:6634 adult central nervous system choriocarcinoma oboInOwl:hasDbXref NCI:C5793 semapv:UnspecifiedMatching @@ -28006,25 +28032,25 @@ DOID:664 angiokeratoma of Fordyce oboInOwl:hasDbXref NCI:C7752 semapv:Unspecifie DOID:664 angiokeratoma of Fordyce oboInOwl:hasDbXref UMLS_CUI:C0263639 semapv:UnspecifiedMatching DOID:6641 breast juvenile papillomatosis oboInOwl:hasDbXref NCI:C9503 semapv:UnspecifiedMatching DOID:6641 breast juvenile papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334303 semapv:UnspecifiedMatching -DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref ICD10CM:M48.2 semapv:UnspecifiedMatching DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref ICD9CM:721.5 semapv:UnspecifiedMatching +DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref ICD10CM:M48.2 semapv:UnspecifiedMatching DOID:6643 Baastrup's syndrome oboInOwl:hasDbXref UMLS_CUI:C0158248 semapv:UnspecifiedMatching DOID:6648 adult pineoblastoma oboInOwl:hasDbXref UMLS_CUI:C0281332 semapv:UnspecifiedMatching DOID:6648 adult pineoblastoma oboInOwl:hasDbXref NCI:C8292 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref UMLS_CUI:C0020498 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref NCI:C84671 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref GARD:6460 semapv:UnspecifiedMatching -DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD9CM:721.6 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD10CM:M48.1 semapv:UnspecifiedMatching +DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref ICD9CM:721.6 semapv:UnspecifiedMatching DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref MESH:D004057 semapv:UnspecifiedMatching +DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref NCI:C84671 semapv:UnspecifiedMatching +DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref OMIM:106400 semapv:UnspecifiedMatching +DOID:6652 diffuse idiopathic skeletal hyperostosis oboInOwl:hasDbXref UMLS_CUI:C0020498 semapv:UnspecifiedMatching DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref UMLS_CUI:C1332954 semapv:UnspecifiedMatching DOID:6654 childhood central nervous system immature teratoma oboInOwl:hasDbXref NCI:C27405 semapv:UnspecifiedMatching DOID:6657 breast large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C40356 semapv:UnspecifiedMatching DOID:6657 breast large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511316 semapv:UnspecifiedMatching -DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334363 semapv:UnspecifiedMatching DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C5672 semapv:UnspecifiedMatching DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C6875 semapv:UnspecifiedMatching +DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334363 semapv:UnspecifiedMatching DOID:6658 pulmonary large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1265996 semapv:UnspecifiedMatching DOID:6659 cervical large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516417 semapv:UnspecifiedMatching DOID:6659 cervical large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C40214 semapv:UnspecifiedMatching @@ -28039,23 +28065,23 @@ DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref MESH:C536736 semapv:Unspeci DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref NCI:C40553 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref OMIM:189500 semapv:UnspecifiedMatching DOID:6678 tooth and nail syndrome oboInOwl:hasDbXref UMLS_CUI:C0406735 semapv:UnspecifiedMatching +DOID:668 myositis ossificans oboInOwl:hasDbXref UMLS_CUI:C0027122 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref MESH:D009221 semapv:UnspecifiedMatching DOID:668 myositis ossificans oboInOwl:hasDbXref NCI:C3253 semapv:UnspecifiedMatching -DOID:668 myositis ossificans oboInOwl:hasDbXref UMLS_CUI:C0027122 semapv:UnspecifiedMatching DOID:6680 Capgras syndrome oboInOwl:hasDbXref UMLS_CUI:C0006895 semapv:UnspecifiedMatching -DOID:6680 Capgras syndrome oboInOwl:hasDbXref MESH:D002194 semapv:UnspecifiedMatching DOID:6680 Capgras syndrome oboInOwl:hasDbXref NCI:C34446 semapv:UnspecifiedMatching +DOID:6680 Capgras syndrome oboInOwl:hasDbXref MESH:D002194 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref ICD10CM:M43.1 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref MESH:D013168 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref NCI:C35033 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref OMIM:184200 semapv:UnspecifiedMatching DOID:6682 spondylolisthesis oboInOwl:hasDbXref UMLS_CUI:C0038016 semapv:UnspecifiedMatching +DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref UMLS_CUI:C0175701 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref GARD:4775 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref ICD10CM:Q87.19 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref MESH:C535331 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref NCI:C129720 semapv:UnspecifiedMatching DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref OMIM:305400 semapv:UnspecifiedMatching -DOID:6683 X-linked Aarskog syndrome oboInOwl:hasDbXref UMLS_CUI:C0175701 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref UMLS_CUI:C1332135 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref NCI:C35809 semapv:UnspecifiedMatching DOID:6686 Achard syndrome oboInOwl:hasDbXref OMIM:100700 semapv:UnspecifiedMatching @@ -28063,21 +28089,21 @@ DOID:6686 Achard syndrome oboInOwl:hasDbXref GARD:8176 semapv:UnspecifiedMatchin DOID:6686 Achard syndrome oboInOwl:hasDbXref MESH:C536012 semapv:UnspecifiedMatching DOID:6687 Achenbach syndrome oboInOwl:hasDbXref NCI:C35467 semapv:UnspecifiedMatching DOID:6687 Achenbach syndrome oboInOwl:hasDbXref UMLS_CUI:C0473563 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref GARD:8686 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10CM:D89.82 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD9CM:279.41 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D056735 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref NCI:C37864 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 semapv:UnspecifiedMatching -DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:3261 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS_CUI:C1328840 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ORDO:3261 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref NCI:C37864 semapv:UnspecifiedMatching DOID:6688 autoimmune lymphoproliferative syndrome skos:exactMatch MESH:D056735 semapv:UnspecifiedMatching -DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref ORDO:1414 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD9CM:279.41 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref ICD10CM:D89.82 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref GARD:8686 semapv:UnspecifiedMatching +DOID:6688 autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D056735 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref UMLS_CUI:C0268314 semapv:UnspecifiedMatching +DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref ORDO:1414 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching -DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref NCI:C35709 semapv:UnspecifiedMatching -DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref MESH:C535330 semapv:UnspecifiedMatching DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref GARD:370 semapv:UnspecifiedMatching +DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref MESH:C535330 semapv:UnspecifiedMatching +DOID:6691 Aagenaes syndrome oboInOwl:hasDbXref NCI:C35709 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref ICD10CM:M53.0 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref MESH:D055010 semapv:UnspecifiedMatching DOID:6692 Barre-Lieou syndrome oboInOwl:hasDbXref NCI:C34411 semapv:UnspecifiedMatching @@ -28086,12 +28112,12 @@ DOID:6693 testicular monophasic choriocarcinoma oboInOwl:hasDbXref NCI:C39935 se DOID:6693 testicular monophasic choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515290 semapv:UnspecifiedMatching DOID:6696 synchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6471 semapv:UnspecifiedMatching DOID:6696 synchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1336544 semapv:UnspecifiedMatching -DOID:6697 asynchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6472 semapv:UnspecifiedMatching DOID:6697 asynchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332342 semapv:UnspecifiedMatching +DOID:6697 asynchronous multifocal osteogenic sarcoma oboInOwl:hasDbXref NCI:C6472 semapv:UnspecifiedMatching DOID:670 amphetamine abuse oboInOwl:hasDbXref ICD9CM:305.7 semapv:UnspecifiedMatching DOID:670 amphetamine abuse oboInOwl:hasDbXref UMLS_CUI:C0154536 semapv:UnspecifiedMatching -DOID:6700 gastric fundus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345799 semapv:UnspecifiedMatching DOID:6700 gastric fundus carcinoma oboInOwl:hasDbXref NCI:C8398 semapv:UnspecifiedMatching +DOID:6700 gastric fundus carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345799 semapv:UnspecifiedMatching DOID:6703 gastric pylorus carcinoma oboInOwl:hasDbXref NCI:C6795 semapv:UnspecifiedMatching DOID:6703 gastric pylorus carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333787 semapv:UnspecifiedMatching DOID:6705 gastric body carcinoma oboInOwl:hasDbXref NCI:C8399 semapv:UnspecifiedMatching @@ -28100,16 +28126,16 @@ DOID:6706 tubular variant testicular seminoma oboInOwl:hasDbXref NCI:C40959 sema DOID:6706 tubular variant testicular seminoma oboInOwl:hasDbXref UMLS_CUI:C1515294 semapv:UnspecifiedMatching DOID:6707 malignant triton tumor oboInOwl:hasDbXref NCI:C4335 semapv:UnspecifiedMatching DOID:6707 malignant triton tumor oboInOwl:hasDbXref UMLS_CUI:C0334616 semapv:UnspecifiedMatching -DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref GARD:9653 semapv:UnspecifiedMatching -DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref ICD10CM:G83.82 semapv:UnspecifiedMatching -DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref MESH:D020759 semapv:UnspecifiedMatching DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref UMLS_CUI:C0221069 semapv:UnspecifiedMatching +DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref MESH:D020759 semapv:UnspecifiedMatching DOID:6712 anterior spinal artery syndrome skos:exactMatch MESH:D020759 semapv:UnspecifiedMatching +DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref GARD:9653 semapv:UnspecifiedMatching +DOID:6712 anterior spinal artery syndrome oboInOwl:hasDbXref ICD10CM:G83.82 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref UMLS_CUI:C0007820 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref NCI:C2938 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref MESH:D002561 semapv:UnspecifiedMatching -DOID:6713 cerebrovascular disease oboInOwl:hasDbXref ICD10CM:I67.9 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref EFO:0000712 semapv:UnspecifiedMatching +DOID:6713 cerebrovascular disease oboInOwl:hasDbXref ICD10CM:I67.9 semapv:UnspecifiedMatching DOID:6713 cerebrovascular disease oboInOwl:hasDbXref ICD9CM:437.9 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref GARD:7683 semapv:UnspecifiedMatching DOID:672 spleen cancer oboInOwl:hasDbXref ICD10CM:C26.1 semapv:UnspecifiedMatching @@ -28127,18 +28153,18 @@ DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS_CUI:C0158280 semapv:Unspecifie DOID:6725 spinal stenosis oboInOwl:hasDbXref UMLS_CUI:C0037944 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref NCI:C177445 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref NCI:C177444 semapv:UnspecifiedMatching -DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.061 semapv:UnspecifiedMatching -DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD9CM:724.00 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD9CM:723.0 semapv:UnspecifiedMatching +DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD9CM:724.00 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.02 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.0 semapv:UnspecifiedMatching DOID:6725 spinal stenosis oboInOwl:hasDbXref MESH:D013130 semapv:UnspecifiedMatching +DOID:6725 spinal stenosis oboInOwl:hasDbXref ICD10CM:M48.061 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref ICDO:9420/3 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref NCI:C4322 semapv:UnspecifiedMatching DOID:6726 fibrillary astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334582 semapv:UnspecifiedMatching -DOID:6727 colon small cell carcinoma oboInOwl:hasDbXref NCI:C6761 semapv:UnspecifiedMatching DOID:6727 colon small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333099 semapv:UnspecifiedMatching +DOID:6727 colon small cell carcinoma oboInOwl:hasDbXref NCI:C6761 semapv:UnspecifiedMatching DOID:6733 intrahepatic bile duct cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1334257 semapv:UnspecifiedMatching DOID:6733 intrahepatic bile duct cystadenoma oboInOwl:hasDbXref NCI:C96835 semapv:UnspecifiedMatching DOID:6735 schwannoma of jugular foramen oboInOwl:hasDbXref NCI:C5323 semapv:UnspecifiedMatching @@ -28153,10 +28179,10 @@ DOID:6740 cervix small cell carcinoma oboInOwl:hasDbXref NCI:C7982 semapv:Unspec DOID:6740 cervix small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279674 semapv:UnspecifiedMatching DOID:6741 bilateral breast cancer oboInOwl:hasDbXref NCI:C8287 semapv:UnspecifiedMatching DOID:6741 bilateral breast cancer oboInOwl:hasDbXref UMLS_CUI:C0281267 semapv:UnspecifiedMatching -DOID:6742 synchronous bilateral breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1515107 semapv:UnspecifiedMatching DOID:6742 synchronous bilateral breast carcinoma oboInOwl:hasDbXref NCI:C40370 semapv:UnspecifiedMatching -DOID:6752 internal auditory canal lipoma oboInOwl:hasDbXref NCI:C5452 semapv:UnspecifiedMatching +DOID:6742 synchronous bilateral breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1515107 semapv:UnspecifiedMatching DOID:6752 internal auditory canal lipoma oboInOwl:hasDbXref UMLS_CUI:C1334226 semapv:UnspecifiedMatching +DOID:6752 internal auditory canal lipoma oboInOwl:hasDbXref NCI:C5452 semapv:UnspecifiedMatching DOID:6755 amyloid tumor oboInOwl:hasDbXref UMLS_CUI:C0333572 semapv:UnspecifiedMatching DOID:6758 chest wall lymphoma oboInOwl:hasDbXref NCI:C4580 semapv:UnspecifiedMatching DOID:6758 chest wall lymphoma oboInOwl:hasDbXref NCI:C6712 semapv:UnspecifiedMatching @@ -28164,11 +28190,11 @@ DOID:6758 chest wall lymphoma oboInOwl:hasDbXref UMLS_CUI:C0346948 semapv:Unspec DOID:6758 chest wall lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332933 semapv:UnspecifiedMatching DOID:6759 bone lymphoma oboInOwl:hasDbXref NCI:C6620 semapv:UnspecifiedMatching DOID:6759 bone lymphoma oboInOwl:hasDbXref UMLS_CUI:C1332582 semapv:UnspecifiedMatching -DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0157918 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0157917 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0157916 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ORDO:92 semapv:UnspecifiedMatching +DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref OMIM:604302 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0409667 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref NCI:C61279 semapv:UnspecifiedMatching DOID:676 juvenile rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.33 semapv:UnspecifiedMatching @@ -28199,10 +28225,10 @@ DOID:678 progressive supranuclear palsy oboInOwl:hasDbXref UMLS_CUI:C0038868 sem DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref GARD:6265 semapv:UnspecifiedMatching DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref ICDO:8806/3 semapv:UnspecifiedMatching DOID:6785 desmoplastic small round cell tumor oboInOwl:hasDbXref NCI:C8300 semapv:UnspecifiedMatching -DOID:6786 childhood botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C35574 semapv:UnspecifiedMatching DOID:6786 childhood botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332944 semapv:UnspecifiedMatching -DOID:6787 childhood vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332945 semapv:UnspecifiedMatching +DOID:6786 childhood botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C35574 semapv:UnspecifiedMatching DOID:6787 childhood vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C35556 semapv:UnspecifiedMatching +DOID:6787 childhood vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332945 semapv:UnspecifiedMatching DOID:6788 vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C40268 semapv:UnspecifiedMatching DOID:6788 vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1511275 semapv:UnspecifiedMatching DOID:6789 vulvar childhood botryoid-type embryonal rhabdomyosarcoma oboInOwl:hasDbXref NCI:C36098 semapv:UnspecifiedMatching @@ -28211,8 +28237,8 @@ DOID:679 basal ganglia disease oboInOwl:hasDbXref MESH:D001480 semapv:Unspecifie DOID:679 basal ganglia disease oboInOwl:hasDbXref UMLS_CUI:C0004782 semapv:UnspecifiedMatching DOID:680 tauopathy oboInOwl:hasDbXref MESH:D024801 semapv:UnspecifiedMatching DOID:680 tauopathy oboInOwl:hasDbXref UMLS_CUI:C0949664 semapv:UnspecifiedMatching -DOID:6804 colon Kaposi sarcoma oboInOwl:hasDbXref NCI:C5516 semapv:UnspecifiedMatching DOID:6804 colon Kaposi sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333091 semapv:UnspecifiedMatching +DOID:6804 colon Kaposi sarcoma oboInOwl:hasDbXref NCI:C5516 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref UMLS_CUI:C0030442 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref NCI:C85026 semapv:UnspecifiedMatching DOID:681 progressive bulbar palsy oboInOwl:hasDbXref MESH:D010244 semapv:UnspecifiedMatching @@ -28224,32 +28250,32 @@ DOID:6811 juvenile pilocytic astrocytoma oboInOwl:hasDbXref NCI:C27081 semapv:Un DOID:6811 juvenile pilocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280783 semapv:UnspecifiedMatching DOID:6812 childhood pilocytic astrocytoma oboInOwl:hasDbXref NCI:C4048 semapv:UnspecifiedMatching DOID:6812 childhood pilocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C1332995 semapv:UnspecifiedMatching -DOID:682 compartment syndrome oboInOwl:hasDbXref UMLS_CUI:C0009492 semapv:UnspecifiedMatching -DOID:682 compartment syndrome oboInOwl:hasDbXref GARD:6141 semapv:UnspecifiedMatching -DOID:682 compartment syndrome oboInOwl:hasDbXref ICD10CM:T79.A0 semapv:UnspecifiedMatching -DOID:682 compartment syndrome oboInOwl:hasDbXref ICD9CM:958.90 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref MESH:D003161 semapv:UnspecifiedMatching +DOID:682 compartment syndrome oboInOwl:hasDbXref ICD9CM:958.90 semapv:UnspecifiedMatching DOID:682 compartment syndrome oboInOwl:hasDbXref NCI:C118422 semapv:UnspecifiedMatching -DOID:6823 pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching +DOID:682 compartment syndrome oboInOwl:hasDbXref GARD:6141 semapv:UnspecifiedMatching +DOID:682 compartment syndrome oboInOwl:hasDbXref ICD10CM:T79.A0 semapv:UnspecifiedMatching +DOID:682 compartment syndrome oboInOwl:hasDbXref UMLS_CUI:C0009492 semapv:UnspecifiedMatching +DOID:6823 pancreatoblastoma oboInOwl:hasDbXref UMLS_CUI:C0334489 semapv:UnspecifiedMatching DOID:6823 pancreatoblastoma oboInOwl:hasDbXref NCI:C4265 semapv:UnspecifiedMatching -DOID:6823 pancreatoblastoma oboInOwl:hasDbXref GARD:4210 semapv:UnspecifiedMatching +DOID:6823 pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching DOID:6823 pancreatoblastoma oboInOwl:hasDbXref ICDO:8971/3 semapv:UnspecifiedMatching -DOID:6823 pancreatoblastoma oboInOwl:hasDbXref UMLS_CUI:C0334489 semapv:UnspecifiedMatching -DOID:6827 pancreatic solid pseudopapillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336029 semapv:UnspecifiedMatching +DOID:6823 pancreatoblastoma oboInOwl:hasDbXref GARD:4210 semapv:UnspecifiedMatching DOID:6827 pancreatic solid pseudopapillary carcinoma oboInOwl:hasDbXref NCI:C5728 semapv:UnspecifiedMatching +DOID:6827 pancreatic solid pseudopapillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336029 semapv:UnspecifiedMatching DOID:683 motor neuritis oboInOwl:hasDbXref MESH:D009443 semapv:UnspecifiedMatching DOID:683 motor neuritis oboInOwl:hasDbXref NCI:C3500 semapv:UnspecifiedMatching DOID:683 motor neuritis oboInOwl:hasDbXref UMLS_CUI:C0235025 semapv:UnspecifiedMatching -DOID:6837 rete ovarii adenoma oboInOwl:hasDbXref NCI:C40018 semapv:UnspecifiedMatching DOID:6837 rete ovarii adenoma oboInOwl:hasDbXref UMLS_CUI:C1514905 semapv:UnspecifiedMatching +DOID:6837 rete ovarii adenoma oboInOwl:hasDbXref NCI:C40018 semapv:UnspecifiedMatching DOID:6838 rete ovarii cystadenofibroma oboInOwl:hasDbXref NCI:C40020 semapv:UnspecifiedMatching DOID:6838 rete ovarii cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1514906 semapv:UnspecifiedMatching DOID:6839 breast intraductal proliferative lesion oboInOwl:hasDbXref NCI:C27942 semapv:UnspecifiedMatching DOID:6839 breast intraductal proliferative lesion oboInOwl:hasDbXref UMLS_CUI:C1334631 semapv:UnspecifiedMatching +DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C2239176 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ORDO:88673 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref NCI:C3099 semapv:UnspecifiedMatching -DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref OMIM:114550 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ICDO:8170/3 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref ICD10CM:C22.0 semapv:UnspecifiedMatching DOID:684 hepatocellular carcinoma oboInOwl:hasDbXref EFO:0000182 semapv:UnspecifiedMatching @@ -28258,16 +28284,16 @@ DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref NCI:C36086 semapv:Uns DOID:6841 flat ductal epithelial atypia oboInOwl:hasDbXref UMLS_CUI:C1333620 semapv:UnspecifiedMatching DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref NCI:C6186 semapv:UnspecifiedMatching DOID:6844 kidney pelvis sarcomatoid transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335752 semapv:UnspecifiedMatching -DOID:6845 infiltrating ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512750 semapv:UnspecifiedMatching DOID:6845 infiltrating ureter transitional cell carcinoma oboInOwl:hasDbXref NCI:C39879 semapv:UnspecifiedMatching +DOID:6845 infiltrating ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512750 semapv:UnspecifiedMatching DOID:6846 familial melanoma oboInOwl:hasDbXref NCI:C8498 semapv:UnspecifiedMatching DOID:6846 familial melanoma oboInOwl:hasDbXref UMLS_CUI:C1512419 semapv:UnspecifiedMatching -DOID:6847 adult botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C36099 semapv:UnspecifiedMatching DOID:6847 adult botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332185 semapv:UnspecifiedMatching -DOID:6848 adult vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C40267 semapv:UnspecifiedMatching +DOID:6847 adult botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C36099 semapv:UnspecifiedMatching DOID:6848 adult vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1515893 semapv:UnspecifiedMatching -DOID:6854 ethmoid sinus ectopic meningioma oboInOwl:hasDbXref UMLS_CUI:C1333475 semapv:UnspecifiedMatching +DOID:6848 adult vagina botryoid rhabdomyosarcoma oboInOwl:hasDbXref NCI:C40267 semapv:UnspecifiedMatching DOID:6854 ethmoid sinus ectopic meningioma oboInOwl:hasDbXref NCI:C5309 semapv:UnspecifiedMatching +DOID:6854 ethmoid sinus ectopic meningioma oboInOwl:hasDbXref UMLS_CUI:C1333475 semapv:UnspecifiedMatching DOID:6856 pineal region teratoma oboInOwl:hasDbXref NCI:C6753 semapv:UnspecifiedMatching DOID:6856 pineal region teratoma oboInOwl:hasDbXref UMLS_CUI:C1335419 semapv:UnspecifiedMatching DOID:6857 pineal region mature teratoma oboInOwl:hasDbXref NCI:C6754 semapv:UnspecifiedMatching @@ -28280,11 +28306,11 @@ DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref N DOID:6865 oxyphilic endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518768 semapv:UnspecifiedMatching DOID:6867 mediastinal gray zone lymphoma oboInOwl:hasDbXref NCI:C37870 semapv:UnspecifiedMatching DOID:6867 mediastinal gray zone lymphoma oboInOwl:hasDbXref UMLS_CUI:C1334657 semapv:UnspecifiedMatching -DOID:6868 mediastinal malignant lymphoma oboInOwl:hasDbXref NCI:C6633 semapv:UnspecifiedMatching DOID:6868 mediastinal malignant lymphoma oboInOwl:hasDbXref UMLS_CUI:C1334665 semapv:UnspecifiedMatching -DOID:6869 parasagittal meningioma oboInOwl:hasDbXref UMLS_CUI:C0751304 semapv:UnspecifiedMatching +DOID:6868 mediastinal malignant lymphoma oboInOwl:hasDbXref NCI:C6633 semapv:UnspecifiedMatching DOID:6869 parasagittal meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:6869 parasagittal meningioma oboInOwl:hasDbXref NCI:C4960 semapv:UnspecifiedMatching +DOID:6869 parasagittal meningioma oboInOwl:hasDbXref UMLS_CUI:C0751304 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref GARD:2657 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref ICD10CM:C22.2 semapv:UnspecifiedMatching DOID:687 hepatoblastoma oboInOwl:hasDbXref ICDO:8970/3 semapv:UnspecifiedMatching @@ -28297,58 +28323,58 @@ DOID:6872 spinal cord primitive neuroectodermal neoplasm oboInOwl:hasDbXref NCI: DOID:6872 spinal cord primitive neuroectodermal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1336048 semapv:UnspecifiedMatching DOID:6873 skin tag oboInOwl:hasDbXref UMLS_CUI:C0037293 semapv:UnspecifiedMatching DOID:6873 skin tag oboInOwl:hasDbXref NCI:C3374 semapv:UnspecifiedMatching +DOID:688 embryonal cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching DOID:688 embryonal cancer oboInOwl:hasDbXref NCI:C3264 semapv:UnspecifiedMatching DOID:688 embryonal cancer oboInOwl:hasDbXref UMLS_CUI:C0027654 semapv:UnspecifiedMatching -DOID:688 embryonal cancer oboInOwl:hasDbXref MESH:D009373 semapv:UnspecifiedMatching DOID:6880 small bowel fibrosarcoma oboInOwl:hasDbXref NCI:C5336 semapv:UnspecifiedMatching DOID:6880 small bowel fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335994 semapv:UnspecifiedMatching DOID:6886 ureter small cell carcinoma oboInOwl:hasDbXref NCI:C6176 semapv:UnspecifiedMatching DOID:6886 ureter small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336878 semapv:UnspecifiedMatching DOID:6888 ureter transitional cell carcinoma oboInOwl:hasDbXref NCI:C4830 semapv:UnspecifiedMatching DOID:6888 ureter transitional cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0577692 semapv:UnspecifiedMatching -DOID:6898 ovarian seromucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279392 semapv:UnspecifiedMatching DOID:6898 ovarian seromucinous carcinoma oboInOwl:hasDbXref NCI:C40090 semapv:UnspecifiedMatching +DOID:6898 ovarian seromucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279392 semapv:UnspecifiedMatching DOID:6901 familiar ovarian carcinoma oboInOwl:hasDbXref NCI:C36102 semapv:UnspecifiedMatching DOID:6901 familiar ovarian carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333992 semapv:UnspecifiedMatching -DOID:6903 eye lymphoma oboInOwl:hasDbXref NCI:C35690 semapv:UnspecifiedMatching DOID:6903 eye lymphoma oboInOwl:hasDbXref UMLS_CUI:C0730306 semapv:UnspecifiedMatching +DOID:6903 eye lymphoma oboInOwl:hasDbXref NCI:C35690 semapv:UnspecifiedMatching DOID:6906 glomangiomatosis oboInOwl:hasDbXref ICDO:8711/1 semapv:UnspecifiedMatching DOID:6906 glomangiomatosis oboInOwl:hasDbXref NCI:C27496 semapv:UnspecifiedMatching DOID:6906 glomangiomatosis oboInOwl:hasDbXref UMLS_CUI:C1333824 semapv:UnspecifiedMatching -DOID:6917 predominantly cortical thymoma oboInOwl:hasDbXref UMLS_CUI:C1266094 semapv:UnspecifiedMatching DOID:6917 predominantly cortical thymoma oboInOwl:hasDbXref NCI:C6887 semapv:UnspecifiedMatching +DOID:6917 predominantly cortical thymoma oboInOwl:hasDbXref UMLS_CUI:C1266094 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref ICD10CM:G57.3 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref MESH:D020427 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref NCI:C27061 semapv:UnspecifiedMatching DOID:6925 peroneal nerve paralysis oboInOwl:hasDbXref UMLS_CUI:C0270810 semapv:UnspecifiedMatching +DOID:6929 retinal edema oboInOwl:hasDbXref UMLS_CUI:C0242420 semapv:UnspecifiedMatching DOID:6929 retinal edema oboInOwl:hasDbXref ICD10CM:H35.81 semapv:UnspecifiedMatching DOID:6929 retinal edema oboInOwl:hasDbXref ICD9CM:362.83 semapv:UnspecifiedMatching DOID:6929 retinal edema oboInOwl:hasDbXref MESH:D010211 semapv:UnspecifiedMatching -DOID:6929 retinal edema oboInOwl:hasDbXref UMLS_CUI:C0242420 semapv:UnspecifiedMatching -DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref MESH:D003744 semapv:UnspecifiedMatching DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref NCI:C34529 semapv:UnspecifiedMatching DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0011351 semapv:UnspecifiedMatching +DOID:693 dental enamel hypoplasia oboInOwl:hasDbXref MESH:D003744 semapv:UnspecifiedMatching DOID:6931 papillary extrahepatic bile duct adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0861858 semapv:UnspecifiedMatching -DOID:6932 urinary bladder inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1511190 semapv:UnspecifiedMatching DOID:6932 urinary bladder inverted papilloma oboInOwl:hasDbXref NCI:C39859 semapv:UnspecifiedMatching -DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS_CUI:C1384678 semapv:UnspecifiedMatching -DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS_CUI:C0235754 semapv:UnspecifiedMatching +DOID:6932 urinary bladder inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1511190 semapv:UnspecifiedMatching DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref NCI:C3842 semapv:UnspecifiedMatching DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref NCI:C39858 semapv:UnspecifiedMatching +DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS_CUI:C0235754 semapv:UnspecifiedMatching +DOID:6933 bladder transitional cell papilloma oboInOwl:hasDbXref UMLS_CUI:C1384678 semapv:UnspecifiedMatching DOID:6934 urethra inverted papilloma oboInOwl:hasDbXref NCI:C6173 semapv:UnspecifiedMatching DOID:6934 urethra inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1336887 semapv:UnspecifiedMatching DOID:6935 ureter inverted papilloma oboInOwl:hasDbXref NCI:C6174 semapv:UnspecifiedMatching DOID:6935 ureter inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1336874 semapv:UnspecifiedMatching DOID:6936 ureter urothelial papilloma oboInOwl:hasDbXref NCI:C6160 semapv:UnspecifiedMatching DOID:6936 ureter urothelial papilloma oboInOwl:hasDbXref UMLS_CUI:C1519823 semapv:UnspecifiedMatching -DOID:6938 childhood intraocular retinoblastoma oboInOwl:hasDbXref NCI:C9047 semapv:UnspecifiedMatching DOID:6938 childhood intraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C1321869 semapv:UnspecifiedMatching +DOID:6938 childhood intraocular retinoblastoma oboInOwl:hasDbXref NCI:C9047 semapv:UnspecifiedMatching DOID:6939 childhood brain meningioma oboInOwl:hasDbXref NCI:C6253 semapv:UnspecifiedMatching DOID:6939 childhood brain meningioma oboInOwl:hasDbXref UMLS_CUI:C1332949 semapv:UnspecifiedMatching -DOID:6943 vulvar inverted follicular keratosis oboInOwl:hasDbXref UMLS_CUI:C1520084 semapv:UnspecifiedMatching DOID:6943 vulvar inverted follicular keratosis oboInOwl:hasDbXref NCI:C40291 semapv:UnspecifiedMatching -DOID:6944 vulvar seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C1336981 semapv:UnspecifiedMatching +DOID:6943 vulvar inverted follicular keratosis oboInOwl:hasDbXref UMLS_CUI:C1520084 semapv:UnspecifiedMatching DOID:6944 vulvar seborrheic keratosis oboInOwl:hasDbXref NCI:C6375 semapv:UnspecifiedMatching +DOID:6944 vulvar seborrheic keratosis oboInOwl:hasDbXref UMLS_CUI:C1336981 semapv:UnspecifiedMatching DOID:6945 inverted follicular keratosis oboInOwl:hasDbXref NCI:C9007 semapv:UnspecifiedMatching DOID:6945 inverted follicular keratosis oboInOwl:hasDbXref UMLS_CUI:C0334019 semapv:UnspecifiedMatching DOID:6947 sphenoidal sinus benign neoplasm oboInOwl:hasDbXref NCI:C6792 semapv:UnspecifiedMatching @@ -28359,12 +28385,12 @@ DOID:6950 combat disorder oboInOwl:hasDbXref MESH:D003130 semapv:UnspecifiedMatc DOID:6950 combat disorder oboInOwl:hasDbXref UMLS_CUI:C0009426 semapv:UnspecifiedMatching DOID:6951 telangiectatic osteogenic sarcoma oboInOwl:hasDbXref NCI:C3902 semapv:UnspecifiedMatching DOID:6951 telangiectatic osteogenic sarcoma oboInOwl:hasDbXref UMLS_CUI:C0259782 semapv:UnspecifiedMatching -DOID:6958 aleukemic monocytic leukemia cutis oboInOwl:hasDbXref NCI:C5630 semapv:UnspecifiedMatching DOID:6958 aleukemic monocytic leukemia cutis oboInOwl:hasDbXref UMLS_CUI:C1332232 semapv:UnspecifiedMatching -DOID:6959 rectal cloacogenic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333074 semapv:UnspecifiedMatching +DOID:6958 aleukemic monocytic leukemia cutis oboInOwl:hasDbXref NCI:C5630 semapv:UnspecifiedMatching DOID:6959 rectal cloacogenic carcinoma oboInOwl:hasDbXref NCI:C5555 semapv:UnspecifiedMatching -DOID:6961 Bartholin's gland squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511052 semapv:UnspecifiedMatching +DOID:6959 rectal cloacogenic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333074 semapv:UnspecifiedMatching DOID:6961 Bartholin's gland squamous cell carcinoma oboInOwl:hasDbXref NCI:C40293 semapv:UnspecifiedMatching +DOID:6961 Bartholin's gland squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511052 semapv:UnspecifiedMatching DOID:6969 acute canaliculitis oboInOwl:hasDbXref ICD10CM:H04.33 semapv:UnspecifiedMatching DOID:6969 acute canaliculitis oboInOwl:hasDbXref ICD9CM:375.31 semapv:UnspecifiedMatching DOID:6969 acute canaliculitis oboInOwl:hasDbXref UMLS_CUI:C0339130 semapv:UnspecifiedMatching @@ -28373,14 +28399,14 @@ DOID:6970 acute inflammation of lacrimal passage oboInOwl:hasDbXref ICD9CM:375.3 DOID:6970 acute inflammation of lacrimal passage oboInOwl:hasDbXref UMLS_CUI:C0339129 semapv:UnspecifiedMatching DOID:6975 bladder urothelial papillary carcinoma oboInOwl:hasDbXref NCI:C7383 semapv:UnspecifiedMatching DOID:6975 bladder urothelial papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518882 semapv:UnspecifiedMatching -DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C27202 semapv:UnspecifiedMatching DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517579 semapv:UnspecifiedMatching +DOID:6976 micropapillary variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C27202 semapv:UnspecifiedMatching DOID:6977 pancreatic cholera oboInOwl:hasDbXref MESH:D003969 semapv:UnspecifiedMatching DOID:6977 pancreatic cholera oboInOwl:hasDbXref NCI:C3488 semapv:UnspecifiedMatching DOID:6977 pancreatic cholera oboInOwl:hasDbXref UMLS_CUI:C0086768 semapv:UnspecifiedMatching -DOID:698 dentin sensitivity oboInOwl:hasDbXref UMLS_CUI:C0011432 semapv:UnspecifiedMatching -DOID:698 dentin sensitivity oboInOwl:hasDbXref NCI:C50778 semapv:UnspecifiedMatching DOID:698 dentin sensitivity oboInOwl:hasDbXref MESH:D003807 semapv:UnspecifiedMatching +DOID:698 dentin sensitivity oboInOwl:hasDbXref NCI:C50778 semapv:UnspecifiedMatching +DOID:698 dentin sensitivity oboInOwl:hasDbXref UMLS_CUI:C0011432 semapv:UnspecifiedMatching DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref NCI:C27473 semapv:UnspecifiedMatching DOID:6988 peripheral epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1333306 semapv:UnspecifiedMatching DOID:699 mitochondrial myopathy oboInOwl:hasDbXref MESH:D017240 semapv:UnspecifiedMatching @@ -28389,29 +28415,29 @@ DOID:699 mitochondrial myopathy oboInOwl:hasDbXref OMIM:251900 semapv:Unspecifie DOID:699 mitochondrial myopathy oboInOwl:hasDbXref UMLS_CUI:C0162670 semapv:UnspecifiedMatching DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref NCI:C7989 semapv:UnspecifiedMatching DOID:6992 intraocular mixed cell type melanoma oboInOwl:hasDbXref UMLS_CUI:C0279693 semapv:UnspecifiedMatching -DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref NCI:C6101 semapv:UnspecifiedMatching DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1334210 semapv:UnspecifiedMatching +DOID:6993 iris mixed cell melanoma oboInOwl:hasDbXref NCI:C6101 semapv:UnspecifiedMatching DOID:6994 malignant iris melanoma oboInOwl:hasDbXref NCI:C9088 semapv:UnspecifiedMatching DOID:6994 malignant iris melanoma oboInOwl:hasDbXref UMLS_CUI:C0346373 semapv:UnspecifiedMatching DOID:6996 intermediate cell type choroid melanoma oboInOwl:hasDbXref NCI:C6100 semapv:UnspecifiedMatching DOID:6996 intermediate cell type choroid melanoma oboInOwl:hasDbXref UMLS_CUI:C1334208 semapv:UnspecifiedMatching -DOID:6997 intermediate cell type ciliary body melanoma oboInOwl:hasDbXref UMLS_CUI:C1334209 semapv:UnspecifiedMatching DOID:6997 intermediate cell type ciliary body melanoma oboInOwl:hasDbXref NCI:C6118 semapv:UnspecifiedMatching +DOID:6997 intermediate cell type ciliary body melanoma oboInOwl:hasDbXref UMLS_CUI:C1334209 semapv:UnspecifiedMatching DOID:6998 gallbladder mucinous carcinoma oboInOwl:hasDbXref NCI:C5744 semapv:UnspecifiedMatching DOID:6998 gallbladder mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333750 semapv:UnspecifiedMatching DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref GARD:7048 semapv:UnspecifiedMatching DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref MESH:D028361 semapv:UnspecifiedMatching DOID:700 mitochondrial metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0751651 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref GARD:12867 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref MESH:D049913 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref NCI:C7462 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref OMIM:219090 semapv:UnspecifiedMatching -DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C1306214 semapv:UnspecifiedMatching DOID:7004 ACTH-secreting pituitary adenoma skos:exactMatch MESH:D049913 semapv:UnspecifiedMatching -DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334581 semapv:UnspecifiedMatching -DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref NCI:C4321 semapv:UnspecifiedMatching +DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref UMLS_CUI:C1306214 semapv:UnspecifiedMatching +DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref NCI:C7462 semapv:UnspecifiedMatching +DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref MESH:D049913 semapv:UnspecifiedMatching +DOID:7004 ACTH-secreting pituitary adenoma oboInOwl:hasDbXref GARD:12867 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref ICDO:9411/3 semapv:UnspecifiedMatching DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching +DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref NCI:C4321 semapv:UnspecifiedMatching +DOID:7005 gemistocytic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334581 semapv:UnspecifiedMatching DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref NCI:C4347 semapv:UnspecifiedMatching DOID:7007 childhood cerebral astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0338070 semapv:UnspecifiedMatching @@ -28419,16 +28445,16 @@ DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref ICDO:9410/3 semapv:Unspeci DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatching DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref NCI:C4320 semapv:UnspecifiedMatching DOID:7008 protoplasmic astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0334580 semapv:UnspecifiedMatching +DOID:701 dentin dysplasia oboInOwl:hasDbXref UMLS_CUI:C0011430 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref ORDO:1635 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref MESH:D003805 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125420 semapv:UnspecifiedMatching -DOID:701 dentin dysplasia oboInOwl:hasDbXref UMLS_CUI:C0011430 semapv:UnspecifiedMatching -DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518725 semapv:UnspecifiedMatching +DOID:701 dentin dysplasia oboInOwl:hasDbXref OMIM:125400 semapv:UnspecifiedMatching +DOID:701 dentin dysplasia oboInOwl:hasDbXref MESH:D003805 semapv:UnspecifiedMatching +DOID:701 dentin dysplasia oboInOwl:hasDbXref ICD10CM:K00.5 semapv:UnspecifiedMatching DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref NCI:C40041 semapv:UnspecifiedMatching -DOID:7014 infiltrating lipoma oboInOwl:hasDbXref UMLS_CUI:C0334473 semapv:UnspecifiedMatching +DOID:7013 ovarian mucinous cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1518725 semapv:UnspecifiedMatching DOID:7014 infiltrating lipoma oboInOwl:hasDbXref NCI:C7450 semapv:UnspecifiedMatching +DOID:7014 infiltrating lipoma oboInOwl:hasDbXref UMLS_CUI:C0334473 semapv:UnspecifiedMatching DOID:7016 tendon sheath lipoma oboInOwl:hasDbXref NCI:C6499 semapv:UnspecifiedMatching DOID:7016 tendon sheath lipoma oboInOwl:hasDbXref UMLS_CUI:C1336703 semapv:UnspecifiedMatching DOID:7017 lumbosacral lipoma oboInOwl:hasDbXref NCI:C6500 semapv:UnspecifiedMatching @@ -28437,61 +28463,61 @@ DOID:7024 mucinous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C41618 DOID:7024 mucinous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1513718 semapv:UnspecifiedMatching DOID:7030 bronchial mucus gland adenoma oboInOwl:hasDbXref NCI:C5664 semapv:UnspecifiedMatching DOID:7030 bronchial mucus gland adenoma oboInOwl:hasDbXref UMLS_CUI:C1332640 semapv:UnspecifiedMatching -DOID:7031 glottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C8186 semapv:UnspecifiedMatching DOID:7031 glottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280325 semapv:UnspecifiedMatching +DOID:7031 glottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C8186 semapv:UnspecifiedMatching DOID:7032 bile duct clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C5775 semapv:UnspecifiedMatching DOID:7032 bile duct clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0861855 semapv:UnspecifiedMatching -DOID:7033 anisakiasis skos:exactMatch MESH:D017129 semapv:UnspecifiedMatching -DOID:7033 anisakiasis oboInOwl:hasDbXref UMLS_CUI:C0162576 semapv:UnspecifiedMatching -DOID:7033 anisakiasis oboInOwl:hasDbXref NCI:C128393 semapv:UnspecifiedMatching -DOID:7033 anisakiasis oboInOwl:hasDbXref MESH:D017129 semapv:UnspecifiedMatching -DOID:7033 anisakiasis oboInOwl:hasDbXref ICD9CM:127.1 semapv:UnspecifiedMatching -DOID:7033 anisakiasis oboInOwl:hasDbXref ICD10CM:B81.0 semapv:UnspecifiedMatching DOID:7033 anisakiasis oboInOwl:hasDbXref GARD:693 semapv:UnspecifiedMatching +DOID:7033 anisakiasis oboInOwl:hasDbXref ICD10CM:B81.0 semapv:UnspecifiedMatching +DOID:7033 anisakiasis oboInOwl:hasDbXref ICD9CM:127.1 semapv:UnspecifiedMatching +DOID:7033 anisakiasis oboInOwl:hasDbXref MESH:D017129 semapv:UnspecifiedMatching +DOID:7033 anisakiasis oboInOwl:hasDbXref NCI:C128393 semapv:UnspecifiedMatching +DOID:7033 anisakiasis oboInOwl:hasDbXref UMLS_CUI:C0162576 semapv:UnspecifiedMatching +DOID:7033 anisakiasis skos:exactMatch MESH:D017129 semapv:UnspecifiedMatching DOID:7037 childhood immature teratoma of ovary oboInOwl:hasDbXref NCI:C6547 semapv:UnspecifiedMatching DOID:7037 childhood immature teratoma of ovary oboInOwl:hasDbXref UMLS_CUI:C1332990 semapv:UnspecifiedMatching DOID:7039 Borst-Jadassohn intraepidermal carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334260 semapv:UnspecifiedMatching -DOID:7040 uveal epithelioid cell melanoma oboInOwl:hasDbXref NCI:C35780 semapv:UnspecifiedMatching DOID:7040 uveal epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333422 semapv:UnspecifiedMatching -DOID:7041 choroid epithelioid cell melanoma oboInOwl:hasDbXref NCI:C6102 semapv:UnspecifiedMatching +DOID:7040 uveal epithelioid cell melanoma oboInOwl:hasDbXref NCI:C35780 semapv:UnspecifiedMatching DOID:7041 choroid epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333024 semapv:UnspecifiedMatching +DOID:7041 choroid epithelioid cell melanoma oboInOwl:hasDbXref NCI:C6102 semapv:UnspecifiedMatching DOID:7042 ciliary body epithelioid cell melanoma oboInOwl:hasDbXref NCI:C6119 semapv:UnspecifiedMatching DOID:7042 ciliary body epithelioid cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1333050 semapv:UnspecifiedMatching DOID:7045 basaloid lung carcinoma oboInOwl:hasDbXref NCI:C7266 semapv:UnspecifiedMatching DOID:7045 basaloid lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332463 semapv:UnspecifiedMatching -DOID:7046 cervical basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511063 semapv:UnspecifiedMatching DOID:7046 cervical basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C40189 semapv:UnspecifiedMatching +DOID:7046 cervical basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511063 semapv:UnspecifiedMatching DOID:7047 penis basaloid carcinoma oboInOwl:hasDbXref NCI:C6980 semapv:UnspecifiedMatching DOID:7047 penis basaloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332462 semapv:UnspecifiedMatching DOID:7048 vulvar basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C40286 semapv:UnspecifiedMatching DOID:7049 basaloid squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C27543 semapv:UnspecifiedMatching DOID:7049 basaloid squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335973 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref GARD:6870 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.22 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref MESH:D029242 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref NCI:C84808 semapv:UnspecifiedMatching -DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0917796 semapv:UnspecifiedMatching +DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref OMIM:535000 semapv:UnspecifiedMatching +DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref NCI:C84808 semapv:UnspecifiedMatching +DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref MESH:D029242 semapv:UnspecifiedMatching +DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref ICD10CM:H47.22 semapv:UnspecifiedMatching +DOID:705 Leber hereditary optic neuropathy oboInOwl:hasDbXref GARD:6870 semapv:UnspecifiedMatching DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref NCI:C6456 semapv:UnspecifiedMatching DOID:7050 thymus basaloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332464 semapv:UnspecifiedMatching -DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333443 semapv:UnspecifiedMatching DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref NCI:C7032 semapv:UnspecifiedMatching +DOID:7051 esophageal basaloid squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333443 semapv:UnspecifiedMatching DOID:7054 multiple skull base meningioma oboInOwl:hasDbXref NCI:C5279 semapv:UnspecifiedMatching DOID:7054 multiple skull base meningioma oboInOwl:hasDbXref UMLS_CUI:C1334829 semapv:UnspecifiedMatching DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref EFO:0000096 semapv:UnspecifiedMatching DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref NCI:C27910 semapv:UnspecifiedMatching DOID:706 mature B-cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334633 semapv:UnspecifiedMatching -DOID:707 B-cell lymphoma oboInOwl:hasDbXref GARD:5877 semapv:UnspecifiedMatching DOID:707 B-cell lymphoma oboInOwl:hasDbXref MESH:D016393 semapv:UnspecifiedMatching DOID:707 B-cell lymphoma oboInOwl:hasDbXref NCI:C3457 semapv:UnspecifiedMatching +DOID:707 B-cell lymphoma oboInOwl:hasDbXref GARD:5877 semapv:UnspecifiedMatching DOID:707 B-cell lymphoma oboInOwl:hasDbXref UMLS_CUI:C0079731 semapv:UnspecifiedMatching -DOID:7071 spinal cord dermoid cyst oboInOwl:hasDbXref NCI:C6808 semapv:UnspecifiedMatching DOID:7071 spinal cord dermoid cyst oboInOwl:hasDbXref UMLS_CUI:C1333278 semapv:UnspecifiedMatching +DOID:7071 spinal cord dermoid cyst oboInOwl:hasDbXref NCI:C6808 semapv:UnspecifiedMatching DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517894 semapv:UnspecifiedMatching DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref ICDO:8314/3 semapv:UnspecifiedMatching DOID:7076 breast lipid-rich carcinoma oboInOwl:hasDbXref NCI:C40365 semapv:UnspecifiedMatching -DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum oboInOwl:hasDbXref UMLS_CUI:C1334600 semapv:UnspecifiedMatching DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum oboInOwl:hasDbXref NCI:C6630 semapv:UnspecifiedMatching +DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum oboInOwl:hasDbXref UMLS_CUI:C1334600 semapv:UnspecifiedMatching DOID:7079 adult cystic teratoma oboInOwl:hasDbXref NCI:C9012 semapv:UnspecifiedMatching DOID:7079 adult cystic teratoma oboInOwl:hasDbXref UMLS_CUI:C1368888 semapv:UnspecifiedMatching DOID:7081 lung mixed small cell and squamous cell carcinoma oboInOwl:hasDbXref NCI:C9423 semapv:UnspecifiedMatching @@ -28500,33 +28526,33 @@ DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C37304 DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334817 semapv:UnspecifiedMatching DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref NCI:C35830 semapv:UnspecifiedMatching DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333120 semapv:UnspecifiedMatching -DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336695 semapv:UnspecifiedMatching DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref NCI:C35558 semapv:UnspecifiedMatching +DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336695 semapv:UnspecifiedMatching +DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C1336064 semapv:UnspecifiedMatching +DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0153832 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref ICD9CM:202.47 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref NCI:C7301 semapv:UnspecifiedMatching -DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0153832 semapv:UnspecifiedMatching -DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C1336064 semapv:UnspecifiedMatching DOID:7095 childhood epithelioid sarcoma oboInOwl:hasDbXref NCI:C8095 semapv:UnspecifiedMatching DOID:7095 childhood epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279989 semapv:UnspecifiedMatching -DOID:7097 macrocystic pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515307 semapv:UnspecifiedMatching DOID:7097 macrocystic pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39924 semapv:UnspecifiedMatching +DOID:7097 macrocystic pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515307 semapv:UnspecifiedMatching DOID:710 splenic manifestation of leukemia oboInOwl:hasDbXref NCI:C7296 semapv:UnspecifiedMatching DOID:710 splenic manifestation of leukemia oboInOwl:hasDbXref UMLS_CUI:C1336065 semapv:UnspecifiedMatching DOID:7103 diaphragma sellae meningioma oboInOwl:hasDbXref NCI:C5283 semapv:UnspecifiedMatching DOID:7103 diaphragma sellae meningioma oboInOwl:hasDbXref UMLS_CUI:C1333283 semapv:UnspecifiedMatching DOID:7105 epiglottis neoplasm oboInOwl:hasDbXref NCI:C4933 semapv:UnspecifiedMatching DOID:7105 epiglottis neoplasm oboInOwl:hasDbXref UMLS_CUI:C1290353 semapv:UnspecifiedMatching +DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0279780 semapv:UnspecifiedMatching DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref ICD10CM:C91.42 semapv:UnspecifiedMatching DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref NCI:C142882 semapv:UnspecifiedMatching -DOID:711 refractory hairy cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0279780 semapv:UnspecifiedMatching -DOID:712 refractory hematologic cancer oboInOwl:hasDbXref NCI:C27357 semapv:UnspecifiedMatching DOID:712 refractory hematologic cancer oboInOwl:hasDbXref UMLS_CUI:C1335724 semapv:UnspecifiedMatching +DOID:712 refractory hematologic cancer oboInOwl:hasDbXref NCI:C27357 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref ICD10CM:N30.4 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref ICD9CM:595.82 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref NCI:C123174 semapv:UnspecifiedMatching DOID:7127 radiation cystitis oboInOwl:hasDbXref UMLS_CUI:C0156270 semapv:UnspecifiedMatching -DOID:713 HCL-V oboInOwl:hasDbXref UMLS_CUI:C0349633 semapv:UnspecifiedMatching DOID:713 HCL-V oboInOwl:hasDbXref NCI:C7401 semapv:UnspecifiedMatching +DOID:713 HCL-V oboInOwl:hasDbXref UMLS_CUI:C0349633 semapv:UnspecifiedMatching DOID:7132 urinary bladder small cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C9461 semapv:UnspecifiedMatching DOID:7132 urinary bladder small cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332564 semapv:UnspecifiedMatching DOID:7133 gallbladder small cell carcinoma oboInOwl:hasDbXref NCI:C6763 semapv:UnspecifiedMatching @@ -28535,9 +28561,9 @@ DOID:7134 esophagus small cell carcinoma oboInOwl:hasDbXref NCI:C6762 semapv:Uns DOID:7134 esophagus small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1112474 semapv:UnspecifiedMatching DOID:7136 ampulla of Vater small cell carcinoma oboInOwl:hasDbXref NCI:C6655 semapv:UnspecifiedMatching DOID:7136 ampulla of Vater small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332250 semapv:UnspecifiedMatching +DOID:7138 cystitis cystica oboInOwl:hasDbXref UMLS_CUI:C0152262 semapv:UnspecifiedMatching DOID:7138 cystitis cystica oboInOwl:hasDbXref ICD9CM:595.81 semapv:UnspecifiedMatching DOID:7138 cystitis cystica oboInOwl:hasDbXref NCI:C96230 semapv:UnspecifiedMatching -DOID:7138 cystitis cystica oboInOwl:hasDbXref UMLS_CUI:C0152262 semapv:UnspecifiedMatching DOID:7139 endometrial small cell carcinoma oboInOwl:hasDbXref NCI:C40155 semapv:UnspecifiedMatching DOID:7139 endometrial small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516858 semapv:UnspecifiedMatching DOID:7140 Bartholin's gland small cell carcinoma oboInOwl:hasDbXref NCI:C40298 semapv:UnspecifiedMatching @@ -28547,50 +28573,50 @@ DOID:7142 thymus small cell carcinoma oboInOwl:hasDbXref NCI:C6460 semapv:Unspec DOID:7142 thymus small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335980 semapv:UnspecifiedMatching DOID:7144 laryngeal small cell carcinoma oboInOwl:hasDbXref NCI:C6025 semapv:UnspecifiedMatching DOID:7144 laryngeal small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334378 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref GARD:10491 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ICDO:9756/3 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref NCI:C6921 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ORDO:86897 semapv:UnspecifiedMatching -DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260327 semapv:UnspecifiedMatching DOID:7146 Langerhans cell sarcoma skos:exactMatch MESH:D054752 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref UMLS_CUI:C0038013 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ORDO:825 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref OMIMPS:106300 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref NCI:C84564 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260327 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref NCI:C6921 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref MESH:D054752 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ICDO:9756/3 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching +DOID:7146 Langerhans cell sarcoma oboInOwl:hasDbXref GARD:10491 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref EFO:0003898 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ICD9CM:720.0 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref GARD:9518 semapv:UnspecifiedMatching -DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref MESH:D013167 semapv:UnspecifiedMatching DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ICD10CM:M45 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref EFO:0000685 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD10CM:M06.9 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.0 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref KEGG:05323 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref MESH:D001172 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref NCI:C2884 semapv:UnspecifiedMatching -DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref OMIM:180300 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ICD9CM:720.0 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref MESH:D013167 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref NCI:C84564 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref OMIMPS:106300 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref ORDO:825 semapv:UnspecifiedMatching +DOID:7147 ankylosing spondylitis oboInOwl:hasDbXref UMLS_CUI:C0038013 semapv:UnspecifiedMatching DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref UMLS_CUI:C0003873 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref OMIM:180300 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref NCI:C2884 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref MESH:D001172 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref KEGG:05323 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD9CM:714.0 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref ICD10CM:M06.9 semapv:UnspecifiedMatching +DOID:7148 rheumatoid arthritis oboInOwl:hasDbXref EFO:0000685 semapv:UnspecifiedMatching DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref NCI:C5524 semapv:UnspecifiedMatching DOID:7152 prostate stromal sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335521 semapv:UnspecifiedMatching DOID:7154 anaplastic oligodendroglioma oboInOwl:hasDbXref NCI:C4326 semapv:UnspecifiedMatching -DOID:7160 rectum leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335682 semapv:UnspecifiedMatching DOID:7160 rectum leiomyoma oboInOwl:hasDbXref NCI:C5552 semapv:UnspecifiedMatching +DOID:7160 rectum leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1335682 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref ICD10CM:E06.1 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref ICD9CM:245.1 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref MESH:D013968 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref NCI:C35071 semapv:UnspecifiedMatching DOID:7165 subacute thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040149 semapv:UnspecifiedMatching +DOID:7166 thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040147 semapv:UnspecifiedMatching +DOID:7166 thyroiditis oboInOwl:hasDbXref NCI:C26894 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref ICD10CM:E06 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref ICD9CM:245 semapv:UnspecifiedMatching DOID:7166 thyroiditis oboInOwl:hasDbXref MESH:D013966 semapv:UnspecifiedMatching -DOID:7166 thyroiditis oboInOwl:hasDbXref NCI:C26894 semapv:UnspecifiedMatching -DOID:7166 thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0040147 semapv:UnspecifiedMatching -DOID:7168 lung occult adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335096 semapv:UnspecifiedMatching DOID:7168 lung occult adenocarcinoma oboInOwl:hasDbXref NCI:C6699 semapv:UnspecifiedMatching -DOID:7169 lung occult large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335095 semapv:UnspecifiedMatching +DOID:7168 lung occult adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335096 semapv:UnspecifiedMatching DOID:7169 lung occult large cell carcinoma oboInOwl:hasDbXref NCI:C6685 semapv:UnspecifiedMatching +DOID:7169 lung occult large cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335095 semapv:UnspecifiedMatching DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref ICDO:8124/3 semapv:UnspecifiedMatching DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref NCI:C8255 semapv:UnspecifiedMatching DOID:7173 cloacogenic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0334273 semapv:UnspecifiedMatching @@ -28598,28 +28624,28 @@ DOID:7174 anus basaloid carcinoma oboInOwl:hasDbXref NCI:C8256 semapv:Unspecifie DOID:7174 anus basaloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280470 semapv:UnspecifiedMatching DOID:7175 anal Buschke-Lowenstein tumor oboInOwl:hasDbXref NCI:C7470 semapv:UnspecifiedMatching DOID:7175 anal Buschke-Lowenstein tumor oboInOwl:hasDbXref UMLS_CUI:C1332278 semapv:UnspecifiedMatching -DOID:7177 anal canal squamous cell carcinoma oboInOwl:hasDbXref NCI:C7469 semapv:UnspecifiedMatching DOID:7177 anal canal squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332262 semapv:UnspecifiedMatching +DOID:7177 anal canal squamous cell carcinoma oboInOwl:hasDbXref NCI:C7469 semapv:UnspecifiedMatching DOID:7179 mixed eosinophil-basophil adenoma oboInOwl:hasDbXref NCI:C4148 semapv:UnspecifiedMatching DOID:7179 mixed eosinophil-basophil adenoma oboInOwl:hasDbXref UMLS_CUI:C0334312 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002880 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref OMIM:205700 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref NCI:C34378 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching -DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref ICD9CM:283.0 semapv:UnspecifiedMatching DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref GARD:5870 semapv:UnspecifiedMatching +DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref ICD9CM:283.0 semapv:UnspecifiedMatching +DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref MESH:D000744 semapv:UnspecifiedMatching +DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref NCI:C34378 semapv:UnspecifiedMatching +DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref OMIM:205700 semapv:UnspecifiedMatching +DOID:718 autoimmune hemolytic anemia oboInOwl:hasDbXref UMLS_CUI:C0002880 semapv:UnspecifiedMatching DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref NCI:C5569 semapv:UnspecifiedMatching DOID:7181 benign dermal neurilemmoma oboInOwl:hasDbXref UMLS_CUI:C1332490 semapv:UnspecifiedMatching DOID:7187 subacute lymphocytic thyroiditis oboInOwl:hasDbXref NCI:C35829 semapv:UnspecifiedMatching DOID:7187 subacute lymphocytic thyroiditis oboInOwl:hasDbXref UMLS_CUI:C1306804 semapv:UnspecifiedMatching -DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref ICD10CM:E06.3 semapv:UnspecifiedMatching -DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref MESH:D013967 semapv:UnspecifiedMatching -DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref NCI:C38766 semapv:UnspecifiedMatching DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref UMLS_CUI:C0920350 semapv:UnspecifiedMatching +DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref NCI:C38766 semapv:UnspecifiedMatching +DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref MESH:D013967 semapv:UnspecifiedMatching +DOID:7188 autoimmune thyroiditis oboInOwl:hasDbXref ICD10CM:E06.3 semapv:UnspecifiedMatching DOID:7191 ovarian endometrioid cystadenoma oboInOwl:hasDbXref NCI:C40075 semapv:UnspecifiedMatching DOID:7191 ovarian endometrioid cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1518713 semapv:UnspecifiedMatching -DOID:7192 hereditary conventional renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333985 semapv:UnspecifiedMatching DOID:7192 hereditary conventional renal cell carcinoma oboInOwl:hasDbXref NCI:C36260 semapv:UnspecifiedMatching +DOID:7192 hereditary conventional renal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333985 semapv:UnspecifiedMatching DOID:7198 maxillary sinus adenoid cystic carcinoma oboInOwl:hasDbXref NCI:C6239 semapv:UnspecifiedMatching DOID:7198 maxillary sinus adenoid cystic carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334643 semapv:UnspecifiedMatching DOID:720 normocytic anemia oboInOwl:hasDbXref NCI:C35142 semapv:UnspecifiedMatching @@ -28628,30 +28654,30 @@ DOID:7202 intermediate malignant teratoma oboInOwl:hasDbXref NCI:C4288 semapv:Un DOID:7202 intermediate malignant teratoma oboInOwl:hasDbXref UMLS_CUI:C0334522 semapv:UnspecifiedMatching DOID:7206 melanomatosis oboInOwl:hasDbXref NCI:C9499 semapv:UnspecifiedMatching DOID:7206 melanomatosis oboInOwl:hasDbXref UMLS_CUI:C1334691 semapv:UnspecifiedMatching -DOID:7207 lung combined large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C7267 semapv:UnspecifiedMatching DOID:7207 lung combined large cell neuroendocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333122 semapv:UnspecifiedMatching +DOID:7207 lung combined large cell neuroendocrine carcinoma oboInOwl:hasDbXref NCI:C7267 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref ICDO:9533/0 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref NCI:C4331 semapv:UnspecifiedMatching DOID:7210 psammomatous meningioma oboInOwl:hasDbXref UMLS_CUI:C0334607 semapv:UnspecifiedMatching -DOID:7211 fibrous meningioma oboInOwl:hasDbXref UMLS_CUI:C0334606 semapv:UnspecifiedMatching -DOID:7211 fibrous meningioma oboInOwl:hasDbXref NCI:C4330 semapv:UnspecifiedMatching DOID:7211 fibrous meningioma oboInOwl:hasDbXref ICDO:9532/0 semapv:UnspecifiedMatching DOID:7211 fibrous meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching +DOID:7211 fibrous meningioma oboInOwl:hasDbXref NCI:C4330 semapv:UnspecifiedMatching +DOID:7211 fibrous meningioma oboInOwl:hasDbXref UMLS_CUI:C0334606 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref ICDO:9531/0 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref NCI:C4329 semapv:UnspecifiedMatching DOID:7212 meningothelial meningioma oboInOwl:hasDbXref UMLS_CUI:C0334605 semapv:UnspecifiedMatching -DOID:7213 transitional meningioma oboInOwl:hasDbXref ICDO:9537/0 semapv:UnspecifiedMatching -DOID:7213 transitional meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7213 transitional meningioma oboInOwl:hasDbXref NCI:C4333 semapv:UnspecifiedMatching DOID:7213 transitional meningioma oboInOwl:hasDbXref UMLS_CUI:C0334611 semapv:UnspecifiedMatching +DOID:7213 transitional meningioma oboInOwl:hasDbXref ICDO:9537/0 semapv:UnspecifiedMatching +DOID:7213 transitional meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:7214 noninvasive malignant thymoma oboInOwl:hasDbXref NCI:C9080 semapv:UnspecifiedMatching DOID:7214 noninvasive malignant thymoma oboInOwl:hasDbXref UMLS_CUI:C0278847 semapv:UnspecifiedMatching DOID:7221 gallbladder papillary carcinoma oboInOwl:hasDbXref NCI:C5743 semapv:UnspecifiedMatching DOID:7221 gallbladder papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C5399921 semapv:UnspecifiedMatching -DOID:7223 breast giant fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0346157 semapv:UnspecifiedMatching DOID:7223 breast giant fibroadenoma oboInOwl:hasDbXref NCI:C4273 semapv:UnspecifiedMatching +DOID:7223 breast giant fibroadenoma oboInOwl:hasDbXref UMLS_CUI:C0346157 semapv:UnspecifiedMatching DOID:7224 spinal meninges cancer oboInOwl:hasDbXref ICD10CM:C70.1 semapv:UnspecifiedMatching DOID:7224 spinal meninges cancer oboInOwl:hasDbXref ICD9CM:192.3 semapv:UnspecifiedMatching DOID:7224 spinal meninges cancer oboInOwl:hasDbXref UMLS_CUI:C0153647 semapv:UnspecifiedMatching @@ -28659,31 +28685,31 @@ DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lym DOID:7230 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333037 semapv:UnspecifiedMatching DOID:7231 childhood CNS embryonal cell carcinoma oboInOwl:hasDbXref NCI:C6208 semapv:UnspecifiedMatching DOID:7231 childhood CNS embryonal cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1377605 semapv:UnspecifiedMatching -DOID:7232 central nervous system embryonal carcinoma oboInOwl:hasDbXref NCI:C7010 semapv:UnspecifiedMatching DOID:7232 central nervous system embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333377 semapv:UnspecifiedMatching +DOID:7232 central nervous system embryonal carcinoma oboInOwl:hasDbXref NCI:C7010 semapv:UnspecifiedMatching DOID:7233 adult central nervous system embryonal carcinoma oboInOwl:hasDbXref NCI:C5790 semapv:UnspecifiedMatching DOID:7233 adult central nervous system embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1370503 semapv:UnspecifiedMatching DOID:7234 mucinous cystadenocarcinoma of pancreas oboInOwl:hasDbXref NCI:C5713 semapv:UnspecifiedMatching DOID:7234 mucinous cystadenocarcinoma of pancreas oboInOwl:hasDbXref UMLS_CUI:C2063873 semapv:UnspecifiedMatching -DOID:7235 pancreatic mucinous cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1518872 semapv:UnspecifiedMatching DOID:7235 pancreatic mucinous cystadenoma oboInOwl:hasDbXref NCI:C41247 semapv:UnspecifiedMatching -DOID:7236 pancreatic invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C41246 semapv:UnspecifiedMatching +DOID:7235 pancreatic mucinous cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1518872 semapv:UnspecifiedMatching DOID:7236 pancreatic invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518870 semapv:UnspecifiedMatching +DOID:7236 pancreatic invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C41246 semapv:UnspecifiedMatching DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref NCI:C41245 semapv:UnspecifiedMatching DOID:7237 pancreatic non-invasive mucinous cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266078 semapv:UnspecifiedMatching DOID:724 female stress incontinence oboInOwl:hasDbXref ICD9CM:625.6 semapv:UnspecifiedMatching DOID:724 female stress incontinence oboInOwl:hasDbXref NCI:C35042 semapv:UnspecifiedMatching DOID:724 female stress incontinence oboInOwl:hasDbXref UMLS_CUI:C0038437 semapv:UnspecifiedMatching -DOID:7241 uterine corpus apoplectic leiomyoma oboInOwl:hasDbXref NCI:C40165 semapv:UnspecifiedMatching DOID:7241 uterine corpus apoplectic leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519852 semapv:UnspecifiedMatching -DOID:7242 uterine corpus cellular leiomyoma oboInOwl:hasDbXref NCI:C40163 semapv:UnspecifiedMatching +DOID:7241 uterine corpus apoplectic leiomyoma oboInOwl:hasDbXref NCI:C40165 semapv:UnspecifiedMatching DOID:7242 uterine corpus cellular leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1519845 semapv:UnspecifiedMatching +DOID:7242 uterine corpus cellular leiomyoma oboInOwl:hasDbXref NCI:C40163 semapv:UnspecifiedMatching DOID:7244 bladder urachal urothelial carcinoma oboInOwl:hasDbXref NCI:C39844 semapv:UnspecifiedMatching DOID:7244 bladder urachal urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511207 semapv:UnspecifiedMatching -DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515864 semapv:UnspecifiedMatching DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma oboInOwl:hasDbXref NCI:C39885 semapv:UnspecifiedMatching -DOID:7263 selective IgD deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0398695 semapv:UnspecifiedMatching +DOID:7246 lymphoepithelioma-like acinar prostate adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1515864 semapv:UnspecifiedMatching DOID:7263 selective IgD deficiency disease oboInOwl:hasDbXref NCI:C27144 semapv:UnspecifiedMatching +DOID:7263 selective IgD deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0398695 semapv:UnspecifiedMatching DOID:7266 familiar fallopian tube carcinoma oboInOwl:hasDbXref NCI:C40455 semapv:UnspecifiedMatching DOID:7266 familiar fallopian tube carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512418 semapv:UnspecifiedMatching DOID:7267 lung clear cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345959 semapv:UnspecifiedMatching @@ -28699,188 +28725,188 @@ DOID:728 nodular episcleritis oboInOwl:hasDbXref UMLS_CUI:C0155352 semapv:Unspec DOID:7280 congenital epulis oboInOwl:hasDbXref MESH:D005887 semapv:UnspecifiedMatching DOID:7280 congenital epulis oboInOwl:hasDbXref NCI:C4675 semapv:UnspecifiedMatching DOID:7280 congenital epulis oboInOwl:hasDbXref UMLS_CUI:C0376319 semapv:UnspecifiedMatching -DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1527427 semapv:UnspecifiedMatching -DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335352 semapv:UnspecifiedMatching DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref NCI:C39863 semapv:UnspecifiedMatching DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref NCI:C7371 semapv:UnspecifiedMatching +DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335352 semapv:UnspecifiedMatching +DOID:7284 Skene gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1527427 semapv:UnspecifiedMatching DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant oboInOwl:hasDbXref NCI:C27839 semapv:UnspecifiedMatching DOID:7289 endometrial endometrioid adenocarcinoma, secretory variant oboInOwl:hasDbXref UMLS_CUI:C1266057 semapv:UnspecifiedMatching DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C8717 semapv:UnspecifiedMatching DOID:7293 mucin-rich endometrial endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1513711 semapv:UnspecifiedMatching -DOID:7297 childhood extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C27376 semapv:UnspecifiedMatching DOID:7297 childhood extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332968 semapv:UnspecifiedMatching +DOID:7297 childhood extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C27376 semapv:UnspecifiedMatching DOID:730 urethral benign neoplasm oboInOwl:hasDbXref MESH:D014523 semapv:UnspecifiedMatching DOID:730 urethral benign neoplasm oboInOwl:hasDbXref NCI:C3428 semapv:UnspecifiedMatching DOID:730 urethral benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0041971 semapv:UnspecifiedMatching DOID:7302 endodermal sinus pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39927 semapv:UnspecifiedMatching DOID:7302 endodermal sinus pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515303 semapv:UnspecifiedMatching -DOID:7305 astroblastoma oboInOwl:hasDbXref UMLS_CUI:C0334587 semapv:UnspecifiedMatching -DOID:7305 astroblastoma oboInOwl:hasDbXref NCI:C4324 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref GARD:10635 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref ICDO:9430/3 semapv:UnspecifiedMatching DOID:7305 astroblastoma oboInOwl:hasDbXref MESH:D018302 semapv:UnspecifiedMatching +DOID:7305 astroblastoma oboInOwl:hasDbXref NCI:C4324 semapv:UnspecifiedMatching +DOID:7305 astroblastoma oboInOwl:hasDbXref UMLS_CUI:C0334587 semapv:UnspecifiedMatching +DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0042076 semapv:UnspecifiedMatching DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref MESH:D014571 semapv:UnspecifiedMatching DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref NCI:C3431 semapv:UnspecifiedMatching -DOID:731 urinary system benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0042076 semapv:UnspecifiedMatching -DOID:7312 breast adenomyoepithelial adenosis oboInOwl:hasDbXref NCI:C40391 semapv:UnspecifiedMatching DOID:7312 breast adenomyoepithelial adenosis oboInOwl:hasDbXref UMLS_CUI:C1511283 semapv:UnspecifiedMatching +DOID:7312 breast adenomyoepithelial adenosis oboInOwl:hasDbXref NCI:C40391 semapv:UnspecifiedMatching DOID:7315 Jewett-Marshall bladder cancer oboInOwl:hasDbXref NCI:C9368 semapv:UnspecifiedMatching DOID:7315 Jewett-Marshall bladder cancer oboInOwl:hasDbXref UMLS_CUI:C1336362 semapv:UnspecifiedMatching DOID:7319 axonal neuropathy oboInOwl:hasDbXref NCI:C27301 semapv:UnspecifiedMatching DOID:7319 axonal neuropathy oboInOwl:hasDbXref UMLS_CUI:C0270921 semapv:UnspecifiedMatching -DOID:732 urethral disease oboInOwl:hasDbXref UMLS_CUI:C0041969 semapv:UnspecifiedMatching -DOID:732 urethral disease oboInOwl:hasDbXref NCI:C26903 semapv:UnspecifiedMatching DOID:732 urethral disease oboInOwl:hasDbXref ICD10CM:N36.9 semapv:UnspecifiedMatching DOID:732 urethral disease oboInOwl:hasDbXref MESH:D014522 semapv:UnspecifiedMatching +DOID:732 urethral disease oboInOwl:hasDbXref NCI:C26903 semapv:UnspecifiedMatching +DOID:732 urethral disease oboInOwl:hasDbXref UMLS_CUI:C0041969 semapv:UnspecifiedMatching DOID:7320 ovarian serous cystadenofibroma oboInOwl:hasDbXref NCI:C40032 semapv:UnspecifiedMatching DOID:7320 ovarian serous cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C0877572 semapv:UnspecifiedMatching DOID:7326 cranial pseudosarcomatous fasciitis oboInOwl:hasDbXref NCI:C27248 semapv:UnspecifiedMatching DOID:7326 cranial pseudosarcomatous fasciitis oboInOwl:hasDbXref UMLS_CUI:C1333162 semapv:UnspecifiedMatching -DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref ICD10CM:M72.4 semapv:UnspecifiedMatching DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref NCI:C3827 semapv:UnspecifiedMatching +DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref ICD10CM:M72.4 semapv:UnspecifiedMatching DOID:7327 pseudosarcomatous fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0410005 semapv:UnspecifiedMatching DOID:7328 iris spindle cell melanoma oboInOwl:hasDbXref NCI:C6098 semapv:UnspecifiedMatching DOID:7328 iris spindle cell melanoma oboInOwl:hasDbXref UMLS_CUI:C1334287 semapv:UnspecifiedMatching DOID:7332 esophageal tuberculosis oboInOwl:hasDbXref ICD9CM:017.8 semapv:UnspecifiedMatching DOID:7332 esophageal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152902 semapv:UnspecifiedMatching -DOID:7333 nephrogenic adenoma of urinary bladder oboInOwl:hasDbXref NCI:C7415 semapv:UnspecifiedMatching DOID:7333 nephrogenic adenoma of urinary bladder oboInOwl:hasDbXref UMLS_CUI:C1336892 semapv:UnspecifiedMatching +DOID:7333 nephrogenic adenoma of urinary bladder oboInOwl:hasDbXref NCI:C7415 semapv:UnspecifiedMatching DOID:7334 nephrogenic adenoma oboInOwl:hasDbXref UMLS_CUI:C0334039 semapv:UnspecifiedMatching DOID:7334 nephrogenic adenoma oboInOwl:hasDbXref NCI:C97097 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0153620 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref NCI:C9106 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0700101 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref NCI:C7507 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref GARD:9390 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref ICD10CM:C68.0 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref ICD9CM:189.3 semapv:UnspecifiedMatching -DOID:734 urethra cancer oboInOwl:hasDbXref GARD:9390 semapv:UnspecifiedMatching DOID:734 urethra cancer oboInOwl:hasDbXref MESH:D014523 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref NCI:C7507 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref NCI:C9106 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0153620 semapv:UnspecifiedMatching +DOID:734 urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0700101 semapv:UnspecifiedMatching DOID:7340 childhood ovarian dysgerminoma oboInOwl:hasDbXref NCI:C6550 semapv:UnspecifiedMatching DOID:7340 childhood ovarian dysgerminoma oboInOwl:hasDbXref UMLS_CUI:C1332988 semapv:UnspecifiedMatching DOID:7347 ovarian stromal hyperthecosis oboInOwl:hasDbXref NCI:C40446 semapv:UnspecifiedMatching DOID:7347 ovarian stromal hyperthecosis oboInOwl:hasDbXref UMLS_CUI:C1518743 semapv:UnspecifiedMatching DOID:7350 thymic dysplasia oboInOwl:hasDbXref NCI:C27802 semapv:UnspecifiedMatching DOID:7350 thymic dysplasia oboInOwl:hasDbXref UMLS_CUI:C1331541 semapv:UnspecifiedMatching -DOID:7356 rectum sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C5556 semapv:UnspecifiedMatching DOID:7356 rectum sarcomatoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335689 semapv:UnspecifiedMatching +DOID:7356 rectum sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C5556 semapv:UnspecifiedMatching DOID:736 male urethral cancer oboInOwl:hasDbXref NCI:C39867 semapv:UnspecifiedMatching DOID:736 male urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1518164 semapv:UnspecifiedMatching DOID:7360 solid pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39925 semapv:UnspecifiedMatching DOID:7360 solid pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515312 semapv:UnspecifiedMatching DOID:7363 vulvar keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40284 semapv:UnspecifiedMatching -DOID:7365 Kimura disease oboInOwl:hasDbXref UMLS_CUI:C0033838 semapv:UnspecifiedMatching -DOID:7365 Kimura disease oboInOwl:hasDbXref NCI:C26867 semapv:UnspecifiedMatching DOID:7365 Kimura disease oboInOwl:hasDbXref GARD:6835 semapv:UnspecifiedMatching DOID:7365 Kimura disease oboInOwl:hasDbXref MESH:D000082242 semapv:UnspecifiedMatching +DOID:7365 Kimura disease oboInOwl:hasDbXref NCI:C26867 semapv:UnspecifiedMatching +DOID:7365 Kimura disease oboInOwl:hasDbXref UMLS_CUI:C0033838 semapv:UnspecifiedMatching DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref MESH:D000093284 semapv:UnspecifiedMatching DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref NCI:C27474 semapv:UnspecifiedMatching DOID:7371 superficial urinary bladder cancer oboInOwl:hasDbXref UMLS_CUI:C1336527 semapv:UnspecifiedMatching DOID:7378 pituitary hypoplasia oboInOwl:hasDbXref NCI:C27343 semapv:UnspecifiedMatching DOID:7378 pituitary hypoplasia oboInOwl:hasDbXref UMLS_CUI:C0948740 semapv:UnspecifiedMatching -DOID:7379 adrenal medulla carcinoma oboInOwl:hasDbXref NCI:C9276 semapv:UnspecifiedMatching DOID:7379 adrenal medulla carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334717 semapv:UnspecifiedMatching +DOID:7379 adrenal medulla carcinoma oboInOwl:hasDbXref NCI:C9276 semapv:UnspecifiedMatching DOID:738 female urethral cancer oboInOwl:hasDbXref NCI:C39866 semapv:UnspecifiedMatching DOID:738 female urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1517154 semapv:UnspecifiedMatching DOID:7380 squamous cell papilloma of skin oboInOwl:hasDbXref NCI:C4462 semapv:UnspecifiedMatching DOID:7380 squamous cell papilloma of skin oboInOwl:hasDbXref UMLS_CUI:C0345983 semapv:UnspecifiedMatching -DOID:7381 lymphohistiocytoid mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1334464 semapv:UnspecifiedMatching DOID:7381 lymphohistiocytoid mesothelioma oboInOwl:hasDbXref NCI:C27779 semapv:UnspecifiedMatching -DOID:7388 pulmonary vein leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335575 semapv:UnspecifiedMatching +DOID:7381 lymphohistiocytoid mesothelioma oboInOwl:hasDbXref UMLS_CUI:C1334464 semapv:UnspecifiedMatching DOID:7388 pulmonary vein leiomyosarcoma oboInOwl:hasDbXref NCI:C5374 semapv:UnspecifiedMatching +DOID:7388 pulmonary vein leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335575 semapv:UnspecifiedMatching DOID:7389 pulmonary artery leiomyosarcoma oboInOwl:hasDbXref NCI:C5373 semapv:UnspecifiedMatching DOID:7389 pulmonary artery leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335572 semapv:UnspecifiedMatching DOID:7390 superior vena cava leiomyosarcoma oboInOwl:hasDbXref NCI:C6745 semapv:UnspecifiedMatching DOID:7390 superior vena cava leiomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1336531 semapv:UnspecifiedMatching -DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching -DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C4970 semapv:UnspecifiedMatching DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref UMLS_CUI:C0751675 semapv:UnspecifiedMatching +DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref NCI:C4970 semapv:UnspecifiedMatching +DOID:7398 cerebral primitive neuroectodermal tumor oboInOwl:hasDbXref MESH:D018242 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref ICD10CM:D75.9 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref ICD9CM:289.9 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref MESH:D006402 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref NCI:C26323 semapv:UnspecifiedMatching DOID:74 hematopoietic system disease oboInOwl:hasDbXref UMLS_CUI:C0018939 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS_CUI:C0398791 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref ORDO:647 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref NCI:C4692 semapv:UnspecifiedMatching -DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref GARD:3904 semapv:UnspecifiedMatching +DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref MESH:D049932 semapv:UnspecifiedMatching +DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref NCI:C4692 semapv:UnspecifiedMatching +DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref OMIM:251260 semapv:UnspecifiedMatching +DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref ORDO:647 semapv:UnspecifiedMatching +DOID:7400 Nijmegen breakage syndrome oboInOwl:hasDbXref UMLS_CUI:C0398791 semapv:UnspecifiedMatching DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27447 semapv:UnspecifiedMatching DOID:7401 colonic L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274139 semapv:UnspecifiedMatching -DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27448 semapv:UnspecifiedMatching DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274140 semapv:UnspecifiedMatching -DOID:7408 vulvar keratoacanthoma oboInOwl:hasDbXref NCI:C128167 semapv:UnspecifiedMatching +DOID:7402 L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27448 semapv:UnspecifiedMatching DOID:7408 vulvar keratoacanthoma oboInOwl:hasDbXref UMLS_CUI:C4288007 semapv:UnspecifiedMatching +DOID:7408 vulvar keratoacanthoma oboInOwl:hasDbXref NCI:C128167 semapv:UnspecifiedMatching DOID:7409 vulvar non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40285 semapv:UnspecifiedMatching DOID:7409 vulvar non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1520092 semapv:UnspecifiedMatching DOID:7411 ovarian endometrioid cystadenofibroma oboInOwl:hasDbXref NCI:C27288 semapv:UnspecifiedMatching DOID:7411 ovarian endometrioid cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1335158 semapv:UnspecifiedMatching -DOID:7426 cutaneous anthrax oboInOwl:hasDbXref UMLS_CUI:C0003177 semapv:UnspecifiedMatching -DOID:7426 cutaneous anthrax oboInOwl:hasDbXref MESH:C531621 semapv:UnspecifiedMatching +DOID:7426 cutaneous anthrax oboInOwl:hasDbXref GARD:8158 semapv:UnspecifiedMatching DOID:7426 cutaneous anthrax oboInOwl:hasDbXref ICD10CM:A22.0 semapv:UnspecifiedMatching DOID:7426 cutaneous anthrax oboInOwl:hasDbXref ICD9CM:022.0 semapv:UnspecifiedMatching -DOID:7426 cutaneous anthrax oboInOwl:hasDbXref GARD:8158 semapv:UnspecifiedMatching +DOID:7426 cutaneous anthrax oboInOwl:hasDbXref MESH:C531621 semapv:UnspecifiedMatching +DOID:7426 cutaneous anthrax oboInOwl:hasDbXref UMLS_CUI:C0003177 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref GARD:8157 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref ICD10CM:A22 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref ICD9CM:022 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref MESH:D000881 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref NCI:C84565 semapv:UnspecifiedMatching DOID:7427 anthrax disease oboInOwl:hasDbXref UMLS_CUI:C0003175 semapv:UnspecifiedMatching -DOID:7428 pineal region germinoma oboInOwl:hasDbXref NCI:C8712 semapv:UnspecifiedMatching DOID:7428 pineal region germinoma oboInOwl:hasDbXref UMLS_CUI:C0854912 semapv:UnspecifiedMatching +DOID:7428 pineal region germinoma oboInOwl:hasDbXref NCI:C8712 semapv:UnspecifiedMatching DOID:7429 childhood brain germinoma oboInOwl:hasDbXref NCI:C6207 semapv:UnspecifiedMatching DOID:7429 childhood brain germinoma oboInOwl:hasDbXref UMLS_CUI:C1332948 semapv:UnspecifiedMatching -DOID:743 dermatographia oboInOwl:hasDbXref UMLS_CUI:C0343065 semapv:UnspecifiedMatching -DOID:743 dermatographia oboInOwl:hasDbXref NCI:C111885 semapv:UnspecifiedMatching -DOID:743 dermatographia oboInOwl:hasDbXref OMIM:125635 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref ICD10CM:L50.3 semapv:UnspecifiedMatching DOID:743 dermatographia oboInOwl:hasDbXref ICD9CM:708.3 semapv:UnspecifiedMatching +DOID:743 dermatographia oboInOwl:hasDbXref NCI:C111885 semapv:UnspecifiedMatching +DOID:743 dermatographia oboInOwl:hasDbXref OMIM:125635 semapv:UnspecifiedMatching +DOID:743 dermatographia oboInOwl:hasDbXref UMLS_CUI:C0343065 semapv:UnspecifiedMatching DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref NCI:C5795 semapv:UnspecifiedMatching DOID:7430 childhood germ cell brain tumor oboInOwl:hasDbXref UMLS_CUI:C1377598 semapv:UnspecifiedMatching DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39930 semapv:UnspecifiedMatching DOID:7435 polyvesicular vitelline pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515311 semapv:UnspecifiedMatching DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma oboInOwl:hasDbXref NCI:C27850 semapv:UnspecifiedMatching DOID:7436 sarcomatoid uterine corpus endometrioid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336913 semapv:UnspecifiedMatching -DOID:7437 uterus perivascular epithelioid cell tumor oboInOwl:hasDbXref NCI:C40180 semapv:UnspecifiedMatching DOID:7437 uterus perivascular epithelioid cell tumor oboInOwl:hasDbXref UMLS_CUI:C1519862 semapv:UnspecifiedMatching +DOID:7437 uterus perivascular epithelioid cell tumor oboInOwl:hasDbXref NCI:C40180 semapv:UnspecifiedMatching DOID:7438 ovarian clear cell cystadenocarcinoma oboInOwl:hasDbXref NCI:C7980 semapv:UnspecifiedMatching DOID:7438 ovarian clear cell cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279667 semapv:UnspecifiedMatching -DOID:7439 polyp of middle ear oboInOwl:hasDbXref UMLS_CUI:C0271466 semapv:UnspecifiedMatching DOID:7439 polyp of middle ear oboInOwl:hasDbXref ICD10CM:H74.4 semapv:UnspecifiedMatching DOID:7439 polyp of middle ear oboInOwl:hasDbXref NCI:C6933 semapv:UnspecifiedMatching -DOID:7441 chronic metabolic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1333042 semapv:UnspecifiedMatching +DOID:7439 polyp of middle ear oboInOwl:hasDbXref UMLS_CUI:C0271466 semapv:UnspecifiedMatching DOID:7441 chronic metabolic polyneuropathy oboInOwl:hasDbXref NCI:C35602 semapv:UnspecifiedMatching +DOID:7441 chronic metabolic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1333042 semapv:UnspecifiedMatching DOID:7442 monoclonal gammopathy of uncertain significance oboInOwl:hasDbXref GARD:7034 semapv:UnspecifiedMatching DOID:7444 obsolete diffuse intraductal papillomatosis oboInOwl:hasDbXref NCI:C7364 semapv:UnspecifiedMatching DOID:7444 obsolete diffuse intraductal papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1377912 semapv:UnspecifiedMatching DOID:745 epididymis adenomatoid tumor oboInOwl:hasDbXref NCI:C6382 semapv:UnspecifiedMatching DOID:745 epididymis adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C1333415 semapv:UnspecifiedMatching -DOID:7457 enterobiasis oboInOwl:hasDbXref ICD10CM:B80 semapv:UnspecifiedMatching DOID:7457 enterobiasis oboInOwl:hasDbXref MESH:D010123 semapv:UnspecifiedMatching DOID:7457 enterobiasis oboInOwl:hasDbXref UMLS_CUI:C0030100 semapv:UnspecifiedMatching +DOID:7457 enterobiasis oboInOwl:hasDbXref ICD10CM:B80 semapv:UnspecifiedMatching DOID:7459 acantholytic variant squamous cell breast carcinoma oboInOwl:hasDbXref NCI:C40359 semapv:UnspecifiedMatching DOID:7459 acantholytic variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519485 semapv:UnspecifiedMatching -DOID:746 adenomatoid tumor skos:exactMatch MESH:D018254 semapv:UnspecifiedMatching -DOID:746 adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C0206675 semapv:UnspecifiedMatching -DOID:746 adenomatoid tumor oboInOwl:hasDbXref NCI:C3762 semapv:UnspecifiedMatching -DOID:746 adenomatoid tumor oboInOwl:hasDbXref MESH:D018254 semapv:UnspecifiedMatching -DOID:746 adenomatoid tumor oboInOwl:hasDbXref ICDO:9054/0 semapv:UnspecifiedMatching DOID:746 adenomatoid tumor oboInOwl:hasDbXref ICD10CM:D19.9 semapv:UnspecifiedMatching +DOID:746 adenomatoid tumor oboInOwl:hasDbXref ICDO:9054/0 semapv:UnspecifiedMatching +DOID:746 adenomatoid tumor oboInOwl:hasDbXref MESH:D018254 semapv:UnspecifiedMatching +DOID:746 adenomatoid tumor oboInOwl:hasDbXref NCI:C3762 semapv:UnspecifiedMatching +DOID:746 adenomatoid tumor oboInOwl:hasDbXref UMLS_CUI:C0206675 semapv:UnspecifiedMatching +DOID:746 adenomatoid tumor skos:exactMatch MESH:D018254 semapv:UnspecifiedMatching DOID:7460 spindle cell variant squamous cell breast carcinoma oboInOwl:hasDbXref NCI:C40358 semapv:UnspecifiedMatching DOID:7460 spindle cell variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519487 semapv:UnspecifiedMatching DOID:7461 large cell keratinizing variant squamous cell breast carcinoma oboInOwl:hasDbXref NCI:C40357 semapv:UnspecifiedMatching DOID:7461 large cell keratinizing variant squamous cell breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C1519486 semapv:UnspecifiedMatching -DOID:7463 childhood pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7959 semapv:UnspecifiedMatching DOID:7463 childhood pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279614 semapv:UnspecifiedMatching -DOID:7465 chronic NK-cell lymphocytosis oboInOwl:hasDbXref NCI:C39591 semapv:UnspecifiedMatching +DOID:7463 childhood pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C7959 semapv:UnspecifiedMatching DOID:7465 chronic NK-cell lymphocytosis oboInOwl:hasDbXref UMLS_CUI:C1512709 semapv:UnspecifiedMatching -DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref NCI:C7376 semapv:UnspecifiedMatching -DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0812413 semapv:UnspecifiedMatching +DOID:7465 chronic NK-cell lymphocytosis oboInOwl:hasDbXref NCI:C39591 semapv:UnspecifiedMatching DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref ICD10CM:C45.0 semapv:UnspecifiedMatching DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref MESH:D000086002 semapv:UnspecifiedMatching +DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref NCI:C7376 semapv:UnspecifiedMatching +DOID:7474 malignant pleural mesothelioma oboInOwl:hasDbXref UMLS_CUI:C0812413 semapv:UnspecifiedMatching +DOID:7475 diverticulitis oboInOwl:hasDbXref MESH:D004238 semapv:UnspecifiedMatching DOID:7475 diverticulitis oboInOwl:hasDbXref NCI:C26752 semapv:UnspecifiedMatching DOID:7475 diverticulitis oboInOwl:hasDbXref UMLS_CUI:C0012813 semapv:UnspecifiedMatching -DOID:7475 diverticulitis oboInOwl:hasDbXref MESH:D004238 semapv:UnspecifiedMatching DOID:7479 duodenal somatostatinoma oboInOwl:hasDbXref NCI:C27407 semapv:UnspecifiedMatching DOID:7479 duodenal somatostatinoma oboInOwl:hasDbXref UMLS_CUI:C1333320 semapv:UnspecifiedMatching DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref ICDO:8014/3 semapv:UnspecifiedMatching @@ -28888,62 +28914,62 @@ DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref NCI:C6 DOID:7480 large cell carcinoma with rhabdoid phenotype oboInOwl:hasDbXref UMLS_CUI:C1265997 semapv:UnspecifiedMatching DOID:7482 petrous apex meningioma oboInOwl:hasDbXref NCI:C5271 semapv:UnspecifiedMatching DOID:7482 petrous apex meningioma oboInOwl:hasDbXref UMLS_CUI:C1335396 semapv:UnspecifiedMatching -DOID:7483 cervical keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40187 semapv:UnspecifiedMatching DOID:7483 cervical keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1517658 semapv:UnspecifiedMatching +DOID:7483 cervical keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40187 semapv:UnspecifiedMatching DOID:7488 posterior urethra cancer oboInOwl:hasDbXref NCI:C7640 semapv:UnspecifiedMatching DOID:7488 posterior urethra cancer oboInOwl:hasDbXref UMLS_CUI:C0279931 semapv:UnspecifiedMatching -DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref NCI:C34874 semapv:UnspecifiedMatching -DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref UMLS_CUI:C0029376 semapv:UnspecifiedMatching DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref ICD10CM:M92.52 semapv:UnspecifiedMatching DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching -DOID:7491 vulvar proximal-type epithelioid sarcoma oboInOwl:hasDbXref NCI:C40319 semapv:UnspecifiedMatching +DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref NCI:C34874 semapv:UnspecifiedMatching +DOID:7489 Osgood-Schlatter's disease oboInOwl:hasDbXref UMLS_CUI:C0029376 semapv:UnspecifiedMatching DOID:7491 vulvar proximal-type epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1520093 semapv:UnspecifiedMatching +DOID:7491 vulvar proximal-type epithelioid sarcoma oboInOwl:hasDbXref NCI:C40319 semapv:UnspecifiedMatching DOID:7492 central epithelioid sarcoma oboInOwl:hasDbXref NCI:C27472 semapv:UnspecifiedMatching DOID:7492 central epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335563 semapv:UnspecifiedMatching DOID:7497 brain ependymoma oboInOwl:hasDbXref NCI:C3861 semapv:UnspecifiedMatching DOID:7497 brain ependymoma oboInOwl:hasDbXref UMLS_CUI:C0238029 semapv:UnspecifiedMatching -DOID:75 lymphatic system disease oboInOwl:hasDbXref UMLS_CUI:C0024228 semapv:UnspecifiedMatching DOID:75 lymphatic system disease oboInOwl:hasDbXref MESH:D008206 semapv:UnspecifiedMatching -DOID:750 peptic ulcer disease oboInOwl:hasDbXref ICD10CM:K27 semapv:UnspecifiedMatching +DOID:75 lymphatic system disease oboInOwl:hasDbXref UMLS_CUI:C0024228 semapv:UnspecifiedMatching +DOID:750 peptic ulcer disease oboInOwl:hasDbXref UMLS_CUI:C0030920 semapv:UnspecifiedMatching +DOID:750 peptic ulcer disease oboInOwl:hasDbXref NCI:C3318 semapv:UnspecifiedMatching DOID:750 peptic ulcer disease oboInOwl:hasDbXref ICD9CM:533 semapv:UnspecifiedMatching +DOID:750 peptic ulcer disease oboInOwl:hasDbXref ICD10CM:K27 semapv:UnspecifiedMatching DOID:750 peptic ulcer disease oboInOwl:hasDbXref MESH:D010437 semapv:UnspecifiedMatching -DOID:750 peptic ulcer disease oboInOwl:hasDbXref NCI:C3318 semapv:UnspecifiedMatching -DOID:750 peptic ulcer disease oboInOwl:hasDbXref UMLS_CUI:C0030920 semapv:UnspecifiedMatching DOID:7501 childhood infratentorial ependymoma oboInOwl:hasDbXref NCI:C9041 semapv:UnspecifiedMatching DOID:7501 childhood infratentorial ependymoma oboInOwl:hasDbXref UMLS_CUI:C0278599 semapv:UnspecifiedMatching -DOID:7502 childhood supratentorial ependymoma oboInOwl:hasDbXref UMLS_CUI:C0278650 semapv:UnspecifiedMatching DOID:7502 childhood supratentorial ependymoma oboInOwl:hasDbXref NCI:C9043 semapv:UnspecifiedMatching +DOID:7502 childhood supratentorial ependymoma oboInOwl:hasDbXref UMLS_CUI:C0278650 semapv:UnspecifiedMatching DOID:7503 extrahepatic bile duct papillary adenoma oboInOwl:hasDbXref NCI:C5849 semapv:UnspecifiedMatching DOID:7503 extrahepatic bile duct papillary adenoma oboInOwl:hasDbXref UMLS_CUI:C1333510 semapv:UnspecifiedMatching DOID:7505 small intestine benign neoplasm oboInOwl:hasDbXref NCI:C4432 semapv:UnspecifiedMatching DOID:7505 small intestine benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345832 semapv:UnspecifiedMatching DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27452 semapv:UnspecifiedMatching DOID:7506 small intestinal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274143 semapv:UnspecifiedMatching -DOID:7511 breast intraductal papillomatosis oboInOwl:hasDbXref NCI:C5201 semapv:UnspecifiedMatching DOID:7511 breast intraductal papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334247 semapv:UnspecifiedMatching +DOID:7511 breast intraductal papillomatosis oboInOwl:hasDbXref NCI:C5201 semapv:UnspecifiedMatching DOID:7512 obsolete localized intraductal papillomatosis oboInOwl:hasDbXref NCI:C7365 semapv:UnspecifiedMatching DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref MESH:C536741 semapv:UnspecifiedMatching DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref NCI:C40141 semapv:UnspecifiedMatching DOID:7514 Wolffian adnexal neoplasm oboInOwl:hasDbXref UMLS_CUI:C1520159 semapv:UnspecifiedMatching DOID:7515 lumbar spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5298 semapv:UnspecifiedMatching DOID:7515 lumbar spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334436 semapv:UnspecifiedMatching -DOID:7516 childhood central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332956 semapv:UnspecifiedMatching DOID:7516 childhood central nervous system mixed germ cell tumor oboInOwl:hasDbXref NCI:C27403 semapv:UnspecifiedMatching +DOID:7516 childhood central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332956 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref ICD10CM:F52.31 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref ICD9CM:302.73 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref NCI:C34958 semapv:UnspecifiedMatching DOID:7518 inhibited female orgasm oboInOwl:hasDbXref UMLS_CUI:C0033948 semapv:UnspecifiedMatching DOID:7519 endocervical carcinoma oboInOwl:hasDbXref UMLS_CUI:C1299237 semapv:UnspecifiedMatching -DOID:752 peptic ulcer perforation oboInOwl:hasDbXref MESH:D010439 semapv:UnspecifiedMatching DOID:752 peptic ulcer perforation oboInOwl:hasDbXref UMLS_CUI:C0030925 semapv:UnspecifiedMatching -DOID:7520 periductal breast myoepitheliosis oboInOwl:hasDbXref NCI:C40388 semapv:UnspecifiedMatching +DOID:752 peptic ulcer perforation oboInOwl:hasDbXref MESH:D010439 semapv:UnspecifiedMatching DOID:7520 periductal breast myoepitheliosis oboInOwl:hasDbXref UMLS_CUI:C1518974 semapv:UnspecifiedMatching +DOID:7520 periductal breast myoepitheliosis oboInOwl:hasDbXref NCI:C40388 semapv:UnspecifiedMatching DOID:7521 breast myoepitheliosis oboInOwl:hasDbXref NCI:C40385 semapv:UnspecifiedMatching DOID:7521 breast myoepitheliosis oboInOwl:hasDbXref UMLS_CUI:C1513799 semapv:UnspecifiedMatching DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C6773 semapv:UnspecifiedMatching DOID:7522 childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS_CUI:C1332972 semapv:UnspecifiedMatching -DOID:7527 acute gonococcal endometritis oboInOwl:hasDbXref UMLS_CUI:C0153196 semapv:UnspecifiedMatching DOID:7527 acute gonococcal endometritis oboInOwl:hasDbXref ICD9CM:098.16 semapv:UnspecifiedMatching +DOID:7527 acute gonococcal endometritis oboInOwl:hasDbXref UMLS_CUI:C0153196 semapv:UnspecifiedMatching DOID:7528 acute endometritis oboInOwl:hasDbXref NCI:C27022 semapv:UnspecifiedMatching DOID:7528 acute endometritis oboInOwl:hasDbXref UMLS_CUI:C0238103 semapv:UnspecifiedMatching DOID:7531 anal gland adenocarcinoma oboInOwl:hasDbXref NCI:C5609 semapv:UnspecifiedMatching @@ -28952,13 +28978,13 @@ DOID:7532 squamous papillomatosis oboInOwl:hasDbXref ICDO:8060/0 semapv:Unspecif DOID:7532 squamous papillomatosis oboInOwl:hasDbXref NCI:C9009 semapv:UnspecifiedMatching DOID:7532 squamous papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1378340 semapv:UnspecifiedMatching DOID:7533 subareolar duct papillomatosis oboInOwl:hasDbXref NCI:C9008 semapv:UnspecifiedMatching -DOID:7538 breast ductal adenoma oboInOwl:hasDbXref NCI:C40384 semapv:UnspecifiedMatching DOID:7538 breast ductal adenoma oboInOwl:hasDbXref UMLS_CUI:C1511307 semapv:UnspecifiedMatching +DOID:7538 breast ductal adenoma oboInOwl:hasDbXref NCI:C40384 semapv:UnspecifiedMatching DOID:7539 pregnancy adenoma oboInOwl:hasDbXref NCI:C9473 semapv:UnspecifiedMatching DOID:7539 pregnancy adenoma oboInOwl:hasDbXref UMLS_CUI:C1266023 semapv:UnspecifiedMatching +DOID:754 bladder tuberculosis oboInOwl:hasDbXref ICD10CM:A18.12 semapv:UnspecifiedMatching DOID:754 bladder tuberculosis oboInOwl:hasDbXref ICD9CM:016.1 semapv:UnspecifiedMatching DOID:754 bladder tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152793 semapv:UnspecifiedMatching -DOID:754 bladder tuberculosis oboInOwl:hasDbXref ICD10CM:A18.12 semapv:UnspecifiedMatching DOID:7540 breast apocrine adenoma oboInOwl:hasDbXref NCI:C40383 semapv:UnspecifiedMatching DOID:7540 breast apocrine adenoma oboInOwl:hasDbXref UMLS_CUI:C1388299 semapv:UnspecifiedMatching DOID:7541 mixed epithelial/mesenchymal metaplastic breast carcinoma oboInOwl:hasDbXref NCI:C40364 semapv:UnspecifiedMatching @@ -28968,13 +28994,13 @@ DOID:7542 osteosarcoma arising in bone Paget's disease oboInOwl:hasDbXref UMLS_C DOID:7549 ceruminoma oboInOwl:hasDbXref NCI:C6088 semapv:UnspecifiedMatching DOID:7549 ceruminoma oboInOwl:hasDbXref UMLS_CUI:C0334352 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref NCI:C92950 semapv:UnspecifiedMatching -DOID:7551 gonorrhea oboInOwl:hasDbXref ICD10CM:A54 semapv:UnspecifiedMatching +DOID:7551 gonorrhea oboInOwl:hasDbXref UMLS_CUI:C0018081 semapv:UnspecifiedMatching +DOID:7551 gonorrhea oboInOwl:hasDbXref MESH:D006069 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref ICD9CM:098 semapv:UnspecifiedMatching +DOID:7551 gonorrhea oboInOwl:hasDbXref ICD10CM:A54 semapv:UnspecifiedMatching DOID:7551 gonorrhea oboInOwl:hasDbXref MEDDRA:10018604 semapv:UnspecifiedMatching -DOID:7551 gonorrhea oboInOwl:hasDbXref MESH:D006069 semapv:UnspecifiedMatching -DOID:7551 gonorrhea oboInOwl:hasDbXref UMLS_CUI:C0018081 semapv:UnspecifiedMatching -DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant oboInOwl:hasDbXref UMLS_CUI:C1512743 semapv:UnspecifiedMatching DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant oboInOwl:hasDbXref NCI:C39824 semapv:UnspecifiedMatching +DOID:7553 infiltrating bladder urothelial carcinoma sarcomatoid variant oboInOwl:hasDbXref UMLS_CUI:C1512743 semapv:UnspecifiedMatching DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref MESH:D020435 semapv:UnspecifiedMatching DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref NCI:C27212 semapv:UnspecifiedMatching DOID:7558 glossopharyngeal motor neuropathy oboInOwl:hasDbXref UMLS_CUI:C0751942 semapv:UnspecifiedMatching @@ -28982,48 +29008,48 @@ DOID:7559 asymmetric motor neuropathy oboInOwl:hasDbXref NCI:C27953 semapv:Unspe DOID:7559 asymmetric motor neuropathy oboInOwl:hasDbXref UMLS_CUI:C1332341 semapv:UnspecifiedMatching DOID:7565 vulvar eccrine porocarcinoma oboInOwl:hasDbXref NCI:C40306 semapv:UnspecifiedMatching DOID:7565 vulvar eccrine porocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1520081 semapv:UnspecifiedMatching -DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref GARD:7431 semapv:UnspecifiedMatching -DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref MESH:D057090 semapv:UnspecifiedMatching DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref NCI:C5560 semapv:UnspecifiedMatching DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266065 semapv:UnspecifiedMatching +DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref MESH:D057090 semapv:UnspecifiedMatching +DOID:7566 eccrine porocarcinoma oboInOwl:hasDbXref GARD:7431 semapv:UnspecifiedMatching DOID:7567 vulvar clear cell hidradenocarcinoma oboInOwl:hasDbXref NCI:C40307 semapv:UnspecifiedMatching DOID:7567 vulvar clear cell hidradenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1520076 semapv:UnspecifiedMatching DOID:7571 malignant cystic nephroma oboInOwl:hasDbXref ICDO:8959/3 semapv:UnspecifiedMatching -DOID:7574 pancreatic intraductal papillary-colloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335304 semapv:UnspecifiedMatching DOID:7574 pancreatic intraductal papillary-colloid carcinoma oboInOwl:hasDbXref NCI:C5725 semapv:UnspecifiedMatching +DOID:7574 pancreatic intraductal papillary-colloid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335304 semapv:UnspecifiedMatching DOID:7575 pancreatic intraductal papillary-mucinous neoplasm oboInOwl:hasDbXref UMLS_CUI:C1266071 semapv:UnspecifiedMatching DOID:7577 pancreatic foamy gland adenocarcinoma oboInOwl:hasDbXref NCI:C37256 semapv:UnspecifiedMatching DOID:7577 pancreatic foamy gland adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335303 semapv:UnspecifiedMatching DOID:7578 breast scirrhous carcinoma oboInOwl:hasDbXref NCI:C7362 semapv:UnspecifiedMatching DOID:7578 breast scirrhous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0346151 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref GARD:4883 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref ICD10CM:Q89.3 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref ICD9CM:759.3 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref MESH:D012857 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref NCI:C87121 semapv:UnspecifiedMatching -DOID:758 situs inversus oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching DOID:758 situs inversus oboInOwl:hasDbXref UMLS_CUI:C0037221 semapv:UnspecifiedMatching +DOID:758 situs inversus oboInOwl:hasDbXref MESH:D012857 semapv:UnspecifiedMatching +DOID:758 situs inversus oboInOwl:hasDbXref OMIM:270100 semapv:UnspecifiedMatching +DOID:758 situs inversus oboInOwl:hasDbXref ICD10CM:Q89.3 semapv:UnspecifiedMatching +DOID:758 situs inversus oboInOwl:hasDbXref ICD9CM:759.3 semapv:UnspecifiedMatching +DOID:758 situs inversus oboInOwl:hasDbXref GARD:4883 semapv:UnspecifiedMatching DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8189 semapv:UnspecifiedMatching DOID:7583 glottis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280329 semapv:UnspecifiedMatching DOID:7584 subglottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8190 semapv:UnspecifiedMatching DOID:7584 subglottis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280330 semapv:UnspecifiedMatching -DOID:7585 subglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280326 semapv:UnspecifiedMatching DOID:7585 subglottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C8187 semapv:UnspecifiedMatching +DOID:7585 subglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280326 semapv:UnspecifiedMatching DOID:7586 supraglottis verrucous carcinoma oboInOwl:hasDbXref NCI:C8191 semapv:UnspecifiedMatching DOID:7586 supraglottis verrucous carcinoma oboInOwl:hasDbXref UMLS_CUI:C0280331 semapv:UnspecifiedMatching DOID:7587 supraglottis squamous cell carcinoma oboInOwl:hasDbXref NCI:C4945 semapv:UnspecifiedMatching DOID:7587 supraglottis squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0749163 semapv:UnspecifiedMatching DOID:7591 gestational ovarian choriocarcinoma oboInOwl:hasDbXref NCI:C40442 semapv:UnspecifiedMatching DOID:7591 gestational ovarian choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1517538 semapv:UnspecifiedMatching -DOID:7596 asbestos-related lung carcinoma oboInOwl:hasDbXref NCI:C27925 semapv:UnspecifiedMatching DOID:7596 asbestos-related lung carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332337 semapv:UnspecifiedMatching +DOID:7596 asbestos-related lung carcinoma oboInOwl:hasDbXref NCI:C27925 semapv:UnspecifiedMatching DOID:7598 cervical lymphoepithelioma-like carcinoma oboInOwl:hasDbXref NCI:C40193 semapv:UnspecifiedMatching DOID:7598 cervical lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516418 semapv:UnspecifiedMatching DOID:7599 lymphoepithelioma-like thymic carcinoma oboInOwl:hasDbXref NCI:C7998 semapv:UnspecifiedMatching DOID:7599 lymphoepithelioma-like thymic carcinoma oboInOwl:hasDbXref UMLS_CUI:C0279706 semapv:UnspecifiedMatching +DOID:76 stomach disease oboInOwl:hasDbXref MESH:D013272 semapv:UnspecifiedMatching DOID:76 stomach disease oboInOwl:hasDbXref NCI:C26886 semapv:UnspecifiedMatching DOID:76 stomach disease oboInOwl:hasDbXref UMLS_CUI:C0038354 semapv:UnspecifiedMatching -DOID:76 stomach disease oboInOwl:hasDbXref MESH:D013272 semapv:UnspecifiedMatching DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma oboInOwl:hasDbXref NCI:C39821 semapv:UnspecifiedMatching DOID:7600 infiltrating bladder lymphoepithelioma-like carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512736 semapv:UnspecifiedMatching DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref ICDO:9195/3 semapv:UnspecifiedMatching @@ -29031,24 +29057,24 @@ DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref NCI:C35870 semapv:Unspeci DOID:7602 conventional osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1266166 semapv:UnspecifiedMatching DOID:7603 fibrosarcomatous osteosarcoma oboInOwl:hasDbXref NCI:C4020 semapv:UnspecifiedMatching DOID:7603 fibrosarcomatous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0279602 semapv:UnspecifiedMatching +DOID:7607 chief cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334320 semapv:UnspecifiedMatching DOID:7607 chief cell adenoma oboInOwl:hasDbXref ICDO:8321/0 semapv:UnspecifiedMatching DOID:7607 chief cell adenoma oboInOwl:hasDbXref NCI:C4154 semapv:UnspecifiedMatching -DOID:7607 chief cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0334320 semapv:UnspecifiedMatching DOID:7608 parathyroid adenoma oboInOwl:hasDbXref MESH:D010282 semapv:UnspecifiedMatching DOID:7608 parathyroid adenoma oboInOwl:hasDbXref NCI:C3916 semapv:UnspecifiedMatching DOID:7608 parathyroid adenoma oboInOwl:hasDbXref UMLS_CUI:C0262587 semapv:UnspecifiedMatching -DOID:7609 parathyroid transitional clear cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0279700 semapv:UnspecifiedMatching DOID:7609 parathyroid transitional clear cell adenoma oboInOwl:hasDbXref NCI:C7993 semapv:UnspecifiedMatching -DOID:7610 mixed cell type adenoma of parathyroid oboInOwl:hasDbXref UMLS_CUI:C0279701 semapv:UnspecifiedMatching +DOID:7609 parathyroid transitional clear cell adenoma oboInOwl:hasDbXref UMLS_CUI:C0279700 semapv:UnspecifiedMatching DOID:7610 mixed cell type adenoma of parathyroid oboInOwl:hasDbXref NCI:C7994 semapv:UnspecifiedMatching +DOID:7610 mixed cell type adenoma of parathyroid oboInOwl:hasDbXref UMLS_CUI:C0279701 semapv:UnspecifiedMatching DOID:7611 parathyroid oncocytic adenoma oboInOwl:hasDbXref NCI:C27393 semapv:UnspecifiedMatching DOID:7611 parathyroid oncocytic adenoma oboInOwl:hasDbXref UMLS_CUI:C1335351 semapv:UnspecifiedMatching DOID:7612 childhood intracortical osteosarcoma oboInOwl:hasDbXref NCI:C6590 semapv:UnspecifiedMatching DOID:7612 childhood intracortical osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332974 semapv:UnspecifiedMatching -DOID:7613 sarcomatosis of the meninges oboInOwl:hasDbXref NCI:C4334 semapv:UnspecifiedMatching DOID:7613 sarcomatosis of the meninges oboInOwl:hasDbXref UMLS_CUI:C0334612 semapv:UnspecifiedMatching -DOID:7614 meninges sarcoma oboInOwl:hasDbXref NCI:C4073 semapv:UnspecifiedMatching +DOID:7613 sarcomatosis of the meninges oboInOwl:hasDbXref NCI:C4334 semapv:UnspecifiedMatching DOID:7614 meninges sarcoma oboInOwl:hasDbXref UMLS_CUI:C0302327 semapv:UnspecifiedMatching +DOID:7614 meninges sarcoma oboInOwl:hasDbXref NCI:C4073 semapv:UnspecifiedMatching DOID:7615 sarcomatosis oboInOwl:hasDbXref ICDO:8800/9 semapv:UnspecifiedMatching DOID:7615 sarcomatosis oboInOwl:hasDbXref NCI:C4243 semapv:UnspecifiedMatching DOID:7615 sarcomatosis oboInOwl:hasDbXref UMLS_CUI:C0334451 semapv:UnspecifiedMatching @@ -29056,47 +29082,47 @@ DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered oboInO DOID:7631 adult embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref UMLS_CUI:C0281330 semapv:UnspecifiedMatching DOID:7632 Cowper gland carcinoma oboInOwl:hasDbXref NCI:C39864 semapv:UnspecifiedMatching DOID:7632 Cowper gland carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516284 semapv:UnspecifiedMatching -DOID:7633 macular holes oboInOwl:hasDbXref UMLS_CUI:C0024441 semapv:UnspecifiedMatching DOID:7633 macular holes oboInOwl:hasDbXref MESH:D012167 semapv:UnspecifiedMatching DOID:7633 macular holes oboInOwl:hasDbXref NCI:C34795 semapv:UnspecifiedMatching +DOID:7633 macular holes oboInOwl:hasDbXref UMLS_CUI:C0024441 semapv:UnspecifiedMatching DOID:7634 suprasellar meningioma oboInOwl:hasDbXref NCI:C6776 semapv:UnspecifiedMatching DOID:7634 suprasellar meningioma oboInOwl:hasDbXref UMLS_CUI:C1336535 semapv:UnspecifiedMatching DOID:7635 Gasserian ganglion meningioma oboInOwl:hasDbXref NCI:C6779 semapv:UnspecifiedMatching DOID:7635 Gasserian ganglion meningioma oboInOwl:hasDbXref UMLS_CUI:C1333760 semapv:UnspecifiedMatching -DOID:7639 malignant granular cell skin tumor oboInOwl:hasDbXref NCI:C5614 semapv:UnspecifiedMatching DOID:7639 malignant granular cell skin tumor oboInOwl:hasDbXref UMLS_CUI:C1334575 semapv:UnspecifiedMatching +DOID:7639 malignant granular cell skin tumor oboInOwl:hasDbXref NCI:C5614 semapv:UnspecifiedMatching DOID:7642 cholangiolocellular carcinoma oboInOwl:hasDbXref NCI:C41617 semapv:UnspecifiedMatching DOID:7642 cholangiolocellular carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516490 semapv:UnspecifiedMatching DOID:7643 acantholytic squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C4460 semapv:UnspecifiedMatching DOID:7643 acantholytic squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345979 semapv:UnspecifiedMatching -DOID:7646 multiple spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334825 semapv:UnspecifiedMatching DOID:7646 multiple spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5275 semapv:UnspecifiedMatching -DOID:7650 pulmonary type ovarian small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518737 semapv:UnspecifiedMatching +DOID:7646 multiple spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1334825 semapv:UnspecifiedMatching DOID:7650 pulmonary type ovarian small cell carcinoma oboInOwl:hasDbXref NCI:C40440 semapv:UnspecifiedMatching +DOID:7650 pulmonary type ovarian small cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518737 semapv:UnspecifiedMatching DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type oboInOwl:hasDbXref NCI:C40439 semapv:UnspecifiedMatching DOID:7651 small-cell carcinoma of the ovary of hypercalcemic type oboInOwl:hasDbXref UMLS_CUI:C1518736 semapv:UnspecifiedMatching DOID:7656 adult infiltrating astrocytic neoplasm oboInOwl:hasDbXref NCI:C8289 semapv:UnspecifiedMatching DOID:7656 adult infiltrating astrocytic neoplasm oboInOwl:hasDbXref UMLS_CUI:C0281329 semapv:UnspecifiedMatching DOID:7664 endometrial mixed adenocarcinoma oboInOwl:hasDbXref NCI:C40153 semapv:UnspecifiedMatching -DOID:7665 non-gestational ovarian choriocarcinoma oboInOwl:hasDbXref NCI:C39991 semapv:UnspecifiedMatching DOID:7665 non-gestational ovarian choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1518355 semapv:UnspecifiedMatching -DOID:767 muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0026846 semapv:UnspecifiedMatching -DOID:767 muscular atrophy oboInOwl:hasDbXref NCI:C94834 semapv:UnspecifiedMatching +DOID:7665 non-gestational ovarian choriocarcinoma oboInOwl:hasDbXref NCI:C39991 semapv:UnspecifiedMatching DOID:767 muscular atrophy oboInOwl:hasDbXref MESH:D009133 semapv:UnspecifiedMatching +DOID:767 muscular atrophy oboInOwl:hasDbXref NCI:C94834 semapv:UnspecifiedMatching +DOID:767 muscular atrophy oboInOwl:hasDbXref UMLS_CUI:C0026846 semapv:UnspecifiedMatching DOID:7675 testicular fibroma oboInOwl:hasDbXref NCI:C39951 semapv:UnspecifiedMatching DOID:7675 testicular fibroma oboInOwl:hasDbXref UMLS_CUI:C1515282 semapv:UnspecifiedMatching DOID:7676 testicular thecoma oboInOwl:hasDbXref NCI:C39952 semapv:UnspecifiedMatching DOID:7676 testicular thecoma oboInOwl:hasDbXref UMLS_CUI:C1515299 semapv:UnspecifiedMatching DOID:7678 sphenoid sinus inverted papilloma oboInOwl:hasDbXref NCI:C6841 semapv:UnspecifiedMatching DOID:7678 sphenoid sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1336037 semapv:UnspecifiedMatching -DOID:7679 sphenoid sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1336038 semapv:UnspecifiedMatching DOID:7679 sphenoid sinus Schneiderian papilloma oboInOwl:hasDbXref NCI:C6838 semapv:UnspecifiedMatching -DOID:768 retinoblastoma oboInOwl:hasDbXref GARD:7563 semapv:UnspecifiedMatching -DOID:768 retinoblastoma oboInOwl:hasDbXref ICDO:9510/3 semapv:UnspecifiedMatching -DOID:768 retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching +DOID:7679 sphenoid sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1336038 semapv:UnspecifiedMatching +DOID:768 retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0035335 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref NCI:C7541 semapv:UnspecifiedMatching DOID:768 retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching -DOID:768 retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C0035335 semapv:UnspecifiedMatching +DOID:768 retinoblastoma oboInOwl:hasDbXref ICDO:9510/3 semapv:UnspecifiedMatching +DOID:768 retinoblastoma oboInOwl:hasDbXref MESH:D012175 semapv:UnspecifiedMatching +DOID:768 retinoblastoma oboInOwl:hasDbXref GARD:7563 semapv:UnspecifiedMatching DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref NCI:C6240 semapv:UnspecifiedMatching DOID:7684 maxillary sinus adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1334642 semapv:UnspecifiedMatching DOID:7685 pancreatic non-invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref NCI:C41251 semapv:UnspecifiedMatching @@ -29106,52 +29132,52 @@ DOID:7689 leptomeninges sarcoma oboInOwl:hasDbXref UMLS_CUI:C1384416 semapv:Unsp DOID:769 neuroblastoma oboInOwl:hasDbXref UMLS_CUI:C0027819 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref ORDO:635 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref NCI:C3270 semapv:UnspecifiedMatching -DOID:769 neuroblastoma oboInOwl:hasDbXref GARD:7185 semapv:UnspecifiedMatching +DOID:769 neuroblastoma oboInOwl:hasDbXref EFO:0000621 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref ICDO:9500/3 semapv:UnspecifiedMatching +DOID:769 neuroblastoma oboInOwl:hasDbXref GARD:7185 semapv:UnspecifiedMatching DOID:769 neuroblastoma oboInOwl:hasDbXref MESH:D009447 semapv:UnspecifiedMatching -DOID:769 neuroblastoma oboInOwl:hasDbXref EFO:0000621 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0162871 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref EFO:0004214 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref GARD:9181 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref MESH:D017544 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref NCI:C27000 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref MESH:D017544 semapv:UnspecifiedMatching +DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref GARD:9181 semapv:UnspecifiedMatching DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:100070 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:609782 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:611891 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref OMIM:614375 semapv:UnspecifiedMatching -DOID:7693 abdominal aortic aneurysm oboInOwl:hasDbXref UMLS_CUI:C0162871 semapv:UnspecifiedMatching DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref NCI:C39843 semapv:UnspecifiedMatching DOID:7694 bladder urachal adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511204 semapv:UnspecifiedMatching DOID:7696 lung hilum cancer oboInOwl:hasDbXref UMLS_CUI:C0346601 semapv:UnspecifiedMatching DOID:7697 pancreatic ACTH hormone producing tumor oboInOwl:hasDbXref NCI:C27466 semapv:UnspecifiedMatching DOID:7697 pancreatic ACTH hormone producing tumor oboInOwl:hasDbXref UMLS_CUI:C1335300 semapv:UnspecifiedMatching -DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref MESH:C536126 semapv:UnspecifiedMatching DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref NCI:C45837 semapv:UnspecifiedMatching +DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref MESH:C536126 semapv:UnspecifiedMatching DOID:7698 non-functioning pancreatic endocrine tumor oboInOwl:hasDbXref UMLS_CUI:C1334977 semapv:UnspecifiedMatching +DOID:77 gastrointestinal system disease oboInOwl:hasDbXref UMLS_CUI:C0012242 semapv:UnspecifiedMatching +DOID:77 gastrointestinal system disease oboInOwl:hasDbXref MESH:D004066 semapv:UnspecifiedMatching DOID:77 gastrointestinal system disease oboInOwl:hasDbXref ICD10CM:K92.9 semapv:UnspecifiedMatching DOID:77 gastrointestinal system disease oboInOwl:hasDbXref ICD9CM:520-579.99 semapv:UnspecifiedMatching -DOID:77 gastrointestinal system disease oboInOwl:hasDbXref MESH:D004066 semapv:UnspecifiedMatching -DOID:77 gastrointestinal system disease oboInOwl:hasDbXref UMLS_CUI:C0012242 semapv:UnspecifiedMatching DOID:7707 rectum signet ring adenocarcinoma oboInOwl:hasDbXref NCI:C9168 semapv:UnspecifiedMatching DOID:7707 rectum signet ring adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C0279654 semapv:UnspecifiedMatching DOID:7708 perianal skin Paget's disease oboInOwl:hasDbXref NCI:C7476 semapv:UnspecifiedMatching DOID:7708 perianal skin Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1332270 semapv:UnspecifiedMatching -DOID:771 retinal cell cancer oboInOwl:hasDbXref UMLS_CUI:C1335765 semapv:UnspecifiedMatching DOID:771 retinal cell cancer oboInOwl:hasDbXref NCI:C7061 semapv:UnspecifiedMatching +DOID:771 retinal cell cancer oboInOwl:hasDbXref UMLS_CUI:C1335765 semapv:UnspecifiedMatching DOID:7713 tuberculum sellae meningioma oboInOwl:hasDbXref NCI:C5284 semapv:UnspecifiedMatching DOID:7713 tuberculum sellae meningioma oboInOwl:hasDbXref UMLS_CUI:C1336829 semapv:UnspecifiedMatching DOID:7716 mixed ductal-endocrine carcinoma oboInOwl:hasDbXref UMLS_CUI:C1301048 semapv:UnspecifiedMatching DOID:7717 colloid carcinoma of the pancreas oboInOwl:hasDbXref NCI:C37214 semapv:UnspecifiedMatching DOID:7717 colloid carcinoma of the pancreas oboInOwl:hasDbXref UMLS_CUI:C1333081 semapv:UnspecifiedMatching -DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref MESH:D004830 semapv:UnspecifiedMatching DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref NCI:C3022 semapv:UnspecifiedMatching DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref UMLS_CUI:C0014549 semapv:UnspecifiedMatching +DOID:7725 epilepsy with generalized tonic-clonic seizures oboInOwl:hasDbXref MESH:D004830 semapv:UnspecifiedMatching DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref ICDO:8551/3 semapv:UnspecifiedMatching DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref NCI:C5727 semapv:UnspecifiedMatching DOID:7729 acinar cell cystadenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266087 semapv:UnspecifiedMatching DOID:7731 childhood malignant hemangiopericytoma oboInOwl:hasDbXref NCI:C8090 semapv:UnspecifiedMatching DOID:7731 childhood malignant hemangiopericytoma oboInOwl:hasDbXref UMLS_CUI:C0279983 semapv:UnspecifiedMatching -DOID:7732 childhood malignant schwannoma oboInOwl:hasDbXref UMLS_CUI:C0279987 semapv:UnspecifiedMatching DOID:7732 childhood malignant schwannoma oboInOwl:hasDbXref NCI:C8094 semapv:UnspecifiedMatching +DOID:7732 childhood malignant schwannoma oboInOwl:hasDbXref UMLS_CUI:C0279987 semapv:UnspecifiedMatching DOID:7733 signet ring cell intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C41619 semapv:UnspecifiedMatching DOID:7733 signet ring cell intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519321 semapv:UnspecifiedMatching DOID:7735 pancreatic colloid cystadenoma oboInOwl:hasDbXref NCI:C5718 semapv:UnspecifiedMatching @@ -29160,125 +29186,125 @@ DOID:7736 retinal telangiectasia oboInOwl:hasDbXref ICD9CM:362.15 semapv:Unspeci DOID:7736 retinal telangiectasia oboInOwl:hasDbXref UMLS_CUI:C0154835 semapv:UnspecifiedMatching DOID:774 retina lymphoma oboInOwl:hasDbXref NCI:C4365 semapv:UnspecifiedMatching DOID:774 retina lymphoma oboInOwl:hasDbXref UMLS_CUI:C0339556 semapv:UnspecifiedMatching -DOID:7747 childhood extraocular retinoblastoma oboInOwl:hasDbXref NCI:C9048 semapv:UnspecifiedMatching DOID:7747 childhood extraocular retinoblastoma oboInOwl:hasDbXref UMLS_CUI:C1321870 semapv:UnspecifiedMatching +DOID:7747 childhood extraocular retinoblastoma oboInOwl:hasDbXref NCI:C9048 semapv:UnspecifiedMatching DOID:775 intraocular lymphoma oboInOwl:hasDbXref MESH:D064090 semapv:UnspecifiedMatching DOID:775 intraocular lymphoma oboInOwl:hasDbXref NCI:C9184 semapv:UnspecifiedMatching DOID:775 intraocular lymphoma oboInOwl:hasDbXref UMLS_CUI:C0281658 semapv:UnspecifiedMatching DOID:7750 adult brain ependymoma oboInOwl:hasDbXref NCI:C9372 semapv:UnspecifiedMatching DOID:7750 adult brain ependymoma oboInOwl:hasDbXref UMLS_CUI:C1332186 semapv:UnspecifiedMatching -DOID:7752 extrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1333511 semapv:UnspecifiedMatching DOID:7752 extrahepatic biliary papillomatosis oboInOwl:hasDbXref NCI:C7124 semapv:UnspecifiedMatching +DOID:7752 extrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1333511 semapv:UnspecifiedMatching DOID:7756 neonatal leukemia oboInOwl:hasDbXref NCI:C3845 semapv:UnspecifiedMatching DOID:7756 neonatal leukemia oboInOwl:hasDbXref UMLS_CUI:C0235813 semapv:UnspecifiedMatching DOID:7757 childhood leukemia oboInOwl:hasDbXref NCI:C4989 semapv:UnspecifiedMatching DOID:7757 childhood leukemia oboInOwl:hasDbXref UMLS_CUI:C1332977 semapv:UnspecifiedMatching DOID:7762 childhood multilocular cystic kidney neoplasm oboInOwl:hasDbXref NCI:C6566 semapv:UnspecifiedMatching DOID:7762 childhood multilocular cystic kidney neoplasm oboInOwl:hasDbXref UMLS_CUI:C1332983 semapv:UnspecifiedMatching -DOID:7763 carcinoma of supraglottis oboInOwl:hasDbXref NCI:C5973 semapv:UnspecifiedMatching DOID:7763 carcinoma of supraglottis oboInOwl:hasDbXref UMLS_CUI:C1299240 semapv:UnspecifiedMatching +DOID:7763 carcinoma of supraglottis oboInOwl:hasDbXref NCI:C5973 semapv:UnspecifiedMatching DOID:7764 subglottis carcinoma oboInOwl:hasDbXref NCI:C5972 semapv:UnspecifiedMatching DOID:7764 subglottis carcinoma oboInOwl:hasDbXref UMLS_CUI:C1299239 semapv:UnspecifiedMatching +DOID:7765 Coats disease oboInOwl:hasDbXref GARD:6121 semapv:UnspecifiedMatching +DOID:7765 Coats disease oboInOwl:hasDbXref ICD10CM:H35.02 semapv:UnspecifiedMatching +DOID:7765 Coats disease oboInOwl:hasDbXref ICD9CM:362.12 semapv:UnspecifiedMatching +DOID:7765 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref OMIM:300216 semapv:UnspecifiedMatching DOID:7765 Coats disease oboInOwl:hasDbXref UMLS_CUI:C0154832 semapv:UnspecifiedMatching -DOID:7765 Coats disease oboInOwl:hasDbXref MESH:D058456 semapv:UnspecifiedMatching -DOID:7765 Coats disease oboInOwl:hasDbXref ICD9CM:362.12 semapv:UnspecifiedMatching -DOID:7765 Coats disease oboInOwl:hasDbXref ICD10CM:H35.02 semapv:UnspecifiedMatching -DOID:7765 Coats disease oboInOwl:hasDbXref GARD:6121 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref ICD10CM:F22 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref ICD9CM:297.1 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref MESH:D012563 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref NCI:C94379 semapv:UnspecifiedMatching DOID:778 delusional disorder oboInOwl:hasDbXref UMLS_CUI:C0011251 semapv:UnspecifiedMatching -DOID:7787 breast osteosarcoma oboInOwl:hasDbXref NCI:C5189 semapv:UnspecifiedMatching DOID:7787 breast osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335149 semapv:UnspecifiedMatching -DOID:7788 adult spinal cord ependymoma oboInOwl:hasDbXref NCI:C27399 semapv:UnspecifiedMatching +DOID:7787 breast osteosarcoma oboInOwl:hasDbXref NCI:C5189 semapv:UnspecifiedMatching DOID:7788 adult spinal cord ependymoma oboInOwl:hasDbXref UMLS_CUI:C1332215 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0032045 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0032962 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref NCI:C35169 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C1335423 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0151864 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref NCI:C34941 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref MESH:D011248 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref NCI:C26857 semapv:UnspecifiedMatching +DOID:7788 adult spinal cord ependymoma oboInOwl:hasDbXref NCI:C27399 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref GARD:7402 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref ICD10CM:O43 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref NCI:C27619 semapv:UnspecifiedMatching -DOID:780 placenta disease oboInOwl:hasDbXref MESH:D010922 semapv:UnspecifiedMatching DOID:780 placenta disease oboInOwl:hasDbXref ICD9CM:646.9 semapv:UnspecifiedMatching -DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref NCI:C27183 semapv:UnspecifiedMatching -DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref UMLS_CUI:C0559185 semapv:UnspecifiedMatching -DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref NCI:C6865 semapv:UnspecifiedMatching -DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref UMLS_CUI:C1333026 semapv:UnspecifiedMatching -DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref NCI:C7990 semapv:UnspecifiedMatching -DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0279695 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref MESH:D010922 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref MESH:D011248 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref NCI:C26857 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref NCI:C27619 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref NCI:C34941 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref NCI:C35169 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0032045 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0032962 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C0151864 semapv:UnspecifiedMatching +DOID:780 placenta disease oboInOwl:hasDbXref UMLS_CUI:C1335423 semapv:UnspecifiedMatching +DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref UMLS_CUI:C0559185 semapv:UnspecifiedMatching +DOID:7806 adult spinal cord glioblastoma multiforme oboInOwl:hasDbXref NCI:C27183 semapv:UnspecifiedMatching +DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref NCI:C6865 semapv:UnspecifiedMatching +DOID:7807 choroid necrotic melanoma oboInOwl:hasDbXref UMLS_CUI:C1333026 semapv:UnspecifiedMatching +DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref NCI:C7990 semapv:UnspecifiedMatching +DOID:7808 necrotic uveal melanoma oboInOwl:hasDbXref UMLS_CUI:C0279695 semapv:UnspecifiedMatching DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma oboInOwl:hasDbXref NCI:C8272 semapv:UnspecifiedMatching DOID:7817 mixed astrocytoma-ependymoma-oligodendroglioma oboInOwl:hasDbXref UMLS_CUI:C0280792 semapv:UnspecifiedMatching -DOID:7818 petroclival meningioma oboInOwl:hasDbXref UMLS_CUI:C1335395 semapv:UnspecifiedMatching DOID:7818 petroclival meningioma oboInOwl:hasDbXref NCI:C5278 semapv:UnspecifiedMatching -DOID:7819 sphenoorbital meningioma oboInOwl:hasDbXref UMLS_CUI:C1336040 semapv:UnspecifiedMatching +DOID:7818 petroclival meningioma oboInOwl:hasDbXref UMLS_CUI:C1335395 semapv:UnspecifiedMatching DOID:7819 sphenoorbital meningioma oboInOwl:hasDbXref NCI:C5285 semapv:UnspecifiedMatching +DOID:7819 sphenoorbital meningioma oboInOwl:hasDbXref UMLS_CUI:C1336040 semapv:UnspecifiedMatching DOID:782 renal infectious disease oboInOwl:hasDbXref ICD10CM:N15.9 semapv:UnspecifiedMatching DOID:782 renal infectious disease oboInOwl:hasDbXref ICD9CM:590 semapv:UnspecifiedMatching DOID:782 renal infectious disease oboInOwl:hasDbXref UMLS_CUI:C0021313 semapv:UnspecifiedMatching -DOID:7820 sphenocavernous meningioma oboInOwl:hasDbXref NCI:C5313 semapv:UnspecifiedMatching DOID:7820 sphenocavernous meningioma oboInOwl:hasDbXref UMLS_CUI:C1336036 semapv:UnspecifiedMatching +DOID:7820 sphenocavernous meningioma oboInOwl:hasDbXref NCI:C5313 semapv:UnspecifiedMatching DOID:7824 spinal multifocal clear cell meningioma oboInOwl:hasDbXref NCI:C5287 semapv:UnspecifiedMatching DOID:7824 spinal multifocal clear cell meningioma oboInOwl:hasDbXref UMLS_CUI:C1336051 semapv:UnspecifiedMatching DOID:7825 chronic toxic polyneuropathy oboInOwl:hasDbXref NCI:C35603 semapv:UnspecifiedMatching DOID:7825 chronic toxic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C1333048 semapv:UnspecifiedMatching DOID:7826 adult papillary meningioma oboInOwl:hasDbXref NCI:C8293 semapv:UnspecifiedMatching DOID:7826 adult papillary meningioma oboInOwl:hasDbXref UMLS_CUI:C0281334 semapv:UnspecifiedMatching -DOID:7827 adult extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278985 semapv:UnspecifiedMatching DOID:7827 adult extraosseous osteosarcoma oboInOwl:hasDbXref NCI:C7925 semapv:UnspecifiedMatching +DOID:7827 adult extraosseous osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C0278985 semapv:UnspecifiedMatching DOID:783 end stage renal disease oboInOwl:hasDbXref ICD9CM:585.6 semapv:UnspecifiedMatching DOID:7839 infiltrating nipple syringomatous adenoma oboInOwl:hasDbXref NCI:C40363 semapv:UnspecifiedMatching DOID:7839 infiltrating nipple syringomatous adenoma oboInOwl:hasDbXref UMLS_CUI:C3839745 semapv:UnspecifiedMatching -DOID:784 chronic kidney disease oboInOwl:hasDbXref ICD10CM:N18.9 semapv:UnspecifiedMatching -DOID:784 chronic kidney disease oboInOwl:hasDbXref ICD9CM:585.6 semapv:UnspecifiedMatching -DOID:784 chronic kidney disease oboInOwl:hasDbXref MESH:D007676 semapv:UnspecifiedMatching DOID:784 chronic kidney disease oboInOwl:hasDbXref NCI:C9438 semapv:UnspecifiedMatching DOID:784 chronic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022661 semapv:UnspecifiedMatching +DOID:784 chronic kidney disease oboInOwl:hasDbXref ICD9CM:585.6 semapv:UnspecifiedMatching +DOID:784 chronic kidney disease oboInOwl:hasDbXref ICD10CM:N18.9 semapv:UnspecifiedMatching +DOID:784 chronic kidney disease oboInOwl:hasDbXref MESH:D007676 semapv:UnspecifiedMatching DOID:7840 pancreatic non-functioning delta cell tumor oboInOwl:hasDbXref NCI:C28333 semapv:UnspecifiedMatching DOID:7840 pancreatic non-functioning delta cell tumor oboInOwl:hasDbXref UMLS_CUI:C1335311 semapv:UnspecifiedMatching DOID:7841 childhood embryonal tumor with multilayered rosettes, C19MC-altered oboInOwl:hasDbXref NCI:C115203 semapv:UnspecifiedMatching DOID:7843 female breast carcinoma oboInOwl:hasDbXref NCI:C2918 semapv:UnspecifiedMatching DOID:7843 female breast carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007104 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1260326 semapv:UnspecifiedMatching -DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref NCI:C9282 semapv:UnspecifiedMatching -DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICDO:9757/3 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching +DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref ICDO:9757/3 semapv:UnspecifiedMatching DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref MESH:D054739 semapv:UnspecifiedMatching -DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching +DOID:7848 interdigitating dendritic cell sarcoma oboInOwl:hasDbXref NCI:C9282 semapv:UnspecifiedMatching DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref NCI:C27260 semapv:UnspecifiedMatching DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref UMLS_CUI:C1301364 semapv:UnspecifiedMatching +DOID:7849 dendritic cell sarcoma oboInOwl:hasDbXref ICD10CM:C96.4 semapv:UnspecifiedMatching DOID:7851 pancreatic intraductal papillary-mucinous adenoma oboInOwl:hasDbXref UMLS_CUI:C1518868 semapv:UnspecifiedMatching -DOID:786 laryngeal disease oboInOwl:hasDbXref ICD10CM:S12.8 semapv:UnspecifiedMatching -DOID:786 laryngeal disease oboInOwl:hasDbXref ICD9CM:478.70 semapv:UnspecifiedMatching -DOID:786 laryngeal disease oboInOwl:hasDbXref MESH:D007818 semapv:UnspecifiedMatching -DOID:786 laryngeal disease oboInOwl:hasDbXref NCI:C26810 semapv:UnspecifiedMatching DOID:786 laryngeal disease oboInOwl:hasDbXref UMLS_CUI:C0023051 semapv:UnspecifiedMatching +DOID:786 laryngeal disease oboInOwl:hasDbXref NCI:C26810 semapv:UnspecifiedMatching +DOID:786 laryngeal disease oboInOwl:hasDbXref MESH:D007818 semapv:UnspecifiedMatching +DOID:786 laryngeal disease oboInOwl:hasDbXref ICD9CM:478.70 semapv:UnspecifiedMatching +DOID:786 laryngeal disease oboInOwl:hasDbXref ICD10CM:S12.8 semapv:UnspecifiedMatching DOID:7867 adult central nervous system germinoma oboInOwl:hasDbXref NCI:C5792 semapv:UnspecifiedMatching DOID:7867 adult central nervous system germinoma oboInOwl:hasDbXref UMLS_CUI:C1370504 semapv:UnspecifiedMatching DOID:7868 maxillary sinus inverted papilloma oboInOwl:hasDbXref NCI:C6840 semapv:UnspecifiedMatching DOID:7868 maxillary sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1334645 semapv:UnspecifiedMatching -DOID:7875 adult xanthogranuloma oboInOwl:hasDbXref UMLS_CUI:C1332220 semapv:UnspecifiedMatching DOID:7875 adult xanthogranuloma oboInOwl:hasDbXref NCI:C27514 semapv:UnspecifiedMatching +DOID:7875 adult xanthogranuloma oboInOwl:hasDbXref UMLS_CUI:C1332220 semapv:UnspecifiedMatching DOID:7878 uterine corpus atypical polypoid adenomyoma oboInOwl:hasDbXref NCI:C40235 semapv:UnspecifiedMatching DOID:7878 uterine corpus atypical polypoid adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1519844 semapv:UnspecifiedMatching DOID:7880 luteoma oboInOwl:hasDbXref ICDO:8610/0 semapv:UnspecifiedMatching DOID:7880 luteoma oboInOwl:hasDbXref NCI:C40445 semapv:UnspecifiedMatching DOID:7880 luteoma oboInOwl:hasDbXref UMLS_CUI:C1517842 semapv:UnspecifiedMatching +DOID:7894 mite infestation oboInOwl:hasDbXref UMLS_CUI:C0026229 semapv:UnspecifiedMatching +DOID:7894 mite infestation oboInOwl:hasDbXref MESH:D008924 semapv:UnspecifiedMatching DOID:7894 mite infestation oboInOwl:hasDbXref ICD10CM:B88.9 semapv:UnspecifiedMatching DOID:7894 mite infestation oboInOwl:hasDbXref ICD9CM:133 semapv:UnspecifiedMatching -DOID:7894 mite infestation oboInOwl:hasDbXref MESH:D008924 semapv:UnspecifiedMatching -DOID:7894 mite infestation oboInOwl:hasDbXref UMLS_CUI:C0026229 semapv:UnspecifiedMatching -DOID:790 ocular hypotension oboInOwl:hasDbXref NCI:C172147 semapv:UnspecifiedMatching -DOID:790 ocular hypotension oboInOwl:hasDbXref MESH:D015814 semapv:UnspecifiedMatching -DOID:790 ocular hypotension oboInOwl:hasDbXref UMLS_CUI:C0028841 semapv:UnspecifiedMatching DOID:790 ocular hypotension oboInOwl:hasDbXref ICD10CM:H44.4 semapv:UnspecifiedMatching DOID:790 ocular hypotension oboInOwl:hasDbXref ICD9CM:360.3 semapv:UnspecifiedMatching +DOID:790 ocular hypotension oboInOwl:hasDbXref MESH:D015814 semapv:UnspecifiedMatching +DOID:790 ocular hypotension oboInOwl:hasDbXref NCI:C172147 semapv:UnspecifiedMatching +DOID:790 ocular hypotension oboInOwl:hasDbXref UMLS_CUI:C0028841 semapv:UnspecifiedMatching DOID:7902 adult extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref NCI:C27378 semapv:UnspecifiedMatching DOID:7902 adult extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1706731 semapv:UnspecifiedMatching DOID:7903 intracranial chondrosarcoma oboInOwl:hasDbXref NCI:C5462 semapv:UnspecifiedMatching @@ -29287,9 +29313,9 @@ DOID:7907 mixed astrocytoma-ependymoma oboInOwl:hasDbXref NCI:C8271 semapv:Unspe DOID:7907 mixed astrocytoma-ependymoma oboInOwl:hasDbXref UMLS_CUI:C0280791 semapv:UnspecifiedMatching DOID:7910 maxillary sinus squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1334647 semapv:UnspecifiedMatching DOID:7910 maxillary sinus squamous cell carcinoma oboInOwl:hasDbXref NCI:C6064 semapv:UnspecifiedMatching +DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280793 semapv:UnspecifiedMatching DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref NCI:C4050 semapv:UnspecifiedMatching -DOID:7912 mixed oligodendroglioma-astrocytoma oboInOwl:hasDbXref UMLS_CUI:C0280793 semapv:UnspecifiedMatching DOID:7915 cervical spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5296 semapv:UnspecifiedMatching DOID:7915 cervical spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1332916 semapv:UnspecifiedMatching DOID:7921 benign mediastinal psammomatous neurilemmoma oboInOwl:hasDbXref NCI:C6636 semapv:UnspecifiedMatching @@ -29301,16 +29327,16 @@ DOID:7927 malignant type A thymoma oboInOwl:hasDbXref NCI:C7999 semapv:Unspecifi DOID:7927 malignant type A thymoma oboInOwl:hasDbXref UMLS_CUI:C0279707 semapv:UnspecifiedMatching DOID:7928 testis refractory cancer oboInOwl:hasDbXref NCI:C9077 semapv:UnspecifiedMatching DOID:7928 testis refractory cancer oboInOwl:hasDbXref UMLS_CUI:C1377904 semapv:UnspecifiedMatching -DOID:7930 glandular-alveolar pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39926 semapv:UnspecifiedMatching DOID:7930 glandular-alveolar pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515305 semapv:UnspecifiedMatching -DOID:7936 refractory T lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8696 semapv:UnspecifiedMatching +DOID:7930 glandular-alveolar pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39926 semapv:UnspecifiedMatching DOID:7936 refractory T lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref UMLS_CUI:C0854859 semapv:UnspecifiedMatching +DOID:7936 refractory T lymphoblastic leukemia/lymphoma oboInOwl:hasDbXref NCI:C8696 semapv:UnspecifiedMatching DOID:7941 Barrett's adenocarcinoma oboInOwl:hasDbXref NCI:C7027 semapv:UnspecifiedMatching DOID:7941 Barrett's adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1332460 semapv:UnspecifiedMatching DOID:7945 adult central nervous system mixed germ cell tumor oboInOwl:hasDbXref NCI:C27402 semapv:UnspecifiedMatching DOID:7945 adult central nervous system mixed germ cell tumor oboInOwl:hasDbXref UMLS_CUI:C1332195 semapv:UnspecifiedMatching -DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1516761 semapv:UnspecifiedMatching DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42060 semapv:UnspecifiedMatching +DOID:7949 stroma-dominant and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1516761 semapv:UnspecifiedMatching DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref NCI:C42059 semapv:UnspecifiedMatching DOID:7951 Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1516760 semapv:UnspecifiedMatching DOID:7953 nipple duct carcinoma oboInOwl:hasDbXref NCI:C27234 semapv:UnspecifiedMatching @@ -29319,228 +29345,228 @@ DOID:7958 sarcomatoid penile squamous cell carcinoma oboInOwl:hasDbXref NCI:C698 DOID:7958 sarcomatoid penile squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335923 semapv:UnspecifiedMatching DOID:7959 duodenal gastrinoma oboInOwl:hasDbXref NCI:C5731 semapv:UnspecifiedMatching DOID:7959 duodenal gastrinoma oboInOwl:hasDbXref UMLS_CUI:C1333321 semapv:UnspecifiedMatching -DOID:7960 malignant spiradenoma oboInOwl:hasDbXref NCI:C5117 semapv:UnspecifiedMatching DOID:7960 malignant spiradenoma oboInOwl:hasDbXref UMLS_CUI:C1266063 semapv:UnspecifiedMatching +DOID:7960 malignant spiradenoma oboInOwl:hasDbXref NCI:C5117 semapv:UnspecifiedMatching DOID:7961 cervical non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref NCI:C40188 semapv:UnspecifiedMatching DOID:7961 cervical non-keratinizing squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518366 semapv:UnspecifiedMatching DOID:7962 tamoxifen-related endometrial lesion oboInOwl:hasDbXref NCI:C40159 semapv:UnspecifiedMatching DOID:7962 tamoxifen-related endometrial lesion oboInOwl:hasDbXref UMLS_CUI:C1515212 semapv:UnspecifiedMatching -DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512738 semapv:UnspecifiedMatching DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39828 semapv:UnspecifiedMatching +DOID:7967 lipid-cell variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512738 semapv:UnspecifiedMatching DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39823 semapv:UnspecifiedMatching DOID:7968 plasmacytoid variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512742 semapv:UnspecifiedMatching DOID:7969 nested variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39819 semapv:UnspecifiedMatching DOID:7969 nested variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512741 semapv:UnspecifiedMatching DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39820 semapv:UnspecifiedMatching DOID:7971 microcystic variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512740 semapv:UnspecifiedMatching -DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512739 semapv:UnspecifiedMatching DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref NCI:C39822 semapv:UnspecifiedMatching -DOID:7983 breast malignant eccrine spiradenoma oboInOwl:hasDbXref NCI:C5180 semapv:UnspecifiedMatching +DOID:7972 lymphoma-like variant infiltrating bladder urothelial carcinoma oboInOwl:hasDbXref UMLS_CUI:C1512739 semapv:UnspecifiedMatching DOID:7983 breast malignant eccrine spiradenoma oboInOwl:hasDbXref UMLS_CUI:C1334565 semapv:UnspecifiedMatching +DOID:7983 breast malignant eccrine spiradenoma oboInOwl:hasDbXref NCI:C5180 semapv:UnspecifiedMatching DOID:7984 sclerosing breast papilloma oboInOwl:hasDbXref NCI:C27944 semapv:UnspecifiedMatching DOID:7984 sclerosing breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1335932 semapv:UnspecifiedMatching DOID:7986 cerebral falx meningioma oboInOwl:hasDbXref NCI:C5267 semapv:UnspecifiedMatching DOID:7986 cerebral falx meningioma oboInOwl:hasDbXref UMLS_CUI:C1333597 semapv:UnspecifiedMatching -DOID:799 varicose veins oboInOwl:hasDbXref OMIM:192200 semapv:UnspecifiedMatching -DOID:799 varicose veins oboInOwl:hasDbXref UMLS_CUI:C0042345 semapv:UnspecifiedMatching -DOID:799 varicose veins oboInOwl:hasDbXref MESH:D014648 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref ICD10CM:I83.90 semapv:UnspecifiedMatching +DOID:799 varicose veins oboInOwl:hasDbXref MESH:D014648 semapv:UnspecifiedMatching DOID:799 varicose veins oboInOwl:hasDbXref NCI:C35114 semapv:UnspecifiedMatching +DOID:799 varicose veins oboInOwl:hasDbXref OMIM:192200 semapv:UnspecifiedMatching +DOID:799 varicose veins oboInOwl:hasDbXref UMLS_CUI:C0042345 semapv:UnspecifiedMatching DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref NCI:C7002 semapv:UnspecifiedMatching DOID:7994 central nervous system osteosarcoma oboInOwl:hasDbXref UMLS_CUI:C1335150 semapv:UnspecifiedMatching DOID:7996 familial glomangioma oboInOwl:hasDbXref NCI:C5350 semapv:UnspecifiedMatching DOID:7996 familial glomangioma oboInOwl:hasDbXref UMLS_CUI:C1333987 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref UMLS_CUI:C0040156 semapv:UnspecifiedMatching -DOID:7997 thyrotoxicosis oboInOwl:hasDbXref ICD10CM:E05.9 semapv:UnspecifiedMatching +DOID:7997 thyrotoxicosis oboInOwl:hasDbXref NCI:C61469 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref ICD9CM:242 semapv:UnspecifiedMatching +DOID:7997 thyrotoxicosis oboInOwl:hasDbXref ICD10CM:E05.9 semapv:UnspecifiedMatching DOID:7997 thyrotoxicosis oboInOwl:hasDbXref MESH:D013971 semapv:UnspecifiedMatching -DOID:7997 thyrotoxicosis oboInOwl:hasDbXref NCI:C61469 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS_CUI:C3714618 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism oboInOwl:hasDbXref NCI:C113145 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism skos:exactMatch MESH:D006980 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS_CUI:C0020550 semapv:UnspecifiedMatching -DOID:7998 hyperthyroidism oboInOwl:hasDbXref MESH:D006980 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism oboInOwl:hasDbXref ICD10CM:E05.9 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism oboInOwl:hasDbXref MESH:D006980 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism oboInOwl:hasDbXref NCI:C113145 semapv:UnspecifiedMatching DOID:7998 hyperthyroidism oboInOwl:hasDbXref NCI:C3123 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS_CUI:C0020550 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism oboInOwl:hasDbXref UMLS_CUI:C3714618 semapv:UnspecifiedMatching +DOID:7998 hyperthyroidism skos:exactMatch MESH:D006980 semapv:UnspecifiedMatching DOID:8000 frontal convexity meningioma oboInOwl:hasDbXref NCI:C5292 semapv:UnspecifiedMatching DOID:8000 frontal convexity meningioma oboInOwl:hasDbXref UMLS_CUI:C1333643 semapv:UnspecifiedMatching DOID:8002 supraglottis neoplasm oboInOwl:hasDbXref NCI:C6793 semapv:UnspecifiedMatching DOID:8002 supraglottis neoplasm oboInOwl:hasDbXref UMLS_CUI:C0345726 semapv:UnspecifiedMatching -DOID:8003 alveoli adenoma oboInOwl:hasDbXref NCI:C4140 semapv:UnspecifiedMatching DOID:8003 alveoli adenoma oboInOwl:hasDbXref UMLS_CUI:C0334303 semapv:UnspecifiedMatching +DOID:8003 alveoli adenoma oboInOwl:hasDbXref NCI:C4140 semapv:UnspecifiedMatching DOID:8006 skin meningioma oboInOwl:hasDbXref NCI:C5277 semapv:UnspecifiedMatching DOID:8006 skin meningioma oboInOwl:hasDbXref UMLS_CUI:C1335481 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref MESH:D010178 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C27710 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C55815 semapv:UnspecifiedMatching DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C7527 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C1335574 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C0549471 semapv:UnspecifiedMatching DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C0030271 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C55815 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref NCI:C27710 semapv:UnspecifiedMatching -DOID:8007 Pancoast tumor oboInOwl:hasDbXref MESH:D010178 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C0549471 semapv:UnspecifiedMatching +DOID:8007 Pancoast tumor oboInOwl:hasDbXref UMLS_CUI:C1335574 semapv:UnspecifiedMatching DOID:8009 penis mixed squamous cell carcinoma oboInOwl:hasDbXref NCI:C39959 semapv:UnspecifiedMatching DOID:8009 penis mixed squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1513369 semapv:UnspecifiedMatching -DOID:801 hemarthrosis oboInOwl:hasDbXref ICD10CM:M25.0 semapv:UnspecifiedMatching -DOID:801 hemarthrosis oboInOwl:hasDbXref ICD9CM:719.1 semapv:UnspecifiedMatching DOID:801 hemarthrosis oboInOwl:hasDbXref MESH:D006395 semapv:UnspecifiedMatching DOID:801 hemarthrosis oboInOwl:hasDbXref UMLS_CUI:C0018924 semapv:UnspecifiedMatching -DOID:8012 benign pericardial teratoma oboInOwl:hasDbXref NCI:C6744 semapv:UnspecifiedMatching +DOID:801 hemarthrosis oboInOwl:hasDbXref ICD10CM:M25.0 semapv:UnspecifiedMatching +DOID:801 hemarthrosis oboInOwl:hasDbXref ICD9CM:719.1 semapv:UnspecifiedMatching DOID:8012 benign pericardial teratoma oboInOwl:hasDbXref UMLS_CUI:C1334638 semapv:UnspecifiedMatching +DOID:8012 benign pericardial teratoma oboInOwl:hasDbXref NCI:C6744 semapv:UnspecifiedMatching DOID:8013 penis papillary carcinoma oboInOwl:hasDbXref NCI:C6983 semapv:UnspecifiedMatching DOID:8013 penis papillary carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335322 semapv:UnspecifiedMatching -DOID:8020 glomangiomyoma oboInOwl:hasDbXref NCI:C4223 semapv:UnspecifiedMatching DOID:8020 glomangiomyoma oboInOwl:hasDbXref ICDO:8713/0 semapv:UnspecifiedMatching +DOID:8020 glomangiomyoma oboInOwl:hasDbXref NCI:C4223 semapv:UnspecifiedMatching DOID:8020 glomangiomyoma oboInOwl:hasDbXref UMLS_CUI:C0334422 semapv:UnspecifiedMatching -DOID:8022 liver fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333966 semapv:UnspecifiedMatching DOID:8022 liver fibrosarcoma oboInOwl:hasDbXref NCI:C5832 semapv:UnspecifiedMatching +DOID:8022 liver fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C1333966 semapv:UnspecifiedMatching DOID:8023 myxoid liposarcoma of the ovary oboInOwl:hasDbXref NCI:C5235 semapv:UnspecifiedMatching DOID:8023 myxoid liposarcoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1335170 semapv:UnspecifiedMatching DOID:8025 gastric signet ring cell adenocarcinoma oboInOwl:hasDbXref NCI:C5250 semapv:UnspecifiedMatching DOID:8025 gastric signet ring cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335965 semapv:UnspecifiedMatching DOID:8029 sporadic breast cancer oboInOwl:hasDbXref NCI:C7566 semapv:UnspecifiedMatching DOID:8029 sporadic breast cancer oboInOwl:hasDbXref UMLS_CUI:C1336076 semapv:UnspecifiedMatching -DOID:8030 periocular meningioma oboInOwl:hasDbXref NCI:C6777 semapv:UnspecifiedMatching DOID:8030 periocular meningioma oboInOwl:hasDbXref UMLS_CUI:C1335383 semapv:UnspecifiedMatching +DOID:8030 periocular meningioma oboInOwl:hasDbXref NCI:C6777 semapv:UnspecifiedMatching DOID:8031 pineal region meningioma oboInOwl:hasDbXref NCI:C6756 semapv:UnspecifiedMatching DOID:8031 pineal region meningioma oboInOwl:hasDbXref UMLS_CUI:C1335418 semapv:UnspecifiedMatching DOID:8036 childhood ovarian embryonal carcinoma oboInOwl:hasDbXref NCI:C6546 semapv:UnspecifiedMatching DOID:8036 childhood ovarian embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1332989 semapv:UnspecifiedMatching -DOID:8042 testis polyembryoma oboInOwl:hasDbXref UMLS_CUI:C1514200 semapv:UnspecifiedMatching DOID:8042 testis polyembryoma oboInOwl:hasDbXref NCI:C40962 semapv:UnspecifiedMatching +DOID:8042 testis polyembryoma oboInOwl:hasDbXref UMLS_CUI:C1514200 semapv:UnspecifiedMatching DOID:8043 chest wall parachordoma oboInOwl:hasDbXref NCI:C6720 semapv:UnspecifiedMatching DOID:8043 chest wall parachordoma oboInOwl:hasDbXref UMLS_CUI:C1332934 semapv:UnspecifiedMatching DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C39847 semapv:UnspecifiedMatching DOID:8050 bladder tubulo-cystic clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511203 semapv:UnspecifiedMatching DOID:8051 bladder papillary clear cell adenocarcinoma oboInOwl:hasDbXref NCI:C39848 semapv:UnspecifiedMatching DOID:8051 bladder papillary clear cell adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511196 semapv:UnspecifiedMatching -DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref NCI:C6771 semapv:UnspecifiedMatching +DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref MESH:D008579 semapv:UnspecifiedMatching DOID:8057 olfactory groove meningioma oboInOwl:hasDbXref UMLS_CUI:C1335107 semapv:UnspecifiedMatching -DOID:8058 pituitary stalk meningioma oboInOwl:hasDbXref NCI:C5311 semapv:UnspecifiedMatching DOID:8058 pituitary stalk meningioma oboInOwl:hasDbXref UMLS_CUI:C1335422 semapv:UnspecifiedMatching +DOID:8058 pituitary stalk meningioma oboInOwl:hasDbXref NCI:C5311 semapv:UnspecifiedMatching DOID:8060 frontal sinus inverted papilloma oboInOwl:hasDbXref NCI:C6842 semapv:UnspecifiedMatching DOID:8060 frontal sinus inverted papilloma oboInOwl:hasDbXref UMLS_CUI:C1333644 semapv:UnspecifiedMatching DOID:8068 intraductal breast myoepitheliosis oboInOwl:hasDbXref NCI:C40387 semapv:UnspecifiedMatching DOID:8068 intraductal breast myoepitheliosis oboInOwl:hasDbXref UMLS_CUI:C1512935 semapv:UnspecifiedMatching -DOID:807 carotid artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0375275 semapv:UnspecifiedMatching DOID:807 carotid artery occlusion oboInOwl:hasDbXref ICD9CM:433.10 semapv:UnspecifiedMatching +DOID:807 carotid artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0375275 semapv:UnspecifiedMatching DOID:8072 sarcomatous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref NCI:C41620 semapv:UnspecifiedMatching DOID:8072 sarcomatous intrahepatic cholangiocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1519184 semapv:UnspecifiedMatching DOID:8078 childhood central nervous system germinoma oboInOwl:hasDbXref NCI:C27406 semapv:UnspecifiedMatching DOID:8078 childhood central nervous system germinoma oboInOwl:hasDbXref UMLS_CUI:C1332953 semapv:UnspecifiedMatching DOID:8081 myxomatous pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39929 semapv:UnspecifiedMatching DOID:8081 myxomatous pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515309 semapv:UnspecifiedMatching -DOID:8082 cellular congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C39815 semapv:UnspecifiedMatching DOID:8082 cellular congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS_CUI:C1516474 semapv:UnspecifiedMatching -DOID:8083 classic congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C39814 semapv:UnspecifiedMatching +DOID:8082 cellular congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C39815 semapv:UnspecifiedMatching DOID:8083 classic congenital mesoblastic nephroma oboInOwl:hasDbXref UMLS_CUI:C1516475 semapv:UnspecifiedMatching -DOID:809 cocaine abuse oboInOwl:hasDbXref UMLS_CUI:C0009171 semapv:UnspecifiedMatching +DOID:8083 classic congenital mesoblastic nephroma oboInOwl:hasDbXref NCI:C39814 semapv:UnspecifiedMatching DOID:809 cocaine abuse oboInOwl:hasDbXref ICD10CM:F14.1 semapv:UnspecifiedMatching DOID:809 cocaine abuse oboInOwl:hasDbXref ICD9CM:305.6 semapv:UnspecifiedMatching DOID:809 cocaine abuse oboInOwl:hasDbXref MESH:D019970 semapv:UnspecifiedMatching -DOID:8093 maxillary sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1334646 semapv:UnspecifiedMatching +DOID:809 cocaine abuse oboInOwl:hasDbXref UMLS_CUI:C0009171 semapv:UnspecifiedMatching DOID:8093 maxillary sinus Schneiderian papilloma oboInOwl:hasDbXref NCI:C6839 semapv:UnspecifiedMatching +DOID:8093 maxillary sinus Schneiderian papilloma oboInOwl:hasDbXref UMLS_CUI:C1334646 semapv:UnspecifiedMatching DOID:8096 bladder mixed adenocarcinoma oboInOwl:hasDbXref NCI:C39839 semapv:UnspecifiedMatching DOID:8096 bladder mixed adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511192 semapv:UnspecifiedMatching DOID:8097 bladder hepatoid adenocarcinoma oboInOwl:hasDbXref NCI:C39838 semapv:UnspecifiedMatching DOID:8097 bladder hepatoid adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1511189 semapv:UnspecifiedMatching DOID:8102 fetal adenoma oboInOwl:hasDbXref NCI:C4160 semapv:UnspecifiedMatching DOID:8102 fetal adenoma oboInOwl:hasDbXref UMLS_CUI:C0334328 semapv:UnspecifiedMatching -DOID:8104 vaginal tubulovillous adenoma oboInOwl:hasDbXref NCI:C40258 semapv:UnspecifiedMatching DOID:8104 vaginal tubulovillous adenoma oboInOwl:hasDbXref UMLS_CUI:C1519933 semapv:UnspecifiedMatching -DOID:8105 extrahepatic bile duct cystadenoma oboInOwl:hasDbXref NCI:C5851 semapv:UnspecifiedMatching +DOID:8104 vaginal tubulovillous adenoma oboInOwl:hasDbXref NCI:C40258 semapv:UnspecifiedMatching DOID:8105 extrahepatic bile duct cystadenoma oboInOwl:hasDbXref UMLS_CUI:C1333504 semapv:UnspecifiedMatching +DOID:8105 extrahepatic bile duct cystadenoma oboInOwl:hasDbXref NCI:C5851 semapv:UnspecifiedMatching DOID:8106 cellular phase chronic idiopathic myelofibrosis oboInOwl:hasDbXref NCI:C41237 semapv:UnspecifiedMatching DOID:8106 cellular phase chronic idiopathic myelofibrosis oboInOwl:hasDbXref UMLS_CUI:C1516553 semapv:UnspecifiedMatching -DOID:8108 fibroepithelial polyp of urethra oboInOwl:hasDbXref UMLS_CUI:C1336884 semapv:UnspecifiedMatching DOID:8108 fibroepithelial polyp of urethra oboInOwl:hasDbXref NCI:C6170 semapv:UnspecifiedMatching -DOID:8109 nephrogenic adenoma of the urethra oboInOwl:hasDbXref UMLS_CUI:C1336889 semapv:UnspecifiedMatching +DOID:8108 fibroepithelial polyp of urethra oboInOwl:hasDbXref UMLS_CUI:C1336884 semapv:UnspecifiedMatching DOID:8109 nephrogenic adenoma of the urethra oboInOwl:hasDbXref NCI:C7416 semapv:UnspecifiedMatching -DOID:811 lipodystrophy oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching -DOID:811 lipodystrophy oboInOwl:hasDbXref ICD9CM:272.6 semapv:UnspecifiedMatching -DOID:811 lipodystrophy oboInOwl:hasDbXref MESH:D008060 semapv:UnspecifiedMatching -DOID:811 lipodystrophy oboInOwl:hasDbXref NCI:C97093 semapv:UnspecifiedMatching +DOID:8109 nephrogenic adenoma of the urethra oboInOwl:hasDbXref UMLS_CUI:C1336889 semapv:UnspecifiedMatching DOID:811 lipodystrophy oboInOwl:hasDbXref UMLS_CUI:C0023787 semapv:UnspecifiedMatching +DOID:811 lipodystrophy oboInOwl:hasDbXref NCI:C97093 semapv:UnspecifiedMatching +DOID:811 lipodystrophy oboInOwl:hasDbXref MESH:D008060 semapv:UnspecifiedMatching +DOID:811 lipodystrophy oboInOwl:hasDbXref ICD9CM:272.6 semapv:UnspecifiedMatching +DOID:811 lipodystrophy oboInOwl:hasDbXref ICD10CM:E88.1 semapv:UnspecifiedMatching DOID:8110 periampullary adenocarcinoma oboInOwl:hasDbXref NCI:C27322 semapv:UnspecifiedMatching DOID:8110 periampullary adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1335377 semapv:UnspecifiedMatching -DOID:8117 neuronitis oboInOwl:hasDbXref UMLS_CUI:C0027881 semapv:UnspecifiedMatching DOID:8117 neuronitis oboInOwl:hasDbXref NCI:C34847 semapv:UnspecifiedMatching +DOID:8117 neuronitis oboInOwl:hasDbXref UMLS_CUI:C0027881 semapv:UnspecifiedMatching DOID:8118 mature gastric teratoma oboInOwl:hasDbXref NCI:C5260 semapv:UnspecifiedMatching DOID:8118 mature gastric teratoma oboInOwl:hasDbXref UMLS_CUI:C1334635 semapv:UnspecifiedMatching -DOID:8119 anal canal Paget's disease oboInOwl:hasDbXref NCI:C7477 semapv:UnspecifiedMatching DOID:8119 anal canal Paget's disease oboInOwl:hasDbXref UMLS_CUI:C1332261 semapv:UnspecifiedMatching +DOID:8119 anal canal Paget's disease oboInOwl:hasDbXref NCI:C7477 semapv:UnspecifiedMatching DOID:8122 pseudovascular skin squamous cell carcinoma oboInOwl:hasDbXref NCI:C27542 semapv:UnspecifiedMatching DOID:8122 pseudovascular skin squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335974 semapv:UnspecifiedMatching -DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS_CUI:C0029429 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS_CUI:C0158445 semapv:UnspecifiedMatching -DOID:8125 osteochondrosis oboInOwl:hasDbXref NCI:C34879 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD10CM:M92 semapv:UnspecifiedMatching -DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD9CM:732.6 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD10CM:M93.9 semapv:UnspecifiedMatching +DOID:8125 osteochondrosis oboInOwl:hasDbXref ICD9CM:732.6 semapv:UnspecifiedMatching DOID:8125 osteochondrosis oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching +DOID:8125 osteochondrosis oboInOwl:hasDbXref NCI:C34879 semapv:UnspecifiedMatching +DOID:8125 osteochondrosis oboInOwl:hasDbXref UMLS_CUI:C0029429 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0003869 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157843 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157844 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157845 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref NCI:C26700 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157849 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157848 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157847 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157848 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157849 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157846 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157845 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157844 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0157843 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref UMLS_CUI:C0003869 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref MESH:D001170 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.90 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.96 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.95 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.94 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.93 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.92 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.91 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.90 semapv:UnspecifiedMatching +DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.97 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref ICD10CM:M00 semapv:UnspecifiedMatching DOID:813 septic arthritis oboInOwl:hasDbXref GARD:6781 semapv:UnspecifiedMatching -DOID:813 septic arthritis oboInOwl:hasDbXref ICD9CM:711.97 semapv:UnspecifiedMatching -DOID:8130 breast columnar cell mucinous carcinoma oboInOwl:hasDbXref NCI:C40355 semapv:UnspecifiedMatching DOID:8130 breast columnar cell mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1511305 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref NCI:C35697 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C1112382 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0585946 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0496765 semapv:UnspecifiedMatching -DOID:8133 epiglottis cancer oboInOwl:hasDbXref ICD9CM:146.4 semapv:UnspecifiedMatching +DOID:8130 breast columnar cell mucinous carcinoma oboInOwl:hasDbXref NCI:C40355 semapv:UnspecifiedMatching DOID:8133 epiglottis cancer oboInOwl:hasDbXref ICD10CM:C10.1 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref ICD9CM:146.4 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref NCI:C35697 semapv:UnspecifiedMatching DOID:8133 epiglottis cancer oboInOwl:hasDbXref NCI:C4836 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0496765 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C0585946 semapv:UnspecifiedMatching +DOID:8133 epiglottis cancer oboInOwl:hasDbXref UMLS_CUI:C1112382 semapv:UnspecifiedMatching DOID:8135 gallbladder lymphoma oboInOwl:hasDbXref NCI:C5734 semapv:UnspecifiedMatching DOID:8135 gallbladder lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333748 semapv:UnspecifiedMatching DOID:8137 thymus clear cell carcinoma oboInOwl:hasDbXref NCI:C6462 semapv:UnspecifiedMatching DOID:8137 thymus clear cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333069 semapv:UnspecifiedMatching -DOID:8138 thymus sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C6463 semapv:UnspecifiedMatching DOID:8138 thymus sarcomatoid carcinoma oboInOwl:hasDbXref UMLS_CUI:C1335924 semapv:UnspecifiedMatching +DOID:8138 thymus sarcomatoid carcinoma oboInOwl:hasDbXref NCI:C6463 semapv:UnspecifiedMatching DOID:8140 adrenal gland ganglioneuroblastoma oboInOwl:hasDbXref NCI:C7646 semapv:UnspecifiedMatching DOID:8140 adrenal gland ganglioneuroblastoma oboInOwl:hasDbXref UMLS_CUI:C1332176 semapv:UnspecifiedMatching DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref NCI:C37204 semapv:UnspecifiedMatching DOID:8144 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma oboInOwl:hasDbXref UMLS_CUI:C1333038 semapv:UnspecifiedMatching -DOID:8149 malignant childhood germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334574 semapv:UnspecifiedMatching DOID:8149 malignant childhood germ cell neoplasm oboInOwl:hasDbXref NCI:C6541 semapv:UnspecifiedMatching -DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518871 semapv:UnspecifiedMatching +DOID:8149 malignant childhood germ cell neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334574 semapv:UnspecifiedMatching DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref NCI:C5726 semapv:UnspecifiedMatching +DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1518871 semapv:UnspecifiedMatching DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref NCI:C27445 semapv:UnspecifiedMatching DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor oboInOwl:hasDbXref UMLS_CUI:C3274138 semapv:UnspecifiedMatching DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref NCI:C6573 semapv:UnspecifiedMatching DOID:8153 fibroosseous pseudotumor of digits oboInOwl:hasDbXref UMLS_CUI:C1333612 semapv:UnspecifiedMatching +DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching +DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref MESH:C537005 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref NCI:C9469 semapv:UnspecifiedMatching -DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching -DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref MESH:C536913 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref NCI:C4946 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C0749424 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref NCI:C6042 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref UMLS_CUI:C1336750 semapv:UnspecifiedMatching -DOID:8167 gallbladder melanoma oboInOwl:hasDbXref UMLS_CUI:C1333749 semapv:UnspecifiedMatching DOID:8167 gallbladder melanoma oboInOwl:hasDbXref NCI:C5735 semapv:UnspecifiedMatching -DOID:817 interstitial myocarditis oboInOwl:hasDbXref NCI:C35786 semapv:UnspecifiedMatching +DOID:8167 gallbladder melanoma oboInOwl:hasDbXref UMLS_CUI:C1333749 semapv:UnspecifiedMatching DOID:817 interstitial myocarditis oboInOwl:hasDbXref UMLS_CUI:C0027060 semapv:UnspecifiedMatching +DOID:817 interstitial myocarditis oboInOwl:hasDbXref NCI:C35786 semapv:UnspecifiedMatching DOID:8170 fibroepithelial polyp of the anus oboInOwl:hasDbXref NCI:C5604 semapv:UnspecifiedMatching -DOID:8177 endocervical type cervical adenomyoma oboInOwl:hasDbXref NCI:C40232 semapv:UnspecifiedMatching DOID:8177 endocervical type cervical adenomyoma oboInOwl:hasDbXref UMLS_CUI:C1516405 semapv:UnspecifiedMatching +DOID:8177 endocervical type cervical adenomyoma oboInOwl:hasDbXref NCI:C40232 semapv:UnspecifiedMatching DOID:8178 endometrial type cervical adenomyoma oboInOwl:hasDbXref NCI:C40233 semapv:UnspecifiedMatching DOID:8178 endometrial type cervical adenomyoma oboInOwl:hasDbXref UMLS_CUI:C5557432 semapv:UnspecifiedMatching DOID:8179 cervical atypical polypoid adenomyoma oboInOwl:hasDbXref NCI:C40234 semapv:UnspecifiedMatching @@ -29549,31 +29575,31 @@ DOID:8186 fallopian tube gestational choriocarcinoma oboInOwl:hasDbXref NCI:C627 DOID:8186 fallopian tube gestational choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333593 semapv:UnspecifiedMatching DOID:8188 uterine corpus choriocarcinoma oboInOwl:hasDbXref NCI:C27246 semapv:UnspecifiedMatching DOID:8188 uterine corpus choriocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1336904 semapv:UnspecifiedMatching -DOID:819 mediastinitis oboInOwl:hasDbXref UMLS_CUI:C0025064 semapv:UnspecifiedMatching -DOID:819 mediastinitis oboInOwl:hasDbXref NCI:C26827 semapv:UnspecifiedMatching -DOID:819 mediastinitis oboInOwl:hasDbXref ICD9CM:519.2 semapv:UnspecifiedMatching DOID:819 mediastinitis oboInOwl:hasDbXref ICD10CM:J98.51 semapv:UnspecifiedMatching +DOID:819 mediastinitis oboInOwl:hasDbXref ICD9CM:519.2 semapv:UnspecifiedMatching DOID:819 mediastinitis oboInOwl:hasDbXref MESH:D008480 semapv:UnspecifiedMatching -DOID:8193 papillary pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39928 semapv:UnspecifiedMatching +DOID:819 mediastinitis oboInOwl:hasDbXref NCI:C26827 semapv:UnspecifiedMatching +DOID:819 mediastinitis oboInOwl:hasDbXref UMLS_CUI:C0025064 semapv:UnspecifiedMatching DOID:8193 papillary pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515310 semapv:UnspecifiedMatching +DOID:8193 papillary pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39928 semapv:UnspecifiedMatching DOID:8195 hepatoid pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39931 semapv:UnspecifiedMatching DOID:8195 hepatoid pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515306 semapv:UnspecifiedMatching DOID:82 myotonic cataract oboInOwl:hasDbXref ICD9CM:366.43 semapv:UnspecifiedMatching DOID:82 myotonic cataract oboInOwl:hasDbXref NCI:C34833 semapv:UnspecifiedMatching DOID:82 myotonic cataract oboInOwl:hasDbXref UMLS_CUI:C0027128 semapv:UnspecifiedMatching -DOID:820 myocarditis oboInOwl:hasDbXref NCI:C34831 semapv:UnspecifiedMatching -DOID:820 myocarditis skos:exactMatch MESH:D009205 semapv:UnspecifiedMatching -DOID:820 myocarditis oboInOwl:hasDbXref UMLS_CUI:C0027059 semapv:UnspecifiedMatching -DOID:820 myocarditis oboInOwl:hasDbXref MESH:D009205 semapv:UnspecifiedMatching -DOID:820 myocarditis oboInOwl:hasDbXref ICD9CM:429.0 semapv:UnspecifiedMatching -DOID:820 myocarditis oboInOwl:hasDbXref ICD10CM:I51.4 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref GARD:7137 semapv:UnspecifiedMatching +DOID:820 myocarditis oboInOwl:hasDbXref ICD10CM:I51.4 semapv:UnspecifiedMatching +DOID:820 myocarditis oboInOwl:hasDbXref ICD9CM:429.0 semapv:UnspecifiedMatching DOID:820 myocarditis oboInOwl:hasDbXref KEGG:05416 semapv:UnspecifiedMatching -DOID:8200 tertiary syphilis oboInOwl:hasDbXref ICD10CM:A52 semapv:UnspecifiedMatching -DOID:8200 tertiary syphilis oboInOwl:hasDbXref ICD9CM:097.0 semapv:UnspecifiedMatching -DOID:8200 tertiary syphilis oboInOwl:hasDbXref MESH:C536774 semapv:UnspecifiedMatching +DOID:820 myocarditis oboInOwl:hasDbXref MESH:D009205 semapv:UnspecifiedMatching +DOID:820 myocarditis oboInOwl:hasDbXref NCI:C34831 semapv:UnspecifiedMatching +DOID:820 myocarditis oboInOwl:hasDbXref UMLS_CUI:C0027059 semapv:UnspecifiedMatching +DOID:820 myocarditis skos:exactMatch MESH:D009205 semapv:UnspecifiedMatching DOID:8200 tertiary syphilis oboInOwl:hasDbXref NCI:C128414 semapv:UnspecifiedMatching +DOID:8200 tertiary syphilis oboInOwl:hasDbXref MESH:C536774 semapv:UnspecifiedMatching DOID:8200 tertiary syphilis oboInOwl:hasDbXref UMLS_CUI:C0153188 semapv:UnspecifiedMatching +DOID:8200 tertiary syphilis oboInOwl:hasDbXref ICD10CM:A52 semapv:UnspecifiedMatching +DOID:8200 tertiary syphilis oboInOwl:hasDbXref ICD9CM:097.0 semapv:UnspecifiedMatching DOID:8203 sacral spinal canal and spinal cord meningioma oboInOwl:hasDbXref NCI:C5299 semapv:UnspecifiedMatching DOID:8203 sacral spinal canal and spinal cord meningioma oboInOwl:hasDbXref UMLS_CUI:C1335893 semapv:UnspecifiedMatching DOID:8207 hilar lung carcinoma oboInOwl:hasDbXref NCI:C7454 semapv:UnspecifiedMatching @@ -29582,46 +29608,46 @@ DOID:8208 lung superior sulcus carcinoma oboInOwl:hasDbXref NCI:C7779 semapv:Uns DOID:8208 lung superior sulcus carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336529 semapv:UnspecifiedMatching DOID:8211 fallopian tube cystadenofibroma oboInOwl:hasDbXref NCI:C40114 semapv:UnspecifiedMatching DOID:8211 fallopian tube cystadenofibroma oboInOwl:hasDbXref UMLS_CUI:C1517111 semapv:UnspecifiedMatching -DOID:8216 parapharyngeal meningioma oboInOwl:hasDbXref UMLS_CUI:C5421232 semapv:UnspecifiedMatching DOID:8216 parapharyngeal meningioma oboInOwl:hasDbXref NCI:C5303 semapv:UnspecifiedMatching +DOID:8216 parapharyngeal meningioma oboInOwl:hasDbXref UMLS_CUI:C5421232 semapv:UnspecifiedMatching DOID:8221 upper clivus meningioma oboInOwl:hasDbXref NCI:C5290 semapv:UnspecifiedMatching DOID:8221 upper clivus meningioma oboInOwl:hasDbXref UMLS_CUI:C1336871 semapv:UnspecifiedMatching DOID:8223 penile urethral cancer oboInOwl:hasDbXref NCI:C39868 semapv:UnspecifiedMatching DOID:8223 penile urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1518950 semapv:UnspecifiedMatching -DOID:8224 central breast papilloma oboInOwl:hasDbXref NCI:C36087 semapv:UnspecifiedMatching DOID:8224 central breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1332896 semapv:UnspecifiedMatching -DOID:8225 microscopic breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1335390 semapv:UnspecifiedMatching +DOID:8224 central breast papilloma oboInOwl:hasDbXref NCI:C36087 semapv:UnspecifiedMatching DOID:8225 microscopic breast papilloma oboInOwl:hasDbXref NCI:C36088 semapv:UnspecifiedMatching +DOID:8225 microscopic breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1335390 semapv:UnspecifiedMatching DOID:8227 atypical breast papilloma oboInOwl:hasDbXref NCI:C36089 semapv:UnspecifiedMatching DOID:8227 atypical breast papilloma oboInOwl:hasDbXref UMLS_CUI:C1332346 semapv:UnspecifiedMatching DOID:823 periapical periodontitis oboInOwl:hasDbXref ICD10CM:K04.5 semapv:UnspecifiedMatching DOID:823 periapical periodontitis oboInOwl:hasDbXref MESH:D010485 semapv:UnspecifiedMatching DOID:823 periapical periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031030 semapv:UnspecifiedMatching -DOID:8230 intrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334258 semapv:UnspecifiedMatching DOID:8230 intrahepatic biliary papillomatosis oboInOwl:hasDbXref NCI:C7125 semapv:UnspecifiedMatching -DOID:8233 inflammatory liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1370890 semapv:UnspecifiedMatching +DOID:8230 intrahepatic biliary papillomatosis oboInOwl:hasDbXref UMLS_CUI:C1334258 semapv:UnspecifiedMatching DOID:8233 inflammatory liposarcoma oboInOwl:hasDbXref NCI:C6508 semapv:UnspecifiedMatching +DOID:8233 inflammatory liposarcoma oboInOwl:hasDbXref UMLS_CUI:C1370890 semapv:UnspecifiedMatching DOID:8239 lower clivus meningioma oboInOwl:hasDbXref NCI:C5288 semapv:UnspecifiedMatching DOID:8239 lower clivus meningioma oboInOwl:hasDbXref UMLS_CUI:C1334434 semapv:UnspecifiedMatching -DOID:824 periodontitis oboInOwl:hasDbXref EFO:0000649 semapv:UnspecifiedMatching +DOID:824 periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031099 semapv:UnspecifiedMatching +DOID:824 periodontitis oboInOwl:hasDbXref NCI:C34918 semapv:UnspecifiedMatching DOID:824 periodontitis oboInOwl:hasDbXref ICD10CM:K05.3 semapv:UnspecifiedMatching +DOID:824 periodontitis oboInOwl:hasDbXref EFO:0000649 semapv:UnspecifiedMatching DOID:824 periodontitis oboInOwl:hasDbXref MESH:D010518 semapv:UnspecifiedMatching -DOID:824 periodontitis oboInOwl:hasDbXref NCI:C34918 semapv:UnspecifiedMatching -DOID:824 periodontitis oboInOwl:hasDbXref UMLS_CUI:C0031099 semapv:UnspecifiedMatching DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref ICDO:8728/3 semapv:UnspecifiedMatching DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref NCI:C6891 semapv:UnspecifiedMatching DOID:8243 meningeal melanomatosis oboInOwl:hasDbXref UMLS_CUI:C1266114 semapv:UnspecifiedMatching DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref ICDO:8901/3 semapv:UnspecifiedMatching DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref NCI:C27369 semapv:UnspecifiedMatching DOID:8251 adult pleomorphic rhabdomyosarcoma oboInOwl:hasDbXref UMLS_CUI:C1332211 semapv:UnspecifiedMatching -DOID:8252 chronic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0008711 semapv:UnspecifiedMatching -DOID:8252 chronic rhinitis oboInOwl:hasDbXref NCI:C34479 semapv:UnspecifiedMatching -DOID:8252 chronic rhinitis oboInOwl:hasDbXref ICD9CM:472.0 semapv:UnspecifiedMatching DOID:8252 chronic rhinitis oboInOwl:hasDbXref ICD10CM:J31.0 semapv:UnspecifiedMatching +DOID:8252 chronic rhinitis oboInOwl:hasDbXref ICD9CM:472.0 semapv:UnspecifiedMatching +DOID:8252 chronic rhinitis oboInOwl:hasDbXref NCI:C34479 semapv:UnspecifiedMatching +DOID:8252 chronic rhinitis oboInOwl:hasDbXref UMLS_CUI:C0008711 semapv:UnspecifiedMatching DOID:8255 vulva fibroepithelial polyp oboInOwl:hasDbXref NCI:C6857 semapv:UnspecifiedMatching DOID:8255 vulva fibroepithelial polyp oboInOwl:hasDbXref UMLS_CUI:C1336978 semapv:UnspecifiedMatching -DOID:8259 bulbomembranous urethral cancer oboInOwl:hasDbXref NCI:C39869 semapv:UnspecifiedMatching DOID:8259 bulbomembranous urethral cancer oboInOwl:hasDbXref UMLS_CUI:C1511339 semapv:UnspecifiedMatching +DOID:8259 bulbomembranous urethral cancer oboInOwl:hasDbXref NCI:C39869 semapv:UnspecifiedMatching DOID:827 ureter tuberculosis oboInOwl:hasDbXref ICD9CM:016.2 semapv:UnspecifiedMatching DOID:827 ureter tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0152800 semapv:UnspecifiedMatching DOID:8272 anterior urethra cancer oboInOwl:hasDbXref NCI:C7641 semapv:UnspecifiedMatching @@ -29630,29 +29656,29 @@ DOID:8274 synovial angioma oboInOwl:hasDbXref NCI:C6525 semapv:UnspecifiedMatchi DOID:8274 synovial angioma oboInOwl:hasDbXref UMLS_CUI:C1336546 semapv:UnspecifiedMatching DOID:8275 intratubular embryonal carcinoma oboInOwl:hasDbXref NCI:C7325 semapv:UnspecifiedMatching DOID:8275 intratubular embryonal carcinoma oboInOwl:hasDbXref UMLS_CUI:C1336096 semapv:UnspecifiedMatching -DOID:8282 adult epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279545 semapv:UnspecifiedMatching DOID:8282 adult epithelioid sarcoma oboInOwl:hasDbXref NCI:C7944 semapv:UnspecifiedMatching +DOID:8282 adult epithelioid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0279545 semapv:UnspecifiedMatching DOID:8283 peritonitis oboInOwl:hasDbXref ICD9CM:567.8 semapv:UnspecifiedMatching DOID:8283 peritonitis oboInOwl:hasDbXref UMLS_CUI:C0029823 semapv:UnspecifiedMatching -DOID:8288 clear cell squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C4459 semapv:UnspecifiedMatching DOID:8288 clear cell squamous cell skin carcinoma oboInOwl:hasDbXref UMLS_CUI:C0345978 semapv:UnspecifiedMatching -DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref ICDO:8330/1 semapv:UnspecifiedMatching -DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref NCI:C27729 semapv:UnspecifiedMatching +DOID:8288 clear cell squamous cell skin carcinoma oboInOwl:hasDbXref NCI:C4459 semapv:UnspecifiedMatching DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref UMLS_CUI:C1266046 semapv:UnspecifiedMatching -DOID:8295 scabies oboInOwl:hasDbXref NCI:C34998 semapv:UnspecifiedMatching -DOID:8295 scabies oboInOwl:hasDbXref MESH:D012532 semapv:UnspecifiedMatching -DOID:8295 scabies oboInOwl:hasDbXref UMLS_CUI:C0036262 semapv:UnspecifiedMatching +DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref NCI:C27729 semapv:UnspecifiedMatching +DOID:8292 atypical follicular adenoma oboInOwl:hasDbXref ICDO:8330/1 semapv:UnspecifiedMatching DOID:8295 scabies oboInOwl:hasDbXref ICD10CM:B86 semapv:UnspecifiedMatching DOID:8295 scabies oboInOwl:hasDbXref ICD9CM:133.0 semapv:UnspecifiedMatching +DOID:8295 scabies oboInOwl:hasDbXref MESH:D012532 semapv:UnspecifiedMatching +DOID:8295 scabies oboInOwl:hasDbXref NCI:C34998 semapv:UnspecifiedMatching +DOID:8295 scabies oboInOwl:hasDbXref UMLS_CUI:C0036262 semapv:UnspecifiedMatching DOID:8295 scabies skos:exactMatch MESH:D012532 semapv:UnspecifiedMatching -DOID:83 cataract oboInOwl:hasDbXref UMLS_CUI:C0029531 semapv:UnspecifiedMatching -DOID:83 cataract skos:exactMatch MESH:D002386 semapv:UnspecifiedMatching -DOID:83 cataract oboInOwl:hasDbXref OMIMPS:116200 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref ICD10CM:H26 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref ICD9CM:366.8 semapv:UnspecifiedMatching DOID:83 cataract oboInOwl:hasDbXref OMIM:601371 semapv:UnspecifiedMatching -DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref NCI:C40178 semapv:UnspecifiedMatching +DOID:83 cataract oboInOwl:hasDbXref OMIMPS:116200 semapv:UnspecifiedMatching +DOID:83 cataract oboInOwl:hasDbXref UMLS_CUI:C0029531 semapv:UnspecifiedMatching +DOID:83 cataract skos:exactMatch MESH:D002386 semapv:UnspecifiedMatching DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref UMLS_CUI:C1513364 semapv:UnspecifiedMatching +DOID:8302 mixed endometrial stromal and smooth muscle tumor oboInOwl:hasDbXref NCI:C40178 semapv:UnspecifiedMatching DOID:8304 lymph node palisaded myofibroblastoma oboInOwl:hasDbXref NCI:C6584 semapv:UnspecifiedMatching DOID:8304 lymph node palisaded myofibroblastoma oboInOwl:hasDbXref UMLS_CUI:C1335295 semapv:UnspecifiedMatching DOID:8305 nonossifying fibromyxoid tumor oboInOwl:hasDbXref NCI:C6583 semapv:UnspecifiedMatching @@ -29661,15 +29687,15 @@ DOID:8307 early invasive cervical adenocarcinoma oboInOwl:hasDbXref NCI:C36096 s DOID:8307 early invasive cervical adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1333369 semapv:UnspecifiedMatching DOID:8310 sclerosing adenosis of breast oboInOwl:hasDbXref NCI:C5205 semapv:UnspecifiedMatching DOID:8310 sclerosing adenosis of breast oboInOwl:hasDbXref UMLS_CUI:C1335931 semapv:UnspecifiedMatching +DOID:833 auditory system cancer oboInOwl:hasDbXref MESH:D004428 semapv:UnspecifiedMatching DOID:833 auditory system cancer oboInOwl:hasDbXref NCI:C3000 semapv:UnspecifiedMatching DOID:833 auditory system cancer oboInOwl:hasDbXref UMLS_CUI:C0013449 semapv:UnspecifiedMatching -DOID:833 auditory system cancer oboInOwl:hasDbXref MESH:D004428 semapv:UnspecifiedMatching DOID:8331 perineural angioma oboInOwl:hasDbXref NCI:C6526 semapv:UnspecifiedMatching DOID:8331 perineural angioma oboInOwl:hasDbXref UMLS_CUI:C1335382 semapv:UnspecifiedMatching DOID:8335 microglandular adenosis of breast oboInOwl:hasDbXref NCI:C5199 semapv:UnspecifiedMatching DOID:8335 microglandular adenosis of breast oboInOwl:hasDbXref UMLS_CUI:C1334753 semapv:UnspecifiedMatching -DOID:8336 childhood choriocarcinoma of the ovary oboInOwl:hasDbXref NCI:C6549 semapv:UnspecifiedMatching DOID:8336 childhood choriocarcinoma of the ovary oboInOwl:hasDbXref UMLS_CUI:C1332987 semapv:UnspecifiedMatching +DOID:8336 childhood choriocarcinoma of the ovary oboInOwl:hasDbXref NCI:C6549 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref ICD10CM:K37 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref ICD9CM:540-543.99 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref MESH:D001064 semapv:UnspecifiedMatching @@ -29677,70 +29703,70 @@ DOID:8337 appendicitis oboInOwl:hasDbXref NCI:C35145 semapv:UnspecifiedMatching DOID:8337 appendicitis oboInOwl:hasDbXref UMLS_CUI:C0003615 semapv:UnspecifiedMatching DOID:8338 villoglandular variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40208 semapv:UnspecifiedMatching DOID:8338 villoglandular variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C4289808 semapv:UnspecifiedMatching -DOID:8339 intestinal variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516422 semapv:UnspecifiedMatching DOID:8339 intestinal variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40203 semapv:UnspecifiedMatching +DOID:8339 intestinal variant cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1516422 semapv:UnspecifiedMatching DOID:8340 endocervical type cervical mucinous adenocarcinoma oboInOwl:hasDbXref ICDO:8482/3 semapv:UnspecifiedMatching DOID:8340 endocervical type cervical mucinous adenocarcinoma oboInOwl:hasDbXref NCI:C40202 semapv:UnspecifiedMatching DOID:8340 endocervical type cervical mucinous adenocarcinoma oboInOwl:hasDbXref UMLS_CUI:C1266079 semapv:UnspecifiedMatching -DOID:8352 aortic malignant tumor oboInOwl:hasDbXref NCI:C5375 semapv:UnspecifiedMatching DOID:8352 aortic malignant tumor oboInOwl:hasDbXref UMLS_CUI:C1334560 semapv:UnspecifiedMatching -DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C6561 semapv:UnspecifiedMatching +DOID:8352 aortic malignant tumor oboInOwl:hasDbXref NCI:C5375 semapv:UnspecifiedMatching DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS_CUI:C1321427 semapv:UnspecifiedMatching +DOID:8353 epithelioid malignant peripheral nerve sheath tumor oboInOwl:hasDbXref NCI:C6561 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref NCI:C9468 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref OMIM:613779 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref ORDO:280133 semapv:UnspecifiedMatching DOID:8354 complement component 3 deficiency oboInOwl:hasDbXref UMLS_CUI:C1332655 semapv:UnspecifiedMatching DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref NCI:C40958 semapv:UnspecifiedMatching DOID:8358 pseudoglandular variant testicular seminoma oboInOwl:hasDbXref UMLS_CUI:C1515293 semapv:UnspecifiedMatching -DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516407 semapv:UnspecifiedMatching DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref NCI:C40212 semapv:UnspecifiedMatching +DOID:8361 glassy cell variant cervical adenosquamous carcinoma oboInOwl:hasDbXref UMLS_CUI:C1516407 semapv:UnspecifiedMatching DOID:8362 enteric pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39932 semapv:UnspecifiedMatching DOID:8362 enteric pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515304 semapv:UnspecifiedMatching -DOID:8368 chordoid meningioma oboInOwl:hasDbXref ICDO:9538/1 semapv:UnspecifiedMatching DOID:8368 chordoid meningioma oboInOwl:hasDbXref NCI:C6908 semapv:UnspecifiedMatching +DOID:8368 chordoid meningioma oboInOwl:hasDbXref ICDO:9538/1 semapv:UnspecifiedMatching DOID:8368 chordoid meningioma oboInOwl:hasDbXref UMLS_CUI:C1370510 semapv:UnspecifiedMatching -DOID:8369 adult malignant schwannoma oboInOwl:hasDbXref NCI:C7814 semapv:UnspecifiedMatching DOID:8369 adult malignant schwannoma oboInOwl:hasDbXref UMLS_CUI:C0278622 semapv:UnspecifiedMatching -DOID:8389 lumbar plexus neoplasm oboInOwl:hasDbXref NCI:C5824 semapv:UnspecifiedMatching +DOID:8369 adult malignant schwannoma oboInOwl:hasDbXref NCI:C7814 semapv:UnspecifiedMatching DOID:8389 lumbar plexus neoplasm oboInOwl:hasDbXref UMLS_CUI:C1334437 semapv:UnspecifiedMatching +DOID:8389 lumbar plexus neoplasm oboInOwl:hasDbXref NCI:C5824 semapv:UnspecifiedMatching DOID:8392 reticular pattern testicular yolk sac tumor oboInOwl:hasDbXref NCI:C39923 semapv:UnspecifiedMatching DOID:8392 reticular pattern testicular yolk sac tumor oboInOwl:hasDbXref UMLS_CUI:C1515308 semapv:UnspecifiedMatching DOID:8394 adult type testicular granulosa cell tumor oboInOwl:hasDbXref NCI:C39946 semapv:UnspecifiedMatching DOID:8394 adult type testicular granulosa cell tumor oboInOwl:hasDbXref UMLS_CUI:C1515284 semapv:UnspecifiedMatching -DOID:8398 osteoarthritis skos:exactMatch MESH:D010003 semapv:UnspecifiedMatching -DOID:8398 osteoarthritis oboInOwl:hasDbXref UMLS_CUI:C0157946 semapv:UnspecifiedMatching DOID:8398 osteoarthritis oboInOwl:hasDbXref EFO:0002506 semapv:UnspecifiedMatching DOID:8398 osteoarthritis oboInOwl:hasDbXref ICD9CM:715.3 semapv:UnspecifiedMatching +DOID:8398 osteoarthritis oboInOwl:hasDbXref UMLS_CUI:C0157946 semapv:UnspecifiedMatching +DOID:8398 osteoarthritis skos:exactMatch MESH:D010003 semapv:UnspecifiedMatching DOID:8399 trombiculiasis oboInOwl:hasDbXref MESH:D014323 semapv:UnspecifiedMatching DOID:8399 trombiculiasis oboInOwl:hasDbXref UMLS_CUI:C0041170 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref GARD:12703 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD10CM:M93.2 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD10CM:M93.9 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD9CM:732.7 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref MESH:D010007 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS_CUI:C0029421 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS_CUI:C0029420 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34878 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:UnspecifiedMatching DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34877 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref NCI:C34878 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS_CUI:C0029420 semapv:UnspecifiedMatching -DOID:84 osteochondritis dissecans oboInOwl:hasDbXref UMLS_CUI:C0029421 semapv:UnspecifiedMatching -DOID:840 cork-handlers' disease oboInOwl:hasDbXref UMLS_CUI:C0152108 semapv:UnspecifiedMatching -DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD9CM:495.3 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD9CM:732.7 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD10CM:M93.9 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref ICD10CM:M93.2 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref GARD:12703 semapv:UnspecifiedMatching +DOID:84 osteochondritis dissecans oboInOwl:hasDbXref MESH:D010007 semapv:UnspecifiedMatching DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD10CM:J67.3 semapv:UnspecifiedMatching +DOID:840 cork-handlers' disease oboInOwl:hasDbXref ICD9CM:495.3 semapv:UnspecifiedMatching +DOID:840 cork-handlers' disease oboInOwl:hasDbXref UMLS_CUI:C0152108 semapv:UnspecifiedMatching DOID:8400 malignant cornea melanoma oboInOwl:hasDbXref NCI:C4553 semapv:UnspecifiedMatching DOID:8400 malignant cornea melanoma oboInOwl:hasDbXref UMLS_CUI:C0346367 semapv:UnspecifiedMatching DOID:8408 Meckel's diverticulitis oboInOwl:hasDbXref NCI:C27300 semapv:UnspecifiedMatching DOID:8408 Meckel's diverticulitis oboInOwl:hasDbXref UMLS_CUI:C0267497 semapv:UnspecifiedMatching DOID:8409 microinvasive cervical squamous cell carcinoma oboInOwl:hasDbXref NCI:C36094 semapv:UnspecifiedMatching DOID:8409 microinvasive cervical squamous cell carcinoma oboInOwl:hasDbXref UMLS_CUI:C1333370 semapv:UnspecifiedMatching +DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref NCI:C34369 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref UMLS_CUI:C0002390 semapv:UnspecifiedMatching +DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref MESH:D000542 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref GARD:12 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref ICD10CM:J67.9 semapv:UnspecifiedMatching DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref ICD9CM:495 semapv:UnspecifiedMatching -DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref MESH:D000542 semapv:UnspecifiedMatching -DOID:841 extrinsic allergic alveolitis oboInOwl:hasDbXref NCI:C34369 semapv:UnspecifiedMatching -DOID:8410 childhood kidney angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C1333000 semapv:UnspecifiedMatching DOID:8410 childhood kidney angiomyolipoma oboInOwl:hasDbXref NCI:C6565 semapv:UnspecifiedMatching +DOID:8410 childhood kidney angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C1333000 semapv:UnspecifiedMatching DOID:8411 kidney angiomyolipoma oboInOwl:hasDbXref NCI:C3888 semapv:UnspecifiedMatching DOID:8411 kidney angiomyolipoma oboInOwl:hasDbXref UMLS_CUI:C0241961 semapv:UnspecifiedMatching DOID:8415 carcinoma arising in nasal papillomatosis oboInOwl:hasDbXref NCI:C27389 semapv:UnspecifiedMatching @@ -29749,14 +29775,14 @@ DOID:8418 congenital fibrosarcoma oboInOwl:hasDbXref NCI:C4244 semapv:Unspecifie DOID:8418 congenital fibrosarcoma oboInOwl:hasDbXref UMLS_CUI:C0334459 semapv:UnspecifiedMatching DOID:8419 colloid adenoma oboInOwl:hasDbXref NCI:C4161 semapv:UnspecifiedMatching DOID:8419 colloid adenoma oboInOwl:hasDbXref UMLS_CUI:C0334329 semapv:UnspecifiedMatching -DOID:8420 malignant glandular tumor of peripheral nerve sheath oboInOwl:hasDbXref NCI:C6560 semapv:UnspecifiedMatching DOID:8420 malignant glandular tumor of peripheral nerve sheath oboInOwl:hasDbXref UMLS_CUI:C1333821 semapv:UnspecifiedMatching +DOID:8420 malignant glandular tumor of peripheral nerve sheath oboInOwl:hasDbXref NCI:C6560 semapv:UnspecifiedMatching DOID:8426 follicular infundibulum tumor oboInOwl:hasDbXref NCI:C4469 semapv:UnspecifiedMatching DOID:8426 follicular infundibulum tumor oboInOwl:hasDbXref UMLS_CUI:C0346006 semapv:UnspecifiedMatching DOID:8427 retinal melanoma oboInOwl:hasDbXref NCI:C8601 semapv:UnspecifiedMatching DOID:8427 retinal melanoma oboInOwl:hasDbXref UMLS_CUI:C0853394 semapv:UnspecifiedMatching -DOID:8428 breast apocrine carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C1332315 semapv:UnspecifiedMatching DOID:8428 breast apocrine carcinoma in situ oboInOwl:hasDbXref NCI:C5140 semapv:UnspecifiedMatching +DOID:8428 breast apocrine carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C1332315 semapv:UnspecifiedMatching DOID:8431 physiological polycythemia oboInOwl:hasDbXref NCI:C27311 semapv:UnspecifiedMatching DOID:8431 physiological polycythemia oboInOwl:hasDbXref UMLS_CUI:C0856817 semapv:UnspecifiedMatching DOID:8432 polycythemia oboInOwl:hasDbXref ICD10CM:D75.1 semapv:UnspecifiedMatching @@ -29765,127 +29791,127 @@ DOID:8432 polycythemia oboInOwl:hasDbXref NCI:C26863 semapv:UnspecifiedMatching DOID:8432 polycythemia oboInOwl:hasDbXref UMLS_CUI:C0032461 semapv:UnspecifiedMatching DOID:8433 thyroid malformation oboInOwl:hasDbXref NCI:C27331 semapv:UnspecifiedMatching DOID:8433 thyroid malformation oboInOwl:hasDbXref UMLS_CUI:C0877367 semapv:UnspecifiedMatching -DOID:8437 intestinal obstruction oboInOwl:hasDbXref ICD10CM:K56.609 semapv:UnspecifiedMatching -DOID:8437 intestinal obstruction oboInOwl:hasDbXref ICD9CM:560.9 semapv:UnspecifiedMatching -DOID:8437 intestinal obstruction oboInOwl:hasDbXref MESH:D007415 semapv:UnspecifiedMatching DOID:8437 intestinal obstruction oboInOwl:hasDbXref NCI:C9175 semapv:UnspecifiedMatching +DOID:8437 intestinal obstruction oboInOwl:hasDbXref MESH:D007415 semapv:UnspecifiedMatching DOID:8437 intestinal obstruction oboInOwl:hasDbXref UMLS_CUI:C0021843 semapv:UnspecifiedMatching +DOID:8437 intestinal obstruction oboInOwl:hasDbXref ICD10CM:K56.609 semapv:UnspecifiedMatching +DOID:8437 intestinal obstruction oboInOwl:hasDbXref ICD9CM:560.9 semapv:UnspecifiedMatching +DOID:8438 afferent loop syndrome oboInOwl:hasDbXref MESH:D000343 semapv:UnspecifiedMatching DOID:8438 afferent loop syndrome oboInOwl:hasDbXref UMLS_CUI:C0001727 semapv:UnspecifiedMatching DOID:8438 afferent loop syndrome skos:exactMatch MESH:D000343 semapv:UnspecifiedMatching -DOID:8438 afferent loop syndrome oboInOwl:hasDbXref MESH:D000343 semapv:UnspecifiedMatching -DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref UMLS_CUI:C0032763 semapv:UnspecifiedMatching -DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref MESH:D011178 semapv:UnspecifiedMatching DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref ICD10CM:K91.1 semapv:UnspecifiedMatching DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref ICD9CM:564.2 semapv:UnspecifiedMatching +DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref MESH:D011178 semapv:UnspecifiedMatching +DOID:8439 postgastrectomy syndrome oboInOwl:hasDbXref UMLS_CUI:C0032763 semapv:UnspecifiedMatching DOID:8440 ileus oboInOwl:hasDbXref MESH:D045823 semapv:UnspecifiedMatching DOID:8440 ileus oboInOwl:hasDbXref NCI:C37979 semapv:UnspecifiedMatching DOID:8440 ileus oboInOwl:hasDbXref UMLS_CUI:C1258215 semapv:UnspecifiedMatching -DOID:8442 paralytic ileus oboInOwl:hasDbXref ICD10CM:K56.0 semapv:UnspecifiedMatching +DOID:8442 paralytic ileus oboInOwl:hasDbXref UMLS_CUI:C0030446 semapv:UnspecifiedMatching +DOID:8442 paralytic ileus oboInOwl:hasDbXref NCI:C93045 semapv:UnspecifiedMatching DOID:8442 paralytic ileus oboInOwl:hasDbXref ICD9CM:560.1 semapv:UnspecifiedMatching +DOID:8442 paralytic ileus oboInOwl:hasDbXref ICD10CM:K56.0 semapv:UnspecifiedMatching DOID:8442 paralytic ileus oboInOwl:hasDbXref MESH:D007418 semapv:UnspecifiedMatching -DOID:8442 paralytic ileus oboInOwl:hasDbXref NCI:C93045 semapv:UnspecifiedMatching -DOID:8442 paralytic ileus oboInOwl:hasDbXref UMLS_CUI:C0030446 semapv:UnspecifiedMatching DOID:8443 brachial plexus lesion oboInOwl:hasDbXref ICD9CM:353.0 semapv:UnspecifiedMatching DOID:8443 brachial plexus lesion oboInOwl:hasDbXref UMLS_CUI:C0006091 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus oboInOwl:hasDbXref UMLS_CUI:C0042961 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus oboInOwl:hasDbXref OMIM:193250 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus oboInOwl:hasDbXref NCI:C98963 semapv:UnspecifiedMatching -DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD9CM:560.2 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD10CM:K56.2 semapv:UnspecifiedMatching +DOID:8445 intestinal volvulus oboInOwl:hasDbXref ICD9CM:560.2 semapv:UnspecifiedMatching DOID:8445 intestinal volvulus oboInOwl:hasDbXref MESH:D045822 semapv:UnspecifiedMatching -DOID:8446 intussusception oboInOwl:hasDbXref ICD10CM:K56.1 semapv:UnspecifiedMatching -DOID:8446 intussusception oboInOwl:hasDbXref ICD9CM:560.0 semapv:UnspecifiedMatching -DOID:8446 intussusception oboInOwl:hasDbXref MESH:D007443 semapv:UnspecifiedMatching -DOID:8446 intussusception oboInOwl:hasDbXref NCI:C113484 semapv:UnspecifiedMatching +DOID:8445 intestinal volvulus oboInOwl:hasDbXref NCI:C98963 semapv:UnspecifiedMatching +DOID:8445 intestinal volvulus oboInOwl:hasDbXref OMIM:193250 semapv:UnspecifiedMatching +DOID:8445 intestinal volvulus oboInOwl:hasDbXref UMLS_CUI:C0042961 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref OMIM:147710 semapv:UnspecifiedMatching +DOID:8446 intussusception oboInOwl:hasDbXref NCI:C113484 semapv:UnspecifiedMatching DOID:8446 intussusception oboInOwl:hasDbXref UMLS_CUI:C0021933 semapv:UnspecifiedMatching -DOID:8448 intestinal impaction oboInOwl:hasDbXref UMLS_CUI:C0029640 semapv:UnspecifiedMatching +DOID:8446 intussusception oboInOwl:hasDbXref ICD9CM:560.0 semapv:UnspecifiedMatching +DOID:8446 intussusception oboInOwl:hasDbXref ICD10CM:K56.1 semapv:UnspecifiedMatching +DOID:8446 intussusception oboInOwl:hasDbXref MESH:D007443 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref ICD10CM:K56.4 semapv:UnspecifiedMatching DOID:8448 intestinal impaction oboInOwl:hasDbXref ICD9CM:560.39 semapv:UnspecifiedMatching -DOID:845 cyclothymic disorder oboInOwl:hasDbXref MESH:D003527 semapv:UnspecifiedMatching -DOID:845 cyclothymic disorder oboInOwl:hasDbXref UMLS_CUI:C0010598 semapv:UnspecifiedMatching +DOID:8448 intestinal impaction oboInOwl:hasDbXref UMLS_CUI:C0029640 semapv:UnspecifiedMatching DOID:845 cyclothymic disorder oboInOwl:hasDbXref ICD10CM:F34.0 semapv:UnspecifiedMatching DOID:845 cyclothymic disorder oboInOwl:hasDbXref ICD9CM:301.13 semapv:UnspecifiedMatching +DOID:845 cyclothymic disorder oboInOwl:hasDbXref MESH:D003527 semapv:UnspecifiedMatching +DOID:845 cyclothymic disorder oboInOwl:hasDbXref UMLS_CUI:C0010598 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref ICD10CM:E53.0 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref ICD9CM:266.0 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref MESH:D012257 semapv:UnspecifiedMatching DOID:8454 riboflavin deficiency oboInOwl:hasDbXref UMLS_CUI:C0035528 semapv:UnspecifiedMatching +DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0936215 semapv:UnspecifiedMatching +DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref NCI:C85221 semapv:UnspecifiedMatching +DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref MESH:D026681 semapv:UnspecifiedMatching DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref ICD10CM:E53.1 semapv:UnspecifiedMatching DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref ICD9CM:266.1 semapv:UnspecifiedMatching -DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref MESH:D026681 semapv:UnspecifiedMatching -DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref NCI:C85221 semapv:UnspecifiedMatching -DOID:8455 pyridoxine deficiency anemia oboInOwl:hasDbXref UMLS_CUI:C0936215 semapv:UnspecifiedMatching DOID:8456 choline deficiency disease oboInOwl:hasDbXref MESH:D002796 semapv:UnspecifiedMatching DOID:8456 choline deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0008412 semapv:UnspecifiedMatching -DOID:8457 pellagra oboInOwl:hasDbXref MESH:D010383 semapv:UnspecifiedMatching -DOID:8457 pellagra oboInOwl:hasDbXref UMLS_CUI:C0030783 semapv:UnspecifiedMatching DOID:8457 pellagra oboInOwl:hasDbXref GARD:10014 semapv:UnspecifiedMatching DOID:8457 pellagra oboInOwl:hasDbXref ICD9CM:265.2 semapv:UnspecifiedMatching +DOID:8457 pellagra oboInOwl:hasDbXref MESH:D010383 semapv:UnspecifiedMatching +DOID:8457 pellagra oboInOwl:hasDbXref UMLS_CUI:C0030783 semapv:UnspecifiedMatching +DOID:8461 Aicardi syndrome skos:exactMatch MESH:D058540 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref UMLS_CUI:C0175713 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref ORDO:50 semapv:UnspecifiedMatching -DOID:8461 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMatching -DOID:8461 Aicardi syndrome skos:exactMatch MESH:D058540 semapv:UnspecifiedMatching -DOID:8461 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref GARD:5764 semapv:UnspecifiedMatching DOID:8461 Aicardi syndrome oboInOwl:hasDbXref NCI:C35256 semapv:UnspecifiedMatching -DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.0 semapv:UnspecifiedMatching -DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD9CM:370.0 semapv:UnspecifiedMatching -DOID:8463 corneal ulcer oboInOwl:hasDbXref MESH:D003320 semapv:UnspecifiedMatching +DOID:8461 Aicardi syndrome oboInOwl:hasDbXref MESH:D058540 semapv:UnspecifiedMatching +DOID:8461 Aicardi syndrome oboInOwl:hasDbXref OMIM:304050 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref NCI:C50515 semapv:UnspecifiedMatching +DOID:8463 corneal ulcer oboInOwl:hasDbXref MESH:D003320 semapv:UnspecifiedMatching DOID:8463 corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0010043 semapv:UnspecifiedMatching +DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD10CM:H16.0 semapv:UnspecifiedMatching +DOID:8463 corneal ulcer oboInOwl:hasDbXref ICD9CM:370.0 semapv:UnspecifiedMatching DOID:8464 flat retinoschisis oboInOwl:hasDbXref ICD9CM:361.11 semapv:UnspecifiedMatching DOID:8464 flat retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0154817 semapv:UnspecifiedMatching -DOID:8465 retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0152439 semapv:UnspecifiedMatching +DOID:8465 retinoschisis oboInOwl:hasDbXref ICD10CM:H33.10 semapv:UnspecifiedMatching +DOID:8465 retinoschisis oboInOwl:hasDbXref ICD9CM:361.10 semapv:UnspecifiedMatching DOID:8465 retinoschisis oboInOwl:hasDbXref MESH:D041441 semapv:UnspecifiedMatching DOID:8465 retinoschisis oboInOwl:hasDbXref NCI:C85046 semapv:UnspecifiedMatching -DOID:8465 retinoschisis oboInOwl:hasDbXref ICD9CM:361.10 semapv:UnspecifiedMatching -DOID:8465 retinoschisis oboInOwl:hasDbXref ICD10CM:H33.10 semapv:UnspecifiedMatching +DOID:8465 retinoschisis oboInOwl:hasDbXref UMLS_CUI:C0152439 semapv:UnspecifiedMatching DOID:8466 retinal degeneration oboInOwl:hasDbXref MESH:D012162 semapv:UnspecifiedMatching DOID:8466 retinal degeneration oboInOwl:hasDbXref NCI:C34979 semapv:UnspecifiedMatching DOID:8466 retinal degeneration oboInOwl:hasDbXref UMLS_CUI:C0035304 semapv:UnspecifiedMatching +DOID:8469 influenza oboInOwl:hasDbXref MESH:D007251 semapv:UnspecifiedMatching +DOID:8469 influenza oboInOwl:hasDbXref UMLS_CUI:C0021400 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref ICD10CM:J11.1 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref ICD9CM:487 semapv:UnspecifiedMatching -DOID:8469 influenza oboInOwl:hasDbXref MESH:D007251 semapv:UnspecifiedMatching DOID:8469 influenza oboInOwl:hasDbXref NCI:C53482 semapv:UnspecifiedMatching -DOID:8469 influenza oboInOwl:hasDbXref UMLS_CUI:C0021400 semapv:UnspecifiedMatching -DOID:8472 localized scleroderma oboInOwl:hasDbXref NCI:C72069 semapv:UnspecifiedMatching -DOID:8472 localized scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching -DOID:8472 localized scleroderma oboInOwl:hasDbXref UMLS_CUI:C0036420 semapv:UnspecifiedMatching -DOID:8472 localized scleroderma oboInOwl:hasDbXref ICD10CM:L94.0 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref GARD:7058 semapv:UnspecifiedMatching +DOID:8472 localized scleroderma oboInOwl:hasDbXref ICD10CM:L94.0 semapv:UnspecifiedMatching DOID:8472 localized scleroderma oboInOwl:hasDbXref ICD9CM:701.0 semapv:UnspecifiedMatching +DOID:8472 localized scleroderma oboInOwl:hasDbXref MESH:D012594 semapv:UnspecifiedMatching +DOID:8472 localized scleroderma oboInOwl:hasDbXref NCI:C72069 semapv:UnspecifiedMatching +DOID:8472 localized scleroderma oboInOwl:hasDbXref UMLS_CUI:C0036420 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref GARD:7889 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref ICD10CM:K90.81 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref ICD9CM:040.2 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref MESH:D008061 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref NCI:C85228 semapv:UnspecifiedMatching DOID:8476 Whipple disease oboInOwl:hasDbXref UMLS_CUI:C0023788 semapv:UnspecifiedMatching -DOID:8478 actinomycosis skos:exactMatch MESH:D000196 semapv:UnspecifiedMatching -DOID:8478 actinomycosis oboInOwl:hasDbXref UMLS_CUI:C0001261 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref NCI:C34350 semapv:UnspecifiedMatching -DOID:8478 actinomycosis oboInOwl:hasDbXref GARD:5728 semapv:UnspecifiedMatching -DOID:8478 actinomycosis oboInOwl:hasDbXref ICD9CM:039.9 semapv:UnspecifiedMatching -DOID:8478 actinomycosis oboInOwl:hasDbXref ICD10CM:A42 semapv:UnspecifiedMatching +DOID:8478 actinomycosis oboInOwl:hasDbXref UMLS_CUI:C0001261 semapv:UnspecifiedMatching +DOID:8478 actinomycosis skos:exactMatch MESH:D000196 semapv:UnspecifiedMatching DOID:8478 actinomycosis oboInOwl:hasDbXref MESH:D000196 semapv:UnspecifiedMatching +DOID:8478 actinomycosis oboInOwl:hasDbXref ICD10CM:A42 semapv:UnspecifiedMatching +DOID:8478 actinomycosis oboInOwl:hasDbXref ICD9CM:039.9 semapv:UnspecifiedMatching +DOID:8478 actinomycosis oboInOwl:hasDbXref GARD:5728 semapv:UnspecifiedMatching +DOID:848 arthritis oboInOwl:hasDbXref ICD10CM:M19.90 semapv:UnspecifiedMatching +DOID:848 arthritis oboInOwl:hasDbXref MESH:D001168 semapv:UnspecifiedMatching +DOID:848 arthritis oboInOwl:hasDbXref NCI:C2883 semapv:UnspecifiedMatching DOID:848 arthritis oboInOwl:hasDbXref UMLS_CUI:C0003864 semapv:UnspecifiedMatching DOID:848 arthritis skos:exactMatch MESH:D001168 semapv:UnspecifiedMatching -DOID:848 arthritis oboInOwl:hasDbXref NCI:C2883 semapv:UnspecifiedMatching -DOID:848 arthritis oboInOwl:hasDbXref MESH:D001168 semapv:UnspecifiedMatching -DOID:848 arthritis oboInOwl:hasDbXref ICD10CM:M19.90 semapv:UnspecifiedMatching -DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD10CM:I01.9 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD10CM:M05.3 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD9CM:391.9 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD9CM:398.0 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref NCI:C34985 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0035440 semapv:UnspecifiedMatching DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0489959 semapv:UnspecifiedMatching -DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref ICD10CM:H34.0 semapv:UnspecifiedMatching -DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref ICD9CM:362.34 semapv:UnspecifiedMatching -DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref NCI:C35193 semapv:UnspecifiedMatching +DOID:8481 rheumatic myocarditis oboInOwl:hasDbXref ICD10CM:I01.9 semapv:UnspecifiedMatching DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref UMLS_CUI:C0154840 semapv:UnspecifiedMatching +DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref NCI:C35193 semapv:UnspecifiedMatching +DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref ICD9CM:362.34 semapv:UnspecifiedMatching +DOID:8482 transient retinal arterial occlusion oboInOwl:hasDbXref ICD10CM:H34.0 semapv:UnspecifiedMatching +DOID:8483 retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching DOID:8483 retinal artery occlusion oboInOwl:hasDbXref NCI:C34978 semapv:UnspecifiedMatching DOID:8483 retinal artery occlusion oboInOwl:hasDbXref UMLS_CUI:C0035302 semapv:UnspecifiedMatching -DOID:8483 retinal artery occlusion oboInOwl:hasDbXref MESH:D015356 semapv:UnspecifiedMatching DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref ICD10CM:J67.6 semapv:UnspecifiedMatching DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref ICD9CM:495.6 semapv:UnspecifiedMatching DOID:8484 maple bark strippers' lung oboInOwl:hasDbXref UMLS_CUI:C0155890 semapv:UnspecifiedMatching @@ -29897,28 +29923,28 @@ DOID:8488 polyhydramnios oboInOwl:hasDbXref NCI:C92848 semapv:UnspecifiedMatchin DOID:8488 polyhydramnios oboInOwl:hasDbXref UMLS_CUI:C0020224 semapv:UnspecifiedMatching DOID:849 rheumatoid arthritis interstitial lung disease oboInOwl:hasDbXref ICD9CM:714.81 semapv:UnspecifiedMatching DOID:8498 hereditary night blindness oboInOwl:hasDbXref MESH:C537743 semapv:UnspecifiedMatching +DOID:8498 hereditary night blindness oboInOwl:hasDbXref UMLS_CUI:C1306122 semapv:UnspecifiedMatching DOID:8498 hereditary night blindness oboInOwl:hasDbXref ICD10CM:H53.63 semapv:UnspecifiedMatching DOID:8498 hereditary night blindness oboInOwl:hasDbXref ICD9CM:368.61 semapv:UnspecifiedMatching -DOID:8498 hereditary night blindness oboInOwl:hasDbXref UMLS_CUI:C1306122 semapv:UnspecifiedMatching -DOID:8499 night blindness oboInOwl:hasDbXref UMLS_CUI:C0028077 semapv:UnspecifiedMatching -DOID:8499 night blindness oboInOwl:hasDbXref NCI:C34850 semapv:UnspecifiedMatching -DOID:8499 night blindness oboInOwl:hasDbXref MESH:D009755 semapv:UnspecifiedMatching -DOID:8499 night blindness oboInOwl:hasDbXref ICD9CM:368.6 semapv:UnspecifiedMatching DOID:8499 night blindness oboInOwl:hasDbXref ICD10CM:H53.6 semapv:UnspecifiedMatching -DOID:850 lung disease oboInOwl:hasDbXref ICD10CM:J98.4 semapv:UnspecifiedMatching -DOID:850 lung disease oboInOwl:hasDbXref MESH:D008171 semapv:UnspecifiedMatching +DOID:8499 night blindness oboInOwl:hasDbXref ICD9CM:368.6 semapv:UnspecifiedMatching +DOID:8499 night blindness oboInOwl:hasDbXref MESH:D009755 semapv:UnspecifiedMatching +DOID:8499 night blindness oboInOwl:hasDbXref NCI:C34850 semapv:UnspecifiedMatching +DOID:8499 night blindness oboInOwl:hasDbXref UMLS_CUI:C0028077 semapv:UnspecifiedMatching DOID:850 lung disease oboInOwl:hasDbXref NCI:C3198 semapv:UnspecifiedMatching DOID:850 lung disease oboInOwl:hasDbXref UMLS_CUI:C0024115 semapv:UnspecifiedMatching +DOID:850 lung disease oboInOwl:hasDbXref ICD10CM:J98.4 semapv:UnspecifiedMatching +DOID:850 lung disease oboInOwl:hasDbXref MESH:D008171 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref ICD10CM:H35.5 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref ICD9CM:362.7 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref NCI:C35194 semapv:UnspecifiedMatching DOID:8500 hereditary retinal dystrophy oboInOwl:hasDbXref UMLS_CUI:C0154860 semapv:UnspecifiedMatching +DOID:8501 fundus dystrophy oboInOwl:hasDbXref UMLS_CUI:C0854723 semapv:UnspecifiedMatching DOID:8501 fundus dystrophy oboInOwl:hasDbXref MESH:D058499 semapv:UnspecifiedMatching DOID:8501 fundus dystrophy oboInOwl:hasDbXref NCI:C35625 semapv:UnspecifiedMatching -DOID:8501 fundus dystrophy oboInOwl:hasDbXref UMLS_CUI:C0854723 semapv:UnspecifiedMatching DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref UMLS_CUI:C1314968 semapv:UnspecifiedMatching -DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref ICD9CM:694.3 semapv:UnspecifiedMatching DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref ICD10CM:L40.1 semapv:UnspecifiedMatching +DOID:8503 impetigo herpetiformis oboInOwl:hasDbXref ICD9CM:694.3 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref ICD10CM:L01.0 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref ICD9CM:684 semapv:UnspecifiedMatching DOID:8504 impetigo oboInOwl:hasDbXref MESH:D007169 semapv:UnspecifiedMatching @@ -29931,27 +29957,27 @@ DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref MESH:D003874 semapv:Unspec DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref NCI:C26742 semapv:UnspecifiedMatching DOID:8505 dermatitis herpetiformis oboInOwl:hasDbXref UMLS_CUI:C0011608 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref NCI:C84389 semapv:UnspecifiedMatching -DOID:8506 bullous pemphigoid oboInOwl:hasDbXref MESH:D010391 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref UMLS_CUI:C0030805 semapv:UnspecifiedMatching +DOID:8506 bullous pemphigoid oboInOwl:hasDbXref MESH:D010391 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref ICD10CM:L12.0 semapv:UnspecifiedMatching -DOID:8506 bullous pemphigoid oboInOwl:hasDbXref ICD9CM:694.5 semapv:UnspecifiedMatching DOID:8506 bullous pemphigoid oboInOwl:hasDbXref GARD:5972 semapv:UnspecifiedMatching +DOID:8506 bullous pemphigoid oboInOwl:hasDbXref ICD9CM:694.5 semapv:UnspecifiedMatching DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref ICD10CM:L12.2 semapv:UnspecifiedMatching DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref ICD9CM:694.2 semapv:UnspecifiedMatching DOID:8507 juvenile dermatitis herpetiformis oboInOwl:hasDbXref UMLS_CUI:C0152092 semapv:UnspecifiedMatching DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref ICD10CM:L13.1 semapv:UnspecifiedMatching DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref ICD9CM:694.1 semapv:UnspecifiedMatching -DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS_CUI:C0600336 semapv:UnspecifiedMatching DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref MESH:D012872 semapv:UnspecifiedMatching +DOID:8508 subcorneal pustular dermatosis oboInOwl:hasDbXref UMLS_CUI:C0600336 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref ICD10CM:N75.0 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref ICD9CM:616.2 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref NCI:C26706 semapv:UnspecifiedMatching DOID:851 Bartholin's duct cyst oboInOwl:hasDbXref UMLS_CUI:C0004767 semapv:UnspecifiedMatching DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref UMLS_CUI:C0157540 semapv:UnspecifiedMatching -DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref ICD10CM:O88.21 semapv:UnspecifiedMatching DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref ICD9CM:673 semapv:UnspecifiedMatching -DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref UMLS_CUI:C0155671 semapv:UnspecifiedMatching +DOID:8512 puerperal pulmonary embolism oboInOwl:hasDbXref ICD10CM:O88.21 semapv:UnspecifiedMatching DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref ICD9CM:415 semapv:UnspecifiedMatching +DOID:8514 acute pulmonary heart disease oboInOwl:hasDbXref UMLS_CUI:C0155671 semapv:UnspecifiedMatching DOID:8515 Cor pulmonale oboInOwl:hasDbXref ICD10CM:I27.81 semapv:UnspecifiedMatching DOID:8515 Cor pulmonale oboInOwl:hasDbXref MESH:D011660 semapv:UnspecifiedMatching DOID:8515 Cor pulmonale oboInOwl:hasDbXref UMLS_CUI:C0034072 semapv:UnspecifiedMatching @@ -29960,29 +29986,29 @@ DOID:8516 pulmonary embolism and infarction oboInOwl:hasDbXref UMLS_CUI:C0034066 DOID:8517 acute cor pulmonale oboInOwl:hasDbXref ICD10CM:I26.09 semapv:UnspecifiedMatching DOID:8517 acute cor pulmonale oboInOwl:hasDbXref ICD9CM:415.0 semapv:UnspecifiedMatching DOID:8517 acute cor pulmonale oboInOwl:hasDbXref UMLS_CUI:C0155672 semapv:UnspecifiedMatching +DOID:8519 barbiturate abuse oboInOwl:hasDbXref UMLS_CUI:C0154529 semapv:UnspecifiedMatching DOID:8519 barbiturate abuse oboInOwl:hasDbXref ICD10CM:F13.11 semapv:UnspecifiedMatching DOID:8519 barbiturate abuse oboInOwl:hasDbXref ICD9CM:305.43 semapv:UnspecifiedMatching -DOID:8519 barbiturate abuse oboInOwl:hasDbXref UMLS_CUI:C0154529 semapv:UnspecifiedMatching -DOID:8527 monocytic leukemia oboInOwl:hasDbXref ICD10CM:C93.Z semapv:UnspecifiedMatching -DOID:8527 monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.8 semapv:UnspecifiedMatching DOID:8527 monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0153903 semapv:UnspecifiedMatching -DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref UMLS_CUI:C0032533 semapv:UnspecifiedMatching -DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref NCI:C85018 semapv:UnspecifiedMatching +DOID:8527 monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.8 semapv:UnspecifiedMatching +DOID:8527 monocytic leukemia oboInOwl:hasDbXref ICD10CM:C93.Z semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref ICD10CM:M35.3 semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref ICD9CM:725 semapv:UnspecifiedMatching DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref MESH:D011111 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref GARD:9334 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD10CM:C13 semapv:UnspecifiedMatching +DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref NCI:C85018 semapv:UnspecifiedMatching +DOID:853 polymyalgia rheumatica oboInOwl:hasDbXref UMLS_CUI:C0032533 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0496770 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153398 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref NCI:C7190 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref MESH:D007012 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD10CM:C13.2 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD9CM:148 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD10CM:C13 semapv:UnspecifiedMatching +DOID:8533 hypopharynx cancer oboInOwl:hasDbXref GARD:9334 semapv:UnspecifiedMatching DOID:8533 hypopharynx cancer oboInOwl:hasDbXref ICD9CM:148.3 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref MESH:D007012 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref NCI:C7190 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153398 semapv:UnspecifiedMatching -DOID:8533 hypopharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0496770 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref OMIM:109350 semapv:UnspecifiedMatching -DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref NCI:C26781 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref UMLS_CUI:C0017168 semapv:UnspecifiedMatching +DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref NCI:C26781 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref ICD9CM:530.81 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref ICD10CM:K21.9 semapv:UnspecifiedMatching DOID:8534 gastroesophageal reflux disease oboInOwl:hasDbXref MESH:D005764 semapv:UnspecifiedMatching @@ -29991,20 +30017,20 @@ DOID:8536 herpes zoster oboInOwl:hasDbXref ICD9CM:053 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref MESH:D006562 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref NCI:C71079 semapv:UnspecifiedMatching DOID:8536 herpes zoster oboInOwl:hasDbXref UMLS_CUI:C0019360 semapv:UnspecifiedMatching -DOID:8538 reticulosarcoma oboInOwl:hasDbXref UMLS_CUI:C0024302 semapv:UnspecifiedMatching -DOID:8538 reticulosarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching -DOID:8538 reticulosarcoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref ICD9CM:200.0 semapv:UnspecifiedMatching +DOID:8538 reticulosarcoma oboInOwl:hasDbXref MESH:D008228 semapv:UnspecifiedMatching DOID:8538 reticulosarcoma oboInOwl:hasDbXref NCI:C27824 semapv:UnspecifiedMatching -DOID:854 collagen disease oboInOwl:hasDbXref MESH:D003095 semapv:UnspecifiedMatching -DOID:854 collagen disease oboInOwl:hasDbXref NCI:C27204 semapv:UnspecifiedMatching +DOID:8538 reticulosarcoma oboInOwl:hasDbXref OMIM:267730 semapv:UnspecifiedMatching +DOID:8538 reticulosarcoma oboInOwl:hasDbXref UMLS_CUI:C0024302 semapv:UnspecifiedMatching DOID:854 collagen disease oboInOwl:hasDbXref UMLS_CUI:C0009326 semapv:UnspecifiedMatching -DOID:8541 Sezary's disease oboInOwl:hasDbXref NCI:C3366 semapv:UnspecifiedMatching -DOID:8541 Sezary's disease oboInOwl:hasDbXref UMLS_CUI:C0036920 semapv:UnspecifiedMatching -DOID:8541 Sezary's disease oboInOwl:hasDbXref MESH:D012751 semapv:UnspecifiedMatching +DOID:854 collagen disease oboInOwl:hasDbXref NCI:C27204 semapv:UnspecifiedMatching +DOID:854 collagen disease oboInOwl:hasDbXref MESH:D003095 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref GARD:7629 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref ICD10CM:C84.1 semapv:UnspecifiedMatching DOID:8541 Sezary's disease oboInOwl:hasDbXref ICD9CM:202.2 semapv:UnspecifiedMatching +DOID:8541 Sezary's disease oboInOwl:hasDbXref MESH:D012751 semapv:UnspecifiedMatching +DOID:8541 Sezary's disease oboInOwl:hasDbXref NCI:C3366 semapv:UnspecifiedMatching +DOID:8541 Sezary's disease oboInOwl:hasDbXref UMLS_CUI:C0036920 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref ICD10CM:C81.4 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref ICD9CM:201.4 semapv:UnspecifiedMatching DOID:8543 Hodgkin's lymphoma, lymphocytic-histiocytic predominance oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching @@ -30016,60 +30042,60 @@ DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref MESH:D015673 semapv:Unspec DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref ICD10CM:G93.32 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref GARD:7121 semapv:UnspecifiedMatching DOID:8544 chronic fatigue syndrome oboInOwl:hasDbXref ICD9CM:780.71 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref OMIMPS:145600 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref UMLS_CUI:C0024591 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ORDO:423 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref NCI:C84869 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref GARD:6964 semapv:UnspecifiedMatching -DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD9CM:995.86 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD10CM:T88.3 semapv:UnspecifiedMatching +DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ICD9CM:995.86 semapv:UnspecifiedMatching DOID:8545 malignant hyperthermia oboInOwl:hasDbXref MESH:D008305 semapv:UnspecifiedMatching -DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD10CM:L98.4 semapv:UnspecifiedMatching -DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD9CM:707 semapv:UnspecifiedMatching -DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref UMLS_CUI:C0157738 semapv:UnspecifiedMatching -DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching +DOID:8545 malignant hyperthermia oboInOwl:hasDbXref NCI:C84869 semapv:UnspecifiedMatching +DOID:8545 malignant hyperthermia oboInOwl:hasDbXref OMIMPS:145600 semapv:UnspecifiedMatching +DOID:8545 malignant hyperthermia oboInOwl:hasDbXref ORDO:423 semapv:UnspecifiedMatching +DOID:8545 malignant hyperthermia oboInOwl:hasDbXref UMLS_CUI:C0024591 semapv:UnspecifiedMatching +DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref UMLS_CUI:C0157738 semapv:UnspecifiedMatching +DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD10CM:L98.4 semapv:UnspecifiedMatching +DOID:8549 chronic ulcer of skin oboInOwl:hasDbXref ICD9CM:707 semapv:UnspecifiedMatching +DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ORDO:521 semapv:UnspecifiedMatching +DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref OMIM:608232 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023473 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref KEGG:05220 semapv:UnspecifiedMatching -DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ORDO:521 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ICD9CM:205.1 semapv:UnspecifiedMatching -DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref EFO:0000339 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref ICDO:9863/3 semapv:UnspecifiedMatching DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref GARD:6105 semapv:UnspecifiedMatching -DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref GARD:7510 semapv:UnspecifiedMatching -DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD10CM:L88 semapv:UnspecifiedMatching -DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD9CM:686.01 semapv:UnspecifiedMatching -DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref MESH:D017511 semapv:UnspecifiedMatching +DOID:8552 chronic myeloid leukemia oboInOwl:hasDbXref EFO:0000339 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref UMLS_CUI:C0085652 semapv:UnspecifiedMatching +DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref MESH:D017511 semapv:UnspecifiedMatching DOID:8553 pyoderma gangrenosum skos:exactMatch MESH:D017511 semapv:UnspecifiedMatching +DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD10CM:L88 semapv:UnspecifiedMatching +DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref GARD:7510 semapv:UnspecifiedMatching +DOID:8553 pyoderma gangrenosum oboInOwl:hasDbXref ICD9CM:686.01 semapv:UnspecifiedMatching DOID:8556 vallecula cancer oboInOwl:hasDbXref ICD10CM:C10.0 semapv:UnspecifiedMatching DOID:8556 vallecula cancer oboInOwl:hasDbXref ICD9CM:146.3 semapv:UnspecifiedMatching DOID:8556 vallecula cancer oboInOwl:hasDbXref UMLS_CUI:C0153386 semapv:UnspecifiedMatching +DOID:8557 oropharynx cancer oboInOwl:hasDbXref NCI:C7398 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153390 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153389 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153388 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref UMLS_CUI:C0153382 semapv:UnspecifiedMatching -DOID:8557 oropharynx cancer oboInOwl:hasDbXref NCI:C7398 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.7 semapv:UnspecifiedMatching -DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.6 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.5 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10.8 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10.3 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10.2 semapv:UnspecifiedMatching DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD10CM:C10 semapv:UnspecifiedMatching +DOID:8557 oropharynx cancer oboInOwl:hasDbXref ICD9CM:146.6 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref GARD:894 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref ICD10CM:D81.810 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref MESH:D028921 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref NCI:C84598 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref OMIM:253260 semapv:UnspecifiedMatching DOID:856 biotinidase deficiency oboInOwl:hasDbXref UMLS_CUI:C0220754 semapv:UnspecifiedMatching +DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153340 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153347 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153346 semapv:UnspecifiedMatching -DOID:8564 lip cancer oboInOwl:hasDbXref UMLS_CUI:C0153340 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref NCI:C7485 semapv:UnspecifiedMatching -DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.6 semapv:UnspecifiedMatching -DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.8 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140 semapv:UnspecifiedMatching +DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.8 semapv:UnspecifiedMatching +DOID:8564 lip cancer oboInOwl:hasDbXref ICD9CM:140.6 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref ICD10CM:C00 semapv:UnspecifiedMatching DOID:8564 lip cancer oboInOwl:hasDbXref MESH:D008048 semapv:UnspecifiedMatching DOID:8566 herpes simplex oboInOwl:hasDbXref ICD10CM:B00.9 semapv:UnspecifiedMatching @@ -30097,9 +30123,9 @@ DOID:8568 infectious mononucleosis oboInOwl:hasDbXref NCI:C34726 semapv:Unspecif DOID:8568 infectious mononucleosis oboInOwl:hasDbXref UMLS_CUI:C0021345 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency skos:exactMatch MESH:D009100 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref UMLS_CUI:C0026755 semapv:UnspecifiedMatching -DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref MESH:D009100 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref ICD10CM:D81.81 semapv:UnspecifiedMatching DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref GARD:3824 semapv:UnspecifiedMatching +DOID:857 multiple carboxylase deficiency oboInOwl:hasDbXref MESH:D009100 semapv:UnspecifiedMatching DOID:8573 lichen nitidus oboInOwl:hasDbXref ICD10CM:L44.1 semapv:UnspecifiedMatching DOID:8573 lichen nitidus oboInOwl:hasDbXref ICD9CM:697.1 semapv:UnspecifiedMatching DOID:8573 lichen nitidus oboInOwl:hasDbXref MESH:D017513 semapv:UnspecifiedMatching @@ -30107,29 +30133,29 @@ DOID:8573 lichen nitidus oboInOwl:hasDbXref UMLS_CUI:C0162849 semapv:Unspecified DOID:8574 lichen disease oboInOwl:hasDbXref ICD10CM:L28.0 semapv:UnspecifiedMatching DOID:8574 lichen disease oboInOwl:hasDbXref ICD9CM:697.9 semapv:UnspecifiedMatching DOID:8574 lichen disease oboInOwl:hasDbXref UMLS_CUI:C0023643 semapv:UnspecifiedMatching +DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS_CUI:C0375359 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS_CUI:C0009324 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref NCI:C2952 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref MESH:D003093 semapv:UnspecifiedMatching -DOID:8577 ulcerative colitis oboInOwl:hasDbXref UMLS_CUI:C0375359 semapv:UnspecifiedMatching +DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD9CM:556.5 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD9CM:556 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD10CM:K51 semapv:UnspecifiedMatching DOID:8577 ulcerative colitis oboInOwl:hasDbXref EFO:0000729 semapv:UnspecifiedMatching -DOID:8577 ulcerative colitis oboInOwl:hasDbXref ICD9CM:556.5 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref ICD10CM:C05.1 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref ICD9CM:145.3 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref NCI:C3529 semapv:UnspecifiedMatching DOID:8578 soft palate cancer oboInOwl:hasDbXref UMLS_CUI:C0153376 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref UMLS_CUI:C0006413 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ORDO:543 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref OMIM:113970 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref NCI:C2912 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICD10CM:C83.7 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICDO:9687/3 semapv:UnspecifiedMatching +DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMatching +DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref UMLS_CUI:C0006413 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICD9CM:200.2 semapv:UnspecifiedMatching +DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICD10CM:C83.7 semapv:UnspecifiedMatching DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref GARD:5973 semapv:UnspecifiedMatching -DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref MESH:D002051 semapv:UnspecifiedMatching -DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 semapv:UnspecifiedMatching +DOID:8584 Burkitt lymphoma oboInOwl:hasDbXref ICDO:9687/3 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268581 semapv:UnspecifiedMatching +DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref OMIM:253270 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref NCI:C98842 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref ICD10CM:D81.818 semapv:UnspecifiedMatching DOID:859 holocarboxylase synthetase deficiency oboInOwl:hasDbXref GARD:2721 semapv:UnspecifiedMatching @@ -30142,23 +30168,23 @@ DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.1 semapv:Unsp DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref MESH:D007951 semapv:UnspecifiedMatching DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref NCI:C34774 semapv:UnspecifiedMatching DOID:8593 chronic monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023466 semapv:UnspecifiedMatching -DOID:8596 scarlet fever oboInOwl:hasDbXref NCI:C94575 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref UMLS_CUI:C0343487 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref UMLS_CUI:C0036285 semapv:UnspecifiedMatching -DOID:8596 scarlet fever oboInOwl:hasDbXref MESH:D012541 semapv:UnspecifiedMatching +DOID:8596 scarlet fever oboInOwl:hasDbXref NCI:C94575 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref ICD9CM:034.1 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref ICD9CM:034 semapv:UnspecifiedMatching DOID:8596 scarlet fever oboInOwl:hasDbXref ICD10CM:A38 semapv:UnspecifiedMatching +DOID:8596 scarlet fever oboInOwl:hasDbXref MESH:D012541 semapv:UnspecifiedMatching DOID:8601 upper gum cancer oboInOwl:hasDbXref ICD10CM:C03.0 semapv:UnspecifiedMatching DOID:8601 upper gum cancer oboInOwl:hasDbXref ICD9CM:143.0 semapv:UnspecifiedMatching DOID:8601 upper gum cancer oboInOwl:hasDbXref UMLS_CUI:C0153365 semapv:UnspecifiedMatching +DOID:8602 gum cancer oboInOwl:hasDbXref UMLS_CUI:C0153364 semapv:UnspecifiedMatching DOID:8602 gum cancer oboInOwl:hasDbXref ICD10CM:C03 semapv:UnspecifiedMatching DOID:8602 gum cancer oboInOwl:hasDbXref ICD9CM:143 semapv:UnspecifiedMatching DOID:8602 gum cancer oboInOwl:hasDbXref NCI:C9317 semapv:UnspecifiedMatching -DOID:8602 gum cancer oboInOwl:hasDbXref UMLS_CUI:C0153364 semapv:UnspecifiedMatching -DOID:8607 herpetic whitlow oboInOwl:hasDbXref ICD9CM:054.6 semapv:UnspecifiedMatching DOID:8607 herpetic whitlow oboInOwl:hasDbXref NCI:C128402 semapv:UnspecifiedMatching DOID:8607 herpetic whitlow oboInOwl:hasDbXref UMLS_CUI:C0153042 semapv:UnspecifiedMatching +DOID:8607 herpetic whitlow oboInOwl:hasDbXref ICD9CM:054.6 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref UMLS_CUI:C0030848 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref OMIM:171000 semapv:UnspecifiedMatching DOID:8616 Peyronie's disease oboInOwl:hasDbXref NCI:C3316 semapv:UnspecifiedMatching @@ -30210,12 +30236,12 @@ DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5842 semapv:UnspecifiedMatchi DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153561 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153560 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0036220 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C6377 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C7006 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C6749 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C9087 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C7006 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153562 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C6377 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335509 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C9087 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153563 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1332265 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153565 semapv:UnspecifiedMatching @@ -30230,7 +30256,7 @@ DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1334457 semapv:Unspecifi DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335372 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref UMLS_CUI:C0153564 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5706 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5363 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C3550 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5529 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref GARD:6814 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46 semapv:UnspecifiedMatching @@ -30239,78 +30265,78 @@ DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.1 semapv:UnspecifiedMa DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.2 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.3 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.4 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.5 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.0 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.1 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD10CM:C46.5 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.0 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.3 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5523 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.2 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C4578 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C3551 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C3550 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C4579 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref MESH:D012514 semapv:UnspecifiedMatching -DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.5 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.4 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.5 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref MESH:D012514 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C27500 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C3551 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C4578 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C4579 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5363 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5523 semapv:UnspecifiedMatching +DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref ICD9CM:176.2 semapv:UnspecifiedMatching DOID:8632 Kaposi's sarcoma oboInOwl:hasDbXref NCI:C5602 semapv:UnspecifiedMatching -DOID:8633 chronic intestinal vascular insufficiency oboInOwl:hasDbXref ICD9CM:557.1 semapv:UnspecifiedMatching DOID:8633 chronic intestinal vascular insufficiency oboInOwl:hasDbXref UMLS_CUI:C0311262 semapv:UnspecifiedMatching +DOID:8633 chronic intestinal vascular insufficiency oboInOwl:hasDbXref ICD9CM:557.1 semapv:UnspecifiedMatching +DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154088 semapv:UnspecifiedMatching DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.5 semapv:UnspecifiedMatching DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.4 semapv:UnspecifiedMatching -DOID:8634 prostate carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154088 semapv:UnspecifiedMatching +DOID:8635 uvula cancer oboInOwl:hasDbXref ICD10CM:C05.2 semapv:UnspecifiedMatching +DOID:8635 uvula cancer oboInOwl:hasDbXref ICD9CM:145.4 semapv:UnspecifiedMatching DOID:8635 uvula cancer oboInOwl:hasDbXref NCI:C35177 semapv:UnspecifiedMatching DOID:8635 uvula cancer oboInOwl:hasDbXref UMLS_CUI:C0153377 semapv:UnspecifiedMatching -DOID:8635 uvula cancer oboInOwl:hasDbXref ICD9CM:145.4 semapv:UnspecifiedMatching -DOID:8635 uvula cancer oboInOwl:hasDbXref ICD10CM:C05.2 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref ICD10CM:I80 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref MESH:D010689 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref NCI:C38003 semapv:UnspecifiedMatching DOID:864 phlebitis oboInOwl:hasDbXref UMLS_CUI:C0031542 semapv:UnspecifiedMatching -DOID:8643 duodenitis oboInOwl:hasDbXref ICD10CM:K29.8 semapv:UnspecifiedMatching -DOID:8643 duodenitis oboInOwl:hasDbXref ICD9CM:535.6 semapv:UnspecifiedMatching -DOID:8643 duodenitis oboInOwl:hasDbXref MESH:D004382 semapv:UnspecifiedMatching DOID:8643 duodenitis oboInOwl:hasDbXref NCI:C94409 semapv:UnspecifiedMatching DOID:8643 duodenitis oboInOwl:hasDbXref UMLS_CUI:C0013298 semapv:UnspecifiedMatching +DOID:8643 duodenitis oboInOwl:hasDbXref ICD9CM:535.6 semapv:UnspecifiedMatching +DOID:8643 duodenitis oboInOwl:hasDbXref ICD10CM:K29.8 semapv:UnspecifiedMatching +DOID:8643 duodenitis oboInOwl:hasDbXref MESH:D004382 semapv:UnspecifiedMatching DOID:8644 gastroduodenitis oboInOwl:hasDbXref ICD9CM:535.4 semapv:UnspecifiedMatching DOID:8644 gastroduodenitis oboInOwl:hasDbXref UMLS_CUI:C0029800 semapv:UnspecifiedMatching +DOID:8645 subacute delirium oboInOwl:hasDbXref ICD9CM:293.1 semapv:UnspecifiedMatching DOID:8645 subacute delirium oboInOwl:hasDbXref MESH:D003693 semapv:UnspecifiedMatching DOID:8645 subacute delirium oboInOwl:hasDbXref UMLS_CUI:C0154333 semapv:UnspecifiedMatching -DOID:8645 subacute delirium oboInOwl:hasDbXref ICD9CM:293.1 semapv:UnspecifiedMatching -DOID:8646 substance-induced psychosis oboInOwl:hasDbXref ICD9CM:293.89 semapv:UnspecifiedMatching DOID:8646 substance-induced psychosis oboInOwl:hasDbXref UMLS_CUI:C0154334 semapv:UnspecifiedMatching +DOID:8646 substance-induced psychosis oboInOwl:hasDbXref ICD9CM:293.89 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref NCI:C9345 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153349 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref MESH:D014062 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref NCI:C3524 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0684333 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153349 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153350 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.6 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153351 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153356 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0474963 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0496755 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153350 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0684333 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref UMLS_CUI:C0153351 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.5 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.2 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref GARD:7779 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.2 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C01 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.0 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.1 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.2 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.3 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.4 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.9 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.0 semapv:UnspecifiedMatching DOID:8649 tongue cancer oboInOwl:hasDbXref ICD9CM:141.1 semapv:UnspecifiedMatching -DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.2 semapv:UnspecifiedMatching +DOID:8649 tongue cancer oboInOwl:hasDbXref ICD10CM:C02.4 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref GARD:9565 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref MESH:D014657 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref NCI:C26912 semapv:UnspecifiedMatching DOID:865 vasculitis oboInOwl:hasDbXref UMLS_CUI:C0042384 semapv:UnspecifiedMatching -DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref NCI:C3517 semapv:UnspecifiedMatching -DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref UMLS_CUI:C0152266 semapv:UnspecifiedMatching +DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching +DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref NCI:C3517 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref ICD10CM:C81.2 semapv:UnspecifiedMatching DOID:8654 Hodgkin's lymphoma, mixed cellularity oboInOwl:hasDbXref ICD9CM:201.6 semapv:UnspecifiedMatching DOID:8659 chickenpox oboInOwl:hasDbXref ICD10CM:B01.9 semapv:UnspecifiedMatching @@ -30323,9 +30349,9 @@ DOID:866 vein disease oboInOwl:hasDbXref ICD10CM:I82 semapv:UnspecifiedMatching DOID:866 vein disease oboInOwl:hasDbXref ICD9CM:453 semapv:UnspecifiedMatching DOID:866 vein disease oboInOwl:hasDbXref UMLS_CUI:C0155774 semapv:UnspecifiedMatching DOID:8660 postcricoid region cancer oboInOwl:hasDbXref UMLS_CUI:C0496769 semapv:UnspecifiedMatching -DOID:8660 postcricoid region cancer oboInOwl:hasDbXref ICD10CM:C13.0 semapv:UnspecifiedMatching -DOID:8660 postcricoid region cancer oboInOwl:hasDbXref ICD9CM:148.0 semapv:UnspecifiedMatching DOID:8660 postcricoid region cancer oboInOwl:hasDbXref NCI:C9323 semapv:UnspecifiedMatching +DOID:8660 postcricoid region cancer oboInOwl:hasDbXref ICD9CM:148.0 semapv:UnspecifiedMatching +DOID:8660 postcricoid region cancer oboInOwl:hasDbXref ICD10CM:C13.0 semapv:UnspecifiedMatching DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154058 semapv:UnspecifiedMatching DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref ICD10CM:D00.0 semapv:UnspecifiedMatching DOID:8661 lip carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.0 semapv:UnspecifiedMatching @@ -30353,11 +30379,12 @@ DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref MESH:D020364 semapv:U DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref NCI:C3981 semapv:UnspecifiedMatching DOID:8681 paraneoplastic polyneuropathy oboInOwl:hasDbXref UMLS_CUI:C0270932 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref NCI:C35815 semapv:UnspecifiedMatching -DOID:8683 myeloid sarcoma oboInOwl:hasDbXref MESH:D023981 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref UMLS_CUI:C0152276 semapv:UnspecifiedMatching +DOID:8683 myeloid sarcoma oboInOwl:hasDbXref MESH:D023981 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref ICD10CM:C92.3 semapv:UnspecifiedMatching -DOID:8683 myeloid sarcoma oboInOwl:hasDbXref GARD:12763 semapv:UnspecifiedMatching DOID:8683 myeloid sarcoma oboInOwl:hasDbXref ICDO:9930/3 semapv:UnspecifiedMatching +DOID:8683 myeloid sarcoma oboInOwl:hasDbXref GARD:12763 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.6 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0347139 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154081 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154080 semapv:UnspecifiedMatching @@ -30368,27 +30395,26 @@ DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154074 semapv:Uns DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154073 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref NCI:C3640 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.7 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.6 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.5 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.3 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.0 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.4 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.3 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.4 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.2 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.7 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232 semapv:UnspecifiedMatching -DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.0 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.3 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.2 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.0 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.7 semapv:UnspecifiedMatching DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.6 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.4 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD9CM:232.4 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.2 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04.0 semapv:UnspecifiedMatching +DOID:8687 skin carcinoma in situ oboInOwl:hasDbXref ICD10CM:D04 semapv:UnspecifiedMatching DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref ICD10CM:C09.1 semapv:UnspecifiedMatching DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref ICD9CM:146.2 semapv:UnspecifiedMatching DOID:8688 tonsillar pillar cancer oboInOwl:hasDbXref UMLS_CUI:C0153385 semapv:UnspecifiedMatching -DOID:8689 anorexia nervosa oboInOwl:hasDbXref UMLS_CUI:C0003125 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref NCI:C34387 semapv:UnspecifiedMatching -DOID:8689 anorexia nervosa oboInOwl:hasDbXref ICD10CM:F50.0 semapv:UnspecifiedMatching +DOID:8689 anorexia nervosa oboInOwl:hasDbXref UMLS_CUI:C0003125 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref ICD9CM:307.1 semapv:UnspecifiedMatching +DOID:8689 anorexia nervosa oboInOwl:hasDbXref ICD10CM:F50.0 semapv:UnspecifiedMatching DOID:8689 anorexia nervosa oboInOwl:hasDbXref MESH:D000856 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref GARD:10422 semapv:UnspecifiedMatching DOID:869 cholesteatoma oboInOwl:hasDbXref ICD10CM:H71.9 semapv:UnspecifiedMatching @@ -30413,141 +30439,141 @@ DOID:8692 myeloid leukemia oboInOwl:hasDbXref GARD:8226 semapv:UnspecifiedMatchi DOID:8692 myeloid leukemia oboInOwl:hasDbXref ICD9CM:205 semapv:UnspecifiedMatching DOID:8696 subacute monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.2 semapv:UnspecifiedMatching DOID:8696 subacute monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0152275 semapv:UnspecifiedMatching -DOID:870 neuropathy oboInOwl:hasDbXref UMLS_CUI:C0442874 semapv:UnspecifiedMatching DOID:870 neuropathy oboInOwl:hasDbXref ICD10CM:G62.9 semapv:UnspecifiedMatching DOID:870 neuropathy oboInOwl:hasDbXref NCI:C4731 semapv:UnspecifiedMatching +DOID:870 neuropathy oboInOwl:hasDbXref UMLS_CUI:C0442874 semapv:UnspecifiedMatching DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref UMLS_CUI:C0153373 semapv:UnspecifiedMatching DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref NCI:C9320 semapv:UnspecifiedMatching -DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref ICD9CM:145.0 semapv:UnspecifiedMatching DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref ICD10CM:C06.0 semapv:UnspecifiedMatching -DOID:8704 genital herpes oboInOwl:hasDbXref UMLS_CUI:C0019342 semapv:UnspecifiedMatching -DOID:8704 genital herpes oboInOwl:hasDbXref NCI:C14364 semapv:UnspecifiedMatching -DOID:8704 genital herpes oboInOwl:hasDbXref MESH:D006558 semapv:UnspecifiedMatching +DOID:8702 cheek mucosa cancer oboInOwl:hasDbXref ICD9CM:145.0 semapv:UnspecifiedMatching DOID:8704 genital herpes oboInOwl:hasDbXref ICD9CM:054.1 semapv:UnspecifiedMatching +DOID:8704 genital herpes oboInOwl:hasDbXref MESH:D006558 semapv:UnspecifiedMatching +DOID:8704 genital herpes oboInOwl:hasDbXref NCI:C14364 semapv:UnspecifiedMatching +DOID:8704 genital herpes oboInOwl:hasDbXref UMLS_CUI:C0019342 semapv:UnspecifiedMatching +DOID:8712 neurofibromatosis oboInOwl:hasDbXref ORDO:93921 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref GARD:10420 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref ICD10CM:Q85.00 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref ICD9CM:237.7 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref MESH:D017253 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref NCI:C6727 semapv:UnspecifiedMatching -DOID:8712 neurofibromatosis oboInOwl:hasDbXref ORDO:93921 semapv:UnspecifiedMatching DOID:8712 neurofibromatosis oboInOwl:hasDbXref UMLS_CUI:C0162678 semapv:UnspecifiedMatching +DOID:8717 decubitus ulcer oboInOwl:hasDbXref UMLS_CUI:C0011127 semapv:UnspecifiedMatching +DOID:8717 decubitus ulcer oboInOwl:hasDbXref NCI:C50706 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref ICD10CM:L89 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref ICD9CM:707.0 semapv:UnspecifiedMatching DOID:8717 decubitus ulcer oboInOwl:hasDbXref MESH:D003668 semapv:UnspecifiedMatching -DOID:8717 decubitus ulcer oboInOwl:hasDbXref NCI:C50706 semapv:UnspecifiedMatching -DOID:8717 decubitus ulcer oboInOwl:hasDbXref UMLS_CUI:C0011127 semapv:UnspecifiedMatching -DOID:8719 in situ carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007099 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref NCI:C2917 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref ICD10CM:D09.9 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref ICD9CM:230-234.99 semapv:UnspecifiedMatching DOID:8719 in situ carcinoma oboInOwl:hasDbXref MESH:D002278 semapv:UnspecifiedMatching +DOID:8719 in situ carcinoma oboInOwl:hasDbXref UMLS_CUI:C0007099 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS_CUI:C0011263 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS_CUI:C0011269 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref ICD10CM:F01 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref ICD9CM:290.4 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref MESH:D015140 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref MESH:D015161 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref NCI:C34522 semapv:UnspecifiedMatching DOID:8725 vascular dementia oboInOwl:hasDbXref NCI:C34525 semapv:UnspecifiedMatching -DOID:8725 vascular dementia oboInOwl:hasDbXref UMLS_CUI:C0011263 semapv:UnspecifiedMatching -DOID:8729 milker's nodule oboInOwl:hasDbXref MESH:D011213 semapv:UnspecifiedMatching -DOID:8729 milker's nodule oboInOwl:hasDbXref UMLS_CUI:C0026143 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref MESH:D015140 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref MESH:D015161 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref ICD9CM:290.4 semapv:UnspecifiedMatching +DOID:8725 vascular dementia oboInOwl:hasDbXref ICD10CM:F01 semapv:UnspecifiedMatching DOID:8729 milker's nodule oboInOwl:hasDbXref ICD10CM:B08.04 semapv:UnspecifiedMatching DOID:8729 milker's nodule oboInOwl:hasDbXref ICD9CM:051.9 semapv:UnspecifiedMatching -DOID:873 anaerobic pneumonia oboInOwl:hasDbXref ICD9CM:482.81 semapv:UnspecifiedMatching +DOID:8729 milker's nodule oboInOwl:hasDbXref MESH:D011213 semapv:UnspecifiedMatching +DOID:8729 milker's nodule oboInOwl:hasDbXref UMLS_CUI:C0026143 semapv:UnspecifiedMatching DOID:873 anaerobic pneumonia oboInOwl:hasDbXref UMLS_CUI:C0375327 semapv:UnspecifiedMatching +DOID:873 anaerobic pneumonia oboInOwl:hasDbXref ICD9CM:482.81 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref ICD10CM:C75.4 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref ICD9CM:194.5 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref NCI:C3574 semapv:UnspecifiedMatching DOID:8731 carotid body cancer oboInOwl:hasDbXref UMLS_CUI:C0153656 semapv:UnspecifiedMatching +DOID:8736 smallpox oboInOwl:hasDbXref UMLS_CUI:C0037354 semapv:UnspecifiedMatching +DOID:8736 smallpox oboInOwl:hasDbXref NCI:C35027 semapv:UnspecifiedMatching +DOID:8736 smallpox oboInOwl:hasDbXref MESH:D012899 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref GARD:7444 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref ICD10CM:B03 semapv:UnspecifiedMatching DOID:8736 smallpox oboInOwl:hasDbXref ICD9CM:050 semapv:UnspecifiedMatching -DOID:8736 smallpox oboInOwl:hasDbXref MESH:D012899 semapv:UnspecifiedMatching -DOID:8736 smallpox oboInOwl:hasDbXref NCI:C35027 semapv:UnspecifiedMatching -DOID:8736 smallpox oboInOwl:hasDbXref UMLS_CUI:C0037354 semapv:UnspecifiedMatching -DOID:8738 leukoplakia of penis oboInOwl:hasDbXref UMLS_CUI:C0022782 semapv:UnspecifiedMatching -DOID:8738 leukoplakia of penis oboInOwl:hasDbXref NCI:C3151 semapv:UnspecifiedMatching -DOID:8738 leukoplakia of penis oboInOwl:hasDbXref ICD9CM:607.0 semapv:UnspecifiedMatching DOID:8738 leukoplakia of penis oboInOwl:hasDbXref ICD10CM:N48.0 semapv:UnspecifiedMatching +DOID:8738 leukoplakia of penis oboInOwl:hasDbXref ICD9CM:607.0 semapv:UnspecifiedMatching DOID:8738 leukoplakia of penis oboInOwl:hasDbXref MESH:D052798 semapv:UnspecifiedMatching +DOID:8738 leukoplakia of penis oboInOwl:hasDbXref NCI:C3151 semapv:UnspecifiedMatching +DOID:8738 leukoplakia of penis oboInOwl:hasDbXref UMLS_CUI:C0022782 semapv:UnspecifiedMatching +DOID:874 bacterial pneumonia oboInOwl:hasDbXref NCI:C26704 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref ICD10CM:J15.9 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref ICD9CM:482.9 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref MESH:D018410 semapv:UnspecifiedMatching -DOID:874 bacterial pneumonia oboInOwl:hasDbXref NCI:C26704 semapv:UnspecifiedMatching DOID:874 bacterial pneumonia oboInOwl:hasDbXref UMLS_CUI:C0004626 semapv:UnspecifiedMatching -DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref ICD10CM:L21 semapv:UnspecifiedMatching -DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref ICD9CM:690.1 semapv:UnspecifiedMatching +DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0036508 semapv:UnspecifiedMatching DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref MESH:D012628 semapv:UnspecifiedMatching DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref NCI:C111888 semapv:UnspecifiedMatching -DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref UMLS_CUI:C0036508 semapv:UnspecifiedMatching -DOID:8743 erythema infectiosum oboInOwl:hasDbXref UMLS_CUI:C0085273 semapv:UnspecifiedMatching -DOID:8743 erythema infectiosum oboInOwl:hasDbXref NCI:C84695 semapv:UnspecifiedMatching -DOID:8743 erythema infectiosum oboInOwl:hasDbXref ICD9CM:057.0 semapv:UnspecifiedMatching +DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref ICD10CM:L21 semapv:UnspecifiedMatching +DOID:8741 seborrheic dermatitis oboInOwl:hasDbXref ICD9CM:690.1 semapv:UnspecifiedMatching DOID:8743 erythema infectiosum oboInOwl:hasDbXref ICD10CM:B08.3 semapv:UnspecifiedMatching +DOID:8743 erythema infectiosum oboInOwl:hasDbXref ICD9CM:057.0 semapv:UnspecifiedMatching DOID:8743 erythema infectiosum oboInOwl:hasDbXref MESH:D016731 semapv:UnspecifiedMatching +DOID:8743 erythema infectiosum oboInOwl:hasDbXref NCI:C84695 semapv:UnspecifiedMatching +DOID:8743 erythema infectiosum oboInOwl:hasDbXref UMLS_CUI:C0085273 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref ICD10CM:K29.6 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref ICD9CM:535.2 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref MESH:D005758 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref NCI:C67277 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref OMIM:137280 semapv:UnspecifiedMatching DOID:8757 gastric mucosal hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0017155 semapv:UnspecifiedMatching -DOID:876 pyomyositis oboInOwl:hasDbXref NCI:C128382 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref MESH:D052880 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref UMLS_CUI:C0041188 semapv:UnspecifiedMatching -DOID:876 pyomyositis oboInOwl:hasDbXref ICD10CM:M60.0 semapv:UnspecifiedMatching +DOID:876 pyomyositis oboInOwl:hasDbXref NCI:C128382 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref GARD:4614 semapv:UnspecifiedMatching +DOID:876 pyomyositis oboInOwl:hasDbXref ICD10CM:M60.0 semapv:UnspecifiedMatching DOID:876 pyomyositis oboInOwl:hasDbXref ICD9CM:040.81 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023462 semapv:UnspecifiedMatching -DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref MESH:D007947 semapv:UnspecifiedMatching -DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICDO:9910/3 semapv:UnspecifiedMatching -DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref NCI:C3170 semapv:UnspecifiedMatching -DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICD10CM:C94.2 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref GARD:524 semapv:UnspecifiedMatching +DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICD10CM:C94.2 semapv:UnspecifiedMatching DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICD9CM:207.2 semapv:UnspecifiedMatching +DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref ICDO:9910/3 semapv:UnspecifiedMatching +DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref MESH:D007947 semapv:UnspecifiedMatching +DOID:8761 acute megakaryocytic leukemia oboInOwl:hasDbXref NCI:C3170 semapv:UnspecifiedMatching +DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref UMLS_CUI:C0013570 semapv:UnspecifiedMatching +DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref MESH:D004474 semapv:UnspecifiedMatching DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref ICD10CM:B08.02 semapv:UnspecifiedMatching DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref ICD9CM:051.2 semapv:UnspecifiedMatching -DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref MESH:D004474 semapv:UnspecifiedMatching -DOID:8771 contagious pustular dermatitis oboInOwl:hasDbXref UMLS_CUI:C0013570 semapv:UnspecifiedMatching -DOID:8778 Crohn's disease oboInOwl:hasDbXref MESH:D003424 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref UMLS_CUI:C0156147 semapv:UnspecifiedMatching -DOID:8778 Crohn's disease oboInOwl:hasDbXref ICD9CM:555.1 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref NCI:C37262 semapv:UnspecifiedMatching -DOID:8778 Crohn's disease oboInOwl:hasDbXref GARD:10232 semapv:UnspecifiedMatching +DOID:8778 Crohn's disease oboInOwl:hasDbXref MESH:D003424 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref EFO:0000384 semapv:UnspecifiedMatching DOID:8778 Crohn's disease oboInOwl:hasDbXref ICD10CM:K50.1 semapv:UnspecifiedMatching +DOID:8778 Crohn's disease oboInOwl:hasDbXref GARD:10232 semapv:UnspecifiedMatching +DOID:8778 Crohn's disease oboInOwl:hasDbXref ICD9CM:555.1 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref GARD:4742 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref ICD10CM:B06.9 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref ICD9CM:056 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref MESH:D012409 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref NCI:C85051 semapv:UnspecifiedMatching DOID:8781 rubella oboInOwl:hasDbXref UMLS_CUI:C0035920 semapv:UnspecifiedMatching -DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.1 semapv:UnspecifiedMatching DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref ICD9CM:363.1 semapv:UnspecifiedMatching DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0154879 semapv:UnspecifiedMatching -DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154084 semapv:UnspecifiedMatching -DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref MESH:D000071960 semapv:UnspecifiedMatching -DOID:8791 breast carcinoma in situ skos:exactMatch MESH:D000071960 semapv:UnspecifiedMatching +DOID:8787 disseminated chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.1 semapv:UnspecifiedMatching DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref ICD10CM:D05 semapv:UnspecifiedMatching DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.0 semapv:UnspecifiedMatching +DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref MESH:D000071960 semapv:UnspecifiedMatching +DOID:8791 breast carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154084 semapv:UnspecifiedMatching +DOID:8791 breast carcinoma in situ skos:exactMatch MESH:D000071960 semapv:UnspecifiedMatching DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.2 semapv:UnspecifiedMatching DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref ICD9CM:234.0 semapv:UnspecifiedMatching DOID:8792 eye carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154094 semapv:UnspecifiedMatching +DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154071 semapv:UnspecifiedMatching DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.2 semapv:UnspecifiedMatching DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.2 semapv:UnspecifiedMatching -DOID:8800 lung carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154071 semapv:UnspecifiedMatching -DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154070 semapv:UnspecifiedMatching +DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.1 semapv:UnspecifiedMatching DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref NCI:C3639 semapv:UnspecifiedMatching DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.1 semapv:UnspecifiedMatching -DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.1 semapv:UnspecifiedMatching -DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref ICD10CM:I20.0 semapv:UnspecifiedMatching -DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref ICD9CM:411.1 semapv:UnspecifiedMatching +DOID:8802 trachea carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154070 semapv:UnspecifiedMatching +DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref UMLS_CUI:C0002965 semapv:UnspecifiedMatching DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref MESH:D000789 semapv:UnspecifiedMatching DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref NCI:C66911 semapv:UnspecifiedMatching -DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref UMLS_CUI:C0002965 semapv:UnspecifiedMatching -DOID:882 heterophyiasis oboInOwl:hasDbXref UMLS_CUI:C0152071 semapv:UnspecifiedMatching -DOID:882 heterophyiasis oboInOwl:hasDbXref NCI:C128389 semapv:UnspecifiedMatching +DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref ICD10CM:I20.0 semapv:UnspecifiedMatching +DOID:8805 intermediate coronary syndrome oboInOwl:hasDbXref ICD9CM:411.1 semapv:UnspecifiedMatching DOID:882 heterophyiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching DOID:882 heterophyiasis oboInOwl:hasDbXref ICD9CM:121.6 semapv:UnspecifiedMatching +DOID:882 heterophyiasis oboInOwl:hasDbXref NCI:C128389 semapv:UnspecifiedMatching +DOID:882 heterophyiasis oboInOwl:hasDbXref UMLS_CUI:C0152071 semapv:UnspecifiedMatching DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.0 semapv:UnspecifiedMatching DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.3 semapv:UnspecifiedMatching DOID:8826 colon carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154061 semapv:UnspecifiedMatching @@ -30556,171 +30582,171 @@ DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref ICD9CM:12 DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref MESH:D006373 semapv:UnspecifiedMatching DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref NCI:C84751 semapv:UnspecifiedMatching DOID:883 parasitic helminthiasis infectious disease oboInOwl:hasDbXref UMLS_CUI:C0018889 semapv:UnspecifiedMatching +DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref UMLS_CUI:C0152268 semapv:UnspecifiedMatching +DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref NCI:C3518 semapv:UnspecifiedMatching DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref ICD10CM:C81.1 semapv:UnspecifiedMatching DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref ICD9CM:201.5 semapv:UnspecifiedMatching -DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref NCI:C3518 semapv:UnspecifiedMatching -DOID:8838 Hodgkin's lymphoma, nodular sclerosis oboInOwl:hasDbXref UMLS_CUI:C0152268 semapv:UnspecifiedMatching -DOID:884 metagonimiasis oboInOwl:hasDbXref UMLS_CUI:C0025530 semapv:UnspecifiedMatching -DOID:884 metagonimiasis oboInOwl:hasDbXref NCI:C128390 semapv:UnspecifiedMatching -DOID:884 metagonimiasis oboInOwl:hasDbXref MESH:D014201 semapv:UnspecifiedMatching -DOID:884 metagonimiasis oboInOwl:hasDbXref ICD9CM:121.5 semapv:UnspecifiedMatching DOID:884 metagonimiasis oboInOwl:hasDbXref ICD10CM:B66.8 semapv:UnspecifiedMatching +DOID:884 metagonimiasis oboInOwl:hasDbXref ICD9CM:121.5 semapv:UnspecifiedMatching +DOID:884 metagonimiasis oboInOwl:hasDbXref MESH:D014201 semapv:UnspecifiedMatching +DOID:884 metagonimiasis oboInOwl:hasDbXref NCI:C128390 semapv:UnspecifiedMatching +DOID:884 metagonimiasis oboInOwl:hasDbXref UMLS_CUI:C0025530 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref ICD10CM:C08.1 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref ICD9CM:142.2 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref NCI:C3527 semapv:UnspecifiedMatching DOID:8849 sublingual gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153361 semapv:UnspecifiedMatching -DOID:885 fascioliasis oboInOwl:hasDbXref UMLS_CUI:C0015652 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref NCI:C128387 semapv:UnspecifiedMatching +DOID:885 fascioliasis oboInOwl:hasDbXref UMLS_CUI:C0015652 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref MESH:D005211 semapv:UnspecifiedMatching -DOID:885 fascioliasis oboInOwl:hasDbXref ICD9CM:121.3 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref ICD10CM:B66.3 semapv:UnspecifiedMatching DOID:885 fascioliasis oboInOwl:hasDbXref GARD:6428 semapv:UnspecifiedMatching +DOID:885 fascioliasis oboInOwl:hasDbXref ICD9CM:121.3 semapv:UnspecifiedMatching DOID:8850 salivary gland cancer oboInOwl:hasDbXref ICD10CM:C08 semapv:UnspecifiedMatching DOID:8850 salivary gland cancer oboInOwl:hasDbXref ICD9CM:142.8 semapv:UnspecifiedMatching DOID:8850 salivary gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153362 semapv:UnspecifiedMatching -DOID:8857 lupus erythematosus oboInOwl:hasDbXref UMLS_CUI:C0409974 semapv:UnspecifiedMatching -DOID:8857 lupus erythematosus oboInOwl:hasDbXref NCI:C27153 semapv:UnspecifiedMatching DOID:8857 lupus erythematosus oboInOwl:hasDbXref ICD10CM:L93 semapv:UnspecifiedMatching DOID:8857 lupus erythematosus oboInOwl:hasDbXref ICD9CM:695.4 semapv:UnspecifiedMatching -DOID:8858 tonsil cancer oboInOwl:hasDbXref ICD10CM:C09 semapv:UnspecifiedMatching -DOID:8858 tonsil cancer oboInOwl:hasDbXref ICD9CM:146.0 semapv:UnspecifiedMatching +DOID:8857 lupus erythematosus oboInOwl:hasDbXref NCI:C27153 semapv:UnspecifiedMatching +DOID:8857 lupus erythematosus oboInOwl:hasDbXref UMLS_CUI:C0409974 semapv:UnspecifiedMatching +DOID:8858 tonsil cancer oboInOwl:hasDbXref UMLS_CUI:C0751560 semapv:UnspecifiedMatching DOID:8858 tonsil cancer oboInOwl:hasDbXref MESH:D014067 semapv:UnspecifiedMatching DOID:8858 tonsil cancer oboInOwl:hasDbXref NCI:C7404 semapv:UnspecifiedMatching -DOID:8858 tonsil cancer oboInOwl:hasDbXref UMLS_CUI:C0751560 semapv:UnspecifiedMatching +DOID:8858 tonsil cancer oboInOwl:hasDbXref ICD10CM:C09 semapv:UnspecifiedMatching +DOID:8858 tonsil cancer oboInOwl:hasDbXref ICD9CM:146.0 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref ICD10CM:Q24.3 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref ICD9CM:746.83 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref MESH:D011662 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref NCI:C34961 semapv:UnspecifiedMatching DOID:8861 pulmonary subvalvular stenosis oboInOwl:hasDbXref UMLS_CUI:C0034084 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref OMIM:151380 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023465 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICDO:9891/3 semapv:UnspecifiedMatching -DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.0 semapv:UnspecifiedMatching DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref GARD:525 semapv:UnspecifiedMatching -DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD10CM:L57.0 semapv:UnspecifiedMatching -DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD9CM:702.0 semapv:UnspecifiedMatching -DOID:8866 actinic keratosis oboInOwl:hasDbXref ICDO:8070/0 semapv:UnspecifiedMatching -DOID:8866 actinic keratosis oboInOwl:hasDbXref MESH:D055623 semapv:UnspecifiedMatching +DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICD9CM:206.0 semapv:UnspecifiedMatching +DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref ICDO:9891/3 semapv:UnspecifiedMatching +DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref MESH:D007948 semapv:UnspecifiedMatching +DOID:8864 acute monocytic leukemia oboInOwl:hasDbXref UMLS_CUI:C0023465 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref NCI:C3148 semapv:UnspecifiedMatching +DOID:8866 actinic keratosis oboInOwl:hasDbXref MESH:D055623 semapv:UnspecifiedMatching DOID:8866 actinic keratosis oboInOwl:hasDbXref UMLS_CUI:C0022602 semapv:UnspecifiedMatching +DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD9CM:702.0 semapv:UnspecifiedMatching +DOID:8866 actinic keratosis oboInOwl:hasDbXref ICD10CM:L57.0 semapv:UnspecifiedMatching +DOID:8866 actinic keratosis oboInOwl:hasDbXref ICDO:8070/0 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref ICD10CM:B08.1 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref ICD9CM:078.0 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref MESH:D008976 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref NCI:C155872 semapv:UnspecifiedMatching DOID:8867 molluscum contagiosum oboInOwl:hasDbXref UMLS_CUI:C0026393 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref NCI:C84934 semapv:UnspecifiedMatching -DOID:8869 neuromyelitis optica oboInOwl:hasDbXref UMLS_CUI:C0027873 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref MESH:D009471 semapv:UnspecifiedMatching -DOID:8869 neuromyelitis optica oboInOwl:hasDbXref GARD:6267 semapv:UnspecifiedMatching -DOID:8869 neuromyelitis optica oboInOwl:hasDbXref ICD10CM:G36.0 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref ICD9CM:341.0 semapv:UnspecifiedMatching +DOID:8869 neuromyelitis optica oboInOwl:hasDbXref UMLS_CUI:C0027873 semapv:UnspecifiedMatching +DOID:8869 neuromyelitis optica oboInOwl:hasDbXref GARD:6267 semapv:UnspecifiedMatching DOID:8869 neuromyelitis optica oboInOwl:hasDbXref EFO:0004256 semapv:UnspecifiedMatching +DOID:8869 neuromyelitis optica oboInOwl:hasDbXref ICD10CM:G36.0 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref ICD10CM:D07.4 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.5 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref NCI:C27790 semapv:UnspecifiedMatching DOID:8872 penis carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154089 semapv:UnspecifiedMatching -DOID:888 fasciolopsiasis oboInOwl:hasDbXref ICD10CM:B66.5 semapv:UnspecifiedMatching +DOID:888 fasciolopsiasis oboInOwl:hasDbXref UMLS_CUI:C0015656 semapv:UnspecifiedMatching +DOID:888 fasciolopsiasis oboInOwl:hasDbXref NCI:C128388 semapv:UnspecifiedMatching DOID:888 fasciolopsiasis oboInOwl:hasDbXref ICD9CM:121.4 semapv:UnspecifiedMatching +DOID:888 fasciolopsiasis oboInOwl:hasDbXref ICD10CM:B66.5 semapv:UnspecifiedMatching DOID:888 fasciolopsiasis oboInOwl:hasDbXref MESH:D014201 semapv:UnspecifiedMatching -DOID:888 fasciolopsiasis oboInOwl:hasDbXref NCI:C128388 semapv:UnspecifiedMatching -DOID:888 fasciolopsiasis oboInOwl:hasDbXref UMLS_CUI:C0015656 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref UMLS_CUI:C0035854 semapv:UnspecifiedMatching -DOID:8881 rosacea oboInOwl:hasDbXref NCI:C97136 semapv:UnspecifiedMatching -DOID:8881 rosacea oboInOwl:hasDbXref ICD9CM:695.3 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref ICD10CM:L71 semapv:UnspecifiedMatching +DOID:8881 rosacea oboInOwl:hasDbXref ICD9CM:695.3 semapv:UnspecifiedMatching DOID:8881 rosacea oboInOwl:hasDbXref MESH:D012393 semapv:UnspecifiedMatching -DOID:8883 lower lip cancer oboInOwl:hasDbXref ICD10CM:C00.1 semapv:UnspecifiedMatching +DOID:8881 rosacea oboInOwl:hasDbXref NCI:C97136 semapv:UnspecifiedMatching DOID:8883 lower lip cancer oboInOwl:hasDbXref ICD9CM:140.1 semapv:UnspecifiedMatching DOID:8883 lower lip cancer oboInOwl:hasDbXref UMLS_CUI:C0432520 semapv:UnspecifiedMatching +DOID:8883 lower lip cancer oboInOwl:hasDbXref ICD10CM:C00.1 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref GARD:6060 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref ICD10CM:H30.9 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref ICD9CM:363.20 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref MESH:D002825 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref NCI:C110923 semapv:UnspecifiedMatching DOID:8886 chorioretinitis oboInOwl:hasDbXref UMLS_CUI:C0008513 semapv:UnspecifiedMatching -DOID:8892 pityriasis rosea oboInOwl:hasDbXref NCI:C26855 semapv:UnspecifiedMatching -DOID:8892 pityriasis rosea oboInOwl:hasDbXref MESH:D017515 semapv:UnspecifiedMatching -DOID:8892 pityriasis rosea oboInOwl:hasDbXref UMLS_CUI:C0032026 semapv:UnspecifiedMatching DOID:8892 pityriasis rosea oboInOwl:hasDbXref ICD10CM:L42 semapv:UnspecifiedMatching DOID:8892 pityriasis rosea oboInOwl:hasDbXref ICD9CM:696.3 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref EFO:0000676 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref GARD:10262 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref ICD10CM:L40 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching +DOID:8892 pityriasis rosea oboInOwl:hasDbXref MESH:D017515 semapv:UnspecifiedMatching +DOID:8892 pityriasis rosea oboInOwl:hasDbXref NCI:C26855 semapv:UnspecifiedMatching +DOID:8892 pityriasis rosea oboInOwl:hasDbXref UMLS_CUI:C0032026 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref NCI:C3346 semapv:UnspecifiedMatching -DOID:8893 psoriasis oboInOwl:hasDbXref OMIMPS:177900 semapv:UnspecifiedMatching DOID:8893 psoriasis oboInOwl:hasDbXref UMLS_CUI:C0033860 semapv:UnspecifiedMatching +DOID:8893 psoriasis oboInOwl:hasDbXref OMIMPS:177900 semapv:UnspecifiedMatching +DOID:8893 psoriasis oboInOwl:hasDbXref ICD10CM:L40 semapv:UnspecifiedMatching +DOID:8893 psoriasis oboInOwl:hasDbXref GARD:10262 semapv:UnspecifiedMatching +DOID:8893 psoriasis oboInOwl:hasDbXref EFO:0000676 semapv:UnspecifiedMatching +DOID:8893 psoriasis oboInOwl:hasDbXref MESH:D011565 semapv:UnspecifiedMatching DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref MESH:D017237 semapv:UnspecifiedMatching DOID:890 mitochondrial encephalomyopathy oboInOwl:hasDbXref UMLS_CUI:C0162666 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy skos:exactMatch NCI:C7636 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIMPS:254800 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref UMLS_CUI:C0751778 semapv:UnspecifiedMatching -DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref GARD:7140 semapv:UnspecifiedMatching +DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref MESH:D020191 semapv:UnspecifiedMatching DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref NCI:C7636 semapv:UnspecifiedMatching -DOID:8912 tinea nigra oboInOwl:hasDbXref ICD10CM:B36.1 semapv:UnspecifiedMatching -DOID:8912 tinea nigra oboInOwl:hasDbXref ICD9CM:111.1 semapv:UnspecifiedMatching +DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIM:310370 semapv:UnspecifiedMatching +DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref OMIMPS:254800 semapv:UnspecifiedMatching +DOID:891 progressive myoclonus epilepsy oboInOwl:hasDbXref UMLS_CUI:C0751778 semapv:UnspecifiedMatching DOID:8912 tinea nigra oboInOwl:hasDbXref MESH:C000656904 semapv:UnspecifiedMatching DOID:8912 tinea nigra oboInOwl:hasDbXref UMLS_CUI:C0152067 semapv:UnspecifiedMatching -DOID:8913 dermatophytosis oboInOwl:hasDbXref UMLS_CUI:C0011636 semapv:UnspecifiedMatching +DOID:8912 tinea nigra oboInOwl:hasDbXref ICD10CM:B36.1 semapv:UnspecifiedMatching +DOID:8912 tinea nigra oboInOwl:hasDbXref ICD9CM:111.1 semapv:UnspecifiedMatching DOID:8913 dermatophytosis oboInOwl:hasDbXref NCI:C26745 semapv:UnspecifiedMatching -DOID:8913 dermatophytosis oboInOwl:hasDbXref ICD9CM:110 semapv:UnspecifiedMatching +DOID:8913 dermatophytosis oboInOwl:hasDbXref UMLS_CUI:C0011636 semapv:UnspecifiedMatching DOID:8913 dermatophytosis oboInOwl:hasDbXref ICD10CM:B35 semapv:UnspecifiedMatching +DOID:8913 dermatophytosis oboInOwl:hasDbXref ICD9CM:110 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref ICD10CM:N89.4 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref ICD9CM:623.1 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref NCI:C3663 semapv:UnspecifiedMatching DOID:8920 leukoplakia of vagina oboInOwl:hasDbXref UMLS_CUI:C0156385 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:612263 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref UMLS_CUI:C0151779 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:608035 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref ICD10CM:C43.9 semapv:UnspecifiedMatching +DOID:8923 skin melanoma oboInOwl:hasDbXref ICD9CM:172.9 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref MESH:C562393 semapv:UnspecifiedMatching DOID:8923 skin melanoma oboInOwl:hasDbXref NCI:C3510 semapv:UnspecifiedMatching -DOID:8923 skin melanoma oboInOwl:hasDbXref ICD9CM:172.9 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:D69.3 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD9CM:287.31 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching +DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:608035 semapv:UnspecifiedMatching +DOID:8923 skin melanoma oboInOwl:hasDbXref OMIM:612263 semapv:UnspecifiedMatching +DOID:8923 skin melanoma oboInOwl:hasDbXref UMLS_CUI:C0151779 semapv:UnspecifiedMatching +DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref UMLS_CUI:C0398650 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref NCI:C3446 semapv:UnspecifiedMatching DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref OMIM:188030 semapv:UnspecifiedMatching -DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref UMLS_CUI:C0398650 semapv:UnspecifiedMatching +DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD9CM:287.31 semapv:UnspecifiedMatching +DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref ICD10CM:D69.3 semapv:UnspecifiedMatching +DOID:8924 autoimmune thrombocytopenic purpura oboInOwl:hasDbXref MESH:D016553 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref ICD9CM:287.39 semapv:UnspecifiedMatching DOID:8925 primary thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0477317 semapv:UnspecifiedMatching -DOID:8927 learning disability oboInOwl:hasDbXref UMLS_CUI:C0023186 semapv:UnspecifiedMatching DOID:8927 learning disability oboInOwl:hasDbXref UMLS_CUI:C0751265 semapv:UnspecifiedMatching DOID:8927 learning disability oboInOwl:hasDbXref NCI:C89334 semapv:UnspecifiedMatching -DOID:8927 learning disability oboInOwl:hasDbXref MESH:D007859 semapv:UnspecifiedMatching +DOID:8927 learning disability oboInOwl:hasDbXref UMLS_CUI:C0023186 semapv:UnspecifiedMatching DOID:8927 learning disability oboInOwl:hasDbXref ICD10CM:F81.9 semapv:UnspecifiedMatching +DOID:8927 learning disability oboInOwl:hasDbXref MESH:D007859 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref ICD10CM:K29.4 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref ICD9CM:535.1 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref MESH:D005757 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref NCI:C7405 semapv:UnspecifiedMatching DOID:8929 atrophic gastritis oboInOwl:hasDbXref UMLS_CUI:C0017154 semapv:UnspecifiedMatching +DOID:893 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching +DOID:893 Wilson disease oboInOwl:hasDbXref UMLS_CUI:C0019202 semapv:UnspecifiedMatching +DOID:893 Wilson disease oboInOwl:hasDbXref NCI:C84756 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref GARD:7893 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref ICD10CM:E83.01 semapv:UnspecifiedMatching DOID:893 Wilson disease oboInOwl:hasDbXref MESH:D006527 semapv:UnspecifiedMatching -DOID:893 Wilson disease oboInOwl:hasDbXref NCI:C84756 semapv:UnspecifiedMatching -DOID:893 Wilson disease oboInOwl:hasDbXref OMIM:277900 semapv:UnspecifiedMatching -DOID:893 Wilson disease oboInOwl:hasDbXref UMLS_CUI:C0019202 semapv:UnspecifiedMatching -DOID:8930 retromolar area cancer oboInOwl:hasDbXref UMLS_CUI:C0153379 semapv:UnspecifiedMatching -DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD9CM:145.6 semapv:UnspecifiedMatching DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD10CM:C06.2 semapv:UnspecifiedMatching +DOID:8930 retromolar area cancer oboInOwl:hasDbXref ICD9CM:145.6 semapv:UnspecifiedMatching +DOID:8930 retromolar area cancer oboInOwl:hasDbXref UMLS_CUI:C0153379 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref GARD:6389 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref ICD10CM:D69.41 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref ICD9CM:287.32 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref MESH:C536380 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref NCI:C61284 semapv:UnspecifiedMatching DOID:8931 Evans' syndrome oboInOwl:hasDbXref UMLS_CUI:C0272126 semapv:UnspecifiedMatching -DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref ICD10CM:M72.2 semapv:UnspecifiedMatching -DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref ICD9CM:728.71 semapv:UnspecifiedMatching +DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0158360 semapv:UnspecifiedMatching DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref MESH:D000071380 semapv:UnspecifiedMatching DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref NCI:C4680 semapv:UnspecifiedMatching -DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref UMLS_CUI:C0158360 semapv:UnspecifiedMatching -DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref UMLS_CUI:C0153406 semapv:UnspecifiedMatching -DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref ICD9CM:149.1 semapv:UnspecifiedMatching +DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref ICD10CM:M72.2 semapv:UnspecifiedMatching +DOID:8936 plantar fascial fibromatosis oboInOwl:hasDbXref ICD9CM:728.71 semapv:UnspecifiedMatching DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref ICD10CM:C14.2 semapv:UnspecifiedMatching +DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref ICD9CM:149.1 semapv:UnspecifiedMatching +DOID:8937 Waldeyer's ring cancer oboInOwl:hasDbXref UMLS_CUI:C0153406 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref ICD10CM:L21.0 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref ICD9CM:690.11 semapv:UnspecifiedMatching DOID:8941 seborrheic infantile dermatitis oboInOwl:hasDbXref MESH:D063807 semapv:UnspecifiedMatching @@ -30729,250 +30755,250 @@ DOID:8943 lattice corneal dystrophy oboInOwl:hasDbXref MESH:C537935 semapv:Unspe DOID:8943 lattice corneal dystrophy oboInOwl:hasDbXref OMIM:122200 semapv:UnspecifiedMatching DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.06 semapv:UnspecifiedMatching DOID:8946 severe nonproliferative diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0730278 semapv:UnspecifiedMatching +DOID:8947 diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0011884 semapv:UnspecifiedMatching +DOID:8947 diabetic retinopathy oboInOwl:hasDbXref NCI:C34538 semapv:UnspecifiedMatching DOID:8947 diabetic retinopathy oboInOwl:hasDbXref ICD9CM:362.0 semapv:UnspecifiedMatching DOID:8947 diabetic retinopathy oboInOwl:hasDbXref MESH:D003930 semapv:UnspecifiedMatching -DOID:8947 diabetic retinopathy oboInOwl:hasDbXref NCI:C34538 semapv:UnspecifiedMatching -DOID:8947 diabetic retinopathy oboInOwl:hasDbXref UMLS_CUI:C0011884 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002896 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref OMIMPS:300751 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref MESH:D000756 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref NCI:C36078 semapv:UnspecifiedMatching -DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD10CM:D64.3 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref GARD:667 semapv:UnspecifiedMatching +DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD10CM:D64.3 semapv:UnspecifiedMatching DOID:8955 sideroblastic anemia oboInOwl:hasDbXref ICD9CM:285.0 semapv:UnspecifiedMatching +DOID:8955 sideroblastic anemia oboInOwl:hasDbXref MESH:D000756 semapv:UnspecifiedMatching +DOID:8955 sideroblastic anemia oboInOwl:hasDbXref NCI:C36078 semapv:UnspecifiedMatching +DOID:8955 sideroblastic anemia oboInOwl:hasDbXref OMIMPS:300751 semapv:UnspecifiedMatching +DOID:8955 sideroblastic anemia oboInOwl:hasDbXref UMLS_CUI:C0002896 semapv:UnspecifiedMatching +DOID:8956 cowpox oboInOwl:hasDbXref UMLS_CUI:C0010232 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref ICD10CM:B08.010 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref ICD9CM:051.01 semapv:UnspecifiedMatching DOID:8956 cowpox oboInOwl:hasDbXref MESH:D015605 semapv:UnspecifiedMatching -DOID:8956 cowpox oboInOwl:hasDbXref UMLS_CUI:C0010232 semapv:UnspecifiedMatching -DOID:896 metal metabolism disorder oboInOwl:hasDbXref MESH:D008664 semapv:UnspecifiedMatching DOID:896 metal metabolism disorder oboInOwl:hasDbXref UMLS_CUI:C0025534 semapv:UnspecifiedMatching +DOID:896 metal metabolism disorder oboInOwl:hasDbXref MESH:D008664 semapv:UnspecifiedMatching DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref ICD10CM:C09.0 semapv:UnspecifiedMatching DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref ICD9CM:146.1 semapv:UnspecifiedMatching DOID:8969 tonsillar fossa cancer oboInOwl:hasDbXref UMLS_CUI:C0153384 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS_CUI:C0038522 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref OMIM:260470 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref MESH:D013344 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref NCI:C85171 semapv:UnspecifiedMatching -DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD10CM:A81.1 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref GARD:7708 semapv:UnspecifiedMatching +DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD10CM:A81.1 semapv:UnspecifiedMatching DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref ICD9CM:046.2 semapv:UnspecifiedMatching +DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref MESH:D013344 semapv:UnspecifiedMatching +DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref NCI:C85171 semapv:UnspecifiedMatching +DOID:8970 subacute sclerosing panencephalitis oboInOwl:hasDbXref UMLS_CUI:C0038522 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref UMLS_CUI:C0022680 semapv:UnspecifiedMatching -DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref NCI:C75464 semapv:UnspecifiedMatching -DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MESH:D007690 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ORDO:730 semapv:UnspecifiedMatching +DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref MESH:D007690 semapv:UnspecifiedMatching +DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref NCI:C75464 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD10CM:Q61.3 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref GARD:7419 semapv:UnspecifiedMatching DOID:898 autosomal dominant polycystic kidney disease oboInOwl:hasDbXref ICD9CM:753.12 semapv:UnspecifiedMatching +DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref UMLS_CUI:C0027404 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref ORDO:2073 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614250 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:612851 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:612417 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:609039 semapv:UnspecifiedMatching +DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:605841 semapv:UnspecifiedMatching +DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:612417 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref NCI:C84489 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:161400 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref MESH:D009290 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref ICD9CM:347.0 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref ICD10CM:G47.41 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref GARD:7162 semapv:UnspecifiedMatching DOID:8986 narcolepsy oboInOwl:hasDbXref EFO:0000614 semapv:UnspecifiedMatching -DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:605841 semapv:UnspecifiedMatching +DOID:8986 narcolepsy oboInOwl:hasDbXref OMIM:161400 semapv:UnspecifiedMatching +DOID:899 choledochal cyst oboInOwl:hasDbXref UMLS_CUI:C0008340 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref GARD:9229 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref ICD10CM:Q44.4 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref MESH:D015529 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref NCI:C2943 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref OMIM:603003 semapv:UnspecifiedMatching DOID:899 choledochal cyst oboInOwl:hasDbXref ORDO:480501 semapv:UnspecifiedMatching -DOID:899 choledochal cyst oboInOwl:hasDbXref UMLS_CUI:C0008340 semapv:UnspecifiedMatching -DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0851140 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref MESH:D002578 semapv:UnspecifiedMatching +DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0851140 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref ICD10CM:D06 semapv:UnspecifiedMatching DOID:8991 cervix uteri carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.1 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref GARD:7422 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD10CM:D45 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD9CM:207.1 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD9CM:238.4 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref ICDO:9950/3 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref NCI:C3336 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref OMIM:263300 semapv:UnspecifiedMatching -DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS_CUI:C0032463 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref NCI:C3336 semapv:UnspecifiedMatching DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS_CUI:C0152272 semapv:UnspecifiedMatching -DOID:90 degenerative disc disease oboInOwl:hasDbXref UMLS_CUI:C0410606 semapv:UnspecifiedMatching -DOID:90 degenerative disc disease oboInOwl:hasDbXref NCI:C27156 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref MESH:D011087 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref UMLS_CUI:C0032463 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD9CM:238.4 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD9CM:207.1 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref ICD10CM:D45 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref ICDO:9950/3 semapv:UnspecifiedMatching +DOID:8997 polycythemia vera oboInOwl:hasDbXref GARD:7422 semapv:UnspecifiedMatching DOID:90 degenerative disc disease oboInOwl:hasDbXref EFO:0004994 semapv:UnspecifiedMatching +DOID:90 degenerative disc disease oboInOwl:hasDbXref NCI:C27156 semapv:UnspecifiedMatching +DOID:90 degenerative disc disease oboInOwl:hasDbXref UMLS_CUI:C0410606 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref ICD10CM:K76.81 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref ICD9CM:573.5 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref MESH:D020065 semapv:UnspecifiedMatching DOID:900 hepatopulmonary syndrome oboInOwl:hasDbXref UMLS_CUI:C0600452 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref GARD:7711 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref ICD9CM:798.0 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref MESH:D013398 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref NCI:C85173 semapv:UnspecifiedMatching -DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref OMIM:272120 semapv:UnspecifiedMatching DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref UMLS_CUI:C0038644 semapv:UnspecifiedMatching -DOID:9008 psoriatic arthritis oboInOwl:hasDbXref UMLS_CUI:C0003872 semapv:UnspecifiedMatching -DOID:9008 psoriatic arthritis oboInOwl:hasDbXref MESH:D015535 semapv:UnspecifiedMatching -DOID:9008 psoriatic arthritis oboInOwl:hasDbXref NCI:C61277 semapv:UnspecifiedMatching -DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD10CM:L40.5 semapv:UnspecifiedMatching +DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref OMIM:272120 semapv:UnspecifiedMatching +DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref NCI:C85173 semapv:UnspecifiedMatching +DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref MESH:D013398 semapv:UnspecifiedMatching +DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref ICD9CM:798.0 semapv:UnspecifiedMatching +DOID:9007 sudden infant death syndrome oboInOwl:hasDbXref GARD:7711 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref EFO:0003778 semapv:UnspecifiedMatching +DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD10CM:L40.5 semapv:UnspecifiedMatching DOID:9008 psoriatic arthritis oboInOwl:hasDbXref ICD9CM:696.0 semapv:UnspecifiedMatching +DOID:9008 psoriatic arthritis oboInOwl:hasDbXref MESH:D015535 semapv:UnspecifiedMatching +DOID:9008 psoriatic arthritis oboInOwl:hasDbXref NCI:C61277 semapv:UnspecifiedMatching +DOID:9008 psoriatic arthritis oboInOwl:hasDbXref UMLS_CUI:C0003872 semapv:UnspecifiedMatching DOID:901 liver lymphoma oboInOwl:hasDbXref NCI:C4949 semapv:UnspecifiedMatching DOID:901 liver lymphoma oboInOwl:hasDbXref UMLS_CUI:C1112746 semapv:UnspecifiedMatching DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref ICD10CM:D02.0 semapv:UnspecifiedMatching DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref ICD9CM:231.0 semapv:UnspecifiedMatching DOID:9011 larynx carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154069 semapv:UnspecifiedMatching DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref UMLS_CUI:C0267095 semapv:UnspecifiedMatching -DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref ICD9CM:530.83 semapv:UnspecifiedMatching DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref NCI:C3953 semapv:UnspecifiedMatching +DOID:9021 esophageal leukoplakia oboInOwl:hasDbXref ICD9CM:530.83 semapv:UnspecifiedMatching DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.4 semapv:UnspecifiedMatching DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.7 semapv:UnspecifiedMatching DOID:9024 intestine carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154065 semapv:UnspecifiedMatching DOID:903 gastrointestinal lymphoma oboInOwl:hasDbXref NCI:C38162 semapv:UnspecifiedMatching DOID:903 gastrointestinal lymphoma oboInOwl:hasDbXref UMLS_CUI:C0740372 semapv:UnspecifiedMatching -DOID:9036 parotid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0747273 semapv:UnspecifiedMatching -DOID:9036 parotid gland cancer oboInOwl:hasDbXref NCI:C3525 semapv:UnspecifiedMatching -DOID:9036 parotid gland cancer oboInOwl:hasDbXref ICD9CM:142.0 semapv:UnspecifiedMatching DOID:9036 parotid gland cancer oboInOwl:hasDbXref ICD10CM:C07 semapv:UnspecifiedMatching +DOID:9036 parotid gland cancer oboInOwl:hasDbXref ICD9CM:142.0 semapv:UnspecifiedMatching DOID:9036 parotid gland cancer oboInOwl:hasDbXref MESH:D010307 semapv:UnspecifiedMatching -DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref ICD10CM:N84.0 semapv:UnspecifiedMatching -DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref ICD9CM:621.0 semapv:UnspecifiedMatching +DOID:9036 parotid gland cancer oboInOwl:hasDbXref NCI:C3525 semapv:UnspecifiedMatching +DOID:9036 parotid gland cancer oboInOwl:hasDbXref UMLS_CUI:C0747273 semapv:UnspecifiedMatching DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref NCI:C3662 semapv:UnspecifiedMatching DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref UMLS_CUI:C0156369 semapv:UnspecifiedMatching +DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref ICD10CM:N84.0 semapv:UnspecifiedMatching +DOID:9042 polyp of corpus uteri oboInOwl:hasDbXref ICD9CM:621.0 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref ICD10CM:N88.0 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref ICD9CM:622.2 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref NCI:C3976 semapv:UnspecifiedMatching DOID:9043 uterine cervix leukoplakia oboInOwl:hasDbXref UMLS_CUI:C0269194 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref UMLS_CUI:C0043459 semapv:UnspecifiedMatching -DOID:905 Zellweger syndrome oboInOwl:hasDbXref NCI:C85239 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref ORDO:912 semapv:UnspecifiedMatching -DOID:905 Zellweger syndrome oboInOwl:hasDbXref ICD10CM:E71.510 semapv:UnspecifiedMatching -DOID:905 Zellweger syndrome oboInOwl:hasDbXref GARD:7917 semapv:UnspecifiedMatching +DOID:905 Zellweger syndrome oboInOwl:hasDbXref NCI:C85239 semapv:UnspecifiedMatching DOID:905 Zellweger syndrome oboInOwl:hasDbXref MESH:D015211 semapv:UnspecifiedMatching +DOID:905 Zellweger syndrome oboInOwl:hasDbXref GARD:7917 semapv:UnspecifiedMatching +DOID:905 Zellweger syndrome oboInOwl:hasDbXref ICD10CM:E71.510 semapv:UnspecifiedMatching DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.0 semapv:UnspecifiedMatching DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.7 semapv:UnspecifiedMatching DOID:9053 bladder carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154091 semapv:UnspecifiedMatching -DOID:906 peroxisomal disease oboInOwl:hasDbXref ICD10CM:E71.5 semapv:UnspecifiedMatching +DOID:906 peroxisomal disease oboInOwl:hasDbXref UMLS_CUI:C0282528 semapv:UnspecifiedMatching +DOID:906 peroxisomal disease oboInOwl:hasDbXref NCI:C85005 semapv:UnspecifiedMatching DOID:906 peroxisomal disease oboInOwl:hasDbXref ICD9CM:277.86 semapv:UnspecifiedMatching DOID:906 peroxisomal disease oboInOwl:hasDbXref MESH:D018901 semapv:UnspecifiedMatching -DOID:906 peroxisomal disease oboInOwl:hasDbXref NCI:C85005 semapv:UnspecifiedMatching -DOID:906 peroxisomal disease oboInOwl:hasDbXref UMLS_CUI:C0282528 semapv:UnspecifiedMatching -DOID:9060 pityriasis versicolor oboInOwl:hasDbXref NCI:C112833 semapv:UnspecifiedMatching +DOID:906 peroxisomal disease oboInOwl:hasDbXref ICD10CM:E71.5 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref ICD10CM:B36.0 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref ICD9CM:111.0 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref MESH:D014010 semapv:UnspecifiedMatching +DOID:9060 pityriasis versicolor oboInOwl:hasDbXref NCI:C112833 semapv:UnspecifiedMatching DOID:9060 pityriasis versicolor oboInOwl:hasDbXref UMLS_CUI:C0040262 semapv:UnspecifiedMatching -DOID:9063 Ritter's disease oboInOwl:hasDbXref UMLS_CUI:C0038165 semapv:UnspecifiedMatching -DOID:9063 Ritter's disease oboInOwl:hasDbXref NCI:C85077 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref ICD10CM:L00 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref ICD9CM:695.81 semapv:UnspecifiedMatching DOID:9063 Ritter's disease oboInOwl:hasDbXref MESH:D013206 semapv:UnspecifiedMatching -DOID:9065 leishmaniasis oboInOwl:hasDbXref GARD:6881 semapv:UnspecifiedMatching -DOID:9065 leishmaniasis oboInOwl:hasDbXref ICD10CM:B55 semapv:UnspecifiedMatching -DOID:9065 leishmaniasis oboInOwl:hasDbXref ICD9CM:085 semapv:UnspecifiedMatching -DOID:9065 leishmaniasis oboInOwl:hasDbXref MESH:D007896 semapv:UnspecifiedMatching -DOID:9065 leishmaniasis oboInOwl:hasDbXref NCI:C34767 semapv:UnspecifiedMatching +DOID:9063 Ritter's disease oboInOwl:hasDbXref NCI:C85077 semapv:UnspecifiedMatching +DOID:9063 Ritter's disease oboInOwl:hasDbXref UMLS_CUI:C0038165 semapv:UnspecifiedMatching DOID:9065 leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023281 semapv:UnspecifiedMatching -DOID:907 liver fibroma oboInOwl:hasDbXref NCI:C5752 semapv:UnspecifiedMatching +DOID:9065 leishmaniasis oboInOwl:hasDbXref NCI:C34767 semapv:UnspecifiedMatching +DOID:9065 leishmaniasis oboInOwl:hasDbXref MESH:D007896 semapv:UnspecifiedMatching +DOID:9065 leishmaniasis oboInOwl:hasDbXref ICD9CM:085 semapv:UnspecifiedMatching +DOID:9065 leishmaniasis oboInOwl:hasDbXref ICD10CM:B55 semapv:UnspecifiedMatching +DOID:9065 leishmaniasis oboInOwl:hasDbXref GARD:6881 semapv:UnspecifiedMatching DOID:907 liver fibroma oboInOwl:hasDbXref UMLS_CUI:C1333965 semapv:UnspecifiedMatching -DOID:9072 lethal midline granuloma oboInOwl:hasDbXref UMLS_CUI:C0018197 semapv:UnspecifiedMatching -DOID:9072 lethal midline granuloma oboInOwl:hasDbXref NCI:C8196 semapv:UnspecifiedMatching -DOID:9072 lethal midline granuloma oboInOwl:hasDbXref MESH:D006103 semapv:UnspecifiedMatching -DOID:9072 lethal midline granuloma oboInOwl:hasDbXref ICD9CM:446.3 semapv:UnspecifiedMatching -DOID:9072 lethal midline granuloma oboInOwl:hasDbXref ICD10CM:M31.2 semapv:UnspecifiedMatching +DOID:907 liver fibroma oboInOwl:hasDbXref NCI:C5752 semapv:UnspecifiedMatching DOID:9072 lethal midline granuloma oboInOwl:hasDbXref GARD:9622 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ORDO:536 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:613145 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612378 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612254 semapv:UnspecifiedMatching +DOID:9072 lethal midline granuloma oboInOwl:hasDbXref ICD10CM:M31.2 semapv:UnspecifiedMatching +DOID:9072 lethal midline granuloma oboInOwl:hasDbXref ICD9CM:446.3 semapv:UnspecifiedMatching +DOID:9072 lethal midline granuloma oboInOwl:hasDbXref MESH:D006103 semapv:UnspecifiedMatching +DOID:9072 lethal midline granuloma oboInOwl:hasDbXref NCI:C8196 semapv:UnspecifiedMatching +DOID:9072 lethal midline granuloma oboInOwl:hasDbXref UMLS_CUI:C0018197 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:610065 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:610066 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612254 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:612378 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ICD9CM:710.0 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:614420 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ORDO:536 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref UMLS_CUI:C0024141 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:609939 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:613145 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:609903 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref GARD:10253 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:605480 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:608437 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:610065 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:300809 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:152700 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref NCI:C3201 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref KEGG:05322 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ICD9CM:710.0 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref ICD10CM:M32.9 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref GARD:10253 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref KEGG:05322 semapv:UnspecifiedMatching DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref EFO:0002690 semapv:UnspecifiedMatching -DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:605480 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref NCI:C3201 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:152700 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref OMIM:300809 semapv:UnspecifiedMatching +DOID:9074 systemic lupus erythematosus oboInOwl:hasDbXref MESH:D008180 semapv:UnspecifiedMatching DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref ICD10CM:H01.12 semapv:UnspecifiedMatching DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref ICD9CM:373.34 semapv:UnspecifiedMatching DOID:9076 discoid lupus erythematosus of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155180 semapv:UnspecifiedMatching DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.6 semapv:UnspecifiedMatching DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref NCI:C157575 semapv:UnspecifiedMatching DOID:9087 anal carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154064 semapv:UnspecifiedMatching -DOID:9088 parapsoriasis oboInOwl:hasDbXref UMLS_CUI:C0030491 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref NCI:C3312 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref MESH:D010267 semapv:UnspecifiedMatching -DOID:9088 parapsoriasis oboInOwl:hasDbXref GARD:7328 semapv:UnspecifiedMatching +DOID:9088 parapsoriasis oboInOwl:hasDbXref UMLS_CUI:C0030491 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref ICD10CM:L41 semapv:UnspecifiedMatching +DOID:9088 parapsoriasis oboInOwl:hasDbXref GARD:7328 semapv:UnspecifiedMatching DOID:9088 parapsoriasis oboInOwl:hasDbXref ICD9CM:696.2 semapv:UnspecifiedMatching -DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref ICD10CM:G47.52 semapv:UnspecifiedMatching -DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref ICD9CM:327.42 semapv:UnspecifiedMatching DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref MESH:D020187 semapv:UnspecifiedMatching DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref UMLS_CUI:C0751772 semapv:UnspecifiedMatching +DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref ICD10CM:G47.52 semapv:UnspecifiedMatching +DOID:9091 REM sleep behavior disorder oboInOwl:hasDbXref ICD9CM:327.42 semapv:UnspecifiedMatching DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref ICD10CM:D00.1 semapv:UnspecifiedMatching DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.1 semapv:UnspecifiedMatching DOID:9095 esophagus carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154059 semapv:UnspecifiedMatching -DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref UMLS_CUI:C0014747 semapv:UnspecifiedMatching DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref ICD9CM:690 semapv:UnspecifiedMatching DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref NCI:C34591 semapv:UnspecifiedMatching +DOID:9097 erythematosquamous dermatosis oboInOwl:hasDbXref UMLS_CUI:C0014747 semapv:UnspecifiedMatching +DOID:9098 sebaceous gland disease oboInOwl:hasDbXref ICD10CM:L70.8 semapv:UnspecifiedMatching DOID:9098 sebaceous gland disease oboInOwl:hasDbXref ICD9CM:706.1 semapv:UnspecifiedMatching DOID:9098 sebaceous gland disease oboInOwl:hasDbXref UMLS_CUI:C0029485 semapv:UnspecifiedMatching -DOID:9098 sebaceous gland disease oboInOwl:hasDbXref ICD10CM:L70.8 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref ICD10CM:C71.4 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref ICD9CM:191.4 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref NCI:C5574 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C0153638 semapv:UnspecifiedMatching DOID:910 occipital lobe neoplasm oboInOwl:hasDbXref UMLS_CUI:C1263889 semapv:UnspecifiedMatching -DOID:9108 uterus carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.2 semapv:UnspecifiedMatching DOID:9108 uterus carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154086 semapv:UnspecifiedMatching +DOID:9108 uterus carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.2 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.1 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref MESH:D016773 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref NCI:C34768 semapv:UnspecifiedMatching DOID:9111 cutaneous leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023283 semapv:UnspecifiedMatching -DOID:9113 granuloma inguinale oboInOwl:hasDbXref UMLS_CUI:C0018190 semapv:UnspecifiedMatching -DOID:9113 granuloma inguinale oboInOwl:hasDbXref NCI:C3065 semapv:UnspecifiedMatching -DOID:9113 granuloma inguinale oboInOwl:hasDbXref MESH:D006100 semapv:UnspecifiedMatching -DOID:9113 granuloma inguinale oboInOwl:hasDbXref ICD9CM:099.2 semapv:UnspecifiedMatching -DOID:9113 granuloma inguinale oboInOwl:hasDbXref ICD10CM:A58 semapv:UnspecifiedMatching DOID:9113 granuloma inguinale oboInOwl:hasDbXref GARD:9532 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref GARD:12757 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICD9CM:205.0 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICDO:9861/3 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref KEGG:05221 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref NCI:C3171 semapv:UnspecifiedMatching -DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +DOID:9113 granuloma inguinale oboInOwl:hasDbXref ICD10CM:A58 semapv:UnspecifiedMatching +DOID:9113 granuloma inguinale oboInOwl:hasDbXref ICD9CM:099.2 semapv:UnspecifiedMatching +DOID:9113 granuloma inguinale oboInOwl:hasDbXref MESH:D006100 semapv:UnspecifiedMatching +DOID:9113 granuloma inguinale oboInOwl:hasDbXref NCI:C3065 semapv:UnspecifiedMatching +DOID:9113 granuloma inguinale oboInOwl:hasDbXref UMLS_CUI:C0018190 semapv:UnspecifiedMatching DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref UMLS_CUI:C0023467 semapv:UnspecifiedMatching -DOID:9120 amyloidosis skos:exactMatch MESH:D000686 semapv:UnspecifiedMatching -DOID:9120 amyloidosis oboInOwl:hasDbXref NCI:C2868 semapv:UnspecifiedMatching -DOID:9120 amyloidosis oboInOwl:hasDbXref UMLS_CUI:C0002726 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref NCI:C3171 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref MESH:D015470 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref KEGG:05221 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICDO:9861/3 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICD9CM:205.0 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref ICD10CM:C92.0 semapv:UnspecifiedMatching +DOID:9119 acute myeloid leukemia oboInOwl:hasDbXref GARD:12757 semapv:UnspecifiedMatching +DOID:9120 amyloidosis oboInOwl:hasDbXref ICD10CM:E85 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref ICD9CM:277.3 semapv:UnspecifiedMatching DOID:9120 amyloidosis oboInOwl:hasDbXref MESH:D000686 semapv:UnspecifiedMatching -DOID:9120 amyloidosis oboInOwl:hasDbXref ICD10CM:E85 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD10CM:B00.0 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD9CM:054.0 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD9CM:054.41 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref MESH:D007617 semapv:UnspecifiedMatching +DOID:9120 amyloidosis oboInOwl:hasDbXref NCI:C2868 semapv:UnspecifiedMatching +DOID:9120 amyloidosis oboInOwl:hasDbXref UMLS_CUI:C0002726 semapv:UnspecifiedMatching +DOID:9120 amyloidosis skos:exactMatch MESH:D000686 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0936250 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0854331 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref NCI:C35620 semapv:UnspecifiedMatching DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0153037 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0854331 semapv:UnspecifiedMatching -DOID:9123 eczema herpeticum oboInOwl:hasDbXref UMLS_CUI:C0936250 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD9CM:054.41 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD9CM:054.0 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref ICD10CM:B00.0 semapv:UnspecifiedMatching +DOID:9123 eczema herpeticum oboInOwl:hasDbXref MESH:D007617 semapv:UnspecifiedMatching DOID:9125 lower gum cancer oboInOwl:hasDbXref ICD10CM:C03.1 semapv:UnspecifiedMatching DOID:9125 lower gum cancer oboInOwl:hasDbXref ICD9CM:143.1 semapv:UnspecifiedMatching DOID:9125 lower gum cancer oboInOwl:hasDbXref UMLS_CUI:C0432581 semapv:UnspecifiedMatching -DOID:913 atrophic muscular disease oboInOwl:hasDbXref NCI:C84574 semapv:UnspecifiedMatching DOID:913 atrophic muscular disease oboInOwl:hasDbXref UMLS_CUI:C0752352 semapv:UnspecifiedMatching +DOID:913 atrophic muscular disease oboInOwl:hasDbXref NCI:C84574 semapv:UnspecifiedMatching DOID:913 atrophic muscular disease oboInOwl:hasDbXref MESH:D020966 semapv:UnspecifiedMatching DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.5 semapv:UnspecifiedMatching DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.8 semapv:UnspecifiedMatching @@ -30980,155 +31006,155 @@ DOID:9132 liver carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0496854 semapv:Un DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref ICD10CM:D00.2 semapv:UnspecifiedMatching DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.2 semapv:UnspecifiedMatching DOID:9138 stomach carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154060 semapv:UnspecifiedMatching -DOID:914 peliosis hepatis oboInOwl:hasDbXref MESH:D010382 semapv:UnspecifiedMatching -DOID:914 peliosis hepatis oboInOwl:hasDbXref ICD10CM:K76.4 semapv:UnspecifiedMatching DOID:914 peliosis hepatis oboInOwl:hasDbXref UMLS_CUI:C0030781 semapv:UnspecifiedMatching +DOID:914 peliosis hepatis oboInOwl:hasDbXref ICD10CM:K76.4 semapv:UnspecifiedMatching +DOID:914 peliosis hepatis oboInOwl:hasDbXref MESH:D010382 semapv:UnspecifiedMatching DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref ICD10CM:H01.14 semapv:UnspecifiedMatching DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref ICD9CM:373.33 semapv:UnspecifiedMatching DOID:9140 xeroderma of eyelid oboInOwl:hasDbXref UMLS_CUI:C0155179 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611382 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611381 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023290 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ORDO:507 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref MESH:D007898 semapv:UnspecifiedMatching -DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD9CM:085.0 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.0 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ICD9CM:085.0 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref MESH:D007898 semapv:UnspecifiedMatching DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref NCI:C34771 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:608207 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611381 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref OMIM:611382 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref ORDO:507 semapv:UnspecifiedMatching +DOID:9146 visceral leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C0023290 semapv:UnspecifiedMatching +DOID:9149 hard palate cancer oboInOwl:hasDbXref UMLS_CUI:C0153375 semapv:UnspecifiedMatching +DOID:9149 hard palate cancer oboInOwl:hasDbXref NCI:C3528 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref ICD10CM:C05.0 semapv:UnspecifiedMatching DOID:9149 hard palate cancer oboInOwl:hasDbXref ICD9CM:145.2 semapv:UnspecifiedMatching -DOID:9149 hard palate cancer oboInOwl:hasDbXref NCI:C3528 semapv:UnspecifiedMatching -DOID:9149 hard palate cancer oboInOwl:hasDbXref UMLS_CUI:C0153375 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref ICD9CM:050.1 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref MESH:D012899 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref NCI:C34365 semapv:UnspecifiedMatching DOID:9153 variola minor oboInOwl:hasDbXref UMLS_CUI:C0001906 semapv:UnspecifiedMatching -DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref ICD9CM:085.5 semapv:UnspecifiedMatching -DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C1328252 semapv:UnspecifiedMatching DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref ICD10CM:B55.2 semapv:UnspecifiedMatching +DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref ICD9CM:085.5 semapv:UnspecifiedMatching DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref MESH:D007897 semapv:UnspecifiedMatching +DOID:9155 mucocutaneous leishmaniasis oboInOwl:hasDbXref UMLS_CUI:C1328252 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref ICD10CM:A48.0 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref ICD9CM:040.0 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref MESH:D005738 semapv:UnspecifiedMatching DOID:9159 gas gangrene oboInOwl:hasDbXref UMLS_CUI:C0017105 semapv:UnspecifiedMatching -DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333419 semapv:UnspecifiedMatching -DOID:916 liver benign neoplasm oboInOwl:hasDbXref NCI:C7103 semapv:UnspecifiedMatching -DOID:916 liver benign neoplasm oboInOwl:hasDbXref NCI:C7106 semapv:UnspecifiedMatching DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333976 semapv:UnspecifiedMatching -DOID:9164 achalasia oboInOwl:hasDbXref UMLS_CUI:C0014848 semapv:UnspecifiedMatching -DOID:9164 achalasia oboInOwl:hasDbXref NCI:C84699 semapv:UnspecifiedMatching -DOID:9164 achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching -DOID:9164 achalasia oboInOwl:hasDbXref ICD9CM:530.0 semapv:UnspecifiedMatching +DOID:916 liver benign neoplasm oboInOwl:hasDbXref NCI:C7106 semapv:UnspecifiedMatching +DOID:916 liver benign neoplasm oboInOwl:hasDbXref NCI:C7103 semapv:UnspecifiedMatching +DOID:916 liver benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C1333419 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref ICD10CM:K22.0 semapv:UnspecifiedMatching +DOID:9164 achalasia oboInOwl:hasDbXref ICD9CM:530.0 semapv:UnspecifiedMatching DOID:9164 achalasia oboInOwl:hasDbXref MESH:D004931 semapv:UnspecifiedMatching +DOID:9164 achalasia oboInOwl:hasDbXref NCI:C84699 semapv:UnspecifiedMatching +DOID:9164 achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching +DOID:9164 achalasia oboInOwl:hasDbXref UMLS_CUI:C0014848 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref ICD10CM:L98.1 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref ICD9CM:698.4 semapv:UnspecifiedMatching DOID:9165 neurotic excoriation oboInOwl:hasDbXref UMLS_CUI:C1274184 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10CM:D82.0 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD9CM:279.12 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref NCI:C3448 semapv:UnspecifiedMatching -DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 semapv:UnspecifiedMatching DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref UMLS_CUI:C0043194 semapv:UnspecifiedMatching +DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref OMIM:301000 semapv:UnspecifiedMatching +DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref MESH:D014923 semapv:UnspecifiedMatching +DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD9CM:279.12 semapv:UnspecifiedMatching +DOID:9169 Wiskott-Aldrich syndrome oboInOwl:hasDbXref ICD10CM:D82.0 semapv:UnspecifiedMatching DOID:917 liver leiomyoma oboInOwl:hasDbXref NCI:C5753 semapv:UnspecifiedMatching DOID:917 liver leiomyoma oboInOwl:hasDbXref UMLS_CUI:C1333968 semapv:UnspecifiedMatching -DOID:9173 submandibular gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153360 semapv:UnspecifiedMatching -DOID:9173 submandibular gland cancer oboInOwl:hasDbXref NCI:C3526 semapv:UnspecifiedMatching DOID:9173 submandibular gland cancer oboInOwl:hasDbXref ICD10CM:C08.0 semapv:UnspecifiedMatching DOID:9173 submandibular gland cancer oboInOwl:hasDbXref ICD9CM:142.1 semapv:UnspecifiedMatching +DOID:9173 submandibular gland cancer oboInOwl:hasDbXref NCI:C3526 semapv:UnspecifiedMatching +DOID:9173 submandibular gland cancer oboInOwl:hasDbXref UMLS_CUI:C0153360 semapv:UnspecifiedMatching DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref ICD10CM:D01.2 semapv:UnspecifiedMatching DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref ICD9CM:230.4 semapv:UnspecifiedMatching DOID:9174 rectum carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154062 semapv:UnspecifiedMatching DOID:918 liver inflammatory pseudotumor oboInOwl:hasDbXref NCI:C5858 semapv:UnspecifiedMatching DOID:918 liver inflammatory pseudotumor oboInOwl:hasDbXref UMLS_CUI:C1333967 semapv:UnspecifiedMatching +DOID:9181 amebiasis oboInOwl:hasDbXref NCI:C84551 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref UMLS_CUI:C0002438 semapv:UnspecifiedMatching -DOID:9181 amebiasis oboInOwl:hasDbXref GARD:652 semapv:UnspecifiedMatching -DOID:9181 amebiasis oboInOwl:hasDbXref ICD10CM:A06 semapv:UnspecifiedMatching -DOID:9181 amebiasis oboInOwl:hasDbXref ICD9CM:006 semapv:UnspecifiedMatching DOID:9181 amebiasis oboInOwl:hasDbXref MESH:D000562 semapv:UnspecifiedMatching -DOID:9181 amebiasis oboInOwl:hasDbXref NCI:C84551 semapv:UnspecifiedMatching DOID:9181 amebiasis skos:exactMatch MESH:D000562 semapv:UnspecifiedMatching -DOID:9182 pemphigus oboInOwl:hasDbXref NCI:C34909 semapv:UnspecifiedMatching -DOID:9182 pemphigus oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching -DOID:9182 pemphigus oboInOwl:hasDbXref UMLS_CUI:C0030807 semapv:UnspecifiedMatching -DOID:9182 pemphigus oboInOwl:hasDbXref ICD10CM:L10 semapv:UnspecifiedMatching +DOID:9181 amebiasis oboInOwl:hasDbXref ICD10CM:A06 semapv:UnspecifiedMatching +DOID:9181 amebiasis oboInOwl:hasDbXref GARD:652 semapv:UnspecifiedMatching +DOID:9181 amebiasis oboInOwl:hasDbXref ICD9CM:006 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref GARD:7352 semapv:UnspecifiedMatching +DOID:9182 pemphigus oboInOwl:hasDbXref ICD10CM:L10 semapv:UnspecifiedMatching DOID:9182 pemphigus oboInOwl:hasDbXref ICD9CM:694.4 semapv:UnspecifiedMatching +DOID:9182 pemphigus oboInOwl:hasDbXref MESH:D010392 semapv:UnspecifiedMatching +DOID:9182 pemphigus oboInOwl:hasDbXref NCI:C34909 semapv:UnspecifiedMatching +DOID:9182 pemphigus oboInOwl:hasDbXref UMLS_CUI:C0030807 semapv:UnspecifiedMatching +DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref ICD10CM:C06.1 semapv:UnspecifiedMatching DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref ICD9CM:145.1 semapv:UnspecifiedMatching DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref UMLS_CUI:C0153374 semapv:UnspecifiedMatching -DOID:9188 vestibule of mouth cancer oboInOwl:hasDbXref ICD10CM:C06.1 semapv:UnspecifiedMatching DOID:9191 diabetic macular edema oboInOwl:hasDbXref ICD9CM:362.07 semapv:UnspecifiedMatching DOID:9191 diabetic macular edema oboInOwl:hasDbXref UMLS_CUI:C0730285 semapv:UnspecifiedMatching -DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref ICD10CM:K22.4 semapv:UnspecifiedMatching -DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref ICD9CM:530.5 semapv:UnspecifiedMatching -DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref MESH:D015154 semapv:UnspecifiedMatching DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref UMLS_CUI:C0014858 semapv:UnspecifiedMatching +DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref MESH:D015154 semapv:UnspecifiedMatching +DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref ICD9CM:530.5 semapv:UnspecifiedMatching +DOID:9192 dyskinesia of esophagus oboInOwl:hasDbXref ICD10CM:K22.4 semapv:UnspecifiedMatching DOID:92 speech disorder oboInOwl:hasDbXref MESH:D013064 semapv:UnspecifiedMatching DOID:92 speech disorder oboInOwl:hasDbXref NCI:C5041 semapv:UnspecifiedMatching DOID:92 speech disorder oboInOwl:hasDbXref UMLS_CUI:C0037822 semapv:UnspecifiedMatching -DOID:9201 lichen planus oboInOwl:hasDbXref UMLS_CUI:C0023646 semapv:UnspecifiedMatching -DOID:9201 lichen planus skos:exactMatch MESH:D008010 semapv:UnspecifiedMatching -DOID:9201 lichen planus oboInOwl:hasDbXref MESH:D008010 semapv:UnspecifiedMatching -DOID:9201 lichen planus oboInOwl:hasDbXref NCI:C3189 semapv:UnspecifiedMatching -DOID:9201 lichen planus oboInOwl:hasDbXref ICD10CM:L43 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref GARD:12344 semapv:UnspecifiedMatching +DOID:9201 lichen planus oboInOwl:hasDbXref ICD10CM:L43 semapv:UnspecifiedMatching DOID:9201 lichen planus oboInOwl:hasDbXref ICD9CM:697.0 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref EFO:0000280 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref GARD:20 semapv:UnspecifiedMatching +DOID:9201 lichen planus oboInOwl:hasDbXref MESH:D008010 semapv:UnspecifiedMatching +DOID:9201 lichen planus oboInOwl:hasDbXref NCI:C3189 semapv:UnspecifiedMatching +DOID:9201 lichen planus oboInOwl:hasDbXref UMLS_CUI:C0023646 semapv:UnspecifiedMatching +DOID:9201 lichen planus skos:exactMatch MESH:D008010 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref UMLS_CUI:C0004763 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref OMIM:614266 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref NCI:C2891 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref MESH:D001471 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref ICD10CM:K22.7 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref GARD:20 semapv:UnspecifiedMatching +DOID:9206 Barrett's esophagus oboInOwl:hasDbXref EFO:0000280 semapv:UnspecifiedMatching DOID:9206 Barrett's esophagus oboInOwl:hasDbXref ICD9CM:530.85 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref MESH:D001471 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref NCI:C2891 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref OMIM:614266 semapv:UnspecifiedMatching -DOID:9206 Barrett's esophagus oboInOwl:hasDbXref UMLS_CUI:C0004763 semapv:UnspecifiedMatching -DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref MESH:D020189 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref ICD10CM:G47.61 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref ICD9CM:327.51 semapv:UnspecifiedMatching +DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref MESH:D020189 semapv:UnspecifiedMatching DOID:9207 periodic limb movement disorder oboInOwl:hasDbXref UMLS_CUI:C0751774 semapv:UnspecifiedMatching -DOID:9210 herpes zoster oticus oboInOwl:hasDbXref NCI:C84763 semapv:UnspecifiedMatching -DOID:9210 herpes zoster oticus oboInOwl:hasDbXref UMLS_CUI:C0017409 semapv:UnspecifiedMatching -DOID:9210 herpes zoster oticus oboInOwl:hasDbXref MESH:D016697 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref GARD:7525 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref ICD10CM:B02.21 semapv:UnspecifiedMatching DOID:9210 herpes zoster oticus oboInOwl:hasDbXref ICD9CM:053.11 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref GARD:7401 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD10CM:L44.0 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD9CM:696.4 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:UnspecifiedMatching -DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref NCI:C85014 semapv:UnspecifiedMatching +DOID:9210 herpes zoster oticus oboInOwl:hasDbXref MESH:D016697 semapv:UnspecifiedMatching +DOID:9210 herpes zoster oticus oboInOwl:hasDbXref NCI:C84763 semapv:UnspecifiedMatching +DOID:9210 herpes zoster oticus oboInOwl:hasDbXref UMLS_CUI:C0017409 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref OMIM:173200 semapv:UnspecifiedMatching +DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD9CM:696.4 semapv:UnspecifiedMatching DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref UMLS_CUI:C0032027 semapv:UnspecifiedMatching -DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:207720 semapv:UnspecifiedMatching -DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:107640 semapv:UnspecifiedMatching -DOID:9220 central sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0520680 semapv:UnspecifiedMatching +DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref NCI:C85014 semapv:UnspecifiedMatching +DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref ICD10CM:L44.0 semapv:UnspecifiedMatching +DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref GARD:7401 semapv:UnspecifiedMatching +DOID:9212 pityriasis rubra pilaris oboInOwl:hasDbXref MESH:D010916 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref MESH:D020182 semapv:UnspecifiedMatching DOID:9220 central sleep apnea oboInOwl:hasDbXref NCI:C116046 semapv:UnspecifiedMatching +DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:107640 semapv:UnspecifiedMatching +DOID:9220 central sleep apnea oboInOwl:hasDbXref OMIM:207720 semapv:UnspecifiedMatching +DOID:9220 central sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0520680 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref ICD9CM:705.81 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref MESH:D011146 semapv:UnspecifiedMatching DOID:9230 pompholyx oboInOwl:hasDbXref UMLS_CUI:C0032633 semapv:UnspecifiedMatching -DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.1 semapv:UnspecifiedMatching DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref ICD9CM:233.9 semapv:UnspecifiedMatching +DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref ICD10CM:D09.1 semapv:UnspecifiedMatching DOID:9234 kidney carcinoma in situ oboInOwl:hasDbXref UMLS_CUI:C0154092 semapv:UnspecifiedMatching -DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref ICD10CM:C12 semapv:UnspecifiedMatching -DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref ICD9CM:148.1 semapv:UnspecifiedMatching -DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref NCI:C3531 semapv:UnspecifiedMatching DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref UMLS_CUI:C0153400 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref NCI:C34593 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref UMLS_CUI:C0014804 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref MESH:D004916 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching -DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD10CM:I73.81 semapv:UnspecifiedMatching +DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref NCI:C3531 semapv:UnspecifiedMatching +DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref ICD9CM:148.1 semapv:UnspecifiedMatching +DOID:9235 pyriform sinus cancer oboInOwl:hasDbXref ICD10CM:C12 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref GARD:6377 semapv:UnspecifiedMatching +DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD10CM:I73.81 semapv:UnspecifiedMatching DOID:9240 erythromelalgia oboInOwl:hasDbXref ICD9CM:443.82 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome skos:exactMatch MESH:D016738 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref ORDO:52 semapv:UnspecifiedMatching +DOID:9240 erythromelalgia oboInOwl:hasDbXref MESH:D004916 semapv:UnspecifiedMatching +DOID:9240 erythromelalgia oboInOwl:hasDbXref NCI:C34593 semapv:UnspecifiedMatching +DOID:9240 erythromelalgia oboInOwl:hasDbXref OMIM:133020 semapv:UnspecifiedMatching +DOID:9240 erythromelalgia oboInOwl:hasDbXref UMLS_CUI:C0014804 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref UMLS_CUI:C0085280 semapv:UnspecifiedMatching +DOID:9245 Alagille syndrome oboInOwl:hasDbXref ORDO:52 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref GARD:804 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref NCI:C35139 semapv:UnspecifiedMatching +DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching +DOID:9245 Alagille syndrome skos:exactMatch MESH:D016738 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref MESH:D016738 semapv:UnspecifiedMatching DOID:9245 Alagille syndrome oboInOwl:hasDbXref ICD10CM:Q44.7 semapv:UnspecifiedMatching -DOID:9245 Alagille syndrome oboInOwl:hasDbXref OMIM:118450 semapv:UnspecifiedMatching +DOID:9245 Alagille syndrome oboInOwl:hasDbXref GARD:804 semapv:UnspecifiedMatching +DOID:9245 Alagille syndrome oboInOwl:hasDbXref NCI:C35139 semapv:UnspecifiedMatching DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref MESH:D028243 semapv:UnspecifiedMatching DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref ORDO:85458 semapv:UnspecifiedMatching DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C0268393 semapv:UnspecifiedMatching @@ -31137,134 +31163,134 @@ DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C1527338 semap DOID:9246 cerebral amyloid angiopathy oboInOwl:hasDbXref UMLS_CUI:C1956349 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS_CUI:C0265220 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref OMIM:146510 semapv:UnspecifiedMatching -DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref NCI:C84987 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref GARD:7305 semapv:UnspecifiedMatching DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:UnspecifiedMatching +DOID:9248 Pallister-Hall syndrome oboInOwl:hasDbXref NCI:C84987 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref MESH:C537599 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref OMIM:269860 semapv:UnspecifiedMatching DOID:9249 Beemer-Langer syndrome oboInOwl:hasDbXref UMLS_CUI:C0432198 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref GARD:5721 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref MESH:D055673 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref NCI:C84531 semapv:UnspecifiedMatching -DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref UMLS_CUI:C0796147 semapv:UnspecifiedMatching DOID:9250 acrocallosal syndrome skos:exactMatch MESH:D055673 semapv:UnspecifiedMatching -DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0002514 semapv:UnspecifiedMatching -DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref MESH:D000592 semapv:UnspecifiedMatching -DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref NCI:C97090 semapv:UnspecifiedMatching -DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD10CM:E72.9 semapv:UnspecifiedMatching +DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref OMIM:200990 semapv:UnspecifiedMatching +DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref MESH:D055673 semapv:UnspecifiedMatching +DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref GARD:5721 semapv:UnspecifiedMatching +DOID:9250 acrocallosal syndrome oboInOwl:hasDbXref NCI:C84531 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref GARD:5793 semapv:UnspecifiedMatching +DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD10CM:E72.9 semapv:UnspecifiedMatching DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref ICD9CM:270 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref GARD:8598 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10CM:C49.A semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICDO:8936/3 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 semapv:UnspecifiedMatching +DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref MESH:D000592 semapv:UnspecifiedMatching +DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref NCI:C97090 semapv:UnspecifiedMatching +DOID:9252 amino acid metabolic disorder oboInOwl:hasDbXref UMLS_CUI:C0002514 semapv:UnspecifiedMatching +DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0238198 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref NCI:C3868 semapv:UnspecifiedMatching +DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref MESH:D046152 semapv:UnspecifiedMatching DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref OMIM:606764 semapv:UnspecifiedMatching -DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref UMLS_CUI:C0238198 semapv:UnspecifiedMatching -DOID:9254 mast-cell leukemia oboInOwl:hasDbXref NCI:C3169 semapv:UnspecifiedMatching -DOID:9254 mast-cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching -DOID:9254 mast-cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023461 semapv:UnspecifiedMatching +DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICD10CM:C49.A semapv:UnspecifiedMatching +DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref GARD:8598 semapv:UnspecifiedMatching +DOID:9253 gastrointestinal stromal tumor oboInOwl:hasDbXref ICDO:8936/3 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref ICD10CM:C94.3 semapv:UnspecifiedMatching DOID:9254 mast-cell leukemia oboInOwl:hasDbXref ICDO:9742/3 semapv:UnspecifiedMatching +DOID:9254 mast-cell leukemia oboInOwl:hasDbXref MESH:D007946 semapv:UnspecifiedMatching +DOID:9254 mast-cell leukemia oboInOwl:hasDbXref NCI:C3169 semapv:UnspecifiedMatching +DOID:9254 mast-cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023461 semapv:UnspecifiedMatching +DOID:9255 frontotemporal dementia skos:exactMatch MESH:D057180 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref GARD:8436 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref MESH:C563003 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref OMIM:600274 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref ORDO:282 semapv:UnspecifiedMatching DOID:9255 frontotemporal dementia oboInOwl:hasDbXref UMLS_CUI:C0520716 semapv:UnspecifiedMatching -DOID:9255 frontotemporal dementia skos:exactMatch MESH:D057180 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS_CUI:C0009404 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref OMIM:114500 semapv:UnspecifiedMatching +DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS_CUI:C0346629 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref NCI:C4978 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref ICD10CM:C18.9 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref MESH:D015179 semapv:UnspecifiedMatching -DOID:9256 colorectal cancer oboInOwl:hasDbXref KEGG:05210 semapv:UnspecifiedMatching -DOID:9256 colorectal cancer oboInOwl:hasDbXref UMLS_CUI:C0346629 semapv:UnspecifiedMatching DOID:9256 colorectal cancer oboInOwl:hasDbXref NCI:C2956 semapv:UnspecifiedMatching -DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref UMLS_CUI:C0079661 semapv:UnspecifiedMatching -DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref NCI:C85222 semapv:UnspecifiedMatching +DOID:9256 colorectal cancer oboInOwl:hasDbXref KEGG:05210 semapv:UnspecifiedMatching DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref UMLS_CUI:C3266898 semapv:UnspecifiedMatching -DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref UMLS_CUI:C1847800 semapv:UnspecifiedMatching -DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref ORDO:895 semapv:UnspecifiedMatching +DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref GARD:5525 semapv:UnspecifiedMatching DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref MESH:D014849 semapv:UnspecifiedMatching +DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref NCI:C75008 semapv:UnspecifiedMatching +DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref NCI:C85222 semapv:UnspecifiedMatching DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref OMIMPS:193500 semapv:UnspecifiedMatching -DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref GARD:5525 semapv:UnspecifiedMatching DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref ORDO:3440 semapv:UnspecifiedMatching -DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref NCI:C75008 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238301 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153396 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153395 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153394 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153393 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153392 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ORDO:150 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:607107 semapv:UnspecifiedMatching +DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref ORDO:895 semapv:UnspecifiedMatching +DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref UMLS_CUI:C0079661 semapv:UnspecifiedMatching +DOID:9258 Waardenburg's syndrome oboInOwl:hasDbXref UMLS_CUI:C1847800 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:161550 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref OMIM:607107 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ORDO:150 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153392 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153394 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153396 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0238301 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref NCI:C9321 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153395 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref MESH:D009303 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref UMLS_CUI:C0153393 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.2 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.1 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.0 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11.3 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11.2 semapv:UnspecifiedMatching +DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.3 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11.1 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11.0 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD10CM:C11 semapv:UnspecifiedMatching DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref GARD:7163 semapv:UnspecifiedMatching -DOID:9261 nasopharynx carcinoma oboInOwl:hasDbXref ICD9CM:147.3 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref ORDO:394 semapv:UnspecifiedMatching -DOID:9263 homocystinuria oboInOwl:hasDbXref UMLS_CUI:C0019880 semapv:UnspecifiedMatching -DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236250 semapv:UnspecifiedMatching +DOID:9263 homocystinuria oboInOwl:hasDbXref OMIM:236200 semapv:UnspecifiedMatching +DOID:9263 homocystinuria oboInOwl:hasDbXref UMLS_CUI:C0019880 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref MESH:D006712 semapv:UnspecifiedMatching +DOID:9263 homocystinuria oboInOwl:hasDbXref ICD10CM:E72.11 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref GARD:10770 semapv:UnspecifiedMatching DOID:9263 homocystinuria oboInOwl:hasDbXref NCI:C84765 semapv:UnspecifiedMatching -DOID:9263 homocystinuria oboInOwl:hasDbXref ICD10CM:E72.11 semapv:UnspecifiedMatching DOID:9265 histidine metabolism disease oboInOwl:hasDbXref ICD10CM:E70.4 semapv:UnspecifiedMatching DOID:9265 histidine metabolism disease oboInOwl:hasDbXref ICD9CM:270.5 semapv:UnspecifiedMatching DOID:9265 histidine metabolism disease oboInOwl:hasDbXref UMLS_CUI:C0268512 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref GARD:6237 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref ICD10CM:E72.01 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref MESH:D003555 semapv:UnspecifiedMatching +DOID:9266 cystinuria oboInOwl:hasDbXref UMLS_CUI:C0010691 semapv:UnspecifiedMatching +DOID:9266 cystinuria oboInOwl:hasDbXref ORDO:214 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref NCI:C84664 semapv:UnspecifiedMatching DOID:9266 cystinuria oboInOwl:hasDbXref OMIM:220100 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref ORDO:214 semapv:UnspecifiedMatching -DOID:9266 cystinuria oboInOwl:hasDbXref UMLS_CUI:C0010691 semapv:UnspecifiedMatching -DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD9CM:270.6 semapv:UnspecifiedMatching -DOID:9267 urea cycle disorder oboInOwl:hasDbXref UMLS_CUI:C0154246 semapv:UnspecifiedMatching -DOID:9267 urea cycle disorder oboInOwl:hasDbXref NCI:C84785 semapv:UnspecifiedMatching +DOID:9266 cystinuria oboInOwl:hasDbXref ICD10CM:E72.01 semapv:UnspecifiedMatching +DOID:9266 cystinuria oboInOwl:hasDbXref GARD:6237 semapv:UnspecifiedMatching +DOID:9266 cystinuria oboInOwl:hasDbXref MESH:D003555 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref GARD:7837 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD10CM:E72.2 semapv:UnspecifiedMatching +DOID:9267 urea cycle disorder oboInOwl:hasDbXref ICD9CM:270.6 semapv:UnspecifiedMatching DOID:9267 urea cycle disorder oboInOwl:hasDbXref MESH:D056806 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy oboInOwl:hasDbXref GARD:7219 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy oboInOwl:hasDbXref ICD10CM:E72.51 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching +DOID:9267 urea cycle disorder oboInOwl:hasDbXref NCI:C84785 semapv:UnspecifiedMatching +DOID:9267 urea cycle disorder oboInOwl:hasDbXref UMLS_CUI:C0154246 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref NCI:C84937 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0751748 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy oboInOwl:hasDbXref GARD:7219 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy oboInOwl:hasDbXref ICD10CM:E72.51 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref GARD:3228 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ICD10CM:E71.0 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref NCI:C34806 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ORDO:511 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:615135 semapv:UnspecifiedMatching +DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ORDO:511 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref UMLS_CUI:C0024776 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref OMIM:246900 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ICD10CM:E71.0 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref GARD:3228 semapv:UnspecifiedMatching -DOID:9269 maple syrup urine disease oboInOwl:hasDbXref NCI:C34806 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref GARD:5775 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref NCI:C84546 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria skos:exactMatch MESH:D000474 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria oboInOwl:hasDbXref UMLS_CUI:C0002066 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref OMIM:203500 semapv:UnspecifiedMatching DOID:9270 alkaptonuria oboInOwl:hasDbXref ORDO:56 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria oboInOwl:hasDbXref UMLS_CUI:C0002066 semapv:UnspecifiedMatching -DOID:9270 alkaptonuria skos:exactMatch MESH:D000474 semapv:UnspecifiedMatching -DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268542 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria oboInOwl:hasDbXref MESH:D000474 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria oboInOwl:hasDbXref NCI:C84546 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria oboInOwl:hasDbXref ICD10CM:E70.29 semapv:UnspecifiedMatching +DOID:9270 alkaptonuria oboInOwl:hasDbXref GARD:5775 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref OMIM:311250 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref NCI:C84957 semapv:UnspecifiedMatching -DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref GARD:8391 semapv:UnspecifiedMatching +DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref UMLS_CUI:C0268542 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref ICD10CM:E72.4 semapv:UnspecifiedMatching +DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref GARD:8391 semapv:UnspecifiedMatching DOID:9271 ornithine carbamoyltransferase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref ICD10CM:E72.23 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref MESH:D020159 semapv:UnspecifiedMatching @@ -31272,85 +31298,85 @@ DOID:9273 citrullinemia oboInOwl:hasDbXref NCI:C84639 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref ORDO:187 semapv:UnspecifiedMatching DOID:9273 citrullinemia oboInOwl:hasDbXref UMLS_CUI:C0175683 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref OMIM:238710 semapv:UnspecifiedMatching +DOID:9274 hyperlysinemia oboInOwl:hasDbXref UMLS_CUI:C0268553 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref ORDO:2203 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref OMIM:238700 semapv:UnspecifiedMatching -DOID:9274 hyperlysinemia oboInOwl:hasDbXref UMLS_CUI:C0268553 semapv:UnspecifiedMatching +DOID:9274 hyperlysinemia oboInOwl:hasDbXref GARD:2828 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref MESH:D020167 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref ICD10CM:E72.3 semapv:UnspecifiedMatching -DOID:9274 hyperlysinemia oboInOwl:hasDbXref GARD:2828 semapv:UnspecifiedMatching DOID:9274 hyperlysinemia oboInOwl:hasDbXref NCI:C123433 semapv:UnspecifiedMatching DOID:9275 tyrosinemia oboInOwl:hasDbXref ICD10CM:E70.21 semapv:UnspecifiedMatching DOID:9275 tyrosinemia oboInOwl:hasDbXref UMLS_CUI:C0268483 semapv:UnspecifiedMatching DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref ICD9CM:334.2 semapv:UnspecifiedMatching DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref MESH:D013132 semapv:UnspecifiedMatching DOID:9277 primary cerebellar degeneration oboInOwl:hasDbXref UMLS_CUI:C0033132 semapv:UnspecifiedMatching -DOID:9278 hyperargininemia oboInOwl:hasDbXref ICD10CM:E72.21 semapv:UnspecifiedMatching -DOID:9278 hyperargininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching -DOID:9278 hyperargininemia oboInOwl:hasDbXref NCI:C84568 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref OMIM:207800 semapv:UnspecifiedMatching +DOID:9278 hyperargininemia oboInOwl:hasDbXref NCI:C84568 semapv:UnspecifiedMatching DOID:9278 hyperargininemia oboInOwl:hasDbXref UMLS_CUI:C0268548 semapv:UnspecifiedMatching -DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref UMLS_CUI:C0598608 semapv:UnspecifiedMatching -DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref OMIM:603174 semapv:UnspecifiedMatching +DOID:9278 hyperargininemia oboInOwl:hasDbXref ICD10CM:E72.21 semapv:UnspecifiedMatching +DOID:9278 hyperargininemia oboInOwl:hasDbXref MESH:D020162 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref MESH:D020138 semapv:UnspecifiedMatching DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref NCI:C84770 semapv:UnspecifiedMatching +DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref OMIM:603174 semapv:UnspecifiedMatching +DOID:9279 hyperhomocysteinemia oboInOwl:hasDbXref UMLS_CUI:C0598608 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref GARD:7269 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref MESH:D020165 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref NCI:C84612 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref OMIM:237300 semapv:UnspecifiedMatching DOID:9280 carbamoyl phosphate synthetase I deficiency disease oboInOwl:hasDbXref UMLS_CUI:C0751753 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS_CUI:C0085547 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS_CUI:C0031485 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref ORDO:716 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref OMIM:261600 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref ICD9CM:270.1 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref MESH:D017042 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref NCI:C81315 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref UMLS_CUI:C0085547 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref MESH:D010661 semapv:UnspecifiedMatching DOID:9281 phenylketonuria oboInOwl:hasDbXref GARD:7383 semapv:UnspecifiedMatching -DOID:9281 phenylketonuria oboInOwl:hasDbXref NCI:C81315 semapv:UnspecifiedMatching -DOID:9282 ocular hypertension oboInOwl:hasDbXref NCI:C3285 semapv:UnspecifiedMatching -DOID:9282 ocular hypertension oboInOwl:hasDbXref MESH:D009798 semapv:UnspecifiedMatching -DOID:9282 ocular hypertension oboInOwl:hasDbXref UMLS_CUI:C0028840 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref MESH:D017042 semapv:UnspecifiedMatching +DOID:9281 phenylketonuria oboInOwl:hasDbXref ICD9CM:270.1 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref ICD10CM:H40.05 semapv:UnspecifiedMatching DOID:9282 ocular hypertension oboInOwl:hasDbXref ICD9CM:365.04 semapv:UnspecifiedMatching -DOID:9283 borderline glaucoma oboInOwl:hasDbXref UMLS_CUI:C0549470 semapv:UnspecifiedMatching +DOID:9282 ocular hypertension oboInOwl:hasDbXref MESH:D009798 semapv:UnspecifiedMatching +DOID:9282 ocular hypertension oboInOwl:hasDbXref NCI:C3285 semapv:UnspecifiedMatching +DOID:9282 ocular hypertension oboInOwl:hasDbXref UMLS_CUI:C0028840 semapv:UnspecifiedMatching DOID:9283 borderline glaucoma oboInOwl:hasDbXref ICD10CM:H40.00 semapv:UnspecifiedMatching DOID:9283 borderline glaucoma oboInOwl:hasDbXref ICD9CM:365.00 semapv:UnspecifiedMatching -DOID:9286 priapism oboInOwl:hasDbXref GARD:10016 semapv:UnspecifiedMatching -DOID:9286 priapism oboInOwl:hasDbXref ICD10CM:N48.3 semapv:UnspecifiedMatching -DOID:9286 priapism oboInOwl:hasDbXref ICD9CM:607.3 semapv:UnspecifiedMatching +DOID:9283 borderline glaucoma oboInOwl:hasDbXref UMLS_CUI:C0549470 semapv:UnspecifiedMatching +DOID:9286 priapism oboInOwl:hasDbXref UMLS_CUI:C0033117 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref MESH:D011317 semapv:UnspecifiedMatching DOID:9286 priapism oboInOwl:hasDbXref NCI:C85022 semapv:UnspecifiedMatching -DOID:9286 priapism oboInOwl:hasDbXref UMLS_CUI:C0033117 semapv:UnspecifiedMatching +DOID:9286 priapism oboInOwl:hasDbXref ICD10CM:N48.3 semapv:UnspecifiedMatching +DOID:9286 priapism oboInOwl:hasDbXref GARD:10016 semapv:UnspecifiedMatching +DOID:9286 priapism oboInOwl:hasDbXref ICD9CM:607.3 semapv:UnspecifiedMatching DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref ICD10CM:H05.82 semapv:UnspecifiedMatching DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref ICD9CM:376.82 semapv:UnspecifiedMatching DOID:929 myopathy of extraocular muscle oboInOwl:hasDbXref UMLS_CUI:C0155286 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref UMLS_CUI:C0158651 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref NCI:C87175 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref MESH:D002971 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref UMLS_CUI:C0008924 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref ICD9CM:749.1 semapv:UnspecifiedMatching -DOID:9296 cleft lip oboInOwl:hasDbXref ICD10CM:Q36 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref EFO:0003959 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref ICD10CM:Q36 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref ICD9CM:749.1 semapv:UnspecifiedMatching DOID:9296 cleft lip oboInOwl:hasDbXref ICD9CM:749.11 semapv:UnspecifiedMatching -DOID:9297 lip disease oboInOwl:hasDbXref ICD10CM:K13.0 semapv:UnspecifiedMatching -DOID:9297 lip disease oboInOwl:hasDbXref ICD9CM:528.5 semapv:UnspecifiedMatching -DOID:9297 lip disease oboInOwl:hasDbXref MESH:D008047 semapv:UnspecifiedMatching -DOID:9297 lip disease oboInOwl:hasDbXref NCI:C26818 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref MESH:D002971 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref NCI:C87175 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref UMLS_CUI:C0008924 semapv:UnspecifiedMatching +DOID:9296 cleft lip oboInOwl:hasDbXref UMLS_CUI:C0158651 semapv:UnspecifiedMatching DOID:9297 lip disease oboInOwl:hasDbXref UMLS_CUI:C0023760 semapv:UnspecifiedMatching -DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290402 semapv:UnspecifiedMatching -DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346611 semapv:UnspecifiedMatching +DOID:9297 lip disease oboInOwl:hasDbXref NCI:C26818 semapv:UnspecifiedMatching +DOID:9297 lip disease oboInOwl:hasDbXref MESH:D008047 semapv:UnspecifiedMatching +DOID:9297 lip disease oboInOwl:hasDbXref ICD9CM:528.5 semapv:UnspecifiedMatching +DOID:9297 lip disease oboInOwl:hasDbXref ICD10CM:K13.0 semapv:UnspecifiedMatching DOID:9299 myocardium cancer oboInOwl:hasDbXref NCI:C4569 semapv:UnspecifiedMatching DOID:9299 myocardium cancer oboInOwl:hasDbXref NCI:C5349 semapv:UnspecifiedMatching +DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS_CUI:C0346611 semapv:UnspecifiedMatching +DOID:9299 myocardium cancer oboInOwl:hasDbXref UMLS_CUI:C1290402 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref ICD10CM:F80.9 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref MESH:D007806 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref NCI:C97155 semapv:UnspecifiedMatching DOID:93 language disorder oboInOwl:hasDbXref UMLS_CUI:C0023015 semapv:UnspecifiedMatching -DOID:930 orbital disease oboInOwl:hasDbXref UMLS_CUI:C0029182 semapv:UnspecifiedMatching -DOID:930 orbital disease oboInOwl:hasDbXref MESH:D009916 semapv:UnspecifiedMatching -DOID:930 orbital disease oboInOwl:hasDbXref ICD9CM:376.9 semapv:UnspecifiedMatching DOID:930 orbital disease oboInOwl:hasDbXref ICD10CM:H05.9 semapv:UnspecifiedMatching -DOID:9300 neurofibroma of the heart oboInOwl:hasDbXref NCI:C5359 semapv:UnspecifiedMatching +DOID:930 orbital disease oboInOwl:hasDbXref ICD9CM:376.9 semapv:UnspecifiedMatching +DOID:930 orbital disease oboInOwl:hasDbXref MESH:D009916 semapv:UnspecifiedMatching +DOID:930 orbital disease oboInOwl:hasDbXref UMLS_CUI:C0029182 semapv:UnspecifiedMatching DOID:9300 neurofibroma of the heart oboInOwl:hasDbXref UMLS_CUI:C1096349 semapv:UnspecifiedMatching +DOID:9300 neurofibroma of the heart oboInOwl:hasDbXref NCI:C5359 semapv:UnspecifiedMatching DOID:9305 splenic tuberculosis oboInOwl:hasDbXref ICD10CM:A18.85 semapv:UnspecifiedMatching DOID:9305 splenic tuberculosis oboInOwl:hasDbXref ICD9CM:017.7 semapv:UnspecifiedMatching DOID:9305 splenic tuberculosis oboInOwl:hasDbXref MESH:D014400 semapv:UnspecifiedMatching @@ -31359,40 +31385,40 @@ DOID:9306 mechanical strabismus oboInOwl:hasDbXref ICD10CM:H50.6 semapv:Unspecif DOID:9306 mechanical strabismus oboInOwl:hasDbXref ICD9CM:378.6 semapv:UnspecifiedMatching DOID:9306 mechanical strabismus oboInOwl:hasDbXref MESH:D013285 semapv:UnspecifiedMatching DOID:9306 mechanical strabismus oboInOwl:hasDbXref UMLS_CUI:C0152223 semapv:UnspecifiedMatching -DOID:9307 rectal prolapse oboInOwl:hasDbXref NCI:C34973 semapv:UnspecifiedMatching -DOID:9307 rectal prolapse oboInOwl:hasDbXref MESH:D012005 semapv:UnspecifiedMatching -DOID:9307 rectal prolapse oboInOwl:hasDbXref UMLS_CUI:C0034888 semapv:UnspecifiedMatching DOID:9307 rectal prolapse oboInOwl:hasDbXref ICD10CM:K62.3 semapv:UnspecifiedMatching DOID:9307 rectal prolapse oboInOwl:hasDbXref ICD9CM:569.1 semapv:UnspecifiedMatching -DOID:931 monieziasis oboInOwl:hasDbXref MESH:D008989 semapv:UnspecifiedMatching +DOID:9307 rectal prolapse oboInOwl:hasDbXref MESH:D012005 semapv:UnspecifiedMatching +DOID:9307 rectal prolapse oboInOwl:hasDbXref NCI:C34973 semapv:UnspecifiedMatching +DOID:9307 rectal prolapse oboInOwl:hasDbXref UMLS_CUI:C0034888 semapv:UnspecifiedMatching DOID:931 monieziasis oboInOwl:hasDbXref UMLS_CUI:C0026414 semapv:UnspecifiedMatching -DOID:9310 nasal cavity benign neoplasm oboInOwl:hasDbXref NCI:C4603 semapv:UnspecifiedMatching +DOID:931 monieziasis oboInOwl:hasDbXref MESH:D008989 semapv:UnspecifiedMatching DOID:9310 nasal cavity benign neoplasm oboInOwl:hasDbXref UMLS_CUI:C0347215 semapv:UnspecifiedMatching -DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref UMLS_CUI:C0008681 semapv:UnspecifiedMatching -DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref NCI:C34472 semapv:UnspecifiedMatching +DOID:9310 nasal cavity benign neoplasm oboInOwl:hasDbXref NCI:C4603 semapv:UnspecifiedMatching DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref ICD10CM:J32.2 semapv:UnspecifiedMatching DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref ICD9CM:473.2 semapv:UnspecifiedMatching +DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref NCI:C34472 semapv:UnspecifiedMatching +DOID:9312 chronic ethmoiditis oboInOwl:hasDbXref UMLS_CUI:C0008681 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref ICD10CM:I89.1 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref ICD9CM:457.2 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref MESH:D008205 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref NCI:C34790 semapv:UnspecifiedMatching DOID:9317 lymphangitis oboInOwl:hasDbXref UMLS_CUI:C0024225 semapv:UnspecifiedMatching -DOID:9335 scotoma oboInOwl:hasDbXref UMLS_CUI:C0029657 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref UMLS_CUI:C0152192 semapv:UnspecifiedMatching +DOID:9335 scotoma oboInOwl:hasDbXref UMLS_CUI:C0029657 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD9CM:368.44 semapv:UnspecifiedMatching -DOID:9335 scotoma oboInOwl:hasDbXref ICD10CM:H53.42 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD10CM:H53.45 semapv:UnspecifiedMatching +DOID:9335 scotoma oboInOwl:hasDbXref ICD10CM:H53.42 semapv:UnspecifiedMatching DOID:9335 scotoma oboInOwl:hasDbXref ICD9CM:368.42 semapv:UnspecifiedMatching DOID:9336 bestiality oboInOwl:hasDbXref ICD9CM:302.1 semapv:UnspecifiedMatching DOID:9336 bestiality oboInOwl:hasDbXref UMLS_CUI:C0152186 semapv:UnspecifiedMatching DOID:9339 urethral false passage oboInOwl:hasDbXref ICD10CM:N36.5 semapv:UnspecifiedMatching DOID:9339 urethral false passage oboInOwl:hasDbXref ICD9CM:599.4 semapv:UnspecifiedMatching DOID:9339 urethral false passage oboInOwl:hasDbXref UMLS_CUI:C0156286 semapv:UnspecifiedMatching -DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS_CUI:C0042769 semapv:UnspecifiedMatching -DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS_CUI:C0003723 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref NCI:C3439 semapv:UnspecifiedMatching -DOID:934 viral infectious disease oboInOwl:hasDbXref MESH:D014777 semapv:UnspecifiedMatching +DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS_CUI:C0042769 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref NCI:C34396 semapv:UnspecifiedMatching +DOID:934 viral infectious disease oboInOwl:hasDbXref MESH:D014777 semapv:UnspecifiedMatching +DOID:934 viral infectious disease oboInOwl:hasDbXref UMLS_CUI:C0003723 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref ICD9CM:060-066.99 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref ICD10CM:B34.9 semapv:UnspecifiedMatching DOID:934 viral infectious disease oboInOwl:hasDbXref ICD10CM:A94 semapv:UnspecifiedMatching @@ -31407,48 +31433,48 @@ DOID:9348 carotid artery dissection oboInOwl:hasDbXref ICD10CM:I77.71 semapv:Uns DOID:9348 carotid artery dissection oboInOwl:hasDbXref ICD9CM:443.21 semapv:UnspecifiedMatching DOID:9348 carotid artery dissection oboInOwl:hasDbXref NCI:C125662 semapv:UnspecifiedMatching DOID:9348 carotid artery dissection oboInOwl:hasDbXref UMLS_CUI:C0338585 semapv:UnspecifiedMatching +DOID:9351 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011849 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref NCI:C2985 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref MESH:D003920 semapv:UnspecifiedMatching -DOID:9351 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011849 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E08-E13 semapv:UnspecifiedMatching DOID:9351 diabetes mellitus oboInOwl:hasDbXref ICD9CM:250 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011860 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:608036 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:603694 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601283 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:125853 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601407 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref MESH:D003924 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref KEGG:04930 semapv:UnspecifiedMatching -DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E11 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref EFO:0001360 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E11 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref KEGG:04930 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref MESH:D003924 semapv:UnspecifiedMatching DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref NCI:C26747 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:125853 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601283 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:601407 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:603694 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref OMIM:608036 semapv:UnspecifiedMatching +DOID:9352 type 2 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011860 semapv:UnspecifiedMatching DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref ICD9CM:726.63 semapv:UnspecifiedMatching DOID:9358 fibular collateral ligament bursitis oboInOwl:hasDbXref UMLS_CUI:C0158316 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref NCI:C96413 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref UMLS_CUI:C0085584 semapv:UnspecifiedMatching -DOID:936 brain disease oboInOwl:hasDbXref UMLS_CUI:C0006111 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref NCI:C26920 semapv:UnspecifiedMatching +DOID:936 brain disease oboInOwl:hasDbXref MESH:D001927 semapv:UnspecifiedMatching +DOID:936 brain disease oboInOwl:hasDbXref UMLS_CUI:C0006111 semapv:UnspecifiedMatching +DOID:936 brain disease oboInOwl:hasDbXref ICD9CM:348.30 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref ICD10CM:G93.40 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref ICD9CM:348.9 semapv:UnspecifiedMatching -DOID:936 brain disease oboInOwl:hasDbXref ICD9CM:348.30 semapv:UnspecifiedMatching DOID:936 brain disease oboInOwl:hasDbXref ICD10CM:G93.9 semapv:UnspecifiedMatching -DOID:936 brain disease oboInOwl:hasDbXref MESH:D001927 semapv:UnspecifiedMatching DOID:9360 intrinsic asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching DOID:9360 intrinsic asthma oboInOwl:hasDbXref ICD9CM:493.1 semapv:UnspecifiedMatching DOID:9360 intrinsic asthma oboInOwl:hasDbXref UMLS_CUI:C0155880 semapv:UnspecifiedMatching -DOID:9362 status asthmaticus oboInOwl:hasDbXref UMLS_CUI:C0038218 semapv:UnspecifiedMatching DOID:9362 status asthmaticus oboInOwl:hasDbXref ICD9CM:493.91 semapv:UnspecifiedMatching DOID:9362 status asthmaticus oboInOwl:hasDbXref MESH:D013224 semapv:UnspecifiedMatching DOID:9362 status asthmaticus oboInOwl:hasDbXref NCI:C122577 semapv:UnspecifiedMatching -DOID:9365 vesiculitis oboInOwl:hasDbXref UMLS_CUI:C0042588 semapv:UnspecifiedMatching +DOID:9362 status asthmaticus oboInOwl:hasDbXref UMLS_CUI:C0038218 semapv:UnspecifiedMatching DOID:9365 vesiculitis oboInOwl:hasDbXref ICD10CM:N49.0 semapv:UnspecifiedMatching DOID:9365 vesiculitis oboInOwl:hasDbXref ICD9CM:608.0 semapv:UnspecifiedMatching -DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.2 semapv:UnspecifiedMatching -DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.40 semapv:UnspecifiedMatching +DOID:9365 vesiculitis oboInOwl:hasDbXref UMLS_CUI:C0042588 semapv:UnspecifiedMatching +DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0022573 semapv:UnspecifiedMatching DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref MESH:D007637 semapv:UnspecifiedMatching DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref NCI:C34744 semapv:UnspecifiedMatching -DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0022573 semapv:UnspecifiedMatching +DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref ICD10CM:H16.2 semapv:UnspecifiedMatching +DOID:9368 keratoconjunctivitis oboInOwl:hasDbXref ICD9CM:370.40 semapv:UnspecifiedMatching DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref ICD10CM:H05.11 semapv:UnspecifiedMatching DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref MESH:D016727 semapv:UnspecifiedMatching DOID:9369 orbital plasma cell granuloma oboInOwl:hasDbXref UMLS_CUI:C0085270 semapv:UnspecifiedMatching @@ -31457,13 +31483,13 @@ DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref ICD9CM:376.30 semapv:Unspecif DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref MESH:D005094 semapv:UnspecifiedMatching DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref NCI:C87114 semapv:UnspecifiedMatching DOID:9370 obsolete exophthalmos oboInOwl:hasDbXref UMLS_CUI:C0015300 semapv:UnspecifiedMatching -DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref UMLS_CUI:C0016782 semapv:UnspecifiedMatching -DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref ICD9CM:364.21 semapv:UnspecifiedMatching -DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref ICD10CM:H20.81 semapv:UnspecifiedMatching DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref GARD:6791 semapv:UnspecifiedMatching +DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref ICD10CM:H20.81 semapv:UnspecifiedMatching +DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref ICD9CM:364.21 semapv:UnspecifiedMatching +DOID:9375 Fuchs' heterochromic uveitis oboInOwl:hasDbXref UMLS_CUI:C0016782 semapv:UnspecifiedMatching +DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref UMLS_CUI:C0152138 semapv:UnspecifiedMatching DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref GARD:10737 semapv:UnspecifiedMatching DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref ICD9CM:364.22 semapv:UnspecifiedMatching -DOID:9378 glaucomatocyclitic crisis oboInOwl:hasDbXref UMLS_CUI:C0152138 semapv:UnspecifiedMatching DOID:9383 iridocyclitis oboInOwl:hasDbXref ICD10CM:H20.01 semapv:UnspecifiedMatching DOID:9383 iridocyclitis oboInOwl:hasDbXref ICD9CM:364.01 semapv:UnspecifiedMatching DOID:9383 iridocyclitis oboInOwl:hasDbXref ICD9CM:364.2 semapv:UnspecifiedMatching @@ -31473,12 +31499,12 @@ DOID:9383 iridocyclitis skos:exactMatch MESH:D015863 semapv:UnspecifiedMatching DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref ICD10CM:A54.32 semapv:UnspecifiedMatching DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref ICD9CM:098.41 semapv:UnspecifiedMatching DOID:9384 gonococcal iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0153212 semapv:UnspecifiedMatching -DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0339320 semapv:UnspecifiedMatching DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref ICD10CM:H20.2 semapv:UnspecifiedMatching DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref ICD9CM:364.23 semapv:UnspecifiedMatching -DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref ICD10CM:H20.03 semapv:UnspecifiedMatching +DOID:9388 lens-induced iridocyclitis oboInOwl:hasDbXref UMLS_CUI:C0339320 semapv:UnspecifiedMatching DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref ICD9CM:364.03 semapv:UnspecifiedMatching DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref UMLS_CUI:C0154911 semapv:UnspecifiedMatching +DOID:9389 infectious anterior uveitis oboInOwl:hasDbXref ICD10CM:H20.03 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref ICD10CM:J04.1 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref ICD9CM:464.1 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref MESH:D014136 semapv:UnspecifiedMatching @@ -31486,136 +31512,136 @@ DOID:9392 tracheitis oboInOwl:hasDbXref NCI:C78643 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref UMLS_CUI:C0040584 semapv:UnspecifiedMatching DOID:9392 tracheitis oboInOwl:hasDbXref UMLS_CUI:C0149513 semapv:UnspecifiedMatching DOID:9392 tracheitis skos:exactMatch MESH:D014136 semapv:UnspecifiedMatching -DOID:9395 croup oboInOwl:hasDbXref NCI:C26735 semapv:UnspecifiedMatching -DOID:9395 croup oboInOwl:hasDbXref UMLS_CUI:C0010380 semapv:UnspecifiedMatching -DOID:9395 croup oboInOwl:hasDbXref ICD9CM:464.4 semapv:UnspecifiedMatching DOID:9395 croup oboInOwl:hasDbXref ICD10CM:J05.0 semapv:UnspecifiedMatching +DOID:9395 croup oboInOwl:hasDbXref ICD9CM:464.4 semapv:UnspecifiedMatching DOID:9395 croup oboInOwl:hasDbXref MESH:D003440 semapv:UnspecifiedMatching -DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD10CM:J04.0 semapv:UnspecifiedMatching -DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD9CM:464.0 semapv:UnspecifiedMatching -DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD9CM:464.01 semapv:UnspecifiedMatching +DOID:9395 croup oboInOwl:hasDbXref NCI:C26735 semapv:UnspecifiedMatching +DOID:9395 croup oboInOwl:hasDbXref UMLS_CUI:C0010380 semapv:UnspecifiedMatching +DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS_CUI:C0949123 semapv:UnspecifiedMatching DOID:9396 acute laryngitis oboInOwl:hasDbXref NCI:C26688 semapv:UnspecifiedMatching DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS_CUI:C0001327 semapv:UnspecifiedMatching -DOID:9396 acute laryngitis oboInOwl:hasDbXref UMLS_CUI:C0949123 semapv:UnspecifiedMatching +DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD9CM:464.0 semapv:UnspecifiedMatching +DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD10CM:J04.0 semapv:UnspecifiedMatching +DOID:9396 acute laryngitis oboInOwl:hasDbXref ICD9CM:464.01 semapv:UnspecifiedMatching +DOID:9398 epiglottitis oboInOwl:hasDbXref ICD10CM:J05.1 semapv:UnspecifiedMatching +DOID:9398 epiglottitis oboInOwl:hasDbXref ICD10CM:J05.10 semapv:UnspecifiedMatching +DOID:9398 epiglottitis oboInOwl:hasDbXref ICD9CM:464.3 semapv:UnspecifiedMatching +DOID:9398 epiglottitis oboInOwl:hasDbXref MESH:D004826 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref NCI:C116007 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref UMLS_CUI:C0014541 semapv:UnspecifiedMatching -DOID:9398 epiglottitis oboInOwl:hasDbXref MESH:D004826 semapv:UnspecifiedMatching DOID:9398 epiglottitis oboInOwl:hasDbXref UMLS_CUI:C0155814 semapv:UnspecifiedMatching -DOID:9398 epiglottitis oboInOwl:hasDbXref ICD10CM:J05.10 semapv:UnspecifiedMatching -DOID:9398 epiglottitis oboInOwl:hasDbXref ICD10CM:J05.1 semapv:UnspecifiedMatching -DOID:9398 epiglottitis oboInOwl:hasDbXref ICD9CM:464.3 semapv:UnspecifiedMatching DOID:9401 epididymo-orchitis oboInOwl:hasDbXref UMLS_CUI:C0149881 semapv:UnspecifiedMatching DOID:9401 epididymo-orchitis oboInOwl:hasDbXref ICD10CM:N45.3 semapv:UnspecifiedMatching DOID:9401 epididymo-orchitis oboInOwl:hasDbXref ICD9CM:604 semapv:UnspecifiedMatching DOID:9402 epididymitis oboInOwl:hasDbXref ICD10CM:N45.1 semapv:UnspecifiedMatching DOID:9402 epididymitis oboInOwl:hasDbXref MESH:D004823 semapv:UnspecifiedMatching DOID:9402 epididymitis oboInOwl:hasDbXref UMLS_CUI:C0014534 semapv:UnspecifiedMatching +DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613038 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref ORDO:95494 semapv:UnspecifiedMatching +DOID:9406 hypopituitarism oboInOwl:hasDbXref UMLS_CUI:C0020635 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613986 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:613038 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:262700 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref UMLS_CUI:C0020635 semapv:UnspecifiedMatching +DOID:9406 hypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching +DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:221750 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref NCI:C62591 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref MESH:D007018 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:9406 hypopituitarism oboInOwl:hasDbXref GARD:2917 semapv:UnspecifiedMatching -DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:221750 semapv:UnspecifiedMatching +DOID:9406 hypopituitarism oboInOwl:hasDbXref OMIM:262600 semapv:UnspecifiedMatching DOID:9407 strictly posterior acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410.60 semapv:UnspecifiedMatching DOID:9407 strictly posterior acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155652 semapv:UnspecifiedMatching -DOID:9408 acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155626 semapv:UnspecifiedMatching -DOID:9408 acute myocardial infarction oboInOwl:hasDbXref NCI:C35204 semapv:UnspecifiedMatching DOID:9408 acute myocardial infarction oboInOwl:hasDbXref ICD10CM:I21 semapv:UnspecifiedMatching DOID:9408 acute myocardial infarction oboInOwl:hasDbXref ICD9CM:410 semapv:UnspecifiedMatching +DOID:9408 acute myocardial infarction oboInOwl:hasDbXref NCI:C35204 semapv:UnspecifiedMatching +DOID:9408 acute myocardial infarction oboInOwl:hasDbXref UMLS_CUI:C0155626 semapv:UnspecifiedMatching +DOID:9409 diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0011848 semapv:UnspecifiedMatching +DOID:9409 diabetes insipidus oboInOwl:hasDbXref NCI:C43263 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref ICD10CM:E23.2 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref ICD9CM:253.5 semapv:UnspecifiedMatching DOID:9409 diabetes insipidus oboInOwl:hasDbXref MESH:D003919 semapv:UnspecifiedMatching -DOID:9409 diabetes insipidus oboInOwl:hasDbXref NCI:C43263 semapv:UnspecifiedMatching -DOID:9409 diabetes insipidus oboInOwl:hasDbXref UMLS_CUI:C0011848 semapv:UnspecifiedMatching +DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching +DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD9CM:253.2 semapv:UnspecifiedMatching +DOID:9410 panhypopituitarism oboInOwl:hasDbXref MESH:C580003 semapv:UnspecifiedMatching +DOID:9410 panhypopituitarism oboInOwl:hasDbXref NCI:C110940 semapv:UnspecifiedMatching +DOID:9410 panhypopituitarism oboInOwl:hasDbXref OMIMPS:613038 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref ORDO:90695 semapv:UnspecifiedMatching DOID:9410 panhypopituitarism oboInOwl:hasDbXref UMLS_CUI:C0242343 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref OMIMPS:613038 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref NCI:C110940 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref MESH:C580003 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD9CM:253.2 semapv:UnspecifiedMatching -DOID:9410 panhypopituitarism oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref ICD10CM:J45 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref ICD9CM:493.0 semapv:UnspecifiedMatching DOID:9415 allergic asthma oboInOwl:hasDbXref UMLS_CUI:C0155877 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref ICD10CM:H01.0 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155181 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref UMLS_CUI:C0005741 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref NCI:C112183 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref MESH:D001762 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref ICD9CM:373.0 semapv:UnspecifiedMatching +DOID:9423 blepharitis oboInOwl:hasDbXref ICD10CM:H01.0 semapv:UnspecifiedMatching DOID:9423 blepharitis oboInOwl:hasDbXref ICD9CM:373.4 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref MESH:D001762 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref NCI:C112183 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref UMLS_CUI:C0005741 semapv:UnspecifiedMatching -DOID:9423 blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155181 semapv:UnspecifiedMatching -DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0151620 semapv:UnspecifiedMatching -DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref NCI:C3503 semapv:UnspecifiedMatching -DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref ICD9CM:437.2 semapv:UnspecifiedMatching DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref ICD10CM:I67.4 semapv:UnspecifiedMatching +DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref ICD9CM:437.2 semapv:UnspecifiedMatching DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref MESH:D020343 semapv:UnspecifiedMatching +DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref NCI:C3503 semapv:UnspecifiedMatching +DOID:9427 hypertensive encephalopathy oboInOwl:hasDbXref UMLS_CUI:C0151620 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref MESH:D019586 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref NCI:C84791 semapv:UnspecifiedMatching DOID:9428 intracranial hypertension oboInOwl:hasDbXref UMLS_CUI:C0151740 semapv:UnspecifiedMatching +DOID:9432 renal glycosuria oboInOwl:hasDbXref UMLS_CUI:C0017980 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref GARD:7548 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref ICD9CM:271.4 semapv:UnspecifiedMatching DOID:9432 renal glycosuria oboInOwl:hasDbXref OMIM:233100 semapv:UnspecifiedMatching -DOID:9432 renal glycosuria oboInOwl:hasDbXref UMLS_CUI:C0017980 semapv:UnspecifiedMatching -DOID:9439 chronic cholangitis oboInOwl:hasDbXref NCI:C35335 semapv:UnspecifiedMatching DOID:9439 chronic cholangitis oboInOwl:hasDbXref UMLS_CUI:C0267918 semapv:UnspecifiedMatching +DOID:9439 chronic cholangitis oboInOwl:hasDbXref NCI:C35335 semapv:UnspecifiedMatching DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref NCI:C40215 semapv:UnspecifiedMatching DOID:9442 cervical Mullerian papilloma oboInOwl:hasDbXref UMLS_CUI:C1516427 semapv:UnspecifiedMatching DOID:9445 cervix squamous papilloma oboInOwl:hasDbXref NCI:C6342 semapv:UnspecifiedMatching DOID:9445 cervix squamous papilloma oboInOwl:hasDbXref UMLS_CUI:C1336900 semapv:UnspecifiedMatching -DOID:9446 cholangitis oboInOwl:hasDbXref NCI:C26718 semapv:UnspecifiedMatching -DOID:9446 cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008311 semapv:UnspecifiedMatching -DOID:9446 cholangitis oboInOwl:hasDbXref MESH:D002761 semapv:UnspecifiedMatching DOID:9446 cholangitis oboInOwl:hasDbXref ICD10CM:K83.0 semapv:UnspecifiedMatching DOID:9446 cholangitis oboInOwl:hasDbXref ICD9CM:576.1 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref ICD10CM:K70.0 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref ICD9CM:571.0 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref MESH:D005234 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref MESH:D005235 semapv:UnspecifiedMatching -DOID:9452 fatty liver disease oboInOwl:hasDbXref OMIM:228100 semapv:UnspecifiedMatching +DOID:9446 cholangitis oboInOwl:hasDbXref MESH:D002761 semapv:UnspecifiedMatching +DOID:9446 cholangitis oboInOwl:hasDbXref NCI:C26718 semapv:UnspecifiedMatching +DOID:9446 cholangitis oboInOwl:hasDbXref UMLS_CUI:C0008311 semapv:UnspecifiedMatching DOID:9452 fatty liver disease oboInOwl:hasDbXref UMLS_CUI:C0015695 semapv:UnspecifiedMatching +DOID:9452 fatty liver disease oboInOwl:hasDbXref OMIM:228100 semapv:UnspecifiedMatching +DOID:9452 fatty liver disease oboInOwl:hasDbXref MESH:D005235 semapv:UnspecifiedMatching DOID:9452 fatty liver disease oboInOwl:hasDbXref UMLS_CUI:C0015696 semapv:UnspecifiedMatching -DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD10CM:E75.6 semapv:UnspecifiedMatching -DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.7 semapv:UnspecifiedMatching -DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.8 semapv:UnspecifiedMatching -DOID:9455 lipid storage disease oboInOwl:hasDbXref MESH:D008064 semapv:UnspecifiedMatching +DOID:9452 fatty liver disease oboInOwl:hasDbXref ICD9CM:571.0 semapv:UnspecifiedMatching +DOID:9452 fatty liver disease oboInOwl:hasDbXref ICD10CM:K70.0 semapv:UnspecifiedMatching +DOID:9452 fatty liver disease oboInOwl:hasDbXref MESH:D005234 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref UMLS_CUI:C0023794 semapv:UnspecifiedMatching +DOID:9455 lipid storage disease oboInOwl:hasDbXref MESH:D008064 semapv:UnspecifiedMatching DOID:9455 lipid storage disease oboInOwl:hasDbXref UMLS_CUI:C0029591 semapv:UnspecifiedMatching -DOID:9459 isthmus cancer oboInOwl:hasDbXref UMLS_CUI:C0153575 semapv:UnspecifiedMatching +DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.7 semapv:UnspecifiedMatching +DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD10CM:E75.6 semapv:UnspecifiedMatching +DOID:9455 lipid storage disease oboInOwl:hasDbXref ICD9CM:272.8 semapv:UnspecifiedMatching DOID:9459 isthmus cancer oboInOwl:hasDbXref ICD9CM:182.1 semapv:UnspecifiedMatching +DOID:9459 isthmus cancer oboInOwl:hasDbXref UMLS_CUI:C0153575 semapv:UnspecifiedMatching DOID:946 dientamoebiasis oboInOwl:hasDbXref MESH:D004030 semapv:UnspecifiedMatching DOID:946 dientamoebiasis oboInOwl:hasDbXref UMLS_CUI:C0012147 semapv:UnspecifiedMatching +DOID:9460 uterine corpus cancer oboInOwl:hasDbXref UMLS_CUI:C0153574 semapv:UnspecifiedMatching DOID:9460 uterine corpus cancer oboInOwl:hasDbXref ICD10CM:C54 semapv:UnspecifiedMatching DOID:9460 uterine corpus cancer oboInOwl:hasDbXref ICD9CM:182 semapv:UnspecifiedMatching DOID:9460 uterine corpus cancer oboInOwl:hasDbXref NCI:C3556 semapv:UnspecifiedMatching -DOID:9460 uterine corpus cancer oboInOwl:hasDbXref UMLS_CUI:C0153574 semapv:UnspecifiedMatching +DOID:9461 exposure keratitis oboInOwl:hasDbXref UMLS_CUI:C0339295 semapv:UnspecifiedMatching DOID:9461 exposure keratitis oboInOwl:hasDbXref ICD10CM:H16.21 semapv:UnspecifiedMatching DOID:9461 exposure keratitis oboInOwl:hasDbXref ICD9CM:370.34 semapv:UnspecifiedMatching -DOID:9461 exposure keratitis oboInOwl:hasDbXref UMLS_CUI:C0339295 semapv:UnspecifiedMatching DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref ICD10CM:H60.4 semapv:UnspecifiedMatching DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref ICD9CM:380.21 semapv:UnspecifiedMatching DOID:9462 cholesteatoma of external ear oboInOwl:hasDbXref UMLS_CUI:C0155398 semapv:UnspecifiedMatching -DOID:9463 otitis externa oboInOwl:hasDbXref UMLS_CUI:C0021355 semapv:UnspecifiedMatching DOID:9463 otitis externa oboInOwl:hasDbXref ICD9CM:380.1 semapv:UnspecifiedMatching DOID:9463 otitis externa oboInOwl:hasDbXref NCI:C3299 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref GARD:7160 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MEDDRA:10063431 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref NCI:C75120 semapv:UnspecifiedMatching +DOID:9463 otitis externa oboInOwl:hasDbXref UMLS_CUI:C0021355 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref UMLS_CUI:C0027341 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref OMIM:161200 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref NCI:C75120 semapv:UnspecifiedMatching DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ORDO:2614 semapv:UnspecifiedMatching -DOID:9467 nail-patella syndrome oboInOwl:hasDbXref UMLS_CUI:C0027341 semapv:UnspecifiedMatching -DOID:9470 bacterial meningitis oboInOwl:hasDbXref NCI:C118297 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MEDDRA:10063431 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref ICD10CM:Q87.2 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref GARD:7160 semapv:UnspecifiedMatching +DOID:9467 nail-patella syndrome oboInOwl:hasDbXref MESH:D009261 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref UMLS_CUI:C0085437 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref MESH:D016920 semapv:UnspecifiedMatching -DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD9CM:320 semapv:UnspecifiedMatching +DOID:9470 bacterial meningitis oboInOwl:hasDbXref NCI:C118297 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD10CM:G00 semapv:UnspecifiedMatching DOID:9470 bacterial meningitis oboInOwl:hasDbXref GARD:5881 semapv:UnspecifiedMatching +DOID:9470 bacterial meningitis oboInOwl:hasDbXref ICD9CM:320 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref ICD10CM:G03 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref ICD9CM:322.9 semapv:UnspecifiedMatching DOID:9471 meningitis oboInOwl:hasDbXref MESH:D008581 semapv:UnspecifiedMatching @@ -31628,10 +31654,10 @@ DOID:9476 Sheehan syndrome oboInOwl:hasDbXref MESH:D007018 semapv:UnspecifiedMat DOID:9476 Sheehan syndrome oboInOwl:hasDbXref UMLS_CUI:C0242342 semapv:UnspecifiedMatching DOID:9476 Sheehan syndrome oboInOwl:hasDbXref GARD:7630 semapv:UnspecifiedMatching DOID:9476 Sheehan syndrome oboInOwl:hasDbXref ICD10CM:E23.0 semapv:UnspecifiedMatching -DOID:9477 pulmonary embolism oboInOwl:hasDbXref UMLS_CUI:C0034065 semapv:UnspecifiedMatching -DOID:9477 pulmonary embolism oboInOwl:hasDbXref NCI:C50713 semapv:UnspecifiedMatching DOID:9477 pulmonary embolism oboInOwl:hasDbXref ICD10CM:I26 semapv:UnspecifiedMatching DOID:9477 pulmonary embolism oboInOwl:hasDbXref MESH:D011655 semapv:UnspecifiedMatching +DOID:9477 pulmonary embolism oboInOwl:hasDbXref NCI:C50713 semapv:UnspecifiedMatching +DOID:9477 pulmonary embolism oboInOwl:hasDbXref UMLS_CUI:C0034065 semapv:UnspecifiedMatching DOID:9478 postpartum depression oboInOwl:hasDbXref ICD10CM:F53.0 semapv:UnspecifiedMatching DOID:9478 postpartum depression oboInOwl:hasDbXref MESH:D019052 semapv:UnspecifiedMatching DOID:9478 postpartum depression oboInOwl:hasDbXref NCI:C92852 semapv:UnspecifiedMatching @@ -31639,26 +31665,26 @@ DOID:9478 postpartum depression oboInOwl:hasDbXref UMLS_CUI:C0221074 semapv:Unsp DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref ICD10CM:H01.01 semapv:UnspecifiedMatching DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref ICD9CM:373.01 semapv:UnspecifiedMatching DOID:9483 ulcerative blepharitis oboInOwl:hasDbXref UMLS_CUI:C0155173 semapv:UnspecifiedMatching +DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref UMLS_CUI:C0025037 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref NCI:C12264 semapv:UnspecifiedMatching -DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD10CM:Q43.0 semapv:UnspecifiedMatching +DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref OMIM:155140 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD9CM:751.0 semapv:UnspecifiedMatching +DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref ICD10CM:Q43.0 semapv:UnspecifiedMatching DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref MESH:D008467 semapv:UnspecifiedMatching -DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref OMIM:155140 semapv:UnspecifiedMatching -DOID:9487 Meckel's diverticulum oboInOwl:hasDbXref UMLS_CUI:C0025037 semapv:UnspecifiedMatching -DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0155224 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.02 semapv:UnspecifiedMatching DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.02 semapv:UnspecifiedMatching +DOID:949 chronic dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0155224 semapv:UnspecifiedMatching DOID:9496 unilateral hypoactive labyrinth oboInOwl:hasDbXref ICD9CM:386.53 semapv:UnspecifiedMatching DOID:9496 unilateral hypoactive labyrinth oboInOwl:hasDbXref UMLS_CUI:C0155517 semapv:UnspecifiedMatching -DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref ICD9CM:518.3 semapv:UnspecifiedMatching -DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref MESH:D011657 semapv:UnspecifiedMatching DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref UMLS_CUI:C0034068 semapv:UnspecifiedMatching +DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref MESH:D011657 semapv:UnspecifiedMatching +DOID:9498 pulmonary eosinophilia oboInOwl:hasDbXref ICD9CM:518.3 semapv:UnspecifiedMatching DOID:9499 disseminated eosinophilic collagen disease oboInOwl:hasDbXref UMLS_CUI:C0263662 semapv:UnspecifiedMatching -DOID:950 dacryoadenitis oboInOwl:hasDbXref NCI:C26971 semapv:UnspecifiedMatching -DOID:950 dacryoadenitis oboInOwl:hasDbXref MESH:D003607 semapv:UnspecifiedMatching -DOID:950 dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0155223 semapv:UnspecifiedMatching DOID:950 dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.0 semapv:UnspecifiedMatching DOID:950 dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.0 semapv:UnspecifiedMatching +DOID:950 dacryoadenitis oboInOwl:hasDbXref MESH:D003607 semapv:UnspecifiedMatching +DOID:950 dacryoadenitis oboInOwl:hasDbXref NCI:C26971 semapv:UnspecifiedMatching +DOID:950 dacryoadenitis oboInOwl:hasDbXref UMLS_CUI:C0155223 semapv:UnspecifiedMatching DOID:9500 leukocyte disease oboInOwl:hasDbXref UMLS_CUI:C0023510 semapv:UnspecifiedMatching DOID:9500 leukocyte disease oboInOwl:hasDbXref MESH:D007960 semapv:UnspecifiedMatching DOID:9500 leukocyte disease oboInOwl:hasDbXref ICD10CM:D72.9 semapv:UnspecifiedMatching @@ -31674,28 +31700,28 @@ DOID:9503 Loeffler syndrome oboInOwl:hasDbXref NCI:C35301 semapv:UnspecifiedMatc DOID:9503 Loeffler syndrome oboInOwl:hasDbXref UMLS_CUI:C0242459 semapv:UnspecifiedMatching DOID:9504 benign mammary dysplasia oboInOwl:hasDbXref ICD9CM:610.8 semapv:UnspecifiedMatching DOID:9504 benign mammary dysplasia oboInOwl:hasDbXref UMLS_CUI:C0156319 semapv:UnspecifiedMatching +DOID:9505 cannabis abuse oboInOwl:hasDbXref MESH:D002189 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref UMLS_CUI:C0024809 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref UMLS_CUI:C0006868 semapv:UnspecifiedMatching -DOID:9505 cannabis abuse oboInOwl:hasDbXref MESH:D002189 semapv:UnspecifiedMatching -DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD10CM:F12 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD10CM:F12.1 semapv:UnspecifiedMatching +DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD10CM:F12 semapv:UnspecifiedMatching DOID:9505 cannabis abuse oboInOwl:hasDbXref ICD9CM:305.2 semapv:UnspecifiedMatching -DOID:9506 acute ethmoiditis oboInOwl:hasDbXref UMLS_CUI:C0155806 semapv:UnspecifiedMatching DOID:9506 acute ethmoiditis oboInOwl:hasDbXref ICD10CM:J01.2 semapv:UnspecifiedMatching DOID:9506 acute ethmoiditis oboInOwl:hasDbXref ICD9CM:461.2 semapv:UnspecifiedMatching +DOID:9506 acute ethmoiditis oboInOwl:hasDbXref UMLS_CUI:C0155806 semapv:UnspecifiedMatching +DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref ICD10CM:J32.2 semapv:UnspecifiedMatching DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref MESH:D015521 semapv:UnspecifiedMatching DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref NCI:C34597 semapv:UnspecifiedMatching -DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref ICD10CM:J32.2 semapv:UnspecifiedMatching DOID:9507 ethmoid sinusitis oboInOwl:hasDbXref UMLS_CUI:C0015029 semapv:UnspecifiedMatching DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref ICD9CM:372.11 semapv:UnspecifiedMatching DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.42 semapv:UnspecifiedMatching DOID:9512 simple chronic conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155146 semapv:UnspecifiedMatching +DOID:9513 plasma cell leukemia oboInOwl:hasDbXref NCI:C3180 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref UMLS_CUI:C0023484 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref MESH:D007952 semapv:UnspecifiedMatching -DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICDO:9733/3 semapv:UnspecifiedMatching -DOID:9513 plasma cell leukemia oboInOwl:hasDbXref NCI:C3180 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICD10CM:C90.1 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICD9CM:203.1 semapv:UnspecifiedMatching +DOID:9513 plasma cell leukemia oboInOwl:hasDbXref ICDO:9733/3 semapv:UnspecifiedMatching DOID:9513 plasma cell leukemia oboInOwl:hasDbXref GARD:9373 semapv:UnspecifiedMatching DOID:952 acute dacryoadenitis oboInOwl:hasDbXref ICD10CM:H04.01 semapv:UnspecifiedMatching DOID:952 acute dacryoadenitis oboInOwl:hasDbXref ICD9CM:375.01 semapv:UnspecifiedMatching @@ -31820,174 +31846,174 @@ DOID:960 esophagus leiomyoma oboInOwl:hasDbXref UMLS_CUI:C0238114 semapv:Unspeci DOID:9600 plantar fasciitis oboInOwl:hasDbXref MESH:D036981 semapv:UnspecifiedMatching DOID:9600 plantar fasciitis oboInOwl:hasDbXref ICD10CM:M72.2 semapv:UnspecifiedMatching DOID:9600 plantar fasciitis oboInOwl:hasDbXref UMLS_CUI:C0149756 semapv:UnspecifiedMatching -DOID:9601 ischemic fasciitis oboInOwl:hasDbXref NCI:C6483 semapv:UnspecifiedMatching DOID:9601 ischemic fasciitis oboInOwl:hasDbXref UMLS_CUI:C1304514 semapv:UnspecifiedMatching -DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref NCI:C84916 semapv:UnspecifiedMatching -DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref UMLS_CUI:C0238124 semapv:UnspecifiedMatching -DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref ICD9CM:728.86 semapv:UnspecifiedMatching +DOID:9601 ischemic fasciitis oboInOwl:hasDbXref NCI:C6483 semapv:UnspecifiedMatching +DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref GARD:6454 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref ICD10CM:M72.6 semapv:UnspecifiedMatching +DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref ICD9CM:728.86 semapv:UnspecifiedMatching DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref MESH:D019115 semapv:UnspecifiedMatching -DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref GARD:6454 semapv:UnspecifiedMatching +DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref NCI:C84916 semapv:UnspecifiedMatching +DOID:9602 necrotizing fasciitis oboInOwl:hasDbXref UMLS_CUI:C0238124 semapv:UnspecifiedMatching DOID:9603 intravascular fasciitis oboInOwl:hasDbXref NCI:C4729 semapv:UnspecifiedMatching DOID:9603 intravascular fasciitis oboInOwl:hasDbXref UMLS_CUI:C0432529 semapv:UnspecifiedMatching DOID:961 neurofibroma of the esophagus oboInOwl:hasDbXref NCI:C5704 semapv:UnspecifiedMatching DOID:961 neurofibroma of the esophagus oboInOwl:hasDbXref UMLS_CUI:C1333463 semapv:UnspecifiedMatching -DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref ICD10CM:R80.2 semapv:UnspecifiedMatching -DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref ICD9CM:593.6 semapv:UnspecifiedMatching DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref UMLS_CUI:C0232867 semapv:UnspecifiedMatching -DOID:962 neurofibroma oboInOwl:hasDbXref UMLS_CUI:C0027830 semapv:UnspecifiedMatching -DOID:962 neurofibroma oboInOwl:hasDbXref NCI:C3272 semapv:UnspecifiedMatching -DOID:962 neurofibroma oboInOwl:hasDbXref ICDO:9540/0 semapv:UnspecifiedMatching +DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref ICD9CM:593.6 semapv:UnspecifiedMatching +DOID:9617 orthostatic proteinuria oboInOwl:hasDbXref ICD10CM:R80.2 semapv:UnspecifiedMatching DOID:962 neurofibroma oboInOwl:hasDbXref GARD:7191 semapv:UnspecifiedMatching +DOID:962 neurofibroma oboInOwl:hasDbXref ICDO:9540/0 semapv:UnspecifiedMatching DOID:962 neurofibroma oboInOwl:hasDbXref MESH:D009455 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614318 semapv:UnspecifiedMatching +DOID:962 neurofibroma oboInOwl:hasDbXref NCI:C3272 semapv:UnspecifiedMatching +DOID:962 neurofibroma oboInOwl:hasDbXref UMLS_CUI:C0027830 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref UMLS_CUI:C0042580 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ORDO:289365 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:615963 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:615390 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614674 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614319 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614318 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614317 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD9CM:593.7 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:614674 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:610878 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:314550 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:193000 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref NCI:C84467 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref MESH:D014718 semapv:UnspecifiedMatching -DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref UMLS_CUI:C0042580 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD10CM:N13.7 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref ICD9CM:593.7 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref MESH:D014718 semapv:UnspecifiedMatching DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:613674 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:193000 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref OMIM:314550 semapv:UnspecifiedMatching +DOID:9620 vesicoureteral reflux oboInOwl:hasDbXref NCI:C84467 semapv:UnspecifiedMatching +DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref ICD9CM:593.2 semapv:UnspecifiedMatching DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref UMLS_CUI:C0268799 semapv:UnspecifiedMatching DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref ICD10CM:N28.1 semapv:UnspecifiedMatching -DOID:9621 non-congenital cyst of kidney oboInOwl:hasDbXref ICD9CM:593.2 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref ICD10CM:N28.81 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref ICD9CM:593.1 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref NCI:C122991 semapv:UnspecifiedMatching DOID:9622 kidney hypertrophy oboInOwl:hasDbXref UMLS_CUI:C0156259 semapv:UnspecifiedMatching -DOID:963 episodic ataxia oboInOwl:hasDbXref GARD:9851 semapv:UnspecifiedMatching -DOID:963 episodic ataxia oboInOwl:hasDbXref MESH:C580065 semapv:UnspecifiedMatching -DOID:963 episodic ataxia oboInOwl:hasDbXref ORDO:211062 semapv:UnspecifiedMatching DOID:963 episodic ataxia oboInOwl:hasDbXref UMLS_CUI:C1720189 semapv:UnspecifiedMatching -DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref UMLS_CUI:C0030779 semapv:UnspecifiedMatching +DOID:963 episodic ataxia oboInOwl:hasDbXref ORDO:211062 semapv:UnspecifiedMatching +DOID:963 episodic ataxia oboInOwl:hasDbXref MESH:C580065 semapv:UnspecifiedMatching +DOID:963 episodic ataxia oboInOwl:hasDbXref GARD:9851 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref GARD:9148 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref MESH:D010381 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref NCI:C85002 semapv:UnspecifiedMatching DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref OMIM:169400 semapv:UnspecifiedMatching -DOID:9637 stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038362 semapv:UnspecifiedMatching -DOID:9637 stomatitis oboInOwl:hasDbXref NCI:C26887 semapv:UnspecifiedMatching +DOID:9631 Pelger-Huet anomaly oboInOwl:hasDbXref UMLS_CUI:C0030779 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:9637 stomatitis oboInOwl:hasDbXref MESH:D013280 semapv:UnspecifiedMatching +DOID:9637 stomatitis oboInOwl:hasDbXref NCI:C26887 semapv:UnspecifiedMatching +DOID:9637 stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038362 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref ICD10CM:A07.8 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref ICD9CM:136.5 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref MESH:D012523 semapv:UnspecifiedMatching DOID:9640 sarcocystosis oboInOwl:hasDbXref UMLS_CUI:C0036231 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref NCI:C84581 semapv:UnspecifiedMatching -DOID:9643 babesiosis oboInOwl:hasDbXref GARD:5878 semapv:UnspecifiedMatching -DOID:9643 babesiosis oboInOwl:hasDbXref ICD10CM:B60.0 semapv:UnspecifiedMatching -DOID:9643 babesiosis oboInOwl:hasDbXref ICD9CM:088.82 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref MESH:D001404 semapv:UnspecifiedMatching DOID:9643 babesiosis oboInOwl:hasDbXref UMLS_CUI:C0004576 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus oboInOwl:hasDbXref UMLS_CUI:C0700501 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus oboInOwl:hasDbXref OMIMPS:310700 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus oboInOwl:hasDbXref ORDO:651 semapv:UnspecifiedMatching -DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD9CM:379.51 semapv:UnspecifiedMatching +DOID:9643 babesiosis oboInOwl:hasDbXref ICD10CM:B60.0 semapv:UnspecifiedMatching +DOID:9643 babesiosis oboInOwl:hasDbXref ICD9CM:088.82 semapv:UnspecifiedMatching +DOID:9643 babesiosis oboInOwl:hasDbXref GARD:5878 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD10CM:H55.01 semapv:UnspecifiedMatching +DOID:9649 congenital nystagmus oboInOwl:hasDbXref ICD9CM:379.51 semapv:UnspecifiedMatching DOID:9649 congenital nystagmus oboInOwl:hasDbXref MESH:D020417 semapv:UnspecifiedMatching +DOID:9649 congenital nystagmus oboInOwl:hasDbXref OMIMPS:310700 semapv:UnspecifiedMatching +DOID:9649 congenital nystagmus oboInOwl:hasDbXref ORDO:651 semapv:UnspecifiedMatching +DOID:9649 congenital nystagmus oboInOwl:hasDbXref UMLS_CUI:C0700501 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref ICD10CM:H55.0 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref ICD9CM:379.50 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref MESH:D009759 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref NCI:C3282 semapv:UnspecifiedMatching DOID:9650 pathologic nystagmus oboInOwl:hasDbXref UMLS_CUI:C0028738 semapv:UnspecifiedMatching -DOID:9651 systolic heart failure oboInOwl:hasDbXref ICD10CM:I50.20 semapv:UnspecifiedMatching -DOID:9651 systolic heart failure oboInOwl:hasDbXref ICD9CM:428.2 semapv:UnspecifiedMatching DOID:9651 systolic heart failure oboInOwl:hasDbXref MESH:D054143 semapv:UnspecifiedMatching DOID:9651 systolic heart failure oboInOwl:hasDbXref UMLS_CUI:C1135191 semapv:UnspecifiedMatching +DOID:9651 systolic heart failure oboInOwl:hasDbXref ICD9CM:428.2 semapv:UnspecifiedMatching +DOID:9651 systolic heart failure oboInOwl:hasDbXref ICD10CM:I50.20 semapv:UnspecifiedMatching DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref ICD10CM:K13.21 semapv:UnspecifiedMatching DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref ICD9CM:528.6 semapv:UnspecifiedMatching DOID:9655 oral mucosa leukoplakia oboInOwl:hasDbXref UMLS_CUI:C1112530 semapv:UnspecifiedMatching -DOID:9663 aphthous stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038363 semapv:UnspecifiedMatching -DOID:9663 aphthous stomatitis oboInOwl:hasDbXref NCI:C62546 semapv:UnspecifiedMatching +DOID:9663 aphthous stomatitis oboInOwl:hasDbXref GARD:5834 semapv:UnspecifiedMatching DOID:9663 aphthous stomatitis oboInOwl:hasDbXref ICD9CM:528.2 semapv:UnspecifiedMatching DOID:9663 aphthous stomatitis oboInOwl:hasDbXref MESH:D013281 semapv:UnspecifiedMatching -DOID:9663 aphthous stomatitis oboInOwl:hasDbXref GARD:5834 semapv:UnspecifiedMatching +DOID:9663 aphthous stomatitis oboInOwl:hasDbXref NCI:C62546 semapv:UnspecifiedMatching +DOID:9663 aphthous stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038363 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref ICD10CM:O20.0 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref ICD9CM:640.0 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref MESH:D000033 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref NCI:C112857 semapv:UnspecifiedMatching DOID:9667 placental abruption oboInOwl:hasDbXref UMLS_CUI:C0000821 semapv:UnspecifiedMatching +DOID:9669 senile cataract oboInOwl:hasDbXref UMLS_CUI:C0036646 semapv:UnspecifiedMatching +DOID:9669 senile cataract oboInOwl:hasDbXref NCI:C35012 semapv:UnspecifiedMatching DOID:9669 senile cataract oboInOwl:hasDbXref ICD10CM:H25 semapv:UnspecifiedMatching DOID:9669 senile cataract oboInOwl:hasDbXref ICD9CM:366.1 semapv:UnspecifiedMatching -DOID:9669 senile cataract oboInOwl:hasDbXref NCI:C35012 semapv:UnspecifiedMatching -DOID:9669 senile cataract oboInOwl:hasDbXref UMLS_CUI:C0036646 semapv:UnspecifiedMatching -DOID:9672 noma oboInOwl:hasDbXref UMLS_CUI:C0028271 semapv:UnspecifiedMatching -DOID:9672 noma oboInOwl:hasDbXref NCI:C34852 semapv:UnspecifiedMatching -DOID:9672 noma oboInOwl:hasDbXref MESH:D009625 semapv:UnspecifiedMatching -DOID:9672 noma oboInOwl:hasDbXref ICD10CM:A69.0 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref GARD:4001 semapv:UnspecifiedMatching +DOID:9672 noma oboInOwl:hasDbXref ICD10CM:A69.0 semapv:UnspecifiedMatching DOID:9672 noma oboInOwl:hasDbXref ICD9CM:528.1 semapv:UnspecifiedMatching +DOID:9672 noma oboInOwl:hasDbXref MESH:D009625 semapv:UnspecifiedMatching +DOID:9672 noma oboInOwl:hasDbXref NCI:C34852 semapv:UnspecifiedMatching +DOID:9672 noma oboInOwl:hasDbXref UMLS_CUI:C0028271 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref ICD10CM:K12.1 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref MESH:D005892 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref NCI:C35039 semapv:UnspecifiedMatching DOID:9673 ulcerative stomatitis oboInOwl:hasDbXref UMLS_CUI:C0038367 semapv:UnspecifiedMatching -DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD10CM:J43.8 semapv:UnspecifiedMatching -DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD9CM:492.8 semapv:UnspecifiedMatching -DOID:9675 pulmonary emphysema oboInOwl:hasDbXref OMIM:130700 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema oboInOwl:hasDbXref UMLS_CUI:C0029607 semapv:UnspecifiedMatching +DOID:9675 pulmonary emphysema oboInOwl:hasDbXref OMIM:130700 semapv:UnspecifiedMatching DOID:9675 pulmonary emphysema skos:exactMatch MESH:D011656 semapv:UnspecifiedMatching -DOID:9681 cervical incompetence oboInOwl:hasDbXref NCI:C50607 semapv:UnspecifiedMatching -DOID:9681 cervical incompetence oboInOwl:hasDbXref MESH:D002581 semapv:UnspecifiedMatching -DOID:9681 cervical incompetence oboInOwl:hasDbXref UMLS_CUI:C0007871 semapv:UnspecifiedMatching +DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD10CM:J43.8 semapv:UnspecifiedMatching +DOID:9675 pulmonary emphysema oboInOwl:hasDbXref ICD9CM:492.8 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref ICD10CM:N88.3 semapv:UnspecifiedMatching DOID:9681 cervical incompetence oboInOwl:hasDbXref ICD9CM:622.5 semapv:UnspecifiedMatching +DOID:9681 cervical incompetence oboInOwl:hasDbXref MESH:D002581 semapv:UnspecifiedMatching +DOID:9681 cervical incompetence oboInOwl:hasDbXref NCI:C50607 semapv:UnspecifiedMatching +DOID:9681 cervical incompetence oboInOwl:hasDbXref UMLS_CUI:C0007871 semapv:UnspecifiedMatching +DOID:9682 yellow fever oboInOwl:hasDbXref UMLS_CUI:C0043395 semapv:UnspecifiedMatching +DOID:9682 yellow fever oboInOwl:hasDbXref NCI:C35547 semapv:UnspecifiedMatching +DOID:9682 yellow fever oboInOwl:hasDbXref MESH:D015004 semapv:UnspecifiedMatching +DOID:9682 yellow fever oboInOwl:hasDbXref ICD9CM:060 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref GARD:7914 semapv:UnspecifiedMatching DOID:9682 yellow fever oboInOwl:hasDbXref ICD10CM:A95 semapv:UnspecifiedMatching -DOID:9682 yellow fever oboInOwl:hasDbXref ICD9CM:060 semapv:UnspecifiedMatching -DOID:9682 yellow fever oboInOwl:hasDbXref MESH:D015004 semapv:UnspecifiedMatching -DOID:9682 yellow fever oboInOwl:hasDbXref NCI:C35547 semapv:UnspecifiedMatching -DOID:9682 yellow fever oboInOwl:hasDbXref UMLS_CUI:C0043395 semapv:UnspecifiedMatching -DOID:9694 toxic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155691 semapv:UnspecifiedMatching DOID:9694 toxic myocarditis oboInOwl:hasDbXref ICD9CM:422.93 semapv:UnspecifiedMatching +DOID:9694 toxic myocarditis oboInOwl:hasDbXref UMLS_CUI:C0155691 semapv:UnspecifiedMatching +DOID:9697 gonococcal keratitis oboInOwl:hasDbXref UMLS_CUI:C0153214 semapv:UnspecifiedMatching DOID:9697 gonococcal keratitis oboInOwl:hasDbXref ICD10CM:A54.33 semapv:UnspecifiedMatching DOID:9697 gonococcal keratitis oboInOwl:hasDbXref ICD9CM:098.43 semapv:UnspecifiedMatching -DOID:9697 gonococcal keratitis oboInOwl:hasDbXref UMLS_CUI:C0153214 semapv:UnspecifiedMatching +DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref UMLS_CUI:C0153213 semapv:UnspecifiedMatching DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref ICD10CM:A54.39 semapv:UnspecifiedMatching DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref ICD9CM:098.42 semapv:UnspecifiedMatching -DOID:9698 gonococcal endophthalmia oboInOwl:hasDbXref UMLS_CUI:C0153213 semapv:UnspecifiedMatching -DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0027611 semapv:UnspecifiedMatching -DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0029076 semapv:UnspecifiedMatching -DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref NCI:C116815 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref GARD:2546 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref ICD10CM:P39.1 semapv:UnspecifiedMatching DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref ICD9CM:771.6 semapv:UnspecifiedMatching +DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref NCI:C116815 semapv:UnspecifiedMatching +DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0027611 semapv:UnspecifiedMatching +DOID:9699 ophthalmia neonatorum oboInOwl:hasDbXref UMLS_CUI:C0029076 semapv:UnspecifiedMatching DOID:970 tenosynovitis oboInOwl:hasDbXref MESH:D013717 semapv:UnspecifiedMatching DOID:970 tenosynovitis oboInOwl:hasDbXref UMLS_CUI:C0039520 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.0 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref MESH:D003234 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref NCI:C53656 semapv:UnspecifiedMatching DOID:9700 bacterial conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0009768 semapv:UnspecifiedMatching -DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.82 semapv:UnspecifiedMatching DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref ICD9CM:372.31 semapv:UnspecifiedMatching DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref UMLS_CUI:C0155152 semapv:UnspecifiedMatching +DOID:9709 rosacea conjunctivitis oboInOwl:hasDbXref ICD10CM:H10.82 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref ICD10CM:M77.9 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref MESH:D052256 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref NCI:C97141 semapv:UnspecifiedMatching DOID:971 tendinitis oboInOwl:hasDbXref UMLS_CUI:C0039503 semapv:UnspecifiedMatching DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref UMLS_CUI:C0156214 semapv:UnspecifiedMatching -DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref NCI:C78308 semapv:UnspecifiedMatching DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref ICD10CM:K82.0 semapv:UnspecifiedMatching DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref ICD9CM:575.2 semapv:UnspecifiedMatching +DOID:9714 occlusion of gallbladder oboInOwl:hasDbXref NCI:C78308 semapv:UnspecifiedMatching DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref ICD10CM:K82.1 semapv:UnspecifiedMatching DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref ICD9CM:575.3 semapv:UnspecifiedMatching DOID:9717 hydrops of gallbladder oboInOwl:hasDbXref UMLS_CUI:C0152445 semapv:UnspecifiedMatching -DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref MESH:D018630 semapv:UnspecifiedMatching -DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref ORDO:329211 semapv:UnspecifiedMatching DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref UMLS_CUI:C0242852 semapv:UnspecifiedMatching -DOID:9720 vitreous disease oboInOwl:hasDbXref ICD9CM:379.24 semapv:UnspecifiedMatching -DOID:9720 vitreous disease oboInOwl:hasDbXref ICD10CM:H43.39 semapv:UnspecifiedMatching +DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref MESH:D018630 semapv:UnspecifiedMatching +DOID:9719 neovascular inflammatory vitreoretinopathy oboInOwl:hasDbXref OMIM:193235 semapv:UnspecifiedMatching DOID:9720 vitreous disease oboInOwl:hasDbXref UMLS_CUI:C0029872 semapv:UnspecifiedMatching -DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref UMLS_CUI:C0154775 semapv:UnspecifiedMatching -DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref ICD9CM:360.14 semapv:UnspecifiedMatching +DOID:9720 vitreous disease oboInOwl:hasDbXref ICD10CM:H43.39 semapv:UnspecifiedMatching +DOID:9720 vitreous disease oboInOwl:hasDbXref ICD9CM:379.24 semapv:UnspecifiedMatching DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref ICD10CM:H16.24 semapv:UnspecifiedMatching +DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref ICD9CM:360.14 semapv:UnspecifiedMatching +DOID:9722 ophthalmia nodosa oboInOwl:hasDbXref UMLS_CUI:C0154775 semapv:UnspecifiedMatching DOID:9723 vitreous abscess oboInOwl:hasDbXref ICD9CM:360.04 semapv:UnspecifiedMatching DOID:9723 vitreous abscess oboInOwl:hasDbXref UMLS_CUI:C0042904 semapv:UnspecifiedMatching DOID:9724 purulent endophthalmitis oboInOwl:hasDbXref ICD10CM:H44.0 semapv:UnspecifiedMatching @@ -31997,12 +32023,12 @@ DOID:9726 vitreous detachment oboInOwl:hasDbXref ICD10CM:H43.81 semapv:Unspecifi DOID:9726 vitreous detachment oboInOwl:hasDbXref MESH:D020255 semapv:UnspecifiedMatching DOID:9726 vitreous detachment oboInOwl:hasDbXref NCI:C50807 semapv:UnspecifiedMatching DOID:9726 vitreous detachment oboInOwl:hasDbXref UMLS_CUI:C0042907 semapv:UnspecifiedMatching -DOID:9733 renal tuberculosis oboInOwl:hasDbXref ICD9CM:016.0 semapv:UnspecifiedMatching -DOID:9733 renal tuberculosis oboInOwl:hasDbXref MESH:D014398 semapv:UnspecifiedMatching DOID:9733 renal tuberculosis oboInOwl:hasDbXref NCI:C123020 semapv:UnspecifiedMatching DOID:9733 renal tuberculosis oboInOwl:hasDbXref UMLS_CUI:C0041328 semapv:UnspecifiedMatching -DOID:9735 acute allergic mucoid otitis media oboInOwl:hasDbXref UMLS_CUI:C0155419 semapv:UnspecifiedMatching +DOID:9733 renal tuberculosis oboInOwl:hasDbXref MESH:D014398 semapv:UnspecifiedMatching +DOID:9733 renal tuberculosis oboInOwl:hasDbXref ICD9CM:016.0 semapv:UnspecifiedMatching DOID:9735 acute allergic mucoid otitis media oboInOwl:hasDbXref ICD9CM:381.05 semapv:UnspecifiedMatching +DOID:9735 acute allergic mucoid otitis media oboInOwl:hasDbXref UMLS_CUI:C0155419 semapv:UnspecifiedMatching DOID:9736 blue drum syndrome oboInOwl:hasDbXref ICD9CM:381.02 semapv:UnspecifiedMatching DOID:9736 blue drum syndrome oboInOwl:hasDbXref UMLS_CUI:C0395863 semapv:UnspecifiedMatching DOID:9739 eustachian tube disease oboInOwl:hasDbXref ICD9CM:381.8 semapv:UnspecifiedMatching @@ -32013,75 +32039,75 @@ DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref ICD10CM:K91.5 semapv:U DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref ICD9CM:576.0 semapv:UnspecifiedMatching DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref MESH:D017562 semapv:UnspecifiedMatching DOID:9740 postcholecystectomy syndrome oboInOwl:hasDbXref UMLS_CUI:C0152099 semapv:UnspecifiedMatching -DOID:9741 biliary tract disease oboInOwl:hasDbXref ICD10CM:K83.9 semapv:UnspecifiedMatching +DOID:9741 biliary tract disease oboInOwl:hasDbXref UMLS_CUI:C0005424 semapv:UnspecifiedMatching DOID:9741 biliary tract disease oboInOwl:hasDbXref ICD9CM:576.9 semapv:UnspecifiedMatching +DOID:9741 biliary tract disease oboInOwl:hasDbXref ICD10CM:K83.9 semapv:UnspecifiedMatching DOID:9741 biliary tract disease oboInOwl:hasDbXref MESH:D001660 semapv:UnspecifiedMatching -DOID:9741 biliary tract disease oboInOwl:hasDbXref UMLS_CUI:C0005424 semapv:UnspecifiedMatching -DOID:9742 pelvic varices oboInOwl:hasDbXref UMLS_CUI:C0155795 semapv:UnspecifiedMatching DOID:9742 pelvic varices oboInOwl:hasDbXref ICD10CM:I86.2 semapv:UnspecifiedMatching DOID:9742 pelvic varices oboInOwl:hasDbXref ICD9CM:456.5 semapv:UnspecifiedMatching +DOID:9742 pelvic varices oboInOwl:hasDbXref UMLS_CUI:C0155795 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref ICD9CM:250.6 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref MESH:D003929 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref NCI:C26748 semapv:UnspecifiedMatching DOID:9743 diabetic neuropathy oboInOwl:hasDbXref UMLS_CUI:C0011882 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref EFO:0001359 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref GARD:10268 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref KEGG:04940 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref MESH:D003922 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011854 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref NCI:C2986 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref MESH:D003922 semapv:UnspecifiedMatching DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref OMIM:222100 semapv:UnspecifiedMatching -DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref UMLS_CUI:C0011854 semapv:UnspecifiedMatching -DOID:9745 perianal hematoma oboInOwl:hasDbXref UMLS_CUI:C0155784 semapv:UnspecifiedMatching -DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD9CM:455.4 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref ICD10CM:E10 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref GARD:10268 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref EFO:0001359 semapv:UnspecifiedMatching +DOID:9744 type 1 diabetes mellitus oboInOwl:hasDbXref KEGG:04940 semapv:UnspecifiedMatching DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD10CM:K64.5 semapv:UnspecifiedMatching -DOID:9746 hemorrhoid oboInOwl:hasDbXref ICD10CM:K64 semapv:UnspecifiedMatching +DOID:9745 perianal hematoma oboInOwl:hasDbXref ICD9CM:455.4 semapv:UnspecifiedMatching +DOID:9745 perianal hematoma oboInOwl:hasDbXref UMLS_CUI:C0155784 semapv:UnspecifiedMatching +DOID:9746 hemorrhoid oboInOwl:hasDbXref UMLS_CUI:C0019112 semapv:UnspecifiedMatching +DOID:9746 hemorrhoid oboInOwl:hasDbXref NCI:C26792 semapv:UnspecifiedMatching DOID:9746 hemorrhoid oboInOwl:hasDbXref ICD9CM:455 semapv:UnspecifiedMatching +DOID:9746 hemorrhoid oboInOwl:hasDbXref ICD10CM:K64 semapv:UnspecifiedMatching DOID:9746 hemorrhoid oboInOwl:hasDbXref MESH:D006484 semapv:UnspecifiedMatching -DOID:9746 hemorrhoid oboInOwl:hasDbXref NCI:C26792 semapv:UnspecifiedMatching -DOID:9746 hemorrhoid oboInOwl:hasDbXref UMLS_CUI:C0019112 semapv:UnspecifiedMatching DOID:9749 internal hemorrhoid oboInOwl:hasDbXref ICD9CM:455.6 semapv:UnspecifiedMatching DOID:9749 internal hemorrhoid oboInOwl:hasDbXref UMLS_CUI:C0041844 semapv:UnspecifiedMatching -DOID:9754 ganglion or cyst of synovium/tendon/bursa oboInOwl:hasDbXref ICD9CM:727.49 semapv:UnspecifiedMatching DOID:9754 ganglion or cyst of synovium/tendon/bursa oboInOwl:hasDbXref UMLS_CUI:C0158336 semapv:UnspecifiedMatching +DOID:9754 ganglion or cyst of synovium/tendon/bursa oboInOwl:hasDbXref ICD9CM:727.49 semapv:UnspecifiedMatching +DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0521610 semapv:UnspecifiedMatching DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref MESH:D041882 semapv:UnspecifiedMatching DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref NCI:C35592 semapv:UnspecifiedMatching -DOID:9765 emphysematous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C0521610 semapv:UnspecifiedMatching -DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C1337035 semapv:UnspecifiedMatching -DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref NCI:C35792 semapv:UnspecifiedMatching DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref GARD:9451 semapv:UnspecifiedMatching DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref MESH:C536762 semapv:UnspecifiedMatching +DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref NCI:C35792 semapv:UnspecifiedMatching +DOID:9766 xanthogranulomatous cholecystitis oboInOwl:hasDbXref UMLS_CUI:C1337035 semapv:UnspecifiedMatching DOID:9767 myocardial stunning oboInOwl:hasDbXref MESH:D017682 semapv:UnspecifiedMatching DOID:9767 myocardial stunning oboInOwl:hasDbXref UMLS_CUI:C0206146 semapv:UnspecifiedMatching DOID:9768 heart aneurysm oboInOwl:hasDbXref ICD10CM:I25.3 semapv:UnspecifiedMatching DOID:9768 heart aneurysm oboInOwl:hasDbXref MESH:D006322 semapv:UnspecifiedMatching DOID:9768 heart aneurysm oboInOwl:hasDbXref UMLS_CUI:C0018789 semapv:UnspecifiedMatching -DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref ICD10CM:P61.0 semapv:UnspecifiedMatching DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref ICD9CM:776.1 semapv:UnspecifiedMatching +DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref ICD10CM:P61.0 semapv:UnspecifiedMatching DOID:9771 transient neonatal thrombocytopenia oboInOwl:hasDbXref UMLS_CUI:C0158991 semapv:UnspecifiedMatching DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref UMLS_CUI:C0153552 semapv:UnspecifiedMatching DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref ICD10CM:C50.41 semapv:UnspecifiedMatching DOID:9773 female breast upper-outer quadrant cancer oboInOwl:hasDbXref ICD9CM:174.4 semapv:UnspecifiedMatching -DOID:9775 diastolic heart failure oboInOwl:hasDbXref UMLS_CUI:C1135196 semapv:UnspecifiedMatching -DOID:9775 diastolic heart failure oboInOwl:hasDbXref MESH:D054144 semapv:UnspecifiedMatching -DOID:9775 diastolic heart failure oboInOwl:hasDbXref ICD9CM:428.3 semapv:UnspecifiedMatching DOID:9775 diastolic heart failure oboInOwl:hasDbXref ICD10CM:I50.30 semapv:UnspecifiedMatching +DOID:9775 diastolic heart failure oboInOwl:hasDbXref ICD9CM:428.3 semapv:UnspecifiedMatching +DOID:9775 diastolic heart failure oboInOwl:hasDbXref MESH:D054144 semapv:UnspecifiedMatching +DOID:9775 diastolic heart failure oboInOwl:hasDbXref UMLS_CUI:C1135196 semapv:UnspecifiedMatching DOID:9776 Senile atrophy of choroid oboInOwl:hasDbXref ICD9CM:363.41 semapv:UnspecifiedMatching DOID:9776 Senile atrophy of choroid oboInOwl:hasDbXref UMLS_CUI:C0154891 semapv:UnspecifiedMatching +DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref MESH:D043183 semapv:UnspecifiedMatching +DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref KEGG:05321 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref NCI:C82343 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref ICD10CM:K58 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref ICD9CM:564.1 semapv:UnspecifiedMatching -DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref KEGG:05321 semapv:UnspecifiedMatching -DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref MESH:D043183 semapv:UnspecifiedMatching DOID:9778 irritable bowel syndrome oboInOwl:hasDbXref UMLS_CUI:C0022104 semapv:UnspecifiedMatching DOID:9779 bowel dysfunction oboInOwl:hasDbXref ICD9CM:564.9 semapv:UnspecifiedMatching DOID:9779 bowel dysfunction oboInOwl:hasDbXref ICD10CM:K59.9 semapv:UnspecifiedMatching DOID:9779 bowel dysfunction oboInOwl:hasDbXref UMLS_CUI:C0016807 semapv:UnspecifiedMatching -DOID:9784 trichinosis oboInOwl:hasDbXref NCI:C85199 semapv:UnspecifiedMatching DOID:9784 trichinosis oboInOwl:hasDbXref UMLS_CUI:C0040896 semapv:UnspecifiedMatching -DOID:9784 trichinosis oboInOwl:hasDbXref MESH:D014235 semapv:UnspecifiedMatching -DOID:9784 trichinosis oboInOwl:hasDbXref ICD9CM:124 semapv:UnspecifiedMatching +DOID:9784 trichinosis oboInOwl:hasDbXref NCI:C85199 semapv:UnspecifiedMatching DOID:9784 trichinosis oboInOwl:hasDbXref ICD10CM:B75 semapv:UnspecifiedMatching +DOID:9784 trichinosis oboInOwl:hasDbXref ICD9CM:124 semapv:UnspecifiedMatching +DOID:9784 trichinosis oboInOwl:hasDbXref MESH:D014235 semapv:UnspecifiedMatching DOID:9786 bulbar polio oboInOwl:hasDbXref ICD9CM:045.0 semapv:UnspecifiedMatching DOID:9786 bulbar polio oboInOwl:hasDbXref MESH:D011052 semapv:UnspecifiedMatching DOID:9786 bulbar polio oboInOwl:hasDbXref UMLS_CUI:C0032372 semapv:UnspecifiedMatching @@ -32092,21 +32118,21 @@ DOID:9788 myositis fibrosa oboInOwl:hasDbXref UMLS_CUI:C0158362 semapv:Unspecifi DOID:979 angioid streaks of choroid oboInOwl:hasDbXref ICD9CM:363.43 semapv:UnspecifiedMatching DOID:979 angioid streaks of choroid oboInOwl:hasDbXref UMLS_CUI:C0002983 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref UMLS_CUI:C0023049 semapv:UnspecifiedMatching -DOID:9790 toxocariasis oboInOwl:hasDbXref MESH:D007816 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref NCI:C34758 semapv:UnspecifiedMatching -DOID:9790 toxocariasis oboInOwl:hasDbXref GARD:7788 semapv:UnspecifiedMatching +DOID:9790 toxocariasis oboInOwl:hasDbXref MESH:D007816 semapv:UnspecifiedMatching DOID:9790 toxocariasis oboInOwl:hasDbXref ICD10CM:B83.0 semapv:UnspecifiedMatching +DOID:9790 toxocariasis oboInOwl:hasDbXref GARD:7788 semapv:UnspecifiedMatching DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref ICD10CM:H31.2 semapv:UnspecifiedMatching DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref ICD9CM:363.5 semapv:UnspecifiedMatching DOID:9794 hereditary choroidal atrophy oboInOwl:hasDbXref UMLS_CUI:C0154893 semapv:UnspecifiedMatching DOID:9799 eye degenerative disease oboInOwl:hasDbXref ICD10CM:H44.5 semapv:UnspecifiedMatching DOID:9799 eye degenerative disease oboInOwl:hasDbXref ICD9CM:360.4 semapv:UnspecifiedMatching DOID:9799 eye degenerative disease oboInOwl:hasDbXref UMLS_CUI:C0154777 semapv:UnspecifiedMatching -DOID:980 choroidal sclerosis oboInOwl:hasDbXref UMLS_CUI:C0344297 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref ICD10CM:H31.10 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref ICD9CM:363.4 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref MESH:C535358 semapv:UnspecifiedMatching DOID:980 choroidal sclerosis oboInOwl:hasDbXref OMIM:215500 semapv:UnspecifiedMatching +DOID:980 choroidal sclerosis oboInOwl:hasDbXref UMLS_CUI:C0344297 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref MESH:D014395 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref UMLS_CUI:C0041325 semapv:UnspecifiedMatching DOID:9801 tuberculous peritonitis oboInOwl:hasDbXref ICD10CM:A18.31 semapv:UnspecifiedMatching @@ -32140,8 +32166,8 @@ DOID:9820 central gyrate choroidal dystrophy oboInOwl:hasDbXref UMLS_CUI:C015489 DOID:9821 choroideremia oboInOwl:hasDbXref ORDO:180 semapv:UnspecifiedMatching DOID:9821 choroideremia skos:exactMatch MESH:D015794 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref UMLS_CUI:C0008525 semapv:UnspecifiedMatching -DOID:9821 choroideremia oboInOwl:hasDbXref NCI:C34469 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref OMIM:303100 semapv:UnspecifiedMatching +DOID:9821 choroideremia oboInOwl:hasDbXref NCI:C34469 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref MESH:D015794 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref ICD9CM:363.55 semapv:UnspecifiedMatching DOID:9821 choroideremia oboInOwl:hasDbXref ICD10CM:H31.21 semapv:UnspecifiedMatching @@ -32157,10 +32183,10 @@ DOID:9827 radioulnar synostosis oboInOwl:hasDbXref UMLS_CUI:C0158761 semapv:Unsp DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref UMLS_CUI:C1332133 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref UMLS_CUI:C0027609 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref NCI:C87101 semapv:UnspecifiedMatching -DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref NCI:C35808 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref MESH:D009357 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref ICD9CM:779.5 semapv:UnspecifiedMatching DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref ICD10CM:P96.1 semapv:UnspecifiedMatching +DOID:9828 neonatal abstinence syndrome oboInOwl:hasDbXref NCI:C35808 semapv:UnspecifiedMatching DOID:9834 hyperopia oboInOwl:hasDbXref ICD10CM:H52.0 semapv:UnspecifiedMatching DOID:9834 hyperopia oboInOwl:hasDbXref ICD9CM:367.0 semapv:UnspecifiedMatching DOID:9834 hyperopia oboInOwl:hasDbXref MESH:D006956 semapv:UnspecifiedMatching @@ -32188,8 +32214,8 @@ DOID:9840 esotropia oboInOwl:hasDbXref MESH:D004948 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref NCI:C34596 semapv:UnspecifiedMatching DOID:9840 esotropia oboInOwl:hasDbXref UMLS_CUI:C0014877 semapv:UnspecifiedMatching DOID:9841 hypotropia oboInOwl:hasDbXref UMLS_CUI:C0152208 semapv:UnspecifiedMatching -DOID:9841 hypotropia oboInOwl:hasDbXref ICD9CM:378.32 semapv:UnspecifiedMatching DOID:9841 hypotropia oboInOwl:hasDbXref NCI:C42086 semapv:UnspecifiedMatching +DOID:9841 hypotropia oboInOwl:hasDbXref ICD9CM:378.32 semapv:UnspecifiedMatching DOID:9842 total circumpapillary dystrophy of choroid oboInOwl:hasDbXref ICD9CM:363.52 semapv:UnspecifiedMatching DOID:9842 total circumpapillary dystrophy of choroid oboInOwl:hasDbXref UMLS_CUI:C0154896 semapv:UnspecifiedMatching DOID:9843 monofixation syndrome oboInOwl:hasDbXref ICD10CM:H50.42 semapv:UnspecifiedMatching @@ -32198,13 +32224,13 @@ DOID:9843 monofixation syndrome oboInOwl:hasDbXref UMLS_CUI:C0339611 semapv:Unsp DOID:9847 peripheral vertigo oboInOwl:hasDbXref ICD10CM:H81.399 semapv:UnspecifiedMatching DOID:9847 peripheral vertigo oboInOwl:hasDbXref ICD9CM:386.19 semapv:UnspecifiedMatching DOID:9847 peripheral vertigo oboInOwl:hasDbXref UMLS_CUI:C0029706 semapv:UnspecifiedMatching -DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref MESH:D018159 semapv:UnspecifiedMatching DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref ICD10CM:H81.0 semapv:UnspecifiedMatching +DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref MESH:D018159 semapv:UnspecifiedMatching DOID:9848 endolymphatic hydrops oboInOwl:hasDbXref UMLS_CUI:C0206586 semapv:UnspecifiedMatching +DOID:9849 Meniere's disease oboInOwl:hasDbXref OMIM:156000 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref NCI:C185243 semapv:UnspecifiedMatching -DOID:9849 Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0025281 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref MESH:D008575 semapv:UnspecifiedMatching -DOID:9849 Meniere's disease oboInOwl:hasDbXref OMIM:156000 semapv:UnspecifiedMatching +DOID:9849 Meniere's disease oboInOwl:hasDbXref UMLS_CUI:C0025281 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref ICD10CM:H81.0 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref GARD:10340 semapv:UnspecifiedMatching DOID:9849 Meniere's disease oboInOwl:hasDbXref ICD9CM:386.0 semapv:UnspecifiedMatching @@ -32217,12 +32243,12 @@ DOID:9856 congenital syphilis oboInOwl:hasDbXref ICD9CM:090 semapv:UnspecifiedMa DOID:9856 congenital syphilis oboInOwl:hasDbXref MESH:D013590 semapv:UnspecifiedMatching DOID:9856 congenital syphilis oboInOwl:hasDbXref NCI:C84649 semapv:UnspecifiedMatching DOID:9856 congenital syphilis oboInOwl:hasDbXref UMLS_CUI:C0039131 semapv:UnspecifiedMatching -DOID:9857 interstitial keratitis oboInOwl:hasDbXref ICD10CM:H16.30 semapv:UnspecifiedMatching DOID:9857 interstitial keratitis oboInOwl:hasDbXref ICD9CM:370.50 semapv:UnspecifiedMatching DOID:9857 interstitial keratitis oboInOwl:hasDbXref UMLS_CUI:C0155088 semapv:UnspecifiedMatching -DOID:9858 deep keratitis oboInOwl:hasDbXref UMLS_CUI:C0155087 semapv:UnspecifiedMatching +DOID:9857 interstitial keratitis oboInOwl:hasDbXref ICD10CM:H16.30 semapv:UnspecifiedMatching DOID:9858 deep keratitis oboInOwl:hasDbXref ICD10CM:H16.3 semapv:UnspecifiedMatching DOID:9858 deep keratitis oboInOwl:hasDbXref ICD9CM:370.5 semapv:UnspecifiedMatching +DOID:9858 deep keratitis oboInOwl:hasDbXref UMLS_CUI:C0155087 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref EFO:0004192 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref GARD:5782 semapv:UnspecifiedMatching DOID:986 alopecia areata oboInOwl:hasDbXref ICD10CM:L63 semapv:UnspecifiedMatching @@ -32266,8 +32292,8 @@ DOID:9877 urethral gland abscess oboInOwl:hasDbXref ICD10CM:N34.0 semapv:Unspeci DOID:9877 urethral gland abscess oboInOwl:hasDbXref ICD9CM:597.0 semapv:UnspecifiedMatching DOID:9877 urethral gland abscess oboInOwl:hasDbXref UMLS_CUI:C0156278 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref UMLS_CUI:C0026267 semapv:UnspecifiedMatching -DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:610840 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:607829 semapv:UnspecifiedMatching +DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:610840 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref NCI:C50655 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref OMIM:157700 semapv:UnspecifiedMatching DOID:988 mitral valve prolapse oboInOwl:hasDbXref MESH:D008945 semapv:UnspecifiedMatching @@ -32277,39 +32303,39 @@ DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref GARD:5900 semapv:Unspecif DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref OMIM:300376 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref ORDO:98895 semapv:UnspecifiedMatching DOID:9883 Becker muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0699741 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:309930 semapv:UnspecifiedMatching +DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310000 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref UMLS_CUI:C0026850 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:600416 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310095 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:310000 semapv:UnspecifiedMatching +DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:309930 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:309950 semapv:UnspecifiedMatching -DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:159050 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:158800 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref NCI:C84910 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref MESH:D009136 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref ICD10CM:G71.0 semapv:UnspecifiedMatching DOID:9884 muscular dystrophy oboInOwl:hasDbXref GARD:7922 semapv:UnspecifiedMatching +DOID:9884 muscular dystrophy oboInOwl:hasDbXref OMIM:159050 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref ICD10CM:H50.05 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref ICD9CM:378.05 semapv:UnspecifiedMatching DOID:9888 alternating esotropia oboInOwl:hasDbXref UMLS_CUI:C0152205 semapv:UnspecifiedMatching +DOID:9892 median arcuate ligament syndrome skos:exactMatch MESH:D000074742 semapv:UnspecifiedMatching +DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref UMLS_CUI:C1861783 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref ICD10CM:I77.4 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref ICD9CM:447.4 semapv:UnspecifiedMatching DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref MESH:D000074742 semapv:UnspecifiedMatching -DOID:9892 median arcuate ligament syndrome oboInOwl:hasDbXref UMLS_CUI:C1861783 semapv:UnspecifiedMatching -DOID:9892 median arcuate ligament syndrome skos:exactMatch MESH:D000074742 semapv:UnspecifiedMatching DOID:9893 periodontosis oboInOwl:hasDbXref UMLS_CUI:C0600298 semapv:UnspecifiedMatching -DOID:9893 periodontosis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching DOID:9893 periodontosis oboInOwl:hasDbXref ICD10CM:K05.4 semapv:UnspecifiedMatching DOID:9893 periodontosis oboInOwl:hasDbXref ICD9CM:523.5 semapv:UnspecifiedMatching +DOID:9893 periodontosis oboInOwl:hasDbXref MESH:D010520 semapv:UnspecifiedMatching +DOID:9898 villonodular synovitis oboInOwl:hasDbXref UMLS_CUI:C0158168 semapv:UnspecifiedMatching DOID:9898 villonodular synovitis oboInOwl:hasDbXref ICD10CM:M12.20 semapv:UnspecifiedMatching DOID:9898 villonodular synovitis oboInOwl:hasDbXref ICD9CM:719.2 semapv:UnspecifiedMatching -DOID:9898 villonodular synovitis oboInOwl:hasDbXref UMLS_CUI:C0158168 semapv:UnspecifiedMatching -DOID:990 congenital heart block oboInOwl:hasDbXref UMLS_CUI:C0149530 semapv:UnspecifiedMatching -DOID:990 congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching -DOID:990 congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:UnspecifiedMatching -DOID:990 congenital heart block oboInOwl:hasDbXref ICD10CM:Q24.6 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref GARD:6164 semapv:UnspecifiedMatching +DOID:990 congenital heart block oboInOwl:hasDbXref ICD10CM:Q24.6 semapv:UnspecifiedMatching DOID:990 congenital heart block oboInOwl:hasDbXref ICD9CM:746.86 semapv:UnspecifiedMatching +DOID:990 congenital heart block oboInOwl:hasDbXref MESH:C535758 semapv:UnspecifiedMatching +DOID:990 congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching +DOID:990 congenital heart block oboInOwl:hasDbXref UMLS_CUI:C0149530 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref ICD10CM:H00.1 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref ICD9CM:373.2 semapv:UnspecifiedMatching DOID:9903 meibomian cyst oboInOwl:hasDbXref MESH:D017043 semapv:UnspecifiedMatching @@ -32332,9 +32358,9 @@ DOID:9910 central corneal ulcer oboInOwl:hasDbXref UMLS_CUI:C0155069 semapv:Unsp DOID:9911 infected hydrocele oboInOwl:hasDbXref ICD9CM:603.1 semapv:UnspecifiedMatching DOID:9911 infected hydrocele oboInOwl:hasDbXref ICD10CM:N43.1 semapv:UnspecifiedMatching DOID:9911 infected hydrocele oboInOwl:hasDbXref UMLS_CUI:C0156300 semapv:UnspecifiedMatching +DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref MESH:D006481 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref UMLS_CUI:C0019103 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD9CM:065.1 semapv:UnspecifiedMatching -DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref MESH:D006481 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref ICD10CM:A98.1 semapv:UnspecifiedMatching DOID:992 Omsk hemorrhagic fever oboInOwl:hasDbXref GARD:8254 semapv:UnspecifiedMatching DOID:9923 developmental coordination disorder oboInOwl:hasDbXref ICD10CM:F82 semapv:UnspecifiedMatching @@ -32464,9 +32490,9 @@ DOID:9987 orbit sarcoma oboInOwl:hasDbXref NCI:C6095 semapv:UnspecifiedMatching DOID:9987 orbit sarcoma oboInOwl:hasDbXref UMLS_CUI:C1335131 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref UMLS_CUI:C0027927 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref NCI:C84935 semapv:UnspecifiedMatching -DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref ICD10CM:A52.3 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref ICD9CM:094 semapv:UnspecifiedMatching DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref MESH:D009494 semapv:UnspecifiedMatching +DOID:9988 tertiary neurosyphilis oboInOwl:hasDbXref ICD10CM:A52.3 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref GARD:2804 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref ICD10CM:D72.1 semapv:UnspecifiedMatching DOID:999 hypereosinophilic syndrome oboInOwl:hasDbXref ICD9CM:288.3 semapv:UnspecifiedMatching @@ -32480,9 +32506,9 @@ DOID:9993 hypoglycemia oboInOwl:hasDbXref NCI:C3126 semapv:UnspecifiedMatching DOID:9993 hypoglycemia oboInOwl:hasDbXref UMLS_CUI:C0020615 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref UMLS_CUI:C0877208 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref NCI:C171602 semapv:UnspecifiedMatching -DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref ICD9CM:674.5 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref ICD10CM:O90.3 semapv:UnspecifiedMatching DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref GARD:220 semapv:UnspecifiedMatching +DOID:9997 peripartum cardiomyopathy oboInOwl:hasDbXref ICD9CM:674.5 semapv:UnspecifiedMatching ExO:0000013 acid rain oboInOwl:hasDbXref ENVO:03000127 semapv:UnspecifiedMatching ExO:0000013 acid rain oboInOwl:hasDbXref OMIT:0016047 semapv:UnspecifiedMatching SYMP:0000178 weight loss oboInOwl:hasDbXref ICD9CM_2005:783.21 semapv:UnspecifiedMatching @@ -32509,8 +32535,8 @@ SYMP:0000456 left upper quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C023 SYMP:0000457 abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.0 semapv:UnspecifiedMatching SYMP:0000457 abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.00 semapv:UnspecifiedMatching SYMP:0000457 abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0000737 semapv:UnspecifiedMatching -SYMP:0000458 nausea oboInOwl:hasDbXref ICD9CM_2005:787.02 semapv:UnspecifiedMatching SYMP:0000458 nausea oboInOwl:hasDbXref UMLS_CUI:C0375548 semapv:UnspecifiedMatching +SYMP:0000458 nausea oboInOwl:hasDbXref ICD9CM_2005:787.02 semapv:UnspecifiedMatching SYMP:0000459 digestive system symptom oboInOwl:hasDbXref UMLS_CUI:C0159058 semapv:UnspecifiedMatching SYMP:0000459 digestive system symptom oboInOwl:hasDbXref ICD9CM_2005:787 semapv:UnspecifiedMatching SYMP:0000460 hepatomegaly oboInOwl:hasDbXref ICD9CM_2005:789.1 semapv:UnspecifiedMatching @@ -32528,8 +32554,8 @@ SYMP:0000466 delayed milestones oboInOwl:hasDbXref ICD9CM_2005:783.42 semapv:Uns SYMP:0000466 delayed milestones oboInOwl:hasDbXref UMLS_CUI:C0476241 semapv:UnspecifiedMatching SYMP:0000467 right lower quadrant abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375567 semapv:UnspecifiedMatching SYMP:0000467 right lower quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.43 semapv:UnspecifiedMatching -SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.47 semapv:UnspecifiedMatching SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375571 semapv:UnspecifiedMatching +SYMP:0000468 generalized abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.47 semapv:UnspecifiedMatching SYMP:0000469 epigastric abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.46 semapv:UnspecifiedMatching SYMP:0000469 epigastric abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375570 semapv:UnspecifiedMatching SYMP:0000470 left upper quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.42 semapv:UnspecifiedMatching @@ -32540,12 +32566,12 @@ SYMP:0000472 early satiety oboInOwl:hasDbXref ICD9CM_2005:780.94 semapv:Unspecif SYMP:0000472 early satiety oboInOwl:hasDbXref UMLS_CUI:C0239233 semapv:UnspecifiedMatching SYMP:0000473 nutrition, metabolism, and development symptom oboInOwl:hasDbXref ICD9CM_2005:783 semapv:UnspecifiedMatching SYMP:0000473 nutrition, metabolism, and development symptom oboInOwl:hasDbXref UMLS_CUI:C0159041 semapv:UnspecifiedMatching -SYMP:0000475 underweight oboInOwl:hasDbXref UMLS_CUI:C0041667 semapv:UnspecifiedMatching SYMP:0000475 underweight oboInOwl:hasDbXref ICD9CM_2005:783.22 semapv:UnspecifiedMatching +SYMP:0000475 underweight oboInOwl:hasDbXref UMLS_CUI:C0041667 semapv:UnspecifiedMatching SYMP:0000477 epigastric abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.36 semapv:UnspecifiedMatching SYMP:0000477 epigastric abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375562 semapv:UnspecifiedMatching -SYMP:0000478 abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching SYMP:0000478 abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0476310 semapv:UnspecifiedMatching +SYMP:0000478 abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.3 semapv:UnspecifiedMatching SYMP:0000479 abnormality of gait oboInOwl:hasDbXref ICD9CM_2005:781.2 semapv:UnspecifiedMatching SYMP:0000479 abnormality of gait oboInOwl:hasDbXref UMLS_CUI:C0575081 semapv:UnspecifiedMatching SYMP:0000480 nervous system symptom oboInOwl:hasDbXref ICD9CM_2005:781 semapv:UnspecifiedMatching @@ -32554,13 +32580,13 @@ SYMP:0000481 persistent vegetative state oboInOwl:hasDbXref ICD9CM_2005:780.03 s SYMP:0000481 persistent vegetative state oboInOwl:hasDbXref UMLS_CUI:C0242670 semapv:UnspecifiedMatching SYMP:0000482 alteration of consciousness oboInOwl:hasDbXref ICD9CM_2005:780.0 semapv:UnspecifiedMatching SYMP:0000482 alteration of consciousness oboInOwl:hasDbXref UMLS_CUI:C0234428 semapv:UnspecifiedMatching -SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238565 semapv:UnspecifiedMatching SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.64 semapv:UnspecifiedMatching -SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0232498 semapv:UnspecifiedMatching +SYMP:0000483 left lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238565 semapv:UnspecifiedMatching SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.6 semapv:UnspecifiedMatching SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.60 semapv:UnspecifiedMatching -SYMP:0000485 dysuria oboInOwl:hasDbXref ICD9CM_2005:788.1 semapv:UnspecifiedMatching +SYMP:0000484 abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0232498 semapv:UnspecifiedMatching SYMP:0000485 dysuria oboInOwl:hasDbXref UMLS_CUI:C0013428 semapv:UnspecifiedMatching +SYMP:0000485 dysuria oboInOwl:hasDbXref ICD9CM_2005:788.1 semapv:UnspecifiedMatching SYMP:0000486 urinary system symptom oboInOwl:hasDbXref ICD9CM_2005:788 semapv:UnspecifiedMatching SYMP:0000486 urinary system symptom oboInOwl:hasDbXref UMLS_CUI:C0476293 semapv:UnspecifiedMatching SYMP:0000487 rash oboInOwl:hasDbXref ICD9CM_2005:782.1 semapv:UnspecifiedMatching @@ -32570,13 +32596,13 @@ SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref ICD9CM_200 SYMP:0000488 skin and integumentary tissue symptom oboInOwl:hasDbXref UMLS_CUI:C0159037 semapv:UnspecifiedMatching SYMP:0000489 abnormal bowel sound oboInOwl:hasDbXref ICD9CM_2005:787.5 semapv:UnspecifiedMatching SYMP:0000489 abnormal bowel sound oboInOwl:hasDbXref UMLS_CUI:C0159060 semapv:UnspecifiedMatching -SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0375574 semapv:UnspecifiedMatching SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.69 semapv:UnspecifiedMatching -SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref UMLS_CUI:C0375553 semapv:UnspecifiedMatching +SYMP:0000490 multiple sites abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0375574 semapv:UnspecifiedMatching SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref ICD9CM_2005:788.37 semapv:UnspecifiedMatching +SYMP:0000491 continuous leakage of urine oboInOwl:hasDbXref UMLS_CUI:C0375553 semapv:UnspecifiedMatching +SYMP:0000492 urinary incontinence oboInOwl:hasDbXref UMLS_CUI:C0042024 semapv:UnspecifiedMatching SYMP:0000492 urinary incontinence oboInOwl:hasDbXref ICD9CM_2005:788.3 semapv:UnspecifiedMatching SYMP:0000492 urinary incontinence oboInOwl:hasDbXref ICD9CM_2005:788.30 semapv:UnspecifiedMatching -SYMP:0000492 urinary incontinence oboInOwl:hasDbXref UMLS_CUI:C0042024 semapv:UnspecifiedMatching SYMP:0000493 dysphagia oboInOwl:hasDbXref ICD9CM_2005:787.2 semapv:UnspecifiedMatching SYMP:0000493 dysphagia oboInOwl:hasDbXref UMLS_CUI:C0011168 semapv:UnspecifiedMatching SYMP:0000494 renal colic oboInOwl:hasDbXref ICD9CM_2005:788.0 semapv:UnspecifiedMatching @@ -32587,12 +32613,12 @@ SYMP:0000496 epigastric abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789. SYMP:0000496 epigastric abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0239280 semapv:UnspecifiedMatching SYMP:0000497 periumbilic abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.65 semapv:UnspecifiedMatching SYMP:0000497 periumbilic abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0375573 semapv:UnspecifiedMatching -SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0302540 semapv:UnspecifiedMatching SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.67 semapv:UnspecifiedMatching +SYMP:0000498 generalized abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0302540 semapv:UnspecifiedMatching SYMP:0000499 right upper quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238571 semapv:UnspecifiedMatching SYMP:0000499 right upper quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.61 semapv:UnspecifiedMatching -SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.63 semapv:UnspecifiedMatching SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238570 semapv:UnspecifiedMatching +SYMP:0000500 right lower quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.63 semapv:UnspecifiedMatching SYMP:0000501 left lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.34 semapv:UnspecifiedMatching SYMP:0000501 left lower quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375560 semapv:UnspecifiedMatching SYMP:0000502 mixed incontinence (female) (male) oboInOwl:hasDbXref ICD9CM_2005:788.33 semapv:UnspecifiedMatching @@ -32603,12 +32629,12 @@ SYMP:0000504 headache oboInOwl:hasDbXref ICD9CM_2005:784.0 semapv:UnspecifiedMat SYMP:0000504 headache oboInOwl:hasDbXref UMLS_CUI:C0018681 semapv:UnspecifiedMatching SYMP:0000505 throat pain oboInOwl:hasDbXref ICD9CM_2005:784.1 semapv:UnspecifiedMatching SYMP:0000505 throat pain oboInOwl:hasDbXref UMLS_CUI:C0242429 semapv:UnspecifiedMatching -SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref UMLS_CUI:C0576995 semapv:UnspecifiedMatching SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref ICD9CM_2005:784.8 semapv:UnspecifiedMatching +SYMP:0000506 hemorrhage from throat oboInOwl:hasDbXref UMLS_CUI:C0576995 semapv:UnspecifiedMatching SYMP:0000507 head swelling oboInOwl:hasDbXref ICD9CM_2005:784.2 semapv:UnspecifiedMatching SYMP:0000507 head swelling oboInOwl:hasDbXref UMLS_CUI:C0159045 semapv:UnspecifiedMatching -SYMP:0000508 aphasia oboInOwl:hasDbXref ICD9CM_2005:784.3 semapv:UnspecifiedMatching SYMP:0000508 aphasia oboInOwl:hasDbXref UMLS_CUI:C0003537 semapv:UnspecifiedMatching +SYMP:0000508 aphasia oboInOwl:hasDbXref ICD9CM_2005:784.3 semapv:UnspecifiedMatching SYMP:0000509 flatulence oboInOwl:hasDbXref ICD9CM_2005:787.3 semapv:UnspecifiedMatching SYMP:0000509 flatulence oboInOwl:hasDbXref UMLS_CUI:C0016205 semapv:UnspecifiedMatching SYMP:0000510 pallor oboInOwl:hasDbXref ICD9CM_2005:782.61 semapv:UnspecifiedMatching @@ -32619,12 +32645,12 @@ SYMP:0000512 male stress incontinence oboInOwl:hasDbXref ICD9CM_2005:788.32 sema SYMP:0000512 male stress incontinence oboInOwl:hasDbXref UMLS_CUI:C0302505 semapv:UnspecifiedMatching SYMP:0000513 stridor oboInOwl:hasDbXref ICD9CM_2005:786.1 semapv:UnspecifiedMatching SYMP:0000513 stridor oboInOwl:hasDbXref UMLS_CUI:C0038450 semapv:UnspecifiedMatching -SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref UMLS_CUI:C0476271 semapv:UnspecifiedMatching SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref ICD9CM_2005:786 semapv:UnspecifiedMatching -SYMP:0000515 hiccough oboInOwl:hasDbXref ICD9CM_2005:786.8 semapv:UnspecifiedMatching +SYMP:0000514 respiratory system and chest symptom oboInOwl:hasDbXref UMLS_CUI:C0476271 semapv:UnspecifiedMatching SYMP:0000515 hiccough oboInOwl:hasDbXref UMLS_CUI:C0019521 semapv:UnspecifiedMatching -SYMP:0000516 lump in chest oboInOwl:hasDbXref ICD9CM_2005:786.6 semapv:UnspecifiedMatching +SYMP:0000515 hiccough oboInOwl:hasDbXref ICD9CM_2005:786.8 semapv:UnspecifiedMatching SYMP:0000516 lump in chest oboInOwl:hasDbXref UMLS_CUI:C0159055 semapv:UnspecifiedMatching +SYMP:0000516 lump in chest oboInOwl:hasDbXref ICD9CM_2005:786.6 semapv:UnspecifiedMatching SYMP:0000517 hemoptysis oboInOwl:hasDbXref ICD9CM_2005:786.3 semapv:UnspecifiedMatching SYMP:0000517 hemoptysis oboInOwl:hasDbXref UMLS_CUI:C0019079 semapv:UnspecifiedMatching SYMP:0000518 generalized abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.07 semapv:UnspecifiedMatching @@ -32633,14 +32659,14 @@ SYMP:0000519 abnormal feces oboInOwl:hasDbXref ICD9CM_2005:787.7 semapv:Unspecif SYMP:0000519 abnormal feces oboInOwl:hasDbXref UMLS_CUI:C0162287 semapv:UnspecifiedMatching SYMP:0000520 visible peristalsis oboInOwl:hasDbXref ICD9CM_2005:787.4 semapv:UnspecifiedMatching SYMP:0000520 visible peristalsis oboInOwl:hasDbXref UMLS_CUI:C0159059 semapv:UnspecifiedMatching -SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref UMLS_CUI:C0497156 semapv:UnspecifiedMatching SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref ICD9CM_2005:785.6 semapv:UnspecifiedMatching -SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref UMLS_CUI:C0699815 semapv:UnspecifiedMatching +SYMP:0000521 enlargement of lymph nodes oboInOwl:hasDbXref UMLS_CUI:C0497156 semapv:UnspecifiedMatching SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref ICD9CM_2005:783.3 semapv:UnspecifiedMatching +SYMP:0000522 feeding difficulties and mismanagement oboInOwl:hasDbXref UMLS_CUI:C0699815 semapv:UnspecifiedMatching SYMP:0000523 anorexia oboInOwl:hasDbXref ICD9CM_2005:783.0 semapv:UnspecifiedMatching SYMP:0000523 anorexia oboInOwl:hasDbXref UMLS_CUI:C0003123 semapv:UnspecifiedMatching -SYMP:0000524 polyphagia oboInOwl:hasDbXref ICD9CM_2005:783.6 semapv:UnspecifiedMatching SYMP:0000524 polyphagia oboInOwl:hasDbXref UMLS_CUI:C0020505 semapv:UnspecifiedMatching +SYMP:0000524 polyphagia oboInOwl:hasDbXref ICD9CM_2005:783.6 semapv:UnspecifiedMatching SYMP:0000525 transient alteration of awareness oboInOwl:hasDbXref ICD9CM_2005:780.02 semapv:UnspecifiedMatching SYMP:0000525 transient alteration of awareness oboInOwl:hasDbXref UMLS_CUI:C0221539 semapv:UnspecifiedMatching SYMP:0000526 ascites oboInOwl:hasDbXref ICD9CM_2005:789.5 semapv:UnspecifiedMatching @@ -32651,12 +32677,12 @@ SYMP:0000528 cardiovascular system symptom oboInOwl:hasDbXref ICD9CM_2005:785 se SYMP:0000528 cardiovascular system symptom oboInOwl:hasDbXref UMLS_CUI:C0159049 semapv:UnspecifiedMatching SYMP:0000529 tachycardia oboInOwl:hasDbXref ICD9CM_2005:785.0 semapv:UnspecifiedMatching SYMP:0000529 tachycardia oboInOwl:hasDbXref UMLS_CUI:C0039231 semapv:UnspecifiedMatching -SYMP:0000530 palpitation oboInOwl:hasDbXref UMLS_CUI:C0030252 semapv:UnspecifiedMatching SYMP:0000530 palpitation oboInOwl:hasDbXref ICD9CM_2005:785.1 semapv:UnspecifiedMatching +SYMP:0000530 palpitation oboInOwl:hasDbXref UMLS_CUI:C0030252 semapv:UnspecifiedMatching SYMP:0000531 splenomegaly oboInOwl:hasDbXref ICD9CM_2005:789.2 semapv:UnspecifiedMatching SYMP:0000531 splenomegaly oboInOwl:hasDbXref UMLS_CUI:C0038002 semapv:UnspecifiedMatching -SYMP:0000532 urge incontinence oboInOwl:hasDbXref ICD9CM_2005:788.31 semapv:UnspecifiedMatching SYMP:0000532 urge incontinence oboInOwl:hasDbXref UMLS_CUI:C0150045 semapv:UnspecifiedMatching +SYMP:0000532 urge incontinence oboInOwl:hasDbXref ICD9CM_2005:788.31 semapv:UnspecifiedMatching SYMP:0000533 post-void dribbling oboInOwl:hasDbXref ICD9CM_2005:788.35 semapv:UnspecifiedMatching SYMP:0000533 post-void dribbling oboInOwl:hasDbXref UMLS_CUI:C0375552 semapv:UnspecifiedMatching SYMP:0000534 spontaneous ecchymoses oboInOwl:hasDbXref ICD9CM_2005:782.7 semapv:UnspecifiedMatching @@ -32667,12 +32693,12 @@ SYMP:0000536 disturbance of skin sensation oboInOwl:hasDbXref ICD9CM_2005:782.0 SYMP:0000536 disturbance of skin sensation oboInOwl:hasDbXref UMLS_CUI:C0012766 semapv:UnspecifiedMatching SYMP:0000537 cyanosis oboInOwl:hasDbXref ICD9CM_2005:782.5 semapv:UnspecifiedMatching SYMP:0000537 cyanosis oboInOwl:hasDbXref UMLS_CUI:C0010520 semapv:UnspecifiedMatching -SYMP:0000538 edema oboInOwl:hasDbXref UMLS_CUI:C0013604 semapv:UnspecifiedMatching SYMP:0000538 edema oboInOwl:hasDbXref ICD9CM_2005:782.3 semapv:UnspecifiedMatching +SYMP:0000538 edema oboInOwl:hasDbXref UMLS_CUI:C0013604 semapv:UnspecifiedMatching SYMP:0000539 jaundice oboInOwl:hasDbXref ICD9CM_2005:782.4 semapv:UnspecifiedMatching SYMP:0000539 jaundice oboInOwl:hasDbXref UMLS_CUI:C0476232 semapv:UnspecifiedMatching -SYMP:0000540 painful respiration oboInOwl:hasDbXref ICD9CM_2005:786.52 semapv:UnspecifiedMatching SYMP:0000540 painful respiration oboInOwl:hasDbXref UMLS_CUI:C0423729 semapv:UnspecifiedMatching +SYMP:0000540 painful respiration oboInOwl:hasDbXref ICD9CM_2005:786.52 semapv:UnspecifiedMatching SYMP:0000541 periumbilic abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.35 semapv:UnspecifiedMatching SYMP:0000541 periumbilic abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375561 semapv:UnspecifiedMatching SYMP:0000542 epigastric abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.06 semapv:UnspecifiedMatching @@ -32683,12 +32709,12 @@ SYMP:0000544 transient paralysis of limb oboInOwl:hasDbXref ICD9CM_2005:781.4 se SYMP:0000544 transient paralysis of limb oboInOwl:hasDbXref UMLS_CUI:C0159034 semapv:UnspecifiedMatching SYMP:0000545 multiple sites abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.39 semapv:UnspecifiedMatching SYMP:0000545 multiple sites abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375564 semapv:UnspecifiedMatching -SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0740603 semapv:UnspecifiedMatching SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.03 semapv:UnspecifiedMatching +SYMP:0000546 right lower quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0740603 semapv:UnspecifiedMatching SYMP:0000547 right upper quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.01 semapv:UnspecifiedMatching SYMP:0000547 right upper quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0235299 semapv:UnspecifiedMatching -SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.33 semapv:UnspecifiedMatching SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375559 semapv:UnspecifiedMatching +SYMP:0000548 right lower quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.33 semapv:UnspecifiedMatching SYMP:0000549 generalized abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.37 semapv:UnspecifiedMatching SYMP:0000549 generalized abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375563 semapv:UnspecifiedMatching SYMP:0000550 clubbing of fingers oboInOwl:hasDbXref ICD9CM_2005:781.5 semapv:UnspecifiedMatching @@ -32697,12 +32723,12 @@ SYMP:0000551 disturbances of sensation of smell and taste oboInOwl:hasDbXref ICD SYMP:0000551 disturbances of sensation of smell and taste oboInOwl:hasDbXref UMLS_CUI:C0495689 semapv:UnspecifiedMatching SYMP:0000552 meningismus oboInOwl:hasDbXref ICD9CM_2005:781.6 semapv:UnspecifiedMatching SYMP:0000552 meningismus oboInOwl:hasDbXref UMLS_CUI:C0025287 semapv:UnspecifiedMatching -SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref UMLS_CUI:C0840927 semapv:UnspecifiedMatching SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref ICD9CM_2005:781.8 semapv:UnspecifiedMatching +SYMP:0000553 neurologic neglect syndrome oboInOwl:hasDbXref UMLS_CUI:C0840927 semapv:UnspecifiedMatching SYMP:0000554 left lower quadrant abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.44 semapv:UnspecifiedMatching SYMP:0000554 left lower quadrant abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375568 semapv:UnspecifiedMatching -SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.32 semapv:UnspecifiedMatching SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375558 semapv:UnspecifiedMatching +SYMP:0000555 left upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.32 semapv:UnspecifiedMatching SYMP:0000556 localized superficial lump oboInOwl:hasDbXref ICD9CM_2005:782.2 semapv:UnspecifiedMatching SYMP:0000556 localized superficial lump oboInOwl:hasDbXref UMLS_CUI:C0476228 semapv:UnspecifiedMatching SYMP:0000557 urinary retention oboInOwl:hasDbXref ICD9CM_2005:788.2 semapv:UnspecifiedMatching @@ -32710,17 +32736,17 @@ SYMP:0000557 urinary retention oboInOwl:hasDbXref ICD9CM_2005:788.20 semapv:Unsp SYMP:0000557 urinary retention oboInOwl:hasDbXref UMLS_CUI:C0080274 semapv:UnspecifiedMatching SYMP:0000558 incomplete bladder emptying oboInOwl:hasDbXref ICD9CM_2005:788.21 semapv:UnspecifiedMatching SYMP:0000558 incomplete bladder emptying oboInOwl:hasDbXref UMLS_CUI:C0344365 semapv:UnspecifiedMatching -SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM_2005:784.40 semapv:UnspecifiedMatching SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM_2005:784.4 semapv:UnspecifiedMatching +SYMP:0000559 voice disturbance oboInOwl:hasDbXref ICD9CM_2005:784.40 semapv:UnspecifiedMatching SYMP:0000559 voice disturbance oboInOwl:hasDbXref UMLS_CUI:C0042940 semapv:UnspecifiedMatching SYMP:0000560 polydipsia oboInOwl:hasDbXref ICD9CM_2005:783.5 semapv:UnspecifiedMatching SYMP:0000560 polydipsia oboInOwl:hasDbXref UMLS_CUI:C0085602 semapv:UnspecifiedMatching -SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0375555 semapv:UnspecifiedMatching SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.09 semapv:UnspecifiedMatching -SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.31 semapv:UnspecifiedMatching +SYMP:0000561 multiple sites abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0375555 semapv:UnspecifiedMatching SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref UMLS_CUI:C0375557 semapv:UnspecifiedMatching -SYMP:0000563 urinary frequency oboInOwl:hasDbXref ICD9CM_2005:788.41 semapv:UnspecifiedMatching +SYMP:0000562 right upper quadrant abdominal swelling oboInOwl:hasDbXref ICD9CM_2005:789.31 semapv:UnspecifiedMatching SYMP:0000563 urinary frequency oboInOwl:hasDbXref UMLS_CUI:C0042023 semapv:UnspecifiedMatching +SYMP:0000563 urinary frequency oboInOwl:hasDbXref ICD9CM_2005:788.41 semapv:UnspecifiedMatching SYMP:0000564 nocturia oboInOwl:hasDbXref ICD9CM_2005:788.43 semapv:UnspecifiedMatching SYMP:0000564 nocturia oboInOwl:hasDbXref UMLS_CUI:C0028734 semapv:UnspecifiedMatching SYMP:0000565 polyuria oboInOwl:hasDbXref ICD9CM_2005:788.42 semapv:UnspecifiedMatching @@ -32731,12 +32757,12 @@ SYMP:0000567 general symptom oboInOwl:hasDbXref ICD9CM_2005:780 semapv:Unspecifi SYMP:0000567 general symptom oboInOwl:hasDbXref UMLS_CUI:C0159028 semapv:UnspecifiedMatching SYMP:0000568 short stature oboInOwl:hasDbXref ICD9CM_2005:783.43 semapv:UnspecifiedMatching SYMP:0000568 short stature oboInOwl:hasDbXref UMLS_CUI:C0349588 semapv:UnspecifiedMatching -SYMP:0000569 oliguria oboInOwl:hasDbXref UMLS_CUI:C0028962 semapv:UnspecifiedMatching SYMP:0000569 oliguria oboInOwl:hasDbXref ICD9CM_2005:788.5 semapv:UnspecifiedMatching +SYMP:0000569 oliguria oboInOwl:hasDbXref UMLS_CUI:C0028962 semapv:UnspecifiedMatching SYMP:0000570 diarrhea oboInOwl:hasDbXref ICD9CM_2005:787.91 semapv:UnspecifiedMatching SYMP:0000570 diarrhea oboInOwl:hasDbXref UMLS_CUI:C0011991 semapv:UnspecifiedMatching -SYMP:0000571 insomnia oboInOwl:hasDbXref ICD9CM_2005:780.52 semapv:UnspecifiedMatching SYMP:0000571 insomnia oboInOwl:hasDbXref UMLS_CUI:C0029645 semapv:UnspecifiedMatching +SYMP:0000571 insomnia oboInOwl:hasDbXref ICD9CM_2005:780.52 semapv:UnspecifiedMatching SYMP:0000572 splitting of urinary stream oboInOwl:hasDbXref ICD9CM_2005:788.61 semapv:UnspecifiedMatching SYMP:0000572 splitting of urinary stream oboInOwl:hasDbXref UMLS_CUI:C0232855 semapv:UnspecifiedMatching SYMP:0000573 urinary stream symptom oboInOwl:hasDbXref ICD9CM_2005:788.6 semapv:UnspecifiedMatching @@ -32746,13 +32772,13 @@ SYMP:0000574 aphonia oboInOwl:hasDbXref ICD9CM_2005:784.41 semapv:UnspecifiedMat SYMP:0000574 aphonia oboInOwl:hasDbXref UMLS_CUI:C0003564 semapv:UnspecifiedMatching SYMP:0000575 precordial pain oboInOwl:hasDbXref ICD9CM_2005:786.51 semapv:UnspecifiedMatching SYMP:0000575 precordial pain oboInOwl:hasDbXref UMLS_CUI:C0232286 semapv:UnspecifiedMatching -SYMP:0000576 chest pain oboInOwl:hasDbXref UMLS_CUI:C0008031 semapv:UnspecifiedMatching -SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM_2005:786.50 semapv:UnspecifiedMatching SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM_2005:786.5 semapv:UnspecifiedMatching +SYMP:0000576 chest pain oboInOwl:hasDbXref ICD9CM_2005:786.50 semapv:UnspecifiedMatching +SYMP:0000576 chest pain oboInOwl:hasDbXref UMLS_CUI:C0008031 semapv:UnspecifiedMatching SYMP:0000577 fussy infant oboInOwl:hasDbXref ICD9CM_2005:780.91 semapv:UnspecifiedMatching SYMP:0000577 fussy infant oboInOwl:hasDbXref UMLS_CUI:C1135254 semapv:UnspecifiedMatching -SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref ICD9CM_2005:788.34 semapv:UnspecifiedMatching SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref UMLS_CUI:C0375551 semapv:UnspecifiedMatching +SYMP:0000578 incontinence without sensory awareness oboInOwl:hasDbXref ICD9CM_2005:788.34 semapv:UnspecifiedMatching SYMP:0000579 insomnia with sleep apnea oboInOwl:hasDbXref ICD9CM_2005:780.51 semapv:UnspecifiedMatching SYMP:0000579 insomnia with sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0159030 semapv:UnspecifiedMatching SYMP:0000580 dysfunctions associated with sleep stages oboInOwl:hasDbXref ICD9CM_2005:780.56 semapv:UnspecifiedMatching @@ -32763,12 +32789,12 @@ SYMP:0000582 hypersomnia oboInOwl:hasDbXref ICD9CM_2005:780.54 semapv:Unspecifie SYMP:0000582 hypersomnia oboInOwl:hasDbXref UMLS_CUI:C0029637 semapv:UnspecifiedMatching SYMP:0000583 hypersomnia with sleep apnea oboInOwl:hasDbXref ICD9CM_2005:780.53 semapv:UnspecifiedMatching SYMP:0000583 hypersomnia with sleep apnea oboInOwl:hasDbXref UMLS_CUI:C0020530 semapv:UnspecifiedMatching -SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref UMLS_CUI:C0159031 semapv:UnspecifiedMatching SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref ICD9CM_2005:780.55 semapv:UnspecifiedMatching -SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref ICD9CM_2005:780.58 semapv:UnspecifiedMatching +SYMP:0000584 disruptions of 24-hour sleep-wake cycle oboInOwl:hasDbXref UMLS_CUI:C0159031 semapv:UnspecifiedMatching SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref UMLS_CUI:C1455873 semapv:UnspecifiedMatching -SYMP:0000586 overflow incontinence oboInOwl:hasDbXref ICD9CM_2005:788.38 semapv:UnspecifiedMatching +SYMP:0000585 sleep related movement disorder oboInOwl:hasDbXref ICD9CM_2005:780.58 semapv:UnspecifiedMatching SYMP:0000586 overflow incontinence oboInOwl:hasDbXref UMLS_CUI:C0312413 semapv:UnspecifiedMatching +SYMP:0000586 overflow incontinence oboInOwl:hasDbXref ICD9CM_2005:788.38 semapv:UnspecifiedMatching SYMP:0000587 abnormal chest sound oboInOwl:hasDbXref ICD9CM_2005:786.7 semapv:UnspecifiedMatching SYMP:0000587 abnormal chest sound oboInOwl:hasDbXref UMLS_CUI:C0159056 semapv:UnspecifiedMatching SYMP:0000588 extravasation of urine oboInOwl:hasDbXref ICD9CM_2005:788.8 semapv:UnspecifiedMatching @@ -32779,12 +32805,12 @@ SYMP:0000590 urinary urgency oboInOwl:hasDbXref ICD9CM_2005:788.63 semapv:Unspec SYMP:0000590 urinary urgency oboInOwl:hasDbXref UMLS_CUI:C0085606 semapv:UnspecifiedMatching SYMP:0000591 left upper quadrant abdominal tenderness oboInOwl:hasDbXref ICD9CM_2005:789.62 semapv:UnspecifiedMatching SYMP:0000591 left upper quadrant abdominal tenderness oboInOwl:hasDbXref UMLS_CUI:C0238566 semapv:UnspecifiedMatching -SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref UMLS_CUI:C0497134 semapv:UnspecifiedMatching SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref ICD9CM_2005:780.92 semapv:UnspecifiedMatching -SYMP:0000593 gangrene oboInOwl:hasDbXref ICD9CM_2005:785.4 semapv:UnspecifiedMatching +SYMP:0000592 excessive crying of infant oboInOwl:hasDbXref UMLS_CUI:C0497134 semapv:UnspecifiedMatching SYMP:0000593 gangrene oboInOwl:hasDbXref UMLS_CUI:C0017086 semapv:UnspecifiedMatching -SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref ICD9CM_2005:781.0 semapv:UnspecifiedMatching +SYMP:0000593 gangrene oboInOwl:hasDbXref ICD9CM_2005:785.4 semapv:UnspecifiedMatching SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref UMLS_CUI:C0392702 semapv:UnspecifiedMatching +SYMP:0000594 abnormal involuntary movement oboInOwl:hasDbXref ICD9CM_2005:781.0 semapv:UnspecifiedMatching SYMP:0000595 febrile convulsion oboInOwl:hasDbXref ICD9CM_2005:780.31 semapv:UnspecifiedMatching SYMP:0000595 febrile convulsion oboInOwl:hasDbXref UMLS_CUI:C0009952 semapv:UnspecifiedMatching SYMP:0000596 convulsion oboInOwl:hasDbXref ICD9CM_2005:780.3 semapv:UnspecifiedMatching @@ -32793,14 +32819,14 @@ SYMP:0000597 head and neck symptom oboInOwl:hasDbXref ICD9CM_2005:784 semapv:Uns SYMP:0000597 head and neck symptom oboInOwl:hasDbXref UMLS_CUI:C0476247 semapv:UnspecifiedMatching SYMP:0000598 respiratory abnormality oboInOwl:hasDbXref ICD9CM_2005:786.0 semapv:UnspecifiedMatching SYMP:0000598 respiratory abnormality oboInOwl:hasDbXref UMLS_CUI:C0159053 semapv:UnspecifiedMatching -SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref UMLS_CUI:C0008039 semapv:UnspecifiedMatching SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref ICD9CM_2005:786.04 semapv:UnspecifiedMatching +SYMP:0000599 cheyne-stokes respiration oboInOwl:hasDbXref UMLS_CUI:C0008039 semapv:UnspecifiedMatching SYMP:0000600 apnea oboInOwl:hasDbXref ICD9CM_2005:786.03 semapv:UnspecifiedMatching SYMP:0000600 apnea oboInOwl:hasDbXref UMLS_CUI:C0003578 semapv:UnspecifiedMatching SYMP:0000601 hyperventilation oboInOwl:hasDbXref ICD9CM_2005:786.01 semapv:UnspecifiedMatching SYMP:0000601 hyperventilation oboInOwl:hasDbXref UMLS_CUI:C0020578 semapv:UnspecifiedMatching -SYMP:0000602 orthopnea oboInOwl:hasDbXref ICD9CM_2005:786.02 semapv:UnspecifiedMatching SYMP:0000602 orthopnea oboInOwl:hasDbXref UMLS_CUI:C0085619 semapv:UnspecifiedMatching +SYMP:0000602 orthopnea oboInOwl:hasDbXref ICD9CM_2005:786.02 semapv:UnspecifiedMatching SYMP:0000603 tachypnea oboInOwl:hasDbXref ICD9CM_2005:786.06 semapv:UnspecifiedMatching SYMP:0000603 tachypnea oboInOwl:hasDbXref UMLS_CUI:C0231835 semapv:UnspecifiedMatching SYMP:0000604 wheezing oboInOwl:hasDbXref ICD9CM_2005:786.07 semapv:UnspecifiedMatching @@ -32809,30 +32835,30 @@ SYMP:0000605 coma oboInOwl:hasDbXref ICD9CM_2005:780.01 semapv:UnspecifiedMatchi SYMP:0000605 coma oboInOwl:hasDbXref UMLS_CUI:C0009421 semapv:UnspecifiedMatching SYMP:0000606 nocturnal enuresis oboInOwl:hasDbXref ICD9CM_2005:788.36 semapv:UnspecifiedMatching SYMP:0000606 nocturnal enuresis oboInOwl:hasDbXref UMLS_CUI:C0270327 semapv:UnspecifiedMatching -SYMP:0000607 hallucination oboInOwl:hasDbXref UMLS_CUI:C0018524 semapv:UnspecifiedMatching SYMP:0000607 hallucination oboInOwl:hasDbXref ICD9CM_2005:780.1 semapv:UnspecifiedMatching +SYMP:0000607 hallucination oboInOwl:hasDbXref UMLS_CUI:C0018524 semapv:UnspecifiedMatching SYMP:0000608 syncope and collapse oboInOwl:hasDbXref ICD9CM_2005:780.2 semapv:UnspecifiedMatching SYMP:0000608 syncope and collapse oboInOwl:hasDbXref UMLS_CUI:C0039070 semapv:UnspecifiedMatching -SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref ICD9CM_2005:780.8 semapv:UnspecifiedMatching SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref UMLS_CUI:C0476476 semapv:UnspecifiedMatching -SYMP:0000610 dizziness oboInOwl:hasDbXref ICD9CM_2005:780.4 semapv:UnspecifiedMatching +SYMP:0000609 generalized hyperhidrosis oboInOwl:hasDbXref ICD9CM_2005:780.8 semapv:UnspecifiedMatching SYMP:0000610 dizziness oboInOwl:hasDbXref UMLS_CUI:C0476206 semapv:UnspecifiedMatching +SYMP:0000610 dizziness oboInOwl:hasDbXref ICD9CM_2005:780.4 semapv:UnspecifiedMatching SYMP:0000611 periumbilic abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.05 semapv:UnspecifiedMatching SYMP:0000611 periumbilic abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0740594 semapv:UnspecifiedMatching SYMP:0000612 periumbilic abdominal rigidity oboInOwl:hasDbXref ICD9CM_2005:789.45 semapv:UnspecifiedMatching SYMP:0000612 periumbilic abdominal rigidity oboInOwl:hasDbXref UMLS_CUI:C0375569 semapv:UnspecifiedMatching SYMP:0000613 fever oboInOwl:hasDbXref ICD9CM_2005:780.6 semapv:UnspecifiedMatching SYMP:0000613 fever oboInOwl:hasDbXref UMLS_CUI:C0015967 semapv:UnspecifiedMatching -SYMP:0000614 cough oboInOwl:hasDbXref UMLS_CUI:C0010200 semapv:UnspecifiedMatching SYMP:0000614 cough oboInOwl:hasDbXref ICD9CM_2005:786.2 semapv:UnspecifiedMatching -SYMP:0000616 loss of height oboInOwl:hasDbXref UMLS_CUI:C0424641 semapv:UnspecifiedMatching +SYMP:0000614 cough oboInOwl:hasDbXref UMLS_CUI:C0010200 semapv:UnspecifiedMatching SYMP:0000616 loss of height oboInOwl:hasDbXref ICD9CM_2005:781.91 semapv:UnspecifiedMatching +SYMP:0000616 loss of height oboInOwl:hasDbXref UMLS_CUI:C0424641 semapv:UnspecifiedMatching SYMP:0000617 torticollis oboInOwl:hasDbXref ICD9CM_2005:781.93 semapv:UnspecifiedMatching SYMP:0000617 torticollis oboInOwl:hasDbXref UMLS_CUI:C0028856 semapv:UnspecifiedMatching SYMP:0000618 abnormal posture oboInOwl:hasDbXref ICD9CM_2005:781.92 semapv:UnspecifiedMatching SYMP:0000618 abnormal posture oboInOwl:hasDbXref UMLS_CUI:C0231471 semapv:UnspecifiedMatching -SYMP:0000619 tetany oboInOwl:hasDbXref ICD9CM_2005:781.7 semapv:UnspecifiedMatching SYMP:0000619 tetany oboInOwl:hasDbXref UMLS_CUI:C0039621 semapv:UnspecifiedMatching +SYMP:0000619 tetany oboInOwl:hasDbXref ICD9CM_2005:781.7 semapv:UnspecifiedMatching SYMP:0000620 left lower quadrant abdominal pain oboInOwl:hasDbXref ICD9CM_2005:789.04 semapv:UnspecifiedMatching SYMP:0000620 left lower quadrant abdominal pain oboInOwl:hasDbXref UMLS_CUI:C0238551 semapv:UnspecifiedMatching SYMP:0000621 alexia oboInOwl:hasDbXref ICD9CM_2005:784.6 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index 390fb0c7..2d5fd6c9 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/9fb5fc2e-8254-4ed0-b2cd-c2095bcaa167 +# mapping_set_id: https://w3id.org/sssom/mappings/c9c4bb57-1db6-4763-8f71-426028746a04 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 5ec4698b..8e38d4d4 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/4f63e789-54ab-49ba-9550-d605c912e9bc +# mapping_set_id: https://w3id.org/sssom/mappings/0fe09775-56ea-4458-a6d1-1560e370b3e8 diff --git a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv index 6d84e262..a1240e13 100644 --- a/src/mappings/mondo-sources-all-lexical-2.sssom.tsv +++ b/src/mappings/mondo-sources-all-lexical-2.sssom.tsv @@ -14,7 +14,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/0a3d59c7-2e5e-46d3-818b-b757d5616af1 +# mapping_set_id: https://w3id.org/sssom/mappings/89c06650-eaa7-44fc-a314-2900bfdc1a78 # mapping_tool: oaklib # object_match_field: # - oio:hasDbXref @@ -25,26 +25,26 @@ # subject_preprocessing: # - semapv:RegularExpressionReplacement subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string subject_preprocessing object_preprocessing -MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder -MONDO:0000001 disease skos:exactMatch NCIT:C156809 Medical Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medical condition MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement +MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder semapv:RegularExpressionReplacement +MONDO:0000001 disease skos:exactMatch NCIT:C156809 Medical Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label medical condition MONDO:0000001 disease skos:exactMatch NCIT:C25457 Condition semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label condition MONDO:0000001 disease skos:exactMatch Orphanet:557493 disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label disorder semapv:RegularExpressionReplacement -MONDO:0000004 adrenocortical insufficiency skos:exactMatch NCIT:C113211 Hypocortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocortisolemia MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement MONDO:0000004 adrenocortical insufficiency skos:narrowMatch ICD10CM:E27.49 Other adrenocortical insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adrenocortical insufficiency semapv:RegularExpressionReplacement +MONDO:0000004 adrenocortical insufficiency skos:exactMatch NCIT:C113211 Hypocortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypocortisolemia MONDO:0000022 nocturnal enuresis skos:exactMatch OMIM:600631 enuresis, nocturnal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bedwetting MONDO:0000044 hereditary hypophosphatemic rickets skos:closeMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060873 -MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 +MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 MONDO:0000087 polymicrogyria skos:closeMatch Orphanet:35981 Polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266464 +MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034013 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058084 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044701 MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 -MONDO:0000088 precocious puberty skos:closeMatch Orphanet:95708 Rare precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011629 MONDO:0000104 anemia, hypochromic microcytic with iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673913 MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 MONDO:0000107 auriculocondylar syndrome skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538270 @@ -54,29 +54,29 @@ MONDO:0000110 bifid nose skos:closeMatch Orphanet:2695 Bifid nose semapv:Lexical MONDO:0000115 Chiari malformation skos:exactMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arnold-chiari malformation MONDO:0000127 geleophysic dysplasia skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063361 MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 -MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 MONDO:0000128 giant axonal neuropathy skos:exactMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label giant axonal neuropathy +MONDO:0000128 giant axonal neuropathy skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056768 MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label icf syndrome +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850343 MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000141 mosaic variegated aneuploidy syndrome skos:exactMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000141 mosaic variegated aneuploidy syndrome skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536987 MONDO:0000170 microphthalmia, isolated, with coloboma skos:exactMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome -MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hard syndrome MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058494 -MONDO:0000179 Neu-Laxova syndrome skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neu-laxova syndrome +MONDO:0000171 muscular dystrophy-dystroglycanopathy, type A skos:exactMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome +MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265218 MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536405 -MONDO:0000179 Neu-Laxova syndrome skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265218 -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796013 +MONDO:0000179 Neu-Laxova syndrome skos:exactMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neu-laxova syndrome +MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laband syndrome MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000200 Zimmermann-Laband syndrome skos:exactMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laband syndrome +MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000200 Zimmermann-Laband syndrome skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796013 MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616033 MONDO:0000211 striatal degeneration, autosomal dominant skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836694 MONDO:0000212 hypercalcemia, infantile skos:exactMatch OMIM:143880 hypercalcemia, infantile, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercalcemia, idiopathic, of infancy @@ -86,104 +86,104 @@ MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus ty MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperphosphatemia MONDO:0000328 hyperphosphatemia skos:exactMatch NCIT:C113750 Hyperphosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperphosphatemia MONDO:0000330 endemic typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028282 -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ullrich congenital muscular dystrophy -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410179 +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, ullrich type MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy +MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410179 MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, ullrich type +MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ullrich congenital muscular dystrophy +MONDO:0000355 Ullrich congenital muscular dystrophy skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome -MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym costovertebral dysplasia -MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylocostal dysplasia +MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 MONDO:0000359 spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jarcho-levin syndrome +MONDO:0000359 spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym costovertebral dysplasia MONDO:0000359 spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537565 MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary congenital glaucoma MONDO:0000365 primary congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary congenital glaucoma MONDO:0000376 respiratory system cancer skos:exactMatch NCIT:C4571 Malignant Respiratory System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant respiratory system neoplasm -MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenoid cystic carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C8193 Paranasal Sinus Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus squamous cell carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6018 Paranasal Sinus Mucoepidermoid Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus mucoepidermoid carcinoma MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6017 Paranasal Sinus Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenocarcinoma +MONDO:0000380 paranasal sinus carcinoma skos:closeMatch NCIT:C6019 Paranasal Sinus Adenoid Cystic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paranasal sinus adenoid cystic carcinoma MONDO:0000390 vitelliform macular dystrophy skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339510 MONDO:0000395 alcohol-related birth defect skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3146244 MONDO:0000397 ataxic cerebral palsy skos:exactMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ataxic cerebral palsy +MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome +MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C92728 Alcohol Related Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol related neurodevelopmental disorder MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985290 MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C84713 Fetal Alcohol Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal alcohol syndrome -MONDO:0000408 fetal alcohol spectrum disorder skos:exactMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal alcohol spectrum disorders -MONDO:0000408 fetal alcohol spectrum disorder skos:closeMatch NCIT:C92728 Alcohol Related Neurodevelopmental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol related neurodevelopmental disorder MONDO:0000426 autosomal dominant disease skos:exactMatch NCIT:C98829 Autosomal Dominant Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant disorder semapv:RegularExpressionReplacement MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 -MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C82341 Spinocerebellar Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinocerebellar ataxia MONDO:0000437 cerebellar ataxia skos:closeMatch Orphanet:102002 Rare ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare ataxia MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia +MONDO:0000437 cerebellar ataxia skos:closeMatch NCIT:C82341 Spinocerebellar Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spinocerebellar ataxia MONDO:0000440 metabolic acidosis skos:exactMatch NCIT:C28228 Metabolic Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic acidosis -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 -MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158683 +MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 +MONDO:0000447 autosomal dominant polycystic liver disease skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 MONDO:0000453 short QT syndrome skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial short qt syndrome MONDO:0000455 cone dystrophy skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label progressive cone dystrophy MONDO:0000455 cone dystrophy skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy -MONDO:0000463 Ochoa syndrome skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 -MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ochoa syndrome MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ochoa syndrome -MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression +MONDO:0000463 Ochoa syndrome skos:exactMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urofacial syndrome MONDO:0000463 Ochoa syndrome skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536480 -MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement +MONDO:0000463 Ochoa syndrome skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement +MONDO:0000465 atrioventricular block skos:narrowMatch ICD10CM:I44.39 Other atrioventricular block semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym atrioventricular block semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C35527 Familial Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dystonia +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans +MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C35527 Familial Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dystonia -MONDO:0000476 generalized dystonia skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000476 generalized dystonia skos:closeMatch NCIT:C157577 Dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000481 cervical dystonia skos:closeMatch NCIT:C85072 Spasmodic Torticollis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spasmodic torticollis -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid neuroskeletal syndrome MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:exactMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pagetoid neuroskeletal syndrome MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833662 MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 MONDO:0000594 pervasive developmental disorder skos:closeMatch Orphanet:168778 Rare pervasive developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002659 MONDO:0000598 aphasia skos:exactMatch NCIT:C34393 Aphasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aphasia MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 MONDO:0000607 primary cutaneous T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 +MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gouty nephropathy, familial juvenile MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy -MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial juvenile hyperuricemic nephropathy MONDO:0000608 familial juvenile hyperuricemic nephropathy skos:exactMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial juvenile hyperuricemic nephropathy -MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cns pnet MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor +MONDO:0000640 central nervous system primitive neuroectodermal neoplasm skos:exactMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cns pnet MONDO:0000644 cervical benign neoplasm skos:narrowMatch ICD10CM:D26.0 Other benign neoplasm of cervix uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym benign neoplasm of cervix uteri semapv:RegularExpressionReplacement MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053865 MONDO:0000645 fallopian tube benign neoplasm skos:closeMatch Orphanet:180237 Benign tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346190 MONDO:0000678 simultanagnosia skos:exactMatch NCIT:C84395 Simultanagnosia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label simultanagnosia MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 MONDO:0000687 diffuse alopecia areata skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 -MONDO:0000694 seasonal affective disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seasonal affective disorder MONDO:0000694 seasonal affective disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seasonal affective disorder +MONDO:0000694 seasonal affective disorder skos:exactMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seasonal affective disorder MONDO:0000702 microscopic colitis skos:narrowMatch ICD10CM:K52.838 Other microscopic colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym microscopic colitis semapv:RegularExpressionReplacement MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C180523 Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection MONDO:0000709 Crohn ileitis skos:closeMatch NCIT:C84782 Ileitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileitis MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 -MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly +MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0000722 non-syndromic synpolydactyly skos:closeMatch NCIT:C75003 Synpolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly MONDO:0000723 stutter disorder skos:exactMatch OMIM:184450 stuttering, familial persistent, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym stammering MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10CM:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement MONDO:0000726 idiopathic scoliosis skos:narrowMatch ICD10WHO:M41.2 Other idiopathic scoliosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic scoliosis semapv:RegularExpressionReplacement -MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033377 MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005745 MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001763 +MONDO:0000728 ptosis skos:closeMatch Orphanet:98578 Rare disorder with ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033377 MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome MONDO:0000734 Ohdo syndrome and variants skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome @@ -199,71 +199,71 @@ MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura MONDO:0000809 purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cavernous angiomatous malformations MONDO:0000820 cerebral cavernous malformation skos:exactMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral capillary malformations -MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039447 MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036117 +MONDO:0000827 salmonellosis skos:closeMatch Orphanet:795 Rare form of salmonellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039447 MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C27083 Blood Clot semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label blood clot -MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder semapv:RegularExpressionReplacement MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thrombotic disorder -MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 +MONDO:0000831 thrombotic disease skos:exactMatch NCIT:C180553 Thrombotic Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thrombotic disorder semapv:RegularExpressionReplacement MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016664 MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 +MONDO:0000845 fibrous dysplasia skos:closeMatch Orphanet:249 Fibrous dysplasia of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005357 MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 -MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536101 +MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia MONDO:0000874 T-cell childhood lymphoblastic lymphoma skos:exactMatch NCIT:C6919 T Lymphoblastic Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t lymphoblastic lymphoma MONDO:0000888 gastrointestinal mucositis skos:closeMatch NCIT:C115965 Mucositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucositis -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with neuronopathy -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218000 -MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795950 -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834570 -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch Orphanet:1496 Corpus callosum agenesis-neuronopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536446 +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy skos:closeMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with neuronopathy MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary essential myoclonus MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 -MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-responsive dystonia +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536096 +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834570 +MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonic dystonia MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonus-dystonia syndrome +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-responsive dystonia MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-dystonia syndrome -MONDO:0000903 myoclonus-dystonia syndrome skos:exactMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonic dystonia -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000903 myoclonus-dystonia syndrome skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615616 MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 skos:exactMatch NCIT:C176008 Familial Arrhythmogenic Right Ventricular Dysplasia 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 +MONDO:0000909 Bartter disease type 4B skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613090 MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch OMIM:312612 retinitis pigmentosa 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, x-linked recessive, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000910 retinitis pigmentosa 6 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312612 -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600792 +MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 skos:closeMatch OMIM:600792 deafness, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch OMIM:616649 spherocytosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0000913 hereditary spherocytosis type 2 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616649 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751587 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065551 -MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125310 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046589 -MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label venous insufficiency +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125310 +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065551 +MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 skos:closeMatch Orphanet:136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751587 MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label venous insufficiency +MONDO:0000945 venous insufficiency skos:exactMatch NCIT:C127822 Venous Insufficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label venous insufficiency MONDO:0000946 psychologic vaginismus skos:exactMatch NCIT:C35113 Psychogenic Vaginismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psychogenic vaginismus MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder semapv:RegularExpressionReplacement MONDO:0000992 heart conduction disease skos:exactMatch NCIT:C78245 Cardiac Conduction Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cardiac conduction disorder MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 -MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym normokalemic periodic paralysis -MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis -MONDO:0000995 familial periodic paralysis skos:closeMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis MONDO:0000995 familial periodic paralysis skos:closeMatch Orphanet:371433 Genetic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch NCIT:C122791 Normokalemic Periodic Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label normokalemic periodic paralysis +MONDO:0000995 familial periodic paralysis skos:closeMatch OMIM:170600 normokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym normokalemic periodic paralysis MONDO:0001011 breast cyst skos:exactMatch NCIT:C5315 Breast Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast cyst MONDO:0001029 Klippel-Feil syndrome skos:exactMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym klippel-feil sequence +MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal atresia MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0001044 esophageal atresia skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 -MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal atresia MONDO:0001044 esophageal atresia skos:exactMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label esophageal atresia MONDO:0001045 intestinal atresia skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 MONDO:0001046 imperforate anus skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301800 @@ -272,12 +272,12 @@ MONDO:0001046 imperforate anus skos:closeMatch NCIT:C78173 Anal Stenosis semapv: MONDO:0001048 orbital granuloma skos:exactMatch NCIT:C3653 Orbital Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orbital granuloma MONDO:0001056 gastric cancer skos:closeMatch OMIM:613659 gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cancer, intestinal MONDO:0001061 pylorus cancer skos:exactMatch NCIT:C188051 Malignant Pylorus Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant pylorus neoplasm -MONDO:0001071 intellectual disability skos:closeMatch NCIT:C84392 Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation MONDO:0001071 intellectual disability skos:narrowMatch ICD10CM:F78 Other intellectual disabilities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym intellectual disabilities semapv:RegularExpressionReplacement -MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi renotubular syndrome -MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult fanconi syndrome +MONDO:0001071 intellectual disability skos:closeMatch NCIT:C84392 Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult fanconi syndrome MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephropathic cystinosis +MONDO:0001083 Fanconi renotubular syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi renotubular syndrome +MONDO:0001083 Fanconi renotubular syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult fanconi syndrome MONDO:0001095 mediastinum neuroblastoma skos:closeMatch NCIT:C6628 Mediastinal Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mediastinal neuroblastoma MONDO:0001103 giardiasis skos:closeMatch NCIT:C77213 Giardia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giardia MONDO:0001105 renal hypertension skos:exactMatch NCIT:C3121 Renal Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal hypertension @@ -293,40 +293,40 @@ MONDO:0001147 meningocele skos:closeMatch NCIT:C101209 Spinal Meningocele semapv MONDO:0001150 hydrocephalus skos:narrowMatch ICD10WHO:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement MONDO:0001150 hydrocephalus skos:narrowMatch ICD10CM:G91.8 Other hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocephalus semapv:RegularExpressionReplacement MONDO:0001150 hydrocephalus skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydrocephalus, x-linked -MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign essential hypertension MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign essential hypertension +MONDO:0001151 benign essential hypertension skos:exactMatch NCIT:C3656 Benign Essential Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign essential hypertension MONDO:0001152 amnestic disorder skos:exactMatch NCIT:C2867 Amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amnesia -MONDO:0001152 amnestic disorder skos:narrowMatch ICD10CM:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement MONDO:0001152 amnestic disorder skos:narrowMatch ICD10WHO:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement +MONDO:0001152 amnestic disorder skos:narrowMatch ICD10CM:R41.3 Other amnesia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amnesia semapv:RegularExpressionReplacement MONDO:0001170 hemiplegia skos:exactMatch NCIT:C64329 Hemiplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemiplegia MONDO:0001172 salpingo-oophoritis skos:exactMatch NCIT:C126462 Tubo-Ovarian Abscess semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubo-ovarian abscess -MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 -MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 +MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 +MONDO:0001177 anorectal stricture skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0001179 pinguecula skos:exactMatch NCIT:C129468 Pinguecula semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pinguecula MONDO:0001198 acquired thrombocytopenia skos:narrowMatch ICD10CM:D69.59 Other secondary thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary thrombocytopenia semapv:RegularExpressionReplacement -MONDO:0001200 secondary hypertension skos:exactMatch NCIT:C3657 Secondary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension MONDO:0001200 secondary hypertension skos:narrowMatch ICD10WHO:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement +MONDO:0001200 secondary hypertension skos:exactMatch NCIT:C3657 Secondary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label secondary hypertension MONDO:0001200 secondary hypertension skos:narrowMatch ICD10CM:I15.8 Other secondary hypertension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary hypertension semapv:RegularExpressionReplacement MONDO:0001210 enophthalmos skos:exactMatch NCIT:C79552 Enophthalmos semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label enophthalmos MONDO:0001210 enophthalmos skos:exactMatch NCIT:C79552 Enophthalmos semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label enophthalmos MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10WHO:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement MONDO:0001214 acute conjunctivitis skos:narrowMatch ICD10CM:H10.2 Other acute conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute conjunctivitis semapv:RegularExpressionReplacement MONDO:0001216 pulp degeneration skos:exactMatch NCIT:C34962 Pulp Degeneration semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulp degeneration -MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10CM:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10WHO:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement +MONDO:0001220 hypoparathyroidism skos:narrowMatch ICD10CM:E20.8 Other hypoparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoparathyroidism semapv:RegularExpressionReplacement MONDO:0001243 disseminated intravascular coagulation skos:exactMatch NCIT:C131658 Consumptive Coagulopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label consumptive coagulopathy -MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flea-borne typhus -MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label endemic typhus fever MONDO:0001246 typhus skos:closeMatch Orphanet:83315 Murine typhus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine typhus -MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334533 +MONDO:0001246 typhus skos:closeMatch NCIT:C84689 Epidemic Louse-Borne Typhus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epidemic louse-borne typhus +MONDO:0001246 typhus skos:closeMatch NCIT:C84688 Endemic Typhus Fever semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label endemic typhus fever MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001165 +MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch Orphanet:211266 Rare arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334533 MONDO:0001260 cercarial dermatitis skos:exactMatch NCIT:C34457 Cutaneous Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cutaneous schistosomiasis -MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gingival recession +MONDO:0001268 gingival recession skos:exactMatch NCIT:C82068 Gingival Recession semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gingival recession MONDO:0001273 megacolon skos:narrowMatch ICD10CM:K59.39 Other megacolon semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym megacolon semapv:RegularExpressionReplacement MONDO:0001275 spinal meningioma skos:exactMatch NCIT:C5134 Spinal Meningioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal meningioma MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 @@ -334,53 +334,53 @@ MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis sema MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 MONDO:0001280 choroiditis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis MONDO:0001280 choroiditis skos:closeMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior uveitis -MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endosalpingiosis MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label endosalpingiosis +MONDO:0001283 endosalpingiosis skos:exactMatch NCIT:C179646 Endosalpingiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label endosalpingiosis MONDO:0001292 autonomic nervous system disorder skos:closeMatch NCIT:C53439 Dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dysautonomia MONDO:0001295 idiopathic peripheral autonomic neuropathy skos:narrowMatch ICD10CM:G90.09 Other idiopathic peripheral autonomic neuropathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym idiopathic peripheral autonomic neuropathy semapv:RegularExpressionReplacement MONDO:0001298 congenital mitral valve insufficiency skos:closeMatch NCIT:C50888 Mitral Valve Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve insufficiency -MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001302 hypertensive heart disease skos:closeMatch NCIT:C4907 Hypertensive Cardiomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertensive cardiomegaly MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0001302 hypertensive heart disease skos:exactMatch NCIT:C157879 Hypertensive Heart Disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertensive heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10WHO:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement MONDO:0001314 chondrocalcinosis skos:narrowMatch ICD10CM:M11.2 Other chondrocalcinosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chondrocalcinosis semapv:RegularExpressionReplacement MONDO:0001315 neurocirculatory asthenia skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurocirculatory asthenia MONDO:0001323 infant gynecomastia skos:exactMatch NCIT:C117312 Breast Engorgement in Newborn semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast engorgement in newborn +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh resistance +MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid hormone resistance syndrome MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroid hormone resistance syndrome MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyroid stimulating hormone MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C131816 Generalized Thyroid Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized thyroid hormone resistance -MONDO:0001328 thyroid hormone resistance syndrome skos:exactMatch NCIT:C85191 Thyroid Hormone Resistance Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid hormone resistance syndrome -MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh resistance -MONDO:0001328 thyroid hormone resistance syndrome skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0001336 familial hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 MONDO:0001339 portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064087 +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym landouzy-dejerine muscular dystrophy -MONDO:0001347 facioscapulohumeral muscular dystrophy skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym facioscapulohumeral muscular dystrophy +MONDO:0001347 facioscapulohumeral muscular dystrophy skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064087 MONDO:0001383 degenerative myopia skos:exactMatch NCIT:C157149 Pathological Myopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pathological myopia -MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopia +MONDO:0001384 myopia skos:exactMatch NCIT:C102533 Myopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myopia MONDO:0001384 myopia skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027092 MONDO:0001406 peripheral nervous system neoplasm skos:closeMatch NCIT:C4972 Nerve Sheath Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nerve sheath neoplasm +MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001409 esophagitis skos:closeMatch NCIT:C97066 Acute Esophagitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute esophagitis -MONDO:0001409 esophagitis skos:narrowMatch ICD10CM:K20.8 Other esophagitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym esophagitis semapv:RegularExpressionReplacement MONDO:0001414 osteopoikilosis skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopathia condensans disseminata MONDO:0001422 primary aldosteronism skos:narrowMatch ICD10CM:E26.09 Other primary hyperaldosteronism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0001441 pica disease skos:exactMatch NCIT:C71234 Pica semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pica +MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041234 MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label american trypanosomiasis MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001935 -MONDO:0001444 Chagas disease skos:closeMatch Orphanet:3386 American trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041234 MONDO:0001466 punctate epithelial keratoconjunctivitis skos:exactMatch Orphanet:519406 Thygeson superficial punctate keratitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thygeson superficial punctate keratitis MONDO:0001475 neutropenia skos:narrowMatch ICD10CM:D70.8 Other neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neutropenia semapv:RegularExpressionReplacement MONDO:0001475 neutropenia skos:narrowMatch ICD10CM:D70.8 Other neutropenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neutropenia semapv:RegularExpressionReplacement MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neutropenia MONDO:0001475 neutropenia skos:exactMatch NCIT:C80520 Neutropenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neutropenia -MONDO:0001476 coloboma skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula MONDO:0001476 coloboma skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym coloboma of macula +MONDO:0001476 coloboma skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label coloboma of macula MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34352 Acute Alcoholic Hepatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute alcoholic hepatitis MONDO:0001505 alcoholic hepatitis skos:exactMatch NCIT:C34352 Acute Alcoholic Hepatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute alcoholic hepatitis MONDO:0001515 corneal degeneration skos:narrowMatch ICD10CM:H18.49 Other corneal degeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym corneal degeneration semapv:RegularExpressionReplacement @@ -391,25 +391,25 @@ MONDO:0001540 bagassosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:L MONDO:0001553 phacolytic glaucoma skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152137 MONDO:0001556 urethral obstruction skos:exactMatch NCIT:C79804 Urethral Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label urethral obstruction MONDO:0001556 urethral obstruction skos:exactMatch NCIT:C79804 Urethral Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urethral obstruction -MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10WHO:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10CM:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement +MONDO:0001557 olecranon bursitis skos:narrowMatch ICD10WHO:M70.3 Other bursitis of elbow semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bursitis of elbow semapv:RegularExpressionReplacement MONDO:0001560 hypertrophic pyloric stenosis skos:exactMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyloric stenosis, infantile -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 +MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 -MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 +MONDO:0001569 acoustic neuroma skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056886 MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch NCIT:C61261 Hurler Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome -MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056886 +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hurler syndrome +MONDO:0001586 mucopolysaccharidosis type 1 skos:closeMatch OMIM:607014 hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hurler syndrome MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0001595 choreatic disease skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 -MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bch MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chorea, benign hereditary -MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary progressive chorea without dementia MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chorea, benign hereditary +MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary progressive chorea without dementia +MONDO:0001595 choreatic disease skos:closeMatch OMIM:118700 chorea, benign hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bch MONDO:0001596 hypochondriasis skos:exactMatch NCIT:C9493 Hypochondriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypochondriasis MONDO:0001598 benign lymphoepithelial lesion of salivary gland skos:closeMatch NCIT:C3949 Benign Lymphoepithelial Lesion of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign lymphoepithelial lesion of the salivary gland MONDO:0001600 mucocele of salivary gland skos:exactMatch NCIT:C27649 Salivary Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label salivary cyst @@ -417,14 +417,14 @@ MONDO:0001609 agranulocytosis skos:exactMatch NCIT:C107102 Agranulocytosis semap MONDO:0001625 corpus luteum cyst skos:exactMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label corpus luteum cyst MONDO:0001639 deficiency anemia skos:closeMatch Orphanet:248293 Rare deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041782 MONDO:0001646 benign secondary hypertension skos:exactMatch NCIT:C3658 Benign Secondary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign secondary hypertension -MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm MONDO:0001657 brain cancer skos:closeMatch NCIT:C170814 Primary Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary brain neoplasm +MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm MONDO:0001658 nontoxic goiter skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym euthyroid goiter -MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement +MONDO:0001658 nontoxic goiter skos:narrowMatch ICD10CM:E04 Other nontoxic goiter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym nontoxic goiter semapv:RegularExpressionReplacement +MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 MONDO:0001676 erythropoietic protoporphyria skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046351 -MONDO:0001676 erythropoietic protoporphyria skos:exactMatch NCIT:C84698 Erythropoietic Protoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label erythropoietic protoporphyria MONDO:0001684 exocrine pancreatic insufficiency skos:closeMatch NCIT:C84316 Pancreatic Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic insufficiency MONDO:0001698 tinea profunda skos:closeMatch NCIT:C35073 Deep Seated Dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deep seated dermatophytosis MONDO:0001703 color vision disorder skos:closeMatch NCIT:C3891 Color Blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label color blindness @@ -433,17 +433,17 @@ MONDO:0001713 inherited aplastic anemia skos:closeMatch Orphanet:68383 Rare cons MONDO:0001713 inherited aplastic anemia skos:narrowMatch ICD10CM:D61.09 Other constitutional aplastic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym constitutional aplastic anemia semapv:RegularExpressionReplacement MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement MONDO:0001718 scleritis skos:narrowMatch ICD10CM:H15.09 Other scleritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym scleritis semapv:RegularExpressionReplacement -MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberose sclerosis +MONDO:0001734 tuberous sclerosis skos:exactMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tuberous sclerosis complex +MONDO:0001734 tuberous sclerosis skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex -MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045138 -MONDO:0001734 tuberous sclerosis skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 -MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001734 tuberous sclerosis skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014402 MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement -MONDO:0001741 hyperparathyroidism skos:closeMatch Orphanet:181408 Rare hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020502 +MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10CM:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement +MONDO:0001741 hyperparathyroidism skos:closeMatch Orphanet:181408 Rare hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020502 MONDO:0001741 hyperparathyroidism skos:narrowMatch ICD10WHO:E21.2 Other hyperparathyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperparathyroidism semapv:RegularExpressionReplacement MONDO:0001744 angle-closure glaucoma skos:exactMatch NCIT:C34639 Angle Closure Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label angle closure glaucoma MONDO:0001751 cholestasis skos:exactMatch NCIT:C83006 Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholestasis @@ -457,20 +457,20 @@ MONDO:0001833 lacrimal duct obstruction skos:exactMatch NCIT:C34757 Lacrimal Duc MONDO:0001870 acute poststreptococcal glomerulonephritis skos:closeMatch NCIT:C35443 Post-Streptococcal Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post-streptococcal glomerulonephritis MONDO:0001874 toxic labyrinthitis skos:closeMatch NCIT:C66929 Ototoxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ototoxicity MONDO:0001875 epicondylitis skos:exactMatch NCIT:C35067 Lateral Epicondylitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lateral epicondylitis -MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10CM:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10WHO:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement +MONDO:0001889 ovarian dysfunction skos:narrowMatch ICD10CM:E28.8 Other ovarian dysfunction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ovarian dysfunction semapv:RegularExpressionReplacement MONDO:0001898 optic choroid disorder skos:closeMatch NCIT:C34468 Choroid Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid disorder semapv:RegularExpressionReplacement -MONDO:0001901 selective IgG subclass deficiency skos:closeMatch NCIT:C27142 Selective IgG Immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label selective igg immunodeficiency MONDO:0001901 selective IgG subclass deficiency skos:exactMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym selective igg subclass deficiency +MONDO:0001901 selective IgG subclass deficiency skos:closeMatch NCIT:C27142 Selective IgG Immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label selective igg immunodeficiency MONDO:0001907 adult dermatomyositis skos:exactMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult dermatomyositis MONDO:0001909 renal tubular acidosis skos:exactMatch NCIT:C28129 Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular acidosis MONDO:0001911 tracheal calcification skos:exactMatch NCIT:C35314 Tracheal Calcification semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tracheal calcification MONDO:0001913 oligospermia skos:exactMatch NCIT:C34860 Oligospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligospermia MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement -MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement -MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10WHO:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement +MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement +MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3 Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001920 chronic purulent otitis media skos:narrowMatch ICD10CM:H66.3X Other chronic suppurative otitis media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic suppurative otitis media semapv:RegularExpressionReplacement MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0001939 skin epithelioid hemangioma skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 @@ -479,26 +479,26 @@ MONDO:0001945 postencephalitic Parkinson disease skos:closeMatch Orphanet:97349 MONDO:0001952 parietal lobe cancer skos:closeMatch NCIT:C5573 Parietal Lobe Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal lobe neoplasm MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pyuria MONDO:0001953 pyuria skos:exactMatch NCIT:C119028 Pyuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pyuria -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343084 -MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 +MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343084 MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019559 -MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016221 +MONDO:0001956 capillary leak syndrome skos:closeMatch Orphanet:188 Systemic capillary leak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007196 MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015634 -MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0001971 farmer's lung disease skos:closeMatch Orphanet:99906 Farmer's lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016221 MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0001982 Niemann-Pick disease skos:exactMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sphingomyelin lipidosis MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary pulmonary hypertension MONDO:0001999 primary pulmonary hypertension skos:exactMatch NCIT:C168400 Primary Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary pulmonary hypertension -MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label opitz-kaveggia syndrome -MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fg syndrome MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keller syndrome -MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum +MONDO:0002010 FG syndrome skos:exactMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fg syndrome +MONDO:0002010 FG syndrome skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome MONDO:0002010 FG syndrome skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002012 methylmalonic acidemia skos:closeMatch NCIT:C148366 Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency -MONDO:0002012 methylmalonic acidemia skos:closeMatch OMIM:251000 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label methylmalonic aciduria due to methylmalonyl-coa mutase deficiency MONDO:0002016 benign familial neonatal epilepsy skos:exactMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign familial neonatal epilepsy MONDO:0002017 olivopontocerebellar atrophy skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wadia-swami syndrome MONDO:0002026 candidiasis skos:closeMatch NCIT:C116812 Disseminated Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label disseminated candidiasis @@ -506,31 +506,31 @@ MONDO:0002037 pleural disorder skos:closeMatch NCIT:C27563 Non-Neoplastic Pleura MONDO:0002038 head and neck carcinoma skos:exactMatch NCIT:C6077 Neck Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neck carcinoma MONDO:0002039 cognitive disorder skos:closeMatch NCIT:C34870 Organic Mental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic mental disorder MONDO:0002041 fungal infectious disease skos:closeMatch NCIT:C3245 Fungal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fungal infection -MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence +MONDO:0002046 alcohol abuse skos:closeMatch NCIT:C93040 Alcohol Dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence +MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcoholism -MONDO:0002046 alcohol abuse skos:closeMatch NCIT:C93040 Alcohol Dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alcohol abuse -MONDO:0002046 alcohol abuse skos:exactMatch NCIT:C20701 Alcohol Abuse semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label alcohol abuse +MONDO:0002046 alcohol abuse skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence MONDO:0002050 depressive disorder skos:exactMatch NCIT:C124639 Depression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label depression MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis -MONDO:0002073 malignant pineal area germ cell neoplasm skos:closeMatch NCIT:C8712 Pineal Region Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal region germinoma MONDO:0002073 malignant pineal area germ cell neoplasm skos:exactMatch NCIT:C4659 Pineal Region Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pineal region germ cell tumor +MONDO:0002073 malignant pineal area germ cell neoplasm skos:closeMatch NCIT:C8712 Pineal Region Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal region germinoma MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002076 pneumothorax skos:narrowMatch ICD10CM:J93.83 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002076 pneumothorax skos:narrowMatch ICD10WHO:J93.8 Other pneumothorax semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pneumothorax semapv:RegularExpressionReplacement MONDO:0002081 musculoskeletal system disorder skos:closeMatch NCIT:C107377 Musculoskeletal Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label musculoskeletal disorder MONDO:0002087 peritoneum cancer skos:closeMatch NCIT:C3322 Peritoneal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peritoneal neoplasm -MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm +MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma MONDO:0002096 malignant conjunctival melanoma skos:closeMatch Orphanet:617910 Conjunctival malignant melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346360 -MONDO:0002113 peritoneal carcinoma skos:closeMatch NCIT:C40022 Primary Peritoneal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma MONDO:0002113 peritoneal carcinoma skos:closeMatch Orphanet:168829 Primary peritoneal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma +MONDO:0002113 peritoneal carcinoma skos:closeMatch NCIT:C40022 Primary Peritoneal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary peritoneal carcinoma MONDO:0002125 status epilepticus skos:narrowMatch ICD10WHO:G41.8 Other status epilepticus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym status epilepticus semapv:RegularExpressionReplacement -MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement +MONDO:0002127 urethral stricture skos:narrowMatch ICD10CM:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002127 urethral stricture skos:narrowMatch ICD10WHO:N35.8 Other urethral stricture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethral stricture semapv:RegularExpressionReplacement MONDO:0002132 skull cancer skos:exactMatch NCIT:C155790 Malignant Skull Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant skull neoplasm @@ -541,15 +541,15 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma skos:closeMatch Orphanet:2023 MONDO:0002143 vaginal yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0002143 vaginal yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070597 +MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C45908 Intersex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intersex MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 MONDO:0002145 disorder of sexual differentiation skos:closeMatch Orphanet:90771 Disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012734 -MONDO:0002145 disorder of sexual differentiation skos:exactMatch NCIT:C45908 Intersex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intersex +MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35152 Acute Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute cholecystitis +MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35578 Acalculous Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acalculous cholecystitis MONDO:0002155 cholecystitis skos:narrowMatch ICD10WHO:K81.8 Other cholecystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholecystitis semapv:RegularExpressionReplacement -MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis -MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35152 Acute Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute cholecystitis -MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025915 MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153579 +MONDO:0002158 fallopian tube cancer skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025915 MONDO:0002169 rectum adenocarcinoma skos:closeMatch NCIT:C48222 Read semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label read MONDO:0002171 giant cell tumor skos:exactMatch NCIT:C7069 Giant Cell Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label giant cell neoplasm MONDO:0002177 hyperinsulinism skos:exactMatch NCIT:C113104 Hyperinsulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperinsulinemia @@ -559,24 +559,24 @@ MONDO:0002211 B cell deficiency skos:closeMatch NCIT:C27141 Immunoglobulin Heavy MONDO:0002211 B cell deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deficiency MONDO:0002218 temporal lobe cancer skos:closeMatch NCIT:C5567 Temporal Lobe Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temporal lobe neoplasm MONDO:0002241 factor XIII deficiency skos:exactMatch NCIT:C131633 Factor XIII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor xiii deficiency -MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym f7 deficiency MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002244 factor VII deficiency skos:exactMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym f7 deficiency MONDO:0002244 factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015503 -MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor vii deficiency MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label factor vii deficiency +MONDO:0002244 factor VII deficiency skos:exactMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label factor vii deficiency MONDO:0002249 thrombocytosis disease skos:closeMatch NCIT:C35530 Thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytosis MONDO:0002251 hepatitis skos:closeMatch NCIT:C35331 Acute Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatitis MONDO:0002251 hepatitis skos:closeMatch NCIT:C82978 Chronic Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic hepatitis -MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.89 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement -MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement -MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement +MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.1 Other spondylosis with myelopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym spondylosis with myelopathy semapv:RegularExpressionReplacement +MONDO:0002253 spondylosis skos:narrowMatch ICD10CM:M47.89 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement +MONDO:0002253 spondylosis skos:narrowMatch ICD10WHO:M47.8 Other spondylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym spondylosis semapv:RegularExpressionReplacement MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ankylosis MONDO:0002257 ankylosis skos:exactMatch NCIT:C171941 Ankylosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankylosis -MONDO:0002258 pharyngitis skos:exactMatch NCIT:C50747 Sore Throat semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sore throat MONDO:0002258 pharyngitis skos:closeMatch NCIT:C34355 Acute Pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pharyngitis +MONDO:0002258 pharyngitis skos:exactMatch NCIT:C50747 Sore Throat semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sore throat MONDO:0002260 hidradenitis skos:exactMatch NCIT:C112190 Hidradenitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym capillary lymphangioma MONDO:0002262 capillary lymphangioma skos:exactMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym capillary lymphangioma @@ -598,53 +598,53 @@ MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothe MONDO:0002373 benign mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 MONDO:0002378 dermoid cyst skos:exactMatch NCIT:C25723 Dermoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermoid MONDO:0002380 myoepithelial tumor skos:closeMatch NCIT:C7442 Benign Myoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign myoepithelioma -MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lias MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lias +MONDO:0002387 liver angiosarcoma skos:closeMatch OMIM:607031 LIAS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lias MONDO:0002405 hepatic vascular disorder skos:closeMatch Orphanet:101938 Rare vascular liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0400923 MONDO:0002406 dermatitis skos:narrowMatch ICD10WHO:L30 Other dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatitis semapv:RegularExpressionReplacement MONDO:0002407 capillary hemangioma skos:closeMatch NCIT:C6645 Infantile Hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile hemangioma -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017919 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 -MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006008 +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061990 +MONDO:0002412 disorder of glycogen metabolism skos:closeMatch Orphanet:79201 Glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017919 MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002413 glycogen storage disease I skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0002413 glycogen storage disease I skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018464 -MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102660 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367554 MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 +MONDO:0002422 adamantinoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050398 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 -MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2350236 MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054988 -MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 +MONDO:0002429 idiopathic interstitial pneumonia skos:closeMatch Orphanet:98300 Idiopathic interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2350236 MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 +MONDO:0002438 acquired polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029593 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022387 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057936 MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057936 -MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jervell and lange-nielsen syndrome type 1 semapv:RegularExpressionReplacement MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bruxism MONDO:0002443 bruxism skos:exactMatch NCIT:C73511 Bruxism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bruxism -MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265241 MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 +MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265241 MONDO:0002457 Treacher-Collins syndrome skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome MONDO:0002457 Treacher-Collins syndrome skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0002457 Treacher-Collins syndrome skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 -MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015432 -MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tay syndrome +MONDO:0002461 membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017662 MONDO:0002470 photosensitive trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 +MONDO:0002470 photosensitive trichothiodystrophy skos:exactMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tay syndrome MONDO:0002473 cystic kidney disease skos:exactMatch NCIT:C3970 Kidney Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney cyst MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020501 MONDO:0002474 primary hyperoxaluria skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020703 @@ -658,60 +658,60 @@ MONDO:0002492 acute kidney failure skos:narrowMatch ICD10CM:N17.8 Other acute ki MONDO:0002508 gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic gingivitis MONDO:0002512 papillary adenocarcinoma skos:closeMatch NCIT:C7438 Infiltrating Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating papillary adenocarcinoma MONDO:0002519 anus disorder skos:closeMatch NCIT:C79536 Anal Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal ulcer -MONDO:0002520 hepatic porphyria skos:closeMatch NCIT:C133887 Acute Hepatic Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria -MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alad deficiency -MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porphobilinogen synthase deficiency -MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor +MONDO:0002520 hepatic porphyria skos:closeMatch NCIT:C133887 Acute Hepatic Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria +MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute hepatic porphyria +MONDO:0002520 hepatic porphyria skos:exactMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tenosynovial giant cell tumor -MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154251 +MONDO:0002522 tenosynovial giant cell tumor skos:exactMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tenosynovial giant cell tumor MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061227 +MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch Orphanet:309005 Disorder of lipid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154251 MONDO:0002525 inherited lipid metabolism disorder skos:closeMatch NCIT:C117115 Fatty Acid Metabolism Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatty acid metabolism disorder MONDO:0002531 skin neoplasm skos:closeMatch NCIT:C12470 Skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin MONDO:0002533 papillary adenoma skos:closeMatch NCIT:C6880 Glandular Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glandular papilloma MONDO:0002543 adult oligodendroglioma skos:closeMatch NCIT:C9376 Adult Brain Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult brain oligodendroglioma -MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029234 MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027809 +MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029234 MONDO:0002546 schwannoma skos:closeMatch Orphanet:252164 Benign schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029235 MONDO:0002552 vascular myelopathy skos:narrowMatch ICD10CM:G95.19 Other vascular myelopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vascular myelopathies semapv:RegularExpressionReplacement MONDO:0002565 myelitis skos:narrowMatch ICD10CM:G04.89 Other myelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myelitis semapv:RegularExpressionReplacement -MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036685 +MONDO:0002571 primary central nervous system lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 MONDO:0002572 aspiration pneumonitis skos:closeMatch NCIT:C35316 Chemical Pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chemical pneumonitis MONDO:0002588 thymoma type A skos:closeMatch Orphanet:263310 Thymoma type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266091 -MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 +MONDO:0002598 germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 MONDO:0002601 teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label purpura MONDO:0002610 purpura skos:exactMatch NCIT:C78787 Purpura semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label purpura -MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031291 MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259500 -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disorder of the breast semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002629 bone osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031291 MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 MONDO:0002648 mammary Paget disease skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010144 +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paget disorder of the breast semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0002648 mammary Paget disease skos:exactMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mammary paget disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0002653 Paget disease of the penis skos:closeMatch Orphanet:398053 Adenocarcinoma of the penis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma of the penis MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 MONDO:0002655 cutaneous Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 MONDO:0002675 neurofibrosarcoma skos:exactMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurofibrosarcoma +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral infarction MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement +MONDO:0002679 cerebral infarction skos:narrowMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral infarction -MONDO:0002679 cerebral infarction skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cerebral infarction -MONDO:0002679 cerebral infarction skos:narrowMatch ICD10WHO:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral infarction semapv:RegularExpressionReplacement MONDO:0002684 atypical choroid plexus papilloma skos:closeMatch Orphanet:251902 Atypical papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266176 MONDO:0002687 superior mesenteric artery syndrome skos:closeMatch Orphanet:622099 Superior mesenteric artery syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilkie syndrome MONDO:0002688 duodenal obstruction skos:exactMatch NCIT:C79548 Duodenal Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label duodenal obstruction -MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer -MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liver cancer MONDO:0002691 liver cancer skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 +MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liver cancer +MONDO:0002691 liver cancer skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liver cancer MONDO:0002696 Sertoli cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 MONDO:0002697 ovarian gonadoblastoma skos:closeMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:424500 MONDO:0002720 sella turcica neoplasm skos:closeMatch OMIM:607912 SELENOT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selt @@ -736,19 +736,19 @@ MONDO:0002804 apocrine adenoma skos:closeMatch NCIT:C27527 Tubular Apocrine Aden MONDO:0002805 hidradenoma skos:closeMatch NCIT:C7560 Sweat Gland Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sweat gland adenoma MONDO:0002815 acute myocarditis skos:narrowMatch ICD10WHO:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement MONDO:0002815 acute myocarditis skos:narrowMatch ICD10CM:I40.8 Other acute myocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute myocarditis semapv:RegularExpressionReplacement -MONDO:0002822 trabecular adenocarcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym merkel cell carcinoma MONDO:0002822 trabecular adenocarcinoma skos:closeMatch NCIT:C9231 Merkel Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label merkel cell carcinoma +MONDO:0002822 trabecular adenocarcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym merkel cell carcinoma MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma skos:closeMatch NCIT:C68611 Sinonasal Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sinonasal squamous cell carcinoma -MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial transitional cell carcinoma +MONDO:0002832 endometrial transitional cell carcinoma skos:exactMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial transitional cell carcinoma MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm -MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch NCIT:C135212 Colon Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colon neuroendocrine tumor MONDO:0002882 colon neuroendocrine neoplasm skos:closeMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the colon -MONDO:0002897 secondary syphilis skos:narrowMatch ICD10CM:A51.4 Other secondary syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary syphilis semapv:RegularExpressionReplacement +MONDO:0002882 colon neuroendocrine neoplasm skos:exactMatch NCIT:C135212 Colon Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label colon neuroendocrine tumor MONDO:0002897 secondary syphilis skos:narrowMatch ICD10WHO:A51.4 Other secondary syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary syphilis semapv:RegularExpressionReplacement -MONDO:0002904 echolalia skos:exactMatch NCIT:C97166 Echolalia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echolalia +MONDO:0002897 secondary syphilis skos:narrowMatch ICD10CM:A51.4 Other secondary syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym secondary syphilis semapv:RegularExpressionReplacement MONDO:0002904 echolalia skos:exactMatch NCIT:C97166 Echolalia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label echolalia +MONDO:0002904 echolalia skos:exactMatch NCIT:C97166 Echolalia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echolalia MONDO:0002909 hyperglycemia skos:exactMatch NCIT:C26797 Hyperglycemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperglycemia MONDO:0002914 childhood brain stem neoplasm skos:exactMatch NCIT:C4869 Brain Stem Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain stem neoplasm MONDO:0002917 disorder of pilosebaceous unit skos:closeMatch NCIT:C34656 Hair Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hair disorder semapv:RegularExpressionReplacement @@ -763,25 +763,25 @@ MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non- MONDO:0002984 reticulohistiocytic granuloma skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0002999 central nervous system germinoma skos:closeMatch NCIT:C5430 Intracranial Germinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial germinoma MONDO:0002999 central nervous system germinoma skos:exactMatch Orphanet:91352 Germinoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germinoma of the central nervous system -MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminoma MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym seminoma +MONDO:0003001 seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seminoma MONDO:0003004 macular degeneration skos:exactMatch OMIM:607921 retinitis pigmentosa 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macular degeneration MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.89 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement -MONDO:0003009 hyperaldosteronism skos:exactMatch NCIT:C113213 Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism -MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10WHO:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement +MONDO:0003009 hyperaldosteronism skos:narrowMatch ICD10CM:E26.8 Other hyperaldosteronism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperaldosteronism semapv:RegularExpressionReplacement +MONDO:0003009 hyperaldosteronism skos:exactMatch NCIT:C113213 Hyperaldosteronism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperaldosteronism MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch NCIT:C4524 Multilocular Cystic Renal Neoplasm of Low Malignant Potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential MONDO:0003010 multilocular clear cell renal cell carcinoma skos:closeMatch Orphanet:319287 Multilocular cystic renal neoplasm of low malignant potential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multilocular cystic renal neoplasm of low malignant potential -MONDO:0003019 potassium deficiency disease skos:exactMatch NCIT:C37974 Hypokalemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypokalemia MONDO:0003019 potassium deficiency disease skos:closeMatch NCIT:C34939 Potassium Deficiency Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label potassium deficiency disorder +MONDO:0003019 potassium deficiency disease skos:exactMatch NCIT:C37974 Hypokalemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypokalemia MONDO:0003039 nominal aphasia skos:exactMatch NCIT:C34386 Anomia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anomia MONDO:0003040 retrograde amnesia skos:exactMatch NCIT:C34372 Retrograde Amnesia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retrograde amnesia -MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bile duct cancer -MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 +MONDO:0003059 bile duct cancer skos:exactMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bile duct cancer MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:101941 Rare biliary tract disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 -MONDO:0003085 keratitis skos:narrowMatch ICD10CM:H16.8 Other keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratitis semapv:RegularExpressionReplacement +MONDO:0003060 biliary tract cancer skos:closeMatch Orphanet:306633 Rare tumor of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0750952 MONDO:0003085 keratitis skos:narrowMatch ICD10WHO:H16.8 Other keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratitis semapv:RegularExpressionReplacement +MONDO:0003085 keratitis skos:narrowMatch ICD10CM:H16.8 Other keratitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratitis semapv:RegularExpressionReplacement MONDO:0003111 gastric neuroendocrine neoplasm skos:closeMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of stomach MONDO:0003117 somatoform disorder skos:closeMatch NCIT:C35186 Physiological Malfunction Arising from Mental Factor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label physiological malfunction arising from mental factor MONDO:0003120 mixed testicular germ cell cancer skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed germ cell tumor @@ -800,24 +800,24 @@ MONDO:0003233 essential tremor skos:exactMatch NCIT:C182453 Essential Tremor sem MONDO:0003240 thyroid gland disorder skos:closeMatch Orphanet:101955 Rare thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040128 MONDO:0003261 papillary meningioma of the cerebellum skos:closeMatch NCIT:C5270 Cerebellar Papillary Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar papillary meningioma MONDO:0003262 rhabdoid meningioma skos:closeMatch NCIT:C3904 Papillary Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillary meningioma +MONDO:0003282 ovarian cyst skos:closeMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus luteum cyst MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ovarian cyst MONDO:0003282 ovarian cyst skos:exactMatch NCIT:C3300 Ovarian Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian cyst -MONDO:0003282 ovarian cyst skos:closeMatch NCIT:C34516 Corpus Luteum Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus luteum cyst MONDO:0003307 multiple mucosal neuroma skos:closeMatch NCIT:C6559 Multiple Mucosal Neuromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mucosal neuromas -MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleural mesothelioma MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma +MONDO:0003308 pleural mesothelioma skos:exactMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pleural mesothelioma MONDO:0003319 scrotum neoplasm skos:closeMatch NCIT:C3560 Malignant Scrotal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant scrotal neoplasm MONDO:0003330 urinary tract obstruction skos:exactMatch NCIT:C79805 Urinary Tract Obstruction semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract obstruction -MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206702 MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 +MONDO:0003345 hilar cholangiocarcinoma skos:closeMatch Orphanet:99978 Klatskin tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018285 MONDO:0003346 central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0003346 central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 MONDO:0003360 small intestine leiomyosarcoma skos:closeMatch Orphanet:104076 Leiomyosarcoma of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0920305 MONDO:0003393 thymus gland disorder skos:closeMatch NCIT:C26962 Thymus Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thymus disorder MONDO:0003400 childhood endodermal sinus tumor skos:closeMatch NCIT:C27364 Childhood Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood yolk sac tumor -MONDO:0003402 testicular yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0003402 testicular yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor +MONDO:0003402 testicular yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0003406 sleep-wake disorder skos:closeMatch OMIM:612975 short sleep, familial natural, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short sleep phenotype MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 MONDO:0003406 sleep-wake disorder skos:closeMatch Orphanet:68354 Rare sleep disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012893 @@ -826,41 +826,41 @@ MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:Le MONDO:0003424 oncocytic adenoma skos:exactMatch OMIM:553000 oncocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oncocytoma MONDO:0003425 ophthalmoplegia skos:exactMatch NCIT:C79697 Ophthalmoplegia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ophthalmoplegia MONDO:0003429 functioning pituitary gland adenoma skos:closeMatch Orphanet:314753 Functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854486 -MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement -MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement -MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement -MONDO:0003441 dystonic disorder skos:narrowMatch ICD10CM:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement +MONDO:0003432 strabismus skos:narrowMatch ICD10WHO:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement +MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement +MONDO:0003432 strabismus skos:narrowMatch ICD10CM:H50 Other strabismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym strabismus semapv:RegularExpressionReplacement MONDO:0003441 dystonic disorder skos:narrowMatch ICD10WHO:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement +MONDO:0003441 dystonic disorder skos:narrowMatch ICD10CM:G24.8 Other dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dystonia semapv:RegularExpressionReplacement MONDO:0003487 pseudoglandular squamous cell carcinoma skos:closeMatch NCIT:C4200 Adenocarcinoma with Squamous Metaplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenocarcinoma with squamous metaplasia MONDO:0003499 sarcomatoid squamous cell skin carcinoma skos:exactMatch NCIT:C27084 Spindle Cell Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spindle cell squamous cell carcinoma MONDO:0003504 anal canal neuroendocrine neoplasm skos:closeMatch NCIT:C96540 Anal Canal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal canal neuroendocrine tumor MONDO:0003508 choriocarcinoma of testis skos:closeMatch NCIT:C2948 Choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choriocarcinoma -MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrinoma MONDO:0003523 gastrin-producing neuroendocrine tumor skos:closeMatch NCIT:C65188 Malignant Gastrinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant gastrinoma +MONDO:0003523 gastrin-producing neuroendocrine tumor skos:exactMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastrinoma MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0003531 papillary eccrine carcinoma skos:closeMatch NCIT:C27534 Digital Papillary Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital papillary adenocarcinoma -MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C4173 Papillary Eccrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papillary eccrine adenoma +MONDO:0003531 papillary eccrine carcinoma skos:exactMatch NCIT:C27527 Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma MONDO:0003532 breast papillary carcinoma skos:closeMatch NCIT:C6870 Breast Solid Papillary Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label breast solid papillary carcinoma MONDO:0003538 precursor lymphoblastic lymphoma/leukemia skos:exactMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym precursor lymphoid neoplasm MONDO:0003539 T-cell adult acute lymphocytic leukemia skos:exactMatch NCIT:C3183 T Acute Lymphoblastic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t acute lymphoblastic leukemia MONDO:0003540 acute T cell leukemia skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 MONDO:0003544 spinal cord cancer skos:closeMatch NCIT:C168693 Spinal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal neoplasm -MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma +MONDO:0003581 ovarian embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0003582 hereditary breast ovarian cancer syndrome skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0677776 MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label visual cortex disorder -MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder semapv:RegularExpressionReplacement MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder +MONDO:0003584 visual cortex disorder skos:exactMatch NCIT:C35275 Visual Cortex Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label visual cortex disorder semapv:RegularExpressionReplacement MONDO:0003604 functioning pituitary gland neoplasm skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma MONDO:0003608 optic atrophy skos:narrowMatch ICD10CM:H47.29 Other optic atrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym optic atrophy semapv:RegularExpressionReplacement MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease skos:closeMatch NCIT:C155952 Uterine Ligament Papillary Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterine ligament papillary cystadenoma MONDO:0003620 peripheral nervous system disorder skos:closeMatch NCIT:C119734 Peripheral Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label peripheral neuropathy MONDO:0003630 pancreatic serous cystadenocarcinoma skos:closeMatch Orphanet:424073 Serous cystadenocarcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335315 -MONDO:0003634 proteinuria skos:narrowMatch ICD10CM:R80.8 Other proteinuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym proteinuria semapv:RegularExpressionReplacement MONDO:0003634 proteinuria skos:exactMatch NCIT:C38012 Proteinuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proteinuria +MONDO:0003634 proteinuria skos:narrowMatch ICD10CM:R80.8 Other proteinuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym proteinuria semapv:RegularExpressionReplacement MONDO:0003649 esophageal neuroendocrine tumor skos:exactMatch NCIT:C5821 Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal neuroendocrine neoplasm MONDO:0003652 acute urate nephropathy skos:exactMatch NCIT:C123245 Uric Acid Urolithiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uric acid urolithiasis MONDO:0003655 cerebral lymphoma skos:closeMatch Orphanet:46135 Primary central nervous system lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0240803 @@ -874,29 +874,29 @@ MONDO:0003735 central nervous system immature teratoma skos:closeMatch NCIT:C428 MONDO:0003749 esophageal disorder skos:closeMatch NCIT:C26950 Esophageal Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal ulcer MONDO:0003761 leptomeningeal melanoma skos:exactMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant melanoma of meninges MONDO:0003766 thalamic cancer skos:closeMatch NCIT:C6221 Thalamic Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thalamic neoplasm -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398686 -MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immune deficiency disorder semapv:RegularExpressionReplacement MONDO:0003778 inborn error of immunity skos:closeMatch OMIM:242850 immune deficiency disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency disorder semapv:RegularExpressionReplacement MONDO:0003778 inborn error of immunity skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome +MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary immunodeficiency +MONDO:0003778 inborn error of immunity skos:closeMatch Orphanet:101997 Primary immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398686 MONDO:0003781 bronchitis skos:closeMatch NCIT:C26722 Chronic Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic bronchitis MONDO:0003781 bronchitis skos:closeMatch NCIT:C26932 Acute Bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute bronchitis MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphopenia MONDO:0003783 lymphopenia skos:exactMatch NCIT:C26823 Lymphopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphopenia MONDO:0003787 childhood testicular mixed germ cell cancer skos:closeMatch NCIT:C6542 Childhood Testicular Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood testicular mixed germ cell tumor -MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0879257 MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605074 +MONDO:0003789 hereditary papillary renal cell carcinoma skos:closeMatch Orphanet:47044 Hereditary papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0879257 MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant mixed müllerian tumor of the ovary MONDO:0003792 ovarian carcinosarcoma skos:closeMatch Orphanet:213512 Malignant mixed Müllerian tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392998 -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10WHO:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.8 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement -MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement -MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement +MONDO:0003799 conjunctivitis skos:narrowMatch ICD10CM:H10.89 Other conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym conjunctivitis semapv:RegularExpressionReplacement MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0003803 aortic valve disorder skos:exactMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement MONDO:0003805 malignant pericardial mesothelioma skos:closeMatch NCIT:C7632 Pericardial Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pericardial mesothelioma MONDO:0003820 mature ovarian teratoma skos:closeMatch NCIT:C9015 Mature Teratoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mature teratoma MONDO:0003837 TSH producing pituitary tumor skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh-oma @@ -908,26 +908,26 @@ MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9089 Small Size Pos MONDO:0003927 posterior uveal melanoma skos:closeMatch NCIT:C9090 Medium/Large Size Posterior Uveal Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label medium/large size posterior uveal melanoma MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 MONDO:0003939 muscle tissue disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 -MONDO:0003947 hyper-IgM syndrome skos:closeMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperimmunoglobulin m syndrome MONDO:0003947 hyper-IgM syndrome skos:exactMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyper-igm syndrome +MONDO:0003947 hyper-IgM syndrome skos:closeMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperimmunoglobulin m syndrome MONDO:0003953 pediatric CNS choriocarcinoma skos:exactMatch NCIT:C7012 Central Nervous System Choriocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system choriocarcinoma MONDO:0003954 angiokeratoma of Fordyce skos:exactMatch NCIT:C7752 Angiokeratoma of Fordyce semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angiokeratoma of fordyce +MONDO:0003964 myositis ossificans skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myositis ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva +MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 -MONDO:0003964 myositis ossificans skos:closeMatch OMIM:135100 fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva -MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva MONDO:0003964 myositis ossificans skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 -MONDO:0003964 myositis ossificans skos:closeMatch NCIT:C3040 Fibrodysplasia Ossificans Progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrodysplasia ossificans progressiva -MONDO:0003964 myositis ossificans skos:exactMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myositis ossificans progressiva MONDO:0003987 lung lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 MONDO:0003989 polyembryoma of the ovary skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyembryoma MONDO:0004026 skin tag skos:closeMatch NCIT:C3337 Fibroepithelial Polyp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibroepithelial polyp MONDO:0004035 glomangiomatosis skos:exactMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glomangiomatosis MONDO:0004041 urothelial papilloma skos:closeMatch OMIM:191840 PLAU semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upa +MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome +MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 MONDO:0004058 pancreatic cholera skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 -MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic cholera -MONDO:0004058 pancreatic cholera skos:exactMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wdha syndrome MONDO:0004063 intermediate cell type iris melanoma skos:closeMatch NCIT:C174506 Iris Mixed Cell Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris mixed cell melanoma MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris melanoma MONDO:0004064 iris melanoma skos:exactMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris melanoma @@ -937,8 +937,8 @@ MONDO:0004075 infiltrating lipoma skos:exactMatch NCIT:C7450 Intramuscular Lipom MONDO:0004094 multiple skull base meningioma skos:closeMatch NCIT:C5279 Multiple Skull Base Meningiomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple skull base meningiomas MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma skos:closeMatch Orphanet:284400 Small cell carcinoma of the bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell carcinoma of the bladder MONDO:0004127 lung occult adenocarcinoma skos:closeMatch NCIT:C6699 Occult Lung Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label occult lung adenocarcinoma -MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cloacogenic carcinoma MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cloacogenic carcinoma +MONDO:0004129 cloacogenic carcinoma skos:exactMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cloacogenic carcinoma MONDO:0004155 adult central nervous system embryonal carcinoma skos:exactMatch NCIT:C7010 Central Nervous System Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system embryonal carcinoma MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0004156 pancreatic mucinous cystadenocarcinoma skos:exactMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma @@ -952,34 +952,34 @@ MONDO:0004245 ependymal tumor of brain skos:closeMatch NCIT:C156462 Brain Ependy MONDO:0004253 intraductal breast papillomatosis skos:closeMatch NCIT:C5201 Breast Intraductal Papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast intraductal papillomatosis MONDO:0004255 Wolffian adnexal tumor skos:closeMatch NCIT:C40141 Wolffian Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolffian tumor MONDO:0004257 childhood central nervous system mixed germ cell tumor skos:exactMatch NCIT:C7016 Central Nervous System Mixed Germ Cell Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central nervous system mixed germ cell tumor -MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39825 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant with Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements +MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant skos:closeMatch NCIT:C39826 Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant without Heterologous Elements semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma skos:closeMatch Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335304 MONDO:0004288 scirrhous breast carcinoma skos:closeMatch NCIT:C7362 Breast Scirrhous Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast scirrhous carcinoma MONDO:0004334 non-functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning neuroendocrine tumor of pancreas -MONDO:0004380 dendritic cell sarcoma skos:closeMatch NCIT:C9281 Follicular Dendritic Cell Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label follicular dendritic cell sarcoma MONDO:0004380 dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label follicular dendritic cell sarcoma +MONDO:0004380 dendritic cell sarcoma skos:closeMatch NCIT:C9281 Follicular Dendritic Cell Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label follicular dendritic cell sarcoma MONDO:0004469 pseudovascular skin squamous cell carcinoma skos:closeMatch NCIT:C27542 Skin Pseudovascular Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin pseudovascular squamous cell carcinoma MONDO:0004473 epiglottis cancer skos:closeMatch NCIT:C35697 Epiglottic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epiglottic carcinoma MONDO:0004491 uterine corpus choriocarcinoma skos:closeMatch NCIT:C2948 Choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choriocarcinoma MONDO:0004512 meningeal melanomatosis skos:closeMatch Orphanet:252031 Diffuse leptomeningeal melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptomeningeal melanomatosis -MONDO:0004522 peritonitis skos:narrowMatch ICD10WHO:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement MONDO:0004522 peritonitis skos:narrowMatch ICD10CM:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement +MONDO:0004522 peritonitis skos:narrowMatch ICD10WHO:K65.8 Other peritonitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peritonitis semapv:RegularExpressionReplacement MONDO:0004526 mixed endometrial stromal and smooth muscle tumor skos:exactMatch NCIT:C40179 Uterine Corpus Soft Tissue Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uterine corpus soft tissue neoplasm -MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital granular cell tumor +MONDO:0004527 congenital granular cell tumor skos:exactMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital granular cell tumor MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant skos:closeMatch Orphanet:213833 Glassy cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glassy cell carcinoma of the cervix uteri MONDO:0004565 intestinal obstruction skos:narrowMatch ICD10CM:K56.69 Other intestinal obstruction semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym intestinal obstruction semapv:RegularExpressionReplacement -MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal volvulus MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal volvulus +MONDO:0004570 intestinal volvulus skos:exactMatch NCIT:C98963 Intestinal Volvulus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intestinal volvulus MONDO:0004573 ariboflavinosis skos:closeMatch Orphanet:411712 Maternal riboflavin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615026 MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch NCIT:C85221 Vitamin B6 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin b6 deficiency -MONDO:0004585 polyhydramnios skos:exactMatch NCIT:C92848 Polyhydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyhydramnios MONDO:0004585 polyhydramnios skos:exactMatch NCIT:C92848 Polyhydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyhydramnios +MONDO:0004585 polyhydramnios skos:exactMatch NCIT:C92848 Polyhydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polyhydramnios MONDO:0004587 hereditary night blindness skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 MONDO:0004587 hereditary night blindness skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 -MONDO:0004588 night blindness skos:narrowMatch ICD10CM:H53.69 Other night blindness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym night blindness semapv:RegularExpressionReplacement MONDO:0004588 night blindness skos:exactMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nyctalopia +MONDO:0004588 night blindness skos:narrowMatch ICD10CM:H53.69 Other night blindness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym night blindness semapv:RegularExpressionReplacement MONDO:0004592 impetigo skos:narrowMatch ICD10CM:L01.09 Other impetigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym impetigo semapv:RegularExpressionReplacement MONDO:0004596 cor pulmonale skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cor pulmonale MONDO:0004596 cor pulmonale skos:exactMatch NCIT:C34478 Cor Pulmonale semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cor pulmonale @@ -990,30 +990,30 @@ MONDO:0004608 oropharynx cancer skos:closeMatch NCIT:C9105 Oropharyngeal Carcino MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0004612 malignant histiocytosis skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 MONDO:0004631 tongue cancer skos:closeMatch NCIT:C4824 Tongue Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tongue carcinoma -MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement -MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement +MONDO:0004643 myeloid leukemia skos:narrowMatch ICD10CM:C92.Z Other myeloid leukemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym myeloid leukemia semapv:RegularExpressionReplacement MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement +MONDO:0004648 vascular dementia skos:narrowMatch ICD10WHO:F01.8 Other vascular dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vascular dementia semapv:RegularExpressionReplacement MONDO:0004652 bacterial pneumonia skos:narrowMatch ICD10WHO:J15.8 Other bacterial pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial pneumonia semapv:RegularExpressionReplacement MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative skos:closeMatch Orphanet:98824 Atypical chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054651 MONDO:0004658 breast carcinoma in situ skos:narrowMatch ICD10WHO:D05.7 Other carcinoma in situ of breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym carcinoma in situ of breast semapv:RegularExpressionReplacement -MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10WHO:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement -MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.49 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement +MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10CM:D69.49 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement +MONDO:0004680 primary thrombocytopenia skos:narrowMatch ICD10WHO:D69.4 Other primary thrombocytopenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary thrombocytopenia semapv:RegularExpressionReplacement +MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035154 MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537000 -MONDO:0004684 plantar fibromatosis skos:closeMatch Orphanet:199251 Ledderhose disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035154 MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C12230 Hard Palate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hard palate MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm MONDO:0004726 liver inflammatory myofibroblastic tumor skos:closeMatch Orphanet:90003 Inflammatory pseudotumor of the liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory pseudotumor of the liver +MONDO:0004731 central sleep apnea syndrome skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine syndrome +MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116046 Central Sleep Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central sleep apnea MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:107640 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep +MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116335 Central Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central apnea MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central -MONDO:0004731 central sleep apnea syndrome skos:closeMatch NCIT:C116046 Central Sleep Apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central sleep apnea -MONDO:0004731 central sleep apnea syndrome skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine syndrome -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, central sleep -MONDO:0004731 central sleep apnea syndrome skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, central sleep MONDO:0004737 homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cbs deficiency MONDO:0004739 urea cycle disorder skos:closeMatch Orphanet:79167 Disorder of urea cycle metabolism and ammonia detoxification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of urea cycle metabolism and ammonia detoxification MONDO:0004745 priapism skos:narrowMatch ICD10CM:N48.39 Other priapism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym priapism semapv:RegularExpressionReplacement @@ -1021,31 +1021,31 @@ MONDO:0004745 priapism skos:exactMatch NCIT:C85022 Priapism semapv:LexicalMatchi MONDO:0004753 mechanical strabismus skos:narrowMatch ICD10CM:H50.69 Other mechanical strabismus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mechanical strabismus semapv:RegularExpressionReplacement MONDO:0004754 rectal prolapse skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rectal prolapse MONDO:0004754 rectal prolapse skos:exactMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal prolapse -MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scotoma MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label scotoma +MONDO:0004758 scotoma skos:exactMatch NCIT:C118737 Scotoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label scotoma MONDO:0004768 keratoconjunctivitis skos:narrowMatch ICD10CM:H16.29 Other keratoconjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym keratoconjunctivitis semapv:RegularExpressionReplacement MONDO:0004770 exophthalmos skos:exactMatch NCIT:C87114 Proptosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proptosis -MONDO:0004773 iridocyclitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022073 -MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement -MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement -MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iridocyclitis -MONDO:0004773 iridocyclitis skos:exactMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iridocyclitis +MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:narrowMatch ICD10WHO:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:narrowMatch ICD10CM:H20.8 Other iridocyclitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym iridocyclitis semapv:RegularExpressionReplacement +MONDO:0004773 iridocyclitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022073 +MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lens-induced iridocyclitis MONDO:0004775 lens-induced iridocyclitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 -MONDO:0004775 lens-induced iridocyclitis skos:exactMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lens-induced iridocyclitis -MONDO:0004785 blepharitis skos:narrowMatch ICD10CM:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement MONDO:0004785 blepharitis skos:narrowMatch ICD10WHO:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement -MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement +MONDO:0004785 blepharitis skos:narrowMatch ICD10CM:H01 Other inflammation of eyelid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym inflammation of eyelid semapv:RegularExpressionReplacement MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement +MONDO:0004789 cholangitis skos:narrowMatch ICD10CM:K83.09 Other cholangitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholangitis semapv:RegularExpressionReplacement MONDO:0004790 fatty liver disease skos:exactMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym steatosis of liver -MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement -MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement -MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004795 otitis externa skos:narrowMatch ICD10WHO:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement +MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement +MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8 Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement +MONDO:0004795 otitis externa skos:narrowMatch ICD10CM:H60.8X Other otitis externa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otitis externa semapv:RegularExpressionReplacement MONDO:0004796 infectious meningitis skos:closeMatch NCIT:C26828 Meningitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningitis MONDO:0004806 chronic eosinophilic pneumonia skos:exactMatch Orphanet:2902 Idiopathic chronic eosinophilic pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic eosinophilic pneumonia MONDO:0004815 osteosclerotic plasma cell myeloma skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerotic myeloma @@ -1055,160 +1055,160 @@ MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10CM:N21.8 Other MONDO:0004828 lower urinary tract calculus skos:narrowMatch ICD10WHO:N21.8 Other lower urinary tract calculus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lower urinary tract calculus semapv:RegularExpressionReplacement MONDO:0004842 stomatitis skos:narrowMatch ICD10CM:K12.39 Other oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym oral mucositis semapv:RegularExpressionReplacement MONDO:0004845 aphthous stomatitis skos:closeMatch NCIT:C62546 Canker Sore semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label canker sore -MONDO:0004846 placental abruption skos:narrowMatch ICD10WHO:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8X Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004846 placental abruption skos:narrowMatch ICD10CM:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement +MONDO:0004846 placental abruption skos:narrowMatch ICD10WHO:O45.8 Other premature separation of placenta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym premature separation of placenta semapv:RegularExpressionReplacement MONDO:0004847 senile cataract skos:narrowMatch ICD10WHO:H25.8 Other senile cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym senile cataract semapv:RegularExpressionReplacement -MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10WHO:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10CM:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement +MONDO:0004849 pulmonary emphysema skos:narrowMatch ICD10WHO:J43.8 Other emphysema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym emphysema semapv:RegularExpressionReplacement MONDO:0004854 ophthalmia neonatorum skos:closeMatch NCIT:C116816 Gonococcal Ophthalmia Neonatorum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonococcal ophthalmia neonatorum MONDO:0004872 hemorrhoid skos:narrowMatch ICD10CM:K64.8 Other hemorrhoids semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemorrhoids semapv:RegularExpressionReplacement MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis +MONDO:0004885 choroidal sclerosis skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0004885 choroidal sclerosis skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroidal sclerosis MONDO:0004890 partial central choroid dystrophy skos:exactMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroidal dystrophy, central areolar MONDO:0004892 refractive error skos:exactMatch NCIT:C87145 Refractive Error semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label refractive error -MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement +MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10CM:H81.39 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004900 peripheral vertigo skos:narrowMatch ICD10WHO:H81.3 Other peripheral vertigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym peripheral vertigo semapv:RegularExpressionReplacement MONDO:0004907 alopecia skos:closeMatch Orphanet:79364 Alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002170 MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitral valve prolapse syndrome MONDO:0004910 mitral valve prolapse skos:exactMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym floppy mitral valve MONDO:0004911 cardiovascular syphilis skos:narrowMatch ICD10CM:A52.09 Other cardiovascular syphilis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cardiovascular syphilis semapv:RegularExpressionReplacement -MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym median arcuate ligament syndrome -MONDO:0004920 hydrocele skos:narrowMatch ICD10CM:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement +MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm skos:exactMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label celiac artery compression syndrome MONDO:0004920 hydrocele skos:narrowMatch ICD10WHO:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement +MONDO:0004920 hydrocele skos:narrowMatch ICD10CM:N43.2 Other hydrocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydrocele semapv:RegularExpressionReplacement MONDO:0004926 dacryocystitis skos:closeMatch NCIT:C26971 Dacryoadenitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dacryoadenitis MONDO:0004927 dacryocystocele skos:exactMatch Orphanet:141083 Nasolacrimal duct cyst semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dacryocystocele MONDO:0004927 dacryocystocele skos:exactMatch NCIT:C98968 Lacrimal Mucocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lacrimal mucocele -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 -MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152101 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018636 +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 +MONDO:0004933 hypoplastic left heart syndrome skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152101 MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0004941 eosinophilia-myalgia syndrome skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0004946 hypoglycemia skos:narrowMatch ICD10CM:E16.1 Other hypoglycemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypoglycemia semapv:RegularExpressionReplacement MONDO:0004946 hypoglycemia skos:narrowMatch ICD10WHO:E16.1 Other hypoglycaemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypoglycaemia semapv:RegularExpressionReplacement -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151400 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0855095 -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008958 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151400 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphatic -MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch OMIM:151400 leukemia, chronic lymphocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic lymphocytic +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small lymphocytic lymphoma +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023434 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015451 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008958 +MONDO:0004948 B-cell chronic lymphocytic leukemia skos:closeMatch NCIT:C7540 Small Lymphocytic Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small lymphocytic lymphoma MONDO:0004950 gastric carcinoma skos:closeMatch Orphanet:423771 Rare carcinoma of stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0699791 -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids, progression to MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, susceptibility to -MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired immunodeficiency syndrome, progression to MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hiv-1, resistance to +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aids, progression to +MONDO:0004951 susceptibility to HIV infection skos:closeMatch OMIM:609423 human immunodeficiency virus iia 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired immunodeficiency syndrome, progression to +MONDO:0004952 Hodgkins lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0004952 Hodgkins lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hodgkin lymphoma semapv:RegularExpressionReplacement MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 MONDO:0004952 Hodgkins lymphoma skos:closeMatch Orphanet:98845 Classic Hodgkin lymphoma, lymphocyte-rich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006689 -MONDO:0004952 Hodgkins lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0004952 Hodgkins lymphoma skos:closeMatch NCIT:C164145 Hodgkin's Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hodgkins sarcoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0004952 Hodgkins lymphoma skos:exactMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004957 mucinous adenocarcinoma skos:exactMatch NCIT:C27379 Mucin-Producing Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mucin-producing adenocarcinoma MONDO:0004959 plasma cell neoplasm skos:closeMatch Orphanet:98282 Plasma cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959632 MONDO:0004963 T-cell acute lymphoblastic leukemia skos:exactMatch Orphanet:99861 Precursor T-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym t-all -MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement -MONDO:0004966 gastritis skos:closeMatch NCIT:C27013 Erosive Gastritis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label erosive gastritis -MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement +MONDO:0004966 gastritis skos:narrowMatch ICD10CM:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement +MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement MONDO:0004966 gastritis skos:narrowMatch ICD10WHO:K29.6 Other gastritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gastritis semapv:RegularExpressionReplacement -MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C27094 Cylindroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindroma +MONDO:0004966 gastritis skos:closeMatch NCIT:C27013 Erosive Gastritis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label erosive gastritis MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C3680 Cribriform Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cribriform carcinoma +MONDO:0004971 adenoid cystic carcinoma skos:closeMatch NCIT:C27094 Cylindroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindroma MONDO:0004972 adenoma skos:closeMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acinar cell adenoma +MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile and senile dementia MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0004975 Alzheimer disease skos:exactMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile and senile dementia MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002026 MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002736 -MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002449 +MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002026 MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020981 -MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.99 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement +MONDO:0004977 angioimmunoblastic T-cell lymphoma skos:closeMatch Orphanet:86886 Angioimmunoblastic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002449 MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.998 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement MONDO:0004979 asthma skos:closeMatch NCIT:C26976 Chronic Obstructive Asthma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic obstructive asthma +MONDO:0004979 asthma skos:narrowMatch ICD10CM:J45.99 Other asthma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym asthma semapv:RegularExpressionReplacement MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.89 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement -MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement MONDO:0004980 atopic eczema skos:exactMatch NCIT:C37910 Allergic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic MONDO:0004980 atopic eczema skos:narrowMatch ICD10WHO:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement -MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement -MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement -MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder +MONDO:0004980 atopic eczema skos:narrowMatch ICD10CM:L20.8 Other atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym atopic dermatitis semapv:RegularExpressionReplacement MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis MONDO:0004985 bipolar disorder skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34424 Bipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bipolar depression +MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder +MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0004985 bipolar disorder skos:narrowMatch ICD10CM:F31.89 Other bipolar disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym bipolar disorder semapv:RegularExpressionReplacement MONDO:0004989 breast carcinoma skos:closeMatch Orphanet:180257 Rare malignant breast tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0678222 -MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym luminal breast cancer MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym breast tumor luminal -MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 -MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10WHO:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement +MONDO:0004990 breast tumor luminal A or B skos:narrowMatch DOID:0060548 luminal breast carcinoma A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym luminal breast cancer +MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10CM:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878544 -MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10CM:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement +MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009202 MONDO:0004994 cardiomyopathy skos:closeMatch Orphanet:167848 Rare cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007636 +MONDO:0004994 cardiomyopathy skos:narrowMatch ICD10WHO:I42.8 Other cardiomyopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cardiomyopathies semapv:RegularExpressionReplacement MONDO:0005002 chronic obstructive pulmonary disease skos:exactMatch NCIT:C62180 Cold semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cold -MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10WHO:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement -MONDO:0005003 chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatitis, chronic MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10CM:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement +MONDO:0005003 chronic pancreatitis skos:exactMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatitis, chronic +MONDO:0005003 chronic pancreatitis skos:narrowMatch ICD10WHO:K86.1 Other chronic pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic pancreatitis semapv:RegularExpressionReplacement MONDO:0005004 clear cell adenocarcinoma skos:exactMatch NCIT:C4156 Water-Clear Cell Adenocarcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label water-clear cell adenocarcinoma MONDO:0005005 clear cell renal carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma -MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym regional enteritis MONDO:0005011 Crohn disease skos:exactMatch NCIT:C37262 Granulomatous Colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label granulomatous colitis +MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005011 Crohn disease skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym regional enteritis MONDO:0005015 diabetes mellitus skos:closeMatch Orphanet:101952 Rare diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011849 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007193 -MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 +MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056370 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217604 Dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002311 MONDO:0005021 dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial dilated cardiomyopathy MONDO:0005023 ductal breast carcinoma in situ skos:closeMatch NCIT:C2924 Breast Ductal Carcinoma In Situ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast ductal carcinoma in situ -MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement +MONDO:0005027 epilepsy skos:narrowMatch ICD10CM:G40.80 Other epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005027 epilepsy skos:narrowMatch ICD10WHO:G40.8 Other epilepsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epilepsy semapv:RegularExpressionReplacement MONDO:0005028 esophageal adenocarcinoma skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 MONDO:0005028 esophageal adenocarcinoma skos:exactMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of esophagus +MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040028 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015493 MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 -MONDO:0005029 essential thrombocythemia skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013920 -MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017709 MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 +MONDO:0005033 ganglioneuroma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017709 MONDO:0005034 thyroid gland follicular carcinoma skos:closeMatch NCIT:C27380 Thyroid Gland Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label thyroid gland adenocarcinoma MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017708 MONDO:0005035 ganglioneuroblastoma skos:closeMatch Orphanet:251877 Ganglioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206718 -MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label germ cell tumor -MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement -MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005040 germ cell tumor skos:exactMatch Orphanet:3399 Germ cell tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label germ cell tumor MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement MONDO:0005041 glaucoma skos:narrowMatch ICD10CM:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement +MONDO:0005041 glaucoma skos:narrowMatch ICD10WHO:H40.8 Other glaucoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym glaucoma semapv:RegularExpressionReplacement MONDO:0005044 hypertensive disorder skos:closeMatch NCIT:C3117 Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension -MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007194 +MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002312 -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020871 -MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch Orphanet:217569 Rare hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007194 MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement -MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10CM:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement +MONDO:0005045 hypertrophic cardiomyopathy skos:narrowMatch ICD10WHO:I42.2 Other hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrophic cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005045 hypertrophic cardiomyopathy skos:closeMatch NCIT:C84773 Familial Hypertrophic Cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial hypertrophic cardiomyopathy MONDO:0005047 infertility disorder skos:exactMatch NCIT:C63385 Sterile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sterile MONDO:0005047 infertility disorder skos:closeMatch NCIT:C3836 Infertility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infertility @@ -1217,141 +1217,141 @@ MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irri MONDO:0005052 irritable bowel syndrome skos:narrowMatch ICD10CM:K58.8 Other irritable bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym irritable bowel syndrome semapv:RegularExpressionReplacement MONDO:0005053 ischemic disease skos:closeMatch NCIT:C34738 Ischemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ischemia MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 -MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 -MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C14327 Human Herpesvirus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023284 +MONDO:0005055 Kaposi's sarcoma skos:closeMatch NCIT:C14327 Human Herpesvirus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005055 Kaposi's sarcoma skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012514 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023269 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024189 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 MONDO:0005058 leiomyosarcoma skos:closeMatch Orphanet:64720 Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007890 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 +MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023827 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024627 MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008080 -MONDO:0005060 liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023827 MONDO:0005061 lung adenocarcinoma skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of lung -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 -MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025310 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024299 MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 +MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008223 +MONDO:0005062 lymphoma skos:closeMatch Orphanet:223735 Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025310 MONDO:0005063 medullary breast carcinoma skos:closeMatch NCIT:C9119 Breast Medullary Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast medullary carcinoma -MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008654 +MONDO:0005065 mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025500 +MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025517 MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008659 -MONDO:0005066 metabolic disease skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025517 -MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement -MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029260 +MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005066 metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009447 +MONDO:0005072 neuroblastoma skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029260 MONDO:0005073 melanocytic nevus skos:exactMatch NCIT:C42539 Mole semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mole MONDO:0005075 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym papillary carcinoma of thyroid MONDO:0005075 thyroid gland papillary carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238463 +MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034738 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014917 -MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034738 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047974 MONDO:0005077 pertussis skos:closeMatch Orphanet:1489 Whooping cough semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043167 MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 MONDO:0005078 phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003557 -MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036485 MONDO:0005081 preeclampsia skos:exactMatch NCIT:C4371 Gestational Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gestational hypertension +MONDO:0005081 preeclampsia skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036485 MONDO:0005083 psoriasis skos:narrowMatch ICD10CM:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement MONDO:0005083 psoriasis skos:narrowMatch ICD10WHO:L40.8 Other psoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym psoriasis semapv:RegularExpressionReplacement MONDO:0005085 pterygium skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pterygium of conjunctiva and cornea MONDO:0005085 pterygium skos:exactMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pterygium of conjunctiva and cornea MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005086 renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypernephroma MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067946 -MONDO:0005086 renal cell carcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypernephroma -MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 -MONDO:0005086 renal cell carcinoma skos:exactMatch NCIT:C9385 Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal cell carcinoma +MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:217071 Renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 MONDO:0005086 renal cell carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002292 +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement +MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:closeMatch OMIM:181500 schizophrenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia with or without an affective disorder +MONDO:0005090 schizophrenia skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:narrowMatch ICD10CM:F20.89 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement MONDO:0005090 schizophrenia skos:narrowMatch ICD10WHO:F20.8 Other schizophrenia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schizophrenia semapv:RegularExpressionReplacement -MONDO:0005090 schizophrenia skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder -MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061982 MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 +MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d045169 MONDO:0005091 severe acute respiratory syndrome skos:closeMatch Orphanet:140896 Severe acute respiratory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1175175 -MONDO:0005093 skin disorder skos:closeMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label genodermatosis MONDO:0005093 skin disorder skos:closeMatch NCIT:C27554 Dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dermatosis -MONDO:0005094 hemangiopericytoma skos:closeMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant hemangiopericytoma +MONDO:0005093 skin disorder skos:closeMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label genodermatosis MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0005094 hemangiopericytoma skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 +MONDO:0005094 hemangiopericytoma skos:closeMatch NCIT:C4301 Malignant Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant hemangiopericytoma MONDO:0005098 stroke disorder skos:exactMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrovascular accident -MONDO:0005098 stroke disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction MONDO:0005098 stroke disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral infarction -MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subarachnoid hemorrhage +MONDO:0005098 stroke disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral infarction MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label subarachnoid hemorrhage -MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement -MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement +MONDO:0005099 subarachnoid hemorrhage skos:exactMatch NCIT:C50757 Subarachnoid Hemorrhage semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label subarachnoid hemorrhage MONDO:0005100 systemic sclerosis skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042953 +MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement +MONDO:0005100 systemic sclerosis skos:narrowMatch ICD10CM:M34.89 Other systemic sclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym systemic sclerosis semapv:RegularExpressionReplacement +MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative colitis +MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative colitis MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement -MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement -MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ulcerative colitis -MONDO:0005101 ulcerative colitis skos:exactMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ulcerative colitis MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10WHO:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement +MONDO:0005101 ulcerative colitis skos:narrowMatch ICD10CM:K51.8 Other ulcerative colitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ulcerative colitis semapv:RegularExpressionReplacement MONDO:0005103 well-differentiated liposarcoma skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 MONDO:0005105 melanoma skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, malignant -MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomatosis, familial multiple +MONDO:0005106 lipoma skos:closeMatch NCIT:C4248 Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatous neoplasm MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoma MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoma -MONDO:0005106 lipoma skos:closeMatch NCIT:C4248 Lipomatous Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatous neoplasm +MONDO:0005106 lipoma skos:exactMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomatosis, familial multiple MONDO:0005112 malignant pleural mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0812413 MONDO:0005113 bacterial infectious disease skos:closeMatch Orphanet:163582 Rare bacterial infectious disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004623 MONDO:0005115 temporal lobe epilepsy skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842564 -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 +MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023788 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930851 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047931 -MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023788 MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 +MONDO:0005116 Whipple disease skos:closeMatch Orphanet:3452 Whipple disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008061 +MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024229 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023343 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 -MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024229 MONDO:0005124 leprosy skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007918 -MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement -MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement +MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005129 cataract skos:narrowMatch ICD10WHO:H26 Other cataract semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement +MONDO:0005129 cataract skos:narrowMatch ICD10CM:H26 Other cataract semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cataract semapv:RegularExpressionReplacement MONDO:0005131 cervical carcinoma skos:closeMatch Orphanet:213761 Rare cancer of cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302592 -MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement -MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005133 endometriosis skos:narrowMatch ICD10CM:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement +MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement +MONDO:0005133 endometriosis skos:narrowMatch ICD10WHO:N80.8 Other endometriosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endometriosis semapv:RegularExpressionReplacement MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025487 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024530 MONDO:0005136 malaria skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008288 MONDO:0005139 morbid obesity skos:exactMatch NCIT:C34858 Morbid Obesity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label morbid obesity MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes -MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diabetes mellitus, noninsulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:125853 iia 2 diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin resistance, susceptibility to +MONDO:0005148 type 2 diabetes mellitus skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diabetes mellitus, noninsulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005149 pulmonary hypertension skos:exactMatch NCIT:C3120 Pulmonary Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary hypertension MONDO:0005152 hypopituitarism skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 -MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement +MONDO:0005155 cirrhosis of liver skos:narrowMatch ICD10CM:K74.69 Other cirrhosis of liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cirrhosis of liver semapv:RegularExpressionReplacement MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label prostate cancer MONDO:0005159 prostate carcinoma skos:closeMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym prostate cancer -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic aneurysm -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27198 Ruptured Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured aortic aneurysm +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27046 Ruptured Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured abdominal aortic aneurysm MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27299 Ruptured Thoracic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured thoracic aneurysm -MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aortic aneurysm +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C27198 Ruptured Aortic Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ruptured aortic aneurysm +MONDO:0005160 aortic aneurysm skos:exactMatch NCIT:C26697 Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aortic aneurysm MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016632 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 -MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016057 +MONDO:0005164 fibrosarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005354 MONDO:0005178 osteoarthritis skos:exactMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoarthrosis MONDO:0005185 chronic childhood arthritis skos:exactMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile rheumatoid arthritis MONDO:0005190 macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 @@ -1365,9 +1365,9 @@ MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other r MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10WHO:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002313 -MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007196 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038748 MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217635 Familial restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial restrictive cardiomyopathy +MONDO:0005201 restrictive cardiomyopathy skos:closeMatch Orphanet:217632 Restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007196 MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005201 restrictive cardiomyopathy skos:narrowMatch ICD10CM:I42.5 Other restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym restrictive cardiomyopathy semapv:RegularExpressionReplacement MONDO:0005202 atopic IgE-mediated allergic disorder skos:closeMatch NCIT:C41366 Atopy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atopy @@ -1377,36 +1377,36 @@ MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma sem MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039022 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035412 MONDO:0005212 rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012208 -MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266044 MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal medullary carcinoma +MONDO:0005220 collecting duct carcinoma skos:closeMatch Orphanet:247203 Collecting duct carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266044 MONDO:0005223 acute myeloid leukemia with minimal differentiation skos:closeMatch Orphanet:98832 Acute myeloid leukemia with minimal differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522631 MONDO:0005240 kidney disorder skos:closeMatch NCIT:C34843 Nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy +MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement -MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement -MONDO:0005246 osteomyelitis skos:narrowMatch ICD10CM:M86.8X Other osteomyelitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement +MONDO:0005246 osteomyelitis skos:narrowMatch ICD10WHO:M86.8 Other osteomyelitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteomyelitis semapv:RegularExpressionReplacement MONDO:0005249 pneumonia skos:closeMatch NCIT:C27197 Acute Pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pneumonia +MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.8 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement +MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.8 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.89 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement -MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.8 Other heart failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement -MONDO:0005252 heart failure skos:narrowMatch ICD10CM:I50.8 Other heart failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym heart failure semapv:RegularExpressionReplacement MONDO:0005258 autism spectrum disorder skos:exactMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autism spectrum disorder MONDO:0005258 autism spectrum disorder skos:exactMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autism spectrum disorder -MONDO:0005258 autism spectrum disorder skos:narrowMatch ICD10CM:F84.8 Other pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pervasive developmental disorders semapv:RegularExpressionReplacement MONDO:0005258 autism spectrum disorder skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atypical autism MONDO:0005258 autism spectrum disorder skos:narrowMatch ICD10WHO:F84.8 Other pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pervasive developmental disorders semapv:RegularExpressionReplacement +MONDO:0005258 autism spectrum disorder skos:narrowMatch ICD10CM:F84.8 Other pervasive developmental disorders semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym pervasive developmental disorders semapv:RegularExpressionReplacement MONDO:0005260 autism skos:closeMatch OMIM:209850 autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autistic disorder MONDO:0005265 inflammatory bowel disease skos:closeMatch Orphanet:104012 Rare inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021390 MONDO:0005271 allergic disease skos:closeMatch NCIT:C3114 Hypersensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypersensitivity MONDO:0005271 allergic disease skos:narrowMatch ICD10CM:T78.49 Other allergy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergy semapv:RegularExpressionReplacement -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aregenerative anemia -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 -MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038269 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000753 +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aregenerative anemia +MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0005276 dental caries skos:narrowMatch ICD10WHO:K02.8 Other dental caries semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dental caries semapv:RegularExpressionReplacement MONDO:0005277 migraine disorder skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym migraine MONDO:0005277 migraine disorder skos:narrowMatch ICD10CM:G43.8 Other migraine semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym migraine semapv:RegularExpressionReplacement @@ -1415,35 +1415,35 @@ MONDO:0005278 serous adenocarcinoma skos:closeMatch NCIT:C3778 Serous Cystadenoc MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024137 MONDO:0005282 cutaneous lupus erythematosus skos:closeMatch Orphanet:535 Rare cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008178 +MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain aneurysm MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain aneurysm MONDO:0005291 brain aneurysm skos:closeMatch NCIT:C34458 Intracranial Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial aneurysm -MONDO:0005291 brain aneurysm skos:exactMatch NCIT:C27208 Brain Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain aneurysm -MONDO:0005296 sleep apnea syndrome skos:narrowMatch ICD10CM:G47.39 Other sleep apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym sleep apnea semapv:RegularExpressionReplacement MONDO:0005296 sleep apnea syndrome skos:exactMatch NCIT:C26884 Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sleep apnea -MONDO:0005297 urethritis skos:exactMatch NCIT:C27079 Non-Gonococcal Urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-gonococcal urethritis +MONDO:0005296 sleep apnea syndrome skos:narrowMatch ICD10CM:G47.39 Other sleep apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym sleep apnea semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement -MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10CM:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement +MONDO:0005297 urethritis skos:narrowMatch ICD10WHO:N34.2 Other urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urethritis semapv:RegularExpressionReplacement +MONDO:0005297 urethritis skos:exactMatch NCIT:C27079 Non-Gonococcal Urethritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-gonococcal urethritis +MONDO:0005298 osteoporosis skos:exactMatch OMIM:611739 bone mineral density quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to MONDO:0005298 osteoporosis skos:narrowMatch ICD10WHO:M81.8 Other osteoporosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteoporosis semapv:RegularExpressionReplacement MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, involutional -MONDO:0005298 osteoporosis skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to -MONDO:0005298 osteoporosis skos:exactMatch OMIM:611739 bone mineral density quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to -MONDO:0005298 osteoporosis skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to MONDO:0005298 osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fracture, hip, susceptibility to +MONDO:0005298 osteoporosis skos:exactMatch OMIM:601884 bone mineral density quantitative trait locus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to +MONDO:0005298 osteoporosis skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteoporosis, susceptibility to MONDO:0005307 contracture skos:closeMatch NCIT:C75585 Muscle Contracture semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label muscle contracture MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 -MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376620 MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019449 +MONDO:0005312 pouchitis skos:closeMatch Orphanet:217067 Pouchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376620 MONDO:0005313 necrotizing enterocolitis skos:closeMatch Orphanet:391673 Necrotizing enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0520459 MONDO:0005319 humerus fracture skos:exactMatch NCIT:C26795 Humerus Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humerus fracture MONDO:0005320 tibia fracture skos:exactMatch NCIT:C99083 Tibia Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tibia fracture -MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fuchs endothelial corneal dystrophy MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016781 -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005321 Fuchs' endothelial dystrophy skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fuchs endothelial corneal dystrophy MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10WHO:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0005324 seasonal allergic rhinitis skos:narrowMatch ICD10CM:J30.2 Other seasonal allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seasonal allergic rhinitis semapv:RegularExpressionReplacement MONDO:0005325 radius fracture skos:exactMatch NCIT:C99039 Radius Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label radius fracture MONDO:0005326 sunburn skos:narrowMatch ICD10WHO:L55.8 Other sunburn semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sunburn semapv:RegularExpressionReplacement MONDO:0005326 sunburn skos:exactMatch NCIT:C3395 Sunburn semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sunburn @@ -1451,58 +1451,58 @@ MONDO:0005327 hip fracture skos:exactMatch NCIT:C26794 Hip Fracture semapv:Lexic MONDO:0005333 hyperthyroxinemia skos:exactMatch NCIT:C131850 Hyperthyroxinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperthyroxinemia MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 MONDO:0005334 hereditary nephritis skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 +MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glaucoma, primary open angle MONDO:0005338 open-angle glaucoma skos:exactMatch NCIT:C35394 Primary Open Angle Glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary open angle glaucoma MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glaucoma, primary open angle -MONDO:0005338 open-angle glaucoma skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glaucoma, primary open angle -MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym androgenetic alopecia MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androgenetic alopecia -MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005339 androgenetic alopecia skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym androgenetic alopecia MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement +MONDO:0005340 alopecia areata skos:narrowMatch ICD10WHO:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005340 alopecia areata skos:narrowMatch ICD10CM:L63.8 Other alopecia areata semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym alopecia areata semapv:RegularExpressionReplacement MONDO:0005342 IgA glomerulonephritis skos:exactMatch NCIT:C35280 Focal Glomerulonephritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal glomerulonephritis -MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement -MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005345 hypospadias skos:narrowMatch ICD10WHO:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement +MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement +MONDO:0005345 hypospadias skos:narrowMatch ICD10CM:Q54.8 Other hypospadias semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypospadias semapv:RegularExpressionReplacement MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertriglyceridemia MONDO:0005347 hypertriglyceridemia skos:exactMatch NCIT:C37971 Hypertriglyceridemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertriglyceridemia -MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement -MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement MONDO:0005349 otosclerosis skos:narrowMatch ICD10WHO:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement +MONDO:0005349 otosclerosis skos:narrowMatch ICD10CM:H80.8 Other otosclerosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym otosclerosis semapv:RegularExpressionReplacement MONDO:0005350 abdominal aortic aneurysm skos:exactMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym abdominal aortic aneurysm MONDO:0005350 abdominal aortic aneurysm skos:exactMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label abdominal aortic aneurysm MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label coronary vasospasm MONDO:0005356 coronary vasospasm skos:exactMatch NCIT:C34515 Coronary Vasospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label coronary vasospasm +MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007562 -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005361 eosinophilic esophagitis skos:exactMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eoe MONDO:0005362 erectile dysfunction skos:closeMatch NCIT:C3133 Impotence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label impotence +MONDO:0005365 hearing loss disorder skos:narrowMatch ICD10WHO:H91 Other hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hearing loss semapv:RegularExpressionReplacement MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C27644 Deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C50576 Hearing Impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing impairment -MONDO:0005365 hearing loss disorder skos:narrowMatch ICD10WHO:H91 Other hearing loss semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hearing loss semapv:RegularExpressionReplacement MONDO:0005372 male infertility skos:closeMatch Orphanet:98048 Rare male infertility semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021364 MONDO:0005372 male infertility skos:narrowMatch ICD10CM:N46.8 Other male infertility semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym male infertility semapv:RegularExpressionReplacement -MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C34533 Reactive Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label reactive depression MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C35369 Neurotic Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurotic depression -MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement +MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C34533 Reactive Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label reactive depression MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement +MONDO:0005380 osteonecrosis skos:narrowMatch ICD10CM:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005380 osteonecrosis skos:narrowMatch ICD10WHO:M87.8 Other osteonecrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym osteonecrosis semapv:RegularExpressionReplacement MONDO:0005381 bone disorder skos:closeMatch Orphanet:364803 Rare bone disease related to a common gene or pathway defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone disorder related to a common gene or pathway defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005385 vascular disorder skos:closeMatch Orphanet:68362 Rare vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042373 MONDO:0005386 peripheral arterial disease skos:closeMatch NCIT:C84496 Peripheral Artery Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral artery disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C113348 Hypergonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism -MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C80099 Premature Menopause semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature menopause MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement -MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004661 +MONDO:0005387 primary ovarian failure skos:narrowMatch ICD10CM:E28.39 Other primary ovarian failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym primary ovarian failure semapv:RegularExpressionReplacement +MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C113348 Hypergonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019137 MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008312 +MONDO:0005388 primary biliary cholangitis skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004661 MONDO:0005396 thoracic aortic aneurysm skos:exactMatch NCIT:C27001 Thoracic Aortic Aneurysm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thoracic aortic aneurysm MONDO:0005399 venous thromboembolism skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym venous thromboembolism MONDO:0005399 venous thromboembolism skos:exactMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym venous thromboembolism @@ -1511,108 +1511,108 @@ MONDO:0005402 lymphoid leukemia skos:narrowMatch ICD10CM:C91.Z Other lymphoid le MONDO:0005411 gallbladder cancer skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label localized malignant gallbladder neoplasm MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stress ulcer -MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement +MONDO:0005420 hypothyroidism skos:narrowMatch ICD10WHO:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005420 hypothyroidism skos:narrowMatch ICD10CM:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005420 hypothyroidism skos:narrowMatch ICD10CM:E03 Other hypothyroidism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypothyroidism semapv:RegularExpressionReplacement MONDO:0005424 elephantiasis skos:exactMatch NCIT:C34569 Elephantiasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label elephantiasis MONDO:0005429 prion disease skos:exactMatch NCIT:C38853 Prion Disease Pathway semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prion disorder pathway semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206659 MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018236 +MONDO:0005440 embryonal carcinoma skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206659 MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of -MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of MONDO:0005453 congenital heart disease skos:closeMatch OMIM:140500 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of +MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart, malformation of MONDO:0005453 congenital heart disease skos:closeMatch OMIM:234750 heart, malformation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart, malformation of MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041228 -MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001461 +MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014353 +MONDO:0005459 human African trypanosomiasis skos:closeMatch Orphanet:3385 African trypanosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041228 MONDO:0005461 endometrium adenocarcinoma skos:closeMatch NCIT:C6287 Endometrial Endometrioid Adenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial endometrioid adenocarcinoma -MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement +MONDO:0005466 hypersomnia skos:narrowMatch ICD10CM:G47.19 Other hypersomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypersomnia semapv:RegularExpressionReplacement +MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement +MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.89 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10WHO:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement MONDO:0005468 hypotensive disorder skos:exactMatch NCIT:C3128 Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotension -MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.89 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement -MONDO:0005468 hypotensive disorder skos:narrowMatch ICD10CM:I95.8 Other hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypotension semapv:RegularExpressionReplacement -MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orthostatic hypotension -MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 +MONDO:0005469 orthostatic hypotension skos:exactMatch NCIT:C84970 Orthostatic Hypotension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label orthostatic hypotension MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0005486 tooth agenesis skos:exactMatch NCIT:C171426 Hypodontia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypodontia +MONDO:0005486 tooth agenesis skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0005488 adolescent idiopathic scoliosis skos:exactMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adolescent idiopathic scoliosis MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement +MONDO:0005492 urticaria skos:closeMatch Orphanet:79384 Rare urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042109 MONDO:0005492 urticaria skos:narrowMatch ICD10WHO:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement -MONDO:0005492 urticaria skos:closeMatch Orphanet:79384 Rare urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042109 MONDO:0005492 urticaria skos:narrowMatch ICD10CM:L50.8 Other urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym urticaria semapv:RegularExpressionReplacement MONDO:0005496 bile duct carcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0740277 MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone development disorder semapv:RegularExpressionReplacement MONDO:0005497 bone development disease skos:exactMatch NCIT:C34432 Bone Development Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bone development disorder semapv:RegularExpressionReplacement +MONDO:0005498 botulism skos:closeMatch NCIT:C128341 Foodborne Botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism +MONDO:0005498 botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006041 -MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006057 -MONDO:0005498 botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism -MONDO:0005498 botulism skos:closeMatch NCIT:C128341 Foodborne Botulism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label foodborne botulism -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label srd5a3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpi-cdg +MONDO:0005498 botulism skos:closeMatch Orphanet:1267 Botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001906 +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpm2-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg3-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg9-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpagt1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg8-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pmm2-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rft1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpagt1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm3-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg1-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg11-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label srd5a3-cdg MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg2-cdg -MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpm2-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg11-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg1-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg12-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpi-cdg +MONDO:0005500 congenital disorder of glycosylation type I skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mpdu1-cdg MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of glycosylation type ii MONDO:0005501 congenital disorder of glycosylation type II skos:exactMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type ii -MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mogs-cdg MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mgat2-cdg +MONDO:0005501 congenital disorder of glycosylation type II skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b4galt1-cdg +MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011311 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012310 MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003715 -MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011311 +MONDO:0005502 dengue disease skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012310 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013023 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012546 MONDO:0005504 diphtheria skos:closeMatch Orphanet:1679 Diphtheria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004165 -MONDO:0005504 diphtheria skos:narrowMatch ICD10WHO:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement MONDO:0005504 diphtheria skos:narrowMatch ICD10CM:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement +MONDO:0005504 diphtheria skos:narrowMatch ICD10WHO:A36.8 Other diphtheria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym diphtheria semapv:RegularExpressionReplacement MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch Orphanet:251946 Dysembryoplastic neuroepithelial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266177 MONDO:0005508 hereditary multiple osteochondromas skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple cartilaginous exostoses -MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch NCIT:C5183 Hereditary Multiple Exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary multiple exostoses +MONDO:0005508 hereditary multiple osteochondromas skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 MONDO:0005510 hydronephrosis skos:narrowMatch ICD10CM:N13.39 Other hydronephrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hydronephrosis semapv:RegularExpressionReplacement -MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056558 MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch NCIT:C7633 Peritoneal Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peritoneal mesothelioma +MONDO:0005512 malignant peritoneal mesothelioma skos:closeMatch Orphanet:168811 Malignant peritoneal mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056558 MONDO:0005516 osteochondrodysplasia skos:closeMatch NCIT:C34466 Cartilage Development Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cartilage development disorder MONDO:0005517 pharynx cancer skos:exactMatch NCIT:C3325 Pharyngeal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pharyngeal neoplasm MONDO:0005520 rickets skos:closeMatch NCIT:C131447 Nutritional Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nutritional rickets -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 -MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 +MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043376 MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039614 +MONDO:0005526 tetanus skos:closeMatch Orphanet:3299 Tetanus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013742 MONDO:0005526 tetanus skos:narrowMatch ICD10CM:A35 Other tetanus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym tetanus semapv:RegularExpressionReplacement MONDO:0005526 tetanus skos:narrowMatch ICD10WHO:A35 Other tetanus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym tetanus semapv:RegularExpressionReplacement MONDO:0005527 toxic encephalopathy skos:narrowMatch ICD10CM:G92.8 Other toxic encephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym toxic encephalopathy semapv:RegularExpressionReplacement MONDO:0005549 renal cell adenocarcinoma skos:exactMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenocarcinoma of kidney MONDO:0005550 infectious disease skos:exactMatch NCIT:C157825 Communicable Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label communicable disorder semapv:RegularExpressionReplacement -MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection MONDO:0005550 infectious disease skos:exactMatch NCIT:C128320 Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infection +MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection MONDO:0005554 rheumatic disorder skos:closeMatch NCIT:C26729 Connective Tissue Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label connective tissue disorder semapv:RegularExpressionReplacement MONDO:0005560 brain disorder skos:closeMatch NCIT:C26920 Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label encephalopathy +MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032461 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011086 -MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032461 MONDO:0005571 polycythemia skos:closeMatch Orphanet:98427 Polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036051 MONDO:0005575 colorectal cancer skos:closeMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colon cancer MONDO:0005578 arthritic joint disease skos:narrowMatch ICD10CM:M13 Other arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym arthritis semapv:RegularExpressionReplacement @@ -1621,76 +1621,76 @@ MONDO:0005580 esophageal squamous cell carcinoma skos:closeMatch Orphanet:99977 MONDO:0005586 head and neck neoplasm skos:closeMatch Orphanet:290849 Rare head and neck tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018671 MONDO:0005593 chronic periodontitis skos:exactMatch OMIM:260950 periodontitis, chronic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym periodontitis, chronic MONDO:0005593 chronic periodontitis skos:exactMatch OMIM:260950 periodontitis, chronic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label periodontitis, chronic -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035484 MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032131 -MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma +MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym solitary plasmacytoma MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010954 +MONDO:0005615 plasmacytoma skos:closeMatch Orphanet:86855 Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035484 +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma MONDO:0005619 typhoid fever skos:closeMatch Orphanet:99745 Typhoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041466 MONDO:0005623 autoimmune thyroid disease skos:closeMatch NCIT:C38766 Lymphocytic Thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic thyroiditis +MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015823 MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000880 -MONDO:0005629 Acanthamoeba keratitis skos:closeMatch Orphanet:67043 Amoebic keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069408 MONDO:0005631 actinomycosis skos:closeMatch NCIT:C34349 Actinomycetoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycetoma MONDO:0005634 acute hemorrhagic conjunctivitis skos:closeMatch NCIT:C34509 Viral Conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral conjunctivitis MONDO:0005644 amebiasis skos:exactMatch NCIT:C157785 Amoebiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amoebiasis MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002831 -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002255 -MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020376 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000724 +MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020376 +MONDO:0005645 ancylostomiasis skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002255 MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label condyloma acuminatum -MONDO:0005649 appendicitis skos:narrowMatch ICD10WHO:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement MONDO:0005649 appendicitis skos:narrowMatch ICD10CM:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003488 +MONDO:0005649 appendicitis skos:narrowMatch ICD10WHO:K36 Other appendicitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym appendicitis semapv:RegularExpressionReplacement MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 -MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004030 MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001228 +MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003488 +MONDO:0005657 aspergillosis skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004030 +MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003965 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001404 MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004576 -MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym babesiosis semapv:RegularExpressionReplacement MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym piroplasmosis semapv:RegularExpressionReplacement -MONDO:0005661 babesiosis skos:closeMatch Orphanet:108 Babesiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003965 -MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004692 +MONDO:0005661 babesiosis skos:narrowMatch ICD10CM:B60.09 Other babesiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym babesiosis semapv:RegularExpressionReplacement MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004080 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001447 +MONDO:0005662 balantidiasis skos:closeMatch Orphanet:1223 Balantidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004692 MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 MONDO:0005664 bartonellosis skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001474 -MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001716 -MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoclastoma +MONDO:0005668 bird fancier's lung skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004941 MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206638 +MONDO:0005674 bone giant cell tumor skos:closeMatch Orphanet:363976 Giant cell tumor of bone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoclastoma MONDO:0005680 Brill-Zinsser disease skos:closeMatch Orphanet:99990 Brill-Zinsser disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006181 +MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006500 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006309 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002006 MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002006 -MONDO:0005683 brucellosis skos:closeMatch Orphanet:1304 Brucellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006500 -MONDO:0005683 brucellosis skos:narrowMatch ICD10CM:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement MONDO:0005683 brucellosis skos:narrowMatch ICD10WHO:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007729 -MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 +MONDO:0005683 brucellosis skos:narrowMatch ICD10CM:A23.8 Other brucellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym brucellosis semapv:RegularExpressionReplacement MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 +MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007729 MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007361 +MONDO:0005692 cat-scratch disease skos:closeMatch Orphanet:50839 Cat-scratch disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002372 MONDO:0005699 cervicofacial actinomycosis skos:closeMatch NCIT:C34351 Cervicofacial Actinomycotic Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervicofacial actinomycotic infection MONDO:0005701 chlamydia trachomatis infectious disease skos:closeMatch NCIT:C76271 Chlamydia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chlamydia MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009186 -MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009825 MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003047 +MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009825 +MONDO:0005706 coccidioidomycosis skos:closeMatch Orphanet:228123 Coccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009186 +MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010022 MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009400 -MONDO:0005708 Colorado tick fever skos:closeMatch Orphanet:83595 Colorado tick fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003121 -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 -MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266191 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545080 MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 +MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058617 +MONDO:0005710 composite lymphoma skos:closeMatch Orphanet:168966 Composite lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266191 MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235833 MONDO:0005711 congenital diaphragmatic hernia skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010439 MONDO:0005714 congenital syphilis skos:closeMatch Orphanet:499009 Congenital syphilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039131 @@ -1698,22 +1698,22 @@ MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital t MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010652 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 MONDO:0005715 congenital toxoplasmosis skos:closeMatch Orphanet:858 Congenital toxoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014125 -MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011490 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010414 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003453 +MONDO:0005724 cryptococcosis skos:closeMatch Orphanet:1546 Cryptococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011490 MONDO:0005731 dipetalonemiasis skos:closeMatch NCIT:C119326 Mansonella perstans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mansonella perstans MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014587 MONDO:0005736 eastern equine encephalitis skos:closeMatch Orphanet:83594 Eastern equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153065 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014071 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:319218 Ebola hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 MONDO:0005737 Ebola hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282687 -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004443 +MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hydatidosis MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement -MONDO:0005738 echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013502 MONDO:0005738 echinococcosis skos:narrowMatch ICD10CM:B67.99 Other echinococcosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym echinococcosis semapv:RegularExpressionReplacement MONDO:0005744 yolk sac tumor skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endodermal sinus tumor MONDO:0005744 yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048251 @@ -1723,147 +1723,147 @@ MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:L MONDO:0005757 eumycotic mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0005761 filarial elephantiasis skos:closeMatch Orphanet:2035 Lymphatic filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016675 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 -MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260325 MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054740 -MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017409 +MONDO:0005764 follicular dendritic cell sarcoma skos:closeMatch Orphanet:86902 Follicular dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260325 MONDO:0005769 geniculate herpes zoster skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ramsay hunt syndrome -MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048608 +MONDO:0005769 geniculate herpes zoster skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017409 MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005862 +MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048608 MONDO:0005773 Gerstmann syndrome skos:closeMatch Orphanet:221117 Gerstmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005862 MONDO:0005774 glanders skos:closeMatch NCIT:C86226 Burkholderia mallei semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label burkholderia mallei MONDO:0005783 hemopericardium skos:exactMatch NCIT:C111644 Hemopericardium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemopericardium MONDO:0005783 hemopericardium skos:exactMatch NCIT:C111644 Hemopericardium semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemopericardium MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome skos:closeMatch NCIT:C84753 Hemorrhagic Fever with Renal Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhagic fever with renal syndrome MONDO:0005789 hepatitis D virus infection skos:exactMatch NCIT:C93324 Hepatitis D Virus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hepatitis d virus -MONDO:0005794 Herpesviridae infectious disease skos:exactMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label herpesvirus infection MONDO:0005794 Herpesviridae infectious disease skos:closeMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpesvirus infection +MONDO:0005794 Herpesviridae infectious disease skos:exactMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label herpesvirus infection MONDO:0005797 HIV wasting syndrome skos:closeMatch Orphanet:90081 AIDS wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343755 -MONDO:0005799 hookworm infectious disease skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hookworm infection MONDO:0005799 hookworm infectious disease skos:closeMatch NCIT:C34702 Hookworm Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hookworm infection +MONDO:0005799 hookworm infectious disease skos:closeMatch Orphanet:78 Ankylostomiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hookworm infection MONDO:0005801 human T-lymphotropic virus 1 infectious disease skos:closeMatch NCIT:C14223 HTLV-1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 +MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020546 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020413 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006925 -MONDO:0005802 hymenolepiasis skos:closeMatch Orphanet:401 Hymenolepiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020546 MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis MONDO:0005803 hyperinsulinemic hypoglycemia skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia +MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia +MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperprolactinemia MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperprolactinemia -MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperprolactinemia -MONDO:0005804 hyperprolactinemia skos:exactMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperprolactinemia +MONDO:0005810 infectious mononucleosis skos:exactMatch NCIT:C44044 Mono semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mono MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10CM:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement MONDO:0005810 infectious mononucleosis skos:narrowMatch ICD10WHO:B27.8 Other infectious mononucleosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym infectious mononucleosis semapv:RegularExpressionReplacement -MONDO:0005810 infectious mononucleosis skos:exactMatch NCIT:C44044 Mono semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mono -MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label interdigitating dendritic cell sarcoma MONDO:0005813 interdigitating dendritic cell sarcoma skos:exactMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label interdigitating dendritic cell sarcoma +MONDO:0005813 interdigitating dendritic cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0005815 pancreatic neuroendocrine neoplasm skos:closeMatch Orphanet:506052 Neuroendocrine neoplasm of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of pancreas MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020232 MONDO:0005817 Kluver-Bucy syndrome skos:closeMatch Orphanet:157823 Klüver-Bucy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066431 -MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023092 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 +MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023092 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007835 MONDO:0005820 Lassa fever skos:closeMatch Orphanet:99824 Lassa fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023927 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 -MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023240 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035718 +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023240 MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061266 -MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C76353 Legionella semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionella +MONDO:0005823 legionellosis skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007876 MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 MONDO:0005824 Legionnaires' disease skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007877 MONDO:0005824 Legionnaires' disease skos:exactMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0005824 Legionnaires' disease skos:exactMatch NCIT:C76353 Legionella semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label legionella +MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 +MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023364 MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007922 -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023364 -MONDO:0005825 leptospirosis skos:closeMatch Orphanet:509 Leptospirosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024238 MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol pneumonia MONDO:0005826 lipid pneumonia skos:closeMatch OMIM:215030 cholesterol pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesterol pneumonia -MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005827 lipoatrophic diabetes skos:closeMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoatrophic diabetes mellitus MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes +MONDO:0005827 lipoatrophic diabetes skos:closeMatch NCIT:C34537 Lipoatrophic Diabetes Mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoatrophic diabetes mellitus +MONDO:0005827 lipoatrophic diabetes skos:exactMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lipoatrophic diabetes MONDO:0005827 lipoatrophic diabetes skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023860 MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 -MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024641 MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008088 +MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023860 +MONDO:0005828 listeriosis skos:closeMatch Orphanet:533 Listeriosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024641 MONDO:0005833 lymphatic system disorder skos:closeMatch NCIT:C50764 Lymphadenopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphadenopathy -MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051981 MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 +MONDO:0005835 Lynch syndrome skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051981 MONDO:0005838 mansonelliasis skos:closeMatch Orphanet:2459 Mansonelliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024759 -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085407 -MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053982 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 +MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085407 MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016881 -MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10CM:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement +MONDO:0005846 microsporidiosis skos:closeMatch Orphanet:2552 Microsporidiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053982 MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10WHO:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement -MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049567 +MONDO:0005848 miliary tuberculosis skos:narrowMatch ICD10CM:A19.8 Other miliary tuberculosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym miliary tuberculosis semapv:RegularExpressionReplacement MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 +MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049567 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393799 MONDO:0005851 Miller Fisher syndrome skos:closeMatch Orphanet:98919 Miller Fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019846 -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008947 -MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027754 +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 +MONDO:0005854 mixed connective tissue disease skos:closeMatch Orphanet:809 Mixed connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026272 MONDO:0005866 mycobacterium avium complex disease skos:exactMatch NCIT:C76368 Mycobacterium avium complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mycobacterium avium complex MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0005871 Nematoda infectious disease skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 +MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029002 MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015827 MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015827 -MONDO:0005878 ocular onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029002 -MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oligohydramnios MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oligohydramnios +MONDO:0005881 oligohydramnios skos:exactMatch NCIT:C92839 Oligohydramnios semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oligohydramnios MONDO:0005885 optic neuritis skos:narrowMatch ICD10CM:H46.8 Other optic neuritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym optic neuritis semapv:RegularExpressionReplacement MONDO:0005893 pancreatic endocrine carcinoma skos:closeMatch Orphanet:506098 Neuroendocrine carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine carcinoma of pancreas -MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061906 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 +MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010229 MONDO:0005894 paracoccidioidomycosis skos:closeMatch Orphanet:73260 Paracoccidioidomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030409 MONDO:0005915 pityriasis versicolor skos:closeMatch NCIT:C112833 Tinea Versicolor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea versicolor MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113385 Placenta Increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta MONDO:0005919 placental insufficiency skos:closeMatch Orphanet:439167 Placental insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032051 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 -MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206629 MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018202 -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035400 -MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039012 +MONDO:0005933 pulmonary blastoma skos:closeMatch Orphanet:64741 Pulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206629 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 +MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035400 MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012202 +MONDO:0005942 Reye syndrome skos:closeMatch Orphanet:3096 Reye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039012 MONDO:0005965 spinal stenosis skos:closeMatch NCIT:C177445 Lumbar Spinal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lumbar spinal stenosis +MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041736 MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038034 MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 -MONDO:0005968 sporotrichosis skos:closeMatch Orphanet:826 Sporotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013174 -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 +MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041896 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014060 -MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041896 +MONDO:0005969 st. Louis encephalitis skos:closeMatch Orphanet:83484 St. Louis encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004674 MONDO:0005972 streptococcal pneumonia skos:exactMatch NCIT:C157959 Pneumococcal Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumococcal pneumonia -MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038463 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013322 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042254 MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085810 -MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 +MONDO:0005974 strongyloidiasis skos:closeMatch Orphanet:76 Strongyloidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038463 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048627 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 +MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013901 MONDO:0005979 thoracic outlet syndrome skos:closeMatch Orphanet:97330 Thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039984 -MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040553 +MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044269 MONDO:0005988 toxocariasis skos:closeMatch Orphanet:3343 Toxocariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014120 -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040830 +MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044582 MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014205 -MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044582 +MONDO:0005991 trench fever skos:closeMatch Orphanet:64694 Trench fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040830 MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C124388 Schistosoma haematobium semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schistosoma haematobium MONDO:0006001 urinary schistosomiasis skos:exactMatch NCIT:C35362 Bladder Schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bladder schistosomiasis MONDO:0006003 uterine corpus cancer skos:closeMatch OMIM:608089 endometrial cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial cancer @@ -1876,208 +1876,208 @@ MONDO:0006009 viral encephalitis skos:closeMatch Orphanet:98252 Infectious encep MONDO:0006012 viral pneumonia skos:narrowMatch ICD10WHO:J12.8 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.8 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement MONDO:0006012 viral pneumonia skos:narrowMatch ICD10CM:J12.89 Other viral pneumonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral pneumonia semapv:RegularExpressionReplacement +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 +MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0006015 Waterhouse-Friderichsen syndrome skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047847 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0006018 Wissler syndrome skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0006021 Prinzmetal angina skos:exactMatch NCIT:C66915 Variant Angina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label variant angina MONDO:0006022 acidosis disorder skos:exactMatch NCIT:C83504 Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acidosis MONDO:0006025 autosomal recessive disease skos:exactMatch NCIT:C85866 Autosomal Recessive Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal recessive disorder semapv:RegularExpressionReplacement -MONDO:0006030 chronic cystitis skos:narrowMatch ICD10CM:N30.2 Other chronic cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic cystitis semapv:RegularExpressionReplacement MONDO:0006030 chronic cystitis skos:narrowMatch ICD10WHO:N30.2 Other chronic cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic cystitis semapv:RegularExpressionReplacement -MONDO:0006031 chronic rhinosinusitis skos:narrowMatch ICD10CM:J32.8 Other chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic sinusitis semapv:RegularExpressionReplacement +MONDO:0006030 chronic cystitis skos:narrowMatch ICD10CM:N30.2 Other chronic cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym chronic cystitis semapv:RegularExpressionReplacement MONDO:0006031 chronic rhinosinusitis skos:narrowMatch ICD10WHO:J32.8 Other chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic sinusitis semapv:RegularExpressionReplacement +MONDO:0006031 chronic rhinosinusitis skos:narrowMatch ICD10CM:J32.8 Other chronic sinusitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym chronic sinusitis semapv:RegularExpressionReplacement MONDO:0006032 cystitis skos:narrowMatch ICD10WHO:N30.8 Other cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cystitis semapv:RegularExpressionReplacement MONDO:0006032 cystitis skos:narrowMatch ICD10CM:N30.8 Other cystitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cystitis semapv:RegularExpressionReplacement MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse midline glioma MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006106 MONDO:0006036 granulosa cell tumor skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006106 +MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrolethalus MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931104 -MONDO:0006037 hydrolethalus syndrome skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536079 MONDO:0006040 lactic acidosis skos:exactMatch NCIT:C98969 Lactic Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lactic acidosis -MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334708 MONDO:0006043 metaplastic breast carcinoma skos:closeMatch NCIT:C5164 Breast Metaplastic Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast metaplastic carcinoma +MONDO:0006043 metaplastic breast carcinoma skos:closeMatch Orphanet:213531 Metaplastic carcinoma of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334708 MONDO:0006045 ovarian clear cell adenocarcinoma skos:closeMatch Orphanet:398971 Clear cell adenocarcinoma of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clear cell adenocarcinoma of the ovary MONDO:0006053 renal leiomyoma skos:exactMatch NCIT:C159209 Kidney Leiomyoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kidney leiomyoma MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant testicular sex cord-stromal tumor +MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wilms tumor MONDO:0006058 Wilms tumor skos:exactMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wilms tumor MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 -MONDO:0006058 Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009396 MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0006060 nasopharyngeal squamous cell carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0006079 ameloblastic carcinoma skos:closeMatch Orphanet:314422 Ameloblastic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1314678 -MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym askin tumor MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym askin tumor +MONDO:0006094 Askin tumor skos:exactMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym askin tumor MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atypical lipomatous tumor -MONDO:0006097 atypical lipomatous tumor skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 MONDO:0006097 atypical lipomatous tumor skos:exactMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical lipoma +MONDO:0006097 atypical lipomatous tumor skos:closeMatch Orphanet:99971 Well-differentiated liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370889 MONDO:0006131 cerebellar liponeurocytoma skos:closeMatch Orphanet:251931 Cerebellar liponeurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370507 MONDO:0006132 cervical adenoid basal carcinoma skos:exactMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cervical adenoid basal carcinoma MONDO:0006138 cervical large cell neuroendocrine carcinoma skos:closeMatch NCIT:C188221 Cervical Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical neuroendocrine tumor MONDO:0006139 cervical metaplasia skos:exactMatch NCIT:C4056 Cervical Metaplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cervical metaplasia MONDO:0006143 cervical squamous cell carcinoma skos:closeMatch Orphanet:213767 Squamous cell carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279671 -MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial squamous cell carcinoma -MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma +MONDO:0006198 endometrial squamous cell carcinoma skos:exactMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial squamous cell carcinoma MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym endometrial undifferentiated carcinoma +MONDO:0006199 endometrial undifferentiated carcinoma skos:exactMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0006206 fallopian tube carcinoma skos:closeMatch Orphanet:180242 Malignant tumor of fallopian tubes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238122 MONDO:0006210 fibrolamellar hepatocellular carcinoma skos:closeMatch Orphanet:401920 Fibrolamellar hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334287 MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym granulocytic sarcoma MONDO:0006237 granulocytic sarcoma skos:exactMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym granulocytic sarcoma MONDO:0006238 growth hormone-producing pituitary gland adenoma skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label somatotropic adenoma MONDO:0006241 hepatic granuloma skos:exactMatch NCIT:C4936 Hepatic Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic granuloma -MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch NCIT:C43251 Histiocytic and Dendritic Cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch Orphanet:98287 Histiocytic and dendritic cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell tumor -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 +MONDO:0006247 histiocytic and dendritic cell neoplasm skos:closeMatch NCIT:C43251 Histiocytic and Dendritic Cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytic and dendritic cell MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydatidiform mole +MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 MONDO:0006248 hydatidiform mole skos:exactMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hydatidiform mole -MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020481 +MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 +MONDO:0006248 hydatidiform mole skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020481 MONDO:0006260 kidney medullary carcinoma skos:closeMatch Orphanet:319319 Renal medullary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064886 MONDO:0006270 lobular breast carcinoma in situ skos:closeMatch NCIT:C4018 Breast Lobular Carcinoma In Situ semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast lobular carcinoma in situ -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangioleiomyomatosis +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch NCIT:C3725 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch OMIM:606690 lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis -MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049459 -MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156240 -MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label advanced malignant mesothelioma -MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label diffuse malignant mesothelioma +MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C27926 Asbestos-Related Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label asbestos-related malignant mesothelioma +MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156240 MONDO:0006292 malignant mesothelioma skos:closeMatch Orphanet:50251 Pleural mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027406 +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C8420 Diffuse Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label diffuse malignant mesothelioma +MONDO:0006292 malignant mesothelioma skos:closeMatch NCIT:C7865 Advanced Malignant Mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label advanced malignant mesothelioma MONDO:0006306 mixed lobular and ductal breast carcinoma skos:closeMatch NCIT:C5160 Breast Mixed Ductal and Lobular Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast mixed ductal and lobular carcinoma MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0006311 myelodysplastic/myeloproliferative neoplasm skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0006312 myofibroma skos:closeMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile hemangiopericytoma MONDO:0006323 non-seminomatous lesion skos:exactMatch NCIT:C36127 Non-Seminomatous Lesion semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label non-seminomatous lesion -MONDO:0006329 olfactory neuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label esthesioneuroblastoma MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olfactory neuroblastoma MONDO:0006329 olfactory neuroblastoma skos:exactMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym olfactory neuroblastoma +MONDO:0006329 olfactory neuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label esthesioneuroblastoma MONDO:0006329 olfactory neuroblastoma skos:exactMatch NCIT:C6016 Paranasal Sinus Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label paranasal sinus olfactory neuroblastoma MONDO:0006335 ovarian endometrioid adenocarcinoma skos:closeMatch Orphanet:454723 Endometrioid carcinoma of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346163 MONDO:0006344 ovarian yolk sac tumor skos:closeMatch NCIT:C3011 Yolk Sac Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor MONDO:0006344 ovarian yolk sac tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yolk sac tumor -MONDO:0006345 palmar fibromatosis skos:exactMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dupuytren contracture MONDO:0006345 palmar fibromatosis skos:exactMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dupuytren contracture +MONDO:0006345 palmar fibromatosis skos:exactMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dupuytren contracture MONDO:0006346 pancreatic acinar cell carcinoma skos:closeMatch Orphanet:424046 Acinar cell carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279661 -MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma MONDO:0006363 peritoneal multicystic mesothelioma skos:closeMatch Orphanet:168816 Peritoneal cystic mesothelioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym benign multicystic peritoneal mesothelioma +MONDO:0006363 peritoneal multicystic mesothelioma skos:exactMatch NCIT:C3765 Multicystic Mesothelioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multicystic mesothelioma MONDO:0006372 pituicytoma skos:closeMatch Orphanet:251623 Pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2986550 -MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032000 MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035079 +MONDO:0006373 pituitary gland adenoma skos:closeMatch Orphanet:99408 Pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032000 MONDO:0006405 salivary gland small cell carcinoma skos:closeMatch NCIT:C173653 Salivary Gland Neuroendocrine Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland neuroendocrine carcinoma MONDO:0006412 sinus histiocytosis with massive lymphadenopathy skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063397 MONDO:0006427 spindle cell melanoma skos:closeMatch NCIT:C37257 Desmoplastic Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoplastic melanoma -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061031 MONDO:0006451 thymic carcinoma skos:exactMatch NCIT:C7612 Malignant Thymoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant thymoma -MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1322286 +MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061031 MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205969 -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 +MONDO:0006451 thymic carcinoma skos:closeMatch Orphanet:99868 Thymic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1322286 MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 -MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043670 MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013945 +MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043670 +MONDO:0006456 thymoma skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040100 MONDO:0006460 thyroglossal duct cyst skos:exactMatch NCIT:C85189 Thyroglossal Duct Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label thyroglossal duct cyst -MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238461 MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002240 -MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uterine carcinosarcoma +MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma skos:closeMatch Orphanet:142 Anaplastic thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238461 MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uterine carcinosarcoma -MONDO:0006486 uveal melanoma skos:closeMatch NCIT:C9088 Iris Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iris melanoma -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155720 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220633 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 +MONDO:0006485 uterine carcinosarcoma skos:exactMatch Orphanet:213610 Carcinosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uterine carcinosarcoma MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155720 +MONDO:0006486 uveal melanoma skos:closeMatch NCIT:C9088 Iris Melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iris melanoma +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iris melanoma MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal melanoma MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536494 -MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iris melanoma +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220633 +MONDO:0006486 uveal melanoma skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061252 MONDO:0006496 palsy skos:exactMatch NCIT:C116721 Palsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label palsy -MONDO:0006497 cerebral palsy skos:narrowMatch ICD10CM:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement MONDO:0006497 cerebral palsy skos:narrowMatch ICD10WHO:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement +MONDO:0006497 cerebral palsy skos:narrowMatch ICD10CM:G80.8 Other cerebral palsy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cerebral palsy semapv:RegularExpressionReplacement MONDO:0006502 acute respiratory distress syndrome skos:closeMatch NCIT:C155766 Acute Lung Injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury MONDO:0006502 acute respiratory distress syndrome skos:closeMatch Orphanet:178320 Acute lung injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute lung injury MONDO:0006507 hereditary hemochromatosis skos:exactMatch OMIM:235200 hemochromatosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hemochromatosis, hereditary -MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10WHO:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10CM:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement +MONDO:0006515 acute pancreatitis skos:narrowMatch ICD10WHO:K85.8 Other acute pancreatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acute pancreatitis semapv:RegularExpressionReplacement MONDO:0006516 sarcopenia skos:exactMatch NCIT:C186726 Sarcopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sarcopenia MONDO:0006517 childhood malignant neoplasm skos:closeMatch NCIT:C9305 Malignant Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant neoplasm MONDO:0006527 anhidrosis skos:exactMatch NCIT:C34385 Anhidrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anhidrosis MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital generalized lipodystrophy MONDO:0006536 congenital generalized lipodystrophy skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital generalized lipodystrophy MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10WHO:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0006545 erythema multiforme skos:narrowMatch ICD10WHO:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement +MONDO:0006541 epidermolysis bullosa skos:narrowMatch ICD10CM:Q81.8 Other epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0006545 erythema multiforme skos:narrowMatch ICD10CM:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement +MONDO:0006545 erythema multiforme skos:narrowMatch ICD10WHO:L51.8 Other erythema multiforme semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythema multiforme semapv:RegularExpressionReplacement MONDO:0006546 erythematosquamous dermatosis skos:narrowMatch DOID:9097 erythematosquamous dermatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym erythematosquamous dermatosis semapv:RegularExpressionReplacement MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label exanthem MONDO:0006547 exanthem skos:exactMatch NCIT:C111884 Exanthem semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exanthem MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 -MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019939 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019343 +MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019939 MONDO:0006558 pemphigoid gestationis skos:closeMatch Orphanet:63275 Pemphigoid gestationis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006559 MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hidradenitis suppurativa MONDO:0006559 hidradenitis suppurativa skos:exactMatch NCIT:C128429 Hidradenitis Suppurativa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hidradenitis suppurativa MONDO:0006559 hidradenitis suppurativa skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne inversa, familial MONDO:0006566 keratosis skos:exactMatch NCIT:C34747 Keratosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label keratosis -MONDO:0006572 lichen planus skos:narrowMatch ICD10WHO:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006572 lichen planus skos:closeMatch Orphanet:254367 Rare lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023646 +MONDO:0006572 lichen planus skos:narrowMatch ICD10WHO:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006572 lichen planus skos:narrowMatch ICD10CM:L43.8 Other lichen planus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lichen planus semapv:RegularExpressionReplacement MONDO:0006574 lipomatosis skos:exactMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym madelung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0006591 panniculitis skos:exactMatch NCIT:C112112 Panniculitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label panniculitis MONDO:0006592 parapsoriasis skos:narrowMatch ICD10WHO:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement MONDO:0006592 parapsoriasis skos:narrowMatch ICD10CM:L41.8 Other parapsoriasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym parapsoriasis semapv:RegularExpressionReplacement -MONDO:0006594 pemphigus skos:narrowMatch ICD10WHO:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement -MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.89 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 -MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 +MONDO:0006594 pemphigus skos:narrowMatch ICD10CM:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement +MONDO:0006594 pemphigus skos:narrowMatch ICD10WHO:L10.8 Other pemphigus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym pemphigus semapv:RegularExpressionReplacement MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036175 MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162839 +MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 +MONDO:0006602 porokeratosis skos:closeMatch Orphanet:79358 Porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017499 MONDO:0006604 rosacea skos:narrowMatch ICD10CM:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement MONDO:0006604 rosacea skos:narrowMatch ICD10WHO:L71.8 Other rosacea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rosacea semapv:RegularExpressionReplacement -MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement -MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10WHO:L21.8 Other seborrhoeic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrhoeic dermatitis semapv:RegularExpressionReplacement -MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042342 +MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement +MONDO:0006608 seborrheic dermatitis skos:narrowMatch ICD10CM:L21.8 Other seborrheic dermatitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic dermatitis semapv:RegularExpressionReplacement MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600336 -MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sneddon-wilkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0006614 subcorneal pustular dermatosis skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042342 MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label subcorneal pustular dermatosis +MONDO:0006617 vesiculobullous skin disease skos:closeMatch Orphanet:48377 Subcorneal pustular dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sneddon-wilkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria MONDO:0006618 vibratory urticaria skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vibratory urticaria MONDO:0006618 vibratory urticaria skos:exactMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vibratory urticaria MONDO:0006633 acalculous cholecystitis skos:closeMatch NCIT:C35579 Acute Acalculous Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute acalculous cholecystitis -MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206686 MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001388 -MONDO:0006640 adrenal gland hyperfunction skos:exactMatch NCIT:C113208 Hypercortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercortisolemia +MONDO:0006639 adrenal cortex carcinoma skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206686 MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 -MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperadrenocorticism +MONDO:0006640 adrenal gland hyperfunction skos:exactMatch NCIT:C113208 Hypercortisolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercortisolemia +MONDO:0006640 adrenal gland hyperfunction skos:exactMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercortisolism MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 +MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperadrenocorticism MONDO:0006640 adrenal gland hyperfunction skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 -MONDO:0006640 adrenal gland hyperfunction skos:exactMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypercortisolism MONDO:0006644 alcoholic liver cirrhosis skos:closeMatch NCIT:C35532 Portal Cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label portal cirrhosis -MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042165 +MONDO:0006651 anterior uveitis skos:closeMatch NCIT:C34736 Iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iridocyclitis MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002709 +MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042165 MONDO:0006651 anterior uveitis skos:closeMatch Orphanet:280886 Anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym iridocyclitis -MONDO:0006651 anterior uveitis skos:closeMatch NCIT:C34736 Iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label iridocyclitis -MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C50561 Fetal Asphyxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal asphyxia MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hypoxic and ischemic brain injury MONDO:0006663 perinatal asphyxia skos:closeMatch Orphanet:137577 Neonatal hypoxic and ischemic brain injury semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxic and ischemic brain injury in the newborn -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018817 -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068864 +MONDO:0006663 perinatal asphyxia skos:exactMatch NCIT:C50561 Fetal Asphyxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal asphyxia MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068864 +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018817 MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interatrial communication -MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003664 +MONDO:0006664 atrial septal defect skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bacterial endocarditis MONDO:0006669 bacterial endocarditis skos:exactMatch Orphanet:570762 Infective endocarditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bacterial endocarditis MONDO:0006670 bacterial meningitis skos:narrowMatch ICD10WHO:G00.8 Other bacterial meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym bacterial meningitis semapv:RegularExpressionReplacement @@ -2094,35 +2094,35 @@ MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohis MONDO:0006717 cutaneous fibrous histiocytoma skos:closeMatch NCIT:C170736 Pleomorphic Fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic fibroma MONDO:0006738 eccrine acrospiroma skos:closeMatch NCIT:C7563 Hidradenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hidradenoma MONDO:0006742 endemic goiter skos:exactMatch OMIM:138800 goiter, multinodular 1, with or without sertoli-leydig cell tumors semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simple goiter -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206630 -MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057649 MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018203 +MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057649 +MONDO:0006745 endometrioid stromal sarcoma skos:closeMatch Orphanet:213711 Endometrial stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206630 MONDO:0006757 extrahepatic cholestasis skos:exactMatch NCIT:C34420 Extrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extrahepatic cholestasis MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gastroparesis MONDO:0006769 gastroparesis skos:exactMatch NCIT:C80512 Gastroparesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroparesis MONDO:0006770 giant cell reparative granuloma skos:exactMatch NCIT:C173930 Central Giant Cell Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central giant cell granuloma MONDO:0006771 glossitis skos:exactMatch NCIT:C112199 Glossitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glossitis -MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label halo nevi MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym halo nevi +MONDO:0006778 halo nevus skos:exactMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label halo nevi MONDO:0006778 halo nevus skos:closeMatch OMIM:234300 halo nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoderma acquisitum centrifugum of sutton -MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helicobacter pylori infection, susceptibility to MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicobacter pylori infection, susceptibility to -MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 -MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym budd-chiari syndrome -MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome +MONDO:0006781 Helicobacter pylori infectious disease skos:closeMatch OMIM:600263 helicobacter pylori infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helicobacter pylori infection, susceptibility to MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 +MONDO:0006786 hepatic vein thrombosis skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 +MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym budd-chiari syndrome +MONDO:0006786 hepatic vein thrombosis skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label budd-chiari syndrome MONDO:0006787 hidrocystoma skos:closeMatch NCIT:C2972 Cystadenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystadenoma MONDO:0006789 hyperamylasemia skos:exactMatch NCIT:C113755 Hyperamylasemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperamylasemia -MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperemesis gravidarum MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperemesis gravidarum +MONDO:0006791 hyperemesis gravidarum skos:exactMatch NCIT:C87084 Hyperemesis Gravidarum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperemesis gravidarum MONDO:0006805 intermediate coronary syndrome skos:exactMatch NCIT:C66911 Unstable Angina semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label unstable angina MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022557 -MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 -MONDO:0006806 intermediate uveitis skos:closeMatch NCIT:C34903 Pars Planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis MONDO:0006806 intermediate uveitis skos:closeMatch OMIM:606177 pars planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pars planitis +MONDO:0006806 intermediate uveitis skos:closeMatch NCIT:C34903 Pars Planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis +MONDO:0006806 intermediate uveitis skos:closeMatch Orphanet:279914 Intermediate uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042166 MONDO:0006806 intermediate uveitis skos:closeMatch OMIM:606177 pars planitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pars planitis MONDO:0006810 intracranial hypertension skos:exactMatch NCIT:C84791 Intracranial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intracranial hypertension MONDO:0006811 intracranial hypotension skos:narrowMatch ICD10CM:G96.819 Other intracranial hypotension semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym intracranial hypotension semapv:RegularExpressionReplacement @@ -2139,12 +2139,12 @@ MONDO:0006835 lipoid nephrosis skos:closeMatch NCIT:C35540 Nephrotic Syndrome wi MONDO:0006840 lymphangiectasis skos:closeMatch NCIT:C97087 Lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia MONDO:0006846 malignant hypertension skos:exactMatch NCIT:C3118 Malignant Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant hypertension MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 -MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025048 -MONDO:0006861 myeloid sarcoma skos:closeMatch NCIT:C35815 Granulocytic Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulocytic sarcoma -MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulocytic sarcoma +MONDO:0006851 meconium aspiration syndrome skos:closeMatch Orphanet:70588 Meconium aspiration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008471 MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 +MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulocytic sarcoma MONDO:0006861 myeloid sarcoma skos:closeMatch Orphanet:86850 Myeloid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023981 +MONDO:0006861 myeloid sarcoma skos:closeMatch NCIT:C35815 Granulocytic Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulocytic sarcoma MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal myasthenia gravis MONDO:0006866 neonatal myasthenia gravis skos:exactMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neonatal myasthenia gravis MONDO:0006874 obstructive jaundice skos:exactMatch NCIT:C34742 Obstructive Jaundice semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label obstructive jaundice @@ -2153,176 +2153,176 @@ MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apople MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010899 MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032001 MONDO:0006908 pituitary apoplexy skos:closeMatch Orphanet:95613 Pituitary apoplexy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056447 -MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035083 +MONDO:0006909 pituitary dwarfism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013338 MONDO:0006909 pituitary dwarfism skos:exactMatch NCIT:C34555 Pituitary Dwarfism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituitary dwarfism MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025295 -MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027253 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008586 +MONDO:0006913 pneumococcal meningitis skos:closeMatch Orphanet:55655 Pneumococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027253 MONDO:0006918 posterior uveitis skos:exactMatch NCIT:C35111 Posterior Uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis -MONDO:0006918 posterior uveitis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036370 MONDO:0006918 posterior uveitis skos:closeMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042167 +MONDO:0006918 posterior uveitis skos:exactMatch Orphanet:280892 Posterior uveitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label posterior uveitis MONDO:0006921 Actinomycetales infectious disease skos:closeMatch NCIT:C34350 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis MONDO:0006921 Actinomycetales infectious disease skos:closeMatch Orphanet:457095 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis MONDO:0006926 haemophilus infectious disease skos:closeMatch NCIT:C34654 Hemophilus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilus infection MONDO:0006927 Rickettsiaceae infectious disease skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rickettsialpox -MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006936 pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0006937 pulpitis skos:exactMatch NCIT:C52595 Pulpitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulpitis -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034686 -MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037904 +MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 +MONDO:0006941 rat-bite fever skos:closeMatch Orphanet:31205 Rat-bite fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011906 MONDO:0006946 renal osteodystrophy skos:exactMatch NCIT:C114827 Renal Osteodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal osteodystrophy MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renovascular hypertension MONDO:0006947 renovascular hypertension skos:exactMatch NCIT:C85044 Renovascular Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renovascular hypertension -MONDO:0006952 retinopathy of prematurity skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinopathy of prematurity MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 -MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038933 MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012178 +MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038933 MONDO:0006952 retinopathy of prematurity skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 +MONDO:0006952 retinopathy of prematurity skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinopathy of prematurity MONDO:0006956 Rickettsiosis skos:closeMatch Orphanet:102021 Rickettsial disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035585 MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10WHO:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement MONDO:0006966 secondary Parkinson disease skos:narrowMatch ICD10CM:G21.8 Other secondary parkinsonism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym secondary parkinsonism semapv:RegularExpressionReplacement MONDO:0006970 sialolithiasis skos:exactMatch NCIT:C34994 Salivary Gland Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label salivary gland stone MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 -MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037661 MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013005 +MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037661 MONDO:0006976 somatostatinoma skos:closeMatch Orphanet:97283 Somatostatinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041329 MONDO:0006977 spermatocele skos:exactMatch NCIT:C120909 Spermatocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatocele MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0006995 tethered spinal cord syndrome skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0007000 Treponema infectious disease skos:closeMatch NCIT:C85197 Treponemal Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treponemal infection MONDO:0007009 ureterolithiasis skos:exactMatch NCIT:C26902 Ureteric Stone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ureteric stone -MONDO:0007015 viral meningitis skos:narrowMatch ICD10WHO:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement MONDO:0007015 viral meningitis skos:narrowMatch ICD10CM:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement +MONDO:0007015 viral meningitis skos:narrowMatch ICD10WHO:A87.8 Other viral meningitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral meningitis semapv:RegularExpressionReplacement +MONDO:0007023 Yersinia infectious disease skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 MONDO:0007023 Yersinia infectious disease skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 -MONDO:0007023 Yersinia infectious disease skos:exactMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yersiniosis -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265234 MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bor syndrome +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265234 +MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071135 MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019280 -MONDO:0007029 branchio-oto-renal syndrome skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071135 -MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal dysplasia MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melnick-fraser syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome +MONDO:0007029 branchio-oto-renal syndrome skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootorenal dysplasia MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog-scott syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome, autosomal dominant -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome, autosomal dominant -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome -MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog-scott syndrome MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100050 +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome, autosomal dominant +MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aarskog syndrome, autosomal dominant MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033770 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100100 MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 MONDO:0007032 prune belly syndrome skos:closeMatch OMIM:100100 prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism -MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011535 -MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abducens palsy -MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27593 Abducens Nerve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens nerve disorder semapv:RegularExpressionReplacement +MONDO:0007032 prune belly syndrome skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051025 MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27592 Cranial Nerve VI Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial nerve vi palsy MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens palsy +MONDO:0007033 abducens nerve palsy skos:closeMatch NCIT:C27593 Abducens Nerve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abducens nerve disorder semapv:RegularExpressionReplacement +MONDO:0007033 abducens nerve palsy skos:closeMatch OMIM:100200 abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abducens palsy MONDO:0007034 Adams-Oliver syndrome skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265268 MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 MONDO:0007034 Adams-Oliver syndrome skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538225 +MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acanthosis nigricans MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acanthosis nigricans -MONDO:0007035 acanthosis nigricans skos:exactMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acanthosis nigricans +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 +MONDO:0007037 achondroplasia skos:closeMatch OMIM:100800 achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ach MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000452 -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001080 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100800 -MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000130 -MONDO:0007037 achondroplasia skos:closeMatch OMIM:100800 achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ach -MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant compelling helioophthalmic outburst syndrome -MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photic sneeze reflex +MONDO:0007037 achondroplasia skos:closeMatch Orphanet:15 Achondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001080 MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sneezing from light exposure MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroutka sneeze -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101000 +MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photic sneeze reflex +MONDO:0007038 Achoo syndrome skos:closeMatch OMIM:100820 achoo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant compelling helioophthalmic outburst syndrome MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009464 -MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029271 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101000 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027832 +MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:637 Full NF2-related schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029271 MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic neurinoma, bilateral MONDO:0007039 neurofibromatosis type 2 skos:closeMatch OMIM:101000 neurofibromatosis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acoustic schwannomas, bilateral MONDO:0007039 neurofibromatosis type 2 skos:closeMatch Orphanet:252175 Vestibular schwannoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000523 MONDO:0007040 Sakati-Nyhan syndrome skos:closeMatch OMIM:101120 acrocephalopolysyndactyly iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acps type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apert-crouzon disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt cephalodactyly -MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007041 apert syndrome skos:closeMatch OMIM:101200 apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101200 MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001193 +MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007041 apert syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002943 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101400 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175699 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chotzen syndrome MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, epicanthus inversus, and ptosis type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saethre-chotzen syndrome with eyelid anomalies MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrocephaly, skull asymmetry, and mild syndactyly -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial-skeletal-dermatologic dysplasia +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chotzen syndrome +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch OMIM:101400 saethre-chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saethre-chotzen syndrome with eyelid anomalies +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101400 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 +MONDO:0007042 Saethre-Chotzen syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175699 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acs type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noack syndrome +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial-skeletal-dermatologic dysplasia MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:87 Apert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000168 -MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220658 +MONDO:0007043 Pfeiffer syndrome skos:closeMatch OMIM:101600 pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noack syndrome MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 +MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:710 Pfeiffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220658 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93259 Pfeiffer syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93260 Pfeiffer syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 MONDO:0007043 Pfeiffer syndrome skos:closeMatch Orphanet:93258 Pfeiffer syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101600 -MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 +MONDO:0007044 acrodysostosis 1 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 +MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931762 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538182 -MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931762 MONDO:0007045 acrofacial dysostosis, Catania type skos:closeMatch Orphanet:1786 Acrofacial dysostosis, Catania type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101805 -MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoderma, hereditary papulotranslucent MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrokeratoderma, hereditary papulotranslucent -MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101850 +MONDO:0007046 hereditary papulotranslucent acrokeratoderma skos:closeMatch OMIM:101840 acrokeratoderma, hereditary papulotranslucent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoderma, hereditary papulotranslucent MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535653 +MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101850 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch Orphanet:38 Acrokeratoelastoidosis of Costa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0545044 MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrokeratoelastoidosis MONDO:0007047 punctate palmoplantar keratoderma type III skos:closeMatch OMIM:101850 palmoplantar keratoderma, punctate iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenous plaques of hands and feet -MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265971 MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101900 +MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265971 MONDO:0007048 acrokeratosis verruciformis skos:closeMatch Orphanet:79151 Acrokeratosis verruciformis of Hopf semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069445 MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma skos:closeMatch OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosenthal-kloepfer syndrome -MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thick lips and oral mucosa MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afa syndrome -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated familial somatotropinoma -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma, familial isolated +MONDO:0007051 acromegaloid facial appearance syndrome skos:closeMatch OMIM:102150 acromegaloid facial appearance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thick lips and oral mucosa MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma, familial isolated -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma predisposition -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotropinoma, familial isolated MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:314777 Familial isolated pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatotrophinoma, familial +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch OMIM:102200 pituitary adenoma 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated familial somatotropinoma MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ekbom syndrome MONDO:0007053 restless legs syndrome, susceptibility to, 1 skos:closeMatch OMIM:102300 restless legs syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromelalgia, hereditary MONDO:0007054 acromial dimples skos:closeMatch OMIM:102350 acromial dimples semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supraspinous fossae, congenital @@ -2330,121 +2330,121 @@ MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dyspl MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 MONDO:0007055 acromicric dysplasia skos:closeMatch Orphanet:969 Acromicric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535662 MONDO:0007056 acroosteolysis skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102400 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930971 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917715 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 -MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102500 MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 -MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102510 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535663 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102500 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531695 +MONDO:0007057 acroosteolysis dominant type skos:closeMatch Orphanet:955 Hajdu-Cheney syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930971 MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863307 -MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102520 +MONDO:0007058 acropectorovertebral dysplasia skos:closeMatch Orphanet:957 Acropectorovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102510 MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495490 -MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia +MONDO:0007059 acrorenal syndrome skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102520 MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrosome malformation of spermatozoa +MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatozoa, round-headed MONDO:0007060 spermatogenic failure 6 skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round-headed spermatozoa +MONDO:0007060 spermatogenic failure 6 skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 MONDO:0007060 spermatogenic failure 6 skos:closeMatch Orphanet:171709 Male infertility due to globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102530 -MONDO:0007060 spermatogenic failure 6 skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia -MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102650 MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of hand, unilateral MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adactylia, unilateral MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch OMIM:102650 adactylia, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adactylia, unilateral +MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral skos:closeMatch Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102650 +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, delayed onset +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066367 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:narrowMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym adenosine deaminase deficiency semapv:RegularExpressionReplacement +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, late-onset +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine deaminase deficiency, partial MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102700 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531816 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066367 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch Orphanet:277 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102700 -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, delayed onset -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine deaminase deficiency, partial -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid due to ada deficiency, late-onset -MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine triphosphate, elevated, of erythrocytes MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine triphosphate, elevated, of erythrocytes -MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 +MONDO:0007067 pyruvate kinase hyperactivity skos:closeMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine triphosphate, elevated, of erythrocytes MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103050 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 +MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268126 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch Orphanet:46 Adenylosuccinate lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538235 MONDO:0007068 adenylosuccinate lyase deficiency skos:closeMatch OMIM:103050 adenylosuccinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsl deficiency MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103200 +MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001529 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001294 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 -MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001529 MONDO:0007070 adiposis dolorosa skos:closeMatch Orphanet:36397 Adiposis dolorosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000274 MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103230 MONDO:0007071 adrenocortical hypofunction, chronic primary congenital skos:closeMatch OMIM:103230 adrenocortical hypofunction, chronic primary congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863204 +MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538052 MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103285 MONDO:0007072 ADULT syndrome skos:closeMatch OMIM:103285 adult syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome -MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acro-dermato-ungual-lacrimal-tooth syndrome -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia-hypodactylia -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103300 -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia-hypodactylia -MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aglossia-adactylia +MONDO:0007072 ADULT syndrome skos:closeMatch Orphanet:978 ADULT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863204 MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peromelia with micrognathism +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aglossia-adactylia +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia-hypodactylia +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia-hypodactylia MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch OMIM:103300 hypoglossia-hypodactylia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oromandibular limb hypoplasia -MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrimia congenita, autosomal dominant +MONDO:0007073 hypoglossia-hypodactyly syndrome skos:closeMatch Orphanet:989 Hypoglossia-hypodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103300 MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103420 +MONDO:0007075 alacrima, congenital, autosomal dominant skos:closeMatch OMIM:103420 alacrima, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrimia congenita, autosomal dominant MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103500 +MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391816 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536919 -MONDO:0007077 Tietz syndrome skos:closeMatch Orphanet:42665 Tietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391816 MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103580 -MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3494506 MONDO:0007078 pseudohypoparathyroidism type 1A skos:exactMatch NCIT:C118434 Albright's Hereditary Osteodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albrights hereditary osteodystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch Orphanet:79443 Pseudohypoparathyroidism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3494506 MONDO:0007078 pseudohypoparathyroidism type 1A skos:closeMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, squamous cell, alcohol-related, protection against MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol dependence, protection against -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch NCIT:C127161 Familial Hyperaldosteronism Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 1 +MONDO:0007079 alcohol dependence skos:closeMatch OMIM:103780 alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, squamous cell, alcohol-related, protection against MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid-suppressible hyperaldosteronism -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-dependent hyperaldosteronism syndrome -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hyperaldosteronism type i -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260386 MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103900 -MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, sensitive to dexamethasone +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260386 +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch Orphanet:403 Familial hyperaldosteronism type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hyperaldosteronism type i +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-dependent hyperaldosteronism syndrome +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:exactMatch NCIT:C127161 Familial Hyperaldosteronism Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 1 +MONDO:0007080 glucocorticoid-remediable aldosteronism skos:closeMatch OMIM:103900 hyperaldosteronism, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, sensitive to dexamethasone +MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 +MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104000 MONDO:0007082 alopecia areata 1 skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis -MONDO:0007082 alopecia areata 1 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch OMIM:104130 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537057 -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863090 MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome skos:closeMatch Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104130 -MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:88918 Autosomal dominant Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 +MONDO:0007086 autosomal dominant Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104200 MONDO:0007087 alternating hemiplegia of childhood 1 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104290 -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presenile and senile dementia MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presenile and senile dementia +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, early-onset, with cerebral amyloid angiopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104300 MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:163729 NOS3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104300 +MONDO:0007088 Alzheimer disease type 1 skos:closeMatch OMIM:104300 alzheimer disease, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007089 Alzheimer disease 2 skos:closeMatch OMIM:104310 alzheimer disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 2, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007089 Alzheimer disease 2 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104310 -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 -MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, hereditary localized +MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104500 MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic local, autosomal dominant +MONDO:0007092 amelogenesis imperfecta type 1B skos:closeMatch OMIM:104500 amelogenesis imperfecta, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, hereditary localized MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863012 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch OMIM:104510 amelogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism +MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104510 MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 MONDO:0007094 amelogenesis imperfecta type 1A skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104530 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelo-onycho-hypohidrotic syndrome @@ -2452,68 +2452,68 @@ MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Ame MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538245 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104570 MONDO:0007095 ameloonychohypohidrotic syndrome skos:closeMatch Orphanet:1028 Amelo-onycho-hypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863006 -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis due to mutant gelsolin MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105120 -MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cranial neuropathy with lattice corneal dystrophy +MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agel amyloidosis MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis due to mutant gelsolin MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, gsn-related -MONDO:0007097 Finnish type amyloidosis skos:closeMatch Orphanet:85448 AGel amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agel amyloidosis -MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, cst3-related -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 +MONDO:0007097 Finnish type amyloidosis skos:closeMatch OMIM:105120 amyloidosis, finnish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cranial neuropathy with lattice corneal dystrophy +MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis +MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, cst3-related MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 -MONDO:0007098 ACys amyloidosis skos:exactMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary cerebral hemorrhage with amyloidosis +MONDO:0007098 ACys amyloidosis skos:closeMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, cst3-related +MONDO:0007098 ACys amyloidosis skos:closeMatch Orphanet:100008 ACys amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105150 MONDO:0007099 familial visceral amyloidosis skos:closeMatch Orphanet:85450 Hereditary amyloidosis with primary renal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105200 MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic nonneuropathic MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyloidosis, familial visceral MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007099 familial visceral amyloidosis skos:closeMatch OMIM:105200 amyloidosis, familial visceral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial visceral +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cardiomyopathy, transthyretin-related +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transthyretin amyloidosis +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, leptomeningeal, transthyretin-related +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid polyneuropathy, familial +MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary amyloidosis, transthyretin-related MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label attrv30m amyloidosis MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206245 -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary amyloidosis, transthyretin-related MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85447 ATTRV30M amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, leptomeningeal, transthyretin-related -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid cardiomyopathy, transthyretin-related MONDO:0007100 familial amyloid neuropathy skos:closeMatch Orphanet:85451 ATTRV122I amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105210 -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transthyretin amyloidosis -MONDO:0007100 familial amyloid neuropathy skos:closeMatch OMIM:105210 amyloidosis, hereditary, transthyretin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloid polyneuropathy, familial MONDO:0007101 familial primary localized cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary localized cutaneous amyloidosis +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, sporadic MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement -MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, sporadic MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:exactMatch NCIT:C168749 Amyotrophic Lateral Sclerosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 1 semapv:RegularExpressionReplacement MONDO:0007103 amyotrophic lateral sclerosis type 1 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105400 -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch Orphanet:90020 Parkinson-dementia complex of Guam semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc -MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888102 MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105550 +MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:closeMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0007107 anal sphincter myopathy, internal skos:closeMatch OMIM:105565 anal sphincter myopathy, internal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proctalgia fugax due to anal sphincter myopathy MONDO:0007108 anal canal carcinoma skos:closeMatch OMIM:105580 anal canal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloacogenic carcinoma +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroreticulosis, hereditary benign MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271934 MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 3 semapv:RegularExpressionReplacement MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:98870 Congenital dyserythropoietic anemia type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroreticulosis, hereditary benign -MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia with multinucleated erythroblasts MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105600 -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 +MONDO:0007109 congenital dyserythropoietic anemia type 3 skos:closeMatch OMIM:105600 anemia, congenital dyserythropoietic, iia iiia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia with multinucleated erythroblasts MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aplasia, pure, hereditary -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aregenerative anemia, chronic congenital +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital hypoplastic, of blackfan and diamond MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital erythroid hypoplastic +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital hypoplastic, of blackfan and diamond -MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aregenerative anemia, chronic congenital MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrogenesis imperfecta +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase syndrome +MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105650 MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch OMIM:105800 aneurysm, intracranial berry, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysmal subarachnoid hemorrhage, familial @@ -2522,91 +2522,91 @@ MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneur MONDO:0007112 interventricular septum aneurysm skos:closeMatch OMIM:105805 aneurysm of interventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm of interventricular septum MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1387721 MONDO:0007112 interventricular septum aneurysm skos:closeMatch Orphanet:99092 Interventricular septum aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105805 -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049004 +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105830 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017204 -MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105830 +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162635 +MONDO:0007113 Angelman syndrome skos:closeMatch Orphanet:72 Angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049004 MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman syndrome chromosome region MONDO:0007113 Angelman syndrome skos:closeMatch OMIM:105830 angelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym happy puppet syndrome, formerly -MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066017 +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angel-shaped phalangoepiphyseal dysplasia MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angel-shaped phalangoepiphyseal dysplasia +MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066017 MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105835 -MONDO:0007114 angel-shaped phalango-epiphyseal dysplasia skos:closeMatch OMIM:105835 angel-shaped phalangoepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angel-shaped phalangoepiphyseal dysplasia MONDO:0007115 angioma serpiginosum, autosomal dominant skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106050 +MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal arterial venous malformations with cutaneous hemangiomas MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, hereditary neurocutaneous MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, disseminated -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal arterial venous malformations with cutaneous hemangiomas -MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, hereditary neurocutaneous MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary neurocutaneous malformation MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch Orphanet:1062 Hereditary neurocutaneous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106070 -MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated generalized anhidrosis with normal sweat glands +MONDO:0007116 hereditary neurocutaneous angioma skos:closeMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, hereditary neurocutaneous MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106190 +MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch Orphanet:468666 Isolated generalized anhidrosis with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated generalized anhidrosis with normal sweat glands MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anhidrosis, isolated, with normal sweat glands MONDO:0007118 isolated anhidrosis with normal sweat glands skos:closeMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anhidrosis, isolated, with normal sweat glands -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106220 MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862868 -MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia and absent patella +MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch Orphanet:1069 Aniridia-absent patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106220 MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia and absent patella -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum and cleft palate -MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon filiforme adnatum and cleft palate +MONDO:0007120 aniridia-absent patella syndrome skos:closeMatch OMIM:106220 aniridia and absent patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia and absent patella MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536373 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106250 MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon-ectodermal defects-cleft lip/palate -MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum and cleft palate +MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome skos:closeMatch OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon filiforme adnatum and cleft palate MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106260 MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aec syndrome +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon-ectodermal defects-cleft lip/palate MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome skos:closeMatch NCIT:C157576 Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon-ectodermal defects-cleft lip/palate MONDO:0007125 ankyloglossia skos:closeMatch OMIM:106280 ankyloglossia with or without tooth anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'tongue-tie' -MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing spondylitis, susceptibility to MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie-strumpell spondylitis MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bechterew syndrome -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis +MONDO:0007126 spondyloarthropathy, susceptibility to, 1 skos:closeMatch OMIM:106300 spondyloarthropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing spondylitis, susceptibility to MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis -MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis +MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch Orphanet:2206 Ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankylosing vertebral hyperostosis with tylosis MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:closeMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosing vertebral hyperostosis with tylosis -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia with orofacial cleft +MONDO:0007127 diffuse idiopathic skeletal hyperostosis skos:exactMatch OMIM:106400 ankylosing vertebral hyperostosis with tylosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse idiopathic skeletal hyperostosis +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym second premolars and third molars, absence of MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106600 -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, with orofacial cleft +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia with orofacial cleft MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, familial -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym second premolars and third molars, absence of -MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return +MONDO:0007129 tooth agenesis, selective, 1 skos:closeMatch OMIM:106600 tooth agenesis, selective, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, with orofacial cleft +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome -MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch Orphanet:99125 Congenital total pulmonary venous return anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106700 -MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862844 +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total anomalous pulmonary venous return type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106750 -MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia-onychodystrophy with hypoplasia or absence of distal phalanges -MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +MONDO:0007131 anonychia with flexural pigmentation skos:closeMatch Orphanet:69125 Anonychia with flexural pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862844 MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106995 MONDO:0007134 Cooks syndrome skos:closeMatch Orphanet:1487 Cooks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862841 -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 +MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +MONDO:0007134 Cooks syndrome skos:closeMatch OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onychodystrophy with hypoplasia or absence of distal phalanges +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia and onychodystrophy MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, partial -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch OMIM:107000 nail disorder, nonsyndromic congenital, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia and onychodystrophy -MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorectal anomalies +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107000 +MONDO:0007135 nonsyndromic congenital nail disorder 6 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorectal anomalies +MONDO:0007136 genetic anorectal anomalies skos:closeMatch OMIM:107100 anorectal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorectal anomalies MONDO:0007136 genetic anorectal anomalies skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107100 MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, isolated congenital MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmia, congenital -MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107200 MONDO:0007137 isolated congenital anosmia skos:closeMatch OMIM:107200 anosmia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anosmia, isolated congenital +MONDO:0007137 isolated congenital anosmia skos:closeMatch Orphanet:88620 Isolated congenital anosmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107200 MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment ocular dysgenesis MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis MONDO:0007138 anterior segment dysgenesis 1 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107250 @@ -2614,109 +2614,109 @@ MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265246 MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome MONDO:0007142 Townes-Brocks syndrome skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536974 -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rear syndrome MONDO:0007142 Townes-Brocks syndrome skos:exactMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label townes-brocks syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0007142 Townes-Brocks syndrome skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic arch anomaly with peculiar facies and mental retardation MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic arch anomaly with peculiar facies and mental retardation -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch OMIM:107500 aortic arch anomaly with peculiar facies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic arch anomaly with peculiar facies and mental retardation MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107500 +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537785 MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome skos:closeMatch Orphanet:1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862682 MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, nonsyndromic +MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital defect of skull and scalp MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, nonsyndromic MONDO:0007145 aplasia cutis congenita skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 -MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital defect of skull and scalp MONDO:0007145 aplasia cutis congenita skos:closeMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defect, congenital -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea/hypopnea syndrome MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apnea, obstructive sleep +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, obstructive sleep +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea/hypopnea syndrome +MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch NCIT:C19862 OSA semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osa MONDO:0007147 obstructive sleep apnea syndrome skos:exactMatch NCIT:C116337 Obstructive Sleep Apnea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obstructive sleep apnea -MONDO:0007147 obstructive sleep apnea syndrome skos:closeMatch OMIM:107650 apnea, obstructive sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, obstructive sleep MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcus corneae MONDO:0007150 arcus senilis skos:closeMatch OMIM:107800 arcus corneae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arcus corneae -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uhl anomaly -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, right ventricular dilated -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, right ventricular dilated MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uhl anomaly -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uhl anomaly MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108010 -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107970 +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007772 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108010 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bavm -MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007772 MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch OMIM:108010 arteriovenous malformations of the brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriovenous malformations -MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 +MONDO:0007154 arteriovenous malformations of the brain skos:closeMatch Orphanet:46724 Cerebral arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002538 MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 +MONDO:0007157 arthrogryposis, distal, type 1A skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108120 +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862472 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862472 MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch OMIM:108145 arthrogryposis, distal, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with oculomotor limitation and electroretinal abnormalities -MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108145 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 +MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch Orphanet:1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862471 -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch OMIM:108200 arthrogryposis, distal, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthroophthalmopathy, hereditary progressive MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537492 MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch OMIM:108300 stickler syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthroophthalmopathy, hereditary progressive +MONDO:0007160 Stickler syndrome type 1 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 MONDO:0007161 spermatogenic failure 2 skos:closeMatch OMIM:108420 spermatogenic failure 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspermiogenesis factor MONDO:0007161 spermatogenic failure 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108420 -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, paroxysmal, acetazolamide-responsive -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetazolamide-responsive hereditary paroxysmal cerebellar ataxia +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with nystagmus MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, familial paroxysmal -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic ataxia, nystagmus-associated +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetazolamide-responsive hereditary paroxysmal cerebellar ataxia +MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108500 MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellopathy, hereditary paroxysmal -MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with nystagmus MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720416 +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, paroxysmal, acetazolamide-responsive MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial paroxysmal ataxia -MONDO:0007163 episodic ataxia type 2 skos:closeMatch Orphanet:97 Familial paroxysmal ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108500 -MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007163 episodic ataxia type 2 skos:closeMatch OMIM:108500 episodic ataxia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic ataxia, nystagmus-associated MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970107 MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic ataxia type 1 MONDO:0007164 spastic ataxia 1 skos:closeMatch Orphanet:251282 Autosomal dominant spastic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108600 -MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital, with spastic ataxia -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862441 -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia with congenital miosis -MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108650 +MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007164 spastic ataxia 1 skos:closeMatch OMIM:108600 spastic ataxia 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia with congenital miosis +MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia with congenital miosis MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862441 +MONDO:0007165 spastic ataxia 7 skos:closeMatch Orphanet:1182 Spastic ataxia with congenital miosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108650 +MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital, with spastic ataxia MONDO:0007165 spastic ataxia 7 skos:closeMatch OMIM:108650 spastic ataxia 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108720 MONDO:0007167 atelosteogenesis type I skos:closeMatch OMIM:108720 atelosteogenesis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylohumerofemoral hypoplasia MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535396 -MONDO:0007167 atelosteogenesis type I skos:closeMatch Orphanet:1190 Atelosteogenesis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108720 MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii MONDO:0007168 atelosteogenesis type III skos:closeMatch Orphanet:56305 Atelosteogenesis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108721 MONDO:0007168 atelosteogenesis type III skos:closeMatch OMIM:108721 atelosteogenesis, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoiii MONDO:0007169 atherosclerosis susceptibility skos:closeMatch OMIM:108725 atherosclerosis susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atherogenic lipoprotein phenotype MONDO:0007170 atresia of external auditory canal and conductive deafness skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108760 -MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 -MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial, with conduction disturbance MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block +MONDO:0007171 atrial standstill 1 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108770 MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block +MONDO:0007171 atrial standstill 1 skos:closeMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial, with conduction disturbance MONDO:0007172 atrial septal defect 1 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108800 -MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502353 -MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108900 -MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007172 atrial septal defect 1 skos:closeMatch OMIM:108800 atrial septal defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007173 atrial septal defect 7 skos:closeMatch OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial septal defect type 7 with or without atrioventricular conduction defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108900 +MONDO:0007173 atrial septal defect 7 skos:closeMatch Orphanet:1479 Atrial septal defect-atrioventricular conduction defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502353 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024984 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108950 MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Ganong-Levine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024054 @@ -2724,147 +2724,147 @@ MONDO:0007174 Lown-Ganong-Levine syndrome skos:closeMatch Orphanet:844 Lown-Gano MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108985 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862382 MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch Orphanet:86813 Helicoid peripapillary chorioretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy +MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sveinsson chorioretinal atrophy MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helicoidal peripapillary chorioretinal degeneration MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sveinsson chorioretinal atrophy -MONDO:0007176 helicoid peripapillary chorioretinal degeneration skos:closeMatch OMIM:108985 sveinsson chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sveinsson chorioretinal atrophy -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862381 -MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109000 +MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 +MONDO:0007177 auriculoosteodysplasia skos:closeMatch Orphanet:114 Auriculoosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538271 MONDO:0007178 aurocephalosyndactyly skos:closeMatch OMIM:109050 aurocephalosyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auralcephalosyndactyly MONDO:0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities skos:closeMatch OMIM:109120 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement +MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinopontine atrophy MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nigrospinodentatal degeneration -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azorean neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007182 Machado-Joseph disease skos:closeMatch OMIM:109150 machado-joseph disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 3 semapv:RegularExpressionReplacement MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024408 MONDO:0007182 Machado-Joseph disease skos:closeMatch Orphanet:98757 Spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109150 MONDO:0007184 alopecia, androgenetic, 1 skos:closeMatch OMIM:109200 alopecia, androgenetic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baldness, male pattern MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862319 MONDO:0007185 Banki syndrome skos:closeMatch Orphanet:1228 Banki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109300 MONDO:0007186 gastroesophageal reflux disease skos:exactMatch NCIT:C92560 Gastroesophageal Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gastroesophageal reflux -MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastroesophageal reflux, pediatric MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ger -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies +MONDO:0007186 gastroesophageal reflux disease skos:closeMatch OMIM:109350 gastroesophageal reflux semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastroesophageal reflux, pediatric +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109400 MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004779 MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062804 -MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch Orphanet:377 Gorlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109400 -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109500 -MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862299 -MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basilar impression, primary +MONDO:0007187 nevoid basal cell carcinoma syndrome skos:closeMatch OMIM:109400 basal cell nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basilar impression, primary -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell malignancy, low-grade -MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls2 +MONDO:0007188 primary basilar invagination skos:closeMatch OMIM:109500 basilar impression, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basilar impression, primary +MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862299 +MONDO:0007188 primary basilar invagination skos:closeMatch Orphanet:2285 Primary basilar invagination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109500 MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic lymphocytic, b-cell +MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls2 +MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell malignancy, low-grade MONDO:0007190 leukemia, chronic lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109543 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004213 -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 +MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004943 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109650 -MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004943 +MONDO:0007191 Behcet disease skos:closeMatch Orphanet:117 Behçet disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001528 MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-amino acids, renal transport of MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-amino acids, renal transport of MONDO:0007192 beta-amino acids, renal transport of skos:closeMatch OMIM:109660 beta-amino acids, renal transport of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurine renal reabsorption -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 -MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109720 +MONDO:0007193 primary biliary cholangitis 1 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbc MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007194 familial bicuspid aortic valve skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aortic valve disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007195 bifid nose, autosomal dominant skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109740 -MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339085 MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109900 +MONDO:0007198 Ascher syndrome skos:closeMatch Orphanet:1253 Ascher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339085 MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110050 MONDO:0007200 blepharonasofacial malformation syndrome skos:closeMatch Orphanet:1252 Blepharonasofacial malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796197 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes without ovarian failure MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with ovarian failure -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis, ptosis, and epicanthus inversus MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes with duane retraction syndrome +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis, ptosis, and epicanthus inversus MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch OMIM:110100 blepharophimosis, ptosis, and epicanthus inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, ptosis, and epicanthus inversus -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpes type 1 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110100 -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome skos:closeMatch Orphanet:126 Blepharophimosis-ptosis-epicanthus inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220663 -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862259 -MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110150 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536236 +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862259 +MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch Orphanet:1259 Blepharoptosis-myopia-ectopia lentis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:110150 MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharoptosis, myopia, and ectopia lentis MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome skos:closeMatch OMIM:110150 blepharoptosis, myopia, and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis, myopia, and ectopia lentis -MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112200 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346072 +MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112200 MONDO:0007203 blue rubber bleb nevus skos:closeMatch Orphanet:1059 Blue rubber bleb nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536240 -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 -MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch OMIM:112240 cole-carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007204 Cole-Carpenter syndrome 1 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112240 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862177 MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with medullary fibrosarcoma MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch Orphanet:85182 Diaphyseal medullary stenosis-bone malignancy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112250 -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with malignant fibrous histiocytoma -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma -MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, limb-girdle, with bone fragility +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphyseal medullary stenosis with malignant fibrous histiocytoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal medullary stenosis with malignant fibrous histiocytoma +MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome skos:closeMatch OMIM:112250 diaphyseal medullary stenosis with malignant fibrous histiocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone dysplasia with malignant fibrous histiocytoma +MONDO:0007207 Böök syndrome skos:closeMatch OMIM:112300 book syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phc syndrome MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457014 MONDO:0007207 Böök syndrome skos:closeMatch Orphanet:1262 Böök syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112300 -MONDO:0007207 Böök syndrome skos:closeMatch OMIM:112300 book syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phc syndrome -MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432201 MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112310 +MONDO:0007208 Boomerang dysplasia skos:closeMatch Orphanet:1263 Boomerang dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536573 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112350 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862172 MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of legs, anterior, with dwarfism -MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weismann-netter syndrome MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxopachyosteose diaphysaire tibio-peroniere MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weismann-netter syndrome +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weismann-netter syndrome +MONDO:0007209 Weismann-Netter syndrome skos:closeMatch OMIM:112350 weismann-netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of legs, anterior, with dwarfism MONDO:0007209 Weismann-Netter syndrome skos:closeMatch Orphanet:3344 Weismann-Netter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537082 MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension and brachydactyly syndrome -MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862170 MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension and brachydactyly syndrome +MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862170 MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch Orphanet:1276 Brachydactyly-arterial hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112410 MONDO:0007211 brachydactyly-arterial hypertension syndrome skos:closeMatch OMIM:112410 hypertension and brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with hypertension -MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112430 MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862169 +MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch Orphanet:2946 Brachydactyly-long thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112430 MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-thumb brachydactyly syndrome MONDO:0007212 brachydactyly-long thumb syndrome skos:closeMatch OMIM:112430 long-thumb brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-thumb brachydactyly syndrome MONDO:0007213 Ballard syndrome skos:closeMatch OMIM:112440 brachydactyly, combined B and e types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, combined b and e types MONDO:0007213 Ballard syndrome skos:closeMatch OMIM:112440 brachydactyly, combined B and e types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly, combined b and e types +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862162 +MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly, preaxial, with hallux varus and thumb abduction MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch OMIM:112450 brachydactyly, preaxial, with hallux varus and thumb abduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly, preaxial, with hallux varus and thumb abduction -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112450 -MONDO:0007214 brachydactyly-preaxial hallux varus syndrome skos:closeMatch Orphanet:1278 Brachydactyly-preaxial hallux varus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862162 -MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 +MONDO:0007215 brachydactyly type A1 skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112500 MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862151 -MONDO:0007215 brachydactyly type A1 skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly -MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 +MONDO:0007215 brachydactyly type A1 skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537088 MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 MONDO:0007216 brachydactyly type A2 skos:closeMatch OMIM:112600 brachydactyly, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537089 MONDO:0007216 brachydactyly type A2 skos:closeMatch OMIM:112600 brachydactyly, iia a2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 semapv:RegularExpressionReplacement MONDO:0007216 brachydactyly type A2 skos:closeMatch Orphanet:93396 Brachydactyly type A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112600 MONDO:0007217 brachydactyly type A3 skos:closeMatch OMIM:112700 brachydactyly, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112800 MONDO:0007218 brachydactyly type A4 skos:closeMatch OMIM:112800 brachydactyly, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy type 2 and type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities +MONDO:0007218 brachydactyly type A4 skos:closeMatch Orphanet:93394 Brachydactyly type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112800 MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862130 +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch OMIM:112910 osebold-remondini syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osebold-remondini syndrome MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:112910 -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osebold-remondini syndrome -MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862130 +MONDO:0007219 Osebold-Remondini syndrome skos:closeMatch Orphanet:93382 Brachydactyly type A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537092 MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 MONDO:0007220 brachydactyly type B1 skos:closeMatch Orphanet:572385 Brachydactyly type B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113000 MONDO:0007221 brachydactyly type C skos:closeMatch Orphanet:93384 Brachydactyly type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537093 @@ -2876,34 +2876,34 @@ MONDO:0007223 brachydactyly type E1 skos:closeMatch Orphanet:93387 Brachydactyly MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113310 MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862100 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 -MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-ectrodactyly with fibular aplasia or hypoplasia MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch OMIM:113310 brachydactyly-ectrodactyly with fibular aplasia or hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-ectrodactyly with fibular aplasia or hypoplasia +MONDO:0007225 fibular aplasia-ectrodactyly syndrome skos:closeMatch Orphanet:1118 Fibular aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537930 MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-nystagmus-cerebellar ataxia MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch OMIM:113400 brachydactyly-nystagmus-cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-nystagmus-cerebellar ataxia MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome skos:closeMatch Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113400 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862092 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 -MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-distal symphalangism syndrome -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862092 -MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537338 MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-distal symphalangism syndrome +MONDO:0007227 Sillence syndrome skos:closeMatch OMIM:113450 brachydactyly-distal symphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-distal symphalangism syndrome +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 +MONDO:0007227 Sillence syndrome skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113450 MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metatarsus iv, short MONDO:0007229 Brachymetatarsus 4 skos:closeMatch OMIM:113475 brachymetatarsus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe, fourth, short MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536242 MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536242 MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862082 MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome skos:closeMatch Orphanet:1292 Brachymorphism-onychodysplasia-dysphalangism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113477 -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangy with characteristic facies and kallmann syndrome -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangy with characteristic facies and kallmann syndrome -MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113480 MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931421 +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch Orphanet:1295 Brachytelephalangy-dysmorphism-Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113480 +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangy with characteristic facies and kallmann syndrome +MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome skos:closeMatch OMIM:113480 brachytelephalangy with characteristic facies and kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangy with characteristic facies and kallmann syndrome MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch Orphanet:93304 Autosomal dominant brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113500 MONDO:0007232 autosomal dominant brachyolmia skos:closeMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachyrachia -MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cysts MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial cleft anomalies +MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cysts MONDO:0007233 second branchial cleft anomaly skos:closeMatch Orphanet:141022 Second branchial cleft anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113600 MONDO:0007233 second branchial cleft anomaly skos:closeMatch OMIM:113600 branchial cleft anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial cleft anomalies MONDO:0007235 branchiooculofacial syndrome skos:closeMatch Orphanet:1297 Branchio-oculo-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchio-oculo-facial syndrome @@ -2912,459 +2912,459 @@ MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchioo MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatous branchial clefts-lip pseudocleft syndrome MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging MONDO:0007235 branchiooculofacial syndrome skos:closeMatch OMIM:113620 branchiooculofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bof syndrome -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootorenal dysplasia -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-fraser syndrome -MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch NCIT:C98983 Melnick-Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-fraser syndrome MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113650 -MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophy of the breast, juvenile +MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch NCIT:C98983 Melnick-Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-fraser syndrome +MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-fraser syndrome +MONDO:0007236 branchiootorenal syndrome 1 skos:closeMatch OMIM:113650 branchiootorenal syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootorenal dysplasia MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophy of the breast, juvenile MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantomastia, juvenile +MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophy of the breast, juvenile MONDO:0007237 familial juvenile hypertrophy of the breast skos:closeMatch Orphanet:180176 Familial juvenile hypertrophy of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113670 +MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amastia MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia -MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breasts and/or nipples, aplasia or hypoplasia of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amastia -MONDO:0007238 amastia skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amastia +MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia +MONDO:0007238 amastia skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous ichthyosiform erythroderma MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic hyperkeratosis, late-onset MONDO:0007239 epidermolytic ichthyosis skos:closeMatch OMIM:113800 epidermolytic hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous erythroderma ichthyosiformis congenita of brocq MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113800 MONDO:0007239 epidermolytic ichthyosis skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant epidermolytic ichthyosis -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenegre-lev disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonprogressive -MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, progressive MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary bundle branch system defect +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, progressive +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonprogressive +MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenegre-lev disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch OMIM:113900 progressive familial heart block, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, nonprogressive MONDO:0007240 progressive familial heart block, type 1A skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113900 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067184 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053518 -MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006595 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067184 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113970 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 +MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006595 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0007243 Burkitt lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002051 -MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114000 MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020497 -MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861975 +MONDO:0007244 Caffey disease skos:closeMatch Orphanet:1310 Caffey disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114000 MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114030 -MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc, childhood-onset +MONDO:0007245 cafe au lait spots, multiple skos:closeMatch Orphanet:2678 Neurofibromatosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861975 MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral, childhood-onset +MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibgc, childhood-onset MONDO:0007247 basal ganglia calcification, idiopathic, childhood-onset skos:closeMatch OMIM:114100 basal ganglia calcification, idiopathic, childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label callosities, hereditary painful MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, painful plantar MONDO:0007248 hereditary painful callosities skos:closeMatch OMIM:114140 callosities, hereditary painful semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym callosities, hereditary painful -MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114140 MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861964 -MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 +MONDO:0007248 hereditary painful callosities skos:closeMatch Orphanet:79141 Hereditary painful callosities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114140 MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114150 MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 -MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 +MONDO:0007249 camptobrachydactyly skos:closeMatch Orphanet:1319 Camptobrachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537967 +MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly and knuckle pads MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007250 camptodactyly of fingers skos:closeMatch Orphanet:295016 Camptodactyly of fingers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114200 MONDO:0007250 camptodactyly of fingers skos:closeMatch OMIM:114200 camptodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streblodactyly -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acampomelic campomelic dysplasia with autosomal sex reversal -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptomelic dysplasia +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acampomelic campomelic dysplasia MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia with autosomal sex reversal -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd1/sra1 +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acampomelic campomelic dysplasia with autosomal sex reversal MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd -MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1 +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptomelic dysplasia +MONDO:0007251 campomelic dysplasia skos:closeMatch OMIM:114290 campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmpd1/sra1 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861922 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 -MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114290 MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055036 MONDO:0007251 campomelic dysplasia skos:closeMatch NCIT:C120205 Acampomelic Campomelic Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acampomelic campomelic dysplasia +MONDO:0007251 campomelic dysplasia skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114290 +MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220666 MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 -MONDO:0007252 Gordon syndrome skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 MONDO:0007252 Gordon syndrome skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, cleft palate, and clubfoot -MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer +MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast cancer MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast cancer +MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym breast cancer MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym breast cancer -MONDO:0007254 breast cancer skos:exactMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast cancer -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma +MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma caused by somatic mutation +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049010 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 +MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma -MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoblastoma caused by somatic mutation +MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C3728 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatoblastoma -MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C7927 Liver and Intrahepatic Bile Duct Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liver and intrahepatic bile duct carcinoma MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:33402 Pediatric hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049010 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:88673 Hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006528 MONDO:0007256 hepatocellular carcinoma skos:closeMatch Orphanet:210159 Adult hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114550 -MONDO:0007256 hepatocellular carcinoma skos:closeMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cancer +MONDO:0007256 hepatocellular carcinoma skos:closeMatch NCIT:C7927 Liver and Intrahepatic Bile Duct Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liver and intrahepatic bile duct carcinoma MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007257 candidiasis, familial, 1 skos:closeMatch OMIM:114580 candidiasis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmct MONDO:0007257 candidiasis, familial, 1 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114580 MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676032 MONDO:0007259 craniofaciofrontodigital syndrome skos:closeMatch Orphanet:363705 Craniofaciofrontodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114620 -MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfcs MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfc syndrome -MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007265 cardiofaciocutaneous syndrome 1 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115150 MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007266 hypertrophic cardiomyopathy 2 skos:closeMatch OMIM:115195 cardiomyopathy, familial hypertrophic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007267 hypertrophic cardiomyopathy 3 skos:closeMatch OMIM:115196 cardiomyopathy, familial hypertrophic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007268 hypertrophic cardiomyopathy 4 skos:closeMatch OMIM:115197 cardiomyopathy, familial hypertrophic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 4, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, idiopathic dilated -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial idiopathic -MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115210 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch OMIM:115200 cardiomyopathy, dilated, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007269 dilated cardiomyopathy 1A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115200 MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch OMIM:115210 cardiomyopathy, familial restrictive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rcm -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenoma, familial cutaneous -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenoma, familial cutaneous -MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115250 +MONDO:0007270 cardiomyopathy, familial restrictive, 1 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115210 MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406817 -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115300 -MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotenoids, plasma level of, quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007271 familial cutaneous collagenoma skos:closeMatch Orphanet:53296 Familial cutaneous collagenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115250 +MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenoma, familial cutaneous +MONDO:0007271 familial cutaneous collagenoma skos:closeMatch OMIM:115250 collagenoma, familial cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenoma, familial cutaneous MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypercarotenemia and vitamin a deficiency, autosomal dominant +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotenoids, plasma level of, quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115300 MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency skos:closeMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercarotenemia and vitamin a deficiency, autosomal dominant -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, hereditary extraadrenal -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors and multiple extraadrenal pheochromocytomas MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, extraadrenal, and cervical paraganglioma -MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, familial extraadrenal -MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115310 +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors and multiple extraadrenal pheochromocytomas MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, familial malignant +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, hereditary extraadrenal +MONDO:0007273 paragangliomas 4 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115310 +MONDO:0007273 paragangliomas 4 skos:closeMatch OMIM:115310 paragangliomas 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, familial extraadrenal MONDO:0007274 carpal displacement skos:closeMatch OMIM:115400 carpal displacement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpal bossing -MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpal tunnel syndrome -MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpal tunnel syndrome -MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carpal tunnel syndrome +MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carpal tunnel syndrome +MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpal tunnel syndrome +MONDO:0007275 carpal tunnel syndrome skos:exactMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpal tunnel syndrome MONDO:0007275 carpal tunnel syndrome skos:closeMatch OMIM:115430 carpal tunnel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, thenar, of carpal origin -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cat eye syndrome -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inv dup(22)(q11) MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 -MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115470 MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535918 -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22 partial tetrasomy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schmid-fraccaro syndrome MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat eye syndrome -MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, aberrant oral frenula, and growth retardation +MONDO:0007276 cat-eye syndrome skos:closeMatch Orphanet:195 Cat-eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265493 +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schmid-fraccaro syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22 partial tetrasomy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cat eye syndrome +MONDO:0007276 cat-eye syndrome skos:closeMatch OMIM:115470 cat eye syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inv dup(22)(q11) MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch Orphanet:1373 Cataract-aberrant oral frenula-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115645 MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, aberrant oral frenula, and growth retardation -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 -MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115650 +MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome skos:closeMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, aberrant oral frenula, and growth retardation +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar +MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar MONDO:0007278 cataract 32 multiple types skos:closeMatch OMIM:115650 cataract 32, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 32, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 +MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115650 +MONDO:0007278 cataract 32 multiple types skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 +MONDO:0007279 cataract 7 skos:closeMatch OMIM:115660 cataract 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007279 cataract 7 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 -MONDO:0007279 cataract 7 skos:closeMatch OMIM:115660 cataract 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007279 cataract 7 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115660 MONDO:0007280 cataract 8 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115665 -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 -MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 +MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007280 cataract 8 multiple types skos:closeMatch OMIM:115665 cataract 8, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 8, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, crystalline aculeiform MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, nonnuclear polymorphic congenital -MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 4, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007281 cataract 4 multiple types skos:closeMatch OMIM:115700 cataract 4, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, punctate, progressive juvenile-onset -MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 +MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 +MONDO:0007281 cataract 4 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115700 MONDO:0007282 cataract 29 skos:closeMatch OMIM:115800 cataract 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 29, coralliform semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007282 cataract 29 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98990 Coralliform cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 +MONDO:0007282 cataract 29 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115800 MONDO:0007283 cataract 42 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:115900 -MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 -MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 +MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007284 cataract 20 multiple types skos:closeMatch OMIM:116100 cataract 20, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 20, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 +MONDO:0007284 cataract 20 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116100 MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, duffy-linked MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 MONDO:0007285 cataract 1 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116200 -MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007285 cataract 1 multiple types skos:closeMatch OMIM:116200 cataract 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, duffy-linked MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 MONDO:0007286 cataract 30 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 -MONDO:0007286 cataract 30 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116300 MONDO:0007286 cataract 30 skos:closeMatch OMIM:116300 cataract 30, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 30, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007287 cataract 41 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 MONDO:0007287 cataract 41 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116400 +MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related cortical, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007288 cataract 6 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116600 -MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007288 cataract 6 multiple types skos:closeMatch OMIM:116600 cataract 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch OMIM:116700 cataract 13 with adult i phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 13 with adult i phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007289 cataract 13 with adult I phenotype skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116700 -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 -MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 5, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007290 cataract 5 multiple types skos:closeMatch OMIM:116800 cataract 5, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, lamellar -MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116800 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lad1 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 +MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 +MONDO:0007290 cataract 5 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535342 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfa1 immunodeficiency +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398738 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116920 +MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lad1 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch OMIM:602314 LAD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad1 MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:99842 Leukocyte adhesion deficiency type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535887 -MONDO:0007293 leukocyte adhesion deficiency 1 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lad -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central core disorder of muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0007294 central core myopathy skos:closeMatch OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cco MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751951 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363129 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:597 Central core disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 +MONDO:0007294 central core myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117000 MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376532 +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363129 MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117100 -MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bre MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bre -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117210 -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement +MONDO:0007295 childhood epilepsy with centrotemporal spikes skos:exactMatch OMIM:610497 BRE semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bre MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 16q22-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861736 +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch NCIT:C176901 Spinocerebellar Ataxia Type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement -MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch OMIM:117210 spinocerebellar ataxia 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861735 +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117210 +MONDO:0007296 spinocerebellar ataxia type 31 skos:closeMatch Orphanet:217012 Spinocerebellar ataxia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861736 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861735 +MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538209 MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:97346 ADan amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, familial danish -MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007297 ADan amyloidosis skos:closeMatch OMIM:117300 cerebral amyloid angiopathy, itm2b-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, cataract, deafness, and dementia or psychosis -MONDO:0007297 ADan amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117300 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of cerebellar vermis -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, congenital nonprogressive, autosomal dominant -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of cerebellar vermis +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861732 MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:208513 Spinocerebellar ataxia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117360 -MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome -MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q35 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 +MONDO:0007298 spinocerebellar ataxia type 29 skos:closeMatch OMIM:117360 spinocerebellar ataxia 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117550 MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sotos syndrome -MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome -MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism -MONDO:0007299 Sotos syndrome 1 skos:closeMatch NCIT:C75019 Sotos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome +MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q35 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism +MONDO:0007299 Sotos syndrome 1 skos:closeMatch NCIT:C75019 Sotos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome +MONDO:0007299 Sotos syndrome 1 skos:closeMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome +MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral gigantism +MONDO:0007299 Sotos syndrome 1 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sotos syndrome MONDO:0007300 cerebral sarcoma skos:closeMatch Orphanet:2030 Fibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117600 +MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265342 MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:117650 -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch Orphanet:1393 Cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265342 -MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rib gap defects with micrognathia MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrocostomandibular syndrome MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrocostomandibular syndrome +MONDO:0007301 cerebrocostomandibular syndrome skos:closeMatch OMIM:117650 cerebrocostomandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rib gap defects with micrognathia MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis skos:closeMatch OMIM:117850 cervical hypertrichosis with underlying kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, posterior cervical, with underlying kyphoscoliosis -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118100 -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal dominant -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch OMIM:118100 klippel-feil syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118100 +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270912 MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, slow nerve conduction type, linked to duffy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:101082 Charcot-Marie-Tooth disease type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118200 -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia1 +MONDO:0007307 Charcot-Marie-Tooth disease type 1B skos:closeMatch Orphanet:65753 Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia1 +MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch OMIM:118210 charcot-marie-tooth disease, axonal, iia 2a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia1 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118210 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 skos:closeMatch Orphanet:99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118220 MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270911 -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 +MONDO:0007309 Charcot-Marie-Tooth disease type 1A skos:closeMatch Orphanet:101081 Charcot-Marie-Tooth disease type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118220 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931686 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537986 MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy and deafness, autosomal dominant -MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:closeMatch Orphanet:90658 Charcot-Marie-Tooth disease type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118300 -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 +MONDO:0007311 Charcot-Marie-Tooth disease type 1E skos:exactMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267034 -MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118330 MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm -MONDO:0007315 cherubism skos:closeMatch OMIM:118400 cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm +MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535921 +MONDO:0007313 cheilitis glandularis skos:closeMatch Orphanet:1221 Cheilitis glandularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118330 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 +MONDO:0007315 cherubism skos:closeMatch OMIM:118400 cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm +MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 +MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crbm MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002636 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070535 MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118400 -MONDO:0007315 cherubism skos:closeMatch Orphanet:184 Cherubism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008029 MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 MONDO:0007316 Chiari malformation type I skos:closeMatch OMIM:118420 chiari malformation iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm1 with syringomyelia -MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056944 MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118420 -MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 -MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille syndrome +MONDO:0007316 Chiari malformation type I skos:closeMatch Orphanet:268882 Arnold-Chiari malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056944 MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille-watson syndrome MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arteriohepatic dysplasia +MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alagille syndrome MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 +MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016738 MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085280 MONDO:0007318 Alagille syndrome skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053870 -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium gout -MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis, familial articular MONDO:0007319 chondrocalcinosis 2 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118600 +MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis, familial articular +MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate dihydrate deposition disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007319 chondrocalcinosis 2 skos:closeMatch OMIM:118600 chondrocalcinosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcium pyrophosphate arthropathy MONDO:0007320 chondrocalcinosis due to apatite crystal deposition skos:closeMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial apatite disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to warfarin teratogenicity MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to vitamin k deficiency +MONDO:0007321 autosomal dominant chondrodysplasia punctata skos:closeMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata due to warfarin teratogenicity MONDO:0007322 chondrodysplasia punctata, tibial-metacarpal type skos:closeMatch Orphanet:79346 Chondrodysplasia punctata, tibial-metacarpal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118651 MONDO:0007325 choreoathetosis, familial inverted skos:closeMatch OMIM:118750 choreoathetosis, familial inverted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile choreoathetosis of fisher MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118830 -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indian childhood cirrhosis +MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic tyrolean infantile cirrhosis -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, noncryptogenic, susceptibility to +MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cirrhosis, familial +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, cryptogenic MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper-overload cirrhosis +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic tyrolean infantile cirrhosis +MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhosis, familial +MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cirrhosis, familial +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with pulmonary hypertension -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, cryptogenic +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, noncryptogenic, susceptibility to MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper toxicosis, idiopathic -MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cirrhosis, familial MONDO:0007329 cirrhosis, familial skos:closeMatch Orphanet:209919 Idiopathic copper-associated cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215600 -MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cirrhosis, familial -MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cirrhosis, familial -MONDO:0007329 cirrhosis, familial skos:exactMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cirrhosis, familial -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital pseudoarthrosis of the clavicle +MONDO:0007329 cirrhosis, familial skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indian childhood cirrhosis MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118980 -MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clavicle, pseudarthrosis of, congenital +MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch Orphanet:66630 Congenital pseudoarthrosis of the clavicle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital pseudoarthrosis of the clavicle MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clavicle, pseudarthrosis of, congenital -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency +MONDO:0007330 congenital pseudoarthrosis of clavicle skos:closeMatch OMIM:118980 clavicle, pseudarthrosis of, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clavicle, pseudarthrosis of, congenital +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft hand and absent tibia MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119100 -MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007332 split-hand/foot malformation with long bone deficiency 1 skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vdws -MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119300 MONDO:0007333 van der Woude syndrome 1 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip-pit syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym popliteal pterygium syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies +MONDO:0007333 van der Woude syndrome 1 skos:closeMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenitopopliteal syndrome +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome -MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119500 +MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label popliteal pterygium syndrome MONDO:0007334 autosomal dominant popliteal pterygium syndrome skos:exactMatch NCIT:C118786 Autosomal Dominant Popliteal Pterygium Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant popliteal pterygium syndrome +MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 +MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, nonsyndromic MONDO:0007335 orofacial cleft 1 skos:closeMatch OMIM:119530 orofacial cleft 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft, nonsyndromic -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 -MONDO:0007335 orofacial cleft 1 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119530 MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119540 -MONDO:0007336 isolated cleft palate skos:closeMatch NCIT:C87069 Cleft Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate -MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate +MONDO:0007336 isolated cleft palate skos:closeMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, isolated MONDO:0007336 isolated cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795898 -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome -MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 +MONDO:0007336 isolated cleft palate skos:closeMatch NCIT:C87069 Cleft Palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syngnathia MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch OMIM:119550 syngnathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syngnathia +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119550 +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795898 +MONDO:0007337 cleft palate-lateral synechia syndrome skos:closeMatch Orphanet:2016 Cleft palate-lateral synechia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpls syndrome MONDO:0007338 cleft soft palate skos:closeMatch Orphanet:99772 Cleft velum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119570 MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bcd syndrome MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861536 -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth -MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 -MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119600 +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007339 blepharocheilodontic syndrome skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0007339 blepharocheilodontic syndrome skos:exactMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bcd syndrome MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008928 MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 +MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002973 +MONDO:0007340 cleidocranial dysplasia skos:closeMatch Orphanet:1452 Cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119600 MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119650 MONDO:0007341 cleidorhizomelic syndrome skos:closeMatch Orphanet:1453 Cleidorhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861515 -MONDO:0007342 clubfoot skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 -MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly -MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 +MONDO:0007342 clubfoot skos:closeMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly MONDO:0007342 clubfoot skos:closeMatch NCIT:C188148 Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly +MONDO:0007342 clubfoot skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 MONDO:0007342 clubfoot skos:closeMatch Orphanet:293144 Familial clubfoot due to 5q31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital clubbing, isolated congenital +MONDO:0007342 clubfoot skos:closeMatch Orphanet:293150 Familial clubfoot due to PITX1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119800 MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clubbing of digits -MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropachy, hereditary +MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital clubbing, isolated congenital MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital clubbing, isolated congenital +MONDO:0007343 isolated congenital digital clubbing skos:closeMatch OMIM:119900 digital clubbing, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropachy, hereditary MONDO:0007343 isolated congenital digital clubbing skos:closeMatch Orphanet:217059 Isolated congenital digital clubbing semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119900 +MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coarctation of aorta +MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coarctation of aorta MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003492 +MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120000 MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009807 MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 -MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120000 -MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coarctation of aorta MONDO:0007345 aorta coarctation skos:closeMatch Orphanet:1457 Aorta coarctation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001017 -MONDO:0007345 aorta coarctation skos:closeMatch OMIM:120000 coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coarctation of aorta -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cochleosaccular degeneration with progressive cataracts -MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration with progressive cataracts MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch Orphanet:3233 Cochleosaccular degeneration-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120040 MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration +MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration with progressive cataracts +MONDO:0007346 cochleosaccular degeneration-cataract syndrome skos:closeMatch OMIM:120040 cochleosaccular degeneration with progressive cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cochleosaccular degeneration with progressive cataracts +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold hypersensitivity -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold-induced autoinflammatory syndrome, familial MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold-induced autoinflammatory syndrome, familial +MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold urticaria, familial MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120100 -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007349 familial cold autoinflammatory syndrome 1 skos:closeMatch OMIM:120100 familial cold autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcas -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, uveoretinal MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of iris, choroid, and retina -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 -MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch OMIM:120200 coloboma, ocular, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, uveoretinal MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98942 Coloboma of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 +MONDO:0007350 coloboma, ocular, autosomal dominant skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120200 MONDO:0007351 coloboma of macula skos:closeMatch Orphanet:98945 Coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120300 MONDO:0007351 coloboma of macula skos:closeMatch OMIM:120300 coloboma of macula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agenesis of macula MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillorenal syndrome -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic coloboma, vesicoureteral reflux, and renal anomalies -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve coloboma with renal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-coloboma syndrome -MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120330 MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillorenal syndrome +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-coloboma syndrome +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve coloboma with renal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007352 renal coloboma syndrome skos:closeMatch OMIM:120330 papillorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic coloboma, vesicoureteral reflux, and renal anomalies MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852759 -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852752 -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apical dystrophy -MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120400 +MONDO:0007352 renal coloboma syndrome skos:closeMatch Orphanet:1475 Renal coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120330 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120400 +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch OMIM:120400 coloboma of macula with iia B brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apical dystrophy +MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852752 MONDO:0007353 coloboma of macula-brachydactyly type B syndrome skos:closeMatch Orphanet:1471 Coloboma of macula-brachydactyly type B syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535969 +MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120430 +MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morning glory disc anomaly MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve head pits, bilateral congenital MONDO:0007354 coloboma of optic nerve skos:closeMatch OMIM:120430 coloboma of optic nerve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morning glory disc anomaly -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morning glory disc anomaly -MONDO:0007354 coloboma of optic nerve skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120430 -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120433 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795902 -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cob1 +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch Orphanet:1473 Uveal coloboma-cleft lip and palate-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120433 MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability skos:closeMatch OMIM:120433 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cob1 MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007356 Lynch syndrome 1 skos:closeMatch OMIM:609310 lynch syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lynch syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007356 Lynch syndrome 1 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120435 @@ -3372,262 +3372,262 @@ MONDO:0007360 branchiootic syndrome 2 skos:closeMatch Orphanet:52429 Branchiooti MONDO:0007360 branchiootic syndrome 2 skos:closeMatch OMIM:120502 branchiootic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007361 C1 inhibitor deficiency skos:closeMatch OMIM:120790 complement component 4, partial deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4, partial deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy -MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod retinal dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone-rod dystrophy +MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod retinal dystrophy +MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0007362 cone-rod dystrophy 2 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:120970 -MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractural arachnodactyly, congenital MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch OMIM:121050 contractural arachnodactyly, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractural arachnodactyly, congenital +MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121050 MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220668 MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 MONDO:0007363 congenital contractural arachnodactyly skos:closeMatch Orphanet:115 Congenital contractural arachnodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536211 MONDO:0007364 arthrogryposis, distal, type 2E skos:closeMatch OMIM:121070 arthrogryposis, distal, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures of fingers and jaw -MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign neonatal, type 1, and/or myokymia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch OMIM:121200 seizures, benign familial neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal, type 1, and/or myokymia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121201 +MONDO:0007365 seizures, benign familial neonatal, 1 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121200 MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch OMIM:121201 seizures, benign familial neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007366 seizures, benign familial neonatal, 2 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121201 MONDO:0007367 febrile seizures, familial, 1 skos:closeMatch OMIM:121210 febrile seizures, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852576 -MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypocupremia -MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper deficiency, familial benign +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label copper deficiency, familial benign -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpx deficiency -MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpox deficiency +MONDO:0007368 familial benign copper deficiency skos:closeMatch OMIM:121270 copper deficiency, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym copper deficiency, familial benign +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121270 +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852576 +MONDO:0007368 familial benign copper deficiency skos:closeMatch Orphanet:1551 Familial benign copper deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535468 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019866 MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coproporphyria, hereditary +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpo deficiency +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coproporphyria, hereditary +MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpx deficiency MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:618892 harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harderoporphyria -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046349 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019866 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121300 -MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:79273 Hereditary coproporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162531 +MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:121300 coproporphyria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpox deficiency MONDO:0007369 hereditary coproporphyria skos:closeMatch OMIM:618892 harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label harderoporphyria MONDO:0007372 cornea plana 1, autosomal dominant skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121400 MONDO:0007373 corneal degeneration, ribbonlike, with deafness skos:closeMatch OMIM:121450 corneal degeneration, ribbonlike, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band keratopathy with deafness -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, schnyder MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121800 MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, crystalline, of schnyder -MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch OMIM:121800 schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, schnyder -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, epithelial basement membrane +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 +MONDO:0007374 Schnyder corneal dystrophy skos:closeMatch Orphanet:98967 Schnyder corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535475 +MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial basement membrane +MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, microcystic MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch Orphanet:98956 Epithelial basement membrane dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121820 MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, anterior basement membrane -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, microcystic -MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial basement membrane +MONDO:0007375 epithelial basement membrane dystrophy skos:closeMatch OMIM:121820 corneal dystrophy, epithelial basement membrane semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, epithelial basement membrane MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fleck -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fleck -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, francois-neetens speckled or flecked -MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562113 -MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cfd MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121850 +MONDO:0007376 fleck corneal dystrophy skos:closeMatch Orphanet:98970 Fleck corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562113 +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:121850 corneal dystrophy, fleck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, francois-neetens speckled or flecked MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfd -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121900 -MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1641846 +MONDO:0007376 fleck corneal dystrophy skos:closeMatch OMIM:134350 CFD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cfd MONDO:0007377 granular corneal dystrophy type I skos:closeMatch OMIM:121900 corneal dystrophy, groenouw iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, punctate or nodular -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, hereditary polymorphous posterior -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior polymorphous corneal dystrophy +MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1641846 +MONDO:0007377 granular corneal dystrophy type I skos:closeMatch Orphanet:98962 Granular corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:121900 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior polymorphous corneal dystrophy MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, hereditary polymorphous posterior +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122000 +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym maumenee corneal dystrophy +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:exactMatch Orphanet:98975 Congenital hereditary endothelial dystrophy type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ched1 +MONDO:0007378 posterior polymorphous corneal dystrophy 1 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior polymorphous corneal dystrophy +MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meesmann corneal dystrophy MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann +MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 -MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meesmann corneal dystrophy MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339277 MONDO:0007379 Meesmann corneal dystrophy skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053559 MONDO:0007379 Meesmann corneal dystrophy skos:exactMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122200 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537881 -MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122200 -MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852551 +MONDO:0007380 lattice corneal dystrophy type I skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1690006 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122400 +MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch Orphanet:293381 Epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852551 MONDO:0007381 epithelial recurrent erosion dystrophy skos:closeMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal erosions, recurring hereditary -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation -MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930866 MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch Orphanet:1051 Ramos-Arroyo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122430 -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneodermatoosseous syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial, with skin and skeletal changes -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 -MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome +MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation +MONDO:0007382 Ramos-Arroyo syndrome skos:closeMatch OMIM:122430 corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122440 MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537488 +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneodermatoosseous syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneodermatoosseous syndrome +MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch OMIM:122440 corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, epithelial, with skin and skeletal changes MONDO:0007383 Stern-Lubinsky-Durrie syndrome skos:closeMatch Orphanet:3194 Corneodermatoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdo syndrome +MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigeminal anesthesia, familial -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia, familial MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal hypesthesia, familial -MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch Orphanet:231013 Congenital trigeminal anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122450 -MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 +MONDO:0007384 congenital trigeminal anesthesia skos:closeMatch OMIM:122450 corneal hypesthesia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal hypesthesia, familial MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch OMIM:122455 coronary artery dissection, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery dissection, spontaneous +MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch Orphanet:458718 Idiopathic spontaneous coronary artery dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122455 MONDO:0007385 idiopathic spontaneous coronary artery dissection skos:closeMatch OMIM:122455 coronary artery dissection, spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coronary artery dissection, spontaneous -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym typus degenerativus amstelodamensis +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome +MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym typus degenerativus amstelodamensis MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122470 MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl -MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdl MONDO:0007387 Cornelia de Lange syndrome 1 skos:closeMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachmann-de lange syndrome -MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536448 +MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch Orphanet:2391 Congenitally short costocoracoid ligament semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122580 MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costocoracoid ligament, congenitally short MONDO:0007388 congenitally short costocoracoid ligament skos:closeMatch OMIM:122580 costocoracoid ligament, congenitally short semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label costocoracoid ligament, congenitally short -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis -MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with or without rib anomalies MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation anomalies MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysplasia +MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with or without rib anomalies +MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch Orphanet:1797 Autosomal dominant spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122600 MONDO:0007389 spondylocostal dysostosis 5 skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin sensitivity -MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin resistance MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin, poor metabolism of MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coumarin sensitivity +MONDO:0007390 coumarin resistance skos:closeMatch OMIM:122700 coumarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warfarin resistance MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122780 MONDO:0007392 coxoauricular syndrome skos:closeMatch Orphanet:1508 Coxoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852513 -MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122880 MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536453 +MONDO:0007395 craniofacial-deafness-hand syndrome skos:closeMatch Orphanet:1529 Craniofacial-deafness-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122880 MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432263 MONDO:0007396 dysostosis, Stanescu type skos:closeMatch Orphanet:1798 Dysostosis, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122900 -MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysostosis with diaphyseal hyperplasia MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dysostosis with diaphyseal hyperplasia +MONDO:0007396 dysostosis, Stanescu type skos:closeMatch OMIM:122900 craniofacial dysostosis with diaphyseal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysostosis with diaphyseal hyperplasia MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123050 MONDO:0007398 craniorhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852501 -MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch OMIM:123100 craniosynostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniostenosis MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 +MONDO:0007399 TWIST1-related craniosynostosis skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123100 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch OMIM:123150 jackson-weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, midfacial hypoplasia, and foot abnormalities -MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123150 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795998 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537559 -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123155 -MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, autosomal dominant +MONDO:0007400 Jackson-Weiss syndrome skos:closeMatch Orphanet:1540 Jackson-Weiss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123150 MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, autosomal dominant -MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperckemia, idiopathic +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch OMIM:123155 hydrocephalus, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, autosomal dominant +MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome skos:closeMatch Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123155 MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpk, elevated serum +MONDO:0007402 creatine phosphokinase, elevated serum skos:closeMatch OMIM:123320 creatine phosphokinase, elevated serum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperckemia, idiopathic +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, heidenhain variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, sporadic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creutzfeldt-jakob disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch NCIT:C26802 Creutzfeldt-Jakob Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:282166 Inherited Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 -MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch Orphanet:454700 Acquired Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123400 +MONDO:0007403 inherited Creutzfeldt-Jakob disease skos:closeMatch OMIM:123400 creutzfeldt-jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cat cry syndrome -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 5p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 -MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003410 MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123450 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 5p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011385 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:281 Monosomy 5p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch OMIM:123450 cri-du-chat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007404 Cri-du-chat syndrome skos:closeMatch Orphanet:261893 Partial deletion of the short arm of chromosome 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010314 MONDO:0007405 Crouzon syndrome skos:closeMatch Orphanet:207 Crouzon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123500 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852456 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meltzer syndrome +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027756 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343208 +MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123550 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryoglobulinemia, familial mixed -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meltzer syndrome MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch OMIM:123550 cryoglobulinemia, familial mixed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryoglobulinemia, familial mixed -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123550 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027756 MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340992 -MONDO:0007407 Cryoglobulinemic vasculitis skos:closeMatch Orphanet:91138 Cryoglobulinemic vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852456 MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852454 +MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123560 MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptomicrotia-brachydactyly syndrome MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch OMIM:123560 cryptomicrotia-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptomicrotia-brachydactyly syndrome -MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome skos:closeMatch Orphanet:1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123560 MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 -MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 +MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos, unilateral or bilateral, isolated MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankyloblepharon, simple MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with microphthalmia and peters anomaly -MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos, unilateral or bilateral, isolated MONDO:0007410 isolated cryptophthalmia skos:closeMatch OMIM:123570 cryptophthalmos, unilateral or bilateral, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos, unilateral or bilateral, isolated +MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:98949 Complete cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123570 MONDO:0007410 isolated cryptophthalmia skos:closeMatch Orphanet:91396 Isolated cryptophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852453 MONDO:0007411 cutis laxa, autosomal dominant 1 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123700 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beare-stevenson syndrome MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch OMIM:123790 beare-stevenson cutis gyrata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis gyrata syndrome of beare and stevenson MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis gyrata-acanthosis nigricans-craniosynostosis syndrome -MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123790 MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852406 +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome skos:closeMatch Orphanet:1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123790 MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852396 MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123853 -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyprus facial neuromusculoskeletal syndrome MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyprus facial neuromusculoskeletal syndrome -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852396 -MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123880 +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch OMIM:123853 cyprus facial neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyprus facial neuromusculoskeletal syndrome +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome skos:closeMatch Orphanet:2674 Cyprus facial-neuromusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536229 MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071283 -MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic angiomatosis of bone, diffuse +MONDO:0007414 Gorham-Stout disease skos:closeMatch Orphanet:73 Gorham-Stout disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123880 MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic angiomatosis of bone, diffuse MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, massive +MONDO:0007414 Gorham-Stout disease skos:closeMatch OMIM:123880 cystic angiomatosis of bone, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic angiomatosis of bone, diffuse MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 skos:closeMatch Orphanet:254902 Renal tubulopathy-encephalopathy-liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124000 MONDO:0007416 Balkan nephropathy skos:closeMatch OMIM:124100 danubian endemic familial nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathia epidemica -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022595 -MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 -MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023369 MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124200 +MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007644 +MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dar MONDO:0007417 Darier disease skos:closeMatch OMIM:124200 darier-white disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier disorder, segmental semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007417 Darier disease skos:closeMatch Orphanet:218 Darier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022595 MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian notch MONDO:0007418 Darwinian tubercle of pinna skos:closeMatch OMIM:124300 darwinian tubercle of pinna semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darwinian point of pinna -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124480 MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with onychodystrophy, autosomal dominant MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch OMIM:124480 deafness, congenital, with onychodystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with onychodystrophy, autosomal dominant -MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddod syndrome -MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive stapedial, with ear malformation and facial palsy +MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome skos:closeMatch Orphanet:79499 Autosomal dominant deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675730 MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive stapedial, with ear malformation and facial palsy +MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch OMIM:124490 deafness, conductive stapedial, with ear malformation and facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive stapedial, with ear malformation and facial palsy MONDO:0007421 deafness-ear malformation-facial palsy syndrome skos:closeMatch Orphanet:3232 Deafness-ear malformation-facial palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124490 -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with keratopachydermia and constrictions of fingers and toes -MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch Orphanet:494 Keratoderma hereditarium mutilans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124500 -MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124900 +MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma +MONDO:0007422 keratoderma hereditarium mutilans skos:closeMatch OMIM:124500 vohwinkel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with keratopachydermia and constrictions of fingers and toes MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch OMIM:124900 deafness, autosomal dominant 1, with or without thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 1, with or without thrombocytopenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125230 +MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 skos:closeMatch Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:124900 MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852278 -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy plus syndrome -MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dominant optic atrophy plus syndrome +MONDO:0007428 deafness-craniofacial syndrome skos:closeMatch Orphanet:3241 Deafness-craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125230 MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125250 +MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:closeMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dominant optic atrophy plus syndrome +MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy skos:exactMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy plus syndrome MONDO:0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:closeMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casil -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym failure of tooth eruption, primary +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior openbite malocclusion, familial +MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym failure of tooth eruption, primary +MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125350 MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental noneruption -MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label failure of tooth eruption, primary MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852222 -MONDO:0007434 primary failure of tooth eruption skos:closeMatch Orphanet:412206 Primary failure of tooth eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125350 MONDO:0007434 primary failure of tooth eruption skos:closeMatch OMIM:125350 failure of tooth eruption, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unerupted second primary molar -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy with choreoathetosis -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, chorea, seizures, and dementia -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751781 MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125370 -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentatorubral pallidoluysian atrophy +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch Orphanet:101 Dentatorubral pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751781 +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, chorea, seizures, and dementia +MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy with choreoathetosis MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:314721 Atypical dentin dysplasia due to SMOC2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399379 MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538215 @@ -3635,387 +3635,387 @@ MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:99789 Dentin dysp MONDO:0007436 dentin dysplasia type I skos:closeMatch OMIM:125400 dentin dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rootless teeth MONDO:0007436 dentin dysplasia type I skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125400 MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulpal dysplasia -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulp stones +MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous dysplasia of dentin -MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronal dentin dysplasia +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulp stones MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dtdp2 -MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:99791 Dentin dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronal dentin dysplasia +MONDO:0007437 dentin dysplasia type II skos:closeMatch OMIM:125420 dentin dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous dysplasia of dentin MONDO:0007437 dentin dysplasia type II skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125420 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 -MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125440 MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentin dysplasia with sclerotic bones MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch OMIM:125440 dentin dysplasia with sclerotic bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentin dysplasia with sclerotic bones +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538213 MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852201 -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007438 dentin dysplasia-sclerotic bones syndrome skos:closeMatch Orphanet:99792 Dentin dysplasia-sclerotic bones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125440 +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, autosomal MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007440 major affective disorder 1 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent dentin +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-ii MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125490 MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-ii -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentinogenesis imperfecta type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125490 -MONDO:0007441 dentinogenesis imperfecta type 2 skos:closeMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opalescent dentin MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch Orphanet:166265 Dentinogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125500 MONDO:0007442 dentinogenesis imperfecta type 3 skos:closeMatch OMIM:125500 dentinogenesis imperfecta, shields iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi-iii -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym depressor anguli oris muscle, hypoplasia of -MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric crying facies MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric crying facies +MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cayler cardiofacial syndrome MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125520 MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cayler cardiofacial syndrome MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris skos:closeMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial paresis, partial, unilateral MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125595 MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 MONDO:0007445 dermatopathia pigmentosa reticularis skos:closeMatch Orphanet:86920 Dermatopathia pigmentosa reticularis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535374 -MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 +MONDO:0007447 autosomal dominant vibratory urticaria skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125630 +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory urticaria MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory angioedema -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermographism, familial +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermodistortive urticaria +MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermographism, familial -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vibratory urticaria +MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermographism, familial MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125635 dermographism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatographism, familial MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493348 Vibratory angioedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory angioedema -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria -MONDO:0007448 familial dermatographia skos:closeMatch Orphanet:493342 Vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vibratory urticaria -MONDO:0007448 familial dermatographia skos:closeMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermodistortive urticaria -MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125640 MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852144 -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurogenic diabetes insipidus -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic diabetes insipidus -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 -MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 +MONDO:0007449 dermo-odonto dysplasia skos:closeMatch Orphanet:1660 Dermoodontodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125640 MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, primary central +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, neurohypophyseal MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch OMIM:125700 diabetes insipidus, neurohypophyseal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, neurohypophyseal +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurogenic diabetes insipidus MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary central diabetes insipidus +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic diabetes insipidus +MONDO:0007450 neurohypophyseal diabetes insipidus skos:closeMatch Orphanet:30925 Hereditary central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125700 MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125800 MONDO:0007452 maturity-onset diabetes of the young type 1 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125850 MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch OMIM:125851 maturity-onset diabetes of the young, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mody, glucokinase-related MONDO:0007453 maturity-onset diabetes of the young type 2 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125851 MONDO:0007454 type 1 diabetes mellitus 2 skos:closeMatch OMIM:125852 iia 1 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar drift, hereditary -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126050 -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digitotalar dysmorphism +MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, partial -MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinoidism, oculocutaneous, autosomal dominant MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation +MONDO:0007459 dilution, pigmentary skos:closeMatch OMIM:126070 dilution, pigmentary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinoidism, oculocutaneous, autosomal dominant MONDO:0007460 discrimination, Two-point, reduction 1N skos:closeMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory discrimination -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126190 -MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disproportionate short stature with ptosis and valvular heart lesions MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disproportionate short stature with ptosis and valvular heart lesions +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disproportionate short stature with ptosis and valvular heart lesions +MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome skos:closeMatch Orphanet:2868 Short stature-valvular heart disease-characteristic facies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126190 +MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiple sclerosis, susceptibility to MONDO:0007462 multiple sclerosis, susceptibility to skos:exactMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple sclerosis, susceptibility to -MONDO:0007462 multiple sclerosis, susceptibility to skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0007463 distal osteosclerosis skos:closeMatch OMIM:126250 distal osteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, distal MONDO:0007467 DNA, low-repetitive sequences of skos:closeMatch OMIM:126390 dna, low-repetitive sequences of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym repetitive sequence dna MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852022 -MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doughnut lesions of skull, familial MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch Orphanet:85192 Calvarial doughnut lesions-bone fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 +MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doughnut lesions of skull, familial MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126600 -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial drusen -MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, radial, autosomal dominant MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832174 +MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial drusen MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852020 +MONDO:0007471 Doyne honeycomb retinal dystrophy skos:closeMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, radial, autosomal dominant +MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, cuticular MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, early adult-onset, grouped MONDO:0007472 basal laminar drusen skos:closeMatch Orphanet:75376 Familial drusen semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126700 -MONDO:0007472 basal laminar drusen skos:closeMatch OMIM:126700 basal laminar drusen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drusen, cuticular -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013799 -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013261 MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 +MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 +MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013261 MONDO:0007473 Duane retraction syndrome skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duane syndrome MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly MONDO:0007473 Duane retraction syndrome skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome -MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004370 -MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromas +MONDO:0007473 Duane retraction syndrome skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013799 MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromatosis, familial MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dupuytren contracture +MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar fibromas MONDO:0007476 familial Dupuytren contracture skos:closeMatch OMIM:126900 dupuytren contracture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dupuytren contracture type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym le merrer syndrome -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gloomy face syndrome -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism with tall vertebrae -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dwarfism with tall vertebrae +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:126950 dwarfism with tall vertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism with tall vertebrae MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007477 3-M syndrome skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome +MONDO:0007477 3-M syndrome skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym three m syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym yakut short stature syndrome +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gloomy face syndrome +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym le merrer syndrome +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia +MONDO:0007477 3-M syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dolichospondylic dysplasia MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism, cortical thickening of tubular bones, and transient hypocalcemia MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 MONDO:0007480 dwarfism with stiff joints and ocular abnormalities skos:closeMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moore-federman syndrome +MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym madelung deformity MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265309 MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127300 -MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym madelung deformity -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis and nephritis -MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyschondrosteosis and nephritis +MONDO:0007481 Leri-Weill dyschondrosteosis skos:closeMatch Orphanet:240 Léri-Weill dyschondrosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265309 MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127350 MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch Orphanet:1765 Dyschondrosteosis-nephritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851986 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127400 -MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 +MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis and nephritis +MONDO:0007482 dyschondrosteosis-nephritis syndrome skos:closeMatch OMIM:127350 dyschondrosteosis and nephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyschondrosteosis and nephritis MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406775 MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschromatosis symmetrica hereditaria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch OMIM:127400 dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symmetric dyschromatosis of the extremities +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535729 +MONDO:0007483 dyschromatosis symmetrica hereditaria skos:closeMatch Orphanet:41 Dyschromatosis symmetrica hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127400 MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127550 -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dkbi MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyskeratosis, hereditary benign intraepithelial +MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dkbi MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch OMIM:127600 dyskeratosis, hereditary benign intraepithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis, hereditary benign intraepithelial -MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127600 MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265966 -MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007486 hereditary benign intraepithelial dyskeratosis skos:closeMatch Orphanet:352657 Hereditary benign intraepithelial dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127600 MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym word-blindness, congenital MONDO:0007487 dyslexia, susceptibility to, 1 skos:closeMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lewy body variant of alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dementia, lewy body MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, lewy body MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder with gaze palsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse lewy body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127800 +MONDO:0007488 Lewy body dementia skos:closeMatch OMIM:127750 dementia, lewy body semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dementia, lewy body MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537997 MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432282 +MONDO:0007489 dysplasia epiphysealis hemimelica skos:closeMatch Orphanet:1822 Dysplasia epiphysealis hemimelica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127800 +MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127820 +MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis, dominant carpotarsal MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300233 MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia epiphysealis hemimelica with chondromas and osteochondromas -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch Orphanet:2767 Carpotarsal osteochondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127820 MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysplasia epiphysealis hemimelica with chondromas and osteochondromas -MONDO:0007490 carpotarsal osteochondromatosis skos:closeMatch OMIM:127820 dysplasia epiphysealis hemimelica with chondromas and osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis, dominant carpotarsal MONDO:0007491 dystelephalangy skos:closeMatch OMIM:128000 dystelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirner deformity -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888090 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128100 -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset primary dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013423 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt1 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyt1 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128100 MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch OMIM:128100 dystonia 1, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 1, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888090 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013423 +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset primary dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch NCIT:C34564 Idiopathic Torsion Dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic torsion dystonia +MONDO:0007492 early-onset generalized limb-onset dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset torsion dystonia +MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128101 MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860315 +MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt4 type MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851943 -MONDO:0007493 torsion dystonia 4 skos:closeMatch Orphanet:98805 Primary dystonia, DYT4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128101 -MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whispering dysphonia, hereditary -MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 4, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whispering dysphonia, hereditary +MONDO:0007493 torsion dystonia 4 skos:closeMatch OMIM:128101 dystonia 4, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, progressive, with diurnal variation MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal dominant -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism with diurnal fluctuation +MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal dominant -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive -MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa-responsive dystonia, autosomal dominant MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128230 -MONDO:0007495 dystonia 5 skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant dopa-responsive dystonia -MONDO:0007496 dystonia 12 skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, rapid-onset +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism with diurnal fluctuation +MONDO:0007495 dystonia 5 skos:closeMatch OMIM:128230 dystonia, dopa-responsive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa-responsive dystonia, autosomal dominant +MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128235 MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868681 -MONDO:0007496 dystonia 12 skos:closeMatch Orphanet:71517 Rapid-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rapid-onset dystonia-parkinsonism +MONDO:0007496 dystonia 12 skos:closeMatch OMIM:128235 dystonia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, rapid-onset MONDO:0007498 ear exostoses skos:closeMatch OMIM:128300 ear exostoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exostoses of external auditory canal MONDO:0007500 ear malformation skos:closeMatch OMIM:128600 ear malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cup ear MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear pits MONDO:0007501 preauricular fistulae, congenital skos:closeMatch OMIM:128700 preauricular fistulae, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pafc -MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe indentations, posterior MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior helical ear pits +MONDO:0007502 ear pits, posterior helical skos:closeMatch OMIM:128710 ear pits, posterior helical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe indentations, posterior MONDO:0007503 ear without helix skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128800 MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch Orphanet:2405 Thickened earlobes-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128980 -MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label earlobes, thickened, with conductive deafness from incudostapedial abnormalities MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobes, thickened, with conductive deafness from incudostapedial abnormalities +MONDO:0007504 thickened earlobes-conductive deafness syndrome skos:closeMatch OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label earlobes, thickened, with conductive deafness from incudostapedial abnormalities MONDO:0007505 earring holes, natural skos:closeMatch OMIM:129000 earring holes, natural semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym earlobe sinuses +MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basan syndrome +MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch Orphanet:1658 Absence of fingerprints-congenital milia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129200 -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome -MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch OMIM:129200 basan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basan syndrome +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535289 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with cleft lip/palate MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 -MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129400 +MONDO:0007508 Rapp-Hodgkin syndrome skos:closeMatch OMIM:129400 rapp-hodgkin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with cleft lip/palate MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129490 MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant +MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, autosomal dominant MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clouston hidrotic ectodermal dysplasia MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007510 Clouston syndrome skos:closeMatch OMIM:129500 clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hidrotic, autosomal dominant MONDO:0007510 Clouston syndrome skos:closeMatch Orphanet:189 Hidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129500 MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129510 MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type skos:closeMatch Orphanet:1818 Ectodermal dysplasia, trichoodontoonychial type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851858 MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129600 MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate skos:closeMatch OMIM:129810 ectrodactyly and ectodermal dysplasia without cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eec syndrome without cleft lip/palate MONDO:0007517 ectrodactyly-cleft palate syndrome skos:closeMatch OMIM:129830 ectrodactyly-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ecp syndrome -MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795933 MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129850 +MONDO:0007519 Edinburgh malformation syndrome skos:closeMatch Orphanet:1895 Edinburgh malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795933 MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129900 -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds i, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, severe classic type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, gravis type, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly -MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125696 Ehlers-Danlos Syndrome, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type i +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, gravis type, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds i, formerly +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, severe classic type, formerly MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classical ehlers-danlos syndrome -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268337 -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds -MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds +MONDO:0007522 Ehlers-Danlos syndrome, classic type skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermobile ehlers-danlos syndrome +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268337 MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130020 MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign hypermobility syndrome +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermobile eds +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch OMIM:130020 ehlers-danlos syndrome, hypermobility iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type skos:closeMatch Orphanet:285 Hypermobile Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heds MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130050 -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrochalasia ehlers-danlos syndrome -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasia eds -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrochalasia ehlers-danlos syndrome +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasis multiplex congenita +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrochalasia eds MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch OMIM:130060 ehlers-danlos syndrome, arthrochalasia type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dermatan sulfate proteoglycan MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pds, defective biosynthesis of -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xylosylprotein type 4-beta-galactosyltransferase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym proteodermatan sulfate, defective biosynthesis of -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xgpt deficiency +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome with short stature and limb anomalies -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1869122 -MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xylosylprotein type 4-beta-galactosyltransferase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dermatan sulfate proteoglycan MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylodysplastic ehlers-danlos syndrome -MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536201 +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1869122 +MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym xgpt deficiency MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peds MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontal ehlers-danlos syndrome MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontal eds +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220679 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 +MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221271 MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elastoma intrapapillare perforans verruciformis MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miescher elastoma MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch OMIM:130100 elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eps MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536202 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130100 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221271 -MONDO:0007529 elastosis perforans serpiginosa skos:closeMatch Orphanet:79148 Elastosis perforans serpiginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014338 MONDO:0007533 elliptocytosis 2 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130600 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004903 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001506 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emg syndrome -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beckwith-wiedemann syndrome chromosome region -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 -MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004903 MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:116 Beckwith-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050344 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130650 +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beckwith-wiedemann syndrome chromosome region +MONDO:0007534 Beckwith-Wiedemann syndrome skos:closeMatch OMIM:130650 beckwith-wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emg syndrome +MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130710 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010456 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535735 MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emphysema, congenital lobar MONDO:0007536 congenital lobar emphysema skos:closeMatch OMIM:130710 emphysema, congenital lobar semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emphysema, congenital lobar -MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130710 MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265797 +MONDO:0007536 congenital lobar emphysema skos:closeMatch Orphanet:1928 Congenital lobar emphysema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010456 MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130720 MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:2789 Lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851710 +MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:603543 limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms MONDO:0007537 lateral meningocele syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms -MONDO:0007537 lateral meningocele syndrome skos:closeMatch OMIM:130720 lateral meningocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lms -MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch OMIM:130900 amelogenesis imperfecta, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypocalcification type, autosomal dominant -MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 +MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130900 MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130950 MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025267 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 +MONDO:0007539 encephalopathy, recurrent, of childhood skos:closeMatch Orphanet:2672 Neuhauser-Eichner-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536407 MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym men1 somatic mutations MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131100 -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mea type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine adenomatosis, multiple MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028190 -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011989 -MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025267 +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine adenomatosis, multiple +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mea type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch Orphanet:652 Multiple endocrine neoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018761 +MONDO:0007540 multiple endocrine neoplasia type 1 skos:closeMatch OMIM:131100 multiple endocrine neoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym men1 somatic mutations MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym engelmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131300 MONDO:0007542 Camurati-Engelmann disease skos:closeMatch OMIM:131300 camurati-engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal dysplasia type 1, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:613797 PRSS33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos +MONDO:0007542 Camurati-Engelmann disease skos:closeMatch Orphanet:1328 Camurati-Engelmann disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011989 MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:606239 IKZF4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos +MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:613797 PRSS33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos MONDO:0007544 eosinophilia, familial skos:closeMatch OMIM:131400 eosinophilia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eos +MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilopenia MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eosinophilopenia MONDO:0007545 Eosinophilopenia skos:closeMatch OMIM:131430 eosinophilopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil aplasia -MONDO:0007545 Eosinophilopenia skos:exactMatch NCIT:C113712 Eosinophilopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label eosinophilopenia MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch Orphanet:86830 Chronic myeloproliferative disease, unclassifiable semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131440 MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia skos:closeMatch OMIM:131440 myeloproliferative disorder, chronic, with eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophils, malignant proliferation of MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536979 -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131705 -MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, neonatal +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch Orphanet:79411 Self-improving dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851573 MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, neonatal form +MONDO:0007548 transient bullous dermolysis of the newborn skos:closeMatch OMIM:131705 transient bullous dermolysis of the newborn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, neonatal MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch Orphanet:231568 Autosomal dominant generalized dystrophic epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131750 -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal dominant -MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica with subcorneal cleavage MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albopapuloid dominant dystrophic epidermolysis bullosa +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica with subcorneal cleavage MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal dominant +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal dominant MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa skos:closeMatch OMIM:131750 epidermolysis bullosa dystrophica, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal dominant MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa simplex, dowling-meara type MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131760 MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch Orphanet:79400 Localized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131800 MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs, acral form MONDO:0007551 epidermolysis bullosa simplex 1C, localized skos:closeMatch OMIM:131800 epidermolysis bullosa simplex 1c, localized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa of hands and feet -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, pretibial -MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, pretibial +MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch OMIM:131850 epidermolysis bullosa dystrophica, pretibial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, pretibial MONDO:0007552 pretibial dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79410 Localized dystrophic epidermolysis bullosa, pretibial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131850 MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch Orphanet:79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 -MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131950 -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering +MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type skos:closeMatch Orphanet:79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535962 +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131960 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535959 -MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch Orphanet:79397 Epidermolysis bullosa simplex with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with mottled pigmentation +MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation skos:closeMatch OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering +MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132090 +MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851549 MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, benign occipital MONDO:0007558 benign occipital epilepsy skos:closeMatch OMIM:132090 epilepsy, benign occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign occipital -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851549 -MONDO:0007558 benign occipital epilepsy skos:closeMatch Orphanet:25968 Benign occipital epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132090 -MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoconvulsive reaction MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppr +MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoconvulsive reaction MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photosensitivity MONDO:0007559 photoparoxysmal response 1 skos:closeMatch OMIM:132100 photoparoxysmal response 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, photogenic MONDO:0007559 photoparoxysmal response 1 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132100 @@ -4023,525 +4023,525 @@ MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading sem MONDO:0007560 reading seizures skos:closeMatch OMIM:132300 epilepsy, reading semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, reading MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0278193 MONDO:0007560 reading seizures skos:closeMatch Orphanet:166433 Reading seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132300 -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132400 MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, comp-related -MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with myopia and conductive deafness -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132450 +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch OMIM:132400 epiphyseal dysplasia, multiple, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132400 +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838280 +MONDO:0007561 multiple epiphyseal dysplasia type 1 skos:closeMatch Orphanet:93308 Multiple epiphyseal dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with myopia and conductive deafness +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132450 +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type skos:closeMatch OMIM:132450 epiphyseal dysplasia, multiple, with myopia and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with myopia and conductive deafness +MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018296 -MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206711 MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035040 -MONDO:0007564 pilomatrixoma skos:closeMatch NCIT:C27520 Benign Hair Follicle Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label benign hair follicle neoplasm +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206711 +MONDO:0007564 pilomatrixoma skos:closeMatch Orphanet:91414 Pilomatrixoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132600 +MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'turban tumor' syndrome MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromas, dermal eccrine -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ancell-spiegler cylindromas +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindromatosis, familial MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cylindromatosis, familial -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'turban tumor' syndrome MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 -MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cylindromatosis, familial -MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132700 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 MONDO:0007565 familial cylindromatosis skos:closeMatch Orphanet:211 Familial cylindromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536611 +MONDO:0007565 familial cylindromatosis skos:closeMatch OMIM:132700 cylindromatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ancell-spiegler cylindromas +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple self-healing squamous epithelioma, susceptibility to MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple self-healing squamous epithelioma, susceptibility to +MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ess1, formerly MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch Orphanet:65748 Multiple self-healing squamous epithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132800 -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple self-healing squamous epithelioma, susceptibility to MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferguson-smith-type epithelioma -MONDO:0007566 multiple self-healing squamous epithelioma skos:closeMatch OMIM:132800 multiple self-healing squamous epithelioma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ess1, formerly -MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch OMIM:132900 aortic aneurysm, familial thoracic 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm/aortic dissection and patent ductus arteriosus +MONDO:0007568 aortic aneurysm, familial thoracic 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:132900 MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851502 MONDO:0007570 erythema palmare hereditarium skos:closeMatch Orphanet:231031 Erythema palmare hereditarium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133000 +MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythermalgia, primary MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, familial -MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythermalgia, primary MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythromelalgia, primary -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014805 -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 -MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, small fiber -MONDO:0007571 primary erythermalgia skos:closeMatch OMIM:133020 erythermalgia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythermalgia, primary -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133100 -MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary familial polycythemia +MONDO:0007571 primary erythermalgia skos:closeMatch NCIT:C125389 Small Fiber Neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small fiber neuropathy +MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 +MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133020 +MONDO:0007571 primary erythermalgia skos:closeMatch Orphanet:90026 Primary erythromelalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014805 MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, primary familial and congenital MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch OMIM:133100 erythrocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, autosomal dominant benign +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary familial polycythemia +MONDO:0007572 primary familial polycythemia due to EPO receptor mutation skos:closeMatch Orphanet:90042 Primary familial polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133100 MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133180 MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous, m6 MONDO:0007573 erythroleukemia, familial, susceptibility to skos:closeMatch OMIM:133180 erythroleukemia, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di guglielmo disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851481 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133190 +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch OMIM:133190 spinocerebellar ataxia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch OMIM:133190 spinocerebellar ataxia 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 -MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535738 -MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cardia adenocarcinoma, susceptibility to -MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133239 -MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, susceptibility to +MONDO:0007574 spinocerebellar ataxia type 34 skos:closeMatch Orphanet:1955 Spinocerebellar ataxia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 34 semapv:RegularExpressionReplacement MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546837 +MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric cardia adenocarcinoma, susceptibility to MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym escc, susceptibility to +MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aerodigestive tract cancer, susceptibility to +MONDO:0007576 esophageal cancer skos:closeMatch Orphanet:99977 Squamous cell carcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133239 MONDO:0007576 esophageal cancer skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal squamous cell carcinoma, susceptibility to MONDO:0007581 exchondrosis of pinna, posterior skos:closeMatch OMIM:133500 exchondrosis of pinna, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear bump MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133690 MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome skos:closeMatch Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851428 -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133700 MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal aclasis -MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch NCIT:C53457 Multiple Osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple osteochondromas +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cartilaginous exostoses +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch OMIM:166000 enchondromatosis, multiple, ollier iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondromatosis +MONDO:0007585 exostoses, multiple, type 1 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133700 +MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:133701 exostoses, multiple, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:608210 EXT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 -MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch OMIM:133701 exostoses, multiple, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ext2 MONDO:0007586 exostoses, multiple, type 2 skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133701 -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930867 MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label external auditory canal, bilateral atresia of, with congenital vertical talus +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133705 +MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external auditory canal, bilateral atresia of, with congenital vertical talus -MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rasmussen syndrome -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly -MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851412 MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133750 -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly +MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome skos:closeMatch OMIM:133750 extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy of prematurity MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851402 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:90050 Retinopathy of prematurity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035344 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133780 MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch NCIT:C34982 Retinopathy of Prematurity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy of prematurity -MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy of prematurity MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exudative vitreoretinopathy, familial, autosomal dominant +MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, autosomal dominant MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0007589 exudative vitreoretinopathy 1 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536382 -MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial hemihypertrophy -MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399354 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia +MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial asymmetry MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia +MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial hemihypertrophy MONDO:0007590 hemifacial hypertrophy skos:closeMatch NCIT:C84702 Facial Asymmetry semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial asymmetry -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133900 -MONDO:0007590 hemifacial hypertrophy skos:closeMatch Orphanet:141145 Hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399354 -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134200 +MONDO:0007590 hemifacial hypertrophy skos:closeMatch OMIM:133900 hemifacial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851399 -MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, familial recurrent peripheral +MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch Orphanet:2809 Familial recurrent peripheral facial palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134200 MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial palsy, familial recurrent peripheral +MONDO:0007592 familial recurrent peripheral facial palsy skos:closeMatch OMIM:134200 facial palsy, familial recurrent peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, familial recurrent peripheral MONDO:0007594 factor 5 excess with spontaneous thrombosis skos:closeMatch OMIM:134400 factor 5 excess with spontaneous thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia with elevated factor type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 and factor viii, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007595 factor VII and Factor VIII, combined deficiency of skos:closeMatch OMIM:134430 factor 7 and factor viii, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007597 factor VIII and Factor IX, combined deficiency of skos:closeMatch OMIM:134510 factor 8 and factor ix, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 and factor ix, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factors viii, type 9 and xi, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors viii, type 9 and xi, combined deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007598 factors VIII, IX and XI, combined deficiency of skos:closeMatch OMIM:134520 factors viii, 9 and xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007599 factor 9 and Factor XI, combined deficiency of skos:closeMatch OMIM:134540 factor 9 and factor xi, combined deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007600 primary Fanconi syndrome skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary fanconi renotubular syndrome MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007600 primary Fanconi syndrome skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fanconi renotubular syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007600 primary Fanconi syndrome skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary fanconi renotubular syndrome -MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134610 MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch OMIM:134610 familial mediterranean fever, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmf, autosomal dominant -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016386 +MONDO:0007601 familial Mediterranean fever, autosomal dominant skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134610 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015773 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134750 MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 -MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005258 +MONDO:0007603 Felty syndrome skos:closeMatch Orphanet:47612 Felty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016386 +MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537916 -MONDO:0007604 femoral-facial syndrome skos:closeMatch Orphanet:1988 Femoral-facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134780 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135100 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis ossificans progressiva -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068715 -MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016037 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009221 +MONDO:0007606 fibrodysplasia ossificans progressiva skos:closeMatch Orphanet:337 Fibrodysplasia ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135100 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome -MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058249 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067736 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346010 +MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135150 MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch OMIM:135150 birt-hogg-dube syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hornstein-knickenberg syndrome MONDO:0007607 Birt-Hogg-Dube syndrome skos:closeMatch Orphanet:122 Birt-Hogg-Dubé syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birt-hogg-dubé syndrome -MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement -MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmoid disorder, hereditary semapv:RegularExpressionReplacement MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, familial infiltrative MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135290 MONDO:0007608 desmoid tumor skos:closeMatch Orphanet:873 Desmoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079218 -MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135300 +MONDO:0007608 desmoid tumor skos:closeMatch OMIM:135290 desmoid disease, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desmoid disorder, hereditary semapv:RegularExpressionReplacement MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch OMIM:135300 fibromatosis, gingival, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized, with or without gingival hyperplasia -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135400 -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007609 fibromatosis, gingival, 1 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135300 MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with hypertrichosis +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis terminalis, generalized, with or without gingival hyperplasia +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized, with or without gingival hyperplasia MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized, with or without gingival hyperplasia MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis terminalis, generalized, with or without gingival hyperplasia -MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24.2-q24.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch Orphanet:2026 Gingival fibromatosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135400 MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome skos:closeMatch OMIM:135400 hypertrichosis, congenital generalized, with or without gingival hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q24.2-q24.3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with progressive deafness -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with progressive deafness -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingival fibromatosis with sensorineural hearing loss -MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851112 -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch Orphanet:2027 Gingival fibromatosis-progressive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135550 +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gingival fibromatosis with sensorineural hearing loss +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with progressive deafness +MONDO:0007612 gingival fibromatosis-progressive deafness syndrome skos:closeMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with progressive deafness +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tukel syndrome MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label tukel syndrome +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements +MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302995 -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym tukel syndrome -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement MONDO:0007614 congenital fibrosis of extraocular muscles skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 1 semapv:RegularExpressionReplacement -MONDO:0007614 congenital fibrosis of extraocular muscles skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibula and ulna, duplication of, with absence of tibia and radius -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:498494 Mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror-image polydactyly -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetramelic mirror-image polydactyly -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurin-sandrow syndrome, segmental MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror-image polydactyly +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror hands and feet with nasal defects +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135750 +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetramelic mirror-image polydactyly +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:498494 Mirror-image polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror-image polydactyly MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535689 -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch Orphanet:2378 Laurin-Sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135750 -MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror hands and feet with nasal defects -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch NCIT:C35321 Coffin-Siris Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome +MONDO:0007615 laurin-Sandrow syndrome skos:closeMatch OMIM:135750 laurin-sandrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurin-sandrow syndrome, segmental MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome +MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch NCIT:C35321 Coffin-Siris Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135900 -MONDO:0007617 Coffin-Siris syndrome 1 skos:closeMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome -MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135950 MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931545 +MONDO:0007618 Eng-Strom syndrome skos:closeMatch Orphanet:1937 Eng-Strom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135950 MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finger locking, recurrent, with intrauterine growth retardation and proportionate short stature MONDO:0007618 Eng-Strom syndrome skos:closeMatch OMIM:135950 finger locking, recurrent, with intrauterine growth retardation and proportionate short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label finger locking, recurrent, with intrauterine growth retardation and proportionate short stature MONDO:0007619 isolated congenital adermatoglyphia skos:closeMatch Orphanet:289465 Isolated congenital adermatoglyphia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136000 -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342895 -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 -MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lcat deficiency -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslipoproteinemic corneal dystrophy -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lecithin:cholesterol acyltransferase deficiency MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcata deficiency -MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-lecithin:cholesterol acyltransferase deficiency +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch OMIM:136120 fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyslipoproteinemic corneal dystrophy MONDO:0007620 fish eye disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136140 +MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fish-eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342895 +MONDO:0007620 fish eye disease skos:closeMatch Orphanet:79292 Fish-eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136120 +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-harbor syndrome +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729582 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537062 +MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136140 MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch Orphanet:2044 Floating-Harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729582 -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-harbor syndrome -MONDO:0007621 Floating-Harbor syndrome skos:closeMatch OMIM:136140 floating-harbor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome MONDO:0007621 Floating-Harbor syndrome skos:closeMatch NCIT:C175241 Floating-Harbor Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label floating-harbor syndrome -MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136300 MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343108 +MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136300 MONDO:0007624 Flynn-Aird syndrome skos:closeMatch Orphanet:2047 Flynn-Aird syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537066 -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym superior oblique oculomotor palsy, familial congenital +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fourth cranial nerve palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlear nerve palsy, familial congenital +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym superior oblique oculomotor palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fourth cranial nerve palsy, familial congenital MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strabismus from superior oblique palsy -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136480 MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850996 -MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch OMIM:136480 fourth cranial nerve palsy, familial congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fourth cranial nerve palsy, familial congenital -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 -MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch OMIM:136500 focal facial dermal dysplasia 1, brauer iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary symmetrical aplastic nevi of temples +MONDO:0007626 familial congenital palsy of trochlear nerve skos:closeMatch Orphanet:91498 Familial congenital palsy of trochlear nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136480 MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 +MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch OMIM:136500 focal facial dermal dysplasia 1, brauer iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary symmetrical aplastic nevi of temples +MONDO:0007627 focal facial dermal dysplasia type I skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136500 MONDO:0007628 foveal hypoplasia 1 skos:closeMatch OMIM:136520 foveal hypoplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 1 with or without anterior segment anomalies and/or cataract semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007628 foveal hypoplasia 1 skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136520 -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537835 -MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal dystrophy, progressive, formerly +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136550 +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch Orphanet:75327 North Carolina macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730294 MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal pigment epithelial dystrophy, central -MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site, distamycin a type, rare, fra(16)(p12.1) +MONDO:0007630 North Carolina macular dystrophy skos:closeMatch OMIM:136550 macular dystrophy, retinal, 1, north carolina iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal dystrophy, progressive, formerly MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site type 16p12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile site, distamycin a type, rare, fra(16)(p12.1) MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb skos:closeMatch OMIM:136570 chromosome 16p12.1 deletion syndrome, 520-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p12.1 deletion syndrome, type 520-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 -MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136680 MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950122 +MONDO:0007635 Frasier syndrome skos:closeMatch Orphanet:347 Frasier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052159 MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median facial cleft syndrome MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal malformation +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median facial cleft syndrome +MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007636 frontorhiny skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia +MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 -MONDO:0007636 frontorhiny skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia MONDO:0007636 frontorhiny skos:closeMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia -MONDO:0007636 frontorhiny skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136800 MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 skos:closeMatch OMIM:136800 corneal dystrophy, fuchs endothelial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, early-onset MONDO:0007638 fucosidase regulator skos:closeMatch OMIM:136830 fucosidase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-l-fucosidase regulator MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 MONDO:0007639 fundus albipunctatus skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136880 -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, hemorrhagic -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus dystrophy, pseudoinflammatory, of sorsby -MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136900 MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sorsby pseudoinflammatory fundus dystrophy -MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder, agenesis of +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136900 +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus dystrophy, pseudoinflammatory, of sorsby +MONDO:0007640 Sorsby fundus dystrophy skos:closeMatch OMIM:136900 sorsby fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, hemorrhagic MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder, agenesis of -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007642 isolated agenesis of gallbladder skos:closeMatch OMIM:137040 gallbladder, agenesis of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder, agenesis of MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-a-globulin, selective deficiency of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of +MONDO:0007644 IgAD1 skos:closeMatch OMIM:137100 immunoglobulin a deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007644 IgAD1 skos:closeMatch NCIT:C123434 Immunoglobulin A Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromyotonia and axonal neuropathy, autosomal recessive -MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia, myotonia, and muscle wasting MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuromyotonia and axonal neuropathy, autosomal recessive +MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch OMIM:137200 neuromyotonia and axonal neuropathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia, myotonia, and muscle wasting MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive axonal neuropathy with neuromyotonia MONDO:0007646 Gamstorp-Wohlfart syndrome skos:closeMatch Orphanet:324442 Autosomal recessive axonal neuropathy with neuromyotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137200 MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708349 -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137245 +MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 -MONDO:0007650 MALT lymphoma skos:closeMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric lymphoma, primary MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060707 -MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:300912 Marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242647 -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137270 +MONDO:0007650 MALT lymphoma skos:closeMatch Orphanet:52417 MALT lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137245 +MONDO:0007650 MALT lymphoma skos:closeMatch OMIM:137245 lymphoma, mucosa-associated lymphoid iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric lymphoma, primary +MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850899 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 +MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137270 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535651 -MONDO:0007651 gastrocutaneous syndrome skos:closeMatch Orphanet:2069 Gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850899 MONDO:0007651 gastrocutaneous syndrome skos:closeMatch OMIM:137270 gastrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017868 -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastritis, familial giant hypertrophic MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017155 +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017807 MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastritis, familial giant hypertrophic -MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menetrier disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137280 +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastritis, familial giant hypertrophic +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch OMIM:137280 gastritis, familial giant hypertrophic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menetrier disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007652 gastric mucosal hypertrophy skos:closeMatch Orphanet:2494 Ménétrier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017868 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300229 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:85197 Genochondromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007653 genochondromatosis skos:closeMatch Orphanet:93398 Genochondromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137360 MONDO:0007654 genu valgum, st. Helena familial skos:closeMatch OMIM:137370 genu valgum, st. helena familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genu valgum, hereditary pubertal -MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossitis, benign migratory +MONDO:0007655 fissured tongue skos:closeMatch OMIM:137400 geographic and fissured tongue semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geographic and fissured tongue MONDO:0007655 fissured tongue skos:closeMatch NCIT:C119047 Erythema Migrans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema migrans -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, cerebral, with spongiform encephalopathy -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017495 -MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137440 +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017495 +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, cerebral, with spongiform encephalopathy +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerstmann-straussler disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch OMIM:137440 gerstmann-straussler disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, prnp-related -MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantiform cementoma, familial +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome skos:closeMatch Orphanet:356 Gerstmann-Straussler-Scheinker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072075 MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantiform cementoma, familial -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 -MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cemental dysplasia, periapical +MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cementomas, familial multiple -MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette disorder +MONDO:0007660 familial ossifying fibroma skos:closeMatch OMIM:137575 gigantiform cementoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantiform cementoma, familial +MONDO:0007660 familial ossifying fibroma skos:closeMatch Orphanet:435329 Familial ossifying fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137575 MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic motor tics +MONDO:0007661 Tourette syndrome skos:closeMatch OMIM:137580 gilles lange 50a tourette syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette disorder MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch OMIM:137600 anterior segment dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with early-onset glaucoma, autosomal dominant MONDO:0007662 anterior segment dysgenesis 4 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137600 MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch OMIM:137750 glaucoma 1, open angle, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, open angle, type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007664 glaucoma 1, open angle, A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137750 -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma and sleep apnea MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma and sleep apnea -MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137763 +MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch OMIM:137763 glaucoma and sleep apnea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma and sleep apnea MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842025 +MONDO:0007666 glaucoma-sleep apnea syndrome skos:closeMatch Orphanet:2085 Glaucoma-sleep apnea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137763 MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subependymoma MONDO:0007667 subependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subependymoma MONDO:0007667 subependymoma skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulocystic kidney, familial hypoplastic +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fjhn, atypical -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, atypical MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431693 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, atypical +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137920 -MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maturity-onset diabetes of the young type 5 +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fjhn, atypical +MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch OMIM:137920 renal cysts and diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulocystic kidney, familial hypoplastic MONDO:0007669 renal cysts and diabetes syndrome skos:closeMatch Orphanet:93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535520 MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fibronectin glomerulopathy -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits -MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibronectin glomerulopathy -MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomerulopathy with fibronectin deposits type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomuvenous malformations -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomuvenous malformations -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomas, multiple -MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, multiple -MONDO:0007672 glomuvenous malformation skos:closeMatch NCIT:C27496 Glomangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomangiomatosis -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 +MONDO:0007671 fibronectin glomerulopathy skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0007671 fibronectin glomerulopathy skos:exactMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibronectin glomerulopathy MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomatosis +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018381 MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841984 -MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138000 +MONDO:0007672 glomuvenous malformation skos:closeMatch NCIT:C27496 Glomangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomangiomatosis +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomatosis +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomangiomas, multiple +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, multiple +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomuvenous malformations +MONDO:0007672 glomuvenous malformation skos:closeMatch OMIM:138000 glomuvenous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomuvenous malformations +MONDO:0007672 glomuvenous malformation skos:closeMatch Orphanet:83454 Glomuvenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536827 MONDO:0007676 glutathione transferase activity toward trans-stilbene oxide skos:closeMatch OMIM:138340 glutathione transferase activity toward trans-stilbene oxide semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trans-stilbene oxide glutathione transferase activity -MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate nephrolithiasis MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate urolithiasis -MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841854 +MONDO:0007677 hyperglycinuria skos:closeMatch OMIM:138500 hyperglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinuria with or without oxalate nephrolithiasis MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138770 +MONDO:0007679 GMS syndrome skos:closeMatch Orphanet:2090 GMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841854 MONDO:0007679 GMS syndrome skos:closeMatch OMIM:138770 gms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goniodysgenesis--mental retardation--short stature syndrome -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinodular goiter/cystic renal disorder/digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinodular goiter/cystic renal disorder/digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mng/crd/da MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841853 MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch Orphanet:2091 Multinodular goiter-cystic kidney-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138790 -MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mng/crd/da +MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome skos:closeMatch OMIM:138790 goiter, multinodular, cystic renal disease, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goiter, multinodular, cystic renal disorder, and digital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors skos:closeMatch Orphanet:276399 Familial multinodular goiter semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138800 MONDO:0007682 granddad syndrome skos:closeMatch OMIM:138920 granddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138930 -MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537293 -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717750 -MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272302 +MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841835 +MONDO:0007683 Grant syndrome skos:closeMatch Orphanet:2097 Grant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:138930 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139090 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055652 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717750 +MONDO:0007686 gray platelet syndrome skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272302 MONDO:0007686 gray platelet syndrome skos:closeMatch OMIM:139090 gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007687 graying of hair, precocious skos:closeMatch OMIM:139100 graying of hair, precocious semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white hair, premature MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139210 MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796081 MONDO:0007688 Myhre syndrome skos:closeMatch Orphanet:2588 Myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome -MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myhre syndrome -MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngotracheal stenosis, arthropathy, prognathism, and short stature -MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth-mental deficiency syndrome of myhre MONDO:0007688 Myhre syndrome skos:closeMatch NCIT:C123815 Myhre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myhre syndrome -MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth-mental deficiency syndrome of myhre +MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngotracheal stenosis, arthropathy, prognathism, and short stature +MONDO:0007688 Myhre syndrome skos:closeMatch OMIM:139210 myhre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myhre syndrome MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007689 guanylate kinase 3 skos:closeMatch OMIM:139290 guanylate kinase 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate kinase type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970109 MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139300 MONDO:0007690 aromatase excess syndrome skos:closeMatch OMIM:139300 aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aromatase activity, increased -MONDO:0007690 aromatase excess syndrome skos:closeMatch Orphanet:178345 Aromatase excess syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970109 -MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:98916 Acute inflammatory demyelinating polyradiculoneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139393 -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841696 -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 -MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis cubiti +MONDO:0007691 Guillain-Barre syndrome, familial skos:closeMatch Orphanet:2932 Chronic inflammatory demyelinating polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057645 MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068636 +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis cubiti +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139600 +MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch Orphanet:2220 Hypertrichosis cubiti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841696 MONDO:0007693 hypertrichosis cubiti-short stature syndrome skos:closeMatch OMIM:139600 hairy elbows semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis cubiti MONDO:0007695 hairy palms and soles skos:closeMatch OMIM:139650 hairy palms and soles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym circumscribed hairy dysembryoplasia of palms -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand and foot deformity with flat facies MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hand and foot deformity with flat facies -MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 +MONDO:0007696 Emery-Nelson syndrome skos:closeMatch OMIM:139750 hand and foot deformity with flat facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand and foot deformity with flat facies MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841693 +MONDO:0007696 Emery-Nelson syndrome skos:closeMatch Orphanet:1927 Emery-Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:139750 +MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140000 MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072361 MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841679 -MONDO:0007698 hand-foot-genital syndrome skos:closeMatch Orphanet:2438 Hand-foot-genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140000 -MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid autoantibodies MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ht +MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid autoantibodies MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto struma MONDO:0007699 Hashimoto thyroiditis skos:closeMatch OMIM:140300 hashimoto thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, autoimmune -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931042 MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 -MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140350 MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535845 +MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931042 +MONDO:0007700 hawkinsinuria skos:closeMatch Orphanet:2118 Hawkinsinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140350 MONDO:0007701 progressive familial heart block type II skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140400 MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140450 MONDO:0007702 heart-hand syndrome type 3 skos:closeMatch Orphanet:1342 Heart-hand syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841657 -MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heberden nodes MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dipoa MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hand osteoarthritis +MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heberden nodes MONDO:0007704 osteoarthritis susceptibility 2 skos:closeMatch OMIM:140600 osteoarthritis susceptibility 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of distal interphalangeal joints MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heinz body anemias MONDO:0007705 Heinz body anemia skos:closeMatch OMIM:140700 heinz body anemias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heinz body anemias -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym raphe, supraumbilical midline, with cavernous facial hemangiomas -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140850 MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomas, cavernous, of face and supraumbilical midline raphe -MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiomas, cavernous, of face and supraumbilical midline raphe MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sternal nonunion with supraumbilical raphe +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiomas, cavernous, of face and supraumbilical midline raphe +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:140850 +MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome skos:closeMatch OMIM:140850 hemangiomas, cavernous, of face and supraumbilical midline raphe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym raphe, supraumbilical midline, with cavernous facial hemangiomas MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058423 MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141000 MONDO:0007708 Kasabach-Merritt syndrome skos:closeMatch Orphanet:2330 Kasabach-Merritt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221025 -MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin membrane nephropathy MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin-basement-membrane nephropathy -MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial atrophy, progressive -MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141300 +MONDO:0007709 hematuria, benign familial skos:closeMatch OMIM:141200 hematuria, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thin membrane nephropathy MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial atrophy, progressive +MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141300 +MONDO:0007710 facial hemiatrophy skos:closeMatch OMIM:141300 hemifacial atrophy, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial atrophy, progressive MONDO:0007710 facial hemiatrophy skos:exactMatch NCIT:C84703 Facial Hemiatrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label facial hemiatrophy MONDO:0007710 facial hemiatrophy skos:closeMatch Orphanet:1214 Progressive hemifacial atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015458 -MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841640 -MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia with strabismus +MONDO:0007711 Bencze syndrome skos:closeMatch Orphanet:1241 Bencze syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141350 MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial hyperplasia with strabismus -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oavs with radial defect -MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial microsomia with radial defects +MONDO:0007711 Bencze syndrome skos:closeMatch OMIM:141350 hemifacial hyperplasia with strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial hyperplasia with strabismus MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia with radial defects +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial microsomia with radial defects MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum with radial defect +MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oavs with radial defect MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch OMIM:141400 hemifacial microsomia with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldenhar syndrome with ipsilateral radial defect MONDO:0007712 oculoauriculovertebral spectrum with radial defects skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141400 MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm, familial MONDO:0007713 clonic hemifacial spasm skos:closeMatch Orphanet:221083 Hemifacial spasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemifacial spasm MONDO:0007713 clonic hemifacial spasm skos:closeMatch OMIM:141405 hemifacial spasm, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial spasm, familial -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hemoglobin h -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, chromosome type 16-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795917 -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, deletion-type MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atr, deletion-type MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141750 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hemoglobin h MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475813 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, chromosome type 16-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h-related mental retardation +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, deletion-type +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795917 +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 skos:closeMatch OMIM:141750 alpha-thalassemia/impaired intellectual development syndrome, deletion iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007718 hepatic adenomas, familial skos:closeMatch OMIM:142330 hepatic adenomas, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver cell adenomas, familial -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, complete agenesis of -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142340 MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, congenital diaphragmatic -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemidiaphragm, agenesis of -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, congenital -MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic hernia, congenital +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142340 +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, complete agenesis of MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragm, unilateral agenesis of MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defect, congenital -MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hernia, hiatus +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic hernia, congenital +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, congenital +MONDO:0007719 diaphragmatic hernia 1 skos:closeMatch OMIM:142340 diaphragmatic hernia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemidiaphragm, agenesis of MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia, hiatus -MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007721 hiatus hernia skos:closeMatch OMIM:142400 hernia, hiatus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hernia, hiatus MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142623 -MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirsutism, skeletal dysplasia, and mental retardation +MONDO:0007723 Hirschsprung disease, susceptibility to, 1 skos:closeMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirsutism, skeletal dysplasia, and mental retardation -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 -MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, progressive mucinous +MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:142625 hirsutism, skeletal dysplasia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirsutism, skeletal dysplasia, and mental retardation MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, progressive mucinous -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142669 +MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch OMIM:142630 histiocytosis, progressive mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, progressive mucinous +MONDO:0007725 hereditary progressive mucinous histiocytosis skos:closeMatch Orphanet:158025 Hereditary progressive mucinous histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142630 +MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy, premature degenerative, of hip MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beukes hip dysplasia MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beukes hip dysplasia -MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch OMIM:142669 beukes hip dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy, premature degenerative, of hip +MONDO:0007726 hip dysplasia, Beukes type skos:closeMatch Orphanet:2114 Hip dysplasia, Beukes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142669 +MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodic fever, familial, autosomal dominant MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hibernian fever, familial MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnf receptor-associated periodic syndrome MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodic fever, familial, autosomal dominant -MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodic fever, familial, autosomal dominant MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch OMIM:142680 periodic fever, familial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumor necrosis factor receptor-associated periodic syndrome MONDO:0007727 autosomal dominant familial periodic fever skos:closeMatch Orphanet:32960 Tumor necrosis factor receptor 1 associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142680 -MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hidradenitis suppurativa, familial MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial +MONDO:0007728 acne inversa, familial, 1 skos:closeMatch OMIM:142690 acne inversa, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hidradenitis suppurativa, familial MONDO:0007729 developmental dysplasia of the hip 1 skos:closeMatch OMIM:142700 developmental dysplasia of the hip 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip dysplasia, developmental +MONDO:0007732 Holt-Oram syndrome skos:closeMatch NCIT:C125592 Holt-Oram Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hos1 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142900 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050469 +MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holt-oram syndrome -MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome -MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hos1 MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:228184 Heart-hand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265264 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome -MONDO:0007732 Holt-Oram syndrome skos:closeMatch Orphanet:392 Holt-Oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535326 -MONDO:0007732 Holt-Oram syndrome skos:closeMatch NCIT:C125592 Holt-Oram Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome +MONDO:0007732 Holt-Oram syndrome skos:closeMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holt-oram syndrome MONDO:0007733 holoprosencephaly 3 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142945 MONDO:0007733 holoprosencephaly 3 skos:closeMatch OMIM:142945 holoprosencephaly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlp3 MONDO:0007734 holoprosencephaly 4 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142946 @@ -4550,525 +4550,528 @@ MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenit MONDO:0007735 congenital Horner syndrome skos:closeMatch OMIM:143000 horner syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label horner syndrome, congenital MONDO:0007735 congenital Horner syndrome skos:closeMatch Orphanet:91413 Congenital Horner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143000 MONDO:0007736 HPA 1 Recognition polymorphism, beta-globin-related skos:closeMatch OMIM:143020 hpa 1 recognition polymorphism, beta-globin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym restriction fragment length polymorphism, sickle cell anemia-related -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humero-radial synostosis -MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label humeroradial synostosis -MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143050 MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label humeroradial synostosis +MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143050 MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym humeroradial synostosis MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym humeroradial synostosis +MONDO:0007737 humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humero-radial synostosis +MONDO:0007737 humeroradial synostosis skos:exactMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label humeroradial synostosis +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143095 MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch OMIM:143095 spondyloepiphyseal dysplasia with congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with congenital joint dislocations -MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations skos:closeMatch Orphanet:263463 CHST3-related skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143095 -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070668 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 -MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 +MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070668 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020179 +MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143100 MONDO:0007739 Huntington disease skos:closeMatch Orphanet:399 Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006816 -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinal degeneration MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagner vitreoretinopathy -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinopathy MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erosive vitreoretinopathy MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaloideoretinal degeneration of wagner -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinal degeneration -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840452 MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536075 +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0007740 Wagner disease skos:closeMatch OMIM:143200 wagner vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagner vitreoretinopathy +MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840452 MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143200 -MONDO:0007740 Wagner disease skos:closeMatch Orphanet:898 Wagner disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063383 -MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 5-hydroxytryptamine oxygenase regulator MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-hydroxytryptamine oxygenase regulator -MONDO:0007743 attention deficit-hyperactivity disorder skos:closeMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperactivity of childhood -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdlcq10 -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cetp deficiency +MONDO:0007742 5-hydroxytryptamine oxygenase regulator skos:closeMatch OMIM:143460 5-hydroxytryptamine oxygenase regulator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 5-hydroxytryptamine oxygenase regulator +MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym attention deficit-hyperactivity disorder +MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label attention deficit-hyperactivity disorder +MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym attention deficit-hyperactivity disorder +MONDO:0007743 attention deficit-hyperactivity disorder skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label attention deficit-hyperactivity disorder +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester transfer protein deficiency MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein cholesterol level quantitative trait locus type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdlcq10 MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester transfer protein deficiency +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperalphalipoproteinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch OMIM:143470 hyperalphalipoproteinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cetp deficiency MONDO:0007744 cholesterol-ester transfer protein deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143470 MONDO:0007745 Gilbert syndrome skos:closeMatch OMIM:143500 gilbert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbradykininism MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic hypotensive disorder +MONDO:0007746 orthostatic hypotensive disorder, Streeten type skos:closeMatch OMIM:143850 orthostatic hypotensive disorder, streeten iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbradykininism MONDO:0007747 isolated hyperchlorhidrosis skos:closeMatch Orphanet:542657 Isolated hyperchlorhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143860 -MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, familial idiopathic MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143870 -MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 +MONDO:0007748 hypercalciuria, absorptive, 2 skos:closeMatch OMIM:143870 hypercalciuria, absorptive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, familial idiopathic MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch OMIM:143890 hypercholesterolemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-low-density-lipoproteinemia +MONDO:0007750 hypercholesterolemia, familial, 1 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143890 +MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch NCIT:C176014 Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial defective -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, familial, due to ligand-defective apolipoprotein b MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein b-100, familial ligand-defective +MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch OMIM:144010 hypercholesterolemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, familial, due to ligand-defective apolipoprotein b MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144010 -MONDO:0007751 hypercholesterolemia, autosomal dominant, type B skos:exactMatch NCIT:C176014 Hypercholesterolemia, Familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypercholesterolemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, gustatory MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperhidrosis, gustatory MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculotemporal nerve syndrome +MONDO:0007753 Frey syndrome skos:closeMatch OMIM:144100 hyperhidrosis, gustatory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, gustatory MONDO:0007754 hyperhidrosis palmaris ET plantaris skos:closeMatch OMIM:144110 hyperhidrosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhidrosis, primary palmar MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263420 -MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144150 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538377 MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071311 +MONDO:0007756 hyperkeratosis lenticularis perstans skos:closeMatch Orphanet:409 Hyperkeratosis lenticularis perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144150 MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144190 MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome skos:closeMatch Orphanet:1336 Hyperkeratosis-hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840428 -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, epidermolytic +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris familiaris MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis of greither MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, epidermolytic, with knuckle pads -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris familiaris -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratosis, localized epidermolytic -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppke MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, epidermolytic palmoplantar +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratosis, localized epidermolytic +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, epidermolytic +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diffuse erythrodermic palmoplantar keratoderma, vörner type MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolytic palmoplantar keratoderma of vörner MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppke MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis -MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2199 Epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721006 +MONDO:0007758 epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis of greither MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch OMIM:144250 hyperlipidemia, familial combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial combined hyperlipidemia MONDO:0007759 hyperlipidemia, familial combined, LPL related skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144250 -MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch OMIM:144600 hyperlipoproteinemia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate-inducible hyperlipemia MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch NCIT:C34711 Fredrickson Type IV Lipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fredrickson type iv lipidemia +MONDO:0007761 hyperlipoproteinemia type IV skos:closeMatch OMIM:144600 hyperlipoproteinemia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate-inducible hyperlipemia MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, late-onset -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, mixed -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia with hyperprebetalipoproteinemia, familial +MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, mixed MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch OMIM:144650 hyperlipoproteinemia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, combined fat and carbohydrate-induced -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144700 +MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch Orphanet:530849 Familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of kidney +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonpapillary renal carcinoma type 1 locus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, nonpapillary MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell carcinoma MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:319276 Clear cell renal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym clear cell renal cell adenocarcinoma +MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch Orphanet:422526 Hereditary clear cell renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144700 MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch NCIT:C4033 Clear Cell Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clear cell renal cell carcinoma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, nonpapillary MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, nonpapillary -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of kidney -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypernephroma -MONDO:0007763 nonpapillary renal cell carcinoma skos:closeMatch OMIM:144700 renal cell carcinoma, nonpapillary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonpapillary renal carcinoma type 1 locus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 -MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endosteal hyperostosis, autosomal dominant MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal dominant MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperostosis corticalis generalisata, benign form of worth, with torus palatinus +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endosteal hyperostosis, autosomal dominant +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:2790 Endosteal hyperostosis, Worth type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 +MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144750 MONDO:0007764 autosomal dominant osteosclerosis, Worth type skos:closeMatch OMIM:144750 endosteal hyperostosis, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis, autosomal dominant MONDO:0007765 hyperostosis cranialis interna skos:closeMatch Orphanet:443098 Hyperostosis cranialis interna semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144755 MONDO:0007766 Morgagni-Stewart-Morel syndrome skos:closeMatch Orphanet:77296 Morgagni-Stewart-Morel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144800 -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 -MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenoma, familial MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial isolated primary -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145001 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704981 -MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenomatosis, familial cystic +MONDO:0007767 hyperparathyroidism 1 skos:closeMatch OMIM:145000 hyperparathyroidism 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenoma, familial +MONDO:0007767 hyperparathyroidism 1 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145000 MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism-jaw tumor syndrome, hereditary MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch OMIM:145001 hyperparathyroidism 2 with jaw tumors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid adenomatosis, familial cystic +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704981 +MONDO:0007768 hyperparathyroidism 2 with jaw tumors skos:closeMatch Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145001 MONDO:0007769 hyperpigmentation of eyelid skos:closeMatch OMIM:145100 hyperpigmentation of eyelids semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation of eyelids MONDO:0007769 hyperpigmentation of eyelid skos:closeMatch OMIM:145100 hyperpigmentation of eyelids semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation of eyelids -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835039 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835039 +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145250 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840389 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 -MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpotassemia and hypertension, familial MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertensive hyperkalemia, familial +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpotassemia and hypertension, familial +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145260 +MONDO:0007772 pseudohypoaldosteronism type 2A skos:closeMatch Orphanet:88938 Pseudohypoaldosteronism type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840389 MONDO:0007773 hyperproglucagonemia skos:closeMatch OMIM:145270 hyperproglucagonemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucagon, large molecular weight species of MONDO:0007774 hyperreflexia skos:exactMatch NCIT:C43248 Hyperreflexia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperreflexia MONDO:0007774 hyperreflexia skos:exactMatch NCIT:C43248 Hyperreflexia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperreflexia MONDO:0007776 hypersensitivity pneumonitis, familial skos:closeMatch Orphanet:99908 Pigeon-breeder lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145300 -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-frias syndrome -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome, opitz phenotype semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-dysphagia syndrome MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hypertension, essential, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:145500 hypertension, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertension, essential +MONDO:0007781 essential hypertension, genetic skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hypertension, essential, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea skos:closeMatch OMIM:145590 hyperthermia, cutaneous, with headaches and nausea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farmer syndrome MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpyrexia, malignant -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king-denborough syndrome -MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king-denborough syndrome MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym king syndrome MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthermia of anesthesia +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch OMIM:619542 king-denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king-denborough syndrome MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance, selective pituitary +MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch NCIT:C131216 Pituitary Resistance to Thyroid Hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary resistance to thyroid hormone MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145650 MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial, due to inappropriate thyrotropin secretion -MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch NCIT:C131216 Pituitary Resistance to Thyroid Hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary resistance to thyroid hormone MONDO:0007784 selective pituitary resistance to thyroid hormone skos:closeMatch OMIM:145650 thyroid hormone resistance, selective pituitary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone resistance, selective pituitary -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145680 -MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthryroidal hyperthyroxinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, dysprealbuminemic +MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch OMIM:145680 hyperthyroxinemia, dystransthyretinemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthryroidal hyperthyroxinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007785 hyperthyroxinemia, dystransthyretinemic skos:closeMatch Orphanet:597939 Euthyroid dysprealbuminemic hyperthyroxinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145680 +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized +MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized hypertrichosis, ambras type MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:1023 Congenital generalized hypertrichosis, Ambras type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840362 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145701 MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0007787 Ambras type hypertrichosis universalis congenita skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized -MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011195 MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 3 semapv:RegularExpressionReplacement +MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011195 MONDO:0007790 Charcot-Marie-Tooth disease type 3 skos:closeMatch Orphanet:64748 Dejerine-Sottas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145900 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial benign -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalciuric hypercalcemia, acquired -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh1 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypercalcemia type 1 semapv:RegularExpressionReplacement +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068704 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537145 -MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068704 -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145980 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhh1 +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial benign hypercalcemia type 1 semapv:RegularExpressionReplacement +MONDO:0007791 familial hypocalciuric hypercalcemia 1 skos:closeMatch OMIM:145980 hypocalciuric hypercalcemia, familial, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalciuric hypercalcemia, acquired MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 +MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 +MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840347 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537146 MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145981 -MONDO:0007792 familial hypocalciuric hypercalcemia 2 skos:closeMatch Orphanet:101049 Familial hypocalciuric hypercalcemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840347 +MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020967 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146000 MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410529 -MONDO:0007793 hypochondroplasia skos:closeMatch Orphanet:429 Hypochondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020967 -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, isolated hypogonadotropic MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic hypogonadotropic hypogonadism +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch OMIM:146110 hypogonadotropic hypogonadism 7 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, isolated hypogonadotropic MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146110 -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146160 -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian duct anomalies-limb anomalies syndrome -MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelia with mullerian duct anomalies MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-uterus syndrome MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomelia with mullerian duct anomalies -MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch OMIM:146160 hypomelia with mullerian duct anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelia with mullerian duct anomalies +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian duct anomalies-limb anomalies syndrome +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146160 +MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome skos:closeMatch Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840335 MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:189466 Familial isolated hypoparathyroidism due to impaired PTH secretion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 +MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 MONDO:0007796 hypoparathyroidism, familial isolated 1 skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146200 -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis, nerve deafness, and hypoparathyroidism MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840333 +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch Orphanet:2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146255 -MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome skos:closeMatch OMIM:146255 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis, nerve deafness, and hypoparathyroidism -MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146390 MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 +MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:1598 Monosomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146390 MONDO:0007800 chromosome 18p deletion syndrome skos:closeMatch Orphanet:261974 Partial deletion of the short arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432442 MONDO:0007802 hypospadias 3, autosomal skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146450 -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 -MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393571 MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064060 +MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 +MONDO:0007803 multiple system atrophy skos:closeMatch Orphanet:102 Multiple system atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019578 MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotension, orthostatic MONDO:0007803 multiple system atrophy skos:closeMatch OMIM:146500 multiple system atrophy 1, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autonomic failure, pure -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265220 -MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146510 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054975 +MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146510 +MONDO:0007804 Pallister-Hall syndrome skos:closeMatch Orphanet:672 Pallister-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265220 MONDO:0007805 hypotrichosis 2 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146520 MONDO:0007805 hypotrichosis 2 skos:closeMatch OMIM:146520 hypotrichosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htss +MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146590 MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840296 MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536088 -MONDO:0007808 ichthyosis hystrix of Curth-Macklin skos:closeMatch Orphanet:79503 Ichthyosis hystrix of Curth-Macklin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis hystrix, curth-macklin type MONDO:0007809 ichthyosis histrix, Lambert type skos:closeMatch OMIM:146600 ichthyosis hystrix, lambert iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcupine man -MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis simplex -MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch NCIT:C84778 Ichthyosis Vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis vulgaris +MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis simplex MONDO:0007810 autosomal dominant ichthyosis vulgaris skos:closeMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis vulgaris -MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis--cheek--eyebrow syndrome +MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome +MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis--cheek--eyebrow syndrome MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis--cheek--eyebrow syndrome -MONDO:0007811 ichthyosis-cheek-eyebrow syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ice syndrome MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146750 MONDO:0007812 ichthyosis, lamellar, autosomal dominant skos:closeMatch OMIM:146750 ichthyosis, lamellar, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, autosomal dominant -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146800 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432306 -MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:455 Superficial epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053560 MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa +MONDO:0007813 superficial epidermolytic ichthyosis skos:closeMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis exfoliativa MONDO:0007814 immune deficiency, familial variable skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146830 -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige responsiveness, atopic -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige response underlying allergic asthma and rhinitis MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic hypersensitivity -MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopy, susceptibility to +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige responsiveness, atopic MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ige responsiveness, atopic +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopy, susceptibility to +MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige response underlying allergic asthma and rhinitis MONDO:0007817 IgE responsiveness, atopic skos:closeMatch OMIM:147050 ige responsiveness, atopic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ige, level of -MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hies, autosomal dominant MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym job syndrome +MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:exactMatch OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal dominant MONDO:0007818 hyper-IgE recurrent infection syndrome 1 skos:closeMatch Orphanet:2314 Autosomal dominant hyper-IgE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147060 -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused incisors -MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary median maxillary central incisor +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym single central maxillary incisor +MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused incisors MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solitary median maxillary central incisor MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch OMIM:147250 solitary median maxillary central incisor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smmci syndrome MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 MONDO:0007819 solitary median maxillary central incisor syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147250 +MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147251 MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incisors, fused mandibular MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label incisors, fused mandibular MONDO:0007820 fused mandibular incisors skos:closeMatch OMIM:147251 incisors, fused mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'double tooth' -MONDO:0007820 fused mandibular incisors skos:closeMatch Orphanet:2287 Fused mandibular incisors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147251 MONDO:0007826 incisors, shovel-shaped skos:closeMatch OMIM:147400 incisors, shovel-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinodonty -MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066407 MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238190 MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147421 MONDO:0007827 inclusion body myositis skos:closeMatch OMIM:147421 inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibm +MONDO:0007827 inclusion body myositis skos:closeMatch Orphanet:611 Inclusion body myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066407 MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, autosomal dominant -MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome +MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marsili syndrome MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal dominant +MONDO:0007828 indifference to pain, congenital, autosomal dominant skos:closeMatch OMIM:147430 marsili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsili syndrome MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147480 MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 skos:closeMatch OMIM:147480 cholestasis, intrahepatic, of pregnancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, pregnancy-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007834 islet cell adenomatosis skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis -MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis -MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinomatosis and diabetes mellitus MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinomatosis and diabetes mellitus -MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception +MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:147630 insulinomatosis and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinomatosis and diabetes mellitus +MONDO:0007834 islet cell adenomatosis skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis +MONDO:0007834 islet cell adenomatosis skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intussusception -MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327918 +MONDO:0007835 intussusception skos:exactMatch NCIT:C113484 Intussusception semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intussusception MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia +MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327918 MONDO:0007836 IVIC syndrome skos:closeMatch Orphanet:2307 IVIC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147750 MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia MONDO:0007836 IVIC syndrome skos:closeMatch OMIM:147750 ivic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootoradial syndrome +MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796002 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535882 -MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch Orphanet:2316 Johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147770 MONDO:0007837 Johnson neuroectodermal syndrome skos:closeMatch OMIM:147770 johnson neuroectodermal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadh syndrome +MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial type 11q monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147791 MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007838 Jacobsen syndrome skos:closeMatch Orphanet:2308 Jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795841 -MONDO:0007838 Jacobsen syndrome skos:closeMatch OMIM:147791 jacobsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial type 11q monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures with other abnormalities MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147800 +MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220686 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063429 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 -MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220686 MONDO:0007839 Aase-Smith syndrome skos:closeMatch Orphanet:916 Aase-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535332 +MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures with other abnormalities +MONDO:0007839 Aase-Smith syndrome skos:closeMatch OMIM:147800 aase-smith syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aase-smith syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840061 MONDO:0007841 coxopodopatellar syndrome skos:closeMatch Orphanet:1509 Coxopodopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147891 -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268349 -MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147900 +MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds xi, formerly MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym articular hypermobility syndrome MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds11, formerly -MONDO:0007842 joint laxity, familial skos:closeMatch OMIM:147900 joint laxity, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds xi, formerly -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch NCIT:C124837 Kabuki Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147900 +MONDO:0007842 joint laxity, familial skos:closeMatch Orphanet:2295 Familial articular hypermobility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268349 +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147920 MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome -MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niikawa-kuroki syndrome +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007843 Kabuki syndrome 1 skos:closeMatch NCIT:C124837 Kabuki Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome MONDO:0007843 Kabuki syndrome 1 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki make-up syndrome +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch OMIM:147950 hypogonadotropic hypogonadism 2 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:147950 +MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric castleman disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch OMIM:148000 kaposi sarcoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple idiopathic pigmented hemangiosarcoma, susceptibility to -MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:33276 Kaposi sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 MONDO:0007845 Kaposi sarcoma, susceptibility to skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148000 -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148050 MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220687 MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 -MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 +MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148050 MONDO:0007846 KBG syndrome skos:closeMatch OMIM:148050 kbg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies +MONDO:0007846 KBG syndrome skos:closeMatch Orphanet:2332 KBG syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537015 +MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 +MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148190 MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis, hereditary MONDO:0007848 autosomal dominant keratitis skos:closeMatch OMIM:148190 keratitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis, hereditary -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148190 MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537022 -MONDO:0007848 autosomal dominant keratitis skos:closeMatch Orphanet:2334 Autosomal dominant keratitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835698 -MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria +MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoendotheliitis fugax hereditaria MONDO:0007849 keratitis fugax hereditaria skos:closeMatch OMIM:148200 keratoendotheliitis fugax hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoendotheliitis fugax hereditaria -MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal dominant MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal dominant +MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch OMIM:148210 keratitis-ichthyosis-deafness syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal dominant MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148210 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835672 +MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536152 MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch Orphanet:2202 Palmoplantar keratoderma-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148350 -MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, with deafness MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoderma, palmoplantar, with deafness -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 +MONDO:0007852 palmoplantar keratoderma-deafness syndrome skos:closeMatch OMIM:148350 keratoderma, palmoplantar, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, with deafness MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axonal neuropathy with palmoplantar keratoderma MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch OMIM:148360 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with palmoplantar keratoderma and nail dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 -MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:2201 Palmoplantar keratoderma-spastic paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536153 +MONDO:0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome skos:closeMatch Orphanet:538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148360 +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148370 -MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536155 -MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolytic winter erythema +MONDO:0007854 keratolytic winter erythema skos:closeMatch Orphanet:50943 Keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406756 MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratolytic winter erythema MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oudtshoorn skin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer +MONDO:0007854 keratolytic winter erythema skos:closeMatch OMIM:148370 keratolytic winter erythema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolytic winter erythema MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with esophageal cancer -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis with esophageal cancer -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis with esophageal cancer MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toc -MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148500 MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer -MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with clinodactyly +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with esophageal cancer +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis with esophageal cancer +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch Orphanet:2198 Palmoplantar keratoderma-esophageal carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148500 +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome skos:closeMatch OMIM:148500 tylosis with esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis with esophageal cancer MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmaris et plantaris with clinodactyly +MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch OMIM:148520 keratosis palmaris et plantaris with clinodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmaris et plantaris with clinodactyly MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148520 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome skos:closeMatch Orphanet:86919 Keratosis palmaris et plantaris-clinodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835663 -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kppp1 -MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148600 MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratodermia palmoplantaris papulosa, buschke-fischer-brauer type +MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148600 MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris papulosa -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 +MONDO:0007858 palmoplantar keratoderma, punctate type 1A skos:closeMatch OMIM:148600 palmoplantar keratoderma, punctate iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kppp1 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma i, striate, focal, or diffuse MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:369999 Diffuse palmoplantar keratoderma with painful fissures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris striata type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma i, striate, focal, or diffuse +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch OMIM:148700 palmoplantar keratoderma i, striate, focal, or diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma i, striate, focal, or diffuse +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835650 MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch Orphanet:2200 Focal palmoplantar and gingival keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, focal palmoplantar and gingival -MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, focal palmoplantar and gingival MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal palmoplantar and gingival hyperkeratosis syndrome +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, focal palmoplantar and gingival +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch OMIM:148730 keratosis, focal palmoplantar and gingival semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, focal palmoplantar and gingival MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleeblattschadel MONDO:0007861 isolated cloverleaf skull syndrome skos:closeMatch OMIM:148800 kleeblattschaedel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull -MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleine-levin hibernation syndrome -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148840 -MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kleine-levin hibernation syndrome +MONDO:0007862 Waardenburg syndrome type 3 skos:closeMatch Orphanet:896 Waardenburg syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148820 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053712 MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206085 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kleine-levin hibernation syndrome +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148840 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch OMIM:148840 kleine-levin hibernation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kleine-levin hibernation syndrome +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 +MONDO:0007863 Kleine-Levin syndrome skos:closeMatch Orphanet:33543 Kleine-Levin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017593 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022739 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktw syndrome +MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051452 MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007715 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch OMIM:149000 klippel-trenaunay-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ktw syndrome -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:90308 Klippel-Trénaunay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 -MONDO:0007864 angioosteohypertrophic syndrome skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149000 -MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label knuckle pads +MONDO:0007865 knuckle pads skos:exactMatch NCIT:C3928 Knuckle Pads semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knuckle pads MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome MONDO:0007866 Bart-Pumphrey syndrome skos:closeMatch Orphanet:2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149200 MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia, hereditary +MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spoon nails MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koilonychia with leukonychia -MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spoon nails +MONDO:0007867 nonsyndromic congenital nail disorder 2 skos:closeMatch OMIM:149300 nail disorder, nonsyndromic congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome, congenital MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149400 -MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exaggerated startle reaction MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-baby syndrome -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle reaction, exaggerated -MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome, congenital MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sthe +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exaggerated startle reaction +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome, congenital -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimal duct defect -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal puncta, absence of +MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007868 hyperekplexia 1 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149400 +MONDO:0007868 hyperekplexia 1 skos:closeMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym startle reaction, exaggerated MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasolacrimal duct obstruction -MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149700 +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lacrimal duct defect MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal duct defect -MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome -MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ladd syndrome +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch Orphanet:451612 Familial congenital nasolacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149700 +MONDO:0007871 familial congenital nasolacrimal duct obstruction skos:closeMatch OMIM:149700 lacrimal duct defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lacrimal puncta, absence of MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ladd syndrome MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym levy-hollister syndrome MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lacrimoauriculodentodigital syndrome +MONDO:0007872 LADD syndrome skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ladd syndrome MONDO:0007872 LADD syndrome skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265269 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023003 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050638 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023003 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 +MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150230 MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch Orphanet:502 Trichorhinophalangeal syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015826 -MONDO:0007874 trichorhinophalangeal syndrome type II skos:closeMatch OMIM:150230 trichorhinophalangeal syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175778 MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150250 -MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laryngeal abductor paralysis -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0007875 Larsen syndrome skos:closeMatch Orphanet:503 Larsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175778 +MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150260 MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal abductor paralysis -MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal abductor paralysis -MONDO:0007876 laryngeal abductor paralysis skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150260 +MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym laryngeal abductor paralysis MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labd MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial -MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia +MONDO:0007876 laryngeal abductor paralysis skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0007876 laryngeal abductor paralysis skos:exactMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngomalacia -MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 +MONDO:0007878 congenital laryngomalacia skos:closeMatch OMIM:150280 laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150280 MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060786 MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 +MONDO:0007878 congenital laryngomalacia skos:closeMatch Orphanet:2373 Congenital laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055092 MONDO:0007878 congenital laryngomalacia skos:closeMatch NCIT:C98971 Laryngomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngomalacia -MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265756 MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150300 MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larynx, congenital partial atresia of +MONDO:0007879 larynx atresia skos:closeMatch Orphanet:1202 Larynx atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265756 MONDO:0007879 larynx atresia skos:closeMatch OMIM:150300 larynx, congenital partial atresia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larynx, congenital partial atresia of -MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150360 MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023871 +MONDO:0007880 congenital laryngeal web skos:closeMatch Orphanet:2374 Congenital laryngeal web semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150360 +MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal web, familial MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal web, familial +MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic bar MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic web MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glottic web, congenital anterior -MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subglottic bar -MONDO:0007880 congenital laryngeal web skos:closeMatch OMIM:150360 laryngeal web, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal web, familial -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, pegged or missing MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, absence of -MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succedaneous teeth, agenesis of MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150400 +MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral incisors, pegged or missing MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 4, with or without ectodermal dysplasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007881 tooth agenesis, selective, 4 skos:closeMatch OMIM:150400 tooth agenesis, selective, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succedaneous teeth, agenesis of +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10CM:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcp +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007885 Legg-Calve-Perthes disease skos:narrowMatch ICD10WHO:M91.8 Other juvenile osteochondrosis of hip and pelvis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym juvenile osteochondrosis of hip and pelvis semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calvé-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150600 +MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034735 MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch Orphanet:2380 Legg-Calvé-Perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023234 -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcp -MONDO:0007885 Legg-Calve-Perthes disease skos:closeMatch OMIM:150600 legg-calve-perthes disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legg-calve-perthes disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyoma, uterine MONDO:0007886 uterine corpus leiomyoma skos:closeMatch OMIM:150699 leiomyoma, uterine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, uterine MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch OMIM:150700 leiomyoma of vulva and esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophagogastric and vulvar MONDO:0007887 leiomyoma of vulva and esophagus skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150700 +MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, multiple cutaneous MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis and renal cell cancer, hereditary MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple cutaneous and uterine leiomyomata type 1, with or without renal cell carcinoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch OMIM:150800 hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyoma, multiple cutaneous MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:150800 MONDO:0007888 hereditary leiomyomatosis and renal cell cancer skos:closeMatch Orphanet:523 Hereditary leiomyomatosis and renal cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708350 +MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, diffuse MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis profusa MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, generalized MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lentiginosis, inherited patterned MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, inherited patterned -MONDO:0007891 familial generalized lentiginosis skos:closeMatch OMIM:151001 lentiginosis, inherited patterned semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lentiginosis, diffuse MONDO:0007891 familial generalized lentiginosis skos:closeMatch Orphanet:231040 Familial generalized lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151001 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151050 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism skos:closeMatch Orphanet:2658 Lenz-Majewski hyperostotic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537115 @@ -5079,286 +5082,286 @@ MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet: MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moynahan syndrome MONDO:0007893 Noonan syndrome with multiple lentigines skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044542 -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 -MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151200 +MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007894 Leri pleonosteosis skos:closeMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8q22.1 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835450 -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, torrance variant +MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537118 +MONDO:0007894 Leri pleonosteosis skos:closeMatch Orphanet:2900 Leri pleonosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151200 MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, luton variant -MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151210 +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia, torrance variant MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835437 +MONDO:0007895 platyspondylic dysplasia, Torrance type skos:closeMatch Orphanet:85166 Platyspondylic dysplasia, Torrance type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151210 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000871 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic/monocytic leukemia +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318544 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023465 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007948 -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000871 +MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 +MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia MONDO:0007896 acute monocytic leukemia skos:closeMatch OMIM:151380 leukemia, acute monocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute monocytic MONDO:0007896 acute monocytic leukemia skos:closeMatch OMIM:151380 leukemia, acute monocytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute monocytic -MONDO:0007896 acute monocytic leukemia skos:closeMatch NCIT:C7171 Acute Monoblastic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic leukemia -MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 MONDO:0007896 acute monocytic leukemia skos:closeMatch Orphanet:514 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059439 +MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen sclerosus et atrophicus MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch NCIT:C26817 Lichen Sclerosus et Atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen sclerosus et atrophicus -MONDO:0007899 lichen sclerosus et atrophicus skos:closeMatch OMIM:151590 lichen sclerosus et atrophicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen sclerosus et atrophicus -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia totalis and/or partialis -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcelain nails -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia striatus MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia punctata +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porcelain nails MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151600 -MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukonychia striatus +MONDO:0007900 nonsyndromic congenital nail disorder 3 skos:closeMatch OMIM:151600 nail disorder, nonsyndromic congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomotor-levator synkinesis MONDO:0007901 levator-medial rectus synkinesis skos:closeMatch OMIM:151610 oculomotor-levator synkinesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculomotor-levator synkinesis MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma family syndrome of type 51 and fraumeni semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sbla syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch NCIT:C3476 Li-Fraumeni Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sbla syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni-like syndrome -MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch NCIT:C3476 Li-Fraumeni Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-fraumeni syndrome MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151623 +MONDO:0007903 Li-Fraumeni syndrome 1 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-fraumeni syndrome +MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 MONDO:0007904 median nodule of the upper lip skos:closeMatch OMIM:151630 lip, median nodule of upper semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lip, median nodule of upper MONDO:0007904 median nodule of the upper lip skos:closeMatch OMIM:151630 lip, median nodule of upper semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lip, median nodule of upper -MONDO:0007904 median nodule of the upper lip skos:closeMatch Orphanet:2699 Median nodule of the upper lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151630 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch NCIT:C165527 Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 -MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial, of limbs and lower trunk MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, reverse partial +MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial, of limbs and lower trunk +MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:exactMatch NCIT:C165527 Familial Partial Lipodystrophy Type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial partial lipodystrophy type 2 MONDO:0007906 familial partial lipodystrophy, Dunnigan type skos:closeMatch Orphanet:2348 Familial partial lipodystrophy, Dunnigan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151660 -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151800 -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024445 -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023804 -MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple symmetric MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple symmetric -MONDO:0007909 familial multiple lipomatosis skos:closeMatch NCIT:C3192 Lipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoma -MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch OMIM:151800 lipomatosis, multiple symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple symmetric +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023804 +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024445 +MONDO:0007908 multiple symmetric lipomatosis skos:closeMatch Orphanet:2398 Multiple symmetric lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151800 +MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoma +MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, familial multiple MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, multiple MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipomatosis, multiple -MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis, familial multiple -MONDO:0007909 familial multiple lipomatosis skos:closeMatch OMIM:151900 lipomatosis, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoma +MONDO:0007909 familial multiple lipomatosis skos:closeMatch NCIT:C3192 Lipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoma +MONDO:0007909 familial multiple lipomatosis skos:closeMatch Orphanet:199276 Familial multiple lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151900 MONDO:0007911 lipoprotein, variant of beta skos:closeMatch OMIM:152400 lipoprotein, variant of beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-lipoprotein, double -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 -MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lmw-dna MONDO:0007915 systemic lupus erythematosus skos:closeMatch OMIM:152700 systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym excess lymphocyte low molecular weight dna -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, intestinal -MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, intestinal +MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 +MONDO:0007915 systemic lupus erythematosus skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008180 MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267372 MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch Orphanet:90362 Primary intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152800 +MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, intestinal +MONDO:0007916 primary intestinal lymphangiectasia skos:closeMatch OMIM:152800 lymphangiectasia, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, intestinal MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema and cerebral arteriovenous anomaly MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch OMIM:152900 lymphedema and cerebral arteriovenous anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and cerebral arteriovenous anomaly -MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835272 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdmmr syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlcrd syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclmr -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and retinal folds with microcephaly and microphthalmos -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, microcephaly, chorioretinopathy syndrome -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152950 +MONDO:0007917 lymphedema-cerebral arteriovenous anomaly syndrome skos:closeMatch Orphanet:86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152900 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835265 MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-lymphedema-chorioretinopathy syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:152950 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch Orphanet:2526 Microcephaly-lymphedema-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537711 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, microcephaly, chorioretinopathy syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and retinal folds with microcephaly and microphthalmos +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlcrd syndrome +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mclmr +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability skos:closeMatch OMIM:152950 microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdmmr syndrome MONDO:0007919 lymphatic malformation 1 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153100 MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027138 -MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, late-onset MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema praecox MONDO:0007920 lymphatic malformation 5 skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153200 -MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221348 +MONDO:0007920 lymphatic malformation 5 skos:closeMatch OMIM:153200 lymphatic malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, late-onset MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048244 +MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221348 +MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns +MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and yellow nails MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns MONDO:0007921 yellow nail syndrome skos:closeMatch Orphanet:662 Yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153300 -MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema and yellow nails -MONDO:0007921 yellow nail syndrome skos:closeMatch OMIM:153300 yellow nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yns +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153400 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-distichiasis syndrome with renal disorder and diabetes mellitus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537710 -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch OMIM:153400 lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema with distichiasis +MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch Orphanet:33001 Lymphedema-distichiasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265345 MONDO:0007923 macrocephaly, benign familial skos:closeMatch OMIM:153470 macrocephaly, benign familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-hughes syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-zonana syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, multiple lipomas, and hemangiomata -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym riley-smith syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-riley-ruvalcaba syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bannayan-zonana syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265326 +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, multiple lipomas, and hemangiomata MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym riley-smith syndrome -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, pseudopapilledema, and multiple hemangiomata -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome -MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megakaryocytes, unilobular nucleated +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruvalcaba-myhre-smith syndrome MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153550 +MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megakaryocytes, unilobular nucleated MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) skos:closeMatch OMIM:153550 chromosome 5q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocytic anemia, refractory, due to type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007927 congenital macroglossia skos:closeMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153630 MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 -MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia +MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia +MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglossia MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 -MONDO:0007927 congenital macroglossia skos:closeMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglossia +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531735 +MONDO:0007927 congenital macroglossia skos:closeMatch Orphanet:2430 Congenital macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153630 MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153670 -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153700 MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, polymorphic vitelline +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym best vitelliform macular dystrophy, multifocal MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch OMIM:153700 macular dystrophy, vitelliform, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym best vitelliform macular dystrophy, multifocal -MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, senile -MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007931 vitelliform macular dystrophy 2 skos:closeMatch Orphanet:1243 Best vitelliform macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153700 MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, senile MONDO:0007932 age related macular degeneration 2 skos:closeMatch OMIM:153800 macular degeneration, age-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, atypical vitelliform MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch OMIM:153840 macular dystrophy, vitelliform, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, atypical vitelliform MONDO:0007933 vitelliform macular dystrophy 1 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153840 MONDO:0007934 benign concentric annular macular dystrophy skos:closeMatch Orphanet:251287 Benign concentric annular macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153870 -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, dominant cystoid +MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153880 +MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular edema, cystoid MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, dominant cystoid -MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddc +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, dominant cystoid MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystoid macular dystrophy -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153880 -MONDO:0007935 cystoid macular edema skos:closeMatch Orphanet:75381 Cystoid macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystoid macular dystrophy +MONDO:0007935 cystoid macular edema skos:closeMatch OMIM:153880 macular dystrophy, dominant cystoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddc +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium wasting, renal -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154020 +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant primary hypomagnesemia with hypocalciuria MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835171 -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 2, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154020 MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch OMIM:154020 hypomagnesemia 2, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym magnesium loss, isolated renal -MONDO:0007937 renal hypomagnesemia 2 skos:closeMatch Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant primary hypomagnesemia with hypocalciuria -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 9p24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with type 9p24.3 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007938 46,XY sex reversal 4 skos:closeMatch NCIT:C132270 46,XY Sex Reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with type 9p24.3 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs2 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154230 +MONDO:0007938 46,XY sex reversal 4 skos:closeMatch OMIM:154230 46,xy sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 9p24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154275 -MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154276 +MONDO:0007939 malignant hyperthermia, susceptibility to, 2 skos:closeMatch OMIM:154275 malignant hyperthermia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs2 MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch OMIM:154276 malignant hyperthermia, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs3 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nager syndrome +MONDO:0007940 malignant hyperthermia, susceptibility to, 3 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154276 +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, with limb anomalies MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch OMIM:154400 acrofacial dysostosis 1, nager iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nager syndrome MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 -MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538184 MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154400 +MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nager syndrome MONDO:0007943 Nager acrofacial dysostosis skos:closeMatch Orphanet:245 Nager syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265245 MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins-franceschetti syndrome MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch NCIT:C75018 Treacher Collins Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins-franceschetti syndrome +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154500 +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type skos:closeMatch OMIM:154570 mannose 6-phosphate receptor recognition defect, lebanese iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphodiester glycoside deficiency -MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marcus gunn phenomenon +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064583 +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154600 +MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marcus gunn phenomenon +MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marcus gunn phenomenon MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaw-winking MONDO:0007946 jaw-winking syndrome skos:closeMatch OMIM:154600 marcus gunn phenomenon semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maxillopalpebral synkinesis -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266521 -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154600 -MONDO:0007946 jaw-winking syndrome skos:closeMatch Orphanet:91412 Marcus-Gunn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064583 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024796 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008382 +MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024796 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026829 -MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 MONDO:0007947 Marfan syndrome skos:closeMatch Orphanet:284963 Marfan syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154700 -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265235 -MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154780 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 +MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154780 MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536025 +MONDO:0007949 Marshall syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265235 +MONDO:0007950 mastocytosis skos:closeMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026891 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024899 -MONDO:0007950 mastocytosis skos:closeMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0007950 mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008415 MONDO:0007950 mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0007951 masticatory muscles, hypertrophy of skos:closeMatch OMIM:154850 masticatory muscles, hypertrophy of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masseter muscle hypertrophy MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155050 MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maxillonasal dysplasia MONDO:0007953 Binder syndrome skos:closeMatch Orphanet:1248 Maxillonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220692 -MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155145 MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835087 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 -MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmtc +MONDO:0007956 Pai syndrome skos:closeMatch Orphanet:1993 Pai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155145 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536911 MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtc1 -MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155240 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet +MONDO:0007958 familial medullary thyroid carcinoma skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmtc +MONDO:0007958 familial medullary thyroid carcinoma skos:exactMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025149 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027107 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008527 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:616 Medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity -MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C5407 Medulloblastoma with Extensive Nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251867 Classic medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155255 MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C27294 Localized Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized primitive neuroectodermal tumor -MONDO:0007959 medulloblastoma skos:closeMatch NCIT:C5407 Medulloblastoma with Extensive Nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251858 Medulloblastoma with extensive nodularity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label medulloblastoma with extensive nodularity +MONDO:0007959 medulloblastoma skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet MONDO:0007961 megalencephaly, autosomal dominant skos:closeMatch Orphanet:2477 Megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155350 -MONDO:0007962 megalodactyly skos:closeMatch NCIT:C48900 Macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly -MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrodactyly +MONDO:0007962 megalodactyly skos:closeMatch OMIM:155500 macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly +MONDO:0007962 megalodactyly skos:closeMatch NCIT:C48900 Macrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrodactyly +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, malignant MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, familial -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical mole-malignant melanoma syndrome MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic nevus syndrome, hereditary -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, malignant -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma, cutaneous malignant +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155600 +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 skos:closeMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-k mole syndrome MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome -MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155601 MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome +MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155601 MONDO:0007965 melanoma, malignant familial intraocular skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155700 -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835042 -MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155755 MONDO:0007967 melanoma and neural system tumor syndrome skos:exactMatch NCIT:C176905 Melanoma-Astrocytoma Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label melanoma-astrocytoma syndrome +MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155755 +MONDO:0007967 melanoma and neural system tumor syndrome skos:closeMatch Orphanet:252206 Melanoma and neural system tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835042 MONDO:0007968 melanoma tumor antigen Gp90 skos:closeMatch OMIM:155770 melanoma tumor antigen gp90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym class type 1 unique tumor antigen of melanoma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melkersson syndrome MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mros +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch OMIM:155900 melkersson-rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melkersson syndrome MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025235 +MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008556 MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155900 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027166 -MONDO:0007969 Melkersson-Rosenthal syndrome skos:closeMatch Orphanet:2483 Melkersson-Rosenthal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025235 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050284 +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155950 MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008557 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155950 -MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025239 -MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melorheostosis, isolated -MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melorheostosis, isolated +MONDO:0007970 melorheostosis skos:closeMatch Orphanet:2485 Melorheostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050284 MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mel -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835030 -MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155980 +MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melorheostosis, isolated +MONDO:0007970 melorheostosis skos:closeMatch OMIM:155950 melorheostosis, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melorheostosis, isolated MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous cranial ossification, delayed MONDO:0007971 delayed membranous cranial ossification skos:closeMatch OMIM:155980 membranous cranial ossification, delayed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous cranial ossification, delayed -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q23.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835030 +MONDO:0007971 delayed membranous cranial ossification skos:closeMatch Orphanet:3034 Delayed membranous cranial ossification semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155980 MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:228402 2q23.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 -MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch NCIT:C141424 Mental Retardation, Autosomal Dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mdk +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156200 +MONDO:0007974 intellectual disability, autosomal dominant 1 skos:closeMatch OMIM:156200 intellectual developmental disorder, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q23.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia with ankle, carpal, and tarsal synostosis +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:162096 MDK semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mdk MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk -MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch OMIM:156232 mesomelic dysplasia, kantaputra iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia with ankle, carpal, and tarsal synostosis MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156232 MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 +MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535547 MONDO:0007977 mesomelic dysplasia, Kantaputra type skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdk MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410530 MONDO:0007979 metachondromatosis skos:closeMatch Orphanet:2499 Metachondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156250 @@ -5368,1308 +5371,1311 @@ MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156400 MONDO:0007982 metaphyseal chondrodysplasia, Jansen type skos:closeMatch Orphanet:33067 Metaphyseal chondrodysplasia, Jansen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265295 MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156500 -MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal chondrodysplasia, schmid type MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 +MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal chondrodysplasia, schmid type MONDO:0007983 Schmid metaphyseal chondrodysplasia skos:closeMatch Orphanet:174 Metaphyseal chondrodysplasia, Schmid type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537352 -MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156510 MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch OMIM:156510 metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly -MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156530 +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome skos:closeMatch Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156510 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537356 +MONDO:0007986 metatropic dysplasia skos:closeMatch Orphanet:2635 Metatropic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156530 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537207 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156550 MONDO:0007987 Kniest dysplasia skos:closeMatch Orphanet:485 Kniest dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265279 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220693 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, autosomal dominant -MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220693 MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, autosomal dominant -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537323 +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch OMIM:156580 microcephaly, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, autosomal dominant +MONDO:0007988 autosomal dominant primary microcephaly skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156580 +MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 +MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 +MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156600 MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcor MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria, congenital MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcoria, congenital -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156600 -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 -MONDO:0007989 congenital microcoria skos:closeMatch Orphanet:566 Congenital microcoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537550 -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michelin tire baby syndrome -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, multiple benign ring-shaped, of limbs -MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria, congenital +MONDO:0007989 congenital microcoria skos:closeMatch OMIM:156600 microcoria, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miosis, congenital MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473586 MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537575 +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michelin tire baby syndrome +MONDO:0007990 multiple benign circumferential skin creases on limbs skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, multiple benign ring-shaped, of limbs +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-deafness syndrome +MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-deafness syndrome MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156620 MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch Orphanet:2533 Microcephaly-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796062 -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-deafness syndrome -MONDO:0007991 microcephaly-deafness-intellectual disability syndrome skos:closeMatch OMIM:156620 microcephaly-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-deafness syndrome -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834935 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156700 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, glaucoma, and absent frontal sinuses +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, glaucoma, and absent frontal sinuses MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156700 +MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834935 MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch Orphanet:2536 Microcornea-glaucoma-absent frontal sinuses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537552 -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, glaucoma, and absent frontal sinuses -MONDO:0007992 microcornea-glaucoma-absent frontal sinuses syndrome skos:closeMatch OMIM:156700 microcornea, glaucoma, and absent frontal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, glaucoma, and absent frontal sinuses -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834929 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 -MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microgastria-limb reduction defects association MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microgastria-limb reduction defects association +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch OMIM:156810 microgastria-limb reduction defects association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microgastria-limb reduction defects association +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834929 MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156810 +MONDO:0007993 microgastria-limb reduction defect syndrome skos:closeMatch Orphanet:2538 Microgastria-limb reduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537554 MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 MONDO:0007994 micromelic bone dysplasia with cloverleaf skull skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156830 -MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with microphthalmia MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156850 +MONDO:0007995 microphthalmia, isolated, with cataract 1 skos:closeMatch OMIM:156850 microphthalmia, isolated, with cataract 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with microphthalmia MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and corectopia MONDO:0007996 microphthalmia, isolated, with corectopia skos:closeMatch OMIM:156900 microphthalmia, isolated, with corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with myopia and corectopia +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microspherophakia-metaphyseal dysplasia +MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microspherophakia-metaphyseal dysplasia MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157151 MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch Orphanet:2551 Microspherophakia-metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834880 -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microspherophakia-metaphyseal dysplasia -MONDO:0007998 microspherophakia-metaphyseal dysplasia syndrome skos:closeMatch OMIM:157151 microspherophakia-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microspherophakia-metaphyseal dysplasia MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 +MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 MONDO:0007999 holoprosencephaly 2 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157170 -MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr1 MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine +MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr1 MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgau MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch NCIT:C89715 Migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine -MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 +MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bimanual synergia MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements, congenital MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 1 and/or agenesis of the corpus callosum semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008002 mirror movements 1 skos:closeMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bimanual synergia -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement -MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement +MONDO:0008002 mirror movements 1 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157600 MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:closeMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement +MONDO:0008003 autosomal dominant progressive external ophthalmoplegia skos:exactMatch OMIM:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 semapv:RegularExpressionReplacement MONDO:0008004 familial mitral valve prolapse skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones MONDO:0008005 cardiospondylocarpofacial syndrome skos:closeMatch Orphanet:3238 Cardiospondylocarpofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157800 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853240 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 +MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome +MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius sequence +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157900 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020331 -MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch OMIM:157900 moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome -MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moebius syndrome +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157900 +MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853240 MONDO:0008006 Mobius syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030069 -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dental ankylosis -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental ankylosis -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label permanent molars, secondary retention of -MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar type 1 reinclusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155930 MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044019 +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dental ankylosis MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 -MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label permanent molars, secondary retention of MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym permanent molars, secondary retention of +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar type 1 reinclusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008007 tooth ankylosis skos:closeMatch OMIM:157950 permanent molars, secondary retention of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dental ankylosis +MONDO:0008007 tooth ankylosis skos:closeMatch Orphanet:1077 Dental ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020254 +MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834759 MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157980 MONDO:0008008 MOMO syndrome skos:closeMatch OMIM:157980 momo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrosomia, obesity, macrocephaly, and ocular abnormalities -MONDO:0008008 MOMO syndrome skos:closeMatch Orphanet:2563 MOMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834759 +MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158000 MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546966 MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 -MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158000 MONDO:0008009 monilethrix skos:closeMatch Orphanet:573 Monilethrix semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056734 MONDO:0008010 antigen defined by monoclonal antibody Aj9 skos:closeMatch OMIM:158030 antigen defined by monoclonal antibody aj9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk1 MONDO:0008011 antigen defined by monoclonal antibody T87 skos:closeMatch OMIM:158040 antigen defined by monoclonal antibody t87 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym msk2 -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial deletion of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of the short arm of chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial deletion of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008013 chromosome 9p deletion syndrome skos:closeMatch Orphanet:261112 Monosomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158170 +MONDO:0008013 chromosome 9p deletion syndrome skos:exactMatch Orphanet:261929 Partial deletion of the short arm of chromosome 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial monosomy of chromosome type 9p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mixoploidy, familial MONDO:0008014 nondisjunction skos:closeMatch OMIM:158250 nondisjunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaicism, chromosomal -MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label motion sickness +MONDO:0008015 motion sickness skos:exactMatch NCIT:C34824 Motion Sickness semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label motion sickness +MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mouth, inability to open completely, and short finger-flexor tendons MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265226 MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch Orphanet:3377 Trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158300 -MONDO:0008016 trismus-pseudocamptodactyly syndrome skos:closeMatch OMIM:158300 arthrogryposis, distal, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mouth, inability to open completely, and short finger-flexor tendons MONDO:0008017 hereditary mucoepithelial dysplasia skos:closeMatch Orphanet:1839 Hereditary mucoepithelial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158310 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muir-torre syndrome +MONDO:0008018 Muir-Torre syndrome skos:closeMatch NCIT:C84905 Muir-Torre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome +MONDO:0008018 Muir-Torre syndrome skos:closeMatch OMIM:158320 muir-torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063042 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158320 +MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055653 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063042 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321489 -MONDO:0008018 Muir-Torre syndrome skos:closeMatch Orphanet:587 Muir-Torre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome -MONDO:0008018 Muir-Torre syndrome skos:closeMatch NCIT:C84905 Muir-Torre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muir-torre syndrome +MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158330 MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675014 MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia and hyperandrogenism -MONDO:0008019 mullerian aplasia and hyperandrogenism skos:closeMatch Orphanet:247768 Müllerian aplasia and hyperandrogenism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158330 MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:109 Bannayan-Riley-Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteus-like syndrome MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch NCIT:C179930 Proteus-Like Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proteus-like syndrome -MONDO:0008021 Cowden syndrome 1 skos:closeMatch Orphanet:2969 Proteus-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158350 +MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple hamartoma syndrome MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granule cell hypertrophy and megalencephaly -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008021 Cowden syndrome 1 skos:closeMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteus-like syndrome -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch OMIM:158500 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome skos:closeMatch Orphanet:2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158500 +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7a MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmnvp -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158580 MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, with vocal cord paralysis -MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7a MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch OMIM:158580 neuronopathy, distal hereditary motor, iia 7a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harper-young myopathy -MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158580 MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, adult, autosomal dominant, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, spinal, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch OMIM:158590 neuronopathy, distal hereditary motor, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008025 neuronopathy, distal hereditary motor, type 2A skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158590 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome, autosomal dominant MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, childhood, proximal, autosomal dominant -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834690 -MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, proximal, autosomal dominant MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bethlem myopathy MONDO:0008029 Bethlem myopathy skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834674 MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bethlem myopathy type 1 semapv:RegularExpressionReplacement -MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834674 -MONDO:0008029 Bethlem myopathy skos:closeMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement +MONDO:0008029 Bethlem myopathy skos:exactMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bethlem myopathy MONDO:0008029 Bethlem myopathy skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535436 +MONDO:0008029 Bethlem myopathy skos:closeMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy, infantile MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym landouzy-dejerine muscular dystrophy -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles MONDO:0008030 facioscapulohumeral muscular dystrophy 1 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158900 MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioscapulohumeral muscular dystrophy type 2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fshd2, digenic MONDO:0008031 facioscapulohumeral muscular dystrophy 2 skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158901 MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159050 -MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159400 MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch OMIM:159400 myasthenia, limb-girdle, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, limb-girdle -MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327919 +MONDO:0008036 myasthenia, limb-girdle, autoimmune skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159400 MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159550 +MONDO:0008038 ataxia-pancytopenia syndrome skos:closeMatch Orphanet:2585 Ataxia-pancytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327919 +MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159580 +MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044696 MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ham MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030481 -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044696 -MONDO:0008039 tropical spastic paraparesis skos:closeMatch Orphanet:289326 Tropical spastic paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159580 MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraparesis, htlv-1-associated MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelopathy, htlv-1-associated -MONDO:0008039 tropical spastic paraparesis skos:closeMatch NCIT:C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 associated myelopathy/tropical spastic paraparesis MONDO:0008039 tropical spastic paraparesis skos:closeMatch OMIM:159580 myelopathy, htlv-1-associated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelopathy, htlv-1-associated +MONDO:0008039 tropical spastic paraparesis skos:closeMatch NCIT:C179058 HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label htlv-1 associated myelopathy/tropical spastic paraparesis MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative syndrome, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloproliferative syndrome, transient -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834582 -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, transient MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159595 -MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:602496 MPST semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, transient +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834582 MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:602496 MPST semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mst +MONDO:0008040 transient myeloproliferative syndrome skos:closeMatch OMIM:159595 myeloproliferative syndrome, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloproliferative syndrome, transient MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus, cerebellar ataxia, and deafness MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch OMIM:159800 myoclonus, cerebellar ataxia, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, cerebellar ataxia, and deafness MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159800 MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome skos:closeMatch Orphanet:2589 Myoclonus-cerebellar ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834579 MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus-dystonia syndrome -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 11, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus-dystonia syndrome MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159900 +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic dystonia MONDO:0008044 myoclonic dystonia 11 skos:exactMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alcohol-responsive dystonia -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonus-dystonia syndrome -MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, alcohol-responsive +MONDO:0008044 myoclonic dystonia 11 skos:closeMatch OMIM:159900 dystonia 11, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary essential +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary, with progressive distal muscular atrophy MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834569 MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with progressive myoclonic epilepsy -MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus, hereditary, with progressive distal muscular atrophy MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with progressive myoclonic epilepsy MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome skos:closeMatch Orphanet:2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159950 MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160010 MONDO:0008046 autosomal dominant myoglobinuria skos:closeMatch Orphanet:99846 Autosomal dominant myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834567 MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with myokymia -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous muscle fiber activity, hereditary MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia type 1 with or without hypomagnesemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia with periodic ataxia +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous muscle fiber activity, hereditary MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal ataxia with neuromyotonia, hereditary +MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myokymia with periodic ataxia MONDO:0008047 episodic ataxia type 1 skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1719788 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 -MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160120 +MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:37612 Episodic ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1719788 MONDO:0008047 episodic ataxia type 1 skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal dominant MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal dominant -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal dominant +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myopathy, centronuclear, type 1 semapv:RegularExpressionReplacement +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch NCIT:C126689 Centronuclear Myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label centronuclear myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch Orphanet:169189 Autosomal dominant centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834558 +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160500 +MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosin storage myopathy MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, early-onset, autosomal dominant MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch OMIM:160500 myopathy, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, late distal hereditary -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:59135 Laing early-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160500 -MONDO:0008050 MYH7-related skeletal myopathy skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosin storage myopathy -MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubular aggregate myopathy -MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubular aggregate myopathy MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement -MONDO:0008054 juvenile dermatomyositis skos:closeMatch NCIT:C27578 Myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931785 -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 -MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 -MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis +MONDO:0008051 tubular aggregate myopathy skos:exactMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement +MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008051 tubular aggregate myopathy skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0008054 juvenile dermatomyositis skos:closeMatch OMIM:160750 myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, familial idiopathic inflammatory +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008521 +MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931785 +MONDO:0008054 juvenile dermatomyositis skos:closeMatch NCIT:C27578 Myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis MONDO:0008054 juvenile dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 -MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160800 MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia levior -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160800 +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160900 +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch Orphanet:273 Steinert myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinert myotonic dystrophy MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch NCIT:C84679 Dystrophia Myotonica 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 1 semapv:RegularExpressionReplacement -MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008056 myotonic dystrophy type 1 skos:closeMatch OMIM:160900 myotonic dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160980 +MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym name syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamb syndrome -MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney myxoma-endocrine complex MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, spotty pigmentation, and endocrine overactivity -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney syndrome -MONDO:0008057 Carney complex, type 1 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160980 -MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic myopathy with cylindrical spirals +MONDO:0008057 Carney complex, type 1 skos:closeMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney myxoma-endocrine complex MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy with cylindrical spirals -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome +MONDO:0008058 cylindrical spirals myopathy skos:closeMatch OMIM:160990 myotonic myopathy with cylindrical spirals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic myopathy with cylindrical spirals MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli-franceschetti-jadassohn syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343111 -MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfj syndrome +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161000 +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343111 +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch OMIM:161000 naegeli-franceschetti-jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naegeli syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome skos:closeMatch Orphanet:69087 Naegeli-Franceschetti-Jadassohn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label naegeli-franceschetti-jadassohn syndrome +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy totalis, isolated MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic trachyonychia MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406443 -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail growth -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-shaped nails -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive nail dysplasia -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:79153 Idiopathic trachyonychia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic trachyonychia MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychauxis, hyponychia, and onycholysis -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy totalis, isolated -MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail growth MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027341 -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161050 +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch Orphanet:280654 Autosomal recessive nail dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive nail dysplasia +MONDO:0008060 nonsyndromic congenital nail disorder 1 skos:closeMatch OMIM:161050 nail disorder, nonsyndromic congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-shaped nails MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 -MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161200 MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009261 -MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 -MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataplexy +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161200 +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027341 +MONDO:0008061 nail-patella syndrome skos:closeMatch Orphanet:2614 Nail-patella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063431 MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement -MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym narcoleptic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008062 narcolepsy 1 skos:closeMatch NCIT:C84618 Cataplexy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataplexy +MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataplexy +MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label narcolepsy type 1 +MONDO:0008062 narcolepsy 1 skos:closeMatch OMIM:161400 narcolepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym narcoleptic syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008062 narcolepsy 1 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161400 -MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161550 +MONDO:0008062 narcolepsy 1 skos:exactMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label narcolepsy type 1 semapv:RegularExpressionReplacement MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca2 +MONDO:0008067 nasopharyngeal carcinoma, susceptibility to, 2 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161550 MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult skos:closeMatch OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leigh syndrome, adult +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with excess of thin myofilaments +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 3, with intranuclear rods semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with cores -MONDO:0008070 nemaline myopathy 3 skos:closeMatch OMIM:161800 congenital myopathy 2a, typical, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, actin, congenital, with excess of thin myofilaments -MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:98904 Congenital myopathy with excess of thin filaments semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephritis, familial, without deafness or ocular defect +MONDO:0008070 nemaline myopathy 3 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161800 +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, adult-onset +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal failure, progressive, with hypertension +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, progressive, with hypertension MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, familial +MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephritis, familial, without deafness or ocular defect MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch Orphanet:88659 Autosomal dominant progressive nephropathy with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:161900 -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, progressive, with hypertension -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal failure, progressive, with hypertension -MONDO:0008071 autosomal dominant progressive nephropathy with hypertension skos:closeMatch OMIM:161900 renal failure, progressive, with hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal failure, adult-onset MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008072 IgA nephropathy, susceptibility to, 1 skos:closeMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igan -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 -MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label umod-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 -MONDO:0008075 schwannomatosis skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162000 MONDO:0008075 schwannomatosis skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335929 +MONDO:0008075 schwannomatosis skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuralgic amyotrophy MONDO:0008076 amyotrophic neuralgia skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162100 MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch OMIM:162210 neurofibromatosis, familial spinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fsnf MONDO:0008078 neurofibromatosis, familial spinal skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162210 MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npdc syndrome MONDO:0008079 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome skos:closeMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duodenal carcinoid syndrome -MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromas, palmar cutaneous MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162260 -MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, atypical +MONDO:0008080 neurofibromatosis, type III, mixed central and peripheral skos:closeMatch OMIM:162260 neurofibromatosis, iia iii, mixed central and peripheral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nf type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, atypical MONDO:0008081 neurofibromatosis, type IV, of Riccardi skos:closeMatch OMIM:162270 neurofibromatosis, iia iv, of riccardi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis, variant form(s) of +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucosal neuroma syndrome MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromata, mucosal, with endocrine tumors MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch OMIM:162300 multiple endocrine neoplasia, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucosal neuroma syndrome +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018814 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056420 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025269 -MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:247709 Multiple endocrine neoplasia type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 -MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 +MONDO:0008082 multiple endocrine neoplasia type 2B skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162300 MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:228343 CLN4B disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162400 -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162350 MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch OMIM:162400 neuropathy, hereditary sensory and autonomic, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162400 +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary, with liability to pressure palsies MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with liability to pressure palsies MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, familial recurrent -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuropathy, recurrent, with pressure palsies -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162500 MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069382 -MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch OMIM:162500 neuropathy, hereditary, with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary, with liability to pressure palsies +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:closeMatch Orphanet:640 Hereditary neuropathy with liability to pressure palsies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162500 +MONDO:0008087 hereditary neuropathy with liability to pressure palsies skos:exactMatch NCIT:C176898 Neuropathy, Recurrent, with Pressure Palsies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuropathy, recurrent, with pressure palsies MONDO:0008089 neutropenia, chronic familial skos:closeMatch OMIM:162700 neutropenia, chronic familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukopenia, benign familial +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536227 +MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162800 MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053176 -MONDO:0008090 cyclic hematopoiesis skos:closeMatch Orphanet:2686 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch NCIT:C3820 Cyclic Neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia MONDO:0008090 cyclic hematopoiesis skos:closeMatch OMIM:162800 cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia -MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilia, hereditary MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilia, hereditary -MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162830 +MONDO:0008092 hereditary neutrophilia skos:closeMatch OMIM:162830 neutrophilia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilia, hereditary MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543669 +MONDO:0008092 hereditary neutrophilia skos:closeMatch Orphanet:279943 Hereditary neutrophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162830 +MONDO:0008093 nevus, epidermal skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162900 MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus sebaceous MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, keratinocytic, nonepidermolytic MONDO:0008093 nevus, epidermal skos:closeMatch OMIM:162900 nevus, epidermal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus, woolly hair -MONDO:0008093 nevus, epidermal skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162900 -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevi flammei, familial multiple -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformations, congenital -MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations, congenital MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformations, congenital +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevi flammei, familial multiple MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym port-wine stain -MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163000 +MONDO:0008094 familial multiple nevi flammei skos:closeMatch OMIM:163000 capillary malformations, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformations, congenital MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067193 MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235752 -MONDO:0008095 nevus anemicus skos:closeMatch NCIT:C3943 Nevus Anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus +MONDO:0008094 familial multiple nevi flammei skos:closeMatch Orphanet:624 Familial multiple nevi flammei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163000 MONDO:0008095 nevus anemicus skos:closeMatch OMIM:163050 nevus anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus +MONDO:0008095 nevus anemicus skos:closeMatch NCIT:C3943 Nevus Anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus anemicus MONDO:0008095 nevus anemicus skos:closeMatch OMIM:163050 nevus anemicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus anemicus MONDO:0008096 nevus flammeus of nape of neck skos:closeMatch OMIM:163100 nevus flammeus of nape of neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythema nuchae MONDO:0008096 nevus flammeus of nape of neck skos:closeMatch OMIM:163100 nevus flammeus of nape of neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unna nevus -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous nevus syndrome, linear MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear sebaceous nevus syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimmelpenning-feuerstein-mims syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermal nevus syndrome, formerly -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimmelpenning-feuerstein-mims syndrome -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous nevus syndrome, linear -MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermal nevus syndrome +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym organoid nevus phakomatosis +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermal nevus syndrome, formerly +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn nevus phakomatosis +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermal nevus syndrome MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch Orphanet:2612 Linear nevus sebaceus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163200 -MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163400 +MONDO:0008097 linear nevus sebaceous syndrome skos:closeMatch OMIM:163200 schimmelpenning-feuerstein-mims syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sfm syndrome MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic dysplasia, nievergelt type +MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163400 MONDO:0008098 mesomelic dwarfism, Nievergelt type skos:closeMatch Orphanet:2633 Mesomelic dysplasia, Nievergelt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432231 -MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163500 MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch OMIM:163500 night blindness, congenital stationary, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008099 congenital stationary night blindness autosomal dominant 2 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163500 MONDO:0008100 nipples inverted skos:closeMatch OMIM:163600 nipples inverted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mammillae invertitae -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nipples, supernumerary -MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163700 MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polythelia, familial -MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nipples, supernumerary MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory nipples +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia +MONDO:0008101 familial supernumerary nipples skos:closeMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nipples, supernumerary +MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:2456 Familial supernumerary nipples semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163700 MONDO:0008101 familial supernumerary nipples skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymastia -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation with bradyarrhythmia +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 with or without cardiac noncompaction and/or ascending aorta dilation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome type 2 with or without cardiac noncompaction and/or ascending aorta dilation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial, autosomal dominant +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch OMIM:163800 sick sinus syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation with bradyarrhythmia MONDO:0008102 sick sinus syndrome 2, autosomal dominant skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163800 -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner phenotype with normal karyotype -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym female pseudo-turner syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male turner syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch NCIT:C34854 Noonan Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome -MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163950 MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:163950 MONDO:0008104 Noonan syndrome 1 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch NCIT:C34854 Noonan Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male turner syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym female pseudo-turner syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0008104 Noonan syndrome 1 skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner phenotype with normal karyotype MONDO:0008105 nose, anomalous shape of skos:closeMatch OMIM:164000 nose, anomalous shape of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potato nose -MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796092 -MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 +MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch OMIM:164100 nystagmus 2, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 2, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164180 MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 -MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ocular cicatricial pemphigoid -MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164185 +MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538088 +MONDO:0008108 oculocerebrocutaneous syndrome skos:closeMatch Orphanet:1647 Oculocerebrocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796092 MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular cicatricial pemphigoid -MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164200 +MONDO:0008109 ocular cicatricial pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164185 +MONDO:0008109 ocular cicatricial pemphigoid skos:exactMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ocular cicatricial pemphigoid MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063691 +MONDO:0008111 oculodentodigital dysplasia skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164200 +MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular hypotelorism, submucosal cleft palate, and hypospadias +MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164220 MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, hypotelorism, and hypospadias MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharofacioskeletal syndrome -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch Orphanet:2353 Schilbach-Rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164220 -MONDO:0008113 Schilbach-Rott syndrome skos:closeMatch OMIM:164220 schilbach-rott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular hypotelorism, submucosal cleft palate, and hypospadias -MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement +MONDO:0008114 obsessive-compulsive disorder skos:narrowMatch ICD10CM:F42.8 Other obsessive-compulsive disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym obsessive-compulsive disorder semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and tracheoesophageal fistula syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and digital abnormalities with normal intelligence -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmt syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodigitoesophagoduodenal syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmt syndrome +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and digital abnormalities with normal intelligence +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch NCIT:C74987 Feingold Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oded syndrome -MONDO:0008115 Feingold syndrome type 1 skos:closeMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 1 semapv:RegularExpressionReplacement MONDO:0008115 Feingold syndrome type 1 skos:closeMatch Orphanet:391641 Feingold syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164280 -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270952 +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052181 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164300 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d039141 -MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052181 -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834013 -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164330 -MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoma-dysphagia syndrome +MONDO:0008116 oculopharyngeal muscular dystrophy skos:closeMatch Orphanet:270 Oculopharyngeal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270952 MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoma-dysphagia syndrome -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch OMIM:164330 odontoma-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoma-dysphagia syndrome +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164330 +MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome skos:closeMatch Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834013 MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164400 -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164400 +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752120 MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch NCIT:C129982 Spinocerebellar Ataxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch OMIM:164400 spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 +MONDO:0008119 spinocerebellar ataxia type 1 skos:closeMatch Orphanet:98755 Spinocerebellar ataxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 1 semapv:RegularExpressionReplacement +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch OMIM:164745 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:93328 Autosomal dominant omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 MONDO:0008124 omphalocele, autosomal skos:closeMatch OMIM:164750 omphalocele, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p31 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008124 omphalocele, autosomal skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164750 -MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, hereditary distal MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, partial, with scleronychia +MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onycholysis, hereditary distal MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833872 +MONDO:0008125 nonsyndromic congenital nail disorder 5 skos:closeMatch OMIM:164800 nail disorder, nonsyndromic congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164900 +MONDO:0008127 ophthalmomandibulomelic dysplasia skos:closeMatch Orphanet:2741 Ophthalmomandibulomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833872 MONDO:0008128 ophthalmoplegia, familial static skos:closeMatch OMIM:165000 ophthalmoplegia, familial static semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, nonprogressive, congenital hereditary -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833835 -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165150 -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, progressive, with scrotal tongue and mental deficiency MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive, with scrotal tongue and mental deficiency +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch OMIM:165150 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, progressive, with scrotal tongue and mental deficiency +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165150 +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome skos:closeMatch Orphanet:2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833835 MONDO:0008131 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165199 MONDO:0008132 optic atrophy with demyelinating disease of CNS skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165200 -MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy and cataract, autosomal dominant +MONDO:0008133 optic atrophy 3 skos:closeMatch OMIM:165300 optic atrophy 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833809 +MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537128 -MONDO:0008133 optic atrophy 3 skos:closeMatch Orphanet:67036 Autosomal dominant optic atrophy and cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165300 -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, juvenile -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kjer-type optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kjer-type optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement -MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165500 +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch OMIM:165500 optic atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, juvenile MONDO:0008134 autosomal dominant optic atrophy, classic form skos:exactMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch NCIT:C169000 Optic Atrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve aplasia, bilateral +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165500 +MONDO:0008134 autosomal dominant optic atrophy, classic form skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 1 semapv:RegularExpressionReplacement +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated optic nerve hypoplasia/aplasia +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165550 MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia, bilateral -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165550 -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch Orphanet:137902 Isolated optic nerve hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated optic nerve hypoplasia/aplasia +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch OMIM:165550 optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve aplasia, bilateral MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch NCIT:C98999 Optic Nerve Hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with fibular aplasia -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement -MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 semapv:RegularExpressionReplacement MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833796 MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165590 -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orbital margin, hypoplasia of -MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orbital margin, hypoplasia of +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch Orphanet:2756 Orofaciodigital syndrome type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 10 semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008137 orofaciodigital syndrome X skos:closeMatch OMIM:165590 orofaciodigital syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with fibular aplasia MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833795 MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch Orphanet:98606 Syndromic orbital border hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165600 -MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow -MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and macrocytosis +MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orbital margin, hypoplasia of +MONDO:0008138 syndromic orbital border hypoplasia skos:closeMatch OMIM:165600 orbital margin, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orbital margin, hypoplasia of +MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537138 -MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165660 MONDO:0008139 OSLAM syndrome skos:closeMatch Orphanet:2760 OSLAM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833792 -MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165700 -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann epiphyseal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and macrocytosis +MONDO:0008139 OSLAM syndrome skos:closeMatch OMIM:165660 oslam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthropathy of fingers, familial +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiemann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008142 Thiemann disease, familial form skos:closeMatch Orphanet:3314 Thiemann disease, familial form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165700 +MONDO:0008142 Thiemann disease, familial form skos:closeMatch OMIM:165700 thiemann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiemann epiphyseal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oa MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of hip, female-specific, susceptibility to MONDO:0008143 osteoarthritis susceptibility 1 skos:closeMatch OMIM:165720 osteoarthritis susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthrosis -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014642 -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014084 MONDO:0008145 Ollier disease skos:exactMatch OMIM:133700 exostoses, multiple, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteochondromatosis -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 -MONDO:0008145 Ollier disease skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 MONDO:0008145 Ollier disease skos:closeMatch NCIT:C3008 Enchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enchondromatosis -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with blue sclerae -MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta tarda +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166000 +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:296 Ollier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014084 +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024454 +MONDO:0008145 Ollier disease skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206641 MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166200 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 -MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 +MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta tarda +MONDO:0008146 osteogenesis imperfecta type 1 skos:closeMatch OMIM:166200 osteogenesis imperfecta, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with blue sclerae MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, perinatal lethal form MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch OMIM:166210 osteogenesis imperfecta, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita +MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 +MONDO:0008147 osteogenesis imperfecta type 2 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166210 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268363 +MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536045 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch OMIM:166220 osteogenesis imperfecta, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with normal sclerae -MONDO:0008148 osteogenesis imperfecta type 4 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166220 MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch OMIM:166230 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures -MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:216796 Osteogenesis imperfecta type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 +MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166230 +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglosphonic dysplasia MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166250 -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch Orphanet:2645 Osteoglosphonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536050 -MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglophonic dysplasia MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoglophonic dysplasia -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia +MONDO:0008150 osteoglophonic dwarfism skos:closeMatch OMIM:166250 osteoglophonic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoglophonic dysplasia MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal sclerosis -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with unusual skeletal lesions -MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch Orphanet:53697 Gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166260 MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gnathodiaphyseal dysplasia -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch NCIT:C178416 Multicentric Carpotarsal Osteolysis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric carpotarsal osteolysis syndrome +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with unusual skeletal lesions +MONDO:0008151 gnathodiaphyseal dysplasia skos:closeMatch OMIM:166260 gnathodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gnathodiaphyseal dysplasia MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric carpotarsal osteolysis syndrome MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary, of carpal bones with or without nephropathy -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric osteolysis, autosomal dominant -MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674705 MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166300 +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch Orphanet:2774 Multicentric carpo-tarsal osteolysis with or without nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674705 +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch NCIT:C178416 Multicentric Carpotarsal Osteolysis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicentric carpotarsal osteolysis syndrome +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy skos:closeMatch OMIM:166300 multicentric carpotarsal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicentric osteolysis, autosomal dominant +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoma cutis -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osseous heteroplasia, progressive MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166350 -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334041 MONDO:0008153 progressive osseous heteroplasia skos:closeMatch Orphanet:2762 Progressive osseous heteroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048902 -MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous heteroplasia, progressive +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osseous heteroplasia, progressive MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopic ossification, familial MONDO:0008153 progressive osseous heteroplasia skos:closeMatch NCIT:C132062 Osteoma Cutis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoma cutis -MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432264 +MONDO:0008153 progressive osseous heteroplasia skos:closeMatch OMIM:166350 osseous heteroplasia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous heteroplasia, progressive MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166450 +MONDO:0008155 osteomesopyknosis skos:closeMatch Orphanet:2777 Osteomesopyknosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432264 +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal dominant MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis fragilis generalisata +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal dominant -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179239 -MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch OMIM:166600 osteopetrosis, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata with osteopoikilosis -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata, isolated +MONDO:0008156 autosomal dominant osteopetrosis 2 skos:closeMatch Orphanet:53 Albers-Schönberg osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166600 MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopathia condensans disseminata MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatoosteopoikilosis -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis, disseminated, with osteopoikilosis +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata with osteopoikilosis MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis, isolated -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 -MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis lenticularis disseminata, isolated +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatofibrosis, disseminated, with osteopoikilosis MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:166119 Isolated osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatoosteopoikilosis MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bos +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537415 +MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch Orphanet:1306 Buschke-Ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166700 MONDO:0008157 Buschke-Ollendorff syndrome skos:closeMatch OMIM:166700 buschke-ollendorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis with melorheostosis +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833698 +MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166705 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopoikilosis and dacryocystitis MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch OMIM:166705 osteopoikilosis and dacryocystitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopoikilosis and dacryocystitis MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536061 -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166705 -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome skos:closeMatch Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833698 -MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, postmenopausal MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone mineral density quantitative trait locus +MONDO:0008159 postmenopausal osteoporosis skos:closeMatch OMIM:166710 osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, postmenopausal MONDO:0008160 osteosclerosis with ichthyosis and fractures skos:closeMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical thickening of long bones with bowing and ichthyosis -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 +MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otodental syndrome with coloboma MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculootodental syndrome -MONDO:0008161 otodental syndrome skos:closeMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otodental syndrome with coloboma -MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculootodental syndrome +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833693 +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:2791 Otodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166750 +MONDO:0008161 otodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculootodental syndrome MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym come/rom MONDO:0008162 otitis media, susceptibility to skos:closeMatch OMIM:166760 otitis media, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otitis media, chronic/recurrent -MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931416 MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833691 -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovalocytosis, southeast asian +MONDO:0008163 otofaciocervical syndrome skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931416 +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166900 MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovalocytosis, southeast asian +MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovalocytosis, southeast asian MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he, stomatocytic MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166900 MONDO:0008165 southeast Asian ovalocytosis skos:closeMatch OMIM:166900 ovalocytosis, southeast asian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis, stomatocytic hereditary -MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teratoma, ovarian -MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cyst, ovarian MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, ovarian -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064257 -MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149951 -MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian fibromata +MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cyst, ovarian +MONDO:0008167 dermoid cyst of ovary skos:closeMatch OMIM:166950 teratoma, ovarian semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teratoma, ovarian MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian fibromata +MONDO:0008168 ovarian fibroma skos:closeMatch OMIM:166970 ovarian fibromata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian fibromata +MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149951 +MONDO:0008168 ovarian fibroma skos:closeMatch Orphanet:314473 Ovarian fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064257 MONDO:0008170 ovarian cancer skos:closeMatch OMIM:167000 ovarian cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, epithelial MONDO:0008171 nephrolithiasis skos:exactMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kidney stones -MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal dominant -MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal dominant +MONDO:0008171 nephrolithiasis skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal dominant +MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal dominant +MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch OMIM:167100 hypertrophic osteoarthropathy, primary, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal dominant MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167100 -MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jadassohn-lewandowsky type, formerly MONDO:0008173 pachyonychia congenita 1 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167200 MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jadassohn-lewandowsky syndrome, formerly -MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167210 +MONDO:0008173 pachyonychia congenita 1 skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jadassohn-lewandowsky type, formerly MONDO:0008174 pachyonychia congenita 2 skos:closeMatch OMIM:167210 pachyonychia congenita 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachyonychia congenita, jackson-lawler type, formerly +MONDO:0008174 pachyonychia congenita 2 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167210 +MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833676 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538095 MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167220 -MONDO:0008175 pacman dysplasia skos:closeMatch Orphanet:1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833676 MONDO:0008175 pacman dysplasia skos:closeMatch OMIM:167220 pacman dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal stippling with osteoclastic hyperplasia -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167300 -MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 -MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068223 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033366 MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010145 +MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167300 MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030186 -MONDO:0008177 extramammary Paget disease skos:closeMatch Orphanet:2800 Extramammary Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033366 -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower motor neuron degeneration with paget-like bone disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis +MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008177 extramammary Paget disease skos:closeMatch OMIM:167300 paget disease, extramammary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder, extramammary semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, with paget disorder of bone semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lower motor neuron degeneration with paget-like bone disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch OMIM:167320 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagetoid amyotrophic lateral sclerosis MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167320 MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 skos:closeMatch NCIT:C122663 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inclusion body myopathy with early-onset paget disorder with or without frontotemporal dementia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pexpd MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167400 -MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pain, submandibular, ocular, and rectal, with flushing MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch Orphanet:46348 Paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833661 MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rectal pain, familial -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palatopharyngeal incompetence -MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palatopharyngeal incompetence +MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pain, submandibular, ocular, and rectal, with flushing +MONDO:0008179 paroxysmal extreme pain disorder skos:closeMatch OMIM:167400 paroxysmal extreme pain disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pexpd +MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palatopharyngeal incompetence +MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palatopharyngeal incompetence MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal incompetence MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch OMIM:167500 palatopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velopharyngeal insufficiency MONDO:0008180 congenital velopharyngeal incompetence skos:closeMatch Orphanet:2291 Congenital velopharyngeal incompetence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167500 +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palpebral coloboma-lipoma syndrome +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopalpebral lipoma-coloboma syndrome +MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868660 MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167730 -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch Orphanet:2399 Nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopalpebral lipoma-coloboma syndrome -MONDO:0008182 nasopalpebral lipoma-coloboma syndrome skos:closeMatch OMIM:167730 nasopalpebral lipoma-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palpebral coloboma-lipoma syndrome -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167750 -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 -MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071757 -MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas, annular +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149955 +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167750 MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreas, annular +MONDO:0008183 annular pancreas skos:closeMatch OMIM:167750 pancreas, annular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas, annular +MONDO:0008183 annular pancreas skos:closeMatch Orphanet:675 Annular pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536376 MONDO:0008184 pancreas, dorsal, agenesis of skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167755 -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, calcific -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatitis, hereditary -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, hereditary -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, protection against MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch Orphanet:676 Hereditary chronic pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167800 -MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, susceptibility to MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:140100 HP semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hp MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hp +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, calcific +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, susceptibility to +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatitis, hereditary +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, hereditary +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic +MONDO:0008185 hereditary chronic pancreatitis skos:closeMatch OMIM:167800 pancreatitis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatitis, chronic, protection against MONDO:0008187 panic disorder 1 skos:closeMatch OMIM:167870 panic disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008187 panic disorder 1 skos:closeMatch NCIT:C34890 Panic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panic disorder -MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, familial cutaneous -MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carp MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, reticulated and confluent, of gougerot and carteaud +MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carp +MONDO:0008188 papillomatosis, confluent and reticulated skos:closeMatch OMIM:167900 papillomatosis, confluent and reticulated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillomatosis, familial cutaneous +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomata MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chemodectomas -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial nonchromaffin, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas with sensorineural hearing loss +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma, carotid body +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas with sensorineural hearing loss +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial nonchromaffin, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carotid body tumors MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus jugulare tumors -MONDO:0008192 paragangliomas 1 skos:closeMatch OMIM:168000 paragangliomas 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomata MONDO:0008192 paragangliomas 1 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168000 MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch OMIM:168100 paralysis agitans, juvenile, of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, of hunt semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008193 paralysis agitans, juvenile, of Hunt skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168100 MONDO:0008194 Paramolar tubercle of bolk skos:closeMatch OMIM:168200 paramolar tubercle of bolk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bolk cusp -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paralysis periodica paramyotonica MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168300 +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita without cold paralysis +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch Orphanet:684 Paramyotonia congenita of Von Eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg +MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita of von eulenburg MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch NCIT:C122794 Paramyotonia Congenita without Cold Paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita without cold paralysis MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paramyotonia congenita of von eulenburg -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita of von eulenburg -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paralysis periodica paramyotonica -MONDO:0008195 paramyotonia congenita of Von Eulenburg skos:closeMatch OMIM:168300 paramyotonia congenita of von eulenburg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paramyotonia congenita without cold paralysis +MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168400 MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537172 -MONDO:0008196 parastremmatic dwarfism skos:closeMatch Orphanet:2646 Parastremmatic dwarfism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168400 +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks +MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168500 MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks -MONDO:0008197 parietal foramina 1 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foramina parietalia permagna -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catlin marks +MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parietal foramina, symmetric MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum occultum MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranium bifidum, hereditary -MONDO:0008197 parietal foramina 1 skos:closeMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parietal foramina, symmetric +MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868597 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parietal foramina with clavicular hypoplasia -MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch Orphanet:251290 Parietal foramina with clavicular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168550 MONDO:0008198 parietal foramina with cleidocranial dysplasia skos:closeMatch OMIM:168550 parietal foramina with cleidocranial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with parietal foramina MONDO:0008199 late-onset Parkinson disease skos:exactMatch NCIT:C53542 Park semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label park +MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 1, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch OMIM:168601 parkinson disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical parkinson disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 -MONDO:0008200 autosomal dominant Parkinson disease 1 skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168601 MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868594 MONDO:0008201 Perry syndrome skos:closeMatch Orphanet:178509 Perry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168605 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168860 MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch Orphanet:86789 Patella aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535568 -MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella aplasia-hypoplasia MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella aplasia-hypoplasia -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal tonic upgaze, benign childhood, with ataxia -MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal tonic upgaze, benign childhood, with ataxia +MONDO:0008205 patella aplasia/hypoplasia skos:closeMatch OMIM:168860 patella aplasia-hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella aplasia-hypoplasia MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868576 MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch Orphanet:1179 Benign paroxysmal tonic upgaze of childhood with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:168885 +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal tonic upgaze, benign childhood, with ataxia +MONDO:0008206 benign paroxysmal tonic upgaze of childhood with ataxia skos:closeMatch OMIM:168885 paroxysmal tonic upgaze, benign childhood, with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal tonic upgaze, benign childhood, with ataxia MONDO:0008207 chondromalacia patellae skos:closeMatch OMIM:168900 patella, chondromalacia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patella, chondromalacia of MONDO:0008207 chondromalacia patellae skos:closeMatch OMIM:168900 patella, chondromalacia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patella, chondromalacia of -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868570 -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169100 MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868570 MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome -MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char syndrome MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label char syndrome -MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169100 +MONDO:0008209 Char syndrome skos:closeMatch Orphanet:46627 Char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus with facial dysmorphism and abnormal fifth digits +MONDO:0008209 Char syndrome skos:closeMatch OMIM:169100 char syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym char syndrome +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169150 -MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym butterfly dystrophy of retinal pigment epithelium -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome +MONDO:0008210 patterned macular dystrophy 1 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169150 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patterson pseudoleprechaunism syndrome +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch OMIM:169170 patterson pseudoleprechaunism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome +MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536310 -MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patterson pseudoleprechaunism syndrome MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169170 MONDO:0008211 pseudoleprechaunism syndrome, Patterson type skos:closeMatch Orphanet:2976 Pseudoleprechaunism syndrome, Patterson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868546 MONDO:0008212 Pechet factor deficiency skos:closeMatch OMIM:169200 pechet factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dynia factor deficiency MONDO:0008213 pectus excavatum skos:closeMatch OMIM:169300 pectus excavatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym funnel chest -MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pectus excavatum -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169500 -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher disorder, autosomal dominant or late-onset type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008213 pectus excavatum skos:exactMatch NCIT:C168386 Pectus Excavatum semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pectus excavatum MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, demyelinating, adult-onset, autosomal dominant MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, demyelinating, adult-onset, autosomal dominant -MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868508 +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch OMIM:169500 leukodystrophy, demyelinating, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher disorder, autosomal dominant or late-onset type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy skos:closeMatch Orphanet:99027 Adult-onset autosomal dominant leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169500 MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169550 -MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085106 +MONDO:0008217 pelvis-shoulder dysplasia skos:closeMatch Orphanet:2839 Pelvis-shoulder dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868508 +MONDO:0008218 Hailey-Hailey disease skos:closeMatch NCIT:C82865 Familial Benign Pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign pemphigus MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign chronic pemphigus +MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085106 MONDO:0008218 Hailey-Hailey disease skos:closeMatch Orphanet:2841 Familial benign chronic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169600 -MONDO:0008218 Hailey-Hailey disease skos:closeMatch NCIT:C82865 Familial Benign Pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial benign pemphigus MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:169610 MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030809 MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pemphigus vulgaris, familial MONDO:0008219 pemphigus vulgaris skos:closeMatch OMIM:169610 pemphigus vulgaris, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigus vulgaris, familial MONDO:0008219 pemphigus vulgaris skos:closeMatch Orphanet:704 Pemphigus vulgaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052802 -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268532 -MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170100 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056732 +MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170100 +MONDO:0008221 prolidase deficiency skos:closeMatch Orphanet:742 Prolidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268532 +MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170390 -MONDO:0008222 Andersen-Tawil syndrome skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypokalemic periodic paralysis -MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 +MONDO:0008223 hypokalemic periodic paralysis skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypokalemic periodic paralysis MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238358 MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 +MONDO:0008223 hypokalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020514 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 -MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170500 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020513 MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238357 -MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, juvenile -MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, prepubertal +MONDO:0008224 hyperkalemic periodic paralysis skos:closeMatch Orphanet:682 Hyperkalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170500 MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, prepubertal MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, aggressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 +MONDO:0008226 periodontitis, aggressive 1 skos:closeMatch OMIM:170650 periodontitis, aggressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periodontitis, juvenile MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:1795 Peripheral dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170700 +MONDO:0008227 peripheral dysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 MONDO:0008228 pernicious anemia skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intrinsic factor deficiency MONDO:0008228 pernicious anemia skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency MONDO:0008228 pernicious anemia skos:exactMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym intrinsic factor deficiency -MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 MONDO:0008233 pheochromocytoma skos:closeMatch OMIM:171300 pheochromocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma, susceptibility to -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 +MONDO:0008233 pheochromocytoma skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171300 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 -MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171400 +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018813 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, familial medullary +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:99361 Familial medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833921 MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pheochromocytoma and amyloid-producing medullary thyroid carcinoma MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:171400 multiple endocrine neoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch OMIM:155240 thyroid carcinoma, familial medullary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, familial medullary +MONDO:0008234 multiple endocrine neoplasia type 2A skos:closeMatch Orphanet:247698 Multiple endocrine neoplasia type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025268 MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch OMIM:171480 phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculoradial dysplasia MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868390 MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome skos:closeMatch Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:171480 MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphatase, acid, of tissues -MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphatase, acid, of tissues -MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch NCIT:C185001 Lysosomal Acid Phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp3--alpha polypeptide MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171660 phosphatase, acid, of tissues semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase +MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch NCIT:C185001 Lysosomal Acid Phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysosomal acid phosphatase MONDO:0008238 phosphatase, acid, of tissues skos:closeMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal acid phosphatase +MONDO:0008238 phosphatase, acid, of tissues skos:exactMatch OMIM:171650 ACP2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphatase, acid, of tissues MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm4 MONDO:0008239 phosphoglucomutase 4 skos:closeMatch OMIM:172110 phosphoglucomutase 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym milk pgm MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgls deficiency MONDO:0008240 6-phosphogluconolactonase deficiency skos:closeMatch OMIM:172150 6-phosphogluconolactonase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 6pgl deficiency MONDO:0008242 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction skos:closeMatch OMIM:172500 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herrmann syndrome -MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 MONDO:0008243 Pick disease skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 -MONDO:0008243 Pick disease skos:closeMatch OMIM:172700 pick disease of brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia with lobar atrophy and neuronal cytoplasmic inclusions -MONDO:0008243 Pick disease skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 MONDO:0008243 Pick disease skos:closeMatch NCIT:C85008 Pick's Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label picks disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008243 Pick disease skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 +MONDO:0008243 Pick disease skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 +MONDO:0008243 Pick disease skos:closeMatch OMIM:172700 pick disease of brain semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia with lobar atrophy and neuronal cytoplasmic inclusions MONDO:0008243 Pick disease skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172700 -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172800 +MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080024 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016116 -MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0080024 -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868311 -MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172850 +MONDO:0008244 piebaldism skos:closeMatch Orphanet:2884 Piebaldism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172800 MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym piebald trait with neurologic defects MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch OMIM:172850 piebald trait with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label piebald trait with neurologic defects -MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172870 +MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172850 +MONDO:0008245 piebald trait-neurologic defects syndrome skos:closeMatch Orphanet:2885 Piebald trait-neurologic defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868311 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868310 +MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch Orphanet:251295 Pigmented paravenous retinochoroidal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172870 MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented paravenous chorioretinal atrophy MONDO:0008246 pigmented paravenous retinochoroidal atrophy skos:closeMatch OMIM:172870 pigmented paravenous chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented paravenous chorioretinal atrophy MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:172880 -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence and oligodactyly -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome and oligodactyly -MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868309 MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868309 +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome and oligodactyly +MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence and oligodactyly MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch OMIM:172880 pierre robin syndrome and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome and oligodactyly MONDO:0008247 robin sequence-oligodactyly syndrome skos:closeMatch Orphanet:3104 Robin sequence-oligodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535688 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271567 -MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch OMIM:173100 isolated growth hormone deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal dominant MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 -MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035116 +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173100 +MONDO:0008250 isolated growth hormone deficiency type II skos:closeMatch Orphanet:231679 Isolated growth hormone deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271567 MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173200 +MONDO:0008251 familial pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035116 MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:172480 PSPH semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp +MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pneumothorax, primary spontaneous MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumothorax, primary spontaneous MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch Orphanet:2903 Familial spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173600 -MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch OMIM:173600 pneumothorax, primary spontaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psp -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital bullous poikiloderma +MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous acrokeratotic poikiloderma of kindler and weary +MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kindler syndrome MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary acrokeratotic MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome -MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kindler syndrome -MONDO:0008260 Kindler syndrome skos:closeMatch OMIM:173650 kindler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bullous acrokeratotic poikiloderma of kindler and weary -MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kindler syndrome -MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173700 +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536321 +MONDO:0008260 Kindler syndrome skos:closeMatch Orphanet:2908 Kindler epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital bullous poikiloderma MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch OMIM:173700 poikiloderma, hereditary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary sclerosing +MONDO:0008261 hereditary sclerosing poikiloderma, Weary type skos:closeMatch Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173700 +MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 +MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poland syndactyly +MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectoralis muscle, absence of MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032357 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036007 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173800 MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 -MONDO:0008262 Poland syndrome skos:closeMatch Orphanet:2911 Poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011045 -MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectoralis muscle, absence of -MONDO:0008262 Poland syndrome skos:closeMatch OMIM:173800 poland syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poland syndactyly -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, adult semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, adult semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008263 polycystic kidney disease 1 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:173900 +MONDO:0008263 polycystic kidney disease 1 skos:closeMatch OMIM:173900 polycystic kidney disease 1 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 1 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym medullary cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 +MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174050 MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048834 -MONDO:0008265 polycystic liver disease 1 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010427 MONDO:0008265 polycystic liver disease 1 skos:closeMatch NCIT:C82833 Polycystic Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 +MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174200 -MONDO:0008266 polydactyly, postaxial, type A1 skos:closeMatch OMIM:174200 polydactyly, postaxial, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868118 MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174300 MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 5 semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch Orphanet:2919 Orofaciodigital syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868118 -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008267 orofaciodigital syndrome V skos:closeMatch OMIM:174300 orofaciodigital syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with progressive myopia -MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with progressive myopia MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch Orphanet:2917 Polydactyly-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174310 +MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with progressive myopia +MONDO:0008268 polydactyly-myopia syndrome skos:closeMatch OMIM:174310 polydactyly, postaxial, with progressive myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with progressive myopia +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174400 MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 1 semapv:RegularExpressionReplacement MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb polydactyly -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch Orphanet:93339 Polydactyly of a biphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174400 +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thenar hypoplasia MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fromont anomaly -MONDO:0008269 polydactyly of a biphalangeal thumb skos:closeMatch OMIM:174400 polydactyly, preaxial 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thenar hypoplasia -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpt-ps syndrome -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb with polysyndactyly -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polysyndactyly syndrome -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumb with polysyndactyly -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly of triphalangeal thumb -MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polydactyly syndrome MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly of triphalangeal thumb +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumb with polysyndactyly MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868114 -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868113 -MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174600 -MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger polydactyly +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polysyndactyly syndrome +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch Orphanet:93336 Polydactyly of a triphalangeal thumb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174500 +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb with polysyndactyly +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumb-polydactyly syndrome +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:174500 polydactyly, preaxial 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008270 polydactyly of a triphalangeal thumb skos:closeMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpt-ps syndrome MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174600 MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008271 polydactyly of an index finger skos:closeMatch Orphanet:93337 Polydactyly of an index finger semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868113 +MONDO:0008271 polydactyly of an index finger skos:closeMatch OMIM:174600 polydactyly, preaxial 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger polydactyly MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063143 MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, preaxial type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial polydactyly type 4 semapv:RegularExpressionReplacement -MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868111 MONDO:0008272 polysyndactyly 4 skos:closeMatch OMIM:174700 polydactyly, preaxial 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, uncomplicated -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406217 -MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174770 +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868111 +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063143 +MONDO:0008272 polysyndactyly 4 skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174700 MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile spring eruption of ears MONDO:0008273 actinic prurigo skos:closeMatch OMIM:174770 actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymorphic light eruption, hereditary -MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyostotic fibrous dysplasia -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174770 +MONDO:0008273 actinic prurigo skos:closeMatch Orphanet:330061 Actinic prurigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406217 +MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036120 -MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic osteolytic dysplasia, hereditary expansile +MONDO:0008274 polyostotic fibrous dysplasia skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0008274 polyostotic fibrous dysplasia skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polyostotic fibrous dysplasia +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 +MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic osteolytic dysplasia, hereditary expansile MONDO:0008275 familial expansile osteolysis skos:closeMatch OMIM:174810 familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym expansile osteolysis, familial MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174810 -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mccabe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008275 familial expansile osteolysis skos:closeMatch Orphanet:85195 Familial expansile osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536335 -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis coli MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, juvenile intestinal -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of stomach +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, familial, of entire gastrointestinal tract +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of stomach +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch NCIT:C7754 Juvenile Polyposis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile intestinal polyposis -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch NCIT:C7754 Juvenile Polyposis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis syndrome -MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli skos:closeMatch OMIM:174900 juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis coli -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, generalized juvenile, with pulmonary arteriovenous malformation -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jp/hht syndrome -MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, generalized juvenile, with pulmonary arteriovenous malformation MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jps/hht MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis with hereditary hemorrhagic telangiectasia -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175200 -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch OMIM:175050 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175050 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175200 MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034764 -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps-and-spots syndrome MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, hamartomatous intestinal -MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031269 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch Orphanet:2869 Peutz-Jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010580 +MONDO:0008280 Peutz-Jeghers syndrome skos:closeMatch OMIM:175200 peutz-jeghers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps-and-spots syndrome MONDO:0008281 polyposis, intestinal, scattered and discrete skos:closeMatch OMIM:175400 polyposis, intestinal, scattered and discrete semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyps, scattered, discrete intestinal -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, skin pigmentation, alopecia, and fingernail changes MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175500 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282207 MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyposis, skin pigmentation, alopecia, and fingernail changes -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 -MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch OMIM:175500 polyposis, skin pigmentation, alopecia, and fingernail changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, skin pigmentation, alopecia, and fingernail changes MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062907 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:2930 Cronkhite-Canada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282207 +MONDO:0008283 Cronkhite-Canada syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044483 MONDO:0008284 polyposis of gastric fundus without polyposis coli skos:closeMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundic gland polyposis MONDO:0008285 polyps, multiple and recurrent inflammatory fibroid, gastrointestinal skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175510 -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175690 -MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867999 -MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly, crossed MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, crossed -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with peculiar skull shape +MONDO:0008286 crossed polysyndactyly skos:closeMatch OMIM:175690 polysyndactyly, crossed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polysyndactyly, crossed +MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867999 +MONDO:0008286 crossed polysyndactyly skos:closeMatch Orphanet:2935 Crossed polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175690 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265306 -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053878 +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch OMIM:175700 greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly with peculiar skull shape +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175700 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537300 -MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175700 +MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch Orphanet:380 Greig cephalopolysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053878 MONDO:0008287 Greig cephalopolysyndactyly syndrome skos:closeMatch NCIT:C35255 Greig Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label greig syndrome -MONDO:0008288 popliteal cyst skos:closeMatch OMIM:175750 popliteal cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baker cyst MONDO:0008288 popliteal cyst skos:closeMatch NCIT:C34935 Baker Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baker cyst -MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 +MONDO:0008288 popliteal cyst skos:closeMatch OMIM:175750 popliteal cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baker cyst MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 +MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175780 -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis of mibelli MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis of mibelli MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175800 +MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 1, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008290 porokeratosis 1, Mibelli type skos:closeMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis of mibelli MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch Orphanet:737 Porokeratosis plantaris palmaris et disseminata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175850 +MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis palmaris et plantaris disseminata MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, palmar, plantar, and disseminated -MONDO:0008291 porokeratosis plantaris palmaris et disseminata skos:closeMatch OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis palmaris et plantaris disseminata -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867982 +MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175860 +MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867982 MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch OMIM:175860 palmoplantar keratoderma, punctate iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris -MONDO:0008292 punctate palmoplantar keratoderma type 2 skos:closeMatch Orphanet:79502 Punctate palmoplantar keratoderma type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis punctata palmaris et plantaris MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175900 -MONDO:0008293 porokeratosis 3, disseminated superficial actinic type skos:closeMatch OMIM:175900 porokeratosis 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbgd deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen deaminase deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162565 +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 +MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent, nonerythroid variant MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute intermittent +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen synthase deficiency +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbgd deficiency MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute intermittent MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ups deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen synthase deficiency -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162565 -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176000 -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 -MONDO:0008294 acute intermittent porphyria skos:closeMatch Orphanet:79276 Acute intermittent porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017118 +MONDO:0008294 acute intermittent porphyria skos:closeMatch OMIM:176000 porphyria, acute intermittent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen deaminase deficiency MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 -MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867968 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008295 sporadic porphyria cutanea tarda skos:closeMatch Orphanet:443057 Sporadic porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176090 MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urod deficiency +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, hepatoerythropoietic MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen decarboxylase deficiency -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch NCIT:C27725 Porphyria Cutanea Tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda -MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162532 -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176200 -MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria variegata +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria cutanea tarda +MONDO:0008296 familial porphyria cutanea tarda skos:closeMatch Orphanet:443062 Familial porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176100 MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppox deficiency MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria variegata MONDO:0008297 variegate porphyria skos:closeMatch OMIM:176200 variegate porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym variegate porphyria, homozygous variant -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postaxial oligodactyly, tetramelic -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial oligodactyly, tetramelic -MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 +MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176200 +MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria variegata +MONDO:0008297 variegate porphyria skos:closeMatch Orphanet:79473 Porphyria variegata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162532 MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176240 +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch Orphanet:2730 Postaxial tetramelic oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867924 +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial oligodactyly, tetramelic +MONDO:0008298 postaxial tetramelic oligodactyly skos:closeMatch OMIM:176240 postaxial oligodactyly, tetramelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postaxial oligodactyly, tetramelic MONDO:0008299 posterior column ataxia skos:closeMatch OMIM:176250 posterior column ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond ataxia MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036476 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi syndrome chromosome region MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032897 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome associated with chromosome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008300 Prader-Willi syndrome skos:closeMatch OMIM:176270 prader-willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi syndrome chromosome region +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011218 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 +MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177907 Prader-Willi syndrome due to translocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 MONDO:0008300 Prader-Willi syndrome skos:closeMatch Orphanet:177910 Prader-Willi syndrome due to imprinting mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176270 -MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176305 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 +MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538278 MONDO:0008301 Guttmacher syndrome skos:closeMatch Orphanet:2957 Guttmacher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867801 -MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial deficiency, postaxial polydactyly, and hypospadias MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preaxial deficiency, postaxial polydactyly, and hypospadias +MONDO:0008301 Guttmacher syndrome skos:closeMatch OMIM:176305 preaxial deficiency, postaxial polydactyly, and hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preaxial deficiency, postaxial polydactyly, and hypospadias MONDO:0008302 centra precocious puberty 1 skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063656 -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1504412 MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063654 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176410 MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty, male-limited -MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell adenoma, somatic, with male-limited precocious puberty MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label precocious puberty, male-limited +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell adenoma, somatic, with male-limited precocious puberty MONDO:0008303 familial male-limited precocious puberty skos:closeMatch OMIM:176410 precocious puberty, male-limited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sexual precocity, familial, gonadotropin-independent +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063656 +MONDO:0008303 familial male-limited precocious puberty skos:closeMatch Orphanet:3000 Familial male-limited precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1504412 MONDO:0008304 premature chromatid separation trait skos:closeMatch OMIM:176430 premature chromatid separation trait semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total premature chromatid separation trait -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 -MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scra1 MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis syndrome -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino syndrome -MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scra1 +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome +MONDO:0008305 Currarino triad skos:closeMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176450 +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label currarino syndrome +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536221 MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 +MONDO:0008305 Currarino triad skos:closeMatch Orphanet:1552 Currarino syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1531773 +MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867773 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538208 -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867773 +MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, familial british -MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:97345 ABri amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 MONDO:0008306 ABri amyloidosis skos:closeMatch Orphanet:439254 ITM2B amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176500 -MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset +MONDO:0008306 ABri amyloidosis skos:closeMatch OMIM:176500 cerebral amyloid angiopathy, itm2b-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, itm2b-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033300 +MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176670 MONDO:0008310 Hutchinson-Gilford progeria syndrome skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036794 -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176690 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536422 +MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176690 MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch Orphanet:2959 Progeria-short stature-pigmented nevi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261128 -MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid short stature with pigmented nevi MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progeroid short stature with pigmented nevi -MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'hapsburg jaw' -MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'habsburg jaw' +MONDO:0008311 progeria-short stature-pigmented nevi syndrome skos:closeMatch OMIM:176690 progeroid short stature with pigmented nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid short stature with pigmented nevi MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prognathism, mandibular +MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'habsburg jaw' MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prognathism, mandibular +MONDO:0008312 autosomal dominant prognathism skos:closeMatch OMIM:176700 prognathism, mandibular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'hapsburg jaw' MONDO:0008312 autosomal dominant prognathism skos:closeMatch Orphanet:2964 Autosomal dominant prognathism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176700 MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vaginal prolapse MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prolapse of vagina and rectum MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic organ prolapse, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch OMIM:176780 pelvic organ prolapse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rectal prolapse MONDO:0008313 pelvic organ prolapse, susceptibility to skos:closeMatch NCIT:C34973 Rectal Prolapse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rectal prolapse -MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prostate cancer MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prostate cancer +MONDO:0008315 prostate cancer skos:exactMatch OMIM:176807 prostate cancer semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prostate cancer +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal dominant +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, acquired -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein c deficiency, autosomal dominant -MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch OMIM:176860 thrombophilia due to protein c deficiency, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal dominant MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 -MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elattoproteus syndrome MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016715 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016715 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176920 MONDO:0008318 Proteus syndrome skos:closeMatch Orphanet:744 Proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085261 MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly +MONDO:0008318 Proteus syndrome skos:closeMatch OMIM:176920 proteus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elattoproteus syndrome MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch OMIM:177000 protoporphyria, erythropoietic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria MONDO:0008319 protoporphyria, erythropoietic, 1 skos:closeMatch Orphanet:79278 Autosomal erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177000 -MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protrusio acetabuli MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protrusio acetabuli -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177170 +MONDO:0008320 Protrusio acetabuli skos:closeMatch OMIM:177050 protrusio acetabuli semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protrusio acetabuli MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 -MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410538 MONDO:0008322 pseudoachondroplasia skos:closeMatch OMIM:177170 pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, pseudoachondroplastic +MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177170 MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535819 -MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liddle syndrome -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 +MONDO:0008322 pseudoachondroplasia skos:closeMatch Orphanet:750 Pseudoachondroplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410538 +MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoaldosteronism +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pseudohyperaldosteronism type 1 -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037113 -MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoaldosteronism +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056929 MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liddle syndrome -MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221043 +MONDO:0008323 Liddle syndrome skos:exactMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym liddle syndrome +MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037113 MONDO:0008323 Liddle syndrome skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052313 -MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis at elbow and knee MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary congenital rigidity of elbows and knees -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exfoliation syndrome -MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation glaucoma +MONDO:0008324 pseudoarthrogryposis skos:closeMatch OMIM:177300 pseudoarthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis at elbow and knee MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation syndrome MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label exfoliation syndrome +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym exfoliation syndrome +MONDO:0008327 exfoliation syndrome skos:exactMatch OMIM:177650 exfoliation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoexfoliation glaucoma +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal dominant MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal pseudohypoaldosteronism type 1 MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal pha1 -MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch OMIM:177735 pseudohypoaldosteronism, iia i, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal dominant -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177820 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal pseudohypoaldosteronism type 1 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449842 +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171871 Renal pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177735 MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand disorder, platelet-type semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, heterozygous +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudo-von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch Orphanet:52530 Pseudo-von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177820 +MONDO:0008332 platelet-type von Willebrand disease skos:closeMatch OMIM:177820 pseudo-von willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177850 -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haspeslagh syndrome -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygia, mental retardation, and distinctive craniofacial features -MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867443 +MONDO:0008333 pseudoxanthoma elasticum, forme fruste skos:closeMatch OMIM:177850 pseudoxanthoma elasticum, forme fruste semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, heterozygous MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177980 +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch Orphanet:2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867443 +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygia, mental retardation, and distinctive craniofacial features +MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome skos:closeMatch OMIM:177980 pterygia, impaired intellectual development, and distinctive craniofacial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haspeslagh syndrome MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium of conjunctiva and cornea MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch OMIM:178000 pterygium of conjunctiva and cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium of conjunctiva and cornea MONDO:0008337 familial pterygium of the conjunctiva skos:closeMatch Orphanet:2989 Familial pterygium of the conjunctiva semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178000 -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867440 +MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch Orphanet:65743 Autosomal dominant multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 +MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium, antecubital +MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium, antecubital MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178200 MONDO:0008339 antecubital pterygium syndrome skos:closeMatch Orphanet:2987 Antecubital pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867439 -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium, antecubital -MONDO:0008339 antecubital pterygium syndrome skos:closeMatch OMIM:178200 pterygium, antecubital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium, antecubital MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178300 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015996 MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, hereditary congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008340 ptosis, hereditary congenital, 1 skos:closeMatch OMIM:178300 ptosis, hereditary congenital 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, hereditary congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867437 MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch Orphanet:2999 Ptosis-strabismus-ectopic pupils syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178330 -MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, strabismus, and ectopic pupils MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, strabismus, and ectopic pupils -MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178370 +MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome skos:closeMatch OMIM:178330 ptosis, strabismus, and ectopic pupils semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ptosis, strabismus, and ectopic pupils MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344976 +MONDO:0008343 pulmonary atresia with ventricular septal defect skos:closeMatch Orphanet:1207 Pulmonary atresia with ventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178370 MONDO:0008344 pulmonary edema of mountaineers, susceptibility to skos:closeMatch OMIM:178400 pulmonary edema of mountaineers, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high altitude pulmonary hypertension MONDO:0008346 pulmonary hemosiderosis skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178550 +MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement -MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008347 idiopathic and/or familial pulmonary arterial hypertension skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch Orphanet:60026 Pulmonary nodular lymphoid hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178610 MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary nodular lymphoid hyperplasia, familial MONDO:0008348 pulmonary nodular lymphoid hyperplasia skos:closeMatch OMIM:178610 pulmonary nodular lymphoid hyperplasia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary nodular lymphoid hyperplasia, familial MONDO:0008349 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities skos:closeMatch OMIM:178650 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciuffo syndrome +MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178995 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066100 MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 -MONDO:0008353 pruritic urticarial papules and plaques of pregnancy skos:closeMatch Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535817 -MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile hypertrophic +MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 skos:closeMatch OMIM:179010 pyloric stenosis, infantile hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyloric stenosis, infantile MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome skos:closeMatch Orphanet:2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179250 -MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179270 MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial ray hypoplasia with choanal atresia MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch OMIM:179270 radial ray hypoplasia with choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial ray hypoplasia with choanal atresia +MONDO:0008358 radial ray hypoplasia-choanal atresia syndrome skos:closeMatch Orphanet:3026 Radial ray hypoplasia-choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179270 MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179280 MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial-renal syndrome MONDO:0008359 radio-renal syndrome skos:closeMatch OMIM:179280 radial-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial-renal syndrome @@ -6677,296 +6683,296 @@ MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syn MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536267 MONDO:0008359 radio-renal syndrome skos:closeMatch Orphanet:3015 Radio-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931146 MONDO:0008364 Raynaud disease skos:closeMatch OMIM:179600 raynaud disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cold fingers, hereditary -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1-qter duplication and type 8pter-p23.1 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179613 MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795822 -MONDO:0008365 recombinant 8 syndrome skos:closeMatch Orphanet:96167 Recombinant 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label recombinant chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008365 recombinant 8 syndrome skos:closeMatch OMIM:179613 recombinant chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1-qter duplication and type 8pter-p23.1 deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008366 red cell permeability defect skos:closeMatch OMIM:179650 red cell permeability defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elliptocytosis with transverse slitlike changes MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leaky red cell syndrome MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylcholine red cell membrane disorder MONDO:0008367 red cell phospholipid defect with hemolysis skos:closeMatch OMIM:179700 red cell phospholipid defect with hemolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high red cell phosphatidylcholine hemolytic anemia MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, distal type, autosomal dominant MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement +MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 MONDO:0008368 autosomal dominant distal renal tubular acidosis skos:closeMatch Orphanet:93608 Autosomal dominant distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179800 +MONDO:0008369 proximal renal tubular acidosis skos:exactMatch NCIT:C123218 Proximal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular acidosis, proximal +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179830 -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037080 -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular acidosis, proximal -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal -MONDO:0008369 proximal renal tubular acidosis skos:exactMatch NCIT:C123218 Proximal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label proximal renal tubular acidosis -MONDO:0008369 proximal renal tubular acidosis skos:closeMatch OMIM:179830 renal tubular acidosis, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008369 proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis type 2 semapv:RegularExpressionReplacement +MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticular pigment anomaly of flexures MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008371 Dowling-Degos disease skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008371 Dowling-Degos disease skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068651 -MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym reticular pigment anomaly of flexures -MONDO:0008372 retinal aplasia skos:closeMatch OMIM:179900 retinal aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita +MONDO:0008371 Dowling-Degos disease skos:exactMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dowling-degos disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008372 retinal aplasia skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179900 +MONDO:0008372 retinal aplasia skos:closeMatch OMIM:179900 retinal aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arteries, tortuosity of MONDO:0008373 retinal arterial tortuosity skos:closeMatch OMIM:180000 retinal arteries, tortuosity of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal arteries, tortuosity of MONDO:0008373 retinal arterial tortuosity skos:closeMatch Orphanet:75326 Retinal arterial tortuosity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180000 MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone degeneration -MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy, autosomal dominant +MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch OMIM:180020 retinal cone dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008374 retinal cone dystrophy type 1 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180020 -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch NCIT:C85045 Retinitis Pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180100 MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa -MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch NCIT:C85045 Retinitis Pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa +MONDO:0008377 retinitis pigmentosa 1 skos:closeMatch OMIM:268000 retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa MONDO:0008378 retinitis pigmentosa 9 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180104 MONDO:0008379 retinitis pigmentosa 10 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180105 -MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinoblastoma MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label retinoblastoma MONDO:0008380 retinoblastoma skos:closeMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rb MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinoblastoma +MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinoblastoma MONDO:0008380 retinoblastoma skos:exactMatch OMIM:180200 retinoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinoblastoma MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012175 -MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038916 -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, dominant -MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, dominant +MONDO:0008380 retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035335 MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180210 +MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, dominant +MONDO:0008381 dominant pericentral pigmentary retinopathy skos:closeMatch OMIM:180210 retinopathy, pericentral pigmentary, dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, dominant +MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008383 rheumatoid arthritis skos:closeMatch OMIM:180300 rheumatoid arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rheumatoid arthritis, susceptibility to -MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement -MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10WHO:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement +MONDO:0008383 rheumatoid arthritis skos:narrowMatch ICD10CM:M06 Other rheumatoid arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym rheumatoid arthritis semapv:RegularExpressionReplacement MONDO:0008385 rhiny skos:closeMatch Orphanet:157832 Craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny -MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniorhiny MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniorhiny +MONDO:0008385 rhiny skos:closeMatch OMIM:123050 craniorhiny semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniorhiny +MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180500 MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:601542 PITX2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rieg MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rieg MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch OMIM:180500 axenfeld-rieger syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rgs -MONDO:0008386 Axenfeld-Rieger syndrome type 1 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180500 +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867155 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535684 -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180550 MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea -MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867155 +MONDO:0008387 ring dermoid of cornea skos:closeMatch Orphanet:91481 Ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180550 MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring dermoid of cornea MONDO:0008387 ring dermoid of cornea skos:closeMatch OMIM:180550 ring dermoid of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring dermoid of cornea +MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 -MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ringed hair -MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ringed hair MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180600 -MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263489 +MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ringed hair +MONDO:0008388 ringed hair disease skos:closeMatch OMIM:180600 ringed hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ringed hair MONDO:0008388 ringed hair disease skos:closeMatch Orphanet:169 Ringed hair disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537187 -MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867147 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180730 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 +MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867147 MONDO:0008390 Rombo syndrome skos:closeMatch Orphanet:3110 Rombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535870 MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch Orphanet:794 Saethre-Chotzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180750 MONDO:0008391 Robinow-Sorauf syndrome skos:closeMatch OMIM:180750 robinow-sorauf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-bifid hallux syndrome -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-lévy syndrome -MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roussy-levy hereditary areflexic dystasia MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-levy hereditary areflexic dystasia +MONDO:0008392 Roussy-Levy syndrome skos:closeMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roussy-levy hereditary areflexic dystasia +MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roussy-lévy syndrome MONDO:0008392 Roussy-Levy syndrome skos:closeMatch Orphanet:3115 Roussy-Lévy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180800 -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumbs and great toes, characteristic facies, and mental retardation MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein syndrome +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumbs and great toes, characteristic facies, and mental retardation MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym broad thumb-hallux syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 -MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180849 -MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 -MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver-russell dwarfism +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations skos:closeMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein syndrome MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175693 +MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062282 MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 -MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome MONDO:0008394 Silver-Russell syndrome skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056730 -MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265248 +MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym russell-silver syndrome +MONDO:0008394 Silver-Russell syndrome skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym silver-russell dwarfism MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180870 -MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180900 +MONDO:0008395 Ruvalcaba syndrome skos:closeMatch Orphanet:3121 Ruvalcaba syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265248 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537732 +MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180900 MONDO:0008396 oculodental syndrome, Rutherfurd type skos:closeMatch Orphanet:2709 Oculodental syndrome, Rutherfurd type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796140 -MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary glands, absence of MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid aplasia or hypoplasia +MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary glands, absence of MONDO:0008397 aplasia of lacrimal and salivary glands skos:closeMatch Orphanet:86815 Aplasia of lacrimal and salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180920 -MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181000 MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid +MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181000 MONDO:0008399 sarcoidosis, susceptibility to, 1 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym boeck sarcoid -MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid duct calculi MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym submandibular duct calculi -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 +MONDO:0008400 salivary duct calculi skos:closeMatch OMIM:181010 salivary duct calculi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid duct calculi +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland adenoma, pleomorphic MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pleomorphic salivary gland adenoma -MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 -MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed tumor of the salivary gland -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland adenoma, pleomorphic +MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:454821 Pleomorphic salivary gland adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgpa MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa -MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label salivary gland adenoma, pleomorphic MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:606793 NPEPPS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psa -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label say syndrome -MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867023 +MONDO:0008401 pleomorphic adenoma skos:closeMatch NCIT:C35691 Mixed Tumor of the Salivary Gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed tumor of the salivary gland +MONDO:0008401 pleomorphic adenoma skos:closeMatch Orphanet:276148 Benign epithelial tumor of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181030 +MONDO:0008401 pleomorphic adenoma skos:closeMatch OMIM:181030 salivary gland adenoma, pleomorphic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salivary gland adenoma, pleomorphic MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym say syndrome +MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867023 +MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label say syndrome MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch Orphanet:2013 Cleft palate-large ears-small head syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181180 MONDO:0008402 cleft palate-large ears-small head syndrome skos:closeMatch OMIM:181180 say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, microcephaly, large ears, and short stature -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 -MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp defects and postaxial polydactyly MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch OMIM:181250 scalp defects and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp defects and postaxial polydactyly +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536622 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181250 +MONDO:0008403 scalp defects-postaxial polydactyly syndrome skos:closeMatch Orphanet:1003 Scalp defects-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867021 MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181270 -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp-ear-nipple syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scalp-ear-nipple syndrome +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scalp-ear-nipple syndrome MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome -MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch Orphanet:2036 Scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536623 -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181400 -MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867005 +MONDO:0008404 scalp-ear-nipple syndrome skos:closeMatch OMIM:181270 scalp-ear-nipple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sen syndrome MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch OMIM:181400 scapuloperoneal syndrome, neurogenic, kaeser iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, neurogenic type, of kaeser +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867005 +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type skos:closeMatch Orphanet:85146 Neurogenic scapuloperoneal syndrome, Kaeser type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181400 MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant skos:closeMatch Orphanet:431255 Scapuloperoneal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181405 MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:437572 MYH7-related late-onset scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181430 MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal muscular dystrophy MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, myh7-related -MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal osteochondrosis MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scheuermann juvenile kyphosis -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866994 -MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181450 +MONDO:0008410 Scheuermann disease skos:closeMatch OMIM:181440 scheuermann disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal osteochondrosis MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 +MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866994 MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536937 -MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to -MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by +MONDO:0008411 ulnar-mammary syndrome skos:closeMatch Orphanet:3138 Ulnar-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181450 MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to -MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by +MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 1 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181600 -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome -MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scleroatrophic and keratotic dermatosis of limbs +MONDO:0008414 schizophrenia 1 skos:closeMatch OMIM:181510 schizophrenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huriez syndrome +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch OMIM:181600 huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scleroatrophic and keratotic dermatosis of limbs +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181600 +MONDO:0008416 palmoplantar keratoderma-sclerodactyly syndrome skos:closeMatch Orphanet:384 Huriez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label huriez syndrome MONDO:0008417 sclerocornea, autosomal dominant skos:closeMatch Orphanet:91490 Isolated congenital sclerocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181700 -MONDO:0008418 scleroderma, familial progressive skos:closeMatch NCIT:C70646 CREST Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crest syndrome -MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic sclerosis, susceptibility to -MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crest syndrome MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:90291 Systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 +MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crest syndrome +MONDO:0008418 scleroderma, familial progressive skos:closeMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic sclerosis, susceptibility to MONDO:0008418 scleroderma, familial progressive skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181750 +MONDO:0008418 scleroderma, familial progressive skos:closeMatch NCIT:C70646 CREST Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crest syndrome MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent isolated scoliosis MONDO:0008419 scoliosis, isolated, susceptibility to, 1 skos:closeMatch OMIM:181800 scoliosis, isolated, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adolescent idiopathic scoliosis MONDO:0008420 seborrheic keratosis skos:narrowMatch ICD10CM:L82.1 Other seborrheic keratosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym seborrheic keratosis semapv:RegularExpressionReplacement -MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, seborrheic MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis, seborrheic +MONDO:0008420 seborrheic keratosis skos:closeMatch OMIM:182000 keratosis, seborrheic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis, seborrheic +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182150 -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label simosa craniofacial syndrome MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym simosa craniofacial syndrome -MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866962 +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch OMIM:182150 simosa craniofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label simosa craniofacial syndrome +MONDO:0008421 flat face-microstomia-ear anomaly syndrome skos:closeMatch Orphanet:1968 Flat face-microstomia-ear anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182150 MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182170 -MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008422 autosomal dominant sideroblastic anemia skos:closeMatch OMIM:182170 anemia, sideroblastic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008423 sinus node disease and myopia skos:closeMatch OMIM:182190 sinus node disease and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sss-myopia syndrome MONDO:0008423 sinus node disease and myopia skos:closeMatch OMIM:182190 sinus node disease and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome and myopia MONDO:0008423 sinus node disease and myopia skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182190 -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen omphalocele syndrome MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen omphalocele syndrome +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen omphalocele syndrome MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pharynx and larynx hypoplasia with omphalocele +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch OMIM:182210 shprintzen omphalocele syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866958 MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type skos:closeMatch Orphanet:3164 Omphalocele syndrome, Shprintzen-Goldberg type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182210 -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen-goldberg craniosynostosis syndrome +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with arachnodactyly and abdominal hernias MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182212 +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen-goldberg craniosynostosis syndrome MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321551 -MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch NCIT:C124840 Shprintzen-Goldberg Craniosynostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shprintzen-goldberg craniosynostosis syndrome +MONDO:0008426 Shprintzen-Goldberg syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182212 MONDO:0008427 sister chromatid exchange, frequency of skos:closeMatch OMIM:182220 sister chromatid exchange, frequency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sce, frequency of +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338503 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067159 -MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with pituitary anomalies -MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label septo-optic dysplasia spectrum -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338503 +MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 +MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with pituitary anomalies MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182230 MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 -MONDO:0008428 septooptic dysplasia skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d025962 +MONDO:0008428 septooptic dysplasia skos:closeMatch OMIM:182230 septooptic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008429 Singleton-Merten dysplasia skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432254 MONDO:0008431 slipped femoral capital epiphyses skos:closeMatch OMIM:182260 slipped femoral capital epiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphysiolysis capitis femoris +MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182280 MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label small cell cancer of the lung MONDO:0008433 small cell lung carcinoma skos:closeMatch OMIM:182280 small cell cancer of the lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym small cell cancer of the lung -MONDO:0008433 small cell lung carcinoma skos:closeMatch Orphanet:70573 Small cell lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182280 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795864 -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182290 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome chromosome region -MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch OMIM:182290 smith-magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-magenis syndrome chromosome region +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182290 +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795864 +MONDO:0008434 Smith-Magenis syndrome skos:closeMatch Orphanet:819 Smith-Magenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058496 MONDO:0008434 Smith-Magenis syndrome skos:closeMatch NCIT:C75469 Smith-Magenis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-magenis syndrome +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053841 +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282492 MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182410 MONDO:0008436 Sneddon syndrome skos:closeMatch OMIM:182410 sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis and cerebrovascular accidents -MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282492 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 +MONDO:0008436 Sneddon syndrome skos:closeMatch Orphanet:820 Sneddon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018860 MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182600 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg3 -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:100984 Autosomal dominant spastic paraplegia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536864 MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strumpell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch OMIM:182600 spastic paraplegia 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spg3 MONDO:0008437 hereditary spastic paraplegia 3A skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931355 +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch NCIT:C129981 Spastic Paraplegia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866855 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182601 MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch Orphanet:100985 Autosomal dominant spastic paraplegia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536865 -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch NCIT:C129981 Spastic Paraplegia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008438 hereditary spastic paraplegia 4 skos:closeMatch OMIM:182601 spastic paraplegia 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, epilepsy, and mental retardation MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spemr MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, epilepsy, and mental retardation -MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome skos:closeMatch OMIM:182610 spastic paraplegia, epilepsy, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, epilepsy, and mental retardation -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy -MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182690 MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931667 -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866851 -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182815 -MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch Orphanet:2820 Spastic paraplegia-nephritis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182690 +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy +MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome skos:closeMatch OMIM:182690 spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with neuropathy and poikiloderma +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866851 MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch OMIM:182815 spastic paraplegia with neuropathy and poikiloderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with neuropathy and poikiloderma MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536870 +MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome skos:closeMatch Orphanet:2821 Spastic paraplegia-neuropathy-poikiloderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182815 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with precocious puberty +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty with spastic paraplegia +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with precocious puberty MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866850 +MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182820 MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536874 -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch Orphanet:2826 Spastic paraplegia-precocious puberty syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182820 -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia with precocious puberty -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia with precocious puberty -MONDO:0008443 spastic paraplegia-precocious puberty syndrome skos:closeMatch OMIM:182820 spastic paraplegia with precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious puberty with spastic paraplegia -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931119 -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182875 -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch OMIM:182875 speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182875 +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome skos:closeMatch Orphanet:3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931119 MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch OMIM:182900 spherocytosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sph MONDO:0008447 hereditary spherocytosis type 1 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182900 -MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182920 MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866785 +MONDO:0008448 spheroid body myopathy skos:closeMatch Orphanet:268129 Spheroid body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182920 MONDO:0008448 spheroid body myopathy skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, spheroid body -MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to MONDO:0008449 spina bifida skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 -MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida +MONDO:0008449 spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016135 MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spina bifida +MONDO:0008449 spina bifida skos:exactMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spina bifida MONDO:0008449 spina bifida skos:exactMatch NCIT:C101209 Spinal Meningocele semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinal meningocele MONDO:0008450 spinal arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182950 MONDO:0008451 neuronopathy, distal hereditary motor, type 1 skos:closeMatch Orphanet:139518 Distal hereditary motor neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866784 @@ -6981,99 +6987,99 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant s MONDO:0008454 spinal intradural arachnoid cysts skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182990 MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch OMIM:183086 spinocerebellar ataxia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752124 MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch Orphanet:98758 Spinocerebellar ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183086 -MONDO:0008457 spinocerebellar ataxia type 6 skos:closeMatch NCIT:C142838 Spinocerebellar Ataxia Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 6 semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wadia-swami syndrome +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with slow eye movements +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:271322 spinocerebellar degeneration with slow eye movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183090 -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar atrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch Orphanet:98756 Spinocerebellar ataxia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752121 -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch NCIT:C148315 Spinocerebellar Ataxia Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wadia-swami syndrome -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar degeneration with slow eye movements -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label splenogonadal fusion with limb defects and micrognathia +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008458 spinocerebellar ataxia type 2 skos:closeMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion limb defect syndrome MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion with limb defects and micrognathia -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866745 MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183300 -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866745 -MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenogonadal fusion limb defect syndrome -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183600 -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75000 Ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch Orphanet:2063 Splenogonadal fusion-limb defects-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgfld syndrome +MONDO:0008460 splenogonadal fusion-limb defects-micrognathia syndrome skos:closeMatch OMIM:183300 splenogonadal fusion with limb defects and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label splenogonadal fusion with limb defects and micrognathia MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with or without deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand deformity -MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with or without deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand deformity MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75045 Split-Hand/Foot Malformation Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 semapv:RegularExpressionReplacement -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-foot deformity with mandibulofacial dysostosis -MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-foot deformity with mandibulofacial dysostosis +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183600 +MONDO:0008464 split hand-foot malformation 1 skos:closeMatch NCIT:C75000 Ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866741 MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch Orphanet:2439 Patterson-Stevenson-Fontaine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183700 -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183800 +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-foot deformity with mandibulofacial dysostosis +MONDO:0008465 Patterson-Stevenson-Fontaine syndrome skos:closeMatch OMIM:183700 split-foot deformity with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-foot deformity with mandibulofacial dysostosis +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus-split hand syndrome +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with congenital nystagmus, fundal changes, and cataracts +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with congenital nystagmus, fundal changes, and cataracts MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537319 MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866740 -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with congenital nystagmus, fundal changes, and cataracts -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with congenital nystagmus, fundal changes, and cataracts -MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus-split hand syndrome +MONDO:0008466 Karsch-Neugebauer syndrome skos:closeMatch Orphanet:2329 Karsch-Neugebauer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183800 MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183802 MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch Orphanet:2437 Czeizel-Losonci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866739 -MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects +MONDO:0008467 Czeizel-Losonci syndrome skos:closeMatch OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183849 -MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866728 +MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535783 MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with hypotrichosis MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with hypotrichosis MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome skos:closeMatch OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whyte syndrome -MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183900 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535788 +MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:183900 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital spondyloepiphyseal dysplasia MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 MONDO:0008471 spondyloepiphyseal dysplasia congenita skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184000 -MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, myopia, and sensorineural deafness MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia, myopia, and sensorineural deafness +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866719 +MONDO:0008472 spondyloepiphyseal dysplasia, MacDermot type skos:closeMatch Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184000 MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type skos:closeMatch Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184095 MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dappled metaphysis syndrome -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdc +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia congenita, strudwick type -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semdc MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strudwick syndrome -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:254 Spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dappled metaphysis syndrome +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184250 +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type skos:closeMatch Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia congenita, strudwick type MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184252 MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type skos:closeMatch Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535797 MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432221 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 -MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010455 MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184400 +MONDO:0008482 Sprengel deformity skos:closeMatch Orphanet:3181 Sprengel deformity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535802 MONDO:0008483 stuttering, familial persistent, 1 skos:closeMatch OMIM:184450 stuttering, familial persistent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stammering -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184460 -MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866656 MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stapes ankylosis syndrome without symphalangism MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch OMIM:184460 stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly +MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866656 +MONDO:0008484 stapes ankylosis with broad thumbs and toes skos:closeMatch Orphanet:140917 Stapes ankylosis with broad thumbs and toes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184460 MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3671377 MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184500 MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex @@ -7081,50 +7087,50 @@ MONDO:0008485 sebocystomatosis skos:closeMatch Orphanet:841 Sebocystomatosis sem MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sebaceous cysts, multiple MONDO:0008485 sebocystomatosis skos:closeMatch OMIM:184500 steatocystoma multiplex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184510 -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866650 -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex with natal teeth -MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex with natal teeth MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537487 +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatocystoma multiplex with natal teeth +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch OMIM:184510 steatocystoma multiplex with natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steatocystoma multiplex with natal teeth +MONDO:0008486 steatocystoma multiplex-natal teeth syndrome skos:closeMatch Orphanet:3184 Steatocystoma multiplex-natal teeth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184510 MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic ovary syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pco1 MONDO:0008487 polycystic ovary syndrome skos:closeMatch OMIM:184700 polycystic ovary syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenemia -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866649 +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184705 +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch Orphanet:3186 Holoprosencephaly-radial heart renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steinfeld syndrome MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome skos:closeMatch OMIM:184705 steinfeld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label steinfeld syndrome MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 -MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184840 +MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:166100 Autosomal dominant otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537494 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff-person syndrome MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-person syndrome -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-man syndrome -MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalomyelitis with rigidity MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff-trunk syndrome +MONDO:0008491 stiff-person syndrome skos:closeMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalomyelitis with rigidity MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042044 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443192 Classic stiff person syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 -MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:443804 Focal stiff limb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184850 +MONDO:0008491 stiff-person syndrome skos:closeMatch Orphanet:3198 Stiff person spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085292 MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome +MONDO:0008492 stiff skin syndrome skos:closeMatch NCIT:C118636 Stiff Skin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184900 -MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861456 MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome -MONDO:0008492 stiff skin syndrome skos:closeMatch NCIT:C118636 Stiff Skin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stiff skin syndrome MONDO:0008492 stiff skin syndrome skos:closeMatch OMIM:184900 stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stiff skin syndrome -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185000 -MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overhydrated hereditary stomatocytosis +MONDO:0008492 stiff skin syndrome skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861456 MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium-sodium disorder of erythrocyte +MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overhydrated hereditary stomatocytosis MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch OMIM:185000 overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis +MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185000 +MONDO:0008493 overhydrated hereditary stomatocytosis skos:closeMatch Orphanet:3203 Overhydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label overhydrated hereditary stomatocytosis MONDO:0008494 cryohydrocytosis skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia cardiff MONDO:0008494 cryohydrocytosis skos:closeMatch Orphanet:398088 Hereditary cryohydrocytosis with normal stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185020 -MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha delta granule deficiency MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185050 +MONDO:0008495 platelet storage pool deficiency skos:closeMatch Orphanet:734 Alpha delta granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha delta granule deficiency MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008495 platelet storage pool deficiency skos:closeMatch OMIM:185050 storage pool platelet disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label storage pool platelet disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaastad-Langslet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185070 @@ -7133,236 +7139,236 @@ MONDO:0008497 Stormorken syndrome skos:closeMatch Orphanet:3204 Stormorken-Sjaas MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy, asplenia, and miosis MONDO:0008497 Stormorken syndrome skos:closeMatch OMIM:185070 stormorken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym york platelet syndrome MONDO:0008498 strabismus, susceptibility to skos:closeMatch OMIM:185100 strabismus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strabismus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stratton-parker syndrome -MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185120 MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch Orphanet:2863 Short stature-wormian bones-dextrocardia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861448 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185300 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sturge-weber syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stratton-parker syndrome +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stratton-parker syndrome +MONDO:0008499 short stature-wormian bones-dextrocardia syndrome skos:closeMatch OMIM:185120 stratton-parker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency with wormian bones, cardiac anomaly, and brachycamptodactyly MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 -MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042265 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057653 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185300 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch OMIM:185300 sturge-weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sturge-weber syndrome +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0008501 Sturge-Weber syndrome skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013341 MONDO:0008501 Sturge-Weber syndrome skos:closeMatch NCIT:C3391 Sturge-Weber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sturge-weber syndrome -MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 +MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suprabulbar paresis, congenital +MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suprabulbar paresis, congenital MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536747 +MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796204 MONDO:0008503 Worster-Drought syndrome skos:closeMatch Orphanet:3465 Worster-Drought syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185480 -MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suprabulbar paresis, congenital -MONDO:0008503 Worster-Drought syndrome skos:closeMatch OMIM:185480 suprabulbar paresis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label suprabulbar paresis, congenital -MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003499 MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042598 MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185500 +MONDO:0008504 supravalvular aortic stenosis skos:closeMatch Orphanet:3193 Supravalvular aortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003499 MONDO:0008505 surface antigen, glycoprotein 75 skos:closeMatch OMIM:185540 surface antigen, glycoprotein 75 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surface glycoprotein type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa2 MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa5 +MONDO:0008507 surface polypeptides, anonymous skos:closeMatch OMIM:185610 surface polypeptides, anonymous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spa2 MONDO:0008508 symphalangism, C. S. Lewis type skos:closeMatch OMIM:185650 symphalangism, c. s. lewis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs, stiff MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym2 -MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, distal MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, distal -MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185700 +MONDO:0008509 distal symphalangism skos:closeMatch OMIM:185700 symphalangism, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, distal MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861401 -MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861391 +MONDO:0008509 distal symphalangism skos:closeMatch Orphanet:3248 Distal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185700 MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185750 -MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861385 +MONDO:0008510 symphalangism with multiple anomalies of hands and feet skos:closeMatch Orphanet:3246 Symphalangism with multiple anomalies of hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861391 MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 -MONDO:0008511 proximal symphalangism skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536223 -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861380 -MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 +MONDO:0008511 proximal symphalangism skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints +MONDO:0008511 proximal symphalangism skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861385 MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 -MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185900 +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:1527 Craniosynostosis, Philadelphia type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, philadelphia type MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd1 +MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008512 syndactyly type 1 skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008512 syndactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861380 +MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186000 +MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008513 synpolydactyly type 1 skos:closeMatch OMIM:186000 synpolydactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 1 semapv:RegularExpressionReplacement -MONDO:0008513 synpolydactyly type 1 skos:closeMatch Orphanet:295195 Synpolydactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186000 -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861366 -MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdty3 MONDO:0008514 syndactyly type 3 skos:closeMatch OMIM:186100 syndactyly, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring and little finger syndactyly -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861355 -MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186100 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538154 +MONDO:0008514 syndactyly type 3 skos:closeMatch Orphanet:93404 Syndactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861366 MONDO:0008515 syndactyly type 4 skos:closeMatch OMIM:186200 syndactyly, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sd4 +MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186200 +MONDO:0008515 syndactyly type 4 skos:closeMatch Orphanet:93405 Syndactyly type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861355 +MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538155 -MONDO:0008516 syndactyly type 5 skos:closeMatch Orphanet:93406 Syndactyly type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186300 MONDO:0008516 syndactyly type 5 skos:closeMatch OMIM:186300 syndactyly, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with metacarpal and metatarsal fusion -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186350 MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861347 -MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly-polydactyly-earlobe syndrome +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch Orphanet:3259 Syndactyly-polydactyly-ear lobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186350 MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spel syndrome +MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly-polydactyly-earlobe syndrome MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome skos:closeMatch OMIM:186350 syndactyly-polydactyly-earlobe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly-polydactyly-earlobe syndrome -MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synostoses, tarsal, carpal, and digital MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, tarsal, carpal, and digital +MONDO:0008518 calcaneonavicular coalition skos:closeMatch OMIM:186400 synostoses, tarsal, carpal, and digital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synostoses, tarsal, carpal, and digital MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 MONDO:0008518 calcaneonavicular coalition skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186400 -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioaudiosymphalangism syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, multiple, with brachydactyly -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-symphalangism syndrome of herrmann -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3168 Sillence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342282 -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis, carpal, with dysplastic elbow joints and brachydactyly +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wl syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-symphalangism syndrome of herrmann +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioaudiosymphalangism syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome +MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostoses, multiple, with brachydactyly +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186550 MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liebenberg syndrome -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis, carpal, with dysplastic elbow joints and brachydactyly MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186550 -MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861305 -MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186570 +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch OMIM:186550 liebenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with joint dysplasia +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome skos:closeMatch Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liebenberg syndrome MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch OMIM:186570 tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synostosis of talus and calcaneus with short stature -MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071755 +MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186570 +MONDO:0008521 tarsal-carpal coalition syndrome skos:closeMatch Orphanet:1412 Tarsal-carpal coalition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861305 MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861303 +MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071755 MONDO:0008523 Blau syndrome skos:closeMatch Orphanet:90340 Blau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186580 +MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186700 MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syringomyelia, noncommunicating isolated MONDO:0008525 syringomyelia, isolated skos:closeMatch OMIM:186700 syringomyelia, noncommunicating isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syringomyelia, noncommunicating isolated -MONDO:0008525 syringomyelia, isolated skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186700 MONDO:0008527 tarsal coalition skos:closeMatch OMIM:186850 tarsal coalition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tarsal fusion -MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobodontia MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conical teeth, multiple -MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natal teeth +MONDO:0008530 teeth, odd shapes of skos:closeMatch OMIM:187000 teeth, odd shapes of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobodontia MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth present at birth MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth present at birth +MONDO:0008532 teeth present at birth skos:closeMatch OMIM:187050 teeth present at birth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natal teeth MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, generalized essential MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbt MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label telangiectasia, hereditary benign MONDO:0008534 generalized essential telangiectasia skos:closeMatch Orphanet:280774 Generalized essential telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473555 MONDO:0008534 generalized essential telangiectasia skos:closeMatch OMIM:187260 telangiectasia, hereditary benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary benign MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber -MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orw disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osler-rendu-weber disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch OMIM:187300 telangiectasia, hereditary hemorrhagic, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orw disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187300 -MONDO:0008538 temporal arteritis skos:narrowMatch ICD10CM:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranial arteritis -MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymyalgia rheumatica -MONDO:0008538 temporal arteritis skos:narrowMatch ICD10WHO:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956391 -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018250 MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043207 +MONDO:0008538 temporal arteritis skos:closeMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymyalgia rheumatica MONDO:0008538 temporal arteritis skos:closeMatch NCIT:C85018 Polymyalgia Rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187360 -MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018250 -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tendons, extensor, of fingers, anomalous insertion of -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendons, extensor, of fingers, anomalous insertion of -MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187390 +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymyalgia rheumatica +MONDO:0008538 temporal arteritis skos:closeMatch Orphanet:397 Giant cell arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956391 +MONDO:0008538 temporal arteritis skos:narrowMatch ICD10WHO:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement +MONDO:0008538 temporal arteritis skos:narrowMatch ICD10CM:M31.6 Other giant cell arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym giant cell arteritis semapv:RegularExpressionReplacement MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931376 +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch Orphanet:3294 Extensor tendons of finger anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187390 +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendons, extensor, of fingers, anomalous insertion of +MONDO:0008540 extensor tendons of finger anomalies skos:closeMatch OMIM:187390 tendons, extensor, of fingers, anomalous insertion of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tendons, extensor, of fingers, anomalous insertion of MONDO:0008541 spermatic cord torsion skos:closeMatch OMIM:187400 testicular torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion of testicular cord -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187500 -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016193 -MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039685 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 +MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013771 MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetralogy of fallot -MONDO:0008542 tetralogy of fallot skos:closeMatch OMIM:187500 tetralogy of fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016193 +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039685 MONDO:0008542 tetralogy of fallot skos:closeMatch NCIT:C84505 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tetralogy of fallot +MONDO:0008542 tetralogy of fallot skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187500 MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861233 MONDO:0008544 tetramelic monodactyly skos:closeMatch Orphanet:2564 Tetramelic monodactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187510 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868678 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 -MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism type 1 semapv:RegularExpressionReplacement MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch NCIT:C85187 Thanatophoric Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thanatophoric dysplasia -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull with thanatophoric dwarfism -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with kleeblattschaedel -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with straight femurs and cloverleaf skull -MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300257 +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187600 +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868678 +MONDO:0008546 thanatophoric dysplasia type 1 skos:closeMatch Orphanet:1860 Thanatophoric dysplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dwarfism type 1 semapv:RegularExpressionReplacement MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:93274 Thanatophoric dysplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300257 MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187601 +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with kleeblattschaedel +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thanatophoric dysplasia with straight femurs and cloverleaf skull +MONDO:0008547 thanatophoric dysplasia type 2 skos:closeMatch OMIM:187601 thanatophoric dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cloverleaf skull with thanatophoric dwarfism MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187760 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861197 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracopelvic dysostosis +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracopelvic dysostosis +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861197 +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187770 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536517 -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracolaryngopelvic dysplasia -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracopelvic dysostosis -MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187770 thoracopelvic dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracopelvic dysostosis MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch OMIM:187760 thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracolaryngopelvic dysplasia +MONDO:0008551 thoracolaryngopelvic dysplasia skos:closeMatch Orphanet:3317 Thoracolaryngopelvic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracolaryngopelvic dysplasia MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187800 +MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008552 platelet-type bleeding disorder 16 skos:closeMatch OMIM:187800 bleeding disorder, platelet-type, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch Orphanet:721 Gray platelet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187900 +MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008553 platelet-type bleeding disorder 17 skos:closeMatch OMIM:187900 bleeding disorder, platelet-type, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombasthenia-thrombocytopenia, hereditary -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 -MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 MONDO:0008554 thrombocythemia 1 skos:closeMatch OMIM:187950 thrombocythemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008555 thrombocytopenia 2 skos:closeMatch OMIM:188000 thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 +MONDO:0008554 thrombocythemia 1 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187950 MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 +MONDO:0008555 thrombocytopenia 2 skos:closeMatch OMIM:188000 thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008555 thrombocytopenia 2 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188000 -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956093 -MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861178 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188025 +MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861178 +MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956093 MONDO:0008557 Paris-Trousseau thrombocytopenia skos:closeMatch OMIM:188025 thrombocytopenia, paris-trousseau iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021245 +MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188030 MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch Orphanet:3002 Immune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura MONDO:0008558 autoimmune thrombocytopenic purpura skos:closeMatch OMIM:188030 thrombocytopenic purpura, autoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune thrombocytopenic purpura -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombosis, protection against -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous thrombosis -MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch NCIT:C99107 Venous Thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous thrombosis +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 2 defect semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous thrombosis +MONDO:0008559 thrombophilia due to thrombin defect skos:closeMatch OMIM:188050 thrombophilia due to thrombin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombosis, protection against MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to activated protein c resistance MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to activated protein c resistance +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency +MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to factor type 5 leiden semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to deficiency of activated protein c cofactor MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pccf deficiency -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc cofactor deficiency MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated protein c resistance -MONDO:0008560 thrombophilia due to activated protein C resistance skos:closeMatch OMIM:188055 thrombophilia due to activated protein c resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apc resistance -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931366 -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188150 -MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb deformity and alopecia MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb deformity and alopecia +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch OMIM:188150 thumb deformity and alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb deformity and alopecia +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188150 +MONDO:0008562 thumb deformity-alopecia-pigmentation anomaly syndrome skos:closeMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931366 MONDO:0008563 thumb stiffness-brachydactyly-intellectual disability syndrome skos:closeMatch Orphanet:1078 Thumb stiffness-brachydactyly-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188201 -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoplasia of thymus and parathyroids -MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q11.2 deletion syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym third and fourth pharyngeal pouch syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shprintzen syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoplasia of thymus and parathyroids MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catch22 +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym third and fourth pharyngeal pouch syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome chromosome region +MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takao vcf syndrome MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digeorge syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188400 +MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 22q11.2 deletion syndrome MONDO:0008564 DiGeorge syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digeorge syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome chromosome region -MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takao vcf syndrome -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188455 -MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495590 +MONDO:0008564 DiGeorge syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroglossal duct cyst, familial MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch OMIM:188455 thyroglossal duct cyst, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroglossal duct cyst, familial +MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495590 +MONDO:0008565 familial thyroglossal duct cyst skos:closeMatch Orphanet:93953 Familial thyroglossal duct cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188455 MONDO:0008566 thyroid cancer, nonmedullary, 2 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188470 -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonmedullary thyroid carcinoma, papillary -MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of thyroid MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial nonmedullary thyroid cancer, papillary +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillary carcinoma of thyroid +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 +MONDO:0008567 thyroid cancer, nonmedullary, 1 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188550 MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone resistance due to t4 plasma membrane transport defect MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, eumetabolic, due to t4 plasma membrane transport MONDO:0008568 thyroid hormone plasma membrane transport defect skos:closeMatch OMIM:188560 thyroid hormone plasma membrane transport defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect @@ -7378,268 +7384,268 @@ MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disea MONDO:0008571 Blount disease, infantile skos:closeMatch OMIM:188700 blount disease, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, infantile MONDO:0008571 Blount disease, infantile skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188700 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188740 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535564 MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861099 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:188740 -MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch Orphanet:988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly skos:closeMatch OMIM:188740 tibia, hypoplasia or aplasia of, with polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia MONDO:0008575 nicotine dependence skos:closeMatch NCIT:C35074 Tobacco Use Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tobacco use disorder MONDO:0008581 malposition of teeth with or without hypodontia/oligodontia skos:closeMatch OMIM:189490 malposition of teeth with or without hypodontia/oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopic eruption of teeth MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189500 MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypodontia-dysplasia of nails syndrome -MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406735 -MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth-and-nail syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch Orphanet:2228 Hypodontia-dysplasia of nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia with hypodontia -MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witkop syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth-and-nail syndrome MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witkop syndrome +MONDO:0008582 tooth and nail syndrome skos:closeMatch OMIM:189500 witkop syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witkop syndrome MONDO:0008583 inherited torticollis skos:exactMatch NCIT:C182201 Torticollis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label torticollis -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162739 -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxemia of pregnancy +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preg1 MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxemia of pregnancy +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count +MONDO:0008585 HELLP syndrome skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced +MONDO:0008585 HELLP syndrome skos:closeMatch NCIT:C34943 Toxemia of Pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toxemia of pregnancy MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 -MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049058 MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017359 -MONDO:0008585 HELLP syndrome skos:closeMatch NCIT:C34943 Toxemia of Pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toxemia of pregnancy -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula with or without esophageal atresia -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheoesophageal fistula with or without esophageal atresia -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal atresia with or without tracheoesophageal fistula +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049058 +MONDO:0008585 HELLP syndrome skos:closeMatch Orphanet:244242 HELLP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162739 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021530 MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004933 -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021530 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030146 MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189960 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophageal atresia with or without tracheoesophageal fistula +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheoesophageal fistula with or without esophageal atresia MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch NCIT:C35080 Tracheoesophageal Fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula -MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch Orphanet:1199 Esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030146 +MONDO:0008586 esophageal atresia/tracheoesophageal fistula skos:closeMatch OMIM:189960 tracheoesophageal fistula with or without esophageal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheoesophageal fistula with or without esophageal atresia MONDO:0008587 tracheobronchopathia osteochondroplastica skos:closeMatch Orphanet:3348 Tracheobronchopathia osteochondroplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189961 -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 -MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931589 +MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190100 -MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008588 hereditary geniospasm skos:closeMatch Orphanet:53372 Hereditary geniospasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537682 MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trembling chin +MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008588 hereditary geniospasm skos:closeMatch OMIM:190100 geniospasm 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geniospasm type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008590 tremor, hereditary essential, 1 skos:closeMatch OMIM:190300 tremor, hereditary essential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, familial essential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860860 MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190310 -MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tremor, nystagmus, and duodenal ulcer +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch Orphanet:3350 Tremor-nystagmus-duodenal ulcer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860860 MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tremor, nystagmus, and duodenal ulcer -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodentoosseous syndrome +MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome skos:closeMatch OMIM:190310 tremor, nystagmus, and duodenal ulcer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tremor, nystagmus, and duodenal ulcer MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 -MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190320 MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536549 +MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch Orphanet:3352 Tricho-dento-osseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190320 +MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodentoosseous syndrome MONDO:0008592 tricho-dento-osseous syndrome skos:closeMatch OMIM:190320 trichodentoosseous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodentoosseous syndrome -MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190330 MONDO:0008593 trichomegaly skos:closeMatch OMIM:190330 trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, long -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodiscomas, familial multiple -MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190340 +MONDO:0008593 trichomegaly skos:closeMatch Orphanet:411788 Familial isolated trichomegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190330 MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym discoid fibromas, familial multiple +MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190340 MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label discoid fibromas, familial multiple +MONDO:0008594 familial multiple discoid fibromas skos:closeMatch OMIM:190340 discoid fibromas, familial multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodiscomas, familial multiple MONDO:0008594 familial multiple discoid fibromas skos:closeMatch Orphanet:538756 Familial multiple discoid fibromas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple trichodiscomas -MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sugio-kajii syndrome MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch OMIM:190350 trichorhinophalangeal syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008596 trichorhinophalangeal syndrome type I skos:exactMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sugio-kajii syndrome MONDO:0008596 trichorhinophalangeal syndrome type I skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190350 MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch OMIM:190351 trichorhinophalangeal syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sugio-kajii syndrome MONDO:0008597 trichorhinophalangeal syndrome, type III skos:closeMatch Orphanet:77258 Trichorhinophalangeal syndrome type 1 and 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190351 -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodysplasia-xeroderma MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodysplasia-xeroderma -MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 +MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch OMIM:190360 trichodysplasia-xeroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodysplasia-xeroderma MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860822 -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040997 -MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044652 +MONDO:0008598 trichodysplasia-xeroderma syndrome skos:closeMatch Orphanet:3361 Trichodysplasia-xeroderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190360 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014277 +MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040997 MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190400 +MONDO:0008599 trigeminal neuralgia skos:closeMatch Orphanet:221091 Trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044652 MONDO:0008599 trigeminal neuralgia skos:closeMatch OMIM:190400 trigeminal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tic douloureux -MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190440 MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic +MONDO:0008603 trigonocephaly 1 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190440 MONDO:0008603 trigonocephaly 1 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs and dislocation of patella MONDO:0008606 Say-field-Coldwell syndrome skos:closeMatch OMIM:190650 triphalangeal thumbs and dislocation of patella semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs and dislocation of patella -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs with brachyectrodactyly -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs with brachyectrodactyly +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860804 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536564 MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190680 -MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860804 -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient myeloproliferative disorder of down syndrome +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triphalangeal thumbs with brachyectrodactyly +MONDO:0008607 triphalangeal thumbs-brachyectrodactyly syndrome skos:closeMatch OMIM:190680 triphalangeal thumbs with brachyectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triphalangeal thumbs with brachyectrodactyly MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 +MONDO:0008608 Down syndrome skos:closeMatch NCIT:C101222 Complete Trisomy 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label complete trisomy type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004314 -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190685 -MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013080 MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044688 -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, megakaryoblastic, of down syndrome +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190685 +MONDO:0008608 Down syndrome skos:closeMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome critical region -MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008608 Down syndrome skos:closeMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008608 Down syndrome skos:closeMatch NCIT:C101222 Complete Trisomy 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label complete trisomy type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym down syndrome chromosome region +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, megakaryoblastic, of down syndrome +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transient myeloproliferative disorder of down syndrome +MONDO:0008608 Down syndrome skos:closeMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008608 Down syndrome skos:closeMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008609 Tristichiasis skos:closeMatch OMIM:190800 tristichiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, three rows of +MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritanopic MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritan MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blue colorblindness -MONDO:0008610 blue color blindness skos:closeMatch OMIM:190900 tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, tritanopic MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:190900 MONDO:0008610 blue color blindness skos:closeMatch Orphanet:88629 Tritanopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155017 -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191000 -MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860773 MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trochlea of the humerus, aplasia of MONDO:0008611 humerus trochlea aplasia skos:closeMatch OMIM:191000 trochlea of the humerus, aplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trochlea of the humerus, aplasia of +MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191000 +MONDO:0008611 humerus trochlea aplasia skos:closeMatch Orphanet:3383 Humerus trochlea aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860773 MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tuberous sclerosis complex MONDO:0008612 tuberous sclerosis 1 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191100 -MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberose sclerosis MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberous sclerosis complex -MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch NCIT:C9039 Cervical Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical carcinoma +MONDO:0008612 tuberous sclerosis 1 skos:closeMatch OMIM:191100 tuberous sclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tuberose sclerosis MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch OMIM:191181 suppressor of tumorigenicity 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical carcinoma, tumor-suppressor gene involved type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008614 suppressor of tumorigenicity 3 skos:closeMatch NCIT:C9039 Cervical Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical carcinoma MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysmelodia -MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tone deafness MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amusia, congenital +MONDO:0008615 tune deafness skos:closeMatch OMIM:191200 tune deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tone deafness +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860616 +MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191400 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537349 -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191400 -MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch Orphanet:2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860616 MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, hypoplasia of MONDO:0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type skos:closeMatch OMIM:191400 ulna and fibula, hypoplasia of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, hypoplasia of +MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191420 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536935 -MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191420 MONDO:0008619 ulna metaphyseal dysplasia syndrome skos:closeMatch Orphanet:1837 Ulna metaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860615 -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191440 -MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna hypoplasia MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch OMIM:191440 ulnar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia +MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191440 +MONDO:0008620 upper limb mesomelic dysplasia skos:closeMatch Orphanet:2497 Upper limb mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna hypoplasia +MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uncombable hair syndrome MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pili trianguli et canaliculi -MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uncombable hair syndrome -MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432347 -MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uncombable hair syndrome -MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly +MONDO:0008621 uncombable hair syndrome skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536939 +MONDO:0008621 uncombable hair syndrome skos:exactMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym uncombable hair syndrome MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly +MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch OMIM:191482 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860605 MONDO:0008622 tricho-retino-dento-digital syndrome skos:closeMatch Orphanet:1264 Tricho-retino-dento-digital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191482 MONDO:0008623 Undritz anomaly skos:closeMatch OMIM:191500 undritz anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersegmentation of nuclei of polymorphonuclear leukocytes -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860596 -MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191520 +MONDO:0008624 Upington disease skos:closeMatch OMIM:191520 upington disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perthes-like hip disorder, enchondromata, and ecchondromata semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 +MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860596 MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536472 -MONDO:0008624 Upington disease skos:closeMatch OMIM:191520 upington disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perthes-like hip disorder, enchondromata, and ecchondromata semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ureter, cancer of +MONDO:0008624 Upington disease skos:closeMatch Orphanet:3408 Upington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191520 MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureter, cancer of +MONDO:0008627 ureter cancer skos:closeMatch OMIM:191600 ureter, cancer of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ureter, cancer of MONDO:0008629 urolithiasis, uric acid, autosomal dominant skos:closeMatch OMIM:191700 urolithiasis, uric acid, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, uric acid, autosomal dominant -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria-deafness-amyloidosis syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064569 MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uda syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191900 -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muckle-wells syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome -MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria-deafness-amyloidosis syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191900 MONDO:0008633 Muckle-Wells syndrome skos:closeMatch NCIT:C119054 Muckle-Wells Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muckle-wells syndrome MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268390 +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch Orphanet:575 Muckle-Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064569 +MONDO:0008633 Muckle-Wells syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muckle-wells syndrome MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch Orphanet:3411 Double uterus-hemivagina-renal agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192050 MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis MONDO:0008636 double uterus-hemivagina-renal agenesis syndrome skos:closeMatch OMIM:192050 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis -MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, cleft -MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, bifid MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uvula, bifid -MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label varicose veins +MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, bifid +MONDO:0008637 bifid uvula skos:closeMatch OMIM:192100 uvula, bifid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uvula, cleft MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym varicose veins +MONDO:0008638 varicose disease skos:closeMatch OMIM:192200 varicose veins semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label varicose veins MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroretinal vasculopathy, hereditary MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch OMIM:192315 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192315 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860518 +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations skos:closeMatch Orphanet:247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192315 +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192350 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1735591 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220708 -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 -MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192350 MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066022 -MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater/vacterl association +MONDO:0008642 VACTERL/vater association skos:closeMatch Orphanet:887 VACTERL/VATER association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053665 MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater/vacterl association -MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen syndrome +MONDO:0008642 VACTERL/vater association skos:closeMatch OMIM:192350 vater/vacterl association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vater/vacterl association MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192430 +MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0008644 velocardiofacial syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shprintzen syndrome MONDO:0008644 velocardiofacial syndrome skos:exactMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym velocardiofacial syndrome -MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular extrasystoles with syncope, perodactyly, and robin sequence +MONDO:0008644 velocardiofacial syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular extrasystoles with syncope, perodactyly, and robin sequence +MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch OMIM:192445 ventricular extrasystoles with syncope, perodactyly, and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular extrasystoles with syncope, perodactyly, and robin sequence MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome skos:closeMatch Orphanet:3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192445 -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic subaortic stenosis, idiopathic MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular hypertrophy, hereditary -MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric septal hypertrophy MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmh +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymmetric septal hypertrophy +MONDO:0008647 hypertrophic cardiomyopathy 1 skos:closeMatch OMIM:192600 cardiomyopathy, familial hypertrophic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic subaortic stenosis, idiopathic MONDO:0008648 ventricular tachycardia, familial skos:closeMatch OMIM:192605 ventricular tachycardia, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, familial polymorphic -MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192800 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860464 +MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192800 MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral fusion, posterior lumbosacral, with blepharoptosis MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch OMIM:192800 vertebral fusion, posterior lumbosacral, with blepharoptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral fusion, posterior lumbosacral, with blepharoptosis MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome skos:closeMatch Orphanet:2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536344 +MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192950 +MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertical talus, congenital -MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pes valgus, congenital convex MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rocker-bottom foot +MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pes valgus, congenital convex MONDO:0008652 congenital vertical talus skos:closeMatch OMIM:192950 vertical talus, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertical talus, congenital -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192950 -MONDO:0008652 congenital vertical talus skos:closeMatch Orphanet:178382 Congenital vertical talus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066242 -MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux MONDO:0008653 vesicoureteral reflux 1 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193000 +MONDO:0008653 vesicoureteral reflux 1 skos:exactMatch NCIT:C84467 Vesicoureteral Reflux semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vesicoureteral reflux MONDO:0008654 nystagmus 4, congenital, autosomal dominant skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vestibulocerebellar disorder with predominant ocular signs +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin pseudodeficiency due to transcobalamin deficiency MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r binder deficiency with lactoferrin deficiency -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn1 deficiency -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency with lactoferrin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin r binder protein deficiency -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193090 -MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 1 deficiency with lactoferrin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets, autosomal dominant +MONDO:0008659 transcobalamin I deficiency skos:closeMatch Orphanet:2967 Transcobalamin I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342700 +MONDO:0008659 transcobalamin I deficiency skos:closeMatch OMIM:193090 transcobalamin 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn1 deficiency MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193100 -MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal dominant +MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets, autosomal dominant MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch Orphanet:89937 Autosomal dominant hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342642 +MONDO:0008660 autosomal dominant hypophosphatemic rickets skos:closeMatch OMIM:193100 hypophosphatemic rickets, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal dominant MONDO:0008661 vitiligo skos:exactMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vitiligo -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy with microcornea, glaucoma, and cataract +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitreoretinochoroidopathy +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536352 MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:263347 MRCS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193220 -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy with microcornea, glaucoma, and cataract -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitreoretinochoroidopathy -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant -MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy skos:closeMatch Orphanet:3086 Autosomal dominant vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888099 +MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860405 MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 +MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193230 MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536677 -MONDO:0008663 snowflake vitreoretinal degeneration skos:closeMatch Orphanet:91496 Snowflake vitreoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860405 MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord paralysis and ptosis MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch OMIM:193240 vocal cord paralysis and ptosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vocal cord paralysis and ptosis MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860403 MONDO:0008665 ptosis-vocal cord paralysis syndrome skos:closeMatch Orphanet:2997 Ptosis-vocal cord paralysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193240 MONDO:0008666 volvulus of midgut skos:closeMatch OMIM:193250 volvulus of midgut semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal malrotation, familial +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019562 +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 +MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193300 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch OMIM:193300 von hippel-lindau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von hippel-lindau syndrome, modifiers of -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193300 -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047716 -MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019562 MONDO:0008667 von Hippel-Lindau disease skos:closeMatch Orphanet:892 Von Hippel-Lindau disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006623 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264039 MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056725 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 -MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008668 von Willebrand disease 1 skos:closeMatch NCIT:C131685 von Willebrand Disease, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193400 +MONDO:0008668 von Willebrand disease 1 skos:closeMatch Orphanet:166078 Von Willebrand disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264039 MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 +MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome with dystopia canthorum MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:894 Waardenburg syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847800 MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193500 -MONDO:0008670 Waardenburg syndrome type 1 skos:closeMatch OMIM:193500 waardenburg syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome with dystopia canthorum MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2 MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenburg syndrome, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg syndrome without dystopia canthorum @@ -7647,81 +7653,81 @@ MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch OMIM:193510 waardenbu MONDO:0008671 Waardenburg syndrome type 2A skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193510 MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis with cafe-au-lait spots MONDO:0008672 Watson syndrome skos:closeMatch OMIM:193520 watson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cafe-au-lait spots with pulmonic stenosis +MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 +MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193530 MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch OMIM:193530 weyers acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrodental dysostosis of weyers MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch OMIM:193530 weyers acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wad MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0457013 MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536695 -MONDO:0008673 acrofacial dysostosis, Weyers type skos:closeMatch Orphanet:952 Acrofacial dysostosis, Weyers type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193530 -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 +MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265224 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535483 -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265224 -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon +MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 +MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukokeratosis, hereditary mucosal -MONDO:0008676 white sponge nevus 1 skos:closeMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus of cannon +MONDO:0008676 white sponge nevus 1 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 +MONDO:0008678 Williams syndrome skos:closeMatch OMIM:194050 williams-beuren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, type 1.5- to type 1.8-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018980 -MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194050 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049644 MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175702 -MONDO:0008678 Williams syndrome skos:closeMatch OMIM:194050 williams-beuren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, type 1.5- to type 1.8-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008678 Williams syndrome skos:closeMatch Orphanet:904 Williams syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194050 MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194070 MONDO:0008679 Wilms tumor 1 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephroblastoma MONDO:0008679 Wilms tumor 1 skos:closeMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastoma MONDO:0008680 Wilms tumor 2 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194071 -MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr -MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017624 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194072 -MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206115 MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931803 +MONDO:0008681 WAGR syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206115 +MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome +MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr +MONDO:0008681 WAGR syndrome skos:closeMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194080 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 -MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0950121 +MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070179 +MONDO:0008682 Denys-Drash syndrome skos:closeMatch Orphanet:220 Denys-Drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d030321 MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, wilms tumor, and genital anomalies MONDO:0008682 Denys-Drash syndrome skos:closeMatch OMIM:194080 denys-drash syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor and pseudo- or true hermaphroditism MONDO:0008683 Wilms tumor 3 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194090 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956097 +MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050361 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194190 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054877 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050361 -MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch Orphanet:280 Wolf-Hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956097 MONDO:0008684 Wolf-Hirschhorn syndrome skos:closeMatch OMIM:194190 wolf-hirschhorn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 4p16.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wpw syndrome MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preexcitation syndrome MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym accessory atrioventricular pathways -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 +MONDO:0008685 Wolff-Parkinson-white syndrome skos:closeMatch OMIM:194200 wolff-parkinson-white syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wpw syndrome +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal dominant MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048017 -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, autosomal dominant -MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch OMIM:194300 woolly hair, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal dominant +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 +MONDO:0008686 isolated familial woolly hair disorder skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536745 +MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327917 MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194350 MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 -MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327917 MONDO:0008688 WT limb-blood syndrome skos:closeMatch Orphanet:3466 WT limb-blood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536751 -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia, familial, type 1, due to red cell leak semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis, hereditary -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis, hereditary -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia, familial, type 1, due to red cell leak semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dehydrated hereditary stomatocytosis MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194400 -MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albumin binding of zinc, elevated -MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia, familial dysalbuminemic +MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperzincemia and hypercalprotectinemia +MONDO:0008691 zinc, elevated plasma skos:closeMatch OMIM:194470 zinc, elevated plasma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albumin binding of zinc, elevated MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperzincemia and hypercalprotectinemia MONDO:0008691 zinc, elevated plasma skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194470 MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis @@ -7729,76 +7735,76 @@ MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteine MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mtp deficiency MONDO:0008692 abetalipoproteinemia skos:closeMatch OMIM:200100 abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microsomal triglyceride transfer protein deficiency MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 -MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200100 +MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000012 MONDO:0008692 abetalipoproteinemia skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0000744 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ablepharon-macrostomia syndrome +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ablepharon-macrostomia syndrome MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200110 -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860224 MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535557 -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ablepharon-macrostomia syndrome -MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch OMIM:200110 ablepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ablepharon-macrostomia syndrome -MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796125 +MONDO:0008693 ablepharon macrostomia syndrome skos:closeMatch Orphanet:920 Ablepharon macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860224 MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200130 +MONDO:0008694 pseudoprogeria syndrome skos:closeMatch Orphanet:2985 Pseudoprogeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796125 MONDO:0008694 pseudoprogeria syndrome skos:closeMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent eyebrows and eyelashes with mental retardation MONDO:0008694 pseudoprogeria syndrome skos:closeMatch OMIM:200130 absent eyebrows and eyelashes with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label absent eyebrows and eyelashes with mental retardation -MONDO:0008695 chorea-acanthocytosis skos:closeMatch OMIM:200150 choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with neurologic disorder -MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008695 chorea-acanthocytosis skos:closeMatch NCIT:C84926 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:2388 Choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200150 +MONDO:0008695 chorea-acanthocytosis skos:closeMatch OMIM:200150 choreoacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with neurologic disorder +MONDO:0008695 chorea-acanthocytosis skos:closeMatch Orphanet:263440 Neuroacanthocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroacanthocytosis MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans with muscle cramps and acral enlargement MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch Orphanet:90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200170 MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome skos:closeMatch OMIM:200170 acanthosis nigricans with muscle cramps and acral enlargement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans with muscle cramps and acral enlargement MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label achalasia -MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achalasia MONDO:0008698 achalasia skos:exactMatch NCIT:C84699 Esophageal Achalasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal achalasia -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860212 -MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 +MONDO:0008698 achalasia skos:exactMatch NCIT:C50451 Achalasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label achalasia MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200450 MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 -MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 +MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536010 +MONDO:0008699 achalasia microcephaly syndrome skos:closeMatch Orphanet:929 Achalasia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860212 MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 +MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200500 MONDO:0008700 acheiropody skos:closeMatch Orphanet:931 Acheiropodia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536014 +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1a MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 -MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1a +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200600 +MONDO:0008701 achondrogenesis type IA skos:closeMatch Orphanet:93299 Achondrogenesis type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536015 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 2 +MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536017 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 2 -MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 MONDO:0008702 achondrogenesis type II skos:closeMatch Orphanet:93296 Achondrogenesis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200610 -MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrogenesis imperfecta -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis +MONDO:0008702 achondrogenesis type II skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200700 MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265260 -MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch Orphanet:93297 Hypochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypochondrogenesis MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200700 acromesomelic dysplasia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondrogenesis, brazilian +MONDO:0008703 acromesomelic dysplasia 2A skos:closeMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypochondrogenesis +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860168 +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200900 +MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, so-called, and severe combined immunodeficiency MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsd with scid MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsd with scid -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch OMIM:200900 short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, so-called, and severe combined immunodeficiency -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200900 -MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency skos:closeMatch Orphanet:935 Short-limb skeletal dysplasia with severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860168 -MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268410 MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200950 +MONDO:0008705 lysosomal acid phosphatase deficiency skos:closeMatch Orphanet:35121 Lysosomal acid phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268410 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 -MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ackerman syndrome MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ackerman syndrome +MONDO:0008706 Ackerman syndrome skos:exactMatch Orphanet:79099 Interstitial granulomatous dermatitis with arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ackerman syndrome MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200970 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538170 MONDO:0008706 Ackerman syndrome skos:closeMatch Orphanet:2561 Pyramidal molars-abnormal upper lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860167 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-mandibular syndrome -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrorenal-mandibular syndrome -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-uterine-mandibular syndrome -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand and split-foot with mandibular hypoplasia -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 -MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860166 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200980 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch Orphanet:958 Acro-renal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535665 +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand and split-foot with mandibular hypoplasia +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-uterine-mandibular syndrome +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal-mandibular syndrome +MONDO:0008707 acro-renal-mandibular syndrome skos:closeMatch OMIM:200980 acrorenal-mandibular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrorenal-mandibular syndrome MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796147 MONDO:0008708 acrocallosal syndrome skos:closeMatch Orphanet:36 Acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200990 MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux duplication, postaxial polydactyly, and absence of corpus callosum @@ -7806,325 +7812,325 @@ MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syn MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008708 acrocallosal syndrome skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495588 +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 MONDO:0008709 acrocephalopolydactyly skos:exactMatch OMIM:256710 elejalde neuroectodermal melanolysosomal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym elejalde syndrome MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200995 -MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 -MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008709 acrocephalopolydactyly skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495588 MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008710 RAB23-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201000 +MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201020 MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537287 -MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:65798 Goodman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201020 -MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201050 +MONDO:0008711 Goodman syndrome skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goodman camptodactyly MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860145 +MONDO:0008712 acrocraniofacial dysostosis skos:closeMatch Orphanet:949 Acrocraniofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201050 +MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221036 MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:622014 Autoimmune encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ae MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201100 -MONDO:0008713 acrodermatitis enteropathica skos:closeMatch Orphanet:37 Acrodermatitis enteropathica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221036 -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 -MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201170 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538183 +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860119 +MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch Orphanet:1788 Acrofacial dysostosis, Rodríguez type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis, rodríguez type MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofacial dysostosis syndrome of rodriguez MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acrofacial dysostosis syndrome of rodriguez MONDO:0008714 acrofacial dysostosis Rodriguez type skos:closeMatch OMIM:201170 acrofacial dysostosis syndrome of rodriguez semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodriguez lethal acrofacial dysostosis syndrome -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip/palate +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch Orphanet:1784 Acrofrontofacionasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860118 +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym affn dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement -MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acrofrontofacionasal dysostosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238590 +MONDO:0008715 acrofrontofacionasal dysostosis skos:closeMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with frontonasal dysostosis and postaxial polysyndactyly MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538187 MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406584 -MONDO:0008716 acrogeria skos:closeMatch OMIM:201200 acrogeria, gottron iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metageria MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201200 +MONDO:0008716 acrogeria skos:closeMatch OMIM:201200 acrogeria, gottron iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metageria +MONDO:0008716 acrogeria skos:closeMatch Orphanet:2500 Acrogeria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238590 MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201250 MONDO:0008718 Morvan syndrome skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751540 MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796290 MONDO:0008719 acrorenal syndrome, autosomal recessive skos:closeMatch Orphanet:971 Acrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201310 -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital isolated acth deficiency -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated adrenocorticotropic hormone deficiency -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth deficiency, isolated -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth deficiency, isolated -MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120433 Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenocorticotropic hormone deficiency MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201400 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, medium-chain, deficiency of -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, medium-chain, deficiency of -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcadh deficiency +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120433 Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenocorticotropic hormone deficiency +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth deficiency, isolated +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch OMIM:201400 acth deficiency, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth deficiency, isolated +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:exactMatch NCIT:C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital isolated adrenocorticotropic hormone deficiency +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency skos:closeMatch Orphanet:199296 Congenital isolated ACTH deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital isolated acth deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220710 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201450 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536038 -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:42 Medium chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, medium-chain, deficiency of +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, medium-chain, deficiency of +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201450 acyl-coa dehydrogenase, medium-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcadh deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201470 MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, short-chain, deficiency of -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, short-chain, deficiency of -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scadh deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scadh deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201470 -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scad deficiency -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887523 -MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201470 acyl-coa dehydrogenase, short-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, short-chain, deficiency of +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537596 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26792 Short chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acads deficiency MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201475 +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26793 Very long chain acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887523 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase, very long-chain, deficiency of MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:201475 acyl-coa dehydrogenase, very long-chain, deficiency of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acyl-coa dehydrogenase, very long-chain, deficiency of -MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201550 MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid congenital adrenal hyperplasia -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid congenital adrenal hyperplasia -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 +MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type skos:closeMatch Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201550 +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342474 +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:90790 Congenital lipoid adrenal hyperplasia due to STAR deficency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid congenital adrenal hyperplasia +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid congenital adrenal hyperplasia +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201710 -MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency skos:closeMatch OMIM:201710 lipoid congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis skos:closeMatch Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201750 MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hsd deficiency MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch NCIT:C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-beta-hydroxysteroid dehydrogenase deficiency -MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hsd deficiency -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch Orphanet:90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201810 +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency skos:closeMatch OMIM:201810 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 3-beta-hydroxysteroid dehydrogenase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyp21 deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 21-hydroxylase deficiency +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperandrogenism, nonclassic type, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch NCIT:C131087 21-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 21-hydroxylase deficiency MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268292 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch Orphanet:90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201910 +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency skos:closeMatch OMIM:201910 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 21-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 11-beta-hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 11-beta-hydroxylase deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p450c11b1 deficiency +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, hypertensive form MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, hypertensive form -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to steroid type 11-beta-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202010 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268292 MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535978 -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch OMIM:202010 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 11-beta-hydroxylase deficiency -MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch NCIT:C131085 11-Beta-Hydroxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 11-beta-hydroxylase deficiency -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency skos:closeMatch Orphanet:90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000002 MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase deficiency -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17,20-lyase deficiency, isolated -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17,20-lyase deficiency, isolated +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to type 17-alpha-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 -MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency skos:closeMatch Orphanet:90796 46,XY disorder of sex development due to isolated 17,20-lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202110 -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859978 -MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202150 MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859978 +MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone skos:closeMatch Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202150 MONDO:0008732 adrenal hypoplasia, cytomegalic type skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202155 -MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202300 MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical carcinoma, pediatric +MONDO:0008734 adrenocortical carcinoma, hereditary skos:closeMatch Orphanet:1501 Adrenocortical carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202300 MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202355 MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect skos:closeMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency due to defect distal to acth receptor -MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 -MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 +MONDO:0008736 peroxisome biogenesis disorder 2B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202370 MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial afibrinogenemia +MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:98880 Familial afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 +MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypofibrinogenemia, congenital MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afibrinogenemia, congenital MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia, congenital -MONDO:0008737 congenital afibrinogenemia skos:closeMatch OMIM:202400 afibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypofibrinogenemia, congenital MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C98130 Afibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label afibrinogenemia MONDO:0008737 congenital afibrinogenemia skos:closeMatch NCIT:C26692 Factor I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label factor i deficiency +MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 MONDO:0008737 congenital afibrinogenemia skos:closeMatch Orphanet:101041 Familial hypofibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202400 MONDO:0008740 agnathia-otocephaly complex skos:closeMatch OMIM:202650 agnathia-otocephaly complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgnathia complex agnathia-holoprosencephaly MONDO:0008740 agnathia-otocephaly complex skos:closeMatch Orphanet:990 Agnathia-holoprosencephaly-situs inversus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202650 -MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202660 MONDO:0008741 PAGOD syndrome skos:closeMatch OMIM:202660 pagod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agonadism with multiple internal malformations -MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202900 -MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus +MONDO:0008741 PAGOD syndrome skos:closeMatch Orphanet:991 PAGOD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202660 MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus +MONDO:0008743 Stimmler syndrome skos:closeMatch OMIM:202900 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus +MONDO:0008743 Stimmler syndrome skos:closeMatch Orphanet:3199 Stimmler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202900 +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859964 +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203000 MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia with alar clefts -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alar-nasal cartilages, coloboma of, with telecanthus MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia with alar clefts -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203000 -MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859964 -MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch OMIM:203100 albinism, oculocutaneous, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome skos:closeMatch OMIM:203000 frontonasal dysplasia with alar clefts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alar-nasal cartilages, coloboma of, with telecanthus MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch Orphanet:79431 Oculocutaneous albinism type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203100 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203200 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 +MONDO:0008745 oculocutaneous albinism type 1A skos:closeMatch OMIM:203100 albinism, oculocutaneous, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown oculocutaneous albinism +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, brown oculocutaneous MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537730 -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, brown oculocutaneous -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch OMIM:203200 albinism, oculocutaneous, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown oculocutaneous albinism +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203200 +MONDO:0008746 oculocutaneous albinism type 2 skos:closeMatch Orphanet:79432 Oculocutaneous albinism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268495 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537731 -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 -MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch OMIM:203290 albinism, oculocutaneous, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xanthism -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 +MONDO:0008747 oculocutaneous albinism type 3 skos:closeMatch Orphanet:79433 Oculocutaneous albinism type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203290 MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 -MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta storage pool disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells +MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch OMIM:203300 hermansky-pudlak syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta storage pool disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008748 Hermansky-Pudlak syndrome 1 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203300 +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932717 MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203330 +MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548077 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch Orphanet:94090 Pseudohypoparathyroidism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932717 -MONDO:0008749 pseudohypoparathyroidism type 2 skos:closeMatch OMIM:203330 pseudohypoparathyroidism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 -MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203340 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859910 +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203340 +MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch Orphanet:2513 Microcephaly-albinism-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537322 MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism-microcephaly-digital anomalies syndrome MONDO:0008750 microcephaly-albinism-digital anomalies syndrome skos:closeMatch OMIM:203340 albinism-microcephaly-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism-microcephaly-digital anomalies syndrome +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-hydroxylase deficiency -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203400 -MONDO:0008751 corticosterone methyloxidase type 1 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038261 -MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363722 Alexander disease type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270726 +MONDO:0008752 Alexander disease skos:closeMatch Orphanet:58 Alexander disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008752 Alexander disease skos:closeMatch Orphanet:363717 Alexander disease type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203450 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000474 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203500 -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001689 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931645 MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002066 +MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001689 MONDO:0008753 alkaptonuria skos:closeMatch OMIM:203500 alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aku -MONDO:0008753 alkaptonuria skos:closeMatch Orphanet:56 Alkaptonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931645 MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795895 -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd mental retardation syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203550 -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-contractures-dwarfism mental retardation syndrome -MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-contractures-dwarfism mental retardation syndrome +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acd mental retardation syndrome MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537051 +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-contractures-dwarfism mental retardation syndrome +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch OMIM:203550 alopecia-contractures-dwarfism mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-contractures-dwarfism mental retardation syndrome +MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome skos:closeMatch Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795895 +MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-epilepsy-oligophrenia syndrome of moynahan MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moynahan alopecia syndrome MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-epilepsy-oligophrenia syndrome of moynahan -MONDO:0008755 Moynahan syndrome skos:closeMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-epilepsy-oligophrenia syndrome of moynahan MONDO:0008755 Moynahan syndrome skos:closeMatch Orphanet:2574 Moynahan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203600 MONDO:0008756 alopecia - intellectual disability syndrome skos:closeMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amr syndrome -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 -MONDO:0008757 alopecia universalis congenita skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001767 +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203655 +MONDO:0008757 alopecia universalis congenita skos:closeMatch OMIM:104000 alopecia areata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia universalis +MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263505 -MONDO:0008757 alopecia universalis congenita skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537055 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203700 MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062943 -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal degeneration of childhood with liver disorder, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal degeneration of childhood with liver disorder, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4a (alpers type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oxoglutaric aciduria -MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency +MONDO:0008758 mitochondrial DNA depletion syndrome 4a skos:closeMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oxoglutaric aciduria +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536582 -MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency +MONDO:0008759 oxoglutaricaciduria skos:closeMatch Orphanet:31 Oxoglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752074 +MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-ketoglutarate dehydrogenase deficiency MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-kgd deficiency +MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency -MONDO:0008759 oxoglutaricaciduria skos:closeMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-ketoglutarate dehydrogenase deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-methylacetoacetic aciduria MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-ktd deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial acetoacetyl-coa thiolase deficiency MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-methylacetoacetic aciduria -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NCIT:C98841 Alpha-Methylacetoacetic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial acetoacetyl-coa thiolase deficiency +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric acidemia MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:134 Beta-ketothiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203750 +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat deficiency -MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methyl-3-hydroxybutyric acidemia +MONDO:0008760 beta-ketothiolase deficiency skos:closeMatch NCIT:C98841 Alpha-Methylacetoacetic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-methylacetoacetic aciduria MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203780 +MONDO:0008762 autosomal recessive Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268425 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068783 -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203800 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056769 -MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268425 -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0008763 Alstrom syndrome skos:closeMatch Orphanet:64 Alström syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203800 MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204000 -MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0008764 Leber congenital amaurosis 1 skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204100 +MONDO:0008765 Leber congenital amaurosis 2 skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amaurosis congenita, cone-rod type, with congenital hypertrichosis MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amaurosis congenita, cone-rod type, with congenital hypertrichosis MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536604 MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch Orphanet:1021 Amaurosis-hypertrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204110 -MONDO:0008766 amaurosis-hypertrichosis syndrome skos:closeMatch OMIM:204110 amaurosis congenita, cone-rod type, with congenital hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amaurosis congenita, cone-rod type, with congenital hypertrichosis -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt-spielmeyer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spielmeyer-sjogren disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, juvenile -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204200 MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch Orphanet:228346 CLN3 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln3 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spielmeyer-sjogren disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, juvenile MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008767 neuronal ceroid lipofuscinosis 3 skos:closeMatch OMIM:204200 ceroid lipofuscinosis, neuronal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vogt-spielmeyer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln4a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:228340 CLN4A disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 MONDO:0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204300 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 2, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 +MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln2 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:228349 CLN2 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 MONDO:0008769 neuronal ceroid lipofuscinosis 2 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204500 +MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, local hypoplastic type, autosomal recessive MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204650 -MONDO:0008770 amelogenesis imperfecta type 1C skos:closeMatch OMIM:204650 amelogenesis imperfecta, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, local hypoplastic type, autosomal recessive +MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 +MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch OMIM:204690 amelogenesis imperfecta, iia 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic, with nephrocalcinosis MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204690 MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538241 -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch Orphanet:1031 Enamel-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta-nephrocalcinosis syndrome -MONDO:0008771 amelogenesis imperfecta type 1G skos:closeMatch OMIM:204690 amelogenesis imperfecta, iia 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic, with nephrocalcinosis -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia1 -MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia1 MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch OMIM:204700 amelogenesis imperfecta, hypomaturation type, iia1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia1 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 +MONDO:0008772 amelogenesis imperfecta type 2A1 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204700 MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria skos:closeMatch Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204750 -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgdl -MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, corneal MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, gelatinous drop-like +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, corneal +MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgdl MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch OMIM:204870 corneal dystrophy, gelatinous drop-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, gelatinous drop-like MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535480 MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98957 Gelatinous drop-like corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:204870 @@ -8133,10 +8139,10 @@ MONDO:0008777 gelatinous drop-like corneal dystrophy skos:closeMatch Orphanet:98 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0008779 arthrogryposis skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 -MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205100 MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch OMIM:205100 amyotrophic lateral sclerosis 2, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als, juvenile -MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis, juvenile, with dementia +MONDO:0008780 amyotrophic lateral sclerosis type 2, juvenile skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205100 MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-dementia complex +MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis, juvenile, with dementia MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia skos:closeMatch OMIM:205200 amyotrophic lateral sclerosis, juvenile, with dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis, juvenile, with dementia MONDO:0008782 amyotrophic lateral sclerosis with polyglucosan bodies skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205250 MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205400 @@ -8145,237 +8151,237 @@ MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease sem MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 MONDO:0008783 Tangier disease skos:closeMatch OMIM:205400 tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tgd MONDO:0008783 Tangier disease skos:closeMatch Orphanet:31150 Tangier disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013631 -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 +MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 +MONDO:0008785 sideroblastic anemia 2 skos:closeMatch Orphanet:260305 Autosomal recessive sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:205950 MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008785 sideroblastic anemia 2 skos:closeMatch OMIM:205950 anemia, sideroblastic, 2, pyridoxine-refractory semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 2, pyridoxine-refractory semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital sideroblastic, b6-responsive MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, pyridoxine-responsive, autosomal recessive MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, pyridoxine-responsive, autosomal recessive -MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008786 pyridoxine-responsive sideroblastic anemia skos:closeMatch OMIM:206000 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, congenital sideroblastic, b6-responsive MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch OMIM:206100 anemia, hypochromic microcytic, with iron overload 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008787 microcytic anemia with liver iron overload skos:closeMatch Orphanet:83642 Microcytic anemia with liver iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206100 -MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206200 MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-iron-deficiency anemia MONDO:0008788 IRIDA syndrome skos:closeMatch OMIM:206200 iron-refractory iron deficiency anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron-handling disorder, hereditary +MONDO:0008788 IRIDA syndrome skos:closeMatch Orphanet:209981 IRIDA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206200 MONDO:0008791 anencephaly 1 skos:closeMatch Orphanet:1048 Isolated anencephaly/exencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206500 -MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipoma microthromboticum MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipomatosis, familial -MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206550 MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859784 +MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolipoma microthromboticum MONDO:0008792 familial angiolipomatosis skos:closeMatch OMIM:206550 angiolipomatosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiolipomatosis, familial +MONDO:0008792 familial angiolipomatosis skos:closeMatch Orphanet:199279 Familial angiolipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206550 MONDO:0008793 angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert skos:closeMatch OMIM:206570 angiomatosis, diffuse corticomeningeal, of divry and van bogaert semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym divry-van bogaert syndrome -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, cerebellar ataxia, and mental retardation -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gillespie syndrome MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206700 -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome -MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431401 MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia, partial, with unilateral renal agenesis and psychomotor retardation -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, partial, with unilateral renal agenesis and psychomotor retardation -MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859782 +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch Orphanet:1065 Aniridia-cerebellar ataxia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431401 +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gillespie syndrome +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, cerebellar ataxia, and mental retardation +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome skos:closeMatch OMIM:206700 gillespie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gillespie syndrome MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206750 +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch Orphanet:1064 Aniridia-renal agenesis-psychomotor retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859782 +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia, partial, with unilateral renal agenesis and psychomotor retardation +MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome skos:closeMatch OMIM:206750 aniridia, partial, with unilateral renal agenesis and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aniridia, partial, with unilateral renal agenesis and psychomotor retardation MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002583 -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anodontia of permanent dentition -MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, permanent, absence of MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206780 MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 -MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anodontia of permanent dentition +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anodontia of permanent dentition +MONDO:0008797 anodontia skos:closeMatch OMIM:206780 anodontia of permanent dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, permanent, absence of +MONDO:0008797 anodontia skos:closeMatch Orphanet:99797 Anodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000848 MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:94150 Anonychia congenita totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia congenita totalis MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206800 -MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia/hyponychia congenita MONDO:0008798 nonsyndromic congenital nail disorder 4 skos:closeMatch OMIM:206800 nail disorder, nonsyndromic congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia totalis -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with associated anomalies MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with associated anomalies MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and esophageal atresia syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia and abnormalities of the central nervous system MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-esophageal-genital syndrome +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aeg syndrome MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch Orphanet:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206900 -MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic nerve hypoplasia and abnormalities of the central nervous system +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome skos:closeMatch OMIM:206900 microphthalmia, syndromic 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch OMIM:206920 microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-syndactyly MONDO:0008800 microphthalmia with limb anomalies skos:closeMatch Orphanet:1106 Microphthalmia with limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:206920 -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures MONDO:0008803 Antley-Bixler syndrome skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 +MONDO:0008803 Antley-Bixler syndrome skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859754 -MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207620 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 +MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch Orphanet:1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535881 MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangy with hemivertebrae MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome skos:closeMatch OMIM:207620 aphalangy with hemivertebrae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangy with hemivertebrae MONDO:0008807 apnea, central sleep skos:closeMatch OMIM:207720 apnea, central sleep semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sleep apnea, lethal central -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita with intestinal lymphangiectasia -MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with intestinal lymphangiectasia MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with intestinal lymphangiectasia +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with intestinal lymphangiectasia +MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch OMIM:207731 aplasia cutis congenita with intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita with intestinal lymphangiectasia MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207731 MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome skos:closeMatch Orphanet:1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537788 -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207740 -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930955 -MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital extensor muscle aplasia-polyneuropathy +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930955 +MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch Orphanet:2926 Digital extensor muscle aplasia-polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207740 MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy MONDO:0008809 polyneuropathy-hand defect syndrome skos:closeMatch OMIM:207740 aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c-ii anapolipoproteinemia +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apoc2 deficiency +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein c-ii deficiency MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein c-ii deficiency +MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268199 MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720779 -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:309020 Familial apolipoprotein C-II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c-ii anapolipoproteinemia -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apoc2 deficiency MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207750 -MONDO:0008810 familial apolipoprotein C-II deficiency skos:closeMatch OMIM:207750 apolipoprotein c-ii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein c-ii deficiency MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 -MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xk aprosencephaly syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795952 +MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536767 MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly syndrome -MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly syndrome +MONDO:0008811 XK aprosencephaly skos:closeMatch OMIM:207770 aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xk syndrome MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:566852 Atelencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atelencephaly MONDO:0008811 XK aprosencephaly skos:closeMatch Orphanet:3469 XK aprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207770 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537427 -MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207780 MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342280 +MONDO:0008812 AREDYLD syndrome skos:closeMatch Orphanet:1133 AREDYLD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207780 MONDO:0008812 AREDYLD syndrome skos:closeMatch OMIM:207780 aredyld semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 -MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049005 MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016080 +MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049005 MONDO:0008813 arachnoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078981 -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062695 -MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207800 MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268548 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207800 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 +MONDO:0008814 hyperargininemia skos:closeMatch Orphanet:90 Argininemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020162 MONDO:0008814 hyperargininemia skos:closeMatch OMIM:207800 argininemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arg1 deficiency +MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 +MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207900 MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058299 MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268547 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207900 -MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 MONDO:0008815 argininosuccinic aciduria skos:closeMatch OMIM:207900 argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argininosuccinate lyase deficiency MONDO:0008815 argininosuccinic aciduria skos:closeMatch Orphanet:23 Argininosuccinic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056807 -MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207950 -MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056945 +MONDO:0008816 Chiari malformation type II skos:closeMatch NCIT:C84570 Arnold-Chiari Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arnold-chiari malformation MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arnold-chiari malformation MONDO:0008816 Chiari malformation type II skos:closeMatch OMIM:207950 chiari malformation iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cm2 -MONDO:0008816 Chiari malformation type II skos:closeMatch NCIT:C84570 Arnold-Chiari Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arnold-chiari malformation -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriopathy, occlusive infantile -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification, idiopathic infantile +MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207950 +MONDO:0008816 Chiari malformation type II skos:closeMatch Orphanet:1136 Arnold-Chiari malformation type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056945 +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary sclerosis, medial, of infancy MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaci -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification, idiopathic infantile MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208000 -MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary sclerosis, medial, of infancy +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriopathy, occlusive infantile +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification +MONDO:0008817 arterial calcification, generalized, of infancy, 1 skos:closeMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic infantile arterial calcification +MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial tortuosity MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859726 MONDO:0008818 arterial tortuosity syndrome skos:closeMatch Orphanet:3342 Arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208050 -MONDO:0008818 arterial tortuosity syndrome skos:closeMatch OMIM:208050 arterial tortuosity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial tortuosity MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208085 -MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208100 +MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arc syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 -MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859721 MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536614 -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal akinesia deformation sequence -MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208100 +MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type skos:closeMatch Orphanet:1143 Neurogenic arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859721 +MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia +MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal akinesia sequence MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fetal akinesia deformation sequence MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome -MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal akinesia sequence -MONDO:0008824 fetal akinesia deformation sequence skos:closeMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita with pulmonary hypoplasia -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fetal akinesia deformation sequence +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal akinesia deformation sequence +MONDO:0008824 fetal akinesia deformation sequence skos:exactMatch OMIM:208150 fetal akinesia deformation sequence 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal akinesia deformation sequence MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859711 -MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label illum syndrome MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, whistling face, and developmental retardation +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch OMIM:208155 illum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illum syndrome +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538401 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859711 +MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome skos:closeMatch Orphanet:1150 Arthrogryposis multiplex congenita-whistling face syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208155 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859710 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch Orphanet:1485 Arthrogryposis-hyperkeratosis syndrome, lethal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208158 MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with hyperkeratosis MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form skos:closeMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis with hyperkeratosis -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208230 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with progressive arthropathy MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthropathy, progressive pseudorheumatoid, of childhood -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive pseudorheumatoid dysplasia -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppd MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive pseudorheumatoid dysplasia -MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with progressive arthropathy +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppd +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208230 +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood skos:closeMatch Orphanet:1159 Progressive pseudorheumatoid arthropathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535387 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208250 MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch Orphanet:2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly-arthropathy-coxa-vara-pericarditis syndrome MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosing serositis, familial MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome skos:closeMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic synovitis, congenital familial MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascites, chylous MONDO:0008829 chylous ascites skos:closeMatch OMIM:208300 ascites, chylous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ascites, chylous +MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008732 +MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208300 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003446 MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002915 -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208300 -MONDO:0008829 chylous ascites skos:closeMatch Orphanet:1160 Chylous ascites semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008732 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068220 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aga deficiency +MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoasparaginase MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208400 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068220 MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268225 -MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoasparaginase -MONDO:0008830 aspartylglucosaminuria skos:closeMatch OMIM:208400 aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aga deficiency +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208400 +MONDO:0008830 aspartylglucosaminuria skos:closeMatch Orphanet:93 Aspartylglucosaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054880 +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208500 MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeune syndrome -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome -MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208500 +MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch NCIT:C84794 Jeune Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jeune syndrome MONDO:0008831 asphyxiating thoracic dystrophy 1 skos:closeMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracic-pelvic-phalangeal dystrophy -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotaxy, visceroatrial, autosomal recessive -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyasplenia -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208530 -MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068335 -MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right isomerism MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polysplenia syndrome MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vah, autosomal recessive -MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhpd +MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068335 +MONDO:0008832 right atrial isomerism skos:closeMatch Orphanet:97548 Right sided atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208530 +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right isomerism +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotaxy, visceroatrial, autosomal recessive +MONDO:0008832 right atrial isomerism skos:closeMatch OMIM:208530 right atrial isomerism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyasplenia MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208540 +MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 skos:closeMatch OMIM:208540 renal-hepatic-pancreatic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhpd MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, aspirin-induced, susceptibility to -MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asa triad MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma and nasal polyps -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208850 -MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-retardation syndrome +MONDO:0008834 asthma, nasal polyps, and aspirin intolerance skos:closeMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asa triad MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-retardation syndrome MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adr syndrome +MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch OMIM:208850 ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-retardation syndrome +MONDO:0008838 ataxia - deafness - intellectual disability syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208850 MONDO:0008839 ataxia-microcephaly-cataract syndrome skos:closeMatch OMIM:208870 ataxia-microcephaly-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc syndrome +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003594 MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004135 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001260 +MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208900 MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:370109 Ataxia-telangiectasia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876175 +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group c +MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group a MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group e MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group d -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group a -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at, complementation group c -MONDO:0008840 ataxia telangiectasia skos:closeMatch OMIM:208900 ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia -MONDO:0008840 ataxia telangiectasia skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003594 MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death skos:closeMatch Orphanet:100 Ataxia-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208910 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:208920 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with hypoalbuminemia -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like syndrome -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, adult-onset, with oculomotor apraxia +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:1168 Ataxia-oculomotor apraxia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with hypoalbuminemia MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch NCIT:C173401 Ataxia-Oculomotor Apraxia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859598 MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia syndrome +MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like syndrome MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 1 semapv:RegularExpressionReplacement -MONDO:0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia skos:closeMatch OMIM:208920 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, adult-onset, with oculomotor apraxia MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch Orphanet:1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209010 MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome skos:closeMatch OMIM:209010 atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -8385,48 +8391,48 @@ MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransfe MONDO:0008846 atransferrinemia skos:closeMatch Orphanet:1195 Congenital atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538259 MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transferrin serum level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008846 atransferrinemia skos:closeMatch OMIM:209300 atransferrinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotransferrinemia, familial -MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859592 MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209500 +MONDO:0008847 atrichia with papular lesions skos:closeMatch Orphanet:86819 Atrichia with papular lesions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859592 MONDO:0008848 atrioventricular dissociation skos:closeMatch OMIM:209600 atrioventricular dissociation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym a-v dissociation +MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata +MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ava MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy -MONDO:0008849 atrophoderma vermiculata skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei -MONDO:0008849 atrophoderma vermiculata skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209700 +MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209770 MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aural atresia, multiple congenital anomalies, and mental retardation MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch OMIM:209770 aural atresia, multiple congenital anomalies, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aural atresia, multiple congenital anomalies, and mental retardation -MONDO:0008850 Cooper-Jabs syndrome skos:closeMatch Orphanet:1488 Cooper-Jabs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209770 MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barber-say syndrome +MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 +MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209885 MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537908 -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209885 -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0008853 Barber-Say syndrome skos:closeMatch Orphanet:1231 Barber-Say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1319466 MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barber-say syndrome -MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, atrophic skin, ectropion, and macrostomia +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss +MONDO:0008853 Barber-Say syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0008854 Bardet-Biedl syndrome 1 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209900 -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative -MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C3895 Bare Lymphocyte Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209920 +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0008855 MHC class II deficiency skos:closeMatch NCIT:C171268 Bare Lymphocyte Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bare lymphocyte syndrome type 2 +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, hla class ii-negative +MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:572 Immunodeficiency by defective expression of MHC class II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome type 2 +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative +MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, hla class ii-negative MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 MONDO:0008855 MHC class II deficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bare lymphocyte syndrome -MONDO:0008855 MHC class II deficiency skos:closeMatch OMIM:209920 bare lymphocyte syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, hla class ii-negative -MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr1 deficiency, autosomal recessive -MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 27a, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 +MONDO:0008856 immunodeficiency 27A skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209950 +MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 27a, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008856 immunodeficiency 27A skos:closeMatch OMIM:209950 immunodeficiency 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr1 deficiency, autosomal recessive MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537668 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859526 MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch Orphanet:1237 Beemer-Ertbruggen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209970 @@ -8435,108 +8441,108 @@ MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer leth MONDO:0008857 Beemer-Ertbruggen syndrome skos:closeMatch OMIM:209970 beemer lethal malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beemer lethal malformation syndrome MONDO:0008858 Behr syndrome skos:closeMatch OMIM:210000 behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile hereditary, with neurologic abnormalities MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification skos:closeMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral aneurysm-cirrhosis syndrome -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baib urinary excretion +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-aminoisobutyric aciduria MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-beta-aminoisobutyric aciduria -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-aminoisobutyric aciduria -MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of skos:closeMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baib urinary excretion -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210200 MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535308 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch NCIT:C98674 Methylcrotonyl-CoA Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylcrotonyl-coa carboxylase deficiency -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210200 -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc1 deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch NCIT:C98674 Methylcrotonyl-CoA Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylcrotonyl-coa carboxylase deficiency +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch Orphanet:6 3-methylcrotonyl-CoA carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210210 MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcc2 deficiency +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonylglycinuria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:closeMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylcrotonyl-coa carboxylase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008863 sitosterolemia skos:closeMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia/stomatocytosis, mediterranean -MONDO:0008863 sitosterolemia skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytosterolemia +MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063985 MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342907 MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 -MONDO:0008863 sitosterolemia skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537345 -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0008863 sitosterolemia skos:exactMatch OMIM:210250 sitosterolemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phytosterolemia MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859487 +MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement MONDO:0008864 Biemond syndrome type 2 skos:closeMatch Orphanet:141333 Biemond syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210350 -MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bietti crystalline dystrophy +MONDO:0008864 Biemond syndrome type 2 skos:closeMatch OMIM:210350 biemond syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biemond syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti tapetoretinal degeneration with marginal corneal dystrophy +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti crystalline dystrophy MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535440 +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210370 MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859486 -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti crystalline dystrophy -MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bietti tapetoretinal degeneration with marginal corneal dystrophy -MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nose, median cleft of +MONDO:0008865 Bietti crystalline corneoretinal dystrophy skos:closeMatch Orphanet:41751 Bietti crystalline dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bietti crystalline dystrophy MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym median fissure of nose +MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch OMIM:210400 bifid nose, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nose, median cleft of MONDO:0008866 bifid nose, autosomal recessive skos:closeMatch Orphanet:2695 Bifid nose semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210400 -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 -MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated biliary atresia MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003650 MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 +MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001656 +MONDO:0008867 biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005411 MONDO:0008868 biliary malformation with renal tubular insufficiency skos:closeMatch OMIM:210550 biliary malformation with renal tubular insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestatic jaundice and renal tubular insufficiency MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism -MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210600 +MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sckl MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seckel-type dwarfism MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanocephalic dwarfism -MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sckl +MONDO:0008869 Seckel syndrome 1 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210600 MONDO:0008869 Seckel syndrome 1 skos:closeMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephalic primordial dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859468 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 +MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535448 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephalic primordial dwarfism, montreal type MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210700 MONDO:0008870 bird headed-dwarfism, Montreal type skos:closeMatch Orphanet:2617 Microcephalic primordial dwarfism, Montreal type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism, montreal type MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210710 +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taybi-linder syndrome MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch OMIM:210720 microcephalic osteodysplastic primordial dwarfism, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II skos:closeMatch Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210720 MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch OMIM:210730 microcephalic osteodysplastic primordial dwarfism, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 skos:closeMatch Orphanet:2636 Microcephalic osteodysplastic primordial dwarfism types I and III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210730 -MONDO:0008874 Bangstad syndrome skos:closeMatch OMIM:210740 bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency +MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537902 MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210740 -MONDO:0008874 Bangstad syndrome skos:closeMatch Orphanet:1227 Bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342284 -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210745 -MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with ptosis, syndactyly, and short stature +MONDO:0008874 Bangstad syndrome skos:closeMatch OMIM:210740 bangstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with ptosis, syndactyly, and short stature +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch OMIM:210745 blepharophimosis with ptosis, syndactyly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with ptosis, syndactyly, and short stature +MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome skos:closeMatch Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210745 +MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth restriction, and increased sister chromatid exchange type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001816 -MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210900 MONDO:0008876 Bloom syndrome skos:closeMatch Orphanet:125 Bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005859 -MONDO:0008876 Bloom syndrome skos:closeMatch OMIM:210900 bloom syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth restriction, and increased sister chromatid exchange type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 +MONDO:0008877 blue diaper syndrome skos:closeMatch OMIM:211000 blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial, with nephrocalcinosis and indicanuria MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211000 MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268478 MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 -MONDO:0008877 blue diaper syndrome skos:closeMatch OMIM:211000 blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalcemia, familial, with nephrocalcinosis and indicanuria +MONDO:0008877 blue diaper syndrome skos:closeMatch Orphanet:94086 Blue diaper syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536239 MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211120 MONDO:0008878 bone dysplasia, lethal Holmgren type skos:closeMatch Orphanet:1842 Bone dysplasia, lethal Holmgren type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859407 +MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859405 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537081 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211180 -MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch Orphanet:1270 Bowen-Conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859405 MONDO:0008879 Bowen-Conradi syndrome skos:closeMatch OMIM:211180 bowen-conradi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowen hutterite syndrome, formerly +MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211350 MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 +MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432239 MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538128 MONDO:0008881 kyphomelic dysplasia skos:closeMatch OMIM:211350 kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing, congenital, with short bones -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211350 -MONDO:0008881 kyphomelic dysplasia skos:closeMatch Orphanet:1801 Kyphomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432239 MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bowing of long bones, asymmetric and symmetric MONDO:0008882 congenital bowing of long bones skos:closeMatch OMIM:211355 bowing of long bones, asymmetric and symmetric semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowing of long bones, asymmetric and symmetric MONDO:0008882 congenital bowing of long bones skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054064 @@ -8545,144 +8551,144 @@ MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoos MONDO:0008884 oculoosteocutaneous syndrome skos:closeMatch Orphanet:2713 Oculoosteocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859385 MONDO:0008885 Elsahy-Waters syndrome skos:closeMatch Orphanet:1299 Branchioskeletogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211380 MONDO:0008886 Sabinas brittle hair syndrome skos:closeMatch OMIM:211390 sabinas brittle hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle hair and mental deficit +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211400 -MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0008888 Williams-Campbell syndrome skos:closeMatch NCIT:C85195 Tracheobronchomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchomalacia -MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211480 MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040021 MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008889 thromboangiitis obliterans skos:closeMatch Orphanet:36258 Buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211480 MONDO:0008889 thromboangiitis obliterans skos:closeMatch NCIT:C35070 Buerger Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008889 thromboangiitis obliterans skos:closeMatch OMIM:211480 buerger disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label buerger disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fazio-londe disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008890 progressive bulbar palsy skos:closeMatch OMIM:211500 fazio-londe disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bulbar palsy, progressive, of childhood +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 +MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 MONDO:0008891 riboflavin transporter deficiency skos:closeMatch NCIT:C133724 Brown-Vialetto-Van Laere Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008891 riboflavin transporter deficiency skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 -MONDO:0008891 riboflavin transporter deficiency skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537111 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch NCIT:C84453 Progressive Familial Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis -MONDO:0008892 progressive familial intrahepatic cholestasis type 1 skos:closeMatch Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211600 -MONDO:0008893 C syndrome skos:closeMatch OMIM:211750 c syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly syndrome -MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796095 MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211750 +MONDO:0008893 C syndrome skos:closeMatch Orphanet:1308 C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796095 +MONDO:0008893 C syndrome skos:closeMatch OMIM:211750 c syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly syndrome MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch OMIM:211770 cahmr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, hypertrichosis, mental retardation syndrome -MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211770 MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796282 +MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome skos:closeMatch Orphanet:1375 Cataract-hypertrichosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211770 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch OMIM:211800 calcification of joints and arteries semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial calcification due to deficiency of cd73 MONDO:0008895 hereditary arterial and articular multiple calcification syndrome skos:closeMatch Orphanet:289601 Hereditary arterial and articular multiple calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211800 -MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cumming syndrome MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical lymphocele with bowed long bones -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859371 -MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211890 +MONDO:0008896 campomelia, Cumming type skos:closeMatch OMIM:211890 campomelia, cumming iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cumming syndrome MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 +MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859371 MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537966 +MONDO:0008896 campomelia, Cumming type skos:closeMatch Orphanet:1318 Campomelia, Cumming type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211890 +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211910 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859359 -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch OMIM:211910 camptodactyly syndrome, guadalajara, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciothoracoskeletal syndrome -MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211910 +MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 skos:closeMatch Orphanet:1327 Camptodactyly syndrome, Guadalajara type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537970 MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 skos:closeMatch Orphanet:1326 Camptodactyly syndrome, Guadalajara type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211920 +MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211930 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537974 -MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia skos:closeMatch Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211930 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859356 -MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 -MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer -MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar cell carcinoma +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536953 +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch Orphanet:3292 Tel Hashomer camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211960 +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases +MONDO:0008901 Tel Hashomer camptodactyly syndrome skos:closeMatch OMIM:211960 camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung cancer, protection against +MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar cell carcinoma +MONDO:0008903 lung cancer skos:closeMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer MONDO:0008903 lung cancer skos:closeMatch NCIT:C3200 Lung Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung neoplasm MONDO:0008904 camptomelic syndrome, long-limb type skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211990 +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212050 MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card9 immunodeficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch Orphanet:457088 Predisposition to invasive fungal disease due to CARD9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212050 -MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch OMIM:212065 congenital disorder of glycosylation, iia ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jaeken syndrome MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349653 MONDO:0008907 PMM2-congenital disorder of glycosylation skos:closeMatch Orphanet:79318 PMM2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212065 -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iia +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkuraya syndrome MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931008 -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, growth retardation, prominent columella, and open mouth +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iia MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch Orphanet:79329 MGAT2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212066 -MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alkuraya syndrome +MONDO:0008908 MGAT2-congenital disorder of glycosylation skos:closeMatch OMIM:212066 congenital disorder of glycosylation, iia iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, growth retardation, prominent columella, and open mouth MONDO:0008909 congenital disorder of glycosylation, type i/IIx skos:closeMatch OMIM:212067 congenital disorder of glycosylation, iia i/iix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg-x MONDO:0008911 cardiac lipidosis, familial skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212080 -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796031 MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796083 +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212112 +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with premature ovarian failure MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy with primary testicular failure +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796031 MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genital anomaly with cardiomyopathy -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212112 MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with hypergonadotropic hypogonadism -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with premature ovarian failure -MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with hypergonadotropic hypogonadism MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, with hypergonadotropic hypogonadism -MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859327 +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:212112 cardiomyopathy, dilated, with hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with hypergonadotropic hypogonadism MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212135 +MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859327 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 MONDO:0008917 heart defects-limb shortening syndrome skos:closeMatch Orphanet:1354 Heart defects-limb shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535850 -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342791 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212138 -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342791 MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch Orphanet:159 Carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cact deficiency -MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch NCIT:C133086 Carnitine-Acylcarnitine Translocase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine-acylcarnitine translocase deficiency -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic carnitine deficiency -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic primary carnitine deficiency -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine uptake defect +MONDO:0008918 carnitine-acylcarnitine translocase deficiency skos:closeMatch OMIM:212138 carnitine-acylcarnitine translocase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine-acylcarnitine translocase deficiency MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, primary MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine transporter, plasma-membrane, deficiency of +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic carnitine deficiency MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine deficiency, systemic primary -MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine deficiency, systemic primary +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic primary carnitine deficiency +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine uptake defect MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342788 +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch Orphanet:158 Systemic primary carnitine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212140 +MONDO:0008919 systemic primary carnitine deficiency disease skos:closeMatch OMIM:212140 carnitine deficiency, systemic primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine deficiency, systemic primary MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495555 MONDO:0008921 carnosinemia skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212200 -MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocarnosinosis MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocarnosinosis -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome +MONDO:0008921 carnosinemia skos:closeMatch OMIM:236130 homocarnosinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocarnosinosis +MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859317 MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212350 +MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome +MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 10 (cardiomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy and cataract -MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859317 -MONDO:0008922 Sengers syndrome skos:closeMatch OMIM:212350 sengers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 10 (cardiomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008922 Sengers syndrome skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538280 -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212360 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535336 +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212360 MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch Orphanet:1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859316 -MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:212400 cataract and congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract and congenital ichthyosis +MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia skos:closeMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:212400 cataract and congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract and congenital ichthyosis +MONDO:0008924 congenital cataract-ichthyosis syndrome skos:closeMatch OMIM:212400 cataract and congenital ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract and congenital ichthyosis MONDO:0008925 cataract 46 juvenile-onset skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212500 -MONDO:0008926 COFS syndrome skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cofs syndrome MONDO:0008926 COFS syndrome skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220722 +MONDO:0008926 COFS syndrome skos:exactMatch OMIM:214150 cerebrooculofacioskeletal syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cofs syndrome MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic disc anomalies with retinal and/or macular dystrophy -MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic disc anomalies with retinal and/or macular dystrophy -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract-ataxia-deafness-retardation syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy-cataract-deafness syndrome -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-ataxia-deafness-retardation syndrome +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome skos:closeMatch Orphanet:435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212550 +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796123 MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212710 MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538283 -MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch Orphanet:1368 Cataract-ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796123 -MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac sprue, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract-ataxia-deafness-retardation syndrome +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy-cataract-deafness syndrome +MONDO:0008928 cataract-ataxia-deafness syndrome skos:closeMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-ataxia-deafness-retardation syndrome MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008930 celiac disease, susceptibility to, 1 skos:closeMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym celiac sprue, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cenani-lenz syndrome MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch Orphanet:3258 Cenani-Lenz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212780 MONDO:0008931 Cenani-Lenz syndactyly syndrome skos:closeMatch OMIM:212780 cenani-lenz syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cenani syndactylism @@ -8692,203 +8698,203 @@ MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OM MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch OMIM:212835 cerebellar ataxia and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and ectodermal dysplasia MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535350 -MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859306 MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212835 -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859305 +MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome skos:closeMatch Orphanet:1174 Cerebellar ataxia-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859306 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212840 -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone-releasing hormone, deficiency of, with ataxia +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859305 MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and hypogonadotropic hypogonadism -MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhrh deficiency and ataxia MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon holmes syndrome +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhrh deficiency and ataxia +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone-releasing hormone, deficiency of, with ataxia MONDO:0008935 cerebellar ataxia-hypogonadism syndrome skos:closeMatch OMIM:212840 gordon holmes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon holmes syndrome MONDO:0008937 cerebellar ataxia, benign, with thermoanalgesia skos:closeMatch OMIM:212890 cerebellar ataxia, benign, with thermoanalgesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with loss of pain and temperature sensation MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393520 +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535633 -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch Orphanet:1177 Early-onset cerebellar ataxia with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212895 -MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, early-onset, with retained tendon reflexes MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, early-onset, with retained tendon reflexes +MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes skos:closeMatch OMIM:212895 cerebellar ataxia, early-onset, with retained tendon reflexes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, early-onset, with retained tendon reflexes MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213000 -MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cerebellar agenesis MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008033 -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome +MONDO:0008939 isolated cerebellar hypoplasia/agenesis skos:closeMatch Orphanet:1398 Isolated cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cerebellar agenesis MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch OMIM:213010 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome skos:closeMatch Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213010 -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar granular cell hypoplasia and mental retardation, congenital MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch OMIM:213200 spinocerebellar ataxia, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebelloparenchymal disorder type 3 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859298 MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 skos:closeMatch Orphanet:1170 Autosomal recessive cerebelloparenchymal disorder type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213200 -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome +MONDO:0008944 Joubert syndrome 1 skos:closeMatch NCIT:C74996 Joubert Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome -MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008944 Joubert syndrome 1 skos:closeMatch NCIT:C74996 Joubert Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome -MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213300 +MONDO:0008944 Joubert syndrome 1 skos:closeMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert-boltshauser syndrome MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ramsay hunt syndrome -MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssynergia cerebellaris myoclonica of hunt +MONDO:0008944 Joubert syndrome 1 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213300 MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebelloparenchymal disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssynergia cerebellaris myoclonica of hunt MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssynergia cerebellaris myoclonica of hunt MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinodentate atrophy +MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ramsay hunt syndrome MONDO:0008945 myoclonic cerebellar dyssynergia skos:closeMatch Orphanet:3020 Ramsay Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ramsay hunt syndrome -MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym idiopathic basal ganglia calcification MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch NCIT:C179297 Idiopathic Basal Ganglia Calcification semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label idiopathic basal ganglia calcification +MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym idiopathic basal ganglia calcification MONDO:0008947 bilateral striopallidodentate calcinosis skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059626 MONDO:0008947 bilateral striopallidodentate calcinosis skos:exactMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary familial brain calcification MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238052 -MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C120031 CTX semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ctx MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cholesterinosis +MONDO:0008948 cerebrotendinous xanthomatosis skos:exactMatch NCIT:C120031 CTX semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ctx MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213700 MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 MONDO:0008948 cerebrotendinous xanthomatosis skos:closeMatch Orphanet:909 Cerebrotendinous xanthomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019294 MONDO:0008950 cerebral sclerosis similar to Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213900 -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group e -MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214100 +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome -MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group e +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zs MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214110 MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) skos:closeMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214150 MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal recessive +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfs, autosomal recessive +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch OMIM:214300 klippel-feil syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical vertebral fusion, autosomal recessive MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214300 -MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406733 +MONDO:0008959 CHAND syndrome skos:closeMatch OMIM:214350 chand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome +MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406733 MONDO:0008959 CHAND syndrome skos:closeMatch Orphanet:1401 CHAND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214350 -MONDO:0008959 CHAND syndrome skos:closeMatch OMIM:214350 chand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curly hair-ankyloblepharon-nail dysplasia syndrome MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214370 MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch Orphanet:90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label charcot-marie-tooth disorder-deafness-intellectual disability syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers +MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers -MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome skos:closeMatch OMIM:118300 charcot-marie-tooth disease and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859198 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214400 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 +MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859198 MONDO:0008961 Charcot-Marie-Tooth disease type 4A skos:closeMatch Orphanet:99948 Charcot-Marie-Tooth disease type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535419 -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859194 -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial albinism and primary neurologic disorder without hemophagocytic syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch OMIM:214450 griscelli syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym griscelli syndrome with neurologic impairment -MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537301 MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:79476 Griscelli syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859194 +MONDO:0008962 Griscelli syndrome type 1 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214450 +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214500 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002609 -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214500 -MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chédiak-higashi syndrome MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007965 MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008415 +MONDO:0008963 Chediak-Higashi syndrome skos:closeMatch Orphanet:167 Chédiak-Higashi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chédiak-higashi syndrome +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital chloride diarrhea +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214700 MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloridorrhea, congenital MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 1, secretory chloride, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214700 -MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch Orphanet:53689 Congenital chloride diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536210 +MONDO:0008964 congenital secretory chloride diarrhea 1 skos:closeMatch OMIM:214700 diarrhea 1, secretory chloride, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloridorrhea, congenital MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058747 -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 -MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265354 MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064063 +MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265354 +MONDO:0008965 CHARGE syndrome skos:closeMatch Orphanet:138 CHARGE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214800 MONDO:0008965 CHARGE syndrome skos:closeMatch OMIM:214800 charge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268314 -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214900 MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome +MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chls +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214900 +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome +MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268314 MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema-cholestasis syndrome MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis-lymphedema syndrome -MONDO:0008966 Aagenaes syndrome skos:closeMatch Orphanet:1414 Cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis-lymphedema syndrome -MONDO:0008966 Aagenaes syndrome skos:closeMatch OMIM:214900 cholestasis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chls MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214950 MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535444 -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:214950 -MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008967 congenital bile acid synthesis defect 4 skos:closeMatch OMIM:214950 bile acid synthesis defect, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537914 -MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859148 MONDO:0008970 chondrodysplasia Blomstrand type skos:closeMatch Orphanet:50945 Blomstrand lethal chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215045 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859133 -MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophia calcificans punctata MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859133 MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch Orphanet:309789 Rhizomelic chondrodysplasia punctata type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215100 +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 skos:closeMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophia calcificans punctata MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata syndrome MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata syndrome MONDO:0008973 chondrodysplasia punctata, Toriello type skos:closeMatch Orphanet:79347 Chondrodysplasia punctata, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215105 MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moth-eaten skeletal dysplasia -MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops-ectopic calcification-moth-eaten skeletal dysplasia -MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215140 MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931048 MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hem skeletal dysplasia -MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness +MONDO:0008974 Greenberg dysplasia skos:closeMatch OMIM:215140 greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops-ectopic calcification-moth-eaten skeletal dysplasia +MONDO:0008974 Greenberg dysplasia skos:closeMatch Orphanet:1426 Greenberg dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215140 MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nance-insley syndrome +MONDO:0008975 otospondylomegaepiphyseal dysplasia skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness +MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008734 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 +MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215300 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002813 MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008479 -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008734 -MONDO:0008977 chondrosarcoma skos:closeMatch Orphanet:55880 Chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215300 +MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215400 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008747 +MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002817 -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215400 -MONDO:0008978 chordoma skos:closeMatch Orphanet:178 Chordoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008487 -MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chordoma, susceptibility to MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chordoma, susceptibility to +MONDO:0008978 chordoma skos:closeMatch OMIM:215400 chordoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chordoma, susceptibility to MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215450 MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign hereditary chorea MONDO:0008979 chorea, benign familial skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859098 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859093 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome skos:closeMatch Orphanet:1180 Ataxia-hypogonadism-choroidal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215470 -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215480 -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859092 -MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus calcification and mental retardation MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus calcification and mental retardation +MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch OMIM:215480 choroid plexus calcification and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus calcification and mental retardation +MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859092 +MONDO:0008981 infantile choroidocerebral calcification syndrome skos:closeMatch Orphanet:1313 Infantile choroidocerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215480 +MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0008982 central areolar choroidal dystrophy skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535358 -MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215518 MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rutland ciliary disorientation syndrome +MONDO:0008984 ciliary discoordination due to random ciliary orientation skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215518 MONDO:0008985 ciliary dyskinesia with transposition of ciliary microtubules skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215520 +MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia, classic MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia, classic MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinuria -MONDO:0008988 citrullinemia type I skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia, classic -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215700 -MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 1 semapv:RegularExpressionReplacement MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058298 +MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 1 semapv:RegularExpressionReplacement +MONDO:0008988 citrullinemia type I skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215700 MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:93940 Laryngotracheoesophageal cleft type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 -MONDO:0008990 cleft larynx, posterior skos:closeMatch OMIM:215800 cleft larynx, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stridor, congenital MONDO:0008990 cleft larynx, posterior skos:closeMatch Orphanet:2004 Laryngotracheoesophageal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215800 -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft-limb-heart malformation syndrome -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clh syndrome -MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft-limb-heart malformation syndrome +MONDO:0008990 cleft larynx, posterior skos:closeMatch OMIM:215800 cleft larynx, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stridor, congenital MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215850 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536541 MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch Orphanet:3429 Verloove Vanhorick-Brubakk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859082 +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clh syndrome +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft-limb-heart malformation syndrome +MONDO:0008991 Verloove Vanhorick-Brubakk syndrome skos:closeMatch OMIM:215850 cleft-limb-heart malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft-limb-heart malformation syndrome MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 +MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch OMIM:216100 juberg-hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with abnormal thumbs and microcephaly +MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537690 MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216100 -MONDO:0008992 Juberg-Hayward syndrome skos:closeMatch Orphanet:2319 Juberg-Hayward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796099 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216300 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch Orphanet:2010 Cleft palate-stapes fixation-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859081 MONDO:0008993 cleft palate-stapes fixation-oligodontia syndrome skos:closeMatch OMIM:216300 cleft palate, deafness, and oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, deafness, and oligodontia @@ -8899,198 +8905,198 @@ MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syn MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch Orphanet:3472 Yunis-Varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536719 MONDO:0008995 Yunis-Varon syndrome skos:closeMatch OMIM:216340 yunis-varon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia -MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049066 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216550 -MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coh +MONDO:0008998 Cockayne syndrome type 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216411 +MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, obesity, and prominent incisors MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepper syndrome +MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coh MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chs1, formerly -MONDO:0008999 Cohen syndrome skos:closeMatch OMIM:216550 cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotonia, obesity, and prominent incisors +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216550 +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 +MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049066 MONDO:0008999 Cohen syndrome skos:closeMatch Orphanet:193 Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536438 MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857624 MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch Orphanet:79147 Familial reactive perforating collagenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216700 -MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenosis, familial reactive perforating MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collagenosis, familial reactive perforating +MONDO:0009000 familial reactive perforating collagenosis skos:closeMatch OMIM:216700 collagenosis, familial reactive perforating semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label collagenosis, familial reactive perforating MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216800 MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma of macula and skeletal anomalies MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome skos:closeMatch OMIM:216800 coloboma of macula and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma of macula and skeletal anomalies MONDO:0009002 coloboma, ocular, autosomal recessive skos:closeMatch Orphanet:98553 Developmental defect of the eye semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216820 MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009003 achromatopsia 2 skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total MONDO:0009003 achromatopsia 2 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216900 -MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch NCIT:C119991 C1r/C1s Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c1r/c1s deficiency MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch OMIM:216950 complement component c1r/c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1r/c1s deficiency +MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch NCIT:C119991 C1r/C1s Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c1r/c1s deficiency MONDO:0009005 complement component C1r/C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216950 -MONDO:0009006 complement component 2 deficiency skos:closeMatch NCIT:C119992 C2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c2 deficiency MONDO:0009006 complement component 2 deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217000 MONDO:0009006 complement component 2 deficiency skos:closeMatch OMIM:217000 complement component 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c2 deficiency -MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495589 +MONDO:0009006 complement component 2 deficiency skos:closeMatch NCIT:C119992 C2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label c2 deficiency MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217080 +MONDO:0009007 Jalili syndrome skos:closeMatch Orphanet:1873 Jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495589 MONDO:0009007 Jalili syndrome skos:closeMatch OMIM:217080 jalili syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and amelogenesis imperfecta MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, hamartomas of tongue, and polysyndactyly MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch OMIM:217085 congenital heart defects, hamartomas of tongue, and polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, hamartomas of tongue, and polysyndactyly -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217085 -MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931046 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535849 MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535849 -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398621 -MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217085 +MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome skos:closeMatch Orphanet:1338 Heart defect-tongue hamartoma-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931046 +MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ligneous conjunctivitis MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1968804 +MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217090 +MONDO:0009009 hypoplasminogenemia skos:closeMatch Orphanet:722 Hypoplasminogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398621 MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasminogenemia -MONDO:0009009 hypoplasminogenemia skos:closeMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ligneous conjunctivitis MONDO:0009010 aortic arch interruption skos:closeMatch Orphanet:2299 Aortic arch interruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022599 -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217150 -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857576 MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label contractures, congenital, torticollis, and malignant hyperthermia MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch OMIM:217150 contractures, congenital, torticollis, and malignant hyperthermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contractures, congenital, torticollis, and malignant hyperthermia -MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217300 -MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217150 +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome skos:closeMatch Orphanet:2215 Multiple pterygium-malignant hyperthermia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857576 MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 +MONDO:0009014 cornea plana 2 skos:closeMatch OMIM:217300 cornea plana 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cornea plana type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009014 cornea plana 2 skos:closeMatch Orphanet:53691 Congenital cornea plana semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217300 +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217400 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857572 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217400 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and perceptive deafness +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch Orphanet:1490 Corneal dystrophy-perceptive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535473 MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdpd1 -MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy and perceptive deafness MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and sensorineural deafness -MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, band-shaped +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy and perceptive deafness +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome skos:closeMatch OMIM:217400 corneal dystrophy and perceptive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy and perceptive deafness MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, band-shaped -MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217600 +MONDO:0009016 band keratopathy skos:closeMatch OMIM:217500 corneal dystrophy, band-shaped semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, band-shaped MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1622427 -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy +MONDO:0009018 central cloudy dystrophy of François skos:closeMatch Orphanet:98972 Central cloudy dystrophy of François semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217600 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal endothelial dystrophy +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital hereditary endothelial +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217700 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch Orphanet:293603 Congenital hereditary endothelial dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hereditary endothelial dystrophy type ii -MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital hereditary endothelial -MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, corneal -MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, corneal -MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdc1, formerly +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea skos:closeMatch OMIM:217700 corneal endothelial dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal endothelial dystrophy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025406 MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024439 MONDO:0009020 macular corneal dystrophy skos:closeMatch Orphanet:98969 Macular corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217800 -MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and robin sequence +MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, corneal +MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdc1, formerly +MONDO:0009020 macular corneal dystrophy skos:closeMatch OMIM:217800 macular dystrophy, corneal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, corneal MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and robin sequence +MONDO:0009021 Toriello-Carey syndrome skos:closeMatch OMIM:217980 corpus callosum, agenesis of, with facial anomalies and robin sequence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and robin sequence MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217980 MONDO:0009021 Toriello-Carey syndrome skos:closeMatch Orphanet:3338 Toriello-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796184 MONDO:0009022 corpus callosum, agenesis of skos:closeMatch Orphanet:200 Isolated corpus callosum agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated corpus callosum agenesis -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical blindness, retardation, and postaxial polydactyly MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical blindness, retardation, and postaxial polydactyly +MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch OMIM:218010 cortical blindness, retardation, and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical blindness, retardation, and postaxial polydactyly MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218010 MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome skos:closeMatch Orphanet:1389 Cortical blindness-intellectual disability-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857568 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218030 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936861 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342488 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887949 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ame1 +MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol type 11-beta-ketoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apparent mineralocorticoid excess -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch OMIM:218030 apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol type 11-beta-ketoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342488 MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537422 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218030 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d043204 -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apparent mineralocorticoid excess -MONDO:0009025 apparent mineralocorticoid excess skos:closeMatch Orphanet:320 Apparent mineralocorticoid excess semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887949 -MONDO:0009026 Costello syndrome skos:closeMatch OMIM:218040 costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with excess of muscle spindles -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218040 -MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067380 MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0587248 -MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857532 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218040 +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 +MONDO:0009026 Costello syndrome skos:closeMatch OMIM:218040 costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with excess of muscle spindles +MONDO:0009026 Costello syndrome skos:closeMatch Orphanet:3071 Costello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056685 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218090 +MONDO:0009028 Crane-Heise syndrome skos:closeMatch OMIM:218090 crane-heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus +MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857532 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 MONDO:0009028 Crane-Heise syndrome skos:closeMatch Orphanet:1512 Crane-Heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536452 -MONDO:0009028 Crane-Heise syndrome skos:closeMatch OMIM:218090 crane-heise syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410539 MONDO:0009031 craniodiaphyseal dysplasia skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218300 -MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432235 MONDO:0009032 cranioectodermal dysplasia skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sensenbrenner syndrome +MONDO:0009032 cranioectodermal dysplasia skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432235 MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218340 -MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy syndrome +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 +MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857512 MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome +MONDO:0009033 temtamy syndrome skos:closeMatch OMIM:218340 temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy syndrome MONDO:0009033 temtamy syndrome skos:closeMatch NCIT:C148371 Temtamy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy syndrome -MONDO:0009033 temtamy syndrome skos:closeMatch Orphanet:1777 Temtamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536959 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dyssynostosis with short stature -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dyssynostosis with short stature -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218350 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536455 MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis -MONDO:0009034 craniofacial dyssynostosis skos:closeMatch Orphanet:1516 Non-syndromic bilambdoid and sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857511 +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial dyssynostosis with short stature +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dyssynostosis with short stature +MONDO:0009034 craniofacial dyssynostosis skos:closeMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral lambdoid and sagittal synostosis MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1522 Craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch Orphanet:2872 Cardiocranial syndrome, Pfeiffer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218450 +MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfeiffer cardiocranial syndrome MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniostenosis, sagittal, with congenital heart disorder, mental deficiency, and mandibular ankylosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009036 cardiocranial syndrome, Pfeiffer type skos:closeMatch OMIM:218450 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfeiffer cardiocranial syndrome -MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis with fibular aplasia MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with fibular aplasia -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with radial defects -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-radial aplasia syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome +MONDO:0009038 craniosynostosis-fibular aplasia syndrome skos:closeMatch OMIM:218550 craniosynostosis with fibular aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis with fibular aplasia MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baller-gerold syndrome +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265308 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218600 -MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265308 -MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857471 +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baller-gerold syndrome +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baller-gerold syndrome +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with radial defects +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch OMIM:218600 baller-gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis-radial aplasia syndrome +MONDO:0009039 Baller-Gerold syndrome skos:closeMatch Orphanet:1225 Baller-Gerold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536788 MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 +MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857471 MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218670 MONDO:0009042 craniotelencephalic dysplasia skos:closeMatch Orphanet:1528 Craniotelencephalic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535597 MONDO:0009043 generalized resistance to thyroid hormone skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym refetoff syndrome -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 -MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011386 MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011386 MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crigler-najjar syndrome +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 MONDO:0009044 Crigler-Najjar syndrome skos:exactMatch OMIM:218800 crigler-najjar syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crigler-najjar syndrome MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010324 +MONDO:0009044 Crigler-Najjar syndrome skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003414 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218900 MONDO:0009045 cataract-nephropathy-encephalopathy syndrome skos:closeMatch Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795914 -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome +MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fraser syndrome MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos with other malformations +MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome +MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265233 +MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fraser syndrome -MONDO:0009046 Fraser syndrome skos:exactMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fraser syndrome MONDO:0009046 Fraser syndrome skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058497 -MONDO:0009046 Fraser syndrome skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265233 MONDO:0009046 Fraser syndrome skos:closeMatch NCIT:C98908 Cryptophthalmos Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptophthalmos syndrome MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cryptorchidism, unilateral or bilateral MONDO:0009047 cryptorchidism skos:closeMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptorchidism, unilateral or bilateral MONDO:0009048 curved nail of fourth toe skos:closeMatch OMIM:219070 curved nail of fourth toe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym claw-like fingers and toes +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 +MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219090 MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch NCIT:C113210 Cushing Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cushing disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219090 -MONDO:0009050 Cushing disease due to pituitary adenoma skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857449 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857449 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536224 MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch Orphanet:2881 Cutaneous photosensitivity-lethal colitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219095 -MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous photosensitivity and colitis, lethal MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous photosensitivity and colitis, lethal -MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219100 +MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome skos:closeMatch OMIM:219095 cutaneous photosensitivity and colitis, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous photosensitivity and colitis, lethal MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch OMIM:219100 cutis laxa, autosomal recessive, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, autosomal recessive +MONDO:0009052 cutis laxa, autosomal recessive, type 1A skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219100 +MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, corneal clouding, and mental retardation MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219150 -MONDO:0009053 ALDH18A1-related de Barsy syndrome skos:closeMatch OMIM:219150 cutis laxa, autosomal recessive, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, corneal clouding, and mental retardation MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch Orphanet:90350 Autosomal recessive cutis laxa type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 MONDO:0009054 autosomal recessive cutis laxa type 2, classic type skos:closeMatch OMIM:219200 cutis laxa, autosomal recessive, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcl2 MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet:1556 Cutis marmorata telangiectatica congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219250 @@ -9099,514 +9105,514 @@ MONDO:0009055 cutis marmorata telangiectatica congenita skos:closeMatch Orphanet MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch Orphanet:357225 Primary non-essential cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219300 MONDO:0009056 cutis verticis gyrata and intellectual disability skos:closeMatch OMIM:219300 cutis verticis gyrata and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvg/mr MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268616 -MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219500 MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220993 -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 +MONDO:0009058 cystathioninuria skos:closeMatch Orphanet:212 Cystathioninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219500 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219700 -MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010674 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011762 +MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010674 +MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 MONDO:0009061 cystic fibrosis skos:closeMatch Orphanet:586 Cystic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003550 -MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation +MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch OMIM:219721 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome skos:closeMatch Orphanet:2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219721 -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219730 MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch Orphanet:443988 Ventriculomegaly-cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857423 -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931013 -MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219750 -MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, ocular nonnephropathic -MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, adult nonnephropathic +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009063 ventriculomegaly-cystic kidney disease skos:closeMatch OMIM:219730 ventriculomegaly with cystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly with cystic kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cystinosis, adult nonnephropathic +MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, adult nonnephropathic MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, benign nonnephropathic +MONDO:0009064 ocular cystinosis skos:closeMatch OMIM:219750 cystinosis, adult nonnephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, ocular nonnephropathic +MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219750 +MONDO:0009064 ocular cystinosis skos:closeMatch Orphanet:411641 Ocular cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931013 MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 +MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, intermediate MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268626 MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch Orphanet:411634 Juvenile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219900 -MONDO:0009066 juvenile nephropathic cystinosis skos:closeMatch OMIM:219900 cystinosis, late-onset juvenile or adolescent nephropathic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, intermediate -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 MONDO:0009067 cystinuria skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:93612 Cystinuria type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 +MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003555 MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010691 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011778 -MONDO:0009067 cystinuria skos:closeMatch Orphanet:214 Cystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220100 -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220110 -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated cytochrome c oxidase deficiency +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268237 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:closeMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291386 MONDO:0009070 D-glyceric aciduria skos:closeMatch OMIM:220120 d-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycerate kinase deficiency -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220120 -MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291386 -MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 +MONDO:0009070 D-glyceric aciduria skos:closeMatch Orphanet:941 D-glyceric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535767 MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010964 +MONDO:0009071 hereditary renal hypouricemia skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220200 MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated dandy-walker malformation -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch OMIM:220200 dandy-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation MONDO:0009072 Dandy-Walker syndrome skos:closeMatch NCIT:C75012 Dandy-Walker Malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation -MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220200 -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220210 -MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3c syndrome +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch OMIM:220200 dandy-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation +MONDO:0009072 Dandy-Walker syndrome skos:closeMatch Orphanet:217 Isolated Dandy-Walker malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010964 MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ritscher-schinzel syndrome +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220210 MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3c syndrome +MONDO:0009073 Ritscher-Schinzel syndrome 1 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3c syndrome MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch OMIM:220219 dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy -MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220219 MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857352 +MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome skos:closeMatch Orphanet:1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220219 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857351 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220220 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 -MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with postaxial polydactyly +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535771 MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with postaxial polydactyly -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009075 Dandy-Walker malformation-postaxial polydactyly syndrome skos:closeMatch OMIM:220220 dandy-walker malformation with postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with postaxial polydactyly MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb6 -MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220290 MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb3 +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doors -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drc syndrome +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch NCIT:C129022 Deafness, Autosomal Recessive 1A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, digenic, gjb2/gjb6 +MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A skos:closeMatch OMIM:220290 deafness, autosomal recessive 1a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1a semapv:RegularExpressionReplacement +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eronen syndrome MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly due to absence of distal phalanges MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitorenocerebral syndrome -MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eronen syndrome -MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drc syndrome +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome +MONDO:0009079 DOORS syndrome skos:closeMatch OMIM:220500 deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doors MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:79500 DOORS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009079 DOORS syndrome skos:closeMatch Orphanet:3231 Deafness-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220500 MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with split hands and feet -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split hand-split foot-deafness syndrome -MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220600 +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch OMIM:220600 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 1 with sensorineural hearing loss, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857344 -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221200 -MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness and myopia +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220600 +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss skos:closeMatch Orphanet:71271 Split hand-split foot-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split hand-split foot-deafness syndrome MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and myopia -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221300 +MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch OMIM:221200 deafness and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness and myopia +MONDO:0009082 high myopia-sensorineural deafness syndrome skos:closeMatch Orphanet:363396 High myopia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221200 MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857341 -MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with malformed external ear +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch Orphanet:3216 Conductive deafness-malformed external ear syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221300 MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with malformed external ear +MONDO:0009083 conductive deafness-malformed external ear syndrome skos:closeMatch OMIM:221300 deafness, conductive, with malformed external ear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with malformed external ear MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with ptosis and skeletal anomalies MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch OMIM:221320 deafness, conductive, with ptosis and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, conductive, with ptosis and skeletal anomalies MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535993 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221320 MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome skos:closeMatch Orphanet:3236 Conductive deafness-ptosis-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857340 -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857339 -MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221350 MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with vitiligo and achalasia MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch OMIM:221350 deafness, congenital, with vitiligo and achalasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with vitiligo and achalasia -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy -MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221400 +MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857339 +MONDO:0009085 deafness-vitiligo-achalasia syndrome skos:closeMatch Orphanet:3239 Deafness-vitiligo-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221350 MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857338 -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857333 -MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221740 +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221400 +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy +MONDO:0009086 deafness-small bowel diverticulosis-neuropathy syndrome skos:closeMatch OMIM:221400 deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538049 +MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857333 +MONDO:0009089 deafness-oligodontia syndrome skos:closeMatch Orphanet:3230 Deafness-oligodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221740 MONDO:0009090 hearing loss, sensorineural, autosomal-mitochondrial type skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221745 +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with pituitary dwarfism MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch Orphanet:231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221750 MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with rigid cervical spine -MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities skos:closeMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with pituitary dwarfism +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile dementia with bone cysts +MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasu-hakola disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain-bone-fat disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, prefrontal, with bone cysts MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857316 MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:closeMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, progressive, with lipomembranous polycystic osteodysplasia -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasu-hakola disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch OMIM:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym presenile dementia with bone cysts +MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857314 +MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221790 MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538220 -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221790 -MONDO:0009093 dermatoleukodystrophy skos:closeMatch Orphanet:1659 Dermatoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857314 -MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221800 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432288 +MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch Orphanet:79149 Dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221800 MONDO:0009094 dermochondrocorneal dystrophy skos:closeMatch OMIM:221800 dermochondrocorneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym francois syndrome -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221810 +MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857301 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch OMIM:221810 dermatoosteolysis, kirghizian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kirghizian dermatoosteolysis +MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221810 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 -MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857301 MONDO:0009095 dermatoosteolysis, Kirghizian type skos:closeMatch Orphanet:1657 Dermatoosteolysis, Kirghizian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535373 MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221900 -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent fetal vasculature -MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment and falciform detachment MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment, nonsyndromic congenital +MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal nonattachment and falciform detachment +MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive skos:closeMatch OMIM:221900 persistent hyperplastic primary vitreous, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent fetal vasculature MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch OMIM:221995 diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome skos:closeMatch Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221995 MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009100 type 1 diabetes mellitus 1 skos:exactMatch OMIM:222100 iia 1 diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222300 +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wfs +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222300 +MONDO:0009101 Wolfram syndrome 1 skos:closeMatch OMIM:222300 wolfram syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009102 diaminopentanuria skos:closeMatch OMIM:222350 diaminopentanuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystine-lysinuria MONDO:0009103 diaphragmatic hernia 2 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222400 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 -MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222448 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536390 +MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222448 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch Orphanet:2143 Donnai-Barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857277 MONDO:0009104 Donnai-Barrow syndrome skos:closeMatch OMIM:222448 donnai-barrow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trichohepatoenteric syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009105 trichohepatoenteric syndrome skos:exactMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009105 trichohepatoenteric syndrome skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857276 -MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222500 MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011999 +MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222500 MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:1671 Split cord malformation type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012750 MONDO:0009106 diastematomyelia skos:closeMatch Orphanet:573278 Split cord malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split cord malformation -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222600 -MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dwarfism MONDO:0009107 diastrophic dysplasia skos:closeMatch OMIM:222600 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dysplasia, broad bone-platyspondylic variant +MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diastrophic dwarfism +MONDO:0009107 diastrophic dysplasia skos:closeMatch Orphanet:628 Diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222600 MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009108 hyperdibasic aminoaciduria type 1 skos:closeMatch OMIM:222690 dibasic amino aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009109 lysinuric protein intolerance skos:closeMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058300 -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance -MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268647 +MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance skos:closeMatch NCIT:C121563 Lysinuric Protein Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222700 -MONDO:0009109 lysinuric protein intolerance skos:closeMatch OMIM:222700 lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dibasic amino aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch OMIM:222730 dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect -MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857253 +MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lysinuric protein intolerance +MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058300 +MONDO:0009109 lysinuric protein intolerance skos:closeMatch Orphanet:470 Lysinuric protein intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268647 MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch OMIM:222730 dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate-aspartate transport defect MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222730 MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536171 +MONDO:0009110 dicarboxylic aminoaciduria skos:closeMatch Orphanet:2195 Dicarboxylic aminoaciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857253 +MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpys deficiency MONDO:0009111 dihydropyrimidinuria skos:closeMatch OMIM:222748 dihydropyrimidinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dph deficiency -MONDO:0009111 dihydropyrimidinuria skos:closeMatch Orphanet:38874 Dihydropyrimidinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222748 -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857242 -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpgm deficiency -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglyceromutase deficiency -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch NCIT:C131638 Bisphosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bisphosphoglycerate mutase deficiency +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:309796 Rhizomelic chondrodysplasia punctata type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222765 MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglycerate mutase deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diphosphoglycerate mutase deficiency of erythrocyte MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bpgm deficiency MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222800 -MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diphosphoglycerate mutase deficiency of erythrocyte -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym si deficiency -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sucrase-isomaltase deficiency, congenital +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpgm deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch NCIT:C131638 Bisphosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bisphosphoglycerate mutase deficiency +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency skos:closeMatch OMIM:222800 erythrocytosis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bisphosphoglyceromutase deficiency MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrase-isomaltase deficiency, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose intolerance, congenital MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sucrose-isomaltose malabsorption, congenital -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sucrase-isomaltase deficiency, congenital +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch OMIM:222900 sucrase-isomaltase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym si deficiency MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283620 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066387 -MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222900 MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactase deficiency, congenital -MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223000 -MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538139 +MONDO:0009114 congenital sucrase-isomaltase deficiency skos:closeMatch Orphanet:35122 Congenital sucrase-isomaltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222900 MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alactasia, congenital +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disaccharide intolerance type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactase deficiency, congenital MONDO:0009115 congenital lactase deficiency skos:closeMatch OMIM:223000 lactase deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase deficiency, congenital -MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857227 +MONDO:0009115 congenital lactase deficiency skos:closeMatch Orphanet:53690 Congenital lactase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223000 MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223330 +MONDO:0009120 diverticulosis of bowel, hernia, and retinal detachment skos:closeMatch Orphanet:2464 Marfanoid syndrome, De Silva type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857227 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857226 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch Orphanet:3439 Von Voss-Cherstvoy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223340 MONDO:0009121 von Voss-Cherstvoy syndrome skos:closeMatch OMIM:223340 dk phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phocomelia, thrombocytopenia, encephalocele, urogenital malformations MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535600 +MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223360 MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch OMIM:223360 orthostatic hypotension 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine beta-hydroxylase deficiency, congenital -MONDO:0009123 dopamine beta-hydroxylase deficiency skos:closeMatch Orphanet:230 Dopamine beta-hydroxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342687 -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059589 -MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223370 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 +MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059589 MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535718 +MONDO:0009124 Dubowitz syndrome skos:closeMatch Orphanet:235 Dubowitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175691 +MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223400 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266174 -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013812 MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535720 -MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223400 +MONDO:0009126 duodenal atresia skos:closeMatch Orphanet:1203 Duodenal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013812 MONDO:0009126 duodenal atresia skos:closeMatch NCIT:C78260 Duodenal Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duodenal stenosis MONDO:0009128 dwarfism, intellectual disability, and eye abnormality skos:closeMatch OMIM:223540 dwarfism, mental retardation, and eye abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mollica syndrome -MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223800 MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265286 -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 +MONDO:0009130 Dyggve-Melchior-Clausen disease skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223800 +MONDO:0009131 Riley-Day syndrome skos:closeMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysautonomia, familial MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013364 -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039179 +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 semapv:RegularExpressionReplacement +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:223900 +MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039179 MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004402 -MONDO:0009131 Riley-Day syndrome skos:closeMatch Orphanet:1764 Familial dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 3 semapv:RegularExpressionReplacement -MONDO:0009131 Riley-Day syndrome skos:closeMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysautonomia, familial MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535731 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysequilibrium syndrome MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013140 -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 -MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 2 semapv:RegularExpressionReplacement MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch OMIM:224100 anemia, congenital dyserythropoietic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary erythroblastic multinuclearity with positive acidified-serum test -MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cda type 2 semapv:RegularExpressionReplacement +MONDO:0009134 congenital dyserythropoietic anemia type 2 skos:closeMatch Orphanet:98873 Congenital dyserythropoietic anemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224100 MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 +MONDO:0009135 anemia, congenital dyserythropoietic, type 1a skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224120 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224230 MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432262 MONDO:0009138 dysosteosclerosis skos:closeMatch Orphanet:1782 Dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224300 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224400 +MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddrd MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432209 MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch Orphanet:156731 Dyssegmental dysplasia, Rolland-Desbuquois type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537999 -MONDO:0009139 dyssegmental dysplasia, Rolland-Desbuquois type skos:closeMatch OMIM:224400 dyssegmental dysplasia, rolland-desbuquois iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddrd MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia, silverman-handmaker type MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia skos:closeMatch Orphanet:1865 Dyssegmental dysplasia, Silverman-Handmaker type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224410 -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224500 MONDO:0009141 torsion dystonia 2 skos:closeMatch Orphanet:99657 Primary dystonia, DYT2 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt2 type -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, absent patellae, micrognathia syndrome +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009141 torsion dystonia 2 skos:closeMatch OMIM:224500 dystonia 2, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 2, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ear, patella, short stature syndrome -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, absent patellae, micrognathia syndrome +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224690 MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome -MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014075 +MONDO:0009143 Meier-Gorlin syndrome 1 skos:closeMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224700 +MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014075 MONDO:0009144 Ebstein anomaly skos:closeMatch Orphanet:1880 Ebstein malformation of the tricuspid valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013481 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schopf-schulz-passarge syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224750 -MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schopf-schulz-passarge syndrome MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schopf-schulz-passarge syndrome +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schöpf-schulz-passarge syndrome MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eccrine tumors with ectodermal dysplasia -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 -MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224800 +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224750 +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch Orphanet:50944 Schöpf-Schulz-Passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857069 +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome skos:closeMatch OMIM:224750 schopf-schulz-passarge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schopf-schulz-passarge syndrome MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia and neurosensory deafness MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch OMIM:224800 ectodermal dysplasia and neurosensory deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia and neurosensory deafness +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857068 +MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome skos:closeMatch Orphanet:1883 Ectodermal dysplasia-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224800 +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224900 -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum -MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225040 MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857053 -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia -MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch Orphanet:1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225040 +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum +MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome skos:closeMatch OMIM:225040 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch Orphanet:1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225050 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 -MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia +MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome skos:closeMatch OMIM:225050 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch OMIM:225060 cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:3253 Cleft lip/palate-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 +MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225060 MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225100 -MONDO:0009153 ectopia lentis et pupillae skos:closeMatch OMIM:225200 ectopia lentis et pupillae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis with ectopia of pupil MONDO:0009153 ectopia lentis et pupillae skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225200 +MONDO:0009153 ectopia lentis et pupillae skos:closeMatch OMIM:225200 ectopia lentis et pupillae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis with ectopia of pupil MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225250 MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome MONDO:0009155 EEM syndrome skos:closeMatch OMIM:225280 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome MONDO:0009155 EEM syndrome skos:closeMatch Orphanet:1897 EEM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225280 -MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857040 MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225290 -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009156 ectrodactyly-polydactyly syndrome skos:closeMatch Orphanet:1892 Ectrodactyly-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857040 +MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225300 MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009157 split hand-foot malformation 6 skos:closeMatch OMIM:225300 split-hand/foot malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, autosomal recessive -MONDO:0009157 split hand-foot malformation 6 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225300 -MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fn abnormality +MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type skos:closeMatch OMIM:225310 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-valvular ehlers-danlos syndrome +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-valvular eds MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cveds MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-valvular eds -MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-valvular ehlers-danlos syndrome -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis eds -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatosparaxis ehlers-danlos syndrome MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deds MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 -MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatosparaxis ehlers-danlos syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesoectodermal dysplasia -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 -MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008724 +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch OMIM:225410 ehlers-danlos syndrome, dermatosparaxis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch Orphanet:1901 Dermatosparaxis Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatosparaxis eds MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004613 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225500 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013903 +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008724 MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesoectodermal dysplasia +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ellis-van creveld syndrome +MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch OMIM:225500 ellis-van creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome MONDO:0009162 Ellis-van Creveld syndrome skos:closeMatch NCIT:C84684 Ellis-Van Creveld Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ellis-van creveld syndrome MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts skos:closeMatch OMIM:225740 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyon syndrome +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree encephalitis +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis +MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicardi-goutieres syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ags MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225750 MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicardi-goutieres syndrome type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis -MONDO:0009165 Aicardi-Goutieres syndrome 1 skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cree encephalitis -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856974 -MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225753 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856974 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536716 +MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch Orphanet:166063 Pontocerebellar hypoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225753 MONDO:0009166 pontocerebellar hypoplasia type 4 skos:closeMatch OMIM:225753 pontocerebellar hypoplasia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856973 MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch Orphanet:1261 Bonnemann-Meinecke-Reich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225755 MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration MONDO:0009167 Bonnemann-Meinecke-Reich syndrome skos:closeMatch OMIM:225755 encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration -MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225790 MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fowler syndrome +MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225790 MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome -MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler syndrome -MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome MONDO:0009168 Fowler syndrome skos:closeMatch Orphanet:221126 Fowler vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071718 -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014117 +MONDO:0009168 Fowler syndrome skos:closeMatch OMIM:225790 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome +MONDO:0009168 Fowler syndrome skos:exactMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fowler syndrome +MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endomyocardial fibroelastosis MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226000 +MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014117 MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014663 -MONDO:0009169 endocardial fibroelastosis skos:closeMatch Orphanet:2022 Endocardial fibroelastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endomyocardial fibroelastosis -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enterokinase deficiency +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropeptidase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enterokinase deficiency MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226200 MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch Orphanet:168601 Congenital enteropathy due to enteropeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268416 -MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropeptidase deficiency -MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy -MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy -MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency skos:closeMatch OMIM:226200 enterokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enterokinase deficiency MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy MONDO:0009174 protein-losing enteropathy skos:closeMatch Orphanet:566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226300 -MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226350 +MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy +MONDO:0009174 protein-losing enteropathy skos:closeMatch OMIM:226300 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264005 +MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226350 MONDO:0009175 eosinophilic fasciitis skos:closeMatch Orphanet:3165 Eosinophilic fasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014954 -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014522 -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NCIT:C113445 Ever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ever -MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052339 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014522 MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004819 +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052339 MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epidermodysplasia verruciformis +MONDO:0009176 epidermodysplasia verruciformis skos:closeMatch NCIT:C113445 Ever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ever MONDO:0009176 epidermodysplasia verruciformis skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epidermodysplasia verruciformis -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856969 -MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226440 MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, late-onset localized junctional, with mental retardation MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, late-onset localized junctional, with mental retardation +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226440 +MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome skos:closeMatch Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856969 MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa with congenital deafness MONDO:0009178 epidermolysis bullosa dystrophica Neurotrophica skos:closeMatch OMIM:226500 epidermolysis bullosa dystrophica neurotrophica semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa progressiva, recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, generalized severe, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym severe generalized rdeb MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica inversa, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, autosomal recessive, localisata variant +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophic epidermolysis bullosa, autosomal recessive +MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa dystrophica, generalized severe, autosomal recessive MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch NCIT:C156446 Epidermolysis Bullosa Dystrophica, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa dystrophica, autosomal recessive -MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym severe generalized rdeb MONDO:0009179 recessive dystrophic epidermolysis bullosa skos:closeMatch Orphanet:79409 Recessive dystrophic epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226600 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa inversa MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, severe nonlethal -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, progressive +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, localisata variant +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis, progressive MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-i MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, generalized atrophic benign +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch OMIM:619787 epidermolysis bullosa, junctional 4, intermediate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, localisata variant MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79402 Intermediate generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:251393 Localized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226650 -MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label junctional epidermolysis bullosa inversa +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym md-ebs -MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931072 MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226670 -MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226700 +MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy skos:closeMatch Orphanet:257 Epidermolysis bullosa simplex with muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931072 MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym junctional epidermolysis bullosa, herlitz type -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, junctional, with pyloric atresia +MONDO:0009182 junctional epidermolysis bullosa Herlitz type skos:closeMatch Orphanet:79404 Severe generalized junctional epidermolysis bullosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226700 MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226730 MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch Orphanet:79403 Junctional epidermolysis bullosa with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856934 +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis with pyloric atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jeb-pa -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with gastrointestinal atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eb-pa-acc -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with gastrointestinal atresia -MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa junctionalis with pyloric atresia -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226750 +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch OMIM:226730 epidermolysis bullosa, junctional 5b, with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia skos:closeMatch NCIT:C162474 Epidermolysis Bullosa, Junctional, with Pyloric Atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, junctional, with pyloric atresia MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kohlschutter-tonz syndrome -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter-tonz syndrome -MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406740 MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, dementia, and amelogenesis imperfecta +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter-tonz syndrome MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kohlschutter syndrome +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226750 +MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch Orphanet:1946 Amelocerebrohypohidrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406740 MONDO:0009185 amelocerebrohypohidrotic syndrome skos:closeMatch OMIM:226750 kohlschutter-tonz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy and yellow teeth -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy with bilateral occipital calcifications -MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy with bilateral occipital calcifications MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226810 +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy with bilateral occipital calcifications +MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome skos:closeMatch OMIM:226810 epilepsy with bilateral occipital calcifications semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy with bilateral occipital calcifications +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856929 +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy-telangiectasia +MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226850 -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy-telangiectasia MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch OMIM:226850 epilepsy-telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy-telangiectasia -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856929 -MONDO:0009188 epilepsy-telangiectasia syndrome skos:closeMatch Orphanet:1951 Epilepsy-telangiectasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535497 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847593 +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with clubfoot +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, autosomal recessive +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with bilayered patellae MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 4 semapv:RegularExpressionReplacement -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with clubfoot -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch OMIM:226900 epiphyseal dysplasia, multiple, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, autosomal recessive -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062600 -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796021 -MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226960 +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535504 +MONDO:0009189 multiple epiphyseal dysplasia type 4 skos:closeMatch Orphanet:93307 Multiple epiphyseal dysplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226900 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537038 -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with early-onset diabetes mellitus -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with early-onset diabetes mellitus -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome -MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome +MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796021 +MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226960 +MONDO:0009191 Lowry-Wood syndrome skos:closeMatch Orphanet:1824 Lowry-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062600 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226980 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432217 +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch Orphanet:1667 Wolcott-Rallison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536739 MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym med-iddm syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-med syndrome +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with early-onset diabetes mellitus +MONDO:0009192 Wolcott-Rallison syndrome skos:closeMatch OMIM:226980 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with early-onset diabetes mellitus MONDO:0009194 immunodeficiency 32B skos:closeMatch OMIM:226990 immunodeficiency 32b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus, susceptibility to chronic infection by MONDO:0009194 immunodeficiency 32B skos:closeMatch Orphanet:2566 Chronic Epstein-Barr virus infection syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:226990 +MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 +MONDO:0009196 ermine phenotype skos:closeMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym black locks with albinism and deafness syndrome MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227010 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 -MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856899 MONDO:0009196 ermine phenotype skos:closeMatch Orphanet:999 Ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535508 -MONDO:0009196 ermine phenotype skos:closeMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym black locks with albinism and deafness syndrome -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238478 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroblastopenia, transient MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroblastopenia, transient +MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:227050 transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tec MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch OMIM:600583 TEC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tec -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227050 -MONDO:0009197 transient erythroblastopenia of childhood skos:closeMatch Orphanet:98871 Transient erythroblastopenia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536980 +MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, lethal congenital +MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, lethal congenital MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 -MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227090 MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535513 -MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, lethal congenital -MONDO:0009198 congenital lethal erythroderma skos:closeMatch OMIM:227090 erythroderma, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, lethal congenital +MONDO:0009198 congenital lethal erythroderma skos:closeMatch Orphanet:1954 Congenital lethal erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227090 MONDO:0009199 ethanolaminosis skos:closeMatch OMIM:227150 ethanolaminosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethanolamine kinase deficiency -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227210 -MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856896 MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eyebrows, duplication of, with stretchable skin and syndactyly MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyebrows, duplication of, with stretchable skin and syndactyly -MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism with multiple malformations +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856896 +MONDO:0009200 eyebrow duplication-syndactyly syndrome skos:closeMatch Orphanet:3172 Eyebrow duplication-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227210 MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism with multiple malformations +MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch OMIM:227255 facial dysmorphism with multiple malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism with multiple malformations MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931219 MONDO:0009202 Thakker-Donnai syndrome skos:closeMatch Orphanet:1780 Thakker-Donnai syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227255 MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch OMIM:227260 focal facial dermal dysplasia 3, setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bitemporal forceps marks syndrome @@ -9616,1410 +9622,1410 @@ MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:18 MONDO:0009203 focal facial dermal dysplasia type III skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227260 MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227270 MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch Orphanet:1972 Lethal faciocardiomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856891 -MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciocardiomelic dysplasia, lethal MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciocardiomelic dysplasia, lethal -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795936 -MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227280 +MONDO:0009204 lethal faciocardiomelic dysplasia skos:closeMatch OMIM:227270 faciocardiomelic dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciocardiomelic dysplasia, lethal MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 +MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227280 +MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795936 MONDO:0009205 faciocardiorenal syndrome skos:closeMatch Orphanet:1973 Faciocardiorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536388 -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227300 MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch OMIM:227300 factor 5 and factor viii, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227300 MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227310 MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor skos:closeMatch OMIM:227310 factor 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 and factor viii, combined deficiency of, with normal protein c and protein c inhibitor semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciodigitogenital syndrome, autosomal recessive MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label faciodigitogenital syndrome, autosomal recessive +MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch OMIM:227330 faciodigitogenital syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciodigitogenital syndrome, autosomal recessive MONDO:0009209 autosomal recessive faciodigitogenital syndrome skos:closeMatch Orphanet:1974 Autosomal recessive faciodigitogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227330 MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym owren parahemophilia -MONDO:0009210 congenital factor V deficiency skos:closeMatch NCIT:C131738 Factor V Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor v deficiency -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labile factor deficiency -MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227400 -MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015499 MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048930 +MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015499 +MONDO:0009210 congenital factor V deficiency skos:closeMatch Orphanet:326 Congenital factor V deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227400 +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labile factor deficiency +MONDO:0009210 congenital factor V deficiency skos:closeMatch NCIT:C131738 Factor V Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor v deficiency MONDO:0009210 congenital factor V deficiency skos:closeMatch OMIM:227400 factor 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 5 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227500 -MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016079 -MONDO:0009211 congenital factor VII deficiency skos:closeMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor vii deficiency -MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f7 deficiency MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 7 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009211 congenital factor VII deficiency skos:closeMatch OMIM:227500 factor 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f7 deficiency +MONDO:0009211 congenital factor VII deficiency skos:closeMatch NCIT:C131631 Factor VII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor vii deficiency +MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227500 +MONDO:0009211 congenital factor VII deficiency skos:closeMatch Orphanet:327 Congenital factor VII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016079 MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227600 +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f10 deficiency MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 10 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009212 congenital factor X deficiency skos:closeMatch NCIT:C131632 Factor X Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor x deficiency -MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f10 deficiency +MONDO:0009212 congenital factor X deficiency skos:closeMatch OMIM:227600 factor 10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stuart-prower factor deficiency -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 +MONDO:0009212 congenital factor X deficiency skos:closeMatch Orphanet:328 Congenital factor X deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227600 MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facc -MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group c +MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch OMIM:227645 fanconi anemia, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c +MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227645 MONDO:0009213 Fanconi anemia complementation group C skos:closeMatch NCIT:C125704 Fanconi Anemia, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group c -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227646 -MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch NCIT:C125706 Fanconi Anemia, Complementation Group D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d2 MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad2 -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi anemia +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch NCIT:C125706 Fanconi Anemia, Complementation Group D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d2 +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227646 +MONDO:0009214 Fanconi anemia complementation group D2 skos:closeMatch OMIM:227646 fanconi anemia, complementation group d2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C62505 Fanconi Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group a MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, estren-dameshek variant -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi pancytopenia MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C125702 Fanconi Anemia, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group a -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch NCIT:C62505 Fanconi Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227650 -MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi anemia +MONDO:0009215 Fanconi anemia complementation group A skos:closeMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estren-dameshek variant of fanconi pancytopenia +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-phlorizin diabetes MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with fanconi nephropathy MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic glycogenosis with amino aciduria and glucosuria MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome -MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis with renal fanconi syndrome +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudo-phlorizin diabetes MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch NCIT:C168998 Glycogen Storage Disease Type XI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type xi semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch Orphanet:2088 Fanconi-Bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:227810 +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ac deficiency MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramidase deficiency MONDO:0009218 Farber lipogranulomatosis skos:closeMatch OMIM:228000 farber lipogranulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-laurylsphingosine deacylase deficiency -MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268255 MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228000 +MONDO:0009218 Farber lipogranulomatosis skos:closeMatch Orphanet:333 Farber disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055577 MONDO:0009219 fascial dystrophy, congenital skos:closeMatch Orphanet:2833 Stiff skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228020 -MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty metamorphosis of viscera MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steatosis of liver +MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 +MONDO:0009220 visceral steatosis, congenital skos:closeMatch OMIM:228100 visceral steatosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty metamorphosis of viscera MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068448 -MONDO:0009221 femur-fibula-ulna complex skos:closeMatch OMIM:228200 femur-fibula-ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffu syndrome +MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228200 -MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label femur, unilateral bifid, with monodactylous ectrodactyly +MONDO:0009221 femur-fibula-ulna complex skos:closeMatch OMIM:228200 femur-fibula-ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffu syndrome +MONDO:0009221 femur-fibula-ulna complex skos:closeMatch Orphanet:2019 Femur-fibula-ulna complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537918 MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femur, unilateral bifid, with monodactylous ectrodactyly +MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch OMIM:228250 femur, unilateral bifid, with monodactylous ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label femur, unilateral bifid, with monodactylous ectrodactyly MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228250 MONDO:0009222 Gollop-Wolfgang complex skos:closeMatch Orphanet:1986 Gollop-Wolfgang complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856789 MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia skos:closeMatch Orphanet:325448 Leydig cell hypoplasia due to LHB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228300 MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal iodine deficiency disorder -MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal iodine deficiency disorder -MONDO:0009224 fetal iodine syndrome skos:closeMatch NCIT:C98921 Endemic Cretinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endemic cretinism -MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228355 MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic cretinism +MONDO:0009224 fetal iodine syndrome skos:closeMatch Orphanet:1910 Fetal iodine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228355 +MONDO:0009224 fetal iodine syndrome skos:closeMatch NCIT:C98921 Endemic Cretinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endemic cretinism +MONDO:0009224 fetal iodine syndrome skos:closeMatch OMIM:228355 fetal iodine deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal iodine deficiency disorder MONDO:0009226 fibrochondrogenesis 1 skos:closeMatch Orphanet:2021 Fibrochondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228520 +MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228550 MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, congenital generalized MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch OMIM:228550 myofibromatosis, infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibromatosis, juvenile -MONDO:0009227 myofibromatosis, infantile, 1 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228550 -MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856761 MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228560 +MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch Orphanet:2025 Gingival fibromatosis-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856761 MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with distinctive facies MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome skos:closeMatch OMIM:228560 fibromatosis, gingival, with distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibromatosis, gingival, with distinctive facies +MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch OMIM:228600 hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis, systemic MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2028 Juvenile hyaline fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228600 -MONDO:0009229 hyaline fibromatosis syndrome skos:closeMatch OMIM:228600 hyaline fibromatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis, systemic +MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retroperitoneal fibrosis, familial MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch OMIM:228800 fibrosclerosis, multifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mediastinal fibrosis, familial -MONDO:0009230 fibrosclerosis, multifocal skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228800 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228900 -MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856738 MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia-complex brachydactyly syndrome -MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856728 +MONDO:0009231 acromesomelic dysplasia 2B skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856738 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228930 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 +MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856728 MONDO:0009232 Fuhrmann syndrome skos:closeMatch Orphanet:2854 Fuhrmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538189 MONDO:0009232 Fuhrmann syndrome skos:closeMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly MONDO:0009232 Fuhrmann syndrome skos:closeMatch OMIM:228930 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibuloulnar aplasia or hypoplasia with renal abnormalities -MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibuloulnar aplasia or hypoplasia with renal abnormalities MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228940 MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch Orphanet:2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856727 -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, total -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fitzgerald trait -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmwk deficiency +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibuloulnar aplasia or hypoplasia with renal abnormalities +MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome skos:closeMatch OMIM:228940 fibuloulnar aplasia or hypoplasia with renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibuloulnar aplasia or hypoplasia with renal abnormalities MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight and low molecular weight -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flaujeac trait MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams trait +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fitzgerald trait +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, total +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kininogen deficiency, high molecular weight MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch Orphanet:483 Congenital high-molecular-weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228960 -MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flaujeac trait -MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856718 +MONDO:0009234 congenital high-molecular-weight kininogen deficiency skos:closeMatch OMIM:228960 high molecular weight kininogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmwk deficiency MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228980 +MONDO:0009235 familial benign flecked retina skos:closeMatch Orphanet:363989 Familial benign flecked retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856718 MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina, familial benign MONDO:0009235 familial benign flecked retina skos:closeMatch OMIM:228980 fleck retina, familial benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina, familial benign MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fleck retina of kandori +MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina of kandori MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271257 MONDO:0009236 Kandori fleck retina skos:closeMatch Orphanet:99179 Kandori fleck retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:228990 -MONDO:0009236 Kandori fleck retina skos:closeMatch OMIM:228990 fleck retina of kandori semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fleck retina of kandori MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal epithelial hyperplasia, oral MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal epithelial hyperplasia, oral MONDO:0009237 focal epithelial hyperplasia skos:closeMatch OMIM:229045 focal epithelial hyperplasia, oral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feh, oral -MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229050 MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342705 -MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folate malabsorption, hereditary +MONDO:0009238 hereditary folate malabsorption skos:closeMatch Orphanet:90045 Hereditary folate malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229050 MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folate malabsorption, hereditary -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym follicle-stimulating hormone deficiency, isolated -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch NCIT:C121142 Isolated Follicle Stimulating Hormone Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 +MONDO:0009238 hereditary folate malabsorption skos:closeMatch OMIM:229050 folate malabsorption, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folate malabsorption, hereditary MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229070 MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856716 -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym formiminotransferase deficiency +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch Orphanet:52901 Isolated follicle stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537070 +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch NCIT:C121142 Isolated Follicle Stimulating Hormone Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated follicle stimulating hormone deficiency +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia skos:closeMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym follicle-stimulating hormone deficiency, isolated MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268609 -MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 +MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym formiminotransferase deficiency MONDO:0009240 formiminoglutamic aciduria skos:closeMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym figlu-uria +MONDO:0009240 formiminoglutamic aciduria skos:closeMatch Orphanet:51208 Formiminoglutamic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229100 +MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795944 MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537270 MONDO:0009241 fountain syndrome skos:closeMatch OMIM:229120 fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips -MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795944 +MONDO:0009241 fountain syndrome skos:closeMatch Orphanet:3219 Fountain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229120 +MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:exactMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:614170 brittle cornea syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label brittle cornea syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009242 brittle cornea syndrome skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brittle cornea syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009243 Fraser-like syndrome skos:closeMatch OMIM:229230 fraser-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fused eyelids, airway anomalies, ovarian cysts, and digital anomalies -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931720 -MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229400 MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ffnd MONDO:0009247 frontofacionasal dysplasia skos:closeMatch OMIM:229400 frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontofacionasal dysostosis -MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose intolerance, hereditary +MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229400 +MONDO:0009247 frontofacionasal dysplasia skos:closeMatch Orphanet:1791 Frontofacionasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931720 MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose-1-phosphate aldolase deficiency -MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fructose intolerance, hereditary MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase b deficiency MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldob deficiency +MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fructose intolerance, hereditary +MONDO:0009249 hereditary fructose intolerance skos:closeMatch OMIM:229600 fructose intolerance, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fructose intolerance, hereditary +MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016751 MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019878 MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229600 -MONDO:0009249 hereditary fructose intolerance skos:closeMatch Orphanet:469 Hereditary fructose intolerance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016751 -MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016756 MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229700 -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 +MONDO:0009251 fructose-1,6-bisphosphatase deficiency skos:closeMatch Orphanet:348 Fructose-1,6-bisphosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016756 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268160 MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 +MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015487 MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538068 MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229800 -MONDO:0009252 essential fructosuria skos:closeMatch Orphanet:2056 Essential fructosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268160 MONDO:0009252 essential fructosuria skos:closeMatch OMIM:229800 fructosuria, essential semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fructokinase deficiency -MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, abnormal face, and distal limb anomalies MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538070 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229850 MONDO:0009253 Fryns syndrome skos:closeMatch Orphanet:2059 Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220730 +MONDO:0009253 Fryns syndrome skos:closeMatch OMIM:229850 fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic hernia, abnormal face, and distal limb anomalies MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230000 -MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016788 -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268155 +MONDO:0009254 fucosidosis skos:closeMatch Orphanet:349 Fucosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005645 MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency -MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:79237 Galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268155 MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009255 galactokinase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230200 +MONDO:0009255 galactokinase deficiency skos:closeMatch OMIM:230200 galactosemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galk deficiency MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 -MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009257 galactose epimerase deficiency skos:closeMatch OMIM:230350 galactosemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308473 Erythrocyte galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia type 3 semapv:RegularExpressionReplacement +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:79238 Galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gale deficiency +MONDO:0009257 galactose epimerase deficiency skos:closeMatch Orphanet:308487 Generalized galactose epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230350 +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 +MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, classic MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, duarte variant MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactose-1-phosphate uridylyltransferase deficiency MONDO:0009258 classic galactosemia skos:closeMatch NCIT:C84723 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia -MONDO:0009258 classic galactosemia skos:closeMatch OMIM:230400 galactosemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosemia, classic -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galactosemia -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 -MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230400 +MONDO:0009258 classic galactosemia skos:closeMatch Orphanet:79239 Classic galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galt deficiency MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:closeMatch Orphanet:33574 Glutamate-cysteine ligase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230450 -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency -MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glb1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gangliosidosis, generalized gm1, infantile form +MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency MONDO:0009260 GM1 gangliosidosis type 1 skos:closeMatch Orphanet:79255 GM1 gangliosidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230500 -MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 +MONDO:0009261 GM1 gangliosidosis type 2 skos:closeMatch Orphanet:79256 GM1 gangliosidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230600 MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 MONDO:0009262 GM1 gangliosidosis type 3 skos:closeMatch Orphanet:79257 GM1 gangliosidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230650 MONDO:0009263 GAPO syndrome skos:closeMatch OMIM:230740 gapo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, alopecia, pseudoanodontia, and optic atrophy MONDO:0009263 GAPO syndrome skos:closeMatch Orphanet:2067 GAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230740 -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265706 -MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018046 MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230750 MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 -MONDO:0009264 gastroschisis skos:closeMatch OMIM:230750 gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal wall defects MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020139 +MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265706 +MONDO:0009264 gastroschisis skos:closeMatch OMIM:230750 gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal wall defects +MONDO:0009264 gastroschisis skos:closeMatch Orphanet:2368 Gastroschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018046 +MONDO:0009265 Gaucher disease type I skos:closeMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:77259 Gaucher disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 MONDO:0009265 Gaucher disease type I skos:exactMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency -MONDO:0009265 Gaucher disease type I skos:closeMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009265 Gaucher disease type I skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230800 -MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 +MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:77260 Gaucher disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009266 Gaucher disease type II skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:230900 MONDO:0009266 Gaucher disease type II skos:closeMatch OMIM:230900 gaucher disease, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaucher disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 +MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:77261 Gaucher disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 MONDO:0009267 Gaucher disease type III skos:closeMatch OMIM:231000 gaucher disease, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009267 Gaucher disease type III skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231000 +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931585 MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856476 -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 -MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231050 +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch Orphanet:2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931585 MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch OMIM:231050 geleophysic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 +MONDO:0009269 geleophysic dysplasia 1 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231050 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856466 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537683 +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856466 +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch Orphanet:2075 Genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231060 MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopalatocardiac syndrome -MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopalatocardiac syndrome +MONDO:0009270 genito-palato-cardiac syndrome skos:closeMatch OMIM:231060 genitopalatocardiac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432255 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerodermia osteodysplastica MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walt disney dwarfism MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geroderma osteodysplasticum +MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walt disney dwarfism MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geroderma osteodysplasticum -MONDO:0009271 geroderma osteodysplastica skos:closeMatch OMIM:231070 geroderma osteodysplasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gerodermia osteodysplastica -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432255 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231070 -MONDO:0009271 geroderma osteodysplastica skos:closeMatch Orphanet:2078 Geroderma osteodysplastica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537799 -MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887495 MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231080 -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009272 German syndrome skos:closeMatch Orphanet:2077 German syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887495 MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C180633 Gestational Trophoblastic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational trophoblastic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231090 +MONDO:0009273 hydatidiform mole, recurrent, 1 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch OMIM:231095 ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ghosal hematodiaphyseal dysplasia MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231095 -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alloimmune hepatitis, congenital -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemochromatosis, neonatal -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, neonatal +MONDO:0009274 ghosal hematodiaphyseal dysplasia skos:closeMatch Orphanet:1802 Ghosal hematodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ghosal hematodiaphyseal dysplasia +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell hepatitis, formerly MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal hepatitis, formerly +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, neonatal +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemochromatosis, neonatal +MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alloimmune hepatitis, congenital MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhc MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nh -MONDO:0009275 neonatal hemochromatosis skos:closeMatch OMIM:231100 hemochromatosis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell hepatitis, formerly -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231100 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268059 MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536394 -MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268059 +MONDO:0009275 neonatal hemochromatosis skos:closeMatch Orphanet:446 Neonatal hemochromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231100 MONDO:0009275 neonatal hemochromatosis skos:closeMatch NCIT:C84446 Neonatal Hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal hepatitis MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057473 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005129 MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein ib deficiency MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001606 -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand factor receptor deficiency -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein ib, platelet, deficiency of -MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005129 -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von willebrand factor receptor deficiency +MONDO:0009276 Bernard-Soulier syndrome skos:closeMatch Orphanet:274 Bernard-Soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231200 MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 -MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:603383 glaucoma 1, open angle, f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, congenital -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:602429 glaucoma 1, open angle, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:603383 glaucoma 1, open angle, f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:137760 glaucoma, primary open angle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 -MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231550 +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:602429 glaucoma 1, open angle, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, adult-onset +MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 +MONDO:0009277 glaucoma 3A skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231300 +MONDO:0009277 glaucoma 3A skos:closeMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 3, primary congenital, a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-resistant adrenal insufficiency, achalasia and alacrima +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achalasia-alacrima syndrome MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenalism with achalasia -MONDO:0009279 triple-A syndrome skos:closeMatch NCIT:C35710 Triple A Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-addisonianism -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achalasia-alacrima syndrome MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alacrima-achalasia-adrenal insufficiency neurologic disorder -MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency and achalasia MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addisonian-achalasia syndrome +MONDO:0009279 triple-A syndrome skos:closeMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency and achalasia +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231550 +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome +MONDO:0009279 triple-A syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536008 +MONDO:0009279 triple-A syndrome skos:closeMatch NCIT:C35710 Triple A Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triple a syndrome MONDO:0009280 monosodium glutamate sensitivity skos:closeMatch OMIM:231630 monosodium glutamate sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chinese restaurant syndrome -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231670 glutaric acidemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 1 semapv:RegularExpressionReplacement MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268595 -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C99101 Glutaric Acidemia Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric acidemia type 1 semapv:RegularExpressionReplacement -MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231670 -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfb deficiency -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268596 +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:25 Glutaryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536833 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ethylmalonic-adipicaciduria -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfa deficiency -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric acidemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfa deficiency +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268596 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfb deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym etfdh deficiency MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231680 -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342873 -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutaric aciduria type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ga type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch OMIM:231690 glutaric aciduria 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342873 +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaric aciduria type 3 semapv:RegularExpressionReplacement +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaryl-coa oxidase deficiency +MONDO:0009283 glutaric acidemia type 3 skos:closeMatch Orphanet:35706 Glutaric acidemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231690 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856399 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:289849 Glutathione synthetase deficiency without 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231950 MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch Orphanet:33573 Gamma-glutamyl transpeptidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268524 -MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltransferase deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltranspeptidase deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ggt deficiency MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtg deficiency +MONDO:0009285 gamma-glutamyl transpeptidase deficiency skos:closeMatch OMIM:231950 glutathionuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gamma-glutamyltransferase deficiency +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal form of glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose-6-phosphatase deficiency MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose-6-phosphatase deficiency +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ia +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:exactMatch NCIT:C162398 Glycogen Storage Disease Type Ia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder type ia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatorenal glycogenosis -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ia -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch OMIM:232200 glycogen storage disease ia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ic -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2919796 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232200 +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 +MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 +MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:364 Glycogen storage disease due to glucose-6-phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd1c +MONDO:0009288 glycogen storage disease Ib skos:closeMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ic MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 -MONDO:0009288 glycogen storage disease Ib skos:closeMatch Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053185 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to acid maltase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomegalia glycogenica diffusa -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, generalized, cardiac form MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1,4-glucosidase deficiency +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomegalia glycogenica diffusa MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaa deficiency -MONDO:0009290 glycogen storage disease II skos:closeMatch OMIM:232300 glycogen storage disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis, generalized, cardiac form -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to acid maltase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053185 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 2 semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232300 +MONDO:0009290 glycogen storage disease II skos:closeMatch Orphanet:365 Glycogen storage disease due to acid maltase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017921 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232400 MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to glycogen debranching enzyme deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agl deficiency MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiid semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen debrancher deficiency MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agl deficiency -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 -MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 -MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gde deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with deposition of abnormal glycogen -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brancher deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, adult, with isolated myopathy -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, childhood -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, classic hepatic -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, fatal perinatal -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, congenital +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiid semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch OMIM:232400 glycogen storage disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iiic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009291 glycogen storage disease III skos:closeMatch Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to glycogen debranching enzyme deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, nonprogressive hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017923 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, fatal perinatal +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, congenital +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, classic hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, adult, with isolated myopathy +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, neuromuscular form, childhood MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053249 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brancher deficiency MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gbe1 deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:37553 Andersen-Tawil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1563715 -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial, with deposition of abnormal glycogen +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen branching enzyme deficiency -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch Orphanet:308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232500 -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018462 -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iv, nonprogressive hepatic +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency skos:closeMatch OMIM:232500 glycogen storage disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen phosphorylase deficiency MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygm deficiency -MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen phosphorylase deficiency +MONDO:0009293 glycogen storage disease V skos:closeMatch OMIM:232600 glycogen storage disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232600 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018462 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017924 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006012 +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009293 glycogen storage disease V skos:closeMatch Orphanet:368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 5 semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase deficiency glycogen-storage disorder of liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch OMIM:232700 glycogen storage disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232700 -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053240 +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 6 semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver glycogen phosphorylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053240 +MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009294 glycogen storage disease VI skos:closeMatch Orphanet:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017925 -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232800 -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017926 +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfkm deficiency -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053241 +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to muscle phosphofructokinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017926 MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement -MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053241 +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009295 glycogen storage disease VII skos:closeMatch Orphanet:371 Glycogen storage disease due to muscle phosphofructokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232800 +MONDO:0009295 glycogen storage disease VII skos:closeMatch OMIM:232800 glycogen storage disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle phosphofructokinase deficiency +MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017980 MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233100 -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3245525 MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glys1 -MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017980 -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal glucosuria -MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal glucosuria +MONDO:0009297 familial renal glucosuria skos:closeMatch Orphanet:69076 Familial renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3245525 MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosuria, renal +MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal glucosuria +MONDO:0009297 familial renal glucosuria skos:closeMatch OMIM:233100 renal glucosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal glucosuria MONDO:0009298 GOMBO syndrome skos:closeMatch OMIM:233270 gombo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 -MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949595 +MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d023961 MONDO:0009299 46 XX gonadal dysgenesis skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx gonadal dysgenesis MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, type 20 type, with deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233400 MONDO:0009300 Perrault syndrome 1 skos:closeMatch OMIM:233400 perrault syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis with sensorineural deafness -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233420 -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, dhh-related +MONDO:0009300 Perrault syndrome 1 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233400 +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, dhh-related +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, dhh-related MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, xy, male-limited -MONDO:0009301 46,XY sex reversal 7 skos:closeMatch OMIM:233420 46,xy sex reversal 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856272 +MONDO:0009301 46,XY sex reversal 7 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233420 MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233430 -MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018620 +MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome skos:closeMatch Orphanet:1770 XY type gonadal dysgenesis-associated anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856272 MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403529 MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233450 +MONDO:0009303 anti-glomerular basement membrane disease skos:closeMatch Orphanet:375 Anti-glomerular basement membrane disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018620 MONDO:0009303 anti-glomerular basement membrane disease skos:exactMatch NCIT:C34649 Goodpasture Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label goodpasture syndrome +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 +MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673536 MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined cellular and humoral immune defects with granulomas MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch OMIM:233650 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673536 -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch Orphanet:157949 Combined immunodeficiency with granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd, autosomal recessive cytochrome b-negative -MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyba deficiency MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgd due to deficiency of the alpha subunit of cytochrome b +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch OMIM:233690 granulomatous disease, chronic, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyba deficiency MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233690 MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch OMIM:233700 granulomatous disease, chronic, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233700 -MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233710 +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 skos:closeMatch OMIM:233710 granulomatous disease, chronic, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym granulomatous disorder, chronic, due to ncf2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009311 grouped pigmentation of the retina skos:closeMatch OMIM:233800 grouped pigmentation of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grouped pigmentation of the macula MONDO:0009311 grouped pigmentation of the retina skos:closeMatch OMIM:233800 grouped pigmentation of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grouped pigmentation of retinal pigment epithelium -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth factors, combined defect of +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931279 +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin, insulin-like growth factor i, and epidermal growth factor deficiency MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233805 +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth factors, combined defect of MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth factors, combined defect of -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch OMIM:233805 growth factors, combined defect of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin, insulin-like growth factor i, and epidermal growth factor deficiency -MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931279 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931551 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 -MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 +MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency skos:closeMatch Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym werner-like syndrome due to combined growth factor deficiency MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, small and puffy hands and feet, and eczema MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch OMIM:233810 growth retardation, small and puffy hands and feet, and eczema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, small and puffy hands and feet, and eczema -MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234000 -MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233810 +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537621 +MONDO:0009313 Grubben-de Cock-Borghgraef syndrome skos:closeMatch Orphanet:2101 Grubben-de Cock-Borghgraef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931551 MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haf deficiency MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015526 -MONDO:0009315 congenital factor XII deficiency skos:closeMatch NCIT:C131740 Factor XII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xii deficiency +MONDO:0009315 congenital factor XII deficiency skos:closeMatch Orphanet:330 Congenital factor XII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234000 MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f12 deficiency -MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018522 +MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009315 congenital factor XII deficiency skos:closeMatch NCIT:C131740 Factor XII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xii deficiency +MONDO:0009315 congenital factor XII deficiency skos:closeMatch OMIM:234000 factor 12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 12 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234100 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018523 +MONDO:0009318 Hallermann-Streiff syndrome skos:closeMatch Orphanet:2108 Hallermann-Streiff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018522 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkan neuroaxonal dystrophy, juvenile-onset MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006211 -MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234200 +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch OMIM:234200 neurodegeneration with brain iron accumulation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkan neuroaxonal dystrophy, juvenile-onset +MONDO:0009319 pantothenate kinase-associated neurodegeneration skos:closeMatch Orphanet:157850 Pantothenate kinase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018523 +MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856198 +MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234250 MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hall-riggs mental retardation syndrome MONDO:0009320 Hall-Riggs syndrome skos:closeMatch OMIM:234250 hall-riggs mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hall-riggs mental retardation syndrome -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234250 -MONDO:0009320 Hall-Riggs syndrome skos:closeMatch Orphanet:2107 Hall-Riggs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856198 +MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234280 +MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856197 MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hallux varus and preaxial polysyndactyly MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch OMIM:234280 hallux varus and preaxial polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hallux varus and preaxial polysyndactyly -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856197 -MONDO:0009321 hallux varus-preaxial polysyndactyly syndrome skos:closeMatch Orphanet:2110 Hallux varus-preaxial polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234280 -MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019165 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018609 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234500 MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 -MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart block, congenital -MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, congenital +MONDO:0009324 Hartnup disease skos:closeMatch Orphanet:2116 Hartnup disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006250 +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019263 -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149530 MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535758 -MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234700 -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, familial pulmonary capillary -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149530 +MONDO:0009326 congenital heart block skos:closeMatch Orphanet:60041 Congenital heart block semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019263 +MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart block, congenital +MONDO:0009326 congenital heart block skos:closeMatch OMIM:234700 heart block, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart block, congenital MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340548 +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary venoocclusive disorder type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535861 +MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangiomatosis, familial pulmonary capillary MONDO:0009330 hemangiopericytoma, malignant skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234820 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihypertrophy, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia, isolated +MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihypertrophy, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemihyperplasia, isolated MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemihyperplasia MONDO:0009331 isolated hemihyperplasia skos:closeMatch OMIM:235000 hemihyperplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemi-3 syndrome -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 -MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856184 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235000 +MONDO:0009331 isolated hemihyperplasia skos:closeMatch Orphanet:2128 Isolated hemihyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019463 MONDO:0009331 isolated hemihyperplasia skos:exactMatch NCIT:C88541 Hemihypertrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemihypertrophy MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian derivatives-lymphangiectasia-polydactyly syndrome -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235255 -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly -MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch Orphanet:1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urioste syndrome +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly +MONDO:0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome skos:closeMatch OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235370 +MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 +MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 +MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, typical MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:90038 Shiga toxin-associated hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 -MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 skos:closeMatch Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235400 MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:closeMatch Orphanet:99931 Idiopathic pulmonary hemosiderosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235500 MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235510 -MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic dysplasia, generalized -MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 +MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 skos:closeMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856128 +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch Orphanet:79124 Hepatic veno-occlusive disease-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235550 MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome skos:closeMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic venoocclusive disorder with immunodeficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with delta(4)-3-oxosteroid type 5-beta-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 -MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856127 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235555 +MONDO:0009339 congenital bile acid synthesis defect 2 skos:closeMatch Orphanet:79303 Congenital bile acid synthesis defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535443 MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to hexokinase deficiency MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch Orphanet:90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235700 MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency skos:closeMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to hexokinase deficiency -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 -MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856113 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261537 Mowat-Wilson syndrome due to monosomy 2q22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856113 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:261552 Mowat-Wilson syndrome due to a ZEB2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235730 +MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch Orphanet:2152 Mowat-Wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536990 MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder-mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009341 Mowat-Wilson syndrome skos:closeMatch OMIM:235730 mowat-wilson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder-deafness-polydactyly syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch Orphanet:2155 Hirschsprung disease-deafness-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235740 -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome skos:closeMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hirschsprung disorder with polydactyly, renal agenesis, and deafness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235760 -MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235800 +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch OMIM:235760 hirschsprung disease with hypoplastic nails and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder with hypoplastic nails and dysmorphic facial features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome skos:closeMatch Orphanet:2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235760 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220992 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538320 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235830 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 +MONDO:0009345 histidinemia skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235800 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 -MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 -MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, familial lipochrome +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538321 +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2157 Histidinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268642 +MONDO:0009346 histidinuria due to a renal tubular defect skos:closeMatch Orphanet:2158 Histidinuria-renal tubular defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235830 MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, familial lipochrome +MONDO:0009347 familial lipochrome histiocytosis skos:closeMatch OMIM:235900 histiocytosis, familial lipochrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis, familial lipochrome +MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236000 +MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10WHO:C81.7 Other classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement +MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoma, hodgkin, classic -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chl MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoma, hodgkin, classic +MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chl MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch OMIM:236000 lymphoma, hodgkin, classic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10CM:C81.7 Other Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0009348 classic Hodgkin lymphoma skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236000 -MONDO:0009348 classic Hodgkin lymphoma skos:narrowMatch ICD10WHO:C81.7 Other classical Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym classical hodgkin lymphoma semapv:RegularExpressionReplacement -MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, familial alobar MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym demyer sequence -MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arhinencephaly +MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, familial alobar MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236100 +MONDO:0009349 holoprosencephaly 1 skos:closeMatch Orphanet:268936 Isolated arhinencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated arhinencephaly MONDO:0009349 holoprosencephaly 1 skos:closeMatch OMIM:236100 holoprosencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinencephaly +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236110 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535327 -MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236110 -MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268632 +MONDO:0009350 Holzgreve-Wagner-Rehder syndrome skos:closeMatch Orphanet:2167 Holzgreve syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856095 MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495554 -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071093 -MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236200 +MONDO:0009351 homocarnosinosis skos:closeMatch Orphanet:1361 Carnosinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268632 MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperhomocysteinemia, thrombotic, cbs-related MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbs deficiency MONDO:0009352 classic homocystinuria skos:closeMatch OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria with or without response to pyridoxine -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity +MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071093 +MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751202 +MONDO:0009352 classic homocystinuria skos:closeMatch Orphanet:394 Classic homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236200 MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylenetetrahydrofolate reductase deficiency +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch Orphanet:395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236250 MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency skos:closeMatch OMIM:236250 homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity +MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria-megaloblastic anemia, cble complementation type MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856057 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:2169 Methylcobalamin deficiency type cblE semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236270 -MONDO:0009354 methylcobalamin deficiency type cblE skos:closeMatch NCIT:C142173 Homocystinuria-Megaloblastic Anemia, cblE Complementation Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label homocystinuria-megaloblastic anemia, cble complementation type +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236400 MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial/multiple synostosis syndrome MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroradial synostosis -MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch Orphanet:3265 Humero-radial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236400 -MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cond +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:236400 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis +MONDO:0009356 autosomal recessive humeroradial synostosis skos:closeMatch OMIM:143050 humeroradial synostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label humeroradial synostosis MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroosteonephosis syndrome -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236500 -MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +MONDO:0009358 Hutterite cerebroosteonephrodysplasia syndrome skos:closeMatch OMIM:236450 hutterite cerebroosteonephrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cond MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch Orphanet:500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236500 MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome skos:closeMatch OMIM:236500 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventriculomegaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch OMIM:236600 hydrocephalus, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephaly -MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:269510 Congenital non-communicating hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 -MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius +MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236600 MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis -MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with associated malformations +MONDO:0009361 autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius skos:exactMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with associated malformations +MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch OMIM:236640 hydrocephalus with associated malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with associated malformations MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856052 MONDO:0009362 growth delay-hydrocephaly-lung hypoplasia syndrome skos:closeMatch Orphanet:3035 Growth delay-hydrocephaly-lung hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236640 -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, tall stature, joint laxity, and kyphoscoliosis -MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, tall stature, joint laxity, and kyphoscoliosis MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856051 MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch Orphanet:2181 Hydrocephaly-tall stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236660 +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, tall stature, joint laxity, and kyphoscoliosis +MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome skos:closeMatch OMIM:236660 hydrocephalus, tall stature, joint laxity, and kyphoscoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, tall stature, joint laxity, and kyphoscoliosis +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, agyria, and retinal dysplasia MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cod-md syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroocular dysplasia-muscular dystrophy syndrome -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236670 +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 skos:closeMatch OMIM:236670 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hard syndrome MONDO:0009365 hydrolethalus syndrome 1 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236680 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckusick-kaufman syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948368 MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236700 +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos syndrome +MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052312 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mckusick-kaufman syndrome -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckusick-kaufman syndrome -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos, postaxial polydactyly, and congenital heart malformation -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch OMIM:236700 mckusick-kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrometrocolpos syndrome -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948368 -MONDO:0009367 McKusick-Kaufman syndrome skos:closeMatch Orphanet:2473 McKusick-Kaufman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538159 +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ochoa syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis with peculiar facial expression MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236730 -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ochoa syndrome -MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ochoa syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urofacial syndrome +MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inverted smile and occult neuropathic bladder MONDO:0009368 urofacial syndrome type 1 skos:closeMatch OMIM:236730 urofacial syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, partial, with urinary abnormalities -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455988 -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 -MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrops fetalis, nonimmune MONDO:0009369 non-immune hydrops fetalis skos:closeMatch OMIM:236750 hydrops fetalis, nonimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrops fetalis, nonimmune -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888081 -MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236792 +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:163596 Hb Bart's hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:363999 Non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455988 +MONDO:0009369 non-immune hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236750 MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855995 -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 +MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236792 +MONDO:0009370 L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:79314 L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888081 +MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342737 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236795 -MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342737 -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 +MONDO:0009371 3-hydroxyisobutyric aciduria skos:closeMatch Orphanet:939 3-hydroxyisobutyric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535312 MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria -MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxykynureninuria MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxykynureninuria +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxykynureninuria MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch OMIM:236800 hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, partial MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268474 -MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236900 +MONDO:0009372 encephalopathy due to hydroxykynureninuria skos:closeMatch Orphanet:79155 Hydroxykynureninuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236800 MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydroxylysinuria +MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch Orphanet:79156 Seizures-intellectual disability due to hydroxylysinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236900 MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome skos:closeMatch OMIM:236900 hydroxylysinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydroxylysinuria MONDO:0009374 hydroxyprolinemia skos:closeMatch OMIM:237000 hydroxyprolinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxy-l-proline oxidase deficiency MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237300 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058297 -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cps type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl-phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbamoyl phosphate synthetase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbamoyl phosphate synthetase type 1 deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch Orphanet:147 Carbamoyl-phosphate synthetase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058297 +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease skos:closeMatch OMIM:237300 carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cps type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthetase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch OMIM:237310 n-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthase deficiency MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch NCIT:C129307 N-Acetylglutamate Synthase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237400 MONDO:0009378 hyper-beta-alaninemia skos:closeMatch Orphanet:309147 Hyper-beta-alaninemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268630 -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237450 -MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039234 MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220991 +MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039234 MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, rotor type +MONDO:0009379 Rotor syndrome skos:closeMatch Orphanet:3111 Rotor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237450 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237500 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013800 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022350 -MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch OMIM:237500 dubin-johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237500 MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007566 -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch NCIT:C98846 Breast Milk Jaundice semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast milk jaundice -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast milk jaundice -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperbilirubinemia, transient familial neonatal -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, transient familial neonatal -MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237900 +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia type 2 semapv:RegularExpressionReplacement +MONDO:0009380 Dubin-Johnson syndrome skos:closeMatch Orphanet:234 Dubin-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013800 MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270210 -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, partial +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch Orphanet:2312 Transient familial neonatal hyperbilirubinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237900 +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperbilirubinemia, transient familial neonatal +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperbilirubinemia, transient familial neonatal +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch OMIM:237900 hyperbilirubinemia, transient familial neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast milk jaundice +MONDO:0009383 transient familial neonatal hyperbilirubinemia skos:closeMatch NCIT:C98846 Breast Milk Jaundice semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label breast milk jaundice +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, complete MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:755 Leydig cell hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone resistance, female -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism, male, due to lhcgr defect +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia with male pseudohermaphroditism +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism, male, due to lhcgr defect +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luteinizing hormone resistance, female MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96265 Leydig cell hypoplasia due to complete LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch Orphanet:96266 Leydig cell hypoplasia due to partial LH resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238320 -MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, complete -MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym compulsive reading +MONDO:0009384 Leydig cell hypoplasia, type 1 skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell hypoplasia, partial MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym precocious reading -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipd deficiency +MONDO:0009386 hyperlexia skos:closeMatch OMIM:238350 hyperlexia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym compulsive reading MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia, essential familial MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, familial +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipd deficiency MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylomicronemia, familial -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase d deficiency -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch NCIT:C84771 Hyperlipoproteinemia, Type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipoproteinemia, type i -MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperchylomicronemia, familial -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine intolerance -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268553 -MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238700 +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:309015 Familial lipoprotein lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238600 +MONDO:0009387 familial lipoprotein lipase deficiency skos:closeMatch OMIM:238600 hyperlipoproteinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase d deficiency +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-lysine:nad-oxido-reductase deficiency MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine:alpha-ketoglutarate reductase deficiency -MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-lysine:nad-oxido-reductase deficiency MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency +MONDO:0009388 hyperlysinemia skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysine intolerance +MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268553 +MONDO:0009388 hyperlysinemia skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238700 MONDO:0009389 hyperlysinemia due to defect in lysine transport into mitochondria skos:closeMatch Orphanet:2203 Hyperlysinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238710 MONDO:0009390 hyperlysinuria with hyperammonemia skos:closeMatch OMIM:238750 hyperlysinuria with hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlysinemia, periodic -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238970 MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268540 +MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:238970 +MONDO:0009393 ornithine translocase deficiency skos:closeMatch Orphanet:415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch NCIT:C129029 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome -MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhh syndrome +MONDO:0009393 ornithine translocase deficiency skos:closeMatch OMIM:238970 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasia, familial idiopathic MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoectasia, familial -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009394 juvenile Paget disease skos:closeMatch Orphanet:2801 Juvenile Paget disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239000 -MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasemia, chronic congenital idiopathic +MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 5, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal recessive -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 +MONDO:0009394 juvenile Paget disease skos:closeMatch OMIM:239000 paget disease of bone 5, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphosphatasemia, chronic congenital idiopathic MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsph -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832615 -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239200 -MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperparathyroidism, neonatal severe +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch Orphanet:3416 Hyperostosis corticalis generalisata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239100 +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van buchem disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009395 hyperostosis corticalis generalisata skos:closeMatch OMIM:239100 van buchem disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endosteal hyperostosis, autosomal recessive MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe primary +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperparathyroidism, neonatal severe +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nsph MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch OMIM:239200 hyperparathyroidism, neonatal severe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperparathyroidism, neonatal severe -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239200 +MONDO:0009397 neonatal severe primary hyperparathyroidism skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832615 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239300 MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome -MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239500 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs1 +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 skos:closeMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mabry syndrome MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058513 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 +MONDO:0009400 hyperprolinemia type 1 skos:closeMatch Orphanet:419 Hyperprolinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239500 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058514 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931835 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538385 -MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-pyrroline-5-carboxylate dehydrogenase deficiency MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058512 -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, hypospadias, and polysyndactyly syndrome +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931835 +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch OMIM:239510 hyperprolinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-pyrroline-5-carboxylate dehydrogenase deficiency +MONDO:0009401 hyperprolinemia type 2 skos:closeMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239510 +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239710 MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acrofrontofacionasal dysostosis with genitourinary anomalies MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym affn dysostosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch Orphanet:2211 Hypertelorism-hypospadias-polysyndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239710 +MONDO:0009402 acrofrontofacionasal dysostosis 2 skos:closeMatch OMIM:239710 acrofrontofacionasal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, hypospadias, and polysyndactyly syndrome MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220742 MONDO:0009404 hypertelorism, microtia, facial clefting syndrome skos:closeMatch Orphanet:2213 Hypertelorism-microtia-facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239800 -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239840 MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy -MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931676 +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239840 MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch OMIM:239840 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855902 -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239850 -MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 +MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome skos:closeMatch Orphanet:2218 Cervical hypertrichosis-peripheral neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931676 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795905 +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535572 +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch Orphanet:1517 Cantú syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:239850 MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type skos:closeMatch OMIM:239850 cantu syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichotic osteochondrodysplasia -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune polyendocrinopathy type 1 MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085859 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune polyendocrinopathy type 1 +MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240300 MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoadrenocorticism with hypoparathyroidism and superficial moniliasis MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch OMIM:240300 autoimmune polyendocrine syndrome, iia i, with or without reversible metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009411 autoimmune polyendocrine syndrome type 1 skos:closeMatch Orphanet:3453 Autoimmune polyendocrinopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 1 semapv:RegularExpressionReplacement -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gulo, nonfunctional -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase pseudogene +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoascorbemia +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin c, inability to synthesize MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase, nonfunctional MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoascorbemia -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin c, inability to synthesize -MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoascorbemia +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-gulonolactone oxidase pseudogene +MONDO:0009412 scurvy skos:closeMatch OMIM:240400 hypoascorbemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gulo, nonfunctional +MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia due to taci deficiency MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch OMIM:240500 immunodeficiency, common variable, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to taci defect -MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver glycogen synthase deficiency MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement -MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240600 MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855861 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240600 +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch OMIM:240600 glycogen storage disease 0, liver semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, liver semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency skos:closeMatch Orphanet:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0a semapv:RegularExpressionReplacement MONDO:0009415 hypoglycemia, leucine-induced skos:closeMatch OMIM:240800 hypoglycemia, leucine-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leucine-sensitive hypoglycemia of infancy -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch OMIM:240900 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch Orphanet:293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240950 MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch Orphanet:2410 Hypergonadotropic hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855859 +MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts and testicular failure MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism-cataract syndrome MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism-cataract syndrome -MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome skos:closeMatch OMIM:240950 hypogonadism-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts and testicular failure +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342286 -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241080 MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch Orphanet:3464 Woodhouse-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536742 -MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome +MONDO:0009419 Woodhouse-Sakati syndrome skos:closeMatch OMIM:241080 woodhouse-sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism and partial alopecia MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch OMIM:241090 hypergonadotropic hypogonadism and partial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic hypogonadism and partial alopecia MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome skos:closeMatch Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241090 MONDO:0009421 hypogonadism, male skos:closeMatch OMIM:241100 hypogonadism, male semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism and testicular atrophy MONDO:0009422 hypohidrosis with abnormal palmar dermal Ridges skos:closeMatch OMIM:241120 hypohidrosis with abnormal palmar dermal ridges semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sweat gland hypoplasia -MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemia, familial MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gullner syndrome -MONDO:0009424 Bartter disease type 2 skos:closeMatch OMIM:241200 bartter syndrome, iia 2, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 2, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009423 hypokalemic alkalosis, familial, with specific renal tubulopathy skos:closeMatch OMIM:241150 hypokalemic alkalosis, familial, with specific renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemia, familial MONDO:0009424 Bartter disease type 2 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241200 +MONDO:0009424 Bartter disease type 2 skos:closeMatch OMIM:241200 bartter syndrome, iia 2, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 2, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537154 -MONDO:0009425 hypomandibular faciocranial dysostosis skos:closeMatch Orphanet:1790 Hypomandibular faciocranial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241310 -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241410 -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855840 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch OMIM:241410 hypoparathyroidism-retardation-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism with short stature, mental retardation, and seizures -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241520 -MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241410 +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome skos:closeMatch Orphanet:2323 Sanjad-Sakati syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855840 MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, autosomal recessive -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets with hypercalciuria, hereditary -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric rickets +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch OMIM:241520 hypophosphatemic rickets, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241520 +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 skos:closeMatch Orphanet:289176 Autosomal recessive hypophosphatemic rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhr +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853271 MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241530 +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric rickets +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets with hypercalciuria, hereditary MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch OMIM:241530 hypophosphatemic rickets with hypercalciuria, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets with hypercalciuria, hereditary -MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria skos:closeMatch Orphanet:157215 Hereditary hypophosphatemic rickets with hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853271 MONDO:0009433 hypoplastic left heart syndrome 1 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241550 -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch OMIM:241600 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias-mental retardation syndrome MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch OMIM:241760 hypospadias-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias-mental retardation syndrome MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome skos:closeMatch Orphanet:2261 Hypospadias-intellectual disability, Goldblatt type syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241760 -MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241850 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537901 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537901 +MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch Orphanet:1226 Bamforth-Lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241850 MONDO:0009437 Bamforth-Lazarus syndrome skos:closeMatch OMIM:241850 bamforth-lazarus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242050 MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, brocq congenital, nonbullous form, formerly +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, nonbullous congenital, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 -MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, nonbullous congenital, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmons syndrome -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kid syndrome, autosomal recessive +MONDO:0009439 autosomal recessive congenital ichthyosis 2 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242100 MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratitis-ichthyosis-deafness syndrome, autosomal recessive -MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal recessive MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242150 +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratitis-ichthyosis-deafness syndrome, autosomal recessive +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kid syndrome, autosomal recessive MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosiform erythroderma, corneal involvement, and deafness +MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss skos:closeMatch OMIM:242150 keratitis-ichthyosis-deafness syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmons syndrome +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion fetus +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar exfoliation of newborn +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desquamation of newborn +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1, with bathing suit distribution semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:100976 Bathing suit ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bathing suit ichthyosis -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242300 -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion fetus -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar exfoliation of newborn -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desquamation of newborn -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242500 +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0009441 autosomal recessive congenital ichthyosis 1 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0239849 +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242500 MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch Orphanet:457 Harlequin ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019163 -MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch OMIM:242500 ichthyosis, congenital, autosomal recessive 4b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'harlequin fetus' MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis with alopecia, eclabium, ectropion, and mental retardation MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch OMIM:242510 ichthyosis with alopecia, eclabium, ectropion, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with alopecia, eclabium, ectropion, and mental retardation MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242510 MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome skos:closeMatch Orphanet:2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855788 -MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275088 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, hepatosplenomegaly, and cerebellar degeneration MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch OMIM:242520 ichthyosis, hepatosplenomegaly, and cerebellar degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, hepatosplenomegaly, and cerebellar degeneration +MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275088 MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome skos:closeMatch Orphanet:2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242520 -MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242530 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855787 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 +MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536274 MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, mental retardation, dwarfism, and renal impairment MONDO:0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome skos:closeMatch OMIM:242530 ichthyosis, mental retardation, dwarfism, and renal impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, mental retardation, dwarfism, and renal impairment -MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268654 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 +MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536285 MONDO:0009448 iminoglycinuria skos:closeMatch Orphanet:42062 Iminoglycinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242600 MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch OMIM:242670 ciliary dyskinesia with defective radial spokes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to defective radial spokes MONDO:0009449 ciliary dyskinesia with defective radial spokes skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242670 -MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242680 MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch OMIM:242680 ciliary dyskinesia with excessively long cilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome due to excessively long cilia +MONDO:0009450 ciliary dyskinesia with excessively long cilia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242680 MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242700 MONDO:0009451 Nezelof syndrome skos:closeMatch Orphanet:83471 Thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thymic aplasia MONDO:0009451 Nezelof syndrome skos:closeMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune defect due to absence of thymus MONDO:0009451 Nezelof syndrome skos:closeMatch OMIM:242700 t-cell immunodeficiency with thymic aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune defect due to absence of thymus -MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855772 MONDO:0009452 Vici syndrome skos:closeMatch Orphanet:1493 Vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242840 +MONDO:0009452 Vici syndrome skos:closeMatch OMIM:242840 vici syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym centromeric instability, immunodeficiency syndrome MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242860 MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency syndrome, variable MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 skos:closeMatch OMIM:242860 immunodeficiency-centromeric instability-facial anomalies syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune deficiency, variable, with centromeric instability of chromosomes type 1, type 9, and type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877024 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048699 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242900 -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia -MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch OMIM:242900 schimke immunoosseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke immunoosseous dysplasia +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536629 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:242900 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048699 +MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch Orphanet:1830 Schimke immuno-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877024 MONDO:0009458 Schimke immuno-osseous dysplasia skos:closeMatch NCIT:C135087 Schimke Immunoosseous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke immunoosseous dysplasia -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, channelopathy-associated -MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital analgesia, autosomal recessive +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, channelopathy-associated +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asymbolia for pain +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 +MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243000 MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:exactMatch OMIM:608654 neuropathy, hereditary sensory and autonomic, iia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym insensitivity to pain, congenital MONDO:0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive skos:closeMatch NCIT:C125386 Indifference to Pain, Congenital, Autosomal Recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label indifference to pain, congenital, autosomal recessive +MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403812 MONDO:0009461 spermatogenic failure 5 skos:closeMatch OMIM:243060 spermatogenic failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infertility associated with multitailed spermatozoa and excessive dna -MONDO:0009461 spermatogenic failure 5 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243060 MONDO:0009464 immunodeficiency with defective T-cell response to interleukin 1 skos:closeMatch OMIM:243110 immunodeficiency with defective t-cell response to interleukin 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1, defective t-cell response to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd -MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal atresia, multiple +MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency-enteropathy spectrum MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028210 -MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176792 Gastrointestinal Defects and Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome +MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal atresia, multiple +MONDO:0009465 multiple intestinal atresia skos:closeMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176622 Gastrointestinal Defects And Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome -MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency-enteropathy spectrum -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intestinal pseudoobstruction with patent ductus arteriosus and natal teeth -MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009465 multiple intestinal atresia skos:closeMatch NCIT:C176792 Gastrointestinal Defects and Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal defects and immunodeficiency syndrome +MONDO:0009465 multiple intestinal atresia skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cid-mia/early-onset ibd MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243185 +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome skos:closeMatch OMIM:243185 intestinal pseudoobstruction with patent ductus arteriosus and natal teeth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intestinal pseudoobstruction with patent ductus arteriosus and natal teeth +MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial hypertension, idiopathic MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033845 MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intracranial hypertension, idiopathic MONDO:0009468 pseudotumor cerebri skos:closeMatch Orphanet:238624 Idiopathic intracranial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243200 -MONDO:0009468 pseudotumor cerebri skos:closeMatch OMIM:243200 intracranial hypertension, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial hypertension, idiopathic -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym summerskill syndrome -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 -MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 1 semapv:RegularExpressionReplacement +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch OMIM:243300 cholestasis, benign recurrent intrahepatic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243300 +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 skos:closeMatch Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 1 semapv:RegularExpressionReplacement +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris coloboma with ptosis, hypertelorism, and mental retardation +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, mental retardation, epilepsy, and characteristic facies MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7p22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with epilepsy and characteristic facies MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculofacial lymphatic syndrome MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch Orphanet:2995 Baraitser-Winter cerebrofrontofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243310 -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, mental retardation, epilepsy, and characteristic facies -MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris coloboma with ptosis, hypertelorism, and mental retardation +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser-winter syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009470 Baraitser-Winter syndrome 1 skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with epilepsy and characteristic facies MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243320 -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetylation, fast -MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isoniazid inactivation, slow MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slow acetylator phenotype MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, slow MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fast acetylator phenotype MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inh inactivation, fast +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isoniazid inactivation, slow +MONDO:0009472 acetylation, slow skos:closeMatch OMIM:243400 acetylation, slow semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetylation, fast MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243440 MONDO:0009473 isotretinoin-like syndrome skos:closeMatch Orphanet:2306 Isotretinoin-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome -MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isotretinoin embryopathy-like syndrome MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia-aortic arch syndrome +MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isotretinoin embryopathy-like syndrome MONDO:0009473 isotretinoin-like syndrome skos:closeMatch OMIM:243440 isotretinoin embryopathy-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isotretinoin embryopathy-like syndrome -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243500 +MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ivd deficiency +MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268575 -MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency +MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243500 MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538167 -MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ivd deficiency -MONDO:0009475 isovaleric acidemia skos:closeMatch OMIM:243500 isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency +MONDO:0009475 isovaleric acidemia skos:closeMatch Orphanet:33 Isovaleric acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isovaleric acid coa dehydrogenase deficiency MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 -MONDO:0009476 atresia of small intestine skos:closeMatch OMIM:243600 jejunal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apple peel small bowel syndrome +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243600 MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021828 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266172 -MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243600 MONDO:0009476 atresia of small intestine skos:exactMatch NCIT:C101027 Jejunal Atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label jejunal atresia MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010626 +MONDO:0009476 atresia of small intestine skos:closeMatch OMIM:243600 jejunal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apple peel small bowel syndrome +MONDO:0009476 atresia of small intestine skos:closeMatch Orphanet:1201 Atresia of small intestine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538260 MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 -MONDO:0009477 Stromme syndrome skos:closeMatch OMIM:243605 stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 31, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009477 Stromme syndrome skos:closeMatch Orphanet:506307 Stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243605 -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal recessive -MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hies, autosomal recessive +MONDO:0009477 Stromme syndrome skos:closeMatch OMIM:243605 stromme syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 31, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch Orphanet:217390 Combined immunodeficiency due to DOCK8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hies, autosomal recessive +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch OMIM:243700 hyper-ige recurrent infection syndrome 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige syndrome, autosomal recessive MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch NCIT:C126343 DOCK8 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dock8 deficiency -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175692 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535880 -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243800 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness +MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243800 MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym johanson-blizzard syndrome MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch OMIM:243800 johanson-blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label johanson-blizzard syndrome -MONDO:0009479 Johanson-Blizzard syndrome skos:closeMatch Orphanet:2315 Johanson-Blizzard syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175692 -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculohepatorenal syndrome MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243910 +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, chorioretinal, with cerebellar vermis aplasia MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855675 -MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrooculohepatorenal syndrome +MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243910 MONDO:0009480 Joubert syndrome with oculorenal defect skos:closeMatch OMIM:243910 arima syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome with bilateral chorioretinal coloboma -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 -MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796005 +MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244200 MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 +MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796005 MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537008 MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch OMIM:244300 kapur-toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long columella with cleft lip/palate and eye, heart, and intestinal anomalies MONDO:0009483 Kapur-Toriello syndrome skos:closeMatch Orphanet:2328 Kapur-Toriello syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244300 MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polynesian bronchiectasis MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia, bronchiectasis, and sinusitis -MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polynesian bronchiectasis MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kartagener syndrome +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 1, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immotile cilia syndrome +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia, bronchiectasis, and sinusitis +MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch NCIT:C84797 Kartagener Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kartagener syndrome MONDO:0009484 primary ciliary dyskinesia 1 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244400 +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaufman oculocerebrofacial syndrome +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kaufman oculocerebrofacial syndrome +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244450 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537013 MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855663 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244450 -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kos -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kaufman oculocerebrofacial syndrome -MONDO:0009485 oculocerebrofacial syndrome, Kaufman type skos:closeMatch OMIM:244450 kaufman oculocerebrofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kaufman oculocerebrofacial syndrome MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855648 MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch OMIM:244460 kenny-caffey syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kcs MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 -MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoconus posticus circumscriptus -MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus posticus circumscriptus MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kpc with associated malformations +MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus posticus circumscriptus +MONDO:0009488 keratoconus posticus circumscriptus skos:closeMatch OMIM:244600 keratoconus posticus circumscriptus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratoconus posticus circumscriptus MONDO:0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type skos:closeMatch Orphanet:86923 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244850 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillon-lefevre syndrome MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030360 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010214 -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papillon-lefevre syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245000 +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009490 Papillon-Lefevre disease skos:closeMatch NCIT:C84992 Papillon-Lefevre Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefevre syndrome -MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 -MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haim-munk syndrome -MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia and onychogryposis +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:99969 Pleomorphic liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch Orphanet:678 Papillon-Lefèvre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papillon-lefèvre syndrome +MONDO:0009490 Papillon-Lefevre disease skos:closeMatch OMIM:245000 papillon-lefevre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochin jewish disorder +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with periodontopathia and onychogryposis MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome +MONDO:0009491 Haim-Munk syndrome skos:closeMatch OMIM:245010 haim-munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haim-munk syndrome +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haim-munk syndrome +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245010 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537627 +MONDO:0009491 Haim-Munk syndrome skos:closeMatch Orphanet:2342 Haim-Munk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855627 MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245050 +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ketoacidosis due to scot deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:acetoacetate transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-ketoacid coa-transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ketoacidosis due to scot deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinyl-coa:3-oxoacid-coa transferase deficiency MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinyl-coa:3-oxoacid-coa transferase deficiency -MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch Orphanet:832 Succinyl-CoA:3-oxoacid CoA transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinyl-coa:3-oxoacid-coa transferase deficiency +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency skos:closeMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scot deficiency +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richards-rundle syndrome +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245100 MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 +MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535674 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richards-rundle syndrome MONDO:0009493 Richards-Rundle syndrome skos:closeMatch OMIM:245100 richards-rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness-mental retardation syndrome -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richards-rundle syndrome -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245100 -MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1399 Richards-Rundle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796136 MONDO:0009493 Richards-Rundle syndrome skos:closeMatch Orphanet:1188 Ataxia-deafness-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-deafness-intellectual disability syndrome -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245150 -MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855607 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536167 +MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245150 +MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855607 MONDO:0009495 Keutel syndrome skos:closeMatch Orphanet:85202 Keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonic stenosis, brachytelephalangism, and calcification of cartilages -MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keutel syndrome MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keutel syndrome +MONDO:0009495 Keutel syndrome skos:closeMatch OMIM:245150 keutel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keutel syndrome MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis skos:closeMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burton syndrome -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kniest-like dysplasia, lethal -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kniest-like dysplasia, lethal -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245190 -MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855605 MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023492 -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 -MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245200 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537208 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch Orphanet:2347 Lethal Kniest-like dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245190 +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kniest-like dysplasia, lethal +MONDO:0009498 lethal Kniest-like dysplasia skos:closeMatch OMIM:245190 kniest-like dysplasia, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kniest-like dysplasia, lethal MONDO:0009499 Krabbe disease skos:closeMatch OMIM:245200 krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosylceramide beta-galactosidase deficiency +MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245200 +MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023521 +MONDO:0009499 Krabbe disease skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023492 MONDO:0009500 kuru, susceptibility to skos:closeMatch Orphanet:454745 Kuru semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245300 MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245340 -MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855577 MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch OMIM:245340 erythrocyte lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactate transporter defect, myopathy due to -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex -MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855565 +MONDO:0009501 metabolic myopathy due to lactate transporter defect skos:closeMatch Orphanet:171690 Metabolic myopathy due to lactate transporter defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855577 MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 +MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:79244 Pyruvate dehydrogenase E2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855565 MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245348 +MONDO:0009502 pyruvate dehydrogenase E2 deficiency skos:closeMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 -MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e3-binding protein deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e3-binding protein deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:255182 Pyruvate dehydrogenase E3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855553 +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e3-binding protein deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245349 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245400 MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch Orphanet:17 Fatal infantile lactic acidosis with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile lactic acidosis with methylmalonic aciduria MONDO:0009504 mitochondrial DNA depletion syndrome 9 skos:closeMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic iia with methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, fatal infantile, formerly -MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 +MONDO:0009506 specific granule deficiency skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245550 -MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855551 MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 +MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538396 +MONDO:0009507 Lambert syndrome skos:closeMatch Orphanet:1296 Lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855551 MONDO:0009507 Lambert syndrome skos:closeMatch OMIM:245550 lambert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia MONDO:0009508 Lambotte syndrome skos:closeMatch OMIM:245552 lambotte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, holoprosencephaly, and intrauterine growth retardation -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, acquired, with epilepsy -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052075 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282512 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fesd MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282512 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052075 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:98818 Landau-Kleffner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018887 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, focal, with speech disorder and with or without mental retardation MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym continuous spike and waves during slow-wave sleep syndrome -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fesd +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch NCIT:C168598 Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, focal, with speech disorder and with or without mental retardation -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:1945 Rolandic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:117100 centralopathic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign epilepsy of childhood with centrotemporal spikes -MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch Orphanet:725 Continuous spikes and waves during sleep semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245570 +MONDO:0009509 Landau-Kleffner syndrome skos:closeMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, acquired, with epilepsy +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch Orphanet:284139 Larsen-like syndrome, B3GAT3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245600 MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects +MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen syndrome, autosomal recessive, formerly -MONDO:0009511 Larsen-like syndrome, B3GAT3 type skos:closeMatch OMIM:245600 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245650 -MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855535 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 +MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855535 +MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245650 MONDO:0009512 lethal Larsen-like syndrome skos:closeMatch Orphanet:2371 Lethal Larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537872 MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328355 MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch Orphanet:2407 Laryngo-onycho-cutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245660 MONDO:0009513 laryngo-onycho-cutaneous syndrome skos:closeMatch OMIM:245660 epidermolysis bullosa, junctional 2c, laryngoonychocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngoonychocutaneous syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056710 -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023138 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245800 MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056710 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome MONDO:0009514 Laurence-Moon syndrome skos:closeMatch Orphanet:2377 Laurence-Moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007849 +MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laurence-moon syndrome MONDO:0009514 Laurence-Moon syndrome skos:closeMatch NCIT:C34760 Laurence-Moon Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome MONDO:0009514 Laurence-Moon syndrome skos:closeMatch OMIM:245800 laurence-moon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laurence-moon syndrome -MONDO:0009515 Norum disease skos:closeMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcat deficiency -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lcat deficiency -MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 +MONDO:0009515 Norum disease skos:closeMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lcat deficiency MONDO:0009515 Norum disease skos:closeMatch Orphanet:79293 Familial LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial lcat deficiency -MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leg, absence deformity of, with congenital cataract +MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245900 +MONDO:0009515 Norum disease skos:closeMatch Orphanet:650 LCAT deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lcat deficiency MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leg, absence deformity of, with congenital cataract +MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch OMIM:246000 leg, absence deformity of, with congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leg, absence deformity of, with congenital cataract MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246000 MONDO:0009516 absence deformity of leg-cataract syndrome skos:closeMatch Orphanet:2310 Absence deformity of leg-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855523 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265344 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246200 MONDO:0009517 Donohue syndrome skos:closeMatch OMIM:246200 donohue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 -MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:508 Leprechaunism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265344 +MONDO:0009517 Donohue syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009518 leprosy, susceptibility to, 3 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246300 -MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis x, acute disseminated MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-s disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009519 letterer-Siwe disease skos:closeMatch OMIM:246400 letterer-siwe disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis x, acute disseminated MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533587 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268601 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcl deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcl deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268601 +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533587 +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch NCIT:C84523 HMG-CoA Lyase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hmg-coa lyase deficiency -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch Orphanet:20 3-hydroxy-3-methylglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis +MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246500 MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch Orphanet:1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855504 -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis -MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome skos:closeMatch OMIM:246500 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis -MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246550 MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855502 -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb defects, distal transverse, with mental retardation and spasticity +MONDO:0009523 Lichtenstein syndrome skos:closeMatch Orphanet:2390 Lichtenstein syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246550 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb defects, distal transverse, with mental retardation and spasticity +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch OMIM:246555 limb defects, distal transverse, with mental retardation and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb defects, distal transverse, with mental retardation and spasticity MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796001 MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome skos:closeMatch Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246555 -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf3 -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 -MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome MONDO:0009525 split hand-foot malformation 3 skos:closeMatch NCIT:C75121 Split-Hand/Foot Malformation Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal limb deficiencies-micrognathia syndrome MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shsf3 MONDO:0009525 split hand-foot malformation 3 skos:closeMatch OMIM:246560 split-hand/foot malformation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb deficiencies, distal, with micrognathia -MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fatco syndrome +MONDO:0009525 split hand-foot malformation 3 skos:closeMatch Orphanet:1307 Distal limb deficiencies-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246560 MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibular aplasia-tibial campomelia-oligosyndactyly syndrome +MONDO:0009526 fibular aplasia, tibial campomelia, and oligosyndactyly syndrome skos:exactMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fatco syndrome +MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246650 +MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and hl deficiency MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lpl and htgl deficiency -MONDO:0009527 lipase deficiency, combined skos:closeMatch OMIM:246650 lipase deficiency, combined semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency -MONDO:0009527 lipase deficiency, combined skos:closeMatch Orphanet:535453 Familial lipase maturation factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246650 -MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246700 -MONDO:0009528 chylomicron retention disease skos:closeMatch OMIM:246700 chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid transport defect of intestine MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 +MONDO:0009528 chylomicron retention disease skos:closeMatch OMIM:246700 chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid transport defect of intestine MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795956 +MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246700 MONDO:0009528 chylomicron retention disease skos:closeMatch Orphanet:71 Chylomicron retention disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535460 -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoamide dehydrogenase deficiency, lactic acidosis due to -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym e3 deficiency -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency -MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dld deficiency +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym e3 deficiency +MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoamide dehydrogenase deficiency, lactic acidosis due to MONDO:0009529 pyruvate dehydrogenase E3 deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246900 -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023795 -MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247100 +MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoid proteinosis of urbach and wiethe -MONDO:0009530 lipoid proteinosis skos:closeMatch OMIM:247100 lipoid proteinosis of urbach and wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe -MONDO:0009530 lipoid proteinosis skos:closeMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe +MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247100 MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyalinosis cutis et mucosae +MONDO:0009530 lipoid proteinosis skos:closeMatch Orphanet:530 Lipoid proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023795 +MONDO:0009530 lipoid proteinosis skos:closeMatch NCIT:C84829 Lipoid Proteinosis of Urbach and Wiethe semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoid proteinosis of urbach and wiethe MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247200 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068361 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch Orphanet:531 Miller-Dieker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265219 MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009532 Miller-Dieker lissencephaly syndrome skos:closeMatch OMIM:247200 miller-dieker lissencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miller-dieker syndrome chromosome region MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 -MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism-lymphedema syndrome MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535769 +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch OMIM:247410 lymphedema-hypoparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism-lymphedema syndrome +MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247410 MONDO:0009533 Dahlberg-Borer-Newcomer syndrome skos:closeMatch Orphanet:1563 Dahlberg-Borer-Newcomer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855477 +MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062997 MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264511 MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247610 -MONDO:0009537 lymphoid interstitial pneumonia skos:closeMatch Orphanet:79128 Lymphoid interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062997 MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym leukemia, acute lymphoblastic MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukemia, acute lymphoblastic +MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphomatous all MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247640 MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lall -MONDO:0009539 lymphoblastic leukemia, acute, with lymphomatous features skos:closeMatch OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphomatous all MONDO:0009540 chronic mucocutaneous candidiasis due to lymphokine deficiency skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247650 MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:247990 MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome skos:closeMatch Orphanet:2083 Prominent glabella-microcephaly-hypogenitalism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796024 @@ -11032,158 +11038,158 @@ MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMI MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, with ocular involvement MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch OMIM:248190 hypomagnesemia 5, renal, with or without ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement MONDO:0009548 renal hypomagnesemia 5 with ocular involvement skos:closeMatch Orphanet:2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248190 -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, juvenile MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd -MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, juvenile +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fundus flavimaculatus +MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stgd MONDO:0009549 severe early-childhood-onset retinal dystrophy skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248200 +MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, isolated renal MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis -MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, isolated renal MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248250 MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuria, childhood, self-limiting MONDO:0009550 renal hypomagnesemia 3 skos:closeMatch OMIM:248250 hypomagnesemia 3, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 3, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248300 -MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025221 MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de meleda -MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248340 +MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025221 +MONDO:0009552 mal de Meleda skos:closeMatch Orphanet:87503 Mal de Meleda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248300 MONDO:0009554 3MC syndrome 3 skos:closeMatch OMIM:248340 3mc syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malpuech facial clefting syndrome, formerly -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 -MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342793 +MONDO:0009554 3MC syndrome 3 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248340 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248360 +MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342793 +MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 MONDO:0009556 malonic aciduria skos:closeMatch Orphanet:943 Malonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535702 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch OMIM:248370 mandibuloacral dysplasia with iia a lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniomandibular dermatodysostosis -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy -MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch Orphanet:90153 Mandibuloacral dysplasia with type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535705 +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch NCIT:C123417 Mandibuloacral Dysplasia with Type A Lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type a lipodystrophy MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, autosomal recessive MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248390 MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009558 Treacher Collins syndrome 3 skos:closeMatch OMIM:248390 treacher collins syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis, treacher collins type, autosomal recessive -MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with mental retardation MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with mental retardation -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248450 -MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855425 +MONDO:0009559 mandibulofacial dysostosis with mental deficiency skos:closeMatch OMIM:248400 mandibulofacial dysostosis with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with mental retardation MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome MONDO:0009560 oculotrichoanal syndrome skos:closeMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label manitoba oculotrichoanal syndrome -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024748 -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855425 +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manitoba oculotrichoanal syndrome +MONDO:0009560 oculotrichoanal syndrome skos:closeMatch Orphanet:2717 Oculotrichoanal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248450 MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008363 -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, alpha b, lysosomal -MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-mannosidase b deficiency +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024748 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309288 Alpha-mannosidosis, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency +MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-mannosidase b deficiency MONDO:0009561 alpha-mannosidosis skos:closeMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, alpha b, lysosomal -MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:309282 Alpha-mannosidosis, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal alpha-d-mannosidase deficiency +MONDO:0009561 alpha-mannosidosis skos:closeMatch Orphanet:61 Alpha-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248500 +MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 +MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, beta a, lysosomal MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosidosis, beta a, lysosomal MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal beta-mannosidase deficiency -MONDO:0009562 beta-mannosidosis skos:closeMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mannosidosis, beta a, lysosomal -MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d044905 MONDO:0009562 beta-mannosidosis skos:closeMatch Orphanet:118 Beta-mannosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248510 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024776 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026817 -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keto acid decarboxylase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, classic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermediate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain alpha-keto acid dehydrogenase deficiency -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, thiamine-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain alpha-keto acid dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermediate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, classic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026817 MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:248600 maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maple syrup urine disorder, intermittent semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268173 Intermittent maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws -MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268184 Thiamine-responsive maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:268145 Classic maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248600 +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:2394 Pyruvate dehydrogenase E3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch OMIM:246900 dihydrolipoamide dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrolipoamide dehydrogenase deficiency +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 +MONDO:0009563 maple syrup urine disease skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008375 MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker syndrome -MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 +MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome +MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:248700 marden-walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marden-walker syndrome MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248700 +MONDO:0009564 Marden-Walker syndrome skos:closeMatch Orphanet:2461 Marden-Walker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535910 MONDO:0009564 Marden-Walker syndrome skos:closeMatch OMIM:191900 muckle-wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mws -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus with microcephaly and glomerulonephritis MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid habitus with microcephaly and glomerulonephritis +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus with microcephaly and glomerulonephritis MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855348 MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome skos:closeMatch Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248760 MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855347 MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch Orphanet:2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248770 MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid mental retardation syndrome, autosomal MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome skos:closeMatch OMIM:248770 marfanoid mental retardation syndrome, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marfanoid mental retardation syndrome, autosomal +MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024814 MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248800 MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marinesco-sjögren syndrome -MONDO:0009567 Marinesco-Sjogren syndrome skos:closeMatch Orphanet:559 Marinesco-Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024814 -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248900 -MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855346 MONDO:0009568 mast syndrome skos:closeMatch OMIM:248900 mast syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 21, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855346 +MONDO:0009568 mast syndrome skos:closeMatch Orphanet:101001 Autosomal recessive spastic paraplegia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248900 MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch Orphanet:2135 Hennekam-Beemer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248910 -MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous mastocytosis, conductive hearing loss and microtia MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous mastocytosis, conductive hearing loss and microtia -MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796038 +MONDO:0009569 Hennekam-Beemer syndrome skos:closeMatch OMIM:248910 cutaneous mastocytosis, conductive hearing loss and microtia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous mastocytosis, conductive hearing loss and microtia MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538158 +MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796038 MONDO:0009570 McDonough syndrome skos:closeMatch Orphanet:2471 McDonough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248950 -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mes -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel-gruber syndrome MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249000 -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysencephalia splanchnocystica MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome -MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch NCIT:C98978 Meckel-Gruber Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel-gruber syndrome -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, familial paroxysmal -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, recurrent +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyserositis, familial paroxysmal MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever -MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch NCIT:C84707 Familial Mediterranean Fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249100 MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever +MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial mediterranean fever MONDO:0009574 megalencephaly with dysmyelination skos:closeMatch OMIM:249240 megalencephaly with dysmyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly with diffuse white matter hypodensity +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249270 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 1 (megaloblastic anemia, diabetes mellitus, and deafness type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch OMIM:249270 thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine-responsive anemia syndrome -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249270 -MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome skos:closeMatch Orphanet:49827 Thiamine-responsive megaloblastic anemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536510 -MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megalocornea MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megalocornea -MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalocornea MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalocornea +MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megalocornea +MONDO:0009576 megalocornea skos:exactMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalocornea +MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796086 +MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249310 +MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuhauser syndrome MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea-mental retardation syndrome MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea-mental retardation syndrome -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch OMIM:249310 megalocornea-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuhauser syndrome -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249310 -MONDO:0009577 megalocornea-intellectual disability syndrome skos:closeMatch Orphanet:2479 Megalocornea-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796086 -MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis, neurocutaneous MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537387 -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanosis, neurocutaneous -MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromelanosis MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanosis, neurocutaneous +MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch OMIM:249400 melanosis, neurocutaneous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuromelanosis +MONDO:0009578 neurocutaneous melanocytosis skos:exactMatch NCIT:C175215 Neurocutaneous Melanosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurocutaneous melanosis MONDO:0009578 neurocutaneous melanocytosis skos:closeMatch Orphanet:2481 Neurocutaneous melanocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249400 -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borrone dermatocardioskeletal syndrome -MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frank-ter haar syndrome MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frank-ter haar syndrome +MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borrone dermatocardioskeletal syndrome MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch OMIM:249420 frank-ter haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome, autosomal recessive, formerly MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frank-ter haar syndrome MONDO:0009579 Frank-Ter Haar syndrome skos:closeMatch Orphanet:137834 Frank-Ter Haar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855305 @@ -11193,119 +11199,119 @@ MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch OMI MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249599 MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome skos:closeMatch Orphanet:3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855303 -MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249600 MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265249 MONDO:0009582 Mietens syndrome skos:closeMatch OMIM:249600 mental retardation syndrome, mietens-weber iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mietens-weber syndrome -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, congenital heart disorder, blepharophimosis, blepharoptosis, and hypoplastic teeth semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249620 +MONDO:0009582 Mietens syndrome skos:closeMatch Orphanet:2557 Mietens syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249600 MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796094 MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo blepharophimosis syndrome +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch OMIM:249620 ohdo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, congenital heart disorder, blepharophimosis, blepharoptosis, and hypoplastic teeth semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009583 blepharophimosis - intellectual disability syndrome, Ohdo type skos:closeMatch Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249620 MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796080 MONDO:0009584 intellectual disability, Buenos-Aires type skos:closeMatch Orphanet:3079 Intellectual disability, Buenos-Aires type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249630 -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-mercaptolactate cysteine disulfiduria -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249650 MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796055 -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disulfiduria, mixed -MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mercaptolactate-cysteine disulfiduria +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249650 +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-mercaptolactate cysteine disulfiduria MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mercaptolactate-cysteine disulfiduria +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mercaptolactate-cysteine disulfiduria +MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria skos:closeMatch OMIM:249650 mercaptolactate-cysteine disulfiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disulfiduria, mixed MONDO:0009587 mesoaxial hexadactyly and cardiac malformation skos:closeMatch OMIM:249670 mesoaxial hexadactyly and cardiac malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mexican cardiomelic dysplasia -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432230 -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249700 -MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch OMIM:249700 langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis, homozygous MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537267 -MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249710 +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249700 +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch OMIM:249700 langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyschondrosteosis, homozygous +MONDO:0009588 Langer mesomelic dysplasia skos:closeMatch Orphanet:2632 Langer mesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432230 MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mesomelic limb shortening and bowing +MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch Orphanet:2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249710 MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome skos:closeMatch OMIM:249710 mesomelic limb shortening and bowing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic limb shortening and bowing MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249900 -MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin b deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, juvenile +MONDO:0009590 metachromatic leukodystrophy due to saposin B deficiency skos:closeMatch OMIM:249900 metachromatic leukodystrophy due to saposin B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsa deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, adult -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroside sulfatase deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral sclerosis, diffuse, metachromatic form +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, late infantile MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukoencephalopathy +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral sclerosis, diffuse, metachromatic form +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebroside sulfatase deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, adult +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoarylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, late infantile -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoarylsulfatase a deficiency -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukoencephalopathy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250100 -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metachromatic leukodystrophy, juvenile MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch NCIT:C61251 Metachromatic Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylsulfatase a deficiency MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mld +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250100 +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855243 MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch OMIM:250215 metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wedge-shaped epiphyses of knees MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537350 -MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855243 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 +MONDO:0009592 metaphyseal acroscyphodysplasia skos:closeMatch Orphanet:1240 Metaphyseal acroscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250215 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 -MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, congenital lethal +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch OMIM:250220 spondylometaphyseal dysplasia, sedaghatian iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855229 +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855217 MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type skos:closeMatch Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250230 -MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250250 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia, mckusick type MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 +MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250250 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535916 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069596 MONDO:0009595 cartilage-hair hypoplasia skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220748 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432225 -MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537353 +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250400 +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type skos:closeMatch Orphanet:2501 Metaphyseal chondrodysplasia, Spahr type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432225 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-short stature-retinitis pigmentosa syndrome -MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250410 +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855188 MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without skeletal anomalies MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa with or without skeletal anomalies MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome skos:closeMatch OMIM:250410 retinitis pigmentosa with or without skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with retinitis pigmentosa -MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysostosis, mental retardation, and conductive deafness MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250420 MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855175 -MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency -MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia variant, skeletal manifestations only +MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome skos:closeMatch OMIM:250420 metaphyseal dysostosis, impaired intellectual development, and conductive deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal dysostosis, mental retardation, and conductive deafness MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch Orphanet:175 Cartilage-hair hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250460 -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-hydroxyisobutyryl coa deacylase deficiency -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect +MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia variant, skeletal manifestations only +MONDO:0009601 metaphyseal dysplasia without hypotrichosis skos:closeMatch OMIM:250460 metaphyseal dysplasia without hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methacrylic acid toxicity +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch Orphanet:88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250620 -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250700 +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch OMIM:250620 3-hydroxyisobutyryl-coa hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-hydroxyisobutyryl coa deacylase deficiency +MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methemoglobin reductase deficiency -MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadph-dependent methemoglobin reductase deficiency MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tpnh-methemoglobin reductase deficiency -MONDO:0009604 methemoglobin reductase deficiency skos:exactMatch NCIT:C101043 Methemoglobin Reductase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label methemoglobin reductase deficiency -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methemoglobinemia and ambiguous genitalia +MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch OMIM:250700 methemoglobin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadph-dependent methemoglobin reductase deficiency +MONDO:0009604 methemoglobin reductase deficiency skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250700 MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia and ambiguous genitalia MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia due to deficiency of cytochrome b5, formerly -MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated type 17,20-lyase deficiency, pure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009605 methemoglobinemia type 4 skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250790 +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methemoglobinemia and ambiguous genitalia +MONDO:0009605 methemoglobinemia type 4 skos:closeMatch OMIM:250790 methemoglobinemia and ambiguous genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isolated type 17,20-lyase deficiency, pure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-cytochrome b5 reductase deficiency MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nadh-dependent methemoglobin reductase deficiency MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch OMIM:250800 methemoglobinemia due to deficiency of methemoglobin reductase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methemoglobinemia, congenital, autosomal recessive MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250800 -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia, isolated persistent -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methionine adenosyltransferase i/iii deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat deficiency MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine adenosyltransferase i/iii deficiency MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:exactMatch OMIM:203750 alpha-methylacetoacetic aciduria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mat deficiency -MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250850 +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia, isolated persistent +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch OMIM:250850 methionine adenosyltransferase i/iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methionine adenosyltransferase i/iii deficiency MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mat i/iii deficiency +MONDO:0009607 methionine adenosyltransferase deficiency skos:closeMatch Orphanet:168598 Brain demyelination due to methionine adenosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250850 MONDO:0009608 methionine malabsorption syndrome skos:closeMatch OMIM:250900 methionine malabsorption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-strang disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009608 methionine malabsorption syndrome skos:closeMatch OMIM:250900 methionine malabsorption syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oasthouse urine disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch OMIM:250940 homocystinuria-megaloblastic anemia, cblg complementation iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methionine synthase deficiency MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 -MONDO:0009609 methylcobalamin deficiency type cblG skos:closeMatch Orphanet:2170 Methylcobalamin deficiency type cblG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250940 MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch OMIM:250950 3-methylglutaconic aciduria, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-mg-coa-hydratase deficiency MONDO:0009610 3-methylglutaconic aciduria type 1 skos:closeMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconyl-coa hydratase deficiency @@ -11321,217 +11327,217 @@ MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855114 MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency skos:closeMatch Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251000 -MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 -MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 +MONDO:0009613 methylmalonic aciduria, cblA type skos:closeMatch Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251100 MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 +MONDO:0009614 methylmalonic aciduria, cblB type skos:closeMatch Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251110 +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251120 +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonyl-coa epimerase deficiency MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa racemase deficiency MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria iii, formerly MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa epimerase deficiency with sepiapterin reductase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch OMIM:251120 methylmalonyl-coa epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonyl-coa racemase deficiency -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251120 -MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency skos:closeMatch Orphanet:308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855100 -MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251190 MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855089 +MONDO:0009616 microcephalic primordial dwarfism, Toriello type skos:closeMatch Orphanet:2643 Microcephalic primordial dwarfism, Toriello type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537321 MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251200 -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation with microcephaly and mental retardation -MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation syndrome MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc syndrome +MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation syndrome +MONDO:0009617 microcephaly 1, primary, autosomal recessive skos:closeMatch OMIM:251200 microcephaly 1, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature chromosome condensation with microcephaly and mental retardation MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855080 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251220 MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536711 -MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-cardiomyopathy +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch Orphanet:2515 Microcephaly-cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251220 MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cardiomyopathy -MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251230 +MONDO:0009618 microcephaly-cardiomyopathy syndrome skos:closeMatch OMIM:251220 microcephaly-cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly-cardiomyopathy MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855079 +MONDO:0009619 microcephaly-micromelia syndrome skos:closeMatch Orphanet:572768 Microcephaly-micromelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251230 +MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with chemotactic defect and transient hypogammaglobulinemia +MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with chemotactic defect and transient hypogammaglobulinemia MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251240 MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch Orphanet:3132 Say-Barber-Miller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536618 -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with chemotactic defect and transient hypogammaglobulinemia -MONDO:0009620 Say-Barber-Miller syndrome skos:closeMatch OMIM:251240 microcephaly with chemotactic defect and transient hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with chemotactic defect and transient hypogammaglobulinemia -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with cervical spine fusion anomalies -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with cervical spine fusion anomalies MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251250 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 -MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796066 MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537325 +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch Orphanet:2522 Microcephaly-cervical spine fusion anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796066 +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly with cervical spine fusion anomalies +MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome skos:closeMatch OMIM:251250 microcephaly with cervical spine fusion anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with cervical spine fusion anomalies MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome -MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796063 MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251255 +MONDO:0009622 Jawad syndrome skos:closeMatch Orphanet:313795 Jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796063 +MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelly syndrome +MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jawad syndrome MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with mental retardation and digital anomalies MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jawad syndrome -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jawad syndrome -MONDO:0009622 Jawad syndrome skos:closeMatch OMIM:251255 jawad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelly syndrome -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398791 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251260 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsyndromal microcephaly, autosomal recessive, with normal intelligence -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067857 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v1 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, microcephaly, and chromosomal instability +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsyndromal microcephaly, autosomal recessive, with normal intelligence MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v2 -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia variant v1 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251260 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067857 +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398791 MONDO:0009623 Nijmegen breakage syndrome skos:exactMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nbs -MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome +MONDO:0009623 Nijmegen breakage syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049932 MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive chorioretinopathy-microcephaly syndrome +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251270 MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251270 +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:closeMatch NCIT:C129306 Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement +MONDO:0009624 microcephaly and chorioretinopathy 1 skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 skos:closeMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, seizures, spasticity, and brain calcifications -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band-like calcification with simplified gyration and polymicrogyria -MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3489725 MONDO:0009626 pseudo-TORCH syndrome skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital intrauterine infection-like syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galloway syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 +MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pseudo-torch syndrome +MONDO:0009626 pseudo-TORCH syndrome skos:exactMatch OMIM:251290 pseudo-torch syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudo-torch syndrome MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795949 +MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537548 +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym galloway syndrome MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome +MONDO:0009627 Galloway-Mowat syndrome skos:exactMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities -MONDO:0009627 Galloway-Mowat syndrome skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desbuquois syndrome MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251450 -MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label desbuquois syndrome MONDO:0009629 Desbuquois dysplasia 1 skos:closeMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desbuquois dysplasia, kim variant MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch OMIM:251505 microphthalmia, isolated, with coloboma 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst -MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251505 -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251600 -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0009630 microphthalmia, isolated, with coloboma 4 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with colobomatous cyst MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcop +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, autosomal recessive +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251600 +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0009631 isolated microphthalmia 1 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:closeMatch Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251750 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251850 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341306 MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:2290 Microvillus inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068494 +MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital familial protracted diarrhea with enterocyte brush-border abnormalities MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvillus atrophy, congenital MONDO:0009635 microvillus inclusion disease skos:closeMatch OMIM:251850 diarrhea 2, with microvillus atrophy, with or without cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 2, with microvillus atrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009635 microvillus inclusion disease skos:closeMatch Orphanet:73014 Intractable diarrhea of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intractable diarrhea of infancy -MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, hepatocerebral form due to dguok deficiency MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch Orphanet:279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251880 -MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 +MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009636 mitochondrial DNA depletion syndrome 3 skos:closeMatch OMIM:251880 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 3 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027710 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162670 MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 +MONDO:0009637 inborn mitochondrial myopathy skos:closeMatch Orphanet:206966 Mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017240 MONDO:0009637 inborn mitochondrial myopathy skos:exactMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mitochondrial cytopathy MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252100 -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch Orphanet:2751 Orofaciodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 2 MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch OMIM:252100 mohr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 2 semapv:RegularExpressionReplacement MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group a MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group a MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252150 +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch Orphanet:308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854988 MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of -MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A skos:closeMatch OMIM:252150 molybdenum cofactor deficiency, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group a -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854989 -MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group b MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group b +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch OMIM:252160 molybdenum cofactor deficiency, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group b +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854989 +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252160 MONDO:0009645 chronic mucocutaneous candidiasis due to monocyte chemotactic disorder skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252250 MONDO:0009646 Monosomy 7 myelodysplasia and leukemia syndrome 1 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252270 MONDO:0009647 Morquio syndrome C skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252300 -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label motor neuropathy, peripheral, with dysautonomia -MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym motor neuropathy, peripheral, with dysautonomia MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536988 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252320 MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854961 +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym motor neuropathy, peripheral, with dysautonomia +MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome skos:closeMatch OMIM:252320 motor neuropathy, peripheral, with dysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label motor neuropathy, peripheral, with dysautonomia +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spontaneous occlusion of the circle of willis +MONDO:0009649 moyamoya disease 1 skos:closeMatch NCIT:C84895 Moyamoya Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536991 -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch NCIT:C84895 Moyamoya Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009649 moyamoya disease 1 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252350 -MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020725 MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 +MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252500 MONDO:0009650 mucolipidosis type II skos:closeMatch Orphanet:576 Mucolipidosis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538602 -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009650 mucolipidosis type II skos:closeMatch OMIM:252500 mucolipidosis 2 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 2 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, variant form +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854896 MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:423470 Mucolipidosis type III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, complementation group c -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 gamma semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, iranian variant form +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, complementation group c MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 -MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch OMIM:252605 mucolipidosis 3 gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis iii, variant form +MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252650 +MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238286 MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialolipidosis +MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009653 mucolipidosis type IV skos:closeMatch OMIM:252650 mucolipidosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238286 -MONDO:0009653 mucolipidosis type IV skos:closeMatch Orphanet:578 Mucolipidosis type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252650 -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency +MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086647 MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfamidase deficiency -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252900 -MONDO:0009655 mucopolysaccharidosis type 3A skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252920 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086648 MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naglu deficiency -MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009656 mucopolysaccharidosis type 3B skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086649 MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:79271 Sanfilippo syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency -MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252930 MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sanfilippo syndrome c -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglucosamine-6-sulfatase deficiency -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009657 mucopolysaccharidosis type 3C skos:closeMatch OMIM:252930 mucopolysaccharidosis, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:79272 Sanfilippo syndrome type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086650 -MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252940 +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 3d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009658 mucopolysaccharidosis type 3D skos:closeMatch OMIM:252940 mucopolysaccharidosis, iia 3d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglucosamine-6-sulfatase deficiency MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 -MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253000 +MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253010 MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086652 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026709 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056892 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 -MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026709 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009087 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylgalactosamine-4-sulfatase deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253200 MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency +MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch OMIM:253200 mucopolysaccharidosis, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009661 mucopolysaccharidosis type 6 skos:closeMatch Orphanet:583 Mucopolysaccharidosis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arsb deficiency MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056893 MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopolysaccharidosis type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016538 @@ -11541,480 +11547,480 @@ MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch Orphanet:584 Mucopoly MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency MONDO:0009662 mucopolysaccharidosis type 7 skos:closeMatch OMIM:253220 mucopolysaccharidosis, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gusb deficiency -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524582 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050336 +MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931895 MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253250 +MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524582 MONDO:0009664 mulibrey nanism skos:closeMatch OMIM:253250 mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pericardial constriction and growth failure -MONDO:0009664 mulibrey nanism skos:closeMatch Orphanet:2576 Mulibrey nanism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931895 -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 +MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253260 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 +MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028921 MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071434 -MONDO:0009665 biotinidase deficiency skos:closeMatch Orphanet:79241 Biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220754 -MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, late-onset MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, juvenile-onset -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, neonatal form -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268581 -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253270 +MONDO:0009665 biotinidase deficiency skos:closeMatch OMIM:253260 biotinidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, late-onset +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, early onset MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlcs deficiency +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253270 MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 -MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, early onset -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomgnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268581 +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch Orphanet:79242 Holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d028922 +MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch OMIM:253270 holocarboxylase synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple carboxylase deficiency, neonatal form MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 -MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253290 +MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253280 +MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 skos:closeMatch OMIM:253280 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomgnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854678 +MONDO:0009668 lethal multiple pterygium syndrome skos:closeMatch Orphanet:33108 Lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253290 +MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 1 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253300 -MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch Orphanet:83330 Proximal spinal muscular atrophy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 1 MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma, infantile acute form MONDO:0009669 spinal muscular atrophy, type 1 skos:closeMatch OMIM:253300 spinal muscular atrophy, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, infantile MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253310 -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854664 -MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:1486 Lethal congenital contracture syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537194 MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch Orphanet:294965 Lethal congenital contracture syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs +MONDO:0009670 lethal congenital contracture syndrome 1 skos:closeMatch OMIM:253310 lethal congenital contracture syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lccs MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253320 MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch Orphanet:3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854663 MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chudley syndrome MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome skos:closeMatch OMIM:253320 multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, juvenile MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kugelberg-welander syndrome +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular atrophy, juvenile MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, mild childhood and adolescent form +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch OMIM:253400 spinal muscular atrophy, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 3 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 3 semapv:RegularExpressionReplacement -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 3 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152109 -MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:83419 Proximal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch NCIT:C85076 Spinal Muscular Atrophy of Childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy of childhood -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009672 spinal muscular atrophy, type III skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253400 MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 2 -MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch OMIM:253550 spinal muscular atrophy, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 +MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:83418 Proximal spinal muscular atrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 2 semapv:RegularExpressionReplacement MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch NCIT:C156310 Spinal Muscular Atrophy Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy type 2 MONDO:0009673 spinal muscular atrophy, type II skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253550 -MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, pelvofemoral MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myositis, eosinophilic +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch OMIM:253600 muscular dystrophy, limb-girdle, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, pelvofemoral MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253600 MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B skos:closeMatch Orphanet:268 Dysferlin-related limb-girdle muscular dystrophy R2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253601 -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoglycan, gamma, deficiency of -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253700 MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmda -MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, duchenne-like MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalin deficiency, secondary +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, duchenne-like MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410173 +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253700 +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C skos:closeMatch OMIM:253700 muscular dystrophy, limb-girdle, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoglycan, gamma, deficiency of +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410174 +MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy, fukuyama type MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:272 Congenital muscular dystrophy, Fukuyama type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410174 MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:253800 -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931578 -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850864 -MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254000 MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with infantile cataract and hypogonadism MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch OMIM:254000 muscular dystrophy, congenital, with infantile cataract and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with infantile cataract and hypogonadism -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, scleroatonic +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254000 +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850864 +MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome skos:closeMatch Orphanet:1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931578 MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich congenital muscular dystrophy -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 -MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ullrich congenital muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich scleroatonic muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, scleroatonic MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch OMIM:254090 ullrich congenital muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ullrich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2h +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch NCIT:C123438 Ullrich Congenital Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ullrich congenital muscular dystrophy +MONDO:0009681 Ullrich congenital muscular dystrophy 1 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254090 MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254110 +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2h MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H skos:closeMatch Orphanet:1878 TRIM32-related limb-girdle muscular dystrophy R8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270968 MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement +MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 +MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miyoshi myopathy +MONDO:0009685 Miyoshi myopathy skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement MONDO:0009685 Miyoshi myopathy skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009685 Miyoshi myopathy skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537480 +MONDO:0009685 Miyoshi myopathy skos:exactMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym miyoshi myopathy MONDO:0009687 myasthenia, congenital, refractory to acetylcholinesterase inhibitors skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254190 -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254200 -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028417 -MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026896 MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028417 +MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254200 +MONDO:0009688 myasthenia gravis skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009157 MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, formerly +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia2, formerly MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia gravis, familial infantile, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, formerly +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 6, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch OMIM:254210 myasthenic syndrome, congenital, 6, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, presynaptic, congenital, associated with episodic apnea MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 MONDO:0009689 congenital myasthenic syndrome 6 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254210 -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, limb-girdle, familial, formerly MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ib, formerly +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, limb-girdle, familial, formerly MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch OMIM:254300 myasthenic syndrome, congenital, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic myopathy, formerly +MONDO:0009690 congenital myasthenic syndrome 10 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254300 MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic mycosis fungoides MONDO:0009691 mycosis fungoides skos:closeMatch Orphanet:2584 Classic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254400 -MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 +MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis +MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia -MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myelofibrosis with myeloid metaplasia -MONDO:0009692 primary myelofibrosis skos:closeMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis -MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C36212 Bone Marrow Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone marrow fibrosis MONDO:0009692 primary myelofibrosis skos:closeMatch NCIT:C3248 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis +MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001815 MONDO:0009692 primary myelofibrosis skos:closeMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254450 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis +MONDO:0009692 primary myelofibrosis skos:exactMatch NCIT:C36212 Bone Marrow Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bone marrow fibrosis MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026764 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009101 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:29073 Multiple myeloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028228 -MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 +MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, systemic +MONDO:0009693 plasma cell myeloma skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254500 MONDO:0009693 plasma cell myeloma skos:closeMatch NCIT:C158963 AL Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al amyloidosis -MONDO:0009693 plasma cell myeloma skos:closeMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398595 MONDO:0009694 myeloperoxidase deficiency skos:closeMatch Orphanet:2587 Myeloperoxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254600 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym janz syndrome +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270853 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071082 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020190 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254770 -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym janz syndrome -MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071082 MONDO:0009696 juvenile myoclonic epilepsy skos:closeMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym petit mal, impulsive +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melf +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 +MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054030 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254780 -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020192 MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751783 -MONDO:0009697 Lafora disease skos:closeMatch Orphanet:501 Lafora disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054030 -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epm2 -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lafora body disorder semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009697 Lafora disease skos:closeMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melf -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751785 -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054895 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive myoclonic epilepsy MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054895 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751785 MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020194 +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baltic myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive myoclonic epilepsy -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uld -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg -MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy of unverricht and lundborg MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch NCIT:C179710 Myoclonic Epilepsy of Unverricht and Lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy of unverricht and lundborg +MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baltic myoclonic epilepsy MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 4, with or without renal failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch Orphanet:163696 Action myoclonus-renal failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 +MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394532 Multiple acyl-CoA dehydrogenase deficiency, mild type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 -MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch OMIM:255100 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency +MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255100 +MONDO:0009703 myopathy with abnormal lipid metabolism skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipid storage myopathy +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, late-onset MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, myopathic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, late-onset -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833508 MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 -MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833508 +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255110 +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form skos:closeMatch OMIM:255110 carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, myopathic, stress-induced semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1829703 MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch Orphanet:156 Carnitine palmitoyl transferase 1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255120 -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with lactic acidosis, hereditary -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria due to abnormal glycolysis +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency skos:closeMatch OMIM:255120 carnitine palmitoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 1a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850718 +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255125 MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with deficiency of succinate dehydrogenase and aconitase +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria due to abnormal glycolysis MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with lactic acidosis, hereditary -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255125 -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch Orphanet:43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850718 -MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal recessive +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency skos:closeMatch OMIM:255125 myopathy with lactic acidosis, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with lactic acidosis, hereditary MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255160 +MONDO:0009708 myopathy, myosin storage, autosomal recessive skos:closeMatch OMIM:255160 congenital myopathy 7b, myosin storage, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal recessive MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal recessive -MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255200 MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch OMIM:255200 myopathy, centronuclear, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal recessive -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043461 +MONDO:0009709 myopathy, centronuclear, 2 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255200 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028655 -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 -MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 -MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten-turner congenital myopathy +MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043461 MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label batten-turner congenital myopathy +MONDO:0009710 Thomsen and Becker disease skos:closeMatch OMIM:255300 batten-turner congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym batten-turner congenital myopathy +MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:206973 Congenital myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 +MONDO:0009710 Thomsen and Becker disease skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027127 MONDO:0009711 congenital fiber-type disproportion myopathy skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546264 +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label minicore myopathy with external ophthalmoplegia +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with external ophthalmoplegia MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiminicore disorder with external ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850674 MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch NCIT:C150608 Minicore Myopathy with External Ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label minicore myopathy with external ophthalmoplegia -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicore myopathy with external ophthalmoplegia +MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minicore myopathy with external ophthalmoplegia +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, autosomal recessive MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, congenital, of lowenthal MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myosclerotic -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosclerosis, autosomal recessive -MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255600 MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064584 -MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myosclerosis, autosomal recessive -MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, generalized +MONDO:0009714 myosclerosis skos:closeMatch Orphanet:289380 Myosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255600 +MONDO:0009714 myosclerosis skos:closeMatch OMIM:255600 myosclerosis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myosclerosis, autosomal recessive MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym becker disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch OMIM:255700 myotonia congenita, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, generalized MONDO:0009715 myotonia congenita, autosomal recessive skos:closeMatch Orphanet:614 Thomsen and Becker disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255700 -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255710 -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 -MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930978 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia with skeletal abnormalities and mental retardation +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch OMIM:255710 myotonia with skeletal abnormalities and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia with skeletal abnormalities and mental retardation +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255710 +MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930978 MONDO:0009716 Richieri Costa-da Silva syndrome skos:closeMatch Orphanet:3101 Richieri Costa-da Silva syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535675 -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities -MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel-aberfeld syndrome -MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome +MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome MONDO:0009717 Schwartz-Jampel syndrome skos:exactMatch OMIM:245160 kniest-like dysplasia with pursed lips and ectopia lentis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym burton syndrome +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036391 +MONDO:0009717 Schwartz-Jampel syndrome skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxoma, intracardiac +MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial myxoma, familial +MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myxoma, intracardiac +MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255960 MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850635 -MONDO:0009719 familial atrial myxoma skos:closeMatch Orphanet:615 Familial atrial myxoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538262 -MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myxoma, intracardiac -MONDO:0009719 familial atrial myxoma skos:closeMatch OMIM:255960 myxoma, intracardiac semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial myxoma, familial MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850627 MONDO:0009720 Keipert syndrome skos:closeMatch Orphanet:2662 Keipert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301026 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850626 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255990 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 MONDO:0009721 Nathalie syndrome skos:closeMatch Orphanet:2663 Nathalie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538342 -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850625 -MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255995 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538343 +MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:168572 Native American myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255995 MONDO:0009722 Bailey-Bloch congenital myopathy skos:closeMatch Orphanet:206569 Immune-mediated necrotizing myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nam MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062950 +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023264 +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007888 MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 -MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 MONDO:0009723 Leigh syndrome skos:closeMatch OMIM:256000 leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym necrotizing encephalopathy, infantile subacute, of leigh +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256000 +MONDO:0009723 Leigh syndrome skos:closeMatch Orphanet:506 Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062950 MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256020 MONDO:0009724 nail-patella-like renal disease skos:closeMatch Orphanet:2613 Nail-patella-like renal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403548 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 -MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 +MONDO:0009725 nemaline myopathy 2 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256030 MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakajo-nishimura syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jmp syndrome -MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nakajo-nishimura syndrome -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850555 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850554 +MONDO:0009726 proteosome-associated autoinflammatory syndrome skos:exactMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256050 MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym de la chapelle dysplasia -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 -MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0009727 atelosteogenesis type II skos:closeMatch OMIM:256050 atelosteogenesis, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neonatal osseous dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850554 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850555 +MONDO:0009727 atelosteogenesis type II skos:closeMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535395 MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855681 -MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 -MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis, familial juvenile +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:607100 NPHP1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 +MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:256100 nephronophthisis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis, familial juvenile +MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256100 +MONDO:0009728 nephronophthisis 1 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855681 MONDO:0009728 nephronophthisis 1 skos:closeMatch OMIM:604639 NXPH1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph1 -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, deafness, and hyperparathyroidism -MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy, deafness, and hyperparathyroidism MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, deafness, and hyperparathyroidism MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536401 MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256120 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis with deafness and urinary tract and digital malformations -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrosis with deafness and urinary tract and digital malformations -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 -MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256200 +MONDO:0009729 nephropathy - deafness - hyperparathyroidism syndrome skos:closeMatch Orphanet:2668 Nephropathy-deafness-hyperparathyroidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850553 MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850552 +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256200 MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch Orphanet:2669 Nephrosis-deafness-urinary tract-digital malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536402 +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis with deafness and urinary tract and digital malformations +MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome skos:closeMatch OMIM:256200 nephrosis with deafness and urinary tract and digital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrosis with deafness and urinary tract and digital malformations MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0403399 -MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060740 MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch OMIM:256300 nephrotic syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, congenital +MONDO:0009732 congenital nephrotic syndrome, Finnish type skos:closeMatch Orphanet:839 Congenital nephrotic syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256300 MONDO:0009733 nephrotic syndrome, type 4 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256370 -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglycemia, hyperinsulinemic, of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis of pancreas -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglycemia, hyperinsulinemic, of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial, with pancreatic nesidioblastosis -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis of pancreas MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch Orphanet:276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256450 MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym netherton disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062909 +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym comel-netherton syndrome -MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neth +MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym netherton disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, with hypotrichosis and hyper-ige +MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062909 MONDO:0009735 Netherton syndrome skos:closeMatch Orphanet:634 Netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256500 +MONDO:0009735 Netherton syndrome skos:closeMatch OMIM:256500 netherton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neth MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256520 MONDO:0009736 Neu-Laxova syndrome 1 skos:closeMatch OMIM:256520 neu-laxova syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome -MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268233 +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppca deficiency MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cathepsin a deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppca deficiency +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protective protein/cathepsin a deficiency +MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase/beta-galactosidase expression MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536411 MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal protective protein deficiency -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase/beta-galactosidase expression -MONDO:0009737 galactosialidosis skos:closeMatch OMIM:256540 galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protective protein/cathepsin a deficiency MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256540 -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neug deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu deficiency +MONDO:0009737 galactosialidosis skos:closeMatch Orphanet:351 Galactosialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268233 MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu1 deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein neuraminidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialidase deficiency -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherry red spot--myoclonus syndrome MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonus--cherry red spot syndrome -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 1 semapv:RegularExpressionReplacement +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neug deficiency MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888317 MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomucopolysaccharidosis -MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 -MONDO:0009738 sialidosis type 2 skos:closeMatch NCIT:C125596 Neuraminidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256550 +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:309279 Glycoproteinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycoproteinosis MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 -MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 +MONDO:0009738 sialidosis type 2 skos:closeMatch NCIT:C125596 Neuraminidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuraminidase deficiency +MONDO:0009738 sialidosis type 2 skos:closeMatch Orphanet:87876 Sialidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256150 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796088 +MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537388 +MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch Orphanet:2673 Neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256690 MONDO:0009740 neurofaciodigitorenal syndrome skos:closeMatch OMIM:256690 neurofaciodigitorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfdr syndrome MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256700 MONDO:0009741 neuroblastoma, susceptibility to, 1 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027819 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 -MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256710 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536203 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elejalde disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:33445 Neuroectodermal melanolysosomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 MONDO:0009742 neuroectodermal melanolysosomal disease skos:closeMatch Orphanet:221054 Acrocephalopolydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860157 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile neuronal ceroid lipofuscinosis +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, infantile +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:228329 CLN1 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, infantile -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label infantile neuronal ceroid lipofuscinosis -MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79263 Infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym santavuori-haltia disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256730 MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ncl MONDO:0009744 neuronal ceroid lipofuscinosis 1 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital neuronal ceroid lipofuscinosis -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile, finnish variant -MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5, variable age at onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish vlincl +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch OMIM:256731 ceroid lipofuscinosis, neuronal, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256800 -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020074 -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln5 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:228360 CLN5 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 +MONDO:0009745 neuronal ceroid lipofuscinosis 5 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256731 MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch OMIM:256800 insensitivity to pain, congenital, with anhidrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory, with anhidrosis -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym navajo familial neurogenic arthropathy +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020074 +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary sensory and autonomic neuropathy type 4 semapv:RegularExpressionReplacement +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 skos:closeMatch Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256800 MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009747 Navajo neurohepatopathy skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256810 MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 6 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch Orphanet:255229 Navajo neurohepatopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256810 MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive -MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 +MONDO:0009747 Navajo neurohepatopathy skos:closeMatch OMIM:256810 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym navajo familial neurogenic arthropathy MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256840 -MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256850 +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch Orphanet:139578 Mutilating hereditary sensory neuropathy with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850395 +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia skos:closeMatch OMIM:256840 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive +MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gan +MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch OMIM:256850 giant axonal neuropathy 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant axonal neuropathy type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gan -MONDO:0009749 giant axonal neuropathy 1 skos:exactMatch OMIM:605379 GAN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gan -MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn with excessive myelin outfolding, autosomal recessive +MONDO:0009749 giant axonal neuropathy 1 skos:closeMatch Orphanet:643 Giant axonal neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256850 MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with excessive myelin folding, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive skos:closeMatch OMIM:256855 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn with excessive myelin outfolding, autosomal recessive MONDO:0009754 neutropenia, lethal congenital, with eosinophilia skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257100 +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268242 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257200 MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052536 -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch Orphanet:77292 Infantile neurovisceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268242 -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelin lipidosis -MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, protracted neurovisceral semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelinase deficiency +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, protracted neurovisceral semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009756 Niemann-Pick disease type A skos:closeMatch OMIM:257200 niemann-pick disease, iia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphingomyelin lipidosis MONDO:0009756 Niemann-Pick disease type A skos:closeMatch NCIT:C126561 Niemann-Pick Disease, Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, chronic neuronopathic form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder without sphingomyelinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder with cholesterol esterification block semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, chronic neuronopathic form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurovisceral storage disorder with vertical supranuclear ophthalmoplegia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch OMIM:257220 niemann-pick disease, iia c1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, subacute juvenile form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C126864 Niemann-Pick Disease, Type C1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257220 MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C85214 Niemann-Pick Disease, Type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, complete, autosomal recessive -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257220 +MONDO:0009757 Niemann-Pick disease, type C1 skos:closeMatch NCIT:C126864 Niemann-Pick Disease, Type C1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, complete, autosomal recessive +MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0009758 congenital stationary night blindness 1B skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257270 -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch OMIM:257300 mosaic variegated aneuploidy syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mva syndrome -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257300 MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:closeMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009759 mosaic variegated aneuploidy syndrome 1 skos:exactMatch NCIT:C128192 Mosaic Variegated Aneuploidy Syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic variegated aneuploidy syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement -MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257320 -MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuchal bleb, familial +MONDO:0009760 Norman-Roberts syndrome skos:closeMatch Orphanet:89844 Lissencephaly syndrome, Norman-Roberts type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796089 +MONDO:0009760 Norman-Roberts syndrome skos:exactMatch Orphanet:51577 Cobblestone lissencephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nuchal bleb, familial MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic hygroma, fetal +MONDO:0009761 cystic hygroma skos:closeMatch OMIM:257350 nuchal bleb, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuchal bleb, familial MONDO:0009761 cystic hygroma skos:closeMatch Orphanet:79489 Macrocystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocystic lymphatic malformation MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch OMIM:257500 obesity-hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pickwickian syndrome MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch OMIM:257550 ocular motor apraxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular motor apraxia @@ -12024,560 +12030,560 @@ MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocu MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 MONDO:0009764 ocular motor apraxia, Cogan type skos:closeMatch Orphanet:1125 Ocular motor apraxia, Cogan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537423 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 +MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257790 MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931646 -MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus skos:closeMatch Orphanet:2720 Oculocerebral hypopigmentation syndrome, Preus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537866 -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocerebral syndrome with hypopigmentation -MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculocerebral syndrome with hypopigmentation MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kramer syndrome +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculocerebral syndrome with hypopigmentation MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257800 -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodentoosseous dysplasia, autosomal recessive -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257850 -MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oddd, autosomal recessive +MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type skos:closeMatch OMIM:257800 oculocerebral syndrome with hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocerebral syndrome with hypopigmentation MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odod, autosomal recessive -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopalatocerebral syndrome +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oddd, autosomal recessive +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch Orphanet:2710 Oculodentodigital dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257850 +MONDO:0009768 oculodentodigital dysplasia, autosomal recessive skos:closeMatch OMIM:257850 oculodentodigital dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculodentoosseous dysplasia, autosomal recessive MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral syndrome +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopalatocerebral syndrome MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opc dwarfism MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch OMIM:257910 oculopalatocerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatocerebral dwarfism -MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850338 MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257910 +MONDO:0009769 oculo-palato-cerebral syndrome skos:closeMatch Orphanet:2714 Oculo-palato-cerebral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850338 MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopalatoskeletal syndrome MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym michels syndrome, formerly MONDO:0009770 3MC syndrome 1 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257920 MONDO:0009770 3MC syndrome 1 skos:closeMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis with type 51d anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850332 MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257960 -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850331 +MONDO:0009771 oculotrichodysplasia skos:closeMatch Orphanet:2718 Oculotrichodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850332 +MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch OMIM:257970 oculorenocerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257970 -MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch OMIM:257970 oculorenocerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orc syndrome +MONDO:0009772 oculorenocerebellar syndrome skos:closeMatch Orphanet:2715 Severe oculo-renal-cerebellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850331 +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 +MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257980 MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch OMIM:257980 odontoonychodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontoonychodermal dysplasia MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch OMIM:257980 odontoonychodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontoonychodermal dysplasia MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537742 -MONDO:0009773 odonto-onycho-dermal dysplasia skos:closeMatch Orphanet:2721 Odonto-onycho-dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796093 +MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex +MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-exstrophy-imperforate anus-spinal defects MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345217 -MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067424 MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oeis complex -MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-exstrophy-imperforate anus-spinal defects -MONDO:0009774 cloacal exstrophy skos:closeMatch OMIM:258040 oeis complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex +MONDO:0009774 cloacal exstrophy skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067424 MONDO:0009774 cloacal exstrophy skos:closeMatch NCIT:C99142 OEIS Complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oeis complex -MONDO:0009775 Oguchi disease-1 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258100 MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009775 Oguchi disease-1 skos:closeMatch OMIM:258100 oguchi disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009775 Oguchi disease-1 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258100 MONDO:0009776 spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258150 -MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligosynaptic infertility MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligochiasmatic infertility -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850320 -MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258200 +MONDO:0009776 spermatogenic failure 1 skos:closeMatch OMIM:258150 spermatogenic failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligosynaptic infertility MONDO:0009777 Oliver syndrome skos:closeMatch OMIM:258200 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym postaxial polydactyly and mental retardation -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258200 +MONDO:0009777 Oliver syndrome skos:closeMatch Orphanet:2920 Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850320 +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850318 +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micromelic dysplasia, congenital, with dislocation of radius MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia, generalized form +MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch OMIM:258315 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omodysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:2733 Omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch Orphanet:93329 Autosomal recessive omodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850318 -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate-omphalocele syndrome, lethal -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalocele-cleft palate syndrome, lethal -MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-cleft palate syndrome, lethal MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258320 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850317 MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch Orphanet:2736 Lethal omphalocele-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537747 +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate-omphalocele syndrome, lethal +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalocele-cleft palate syndrome, lethal +MONDO:0009780 lethal omphalocele-cleft palate syndrome skos:closeMatch OMIM:258320 omphalocele-cleft palate syndrome, lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omphalocele-cleft palate syndrome, lethal MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpeo MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive progressive external ophthalmoplegia MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258450 MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 skos:closeMatch OMIM:258450 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 +MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258480 MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537122 -MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258480 +MONDO:0009785 opsismodysplasia skos:closeMatch Orphanet:2746 Opsismodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432219 MONDO:0009786 optic atrophy 6 skos:closeMatch OMIM:258500 optic atrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, congenital or early infantile, autosomal recessive MONDO:0009786 optic atrophy 6 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258500 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3, autosomal recessive +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574084 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258501 +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iraqi-jewish 'optic atrophy plus' MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, infantile, with chorea and spastic paraplegia MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy plus syndrome -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574084 MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch Orphanet:67047 3-methylglutaconic aciduria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535311 -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa3, autosomal recessive -MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iraqi-jewish 'optic atrophy plus' +MONDO:0009787 3-methylglutaconic aciduria type 3 skos:closeMatch OMIM:258501 3-methylglutaconic aciduria, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy plus syndrome MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 -MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naion, susceptibility to MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic neuropathy, anterior ischemic, susceptibility to +MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to skos:closeMatch OMIM:258660 nonarteritic anterior ischemic optic neuropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naion, susceptibility to MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850268 MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258840 -MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral and digital anomalies with ichthyosis MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oral and digital anomalies with ichthyosis +MONDO:0009792 ichthyosis-oral and digital anomalies syndrome skos:closeMatch OMIM:258840 oral and digital anomalies with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral and digital anomalies with ichthyosis +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 -MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 3 semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406727 +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch OMIM:258850 orofaciodigital syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009793 orofaciodigital syndrome III skos:closeMatch Orphanet:2752 Orofaciodigital syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258850 +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd syndrome with tibial defects MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258860 -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofd syndrome with tibial defects -MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406727 MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch Orphanet:2753 Orofaciodigital syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 4 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009794 orofaciodigital syndrome IV skos:closeMatch OMIM:258860 orofaciodigital syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258865 MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796102 -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258865 -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 -MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine-delta-aminotransferase deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine keto acid aminotransferase deficiency +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch Orphanet:141007 Orofaciodigital syndrome type 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009795 orofaciodigital syndrome IX skos:closeMatch OMIM:258865 orofaciodigital syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with retinal abnormalities +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018425 MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258870 -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch Orphanet:414 Gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018425 -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gyrate atrophy of choroid and retina -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency -MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gyrate atrophy of choroid and retina MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oat deficiency MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperornithinemia with gyrate atrophy of choroid and retina +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine keto acid aminotransferase deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine-delta-aminotransferase deficiency +MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch OMIM:258870 gyrate atrophy of choroid and retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym okt deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oprt and odc deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umps deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria without megaloblastic anemia MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ump synthase deficiency +MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umps deficiency MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258900 -MONDO:0009797 orotic aciduria skos:closeMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria -MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052621 -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine monophosphate synthase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria type 1 semapv:RegularExpressionReplacement -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency -MONDO:0009797 orotic aciduria skos:closeMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orotic aciduria without megaloblastic anemia +MONDO:0009797 orotic aciduria skos:closeMatch Orphanet:30 Hereditary orotic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria +MONDO:0009797 orotic aciduria skos:closeMatch NCIT:C98944 Hereditary Orotic Aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary orotic aciduria +MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259050 MONDO:0009798 Primrose syndrome skos:closeMatch OMIM:259050 primrose syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ossified ear cartilages with mental deficiency, muscle wasting, and bony changes MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796121 -MONDO:0009798 Primrose syndrome skos:closeMatch Orphanet:3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259050 -MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara, adolescent MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrosis deformans tibiae, adolescent +MONDO:0009800 Blount disease, adolescent skos:closeMatch OMIM:259200 blount disease, adolescent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia vara, adolescent MONDO:0009800 Blount disease, adolescent skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259200 MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850186 MONDO:0009801 familial osteodysplasia, Anderson type skos:closeMatch Orphanet:2769 Familial osteodysplasia, Anderson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259250 +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850184 MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, microcephaly, and cataracts MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537558 MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259410 +MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta congenita, microcephaly, and cataracts MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch OMIM:259410 osteogenesis imperfecta congenita, microcephaly, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteogenesis imperfecta congenita, microcephaly, and cataracts -MONDO:0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome skos:closeMatch Orphanet:2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850184 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, progressively deforming, with normal sclerae -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi3 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268362 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536044 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268362 MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 -MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259420 -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, progressively deforming, with normal sclerae +MONDO:0009804 osteogenesis imperfecta type 3 skos:closeMatch OMIM:259420 osteogenesis imperfecta, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oi3 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 +MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850168 -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 -MONDO:0009806 Bruck syndrome 1 skos:closeMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009805 osteogenesis imperfecta type 9 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259440 MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteosarcoma +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009806 Bruck syndrome 1 skos:closeMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259450 +MONDO:0009806 Bruck syndrome 1 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850168 MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym osteosarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenic sarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteosarcoma +MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label osteosarcoma -MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteosarcoma MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 MONDO:0009807 osteosarcoma skos:closeMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012516 -MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma -MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenic sarcoma -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome +MONDO:0009807 osteosarcoma skos:exactMatch Orphanet:668 Osteosarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteosarcoma +MONDO:0009807 osteosarcoma skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenic sarcoma +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome, formerly MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg syndrome -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary multicentric MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mona -MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome, formerly MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nao syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-aqeel sewairi syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodulosis-arthropathy-osteolysis syndrome MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259600 -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis syndrome, recessive +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torg-winchester syndrome +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy skos:closeMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, hereditary multicentric MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteolysis syndrome, recessive -MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance +MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch Orphanet:2776 Autosomal recessive distal osteolysis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259610 +MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis syndrome, recessive MONDO:0009810 autosomal recessive distal osteolysis syndrome skos:closeMatch OMIM:259610 osteolysis syndrome, recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance -MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410422 +MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch Orphanet:324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259680 MONDO:0009813 chronic recurrent multifocal osteomyelitis skos:closeMatch OMIM:259680 chronic recurrent multifocal osteomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, chronic multifocal -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopenia and sparse hair +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopenia and sparse hair MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850140 MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259690 -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopenia and sparse hair -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch OMIM:259690 osteopenia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopenia and sparse hair -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259700 +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome skos:closeMatch Orphanet:2324 Osteopenia-intellectual disability-sparse hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537706 MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal recessive -MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, mild autosomal recessive form -MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albers-schonberg disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marble bones, autosomal recessive +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259700 +MONDO:0009815 autosomal recessive osteopetrosis 1 skos:closeMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259710 +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, mild autosomal recessive form +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor +MONDO:0009816 autosomal recessive osteopetrosis 2 skos:closeMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch OMIM:259720 osteopetrosis, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009817 autosomal recessive osteopetrosis 5 skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259720 MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536058 -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:exactMatch OMIM:267200 renal tubular acidosis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch OMIM:259730 osteopetrosis, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432252 +MONDO:0009818 autosomal recessive osteopetrosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259730 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432252 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536063 -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis pseudoglioma syndrome -MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, ocular form +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259770 MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ops +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch OMIM:259770 osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, ocular form +MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch NCIT:C130998 Osteoporosis Pseudoglioma Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis pseudoglioma syndrome MONDO:0009820 osteoporosis-pseudoglioma syndrome skos:closeMatch Orphanet:2788 Osteoporosis-pseudoglioma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052452 MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259775 MONDO:0009821 lethal osteosclerotic bone dysplasia skos:closeMatch Orphanet:1832 Lethal osteosclerotic bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850106 -MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259780 MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850105 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 +MONDO:0009822 otoonychoperoneal syndrome skos:closeMatch Orphanet:2793 Otoonychoperoneal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259780 +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym serine:pyruvate aminotransferase deficiency MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal alanine:glyoxylate aminotransferase deficiency -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic agt deficiency MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alanine-glyoxylate aminotransferase deficiency +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch OMIM:259900 hyperoxaluria, primary, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268164 -MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 +MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259900 MONDO:0009823 primary hyperoxaluria type 1 skos:closeMatch Orphanet:93598 Primary hyperoxaluria type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536414 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxylate reductase/hydroxypyruvate reductase deficiency MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyceric aciduria MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxalosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 +MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:93599 Primary hyperoxaluria type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268165 MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260000 -MONDO:0009824 primary hyperoxaluria type 2 skos:closeMatch OMIM:260000 hyperoxaluria, primary, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxylate reductase/hydroxypyruvate reductase deficiency +MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch OMIM:260005 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoprolinuria due to type 5-oxoprolinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260005 MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268525 MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 -MONDO:0009825 5-oxoprolinase deficiency skos:closeMatch Orphanet:33572 5-oxoprolinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535322 MONDO:0009826 PA polymorphism of alpha-2-globulin skos:closeMatch OMIM:260100 pa polymorphism of alpha-2-globulin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-2-globulin polymorphism pa +MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallido-pyramidal syndrome MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 15, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850100 MONDO:0009830 parkinsonian-pyramidal syndrome skos:closeMatch Orphanet:171695 Parkinsonian-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260300 MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic cancer MONDO:0009831 malignant pancreatic neoplasm skos:exactMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic cancer -MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850096 MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement +MONDO:0009832 pancreatic agenesis skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 semapv:RegularExpressionReplacement -MONDO:0009832 pancreatic agenesis skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850096 +MONDO:0009832 pancreatic agenesis skos:exactMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 semapv:RegularExpressionReplacement MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067940 MONDO:0009833 Shwachman-Diamond syndrome skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction -MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shwachman-diamond syndrome MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym shwachman-diamond syndrome +MONDO:0009833 Shwachman-Diamond syndrome skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shwachman-diamond syndrome MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260470 MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch OMIM:260470 subacute sclerosing panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panencephalitis, subacute sclerosing +MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dawson encephalitis MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038522 MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subacute sclerosing leukoencephalitis -MONDO:0009835 subacute sclerosing panencephalitis skos:closeMatch Orphanet:2806 Subacute sclerosing leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dawson encephalitis -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papilloma of choroid plexus +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008777 MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205770 -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus -MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C4715 Choroid Plexus Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma -MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C5800 Childhood Choroid Plexus Papilloma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood choroid plexus papilloma -MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 +MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label papilloma of choroid plexus MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma +MONDO:0009837 choroid plexus papilloma skos:closeMatch NCIT:C4715 Choroid Plexus Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choroid plexus carcinoma +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 +MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260500 MONDO:0009837 choroid plexus papilloma skos:closeMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroid plexus carcinoma MONDO:0009837 choroid plexus papilloma skos:closeMatch Orphanet:2807 Papilloma of choroid plexus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020288 -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260530 -MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parana hard skin syndrome MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850079 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parana hard skin syndrome +MONDO:0009838 Parana hard-skin syndrome skos:closeMatch Orphanet:2812 Parana hard skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260530 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson-dementia syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supranuclear palsy, progressive, type 1, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome, atypical +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson-dementia syndrome -MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch OMIM:260540 parkinson-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supranuclear palsy, progressive, type 1, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537240 +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome skos:closeMatch Orphanet:99750 Atypical progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260540 +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho-like syndrome +MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850055 +MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cerebellooptic atrophy +MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536317 MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:2836 PEHO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy -MONDO:0009841 PEHO syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260565 -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peho-like syndrome MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:260565 peho syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cerebellooptic atrophy -MONDO:0009841 PEHO syndrome skos:closeMatch OMIM:617507 peho-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peho-like syndrome -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 +MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch OMIM:260600 leukodystrophy, hypomyelinating, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 +MONDO:0009843 hypomyelinating leukodystrophy 3 skos:closeMatch Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260600 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260660 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 +MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cousin syndrome MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature MONDO:0009845 pelviscapular dysplasia skos:closeMatch OMIM:260660 cousin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cousin syndrome -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260660 MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850040 -MONDO:0009845 pelviscapular dysplasia skos:closeMatch Orphanet:93333 Pelviscapular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535550 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 -MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268162 MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064170 MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536652 MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulosuria +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268162 +MONDO:0009846 pentosuria skos:closeMatch Orphanet:2843 Pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260800 MONDO:0009846 pentosuria skos:closeMatch OMIM:260800 pentosuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym l-xylulose reductase deficiency MONDO:0009847 pericardial effusion, chronic skos:closeMatch OMIM:260900 pericardial effusion, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol pericarditis MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label perifolliculitis capitis abscedens et suffodiens, familial -MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260910 MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056961 MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch OMIM:260910 perifolliculitis capitis abscedens et suffodiens, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perifolliculitis capitis abscedens et suffodiens, familial -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch OMIM:260920 hyper-igd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperimmunoglobulinemia d and periodic fever syndrome -MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260920 +MONDO:0009848 dissecting cellulitis of the scalp skos:closeMatch Orphanet:345 Dissecting cellulitis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260910 MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260920 +MONDO:0009849 hyperimmunoglobulinemia D with periodic fever skos:closeMatch OMIM:260920 hyper-igd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperimmunoglobulinemia d and periodic fever syndrome MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1394891 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070440 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch Orphanet:332 Congenital intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261000 MONDO:0009852 hereditary intrinsic factor deficiency skos:closeMatch OMIM:261000 intrinsic factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pernicious anemia, congenital, due to defect of intrinsic factor MONDO:0009853 Imerslund-Grasbeck syndrome skos:closeMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enterocyte cobalamin malabsorption -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342870 -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal bifunctional enzyme deficiency +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbfe deficiency MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dbp deficiency MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch OMIM:261515 d-bifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pbfe deficiency +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261515 +MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342870 MONDO:0009855 d-bifunctional protein deficiency skos:closeMatch Orphanet:300 Bifunctional enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifunctional enzyme deficiency MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796012 -MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261540 MONDO:0009856 Peters plus syndrome skos:closeMatch OMIM:261540 peters-plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peters anomaly with short-limb dwarfism -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 +MONDO:0009856 Peters plus syndrome skos:closeMatch Orphanet:709 Peters plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261540 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia uteri inguinale MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261550 MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536665 MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent müllerian duct syndrome MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch Orphanet:2856 Persistent Müllerian duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849930 -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male internal -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent oviduct syndrome -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hernia uteri inguinale -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent mullerian duct syndrome, types type 1 and type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent oviduct syndrome +MONDO:0009857 persistent Mullerian duct syndrome skos:closeMatch OMIM:261550 persistent mullerian duct syndrome, types 1 and 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male internal +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849929 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261560 -MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppt syndrome +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch Orphanet:2871 Pfeiffer-Palm-Teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537889 MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, unique facies, enamel hypoplasia, progressive joint stiffness, and high-pitched voice -MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261575 +MONDO:0009858 Pfeiffer-Palm-Teller syndrome skos:closeMatch OMIM:261560 pfeiffer-palm-teller syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppt syndrome MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849928 -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa, non-pku mild -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica +MONDO:0009859 PHAVER syndrome skos:closeMatch Orphanet:2876 PHAVER syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261575 MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031485 +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phenylketonuria, maternal +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligophrenia phenylpyruvica +MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpa, non-pku mild +MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010661 -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:2209 Maternal phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261600 -MONDO:0009861 phenylketonuria skos:closeMatch OMIM:261600 phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phenylketonuria, maternal -MONDO:0009861 phenylketonuria skos:closeMatch Orphanet:716 Phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034872 -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, c +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym quinoid dihydropteridine reductase deficiency +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, c +MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym qdpr deficiency MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, c -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch Orphanet:226 Dihydropteridine reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 -MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch OMIM:261630 hyperphenylalaninemia, bh4-deficient, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhpr deficiency -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, a +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, a +MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, due to partial pts deficiency MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch OMIM:261640 hyperphenylalaninemia, bh4-deficient, a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 -MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535325 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261640 MONDO:0009863 BH4-deficient hyperphenylalaninemia A skos:closeMatch Orphanet:13 6-pyruvoyl-tetrahydropterin synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878676 -MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261650 MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck2 deficiency MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch OMIM:261650 phosphoenolpyruvate carboxykinase deficiency, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pck2 deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261650 MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate mutase, muscle, deficiency of -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgamm deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NCIT:C131647 Phosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate mutase deficiency -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch Orphanet:97234 Glycogen storage disease due to phosphoglycerate mutase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261670 +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch NCIT:C131647 Phosphoglycerate Mutase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate mutase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgamm deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy due to phosphoglycerate mutase deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch NCIT:C99015 Phosphoenolpyruvate Carboxykinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261680 -MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency skos:closeMatch OMIM:261670 glycogen storage disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate mutase, muscle, deficiency of MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pck1 deficiency, cytosolic MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pepck deficiency, cytosolic -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261680 +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch NCIT:C99015 Phosphoenolpyruvate Carboxykinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoenolpyruvate carboxykinase deficiency +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal congenital hypertrophic cardiomyopathy due to glycogen storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261740 -MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849813 +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009867 lethal congenital glycogen storage disease of heart skos:closeMatch OMIM:261740 glycogen storage disease of heart, lethal congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder of heart, lethal congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0543514 MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphorylase kinase deficiency of liver and muscle, autosomal recessive -MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver and muscle phosphorylase kinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261750 +MONDO:0009868 glycogen storage disease IXb skos:closeMatch Orphanet:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to liver and muscle phosphorylase kinase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009868 glycogen storage disease IXb skos:closeMatch OMIM:261750 glycogen storage disease ixb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenosis of liver and muscle, autosomal recessive -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossoptosis, micrognathia, and cleft palate +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence -MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch NCIT:C85010 Pierre Robin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch OMIM:261800 pierre robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glossoptosis, micrognathia, and cleft palate MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated pierre robin syndrome MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch Orphanet:718 Isolated Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261800 -MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pili torti, early-onset -MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti, early-onset +MONDO:0009869 isolated Pierre-Robin syndrome skos:closeMatch NCIT:C85010 Pierre Robin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin syndrome MONDO:0009870 pili torti skos:closeMatch Orphanet:2889 Pili torti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261900 -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 +MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti, early-onset +MONDO:0009870 pili torti skos:closeMatch OMIM:261900 pili torti, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pili torti, early-onset MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849811 -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 -MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and developmental delay MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261990 -MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label björnstad syndrome +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch OMIM:261990 abnormal hair, joint laxity, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and developmental delay +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 +MONDO:0009871 pili torti-developmental delay-neurological abnormalities syndrome skos:closeMatch Orphanet:2891 Pili torti-developmental delay-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537398 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266006 +MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label björnstad syndrome MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262000 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 MONDO:0009872 Bjornstad syndrome skos:closeMatch Orphanet:123 Björnstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537633 MONDO:0009872 Bjornstad syndrome skos:closeMatch OMIM:262000 bjornstad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili torti and nerve deafness -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pilodental dysplasia with refractive errors -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849805 -MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262020 MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia with hyperopia +MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262020 +MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch Orphanet:2892 Pilodental dysplasia-refractive errors syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849805 +MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pilodental dysplasia with refractive errors MONDO:0009873 pilodental dysplasia-refractive errors syndrome skos:closeMatch OMIM:262020 pilodental dysplasia with refractive errors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilodental dysplasia with refractive errors -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262190 -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mendenhall syndrome -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities -MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056731 +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262190 MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch Orphanet:769 Rabson-Mendenhall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271695 -MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262300 -MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total colorblindness with myopia +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mendenhall syndrome +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities +MONDO:0009874 Rabson-Mendenhall syndrome skos:closeMatch OMIM:262190 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromacy type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achm1, formerly -MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia with myopia -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal recessive -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illig-type growth hormone deficiency -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated gh deficiency +MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achm1, formerly +MONDO:0009875 achromatopsia 3 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262300 +MONDO:0009875 achromatopsia 3 skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym total colorblindness with myopia MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired isolated growth hormone deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated gh deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital ighd +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym illig-type growth hormone deficiency +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated, autosomal recessive +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262400 -MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital isolated growth hormone deficiency -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262500 -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 -MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 +MONDO:0009876 isolated growth hormone deficiency type IA skos:closeMatch OMIM:262400 isolated growth hormone deficiency, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009877 Laron syndrome skos:closeMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity syndrome MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome MONDO:0009877 Laron syndrome skos:closeMatch NCIT:C129867 Growth Hormone Insensitivity Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity syndrome -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hanhart dwarfism -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ateliotic dwarfism with hypogonadism +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262500 +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 +MONDO:0009877 Laron syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046150 MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panhypopituitarism +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ateliotic dwarfism with hypogonadism +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hanhart dwarfism +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 -MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch NCIT:C110940 Panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panhypopituitarism MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262600 -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849779 -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kowarski syndrome -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome -MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin +MONDO:0009878 pituitary hormone deficiency, combined, 2 skos:closeMatch NCIT:C110940 Panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panhypopituitarism MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biodefective growth hormone +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849779 +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kowarski syndrome MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch Orphanet:629 Short stature due to growth hormone qualitative anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262650 -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262700 -MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, pituitary and cerebellar defects, and small sella turcica +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin +MONDO:0009879 short stature due to growth hormone qualitative anomaly skos:closeMatch OMIM:262650 kowarski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kowarski syndrome MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, with or without cerebellar defects +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, pituitary and cerebellar defects, and small sella turcica MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch OMIM:262700 pituitary hormone deficiency, combined, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary hormone deficiency, combined, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome skos:closeMatch Orphanet:85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262700 MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262850 MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch Orphanet:79 Congenital alpha2-antiplasmin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital alpha2-antiplasmin deficiency MONDO:0009883 alpha-2-plasmin inhibitor deficiency skos:closeMatch OMIM:262850 alpha-2-plasmin inhibitor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antiplasmin deficiency MONDO:0009884 platelet prostacyclin receptor defect skos:closeMatch OMIM:262875 platelet prostacyclin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vienna-hietzing defect -MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding abnormality due to deficiency of platelet binding of factor type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin conversion defect, familial -MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin consumption inhibitor, familial +MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009885 Scott syndrome skos:closeMatch OMIM:262890 scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding abnormality due to deficiency of platelet binding of factor type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796149 MONDO:0009885 Scott syndrome skos:closeMatch Orphanet:806 Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:262890 -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ild, desquamative +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, desquamative semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial pneumonitis, desquamative, familial MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonitis, desquamative interstitial, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonia, desquamative interstitial, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263000 MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238378 -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, desquamative semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch Orphanet:98852 Desquamative interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263000 +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pneumonia, desquamative interstitial, familial MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial pneumonitis, desquamative, familial -MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial pneumonitis, desquamative, familial -MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036047 -MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009887 desquamative interstitial pneumonia skos:closeMatch OMIM:263000 interstitial pneumonitis, desquamative, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ild, desquamative MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263210 +MONDO:0009889 autosomal recessive polycystic kidney disease skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036047 +MONDO:0009889 autosomal recessive polycystic kidney disease skos:exactMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch OMIM:263210 gillessen-kaesbach-nishimura syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032463 +MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263210 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036057 -MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263300 -MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263400 +MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011087 +MONDO:0009891 acquired polycythemia vera skos:closeMatch Orphanet:729 Polycythemia vera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032463 MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chuvash erythrocytosis -MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009892 Chuvash polycythemia skos:closeMatch Orphanet:238557 Chuvash erythrocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263400 MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycythemia, vhl-dependent +MONDO:0009892 Chuvash polycythemia skos:closeMatch OMIM:263400 erythrocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009893 polydactyly, postaxial, type A5 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263450 MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263520 MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263540 MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch Orphanet:2916 Postaxial polydactyly-dental and vertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849732 MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, postaxial, with dental and vertebral anomalies MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome skos:closeMatch OMIM:263540 polydactyly, postaxial, with dental and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polydactyly, postaxial, with dental and vertebral anomalies -MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body neuropathy, adult form MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body neuropathy, adult form +MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body neuropathy, adult form MONDO:0009897 adult polyglucosan body disease skos:closeMatch OMIM:263570 polyglucosan body neuropathy, adult form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body disorder, adult form semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:206583 Adult polyglucosan body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 MONDO:0009897 adult polyglucosan body disease skos:closeMatch Orphanet:367 Glycogen storage disease due to glycogen branching enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263570 @@ -12588,317 +12594,317 @@ MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orpha MONDO:0009900 polysyndactyly-cardiac malformation syndrome skos:closeMatch Orphanet:2934 Polysyndactyly-cardiac malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849719 MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263650 MONDO:0009901 Bartsocas-Papas syndrome 1 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849718 -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263700 -MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital erythropoietic porphyria -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gunther disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uroporphyrinogen type 3 synthase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, congenital erythropoietic -MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uros deficiency MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, congenital erythropoietic -MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263750 +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep +MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital erythropoietic porphyria +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uros deficiency +MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263700 +MONDO:0009902 cutaneous porphyria skos:closeMatch Orphanet:79277 Congenital erythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cep +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, congenital erythropoietic +MONDO:0009902 cutaneous porphyria skos:closeMatch OMIM:263700 porphyria, congenital erythropoietic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gunther disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265257 +MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch Orphanet:246 Postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263750 MONDO:0009903 postaxial acrofacial dysostosis skos:closeMatch OMIM:263750 postaxial acrofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genee-wiedemann syndrome -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263800 -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268450 -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 MONDO:0009904 Gitelman syndrome skos:closeMatch OMIM:263800 gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym potassium and magnesium depletion -MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062906 -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi habitus, osteopenia, and camptodactyly -MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi habitus, osteopenia, and camptodactyly +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263800 +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053579 +MONDO:0009904 Gitelman syndrome skos:closeMatch Orphanet:358 Gitelman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268450 MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264010 MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch Orphanet:3409 Urban-Rogers-Meyer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796189 +MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi habitus, osteopenia, and camptodactyly +MONDO:0009905 urban-Rogers-Meyer syndrome skos:closeMatch OMIM:264010 prader-willi habitus, osteopenia, and camptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi habitus, osteopenia, and camptodactyly MONDO:0009906 prenatal bowing skos:closeMatch Orphanet:2292 Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264050 MONDO:0009907 Prepapillary vascular loops skos:closeMatch OMIM:264060 prepapillary vascular loops semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preretinal vascular loops +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, d MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterin-4 alpha-carbinolamine dehydratase deficiency MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, d MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 -MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, d MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency +MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch OMIM:264070 hyperphenylalaninemia, bh4-deficient, d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, d MONDO:0009909 progesterone resistance skos:closeMatch OMIM:264080 progesterone resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocorpus luteum insufficiency -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, neonatal MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 -MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406586 +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch Orphanet:3455 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536423 +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch OMIM:264090 wiedemann-rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, neonatal MONDO:0009912 prolactin deficiency with obesity and enlarged testes skos:closeMatch OMIM:264120 prolactin deficiency with obesity and enlarged testes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prl deficiency with obesity and enlarged testes -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432206 -MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264180 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535826 -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudohermaphroditism, female, with skeletal anomalies -MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, with skeletal anomalies +MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264180 +MONDO:0009914 pseudodiastrophic dysplasia skos:closeMatch Orphanet:85174 Pseudodiastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432206 MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849696 MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch Orphanet:2975 46,XX disorder of sex development-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264270 +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudohermaphroditism, female, with skeletal anomalies +MONDO:0009915 46,XX disorder of sex development-skeletal anomalies syndrome skos:closeMatch OMIM:264270 pseudohermaphroditism, female, with skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, with skeletal anomalies MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ketosteroid reductase deficiency of testis MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic ovary syndrome due to type 17-ketosteroid reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, male, with gynecomastia -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic ovary syndrome due to type 17-ketosteroid reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ketosteroid reductase deficiency of testis +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch OMIM:264300 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch Orphanet:752 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pseudohypoaldosteronism type 1 -MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pha1 MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch OMIM:264350 pseudohypoaldosteronism, iia ib1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pha i, autosomal recessive MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pha1 +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pseudohypoaldosteronism type 1 +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:171876 Generalized pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form skos:closeMatch Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264420 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849678 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoneonatal adrenoleukodystrophy +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym straight-chain acyl-coa oxidase deficiency MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536662 -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym straight-chain acyl-coa oxidase deficiency -MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch OMIM:264470 peroxisomal acyl-coa oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoneonatal adrenoleukodystrophy +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264470 +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency skos:closeMatch Orphanet:2971 Peroxisomal acyl-CoA oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849678 MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849661 MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoo syndrome MONDO:0009920 Acrootoocular syndrome skos:closeMatch OMIM:264475 pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies MONDO:0009920 Acrootoocular syndrome skos:closeMatch Orphanet:2980 Acrootoocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264475 -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly-polydactyly syndrome MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly-polydactyly syndrome MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch OMIM:264480 pseudotrisomy 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849649 MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264480 +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch Orphanet:2166 Holoprosencephaly-postaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849649 MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome skos:closeMatch NCIT:C125418 Pseudotrisomy 13 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudotrisomy type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micropenis MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch OMIM:264600 pseudovaginal perineoscrotal hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism due to type 5-alpha-reductase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000029 MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264600 +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency skos:closeMatch Orphanet:753 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000029 MONDO:0009924 vitamin D-dependent rickets, type 1 skos:exactMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264800 +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033847 -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037150 MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011561 -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum -MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe, modifier of severity of +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum, modifier of severity of -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, escobar variant -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, escobar variant -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe, modifier of severity of +MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum skos:closeMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium universale MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, escobar variant +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, escobar variant MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:294060 Multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265000 -MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis of eyelids with diastasis recti and hip dysplasia +MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli syndrome +MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa syndrome MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnevale syndrome, formerly +MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis of eyelids with diastasis recti and hip dysplasia MONDO:0009927 3MC syndrome 2 skos:closeMatch Orphanet:293843 3MC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265050 MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculo-skeletal-abdominal syndrome -MONDO:0009927 3MC syndrome 2 skos:closeMatch OMIM:265050 3mc syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osa syndrome -MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155912 MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265100 -MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265120 +MONDO:0009928 pulmonary alveolar microlithiasis skos:closeMatch Orphanet:60025 Pulmonary alveolar microlithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037315 MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch OMIM:265120 surfactant metabolism dysfunction, pulmonary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nonspecific, due to surfactant protein b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265150 -MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344975 +MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency skos:closeMatch Orphanet:217563 Neonatal acute respiratory distress due to SP-B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265120 MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary atresia with intact ventricular septum MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch OMIM:265150 pulmonary atresia with intact ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary atresia with intact ventricular septum -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849554 -MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiomatosis, pulmonary +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344975 +MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome skos:closeMatch Orphanet:1208 Pulmonary atresia-intact ventricular septum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265150 MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary cystic lymphangiectasis MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiectasia, pulmonary, congenital +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphangiomatosis, pulmonary MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch OMIM:265300 lymphangiectasia, pulmonary, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangiectasia, pulmonary, congenital -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265380 -MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent fetal circulation +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265300 +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849554 +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 +MONDO:0009933 congenital pulmonary lymphangiectasia skos:closeMatch Orphanet:2414 Congenital pulmonary lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537727 MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch NCIT:C85006 Persistent Fetal Circulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent fetal circulation +MONDO:0009934 alveolar capillary dysplasia with misalignment of pulmonary veins skos:closeMatch Orphanet:210122 Congenital alveolar capillary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265380 MONDO:0009935 pulmonary hypertension, primary, autosomal recessive skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265400 MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis -MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia, primary MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypoplasia, primary +MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch OMIM:265430 pulmonary hypoplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia, primary MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary pulmonary hypoplasia MONDO:0009936 familial primary pulmonary hypoplasia skos:closeMatch Orphanet:2257 Primary pulmonary hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265430 -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037458 MONDO:0009937 pulmonary venoocclusive disease skos:exactMatch Orphanet:199241 Pulmonary capillary hemangiomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary capillary hemangiomatosis -MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034091 +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037458 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 +MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034091 MONDO:0009937 pulmonary venoocclusive disease skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011668 MONDO:0009938 pulmonic stenosis skos:exactMatch NCIT:C50715 Pulmonary Stenosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary stenosis MONDO:0009938 pulmonic stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265500 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 MONDO:0009940 pycnodysostosis skos:closeMatch OMIM:265800 pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pycd +MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265800 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058631 MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238402 -MONDO:0009940 pycnodysostosis skos:closeMatch Orphanet:763 Pycnodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265800 MONDO:0009941 Pygmy skos:closeMatch OMIM:265850 pygmy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pygmy, african MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536251 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265880 MONDO:0009942 pyknoachondrogenesis skos:closeMatch Orphanet:3003 Pyknoachondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849523 -MONDO:0009943 Pyle disease skos:closeMatch OMIM:265900 pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyl -MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondrodysplasia calcificans metaphysealis -MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia calcificans metaphysealis +MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 +MONDO:0009943 Pyle disease skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphysealis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chondrodysplasia calcificans metaphysealis MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265900 MONDO:0009943 Pyle disease skos:closeMatch Orphanet:3005 Pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536252 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849508 -MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyridoxine-dependent epilepsy +MONDO:0009943 Pyle disease skos:closeMatch OMIM:265900 pyle disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyl MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent -MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849508 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536254 +MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pyridoxine-dependent epilepsy MONDO:0009945 pyridoxine-dependent epilepsy skos:exactMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849507 -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to umph1 deficiency +MONDO:0009945 pyridoxine-dependent epilepsy skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266120 +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch Orphanet:35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849507 +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine type 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to umph1 deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to p5n deficiency -MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym umph1 deficiency MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency skos:closeMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidine type 5-prime nucleotidase deficiency, hemolytic anemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-oxoprolinuria MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyroglutamic aciduria -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency -MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione synthetase deficiency MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch NCIT:C128193 Glutathione Synthetase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione synthetase deficiency +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 5-oxoprolinuria MONDO:0009948 pyropoikilocytosis, hereditary skos:closeMatch NCIT:C98943 Hereditary Pyropoikilocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary pyropoikilocytosis -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931141 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 2 semapv:RegularExpressionReplacement +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pc deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034341 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931141 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353320 Pyruvate carboxylase deficiency, benign type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch OMIM:266150 pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate carboxylase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch NCIT:C85040 Pyruvate Carboxylase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency +MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353314 Pyruvate carboxylase deficiency, severe neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015324 -MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:3008 Pyruvate carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034341 MONDO:0009949 pyruvate carboxylase deficiency disease skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266150 +MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NCIT:C99037 Pyruvate Kinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate kinase deficiency MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340968 MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch Orphanet:766 Hemolytic anemia due to red cell pyruvate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266200 -MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch NCIT:C99037 Pyruvate Kinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate kinase deficiency MONDO:0009950 pyruvate kinase deficiency of red cells skos:closeMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pk deficiency MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis, unilateral, with developmental retardation and hypotonia -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266255 MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis, unilateral, with developmental retardation and hypotonia -MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398739 +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome skos:closeMatch Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266255 MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 +MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398739 MONDO:0009953 leukocyte adhesion deficiency type II skos:closeMatch Orphanet:99843 Leukocyte adhesion deficiency type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266265 +MONDO:0009954 Ramon syndrome skos:closeMatch OMIM:266270 ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth +MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 +MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796133 MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535285 -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796133 -MONDO:0009954 Ramon syndrome skos:closeMatch Orphanet:3019 Ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266270 -MONDO:0009954 Ramon syndrome skos:closeMatch OMIM:266270 ramon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth +MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266280 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535288 -MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266280 MONDO:0009955 rapadilino syndrome skos:closeMatch Orphanet:3021 RAPADILINO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849453 MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 +MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266500 MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038275 MONDO:0009958 adult Refsum disease skos:exactMatch NCIT:C85043 Refsum Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009958 adult Refsum disease skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012035 -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch NCIT:C84789 Infantile Refsum Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile refsum disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch NCIT:C155753 Peroxisome Biogenesis Disorder 3B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peroxisome biogenesis disorder type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder-associated growth failure, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulcerative colitis -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2965 Crohn Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym regional enteritis -MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulcerative colitis MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder (crohn disorder) type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch OMIM:266600 inflammatory bowel disease (crohn disease) 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2965 Crohn Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crohn disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009960 inflammatory bowel disease 1 skos:closeMatch NCIT:C2952 Ulcerative Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulcerative colitis MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-retinal syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loken-senior syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile nephronophthisis with leber amaurosis MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia and retinal aplasia -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome -MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile nephronophthisis with leber amaurosis +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loken-senior syndrome +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266900 +MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome MONDO:0009962 Senior-Loken syndrome 1 skos:closeMatch NCIT:C168588 Senior-Loken Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome -MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266910 MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch OMIM:266910 renal dysplasia-limb defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rl syndrome MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849438 +MONDO:0009963 Ulbright-Hodes syndrome skos:closeMatch Orphanet:3404 Ulbright-Hodes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266910 MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266920 MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia -MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor -MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hamartomas, nephroblastomatosis, and fetal gigantism MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796113 MONDO:0009965 Perlman syndrome skos:closeMatch Orphanet:2849 Perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267000 +MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hamartomas, nephroblastomatosis, and fetal gigantism +MONDO:0009965 Perlman syndrome skos:closeMatch OMIM:267000 perlman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673885 MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 7 semapv:RegularExpressionReplacement MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:3032 NPHP3-related Meckel-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch OMIM:267010 meckel syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-hepatic-pancreatic dysplasia with dandy-walker cyst MONDO:0009966 NPHP3-related Meckel-like syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267010 -MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement MONDO:0009967 renal tubular acidosis 3 skos:closeMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267200 MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta with progressive nerve deafness -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis with progressive nerve deafness +MONDO:0009967 renal tubular acidosis 3 skos:exactMatch Orphanet:2785 Osteopetrosis with renal tubular acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 3 semapv:RegularExpressionReplacement +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, autosomal recessive, with progressive nerve deafness +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis with progressive nerve deafness +MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta with progressive nerve deafness MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 -MONDO:0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267300 -MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal, genital, and middle ear anomalies MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal, genital, and middle ear anomalies -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 +MONDO:0009969 renal-genital-middle ear anomalies skos:closeMatch OMIM:267400 renal, genital, and middle ear anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal, genital, and middle ear anomalies MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome -MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis with choanal atresia and athelia MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:97369 Renal tubular dysgenesis of genetic origin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch Orphanet:3033 Renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267430 MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primitive renal tubule syndrome MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis +MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular dysgenesis with choanal atresia and athelia MONDO:0009970 renal tubular dysgenesis of genetic origin skos:closeMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubular dysgenesis -MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267450 MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic hypoplasia, generalized +MONDO:0009971 respiratory distress syndrome in premature infants skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaline membrane disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular dysgenesia MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital aleukia +MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hematopoietic hypoplasia, generalized MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aleukocytosis -MONDO:0009973 reticular dysgenesis skos:closeMatch OMIM:267500 reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular dysgenesia MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272167 MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538361 MONDO:0009973 reticular dysgenesis skos:closeMatch Orphanet:33355 Reticular dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267500 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic reticulosis, familial -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulosis, familial histiocytic MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh1 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh1 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulosis, familial histiocytic MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrophagocytic lymphohistiocytosis, familial +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic reticulosis, familial +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:exactMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hlh -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267700 MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 -MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272199 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054739 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267730 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitating dendritic cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038804 @@ -12907,30 +12913,30 @@ MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:86900 Interdigitat MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0009975 reticulum cell sarcoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267760 -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931831 -MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, reticular pigmentary, of posterior pole -MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867332 +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch OMIM:267760 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931831 +MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome skos:closeMatch Orphanet:1574 Retinal degeneration-nanophthalmos-glaucoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267760 MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267800 +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867332 MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179840 +MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, reticular pigmentary, of posterior pole MONDO:0009979 reticular dystrophy of the retinal pigment epithelium skos:closeMatch OMIM:267800 retinal dystrophy, reticular pigmentary, of posterior pole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, reticular pigmentary, of posterior pole -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, deafness, mental retardation, and hypogonadism MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch OMIM:268020 retinitis pigmentosa, deafness, mental retardation, and hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, deafness, mental retardation, and hypogonadism +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268020 +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome skos:closeMatch Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849401 +MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, late-adult onset MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa, late-adult onset MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, senile' semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch OMIM:268025 retinitis pigmentosa, late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, late-adult onset MONDO:0009984 late-adult onset retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268025 MONDO:0009985 retinohepatoendocrinologic syndrome skos:closeMatch OMIM:268040 retinohepatoendocrinologic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhe syndrome MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:closeMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirhosseini-holmes-walton syndrome MONDO:0009986 retinopathy, pigmentary, and intellectual disability skos:closeMatch OMIM:268050 mirhosseini-holmes-walton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirhosseini-holmes-walton syndrome -MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, pericentral MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinopathy, pericentral pigmentary, autosomal recessive +MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, pericentral MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch OMIM:268060 retinopathy, pericentral pigmentary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, pericentral pigmentary, autosomal recessive MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268060 MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327916 @@ -12938,174 +12944,174 @@ MONDO:0009990 Revesz syndrome skos:closeMatch Orphanet:3088 Revesz syndrome sema MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoglobinuria, familial paroxysmal paralytic MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch OMIM:268200 myoglobinuria, acute recurrent, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyolysis, acute recurrent MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268200 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma chromosomal region MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206656 MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:99757 Embryonal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065868 -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma chromosomal region +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268210 +MONDO:0009993 embryonal rhabdomyosarcoma skos:closeMatch OMIM:268210 rhabdomyosarcoma, embryonal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, embryonal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, alveolar -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206655 -MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065867 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018232 +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206655 +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdomyosarcoma, alveolar +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:99756 Alveolar rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065867 +MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch OMIM:268220 rhabdomyosarcoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0009994 alveolar rhabdomyosarcoma skos:closeMatch Orphanet:780 Rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268220 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537611 -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic syndrome MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic syndrome +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic syndrome MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch OMIM:268250 rhizomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic dysplasia, familial -MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849382 MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268250 -MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome -MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome -MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long bone deficiencies associated with cleft lip-palate +MONDO:0009996 rhizomelic syndrome, Urbach type skos:closeMatch Orphanet:3098 Rhizomelic syndrome, Urbach type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849382 MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc phocomelia MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 -MONDO:0009997 Roberts syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts syndrome MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535687 -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849348 -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with cleft mandible and limb anomalies -MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 +MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long bone deficiencies associated with cleft lip-palate +MONDO:0009997 Roberts syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome +MONDO:0009997 Roberts syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts syndrome +MONDO:0009997 Roberts syndrome skos:closeMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sc pseudothalidomide syndrome MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa-pereira syndrome MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with cleft mandible and limb anomalies +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch OMIM:268305 robin sequence with cleft mandible and limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with cleft mandible and limb anomalies MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268305 -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849334 +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849348 +MONDO:0009998 Richieri Costa-Pereira syndrome skos:closeMatch Orphanet:3102 Richieri Costa-Pereira syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535677 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535863 +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849334 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome +MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome, formerly MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral segmentation defect with mesomelia, formerly MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals -MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym covesdem syndrome, formerly MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive, with brachy-syn-polydactyly MONDO:0009999 autosomal recessive Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268310 -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rodrigues blindness -MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849332 MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rodrigues blindness MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268320 -MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032339 +MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch Orphanet:1806 Ectodermal dysplasia-blindness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849332 +MONDO:0010001 ectodermal dysplasia-blindness syndrome skos:closeMatch OMIM:268320 rodrigues blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rodrigues blindness +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rothmund-thomson syndrome +MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rothmund-thomson syndrome MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011038 +MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032339 MONDO:0010002 Rothmund-Thomson syndrome skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rothmund-thomson syndrome -MONDO:0010002 Rothmund-Thomson syndrome skos:exactMatch OMIM:268400 rothmund-thomson syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rothmund-thomson syndrome MONDO:0010003 Rowley-Rosenberg syndrome skos:closeMatch OMIM:268500 rowley-rosenberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, pulmonary hypertension, and amino aciduria MONDO:0010004 EEC syndrome skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406704 MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rudiger syndrome MONDO:0010004 EEC syndrome skos:closeMatch OMIM:268650 rudiger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rudiger syndrome -MONDO:0010005 saccharopinuria skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268556 -MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268700 +MONDO:0010005 saccharopinuria skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537218 -MONDO:0010005 saccharopinuria skos:closeMatch OMIM:268700 saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 -MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency +MONDO:0010005 saccharopinuria skos:closeMatch OMIM:238700 hyperlysinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-aminoadipic semialdehyde synthase deficiency +MONDO:0010005 saccharopinuria skos:closeMatch Orphanet:3124 Saccharopinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268700 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309169 Sandhoff disease, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309162 Sandhoff disease, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:309155 Sandhoff disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012497 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036161 +MONDO:0010006 Sandhoff disease skos:closeMatch Orphanet:796 Sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268800 MONDO:0010006 Sandhoff disease skos:closeMatch OMIM:268800 sandhoff disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidases a and b deficiency -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268850 -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richieri-costa/guion-almeida syndrome -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, mental retardation, eye anomalies, and cleft lip/palate MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym richieri-costa/guion-almeida syndrome +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, mental retardation, eye anomalies, and cleft lip/palate MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sao paulo mca/mr syndrome +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch OMIM:268850 richieri-costa/guion-almeida syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label richieri-costa/guion-almeida syndrome +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome skos:closeMatch Orphanet:2511 Microbrachycephaly-ptosis-cleft lip syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268850 +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 +MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency +MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency +MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059299 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268563 -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537236 MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268900 -MONDO:0010008 sarcosinemia skos:closeMatch Orphanet:3129 Sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersarcosinemia -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sardh deficiency -MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcosine dehydrogenase complex deficiency MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sard deficiency +MONDO:0010008 sarcosinemia skos:closeMatch OMIM:268900 sarcosinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersarcosinemia MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schinzel-giedion midface retraction syndrome -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel-giedion midface retraction syndrome MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:269150 schinzel-giedion midface retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:2462 Shprintzen-Goldberg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs +MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063540 MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269150 -MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgs MONDO:0010010 Schinzel-Giedion syndrome skos:closeMatch Orphanet:798 Schinzel-Giedion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265227 MONDO:0010011 schizencephaly skos:closeMatch Orphanet:485275 Acquired schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 MONDO:0010011 schizencephaly skos:closeMatch Orphanet:481986 Familial schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 MONDO:0010011 schizencephaly skos:closeMatch Orphanet:799 Schizencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269160 +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269200 MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aps type 2 semapv:RegularExpressionReplacement -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch Orphanet:3143 Autoimmune polyendocrinopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269200 MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, addison disorder, myxedema semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 -MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 +MONDO:0010012 autoimmune polyendocrinopathy type 2 skos:closeMatch OMIM:269200 autoimmune polyendocrine syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pga type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010013 schneckenbecken dysplasia skos:closeMatch OMIM:269250 schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal neonatal, with snail-like pelvis MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432194 +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269250 +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 +MONDO:0010013 schneckenbecken dysplasia skos:closeMatch Orphanet:3144 Schneckenbecken dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536637 MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniometadiaphyseal dysplasia -MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniometadiaphyseal dysplasia MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch Orphanet:85184 Craniometadiaphyseal dysplasia, wormian bone type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269300 -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract microcornea with corneal opacity -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 -MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerocornea with other ocular anomalies +MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type skos:closeMatch OMIM:269300 craniometadiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniometadiaphyseal dysplasia MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerocornea with other ocular anomalies +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269400 +MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch Orphanet:289499 Congenital cataract microcornea with corneal opacity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataract microcornea with corneal opacity MONDO:0010015 anterior segment dysgenesis 7 skos:closeMatch OMIM:269400 anterior segment dysgenesis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacification with other ocular anomalies -MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly MONDO:0010016 sclerosteosis 1 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269500 +MONDO:0010016 sclerosteosis 1 skos:closeMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036489 +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269600 +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocytosis +MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, sea-blue MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocyte disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis, sea-blue MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch OMIM:269600 sea-blue histiocyte disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sea-blue histiocytosis -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sea-blue histiocytosis -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036489 -MONDO:0010017 sea-blue histiocyte syndrome skos:closeMatch Orphanet:158029 Sea-blue histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269600 MONDO:0010019 secretory component deficiency skos:closeMatch OMIM:269650 secretory component deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga deficiency, secretory MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seip syndrome MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes, congenital -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, total, and acromegaloid gigantism -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berardinelli syndrome MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, bscl2-related -MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269700 +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym berardinelli syndrome +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch OMIM:269700 lipodystrophy, congenital generalized, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, total, and acromegaloid gigantism MONDO:0010020 congenital generalized lipodystrophy type 2 skos:exactMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym berardinelli-seip syndrome -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign familial neonatal, autosomal recessive -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, autosomal recessive -MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269720 +MONDO:0010020 congenital generalized lipodystrophy type 2 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269700 MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bfns, autosomal recessive -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NCIT:C176821 Immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269720 +MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, autosomal recessive +MONDO:0010021 seizures, benign familial neonatal, autosomal recessive skos:closeMatch OMIM:269720 seizures, benign familial neonatal, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, benign familial neonatal, autosomal recessive MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective t-cell defect +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch OMIM:269840 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch NCIT:C176821 Immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432198 MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short rib-polydactyly syndrome, beemer-langer type MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269860 -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269880 +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch Orphanet:93268 Short rib-polydactyly syndrome, Beemer-Langer type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432198 +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym srps type 4 semapv:RegularExpressionReplacement +MONDO:0010024 Beemer-Langer syndrome skos:closeMatch OMIM:269860 short-rib thoracic dysplasia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878684 -MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, with rieger anomaly and short stature +MONDO:0010026 SHORT syndrome skos:closeMatch OMIM:269880 short syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay +MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269880 MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 -MONDO:0010026 SHORT syndrome skos:closeMatch Orphanet:3163 SHORT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537327 -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylneuraminic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nana storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sialuria, infantile form -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile sialic acid storage disorder semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylneuraminic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch OMIM:269920 infantile sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile sialic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269920 MONDO:0010027 free sialic acid storage disease, infantile form skos:closeMatch Orphanet:309324 Free sialic acid storage disease, infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067532 @@ -13117,38 +13123,38 @@ MONDO:0010029 situs inversus skos:closeMatch Orphanet:157769 Situs ambiguus sema MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary sjögren syndrome MONDO:0010030 Sjogren syndrome skos:closeMatch Orphanet:289390 Primary Sjögren syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270150 MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C70647 Sicca Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sicca syndrome -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty aldehyde dehydrogenase deficiency +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic neurologic disorder, and oligophrenia -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty alcohol:nad+ oxidoreductase deficiency -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faldh deficiency +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sjögren-larsson syndrome MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016111 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270200 MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037231 -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sjögren-larsson syndrome -MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch Orphanet:816 Sjögren-Larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048676 +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faldh deficiency +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty alcohol:nad+ oxidoreductase deficiency +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty aldehyde dehydrogenase deficiency +MONDO:0010031 Sjogren-Larsson syndrome skos:closeMatch OMIM:270200 sjogren-larsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic neurologic disorder, and oligophrenia MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement skos:closeMatch OMIM:270220 sjogren-larsson-like ichthyosis without cns or eye involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, sjogren-larsson-like, without cns or eye involvement MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010033 generalized peeling skin syndrome skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peeling skin syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010033 generalized peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peeling skin syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal acrodysgenital syndrome -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, sex reversal, renal hypoplasia, and unilobar lung -MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175694 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270400 MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019082 +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch Orphanet:818 Smith-Lemli-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175694 +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal acrodysgenital syndrome +MONDO:0010035 Smith-Lemli-Opitz syndrome skos:closeMatch OMIM:270400 smith-lemli-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, sex reversal, renal hypoplasia, and unilobar lung MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270420 -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium diarrhea, congenital MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, syndromic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium diarrhea, congenital MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 3, secretory sodium, congenital, with or without other congenital anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010036 congenital secretory sodium diarrhea 3 skos:closeMatch OMIM:270420 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 3, secretory sodium, congenital, syndromic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010037 sodium-potassium-ATPase activity of red cell skos:closeMatch OMIM:270425 sodium-potassium-atpase activity of red cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium pump sites, number of -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor i, resistance to -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf-i resistance -MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin, end-organ insensitivity to MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin-c, resistance to +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somatomedin, end-organ insensitivity to +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf-i resistance +MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch OMIM:270450 insulin-like growth factor i, resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor i, resistance to, due to increased binding protein MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270450 MONDO:0010038 growth delay due to insulin-like growth factor I resistance skos:closeMatch Orphanet:73273 Growth delay due to insulin-like growth factor I resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849157 @@ -13156,808 +13162,808 @@ MONDO:0010039 congenital heart defect-round face-developmental delay syndrome sk MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch Orphanet:1355 Congenital heart defect-round face-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270460 MONDO:0010039 congenital heart defect-round face-developmental delay syndrome skos:closeMatch OMIM:270460 sonoda syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym round face with depressed nasal bridge and small mouth, congenital heart defect, and retarded development MONDO:0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacs +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849140 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:270550 spastic ataxia, charlevoix-saguenay iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia of charlevoix-saguenay MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270550 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch OMIM:604490 SACS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacs -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536787 MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch NCIT:C154614 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay -MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849140 -MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931276 +MONDO:0010041 Charlevoix-Saguenay spastic ataxia skos:closeMatch Orphanet:98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia of charlevoix-saguenay MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270685 +MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch Orphanet:100998 Autosomal dominant spastic paraplegia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931276 MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010043 hereditary spastic paraplegia 17 skos:closeMatch OMIM:270685 spastic paraplegia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 17, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849128 -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and retinal degeneration -MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 15, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270700 MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536642 +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch Orphanet:100996 Autosomal recessive spastic paraplegia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849128 +MONDO:0010044 hereditary spastic paraplegia 15 skos:closeMatch OMIM:270700 spastic paraplegia 15, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and retinal degeneration MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796019 MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 23 MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch OMIM:270750 spastic paraplegia 23, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, vitiligo, premature graying, characteristic facies MONDO:0010046 hereditary spastic paraplegia 23 skos:closeMatch Orphanet:101003 Autosomal recessive spastic paraplegia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270750 -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849115 MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270800 +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch Orphanet:100986 Autosomal recessive spastic paraplegia type 5A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849115 +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch OMIM:270800 spastic paraplegia 5a, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 5a, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010047 hereditary spastic paraplegia 5A skos:closeMatch NCIT:C177250 Spastic Paraplegia 5A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 5a semapv:RegularExpressionReplacement MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849113 MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch Orphanet:2818 Spastic paraplegia-glaucoma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270850 MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paresis, glaucoma, and mental retardation MONDO:0010049 spastic paraplegia-glaucoma-intellectual disability syndrome skos:closeMatch OMIM:270850 spastic paresis, glaucoma, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paresis, glaucoma, and mental retardation -MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic quadriplegia, retinitis pigmentosa, and mental retardation MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic quadriplegia, retinitis pigmentosa, and mental retardation +MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch OMIM:270950 spastic quadriplegia, retinitis pigmentosa, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic quadriplegia, retinitis pigmentosa, and mental retardation MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270950 MONDO:0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome skos:closeMatch Orphanet:3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849112 -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia with maturation arrest MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenesis arrest -MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pregnancy loss, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia with maturation arrest MONDO:0010052 spermatogenic failure 4 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270960 +MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pregnancy loss, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010052 spermatogenic failure 4 skos:closeMatch OMIM:270960 spermatogenic failure 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia due to perturbations of meiosis MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch OMIM:270970 spherocytosis, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010053 hereditary spherocytosis type 3 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270970 +MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 4 semapv:RegularExpressionReplacement MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proximal spinal muscular atrophy type 4 -MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:83420 Proximal spinal muscular atrophy type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sma type 4 semapv:RegularExpressionReplacement MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch Orphanet:70 Proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271150 MONDO:0010056 spinal muscular atrophy, type IV skos:closeMatch OMIM:271150 spinal muscular atrophy, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, proximal, adult, autosomal recessive +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 7 (hepatocerebral type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile-onset -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile, with sensory neuropathy -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, infantile, with sensory neuropathy +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849096 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535523 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:1186 Infantile-onset spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849096 -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010060 infantile onset spinocerebellar ataxia skos:closeMatch Orphanet:363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271245 +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with blindness and deafness +MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849094 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271250 MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch Orphanet:95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with blindness and deafness -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome skos:closeMatch OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with dysmorphism MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysmorphism +MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch OMIM:271270 spinocerebellar ataxia with dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with dysmorphism MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271270 MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome skos:closeMatch Orphanet:1185 Spinocerebellar ataxia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849088 -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration and corneal dystrophy -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy with spinocerebellar degeneration -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration and corneal dystrophy +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271310 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535472 -MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271310 MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849087 +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration and corneal dystrophy +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy with spinocerebellar degeneration +MONDO:0010063 corneal-cerebellar syndrome skos:closeMatch OMIM:271310 spinocerebellar degeneration and corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration and corneal dystrophy MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271320 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch Orphanet:2572 Spastic ataxia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849085 MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia MONDO:0010064 spastic ataxia-corneal dystrophy syndrome skos:closeMatch OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia -MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar degeneration with slow eye movements MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar degeneration with slow eye movements -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenic hypoplasia +MONDO:0010065 spinocerebellar degeneration with slow eye movements skos:exactMatch OMIM:183090 spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar degeneration with slow eye movements +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asplenia, isolated congenital MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, familial +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271400 MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyposplenia, isolated congenital -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asplenia, isolated congenital MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asplenia, isolated congenital -MONDO:0010066 familial isolated congenital asplenia skos:closeMatch Orphanet:101351 Familial isolated congenital asplenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271400 +MONDO:0010066 familial isolated congenital asplenia skos:closeMatch OMIM:271400 asplenia, isolated congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenic hypoplasia MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylar and nasal alterations with striated metaphyses -MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sponastrime dysplasia +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch Orphanet:93357 SPONASTRIME dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271510 +MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylar and nasal alterations with striated metaphyses MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type skos:closeMatch OMIM:271510 spondyloepimetaphyseal dysplasia, sponastrime iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sponastrime dysplasia MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis with anal atresia and urogenital anomalies MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmn syndrome MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome skos:closeMatch OMIM:271520 spondylocostal dysostosis with anal atresia and urogenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis with anal atresia and urogenital anomalies -MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia with pure brachyolmia MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271530 +MONDO:0010070 brachyolmia type 1, Hobaek type skos:closeMatch OMIM:271530 brachyolmia iia 1, hobaek iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia with pure brachyolmia MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with mental retardation MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849053 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with mental retardation -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch Orphanet:163665 Spondyloepiphyseal dysplasia tarda, Kohn type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedt with mental retardation -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch OMIM:271620 spondyloepiphyseal dysplasia tarda with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia tarda with mental retardation -MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch OMIM:271630 brachyolmia iia 1, toledo iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paps-chondroitin sulfate sulfotransferase deficiency MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch Orphanet:448242 Autosomal recessive brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271630 +MONDO:0010074 brachyolmia type 1, toledo type skos:closeMatch OMIM:271630 brachyolmia iia 1, toledo iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paps-chondroitin sulfate sulfotransferase deficiency MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271640 -MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432213 MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271650 +MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type skos:closeMatch Orphanet:93351 Spondyloepimetaphyseal dysplasia, Irapa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432213 +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849011 +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl/ac MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch OMIM:271665 spondylometaepiphyseal dysplasia, short limb-hand iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch Orphanet:93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849011 -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch OMIM:271700 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloperipheral dysplasia with short ulna -MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796173 MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271700 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canavan-van bogaert-bertrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spongy degeneration of central nervous system -MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asp deficiency +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch Orphanet:1856 Spondyloperipheral dysplasia-short ulna syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535799 +MONDO:0010078 spondyloperipheral dysplasia skos:closeMatch OMIM:271700 spondyloperipheral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloperipheral dysplasia with short ulna MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067608 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206307 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314911 Severe Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 -MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canavan-van bogaert-bertrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspa deficiency -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal degeneration, familial -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatonigral degeneration, infantile +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spongy degeneration of central nervous system +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asp deficiency +MONDO:0010079 Canavan disease skos:closeMatch OMIM:271900 canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acy2 deficiency +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:314918 Mild Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271900 +MONDO:0010079 Canavan disease skos:closeMatch Orphanet:141 Canavan disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017825 MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label striatonigral degeneration, infantile +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatonigral degeneration, infantile +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal degeneration, familial MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 -MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile -MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile bilateral striatal necrosis +MONDO:0010080 familial infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271930 MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:99051 Discrete fixed membranous subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 +MONDO:0010081 subaortic stenosis, membranous skos:closeMatch Orphanet:3092 Fixed subaortic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271950 MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subaortic stenosis--short stature syndrome MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch OMIM:271960 subaortic stenosis--short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subaortic stenosis--short stature syndrome MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271960 MONDO:0010082 subaortic stenosis-short stature syndrome skos:closeMatch Orphanet:3191 Subaortic stenosis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795947 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency -MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268631 MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:271980 succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba metabolic defect +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ssadh deficiency +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271980 +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:22 Succinic semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268631 MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 -MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272100 MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis MONDO:0010085 Schilder disease skos:closeMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudanophilic cerebral sclerosis +MONDO:0010085 Schilder disease skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272100 MONDO:0010087 Sugarman brachydactyly skos:closeMatch OMIM:272150 sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with major proximal phalangeal shortening MONDO:0010087 Sugarman brachydactyly skos:closeMatch Orphanet:498602 Sugarman brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272150 MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sulfatase deficiency MONDO:0010088 mucosulfatidosis skos:closeMatch OMIM:272200 multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency -MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272200 MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268263 +MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272200 +MONDO:0010088 mucosulfatidosis skos:closeMatch Orphanet:585 Multiple sulfatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sulfatase deficiency MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:99731 Isolated sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 MONDO:0010089 isolated sulfite oxidase deficiency skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272300 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1802405 -MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272350 MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538142 +MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272350 +MONDO:0010090 Summitt syndrome skos:closeMatch Orphanet:3210 Summitt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1802405 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 +MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:1545 Crisponi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536214 -MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272430 MONDO:0010091 Cold-induced sweating syndrome 1 skos:closeMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sohar-crisponi syndrome MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 -MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation -MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filippi syndrome +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 +MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538152 +MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome +MONDO:0010092 Filippi syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filippi syndrome MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272440 -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label filippi syndrome -MONDO:0010092 Filippi syndrome skos:closeMatch Orphanet:3255 Filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795940 MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synspondylism, congenital MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch OMIM:272460 spondylocarpotarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, congenital, with unilateral unsegmented bar MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848934 MONDO:0010094 spondylocarpotarsal synostosis syndrome skos:closeMatch Orphanet:3275 Spondylocarpotarsal synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272460 -MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tapetoretinal degeneration with ataxia MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetoretinal degeneration with ataxia +MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch OMIM:272600 tapetoretinal degeneration with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tapetoretinal degeneration with ataxia MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848932 MONDO:0010095 ataxia-tapetoretinal degeneration syndrome skos:closeMatch Orphanet:1178 Ataxia-tapetoretinal degeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272600 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272750 +MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2 activator deficiency MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ab variant gm2-gangliosidosis -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, ab variant MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch NCIT:C133084 GM2-Gangliosidosis, AB Variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2-gangliosidosis, ab variant -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gm2 gangliosidosis, ab variant -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272750 -MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch Orphanet:309246 GM2 gangliosidosis, AB variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268275 MONDO:0010099 Tay-Sachs disease AB variant skos:closeMatch OMIM:272750 gm2-gangliosidosis, ab variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, variant b1 MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, pseudo-ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, variant b1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexa deficiency -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b variant gm2-gangliosidosis +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder, pseudo-ab variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043147 +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b variant gm2-gangliosidosis +MONDO:0010100 Tay-Sachs disease skos:closeMatch OMIM:272800 tay-sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gm2-gangliosidosis, variant b1 +MONDO:0010100 Tay-Sachs disease skos:closeMatch NCIT:C85184 Tay-Sachs Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013661 -MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 -MONDO:0010100 Tay-Sachs disease skos:closeMatch NCIT:C85184 Tay-Sachs Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexosaminidase a deficiency +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tay-sachs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043147 MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039373 +MONDO:0010100 Tay-Sachs disease skos:closeMatch Orphanet:845 Tay-Sachs disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272800 MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:272950 -MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 +MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch OMIM:272950 teebi-shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848912 +MONDO:0010101 Teebi-Shaltout syndrome skos:closeMatch Orphanet:3291 Teebi-Shaltout syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536950 MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, congenital absence of, with taurodontia and sparse hair MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, congenital absence of, with taurodontia and sparse hair MONDO:0010102 taurodontia-absent teeth-sparse hair syndrome skos:closeMatch OMIM:272980 teeth, congenital absence of, with taurodontia and sparse hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taurodontia, absent teeth, and sparse hair -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, noneruption of, with maxillary hypoplasia and genu valgum MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teeth, noneruption of, with maxillary hypoplasia and genu valgum -MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273050 +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch OMIM:273050 teeth, noneruption of, with maxillary hypoplasia and genu valgum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label teeth, noneruption of, with maxillary hypoplasia and genu valgum MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848903 -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male germ cell tumor +MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome skos:closeMatch Orphanet:2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273050 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatocytic seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, testicular -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch NCIT:C9309 Seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male germ cell tumor +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonal cell carcinoma MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014145 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoma, testicular MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonseminomatous germ cell tumors -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatocytic seminoma -MONDO:0010108 testicular germ cell tumor skos:closeMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonal cell carcinoma MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:876 Yolk sac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endodermal sinus tumor -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1336708 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:842 Testicular seminomatous germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363483 Testicular teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363494 Non-seminomatous germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273300 +MONDO:0010108 testicular germ cell tumor skos:closeMatch NCIT:C9309 Seminoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seminoma +MONDO:0010108 testicular germ cell tumor skos:closeMatch Orphanet:363504 Germ cell tumor of testis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1336708 +MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome, autosomal recessive MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931218 MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 -MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch OMIM:273395 tetraamelia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome, autosomal recessive +MONDO:0010110 tetraamelia-multiple malformations syndrome skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536500 MONDO:0010111 odontotrichomelic syndrome skos:closeMatch Orphanet:2723 Odontotrichomelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273400 -MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848864 MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273730 -MONDO:0010116 thoracomelic dysplasia skos:closeMatch OMIM:273740 thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'thoraco-limb' dysplasia +MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome skos:closeMatch Orphanet:1861 Thoracic dysplasia-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848864 MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848863 MONDO:0010116 thoracomelic dysplasia skos:closeMatch Orphanet:1803 Thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273740 +MONDO:0010116 thoracomelic dysplasia skos:closeMatch OMIM:273740 thoracomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 'thoraco-limb' dysplasia MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3m syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym le merrer syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gloomy face syndrome MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym le merrer syndrome +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dolichospondylic dysplasia MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3m syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273750 MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yakut short stature syndrome -MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dolichospondylic dysplasia -MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 +MONDO:0010117 3M syndrome 1 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273750 +MONDO:0010117 3M syndrome 1 skos:closeMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gloomy face syndrome MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 +MONDO:0010120 thrombocytopenia 3 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273900 MONDO:0010120 thrombocytopenia 3 skos:closeMatch OMIM:273900 thrombocytopenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274000 -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071719 -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175703 MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome -MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071719 +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274000 MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 200-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schulman-upshaw syndrome +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch OMIM:274000 thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tar syndrome +MONDO:0010121 thrombocytopenia-absent radius syndrome skos:closeMatch Orphanet:3320 Thrombocytopenia-absent radius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175703 +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upshaw factor, deficiency of MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, congenital -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic microangiopathy, familial MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic thrombocytopenic purpura, familial -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym upshaw factor, deficiency of -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia, congenital -MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombotic microangiopathy, familial MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schulman-upshaw syndrome +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93583 Congenital thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 +MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch OMIM:274150 thrombotic thrombocytopenic purpura, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathic hemolytic anemia, congenital MONDO:0010122 congenital thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274150 MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb agenesis, short stature, and immunodeficiency MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch OMIM:274190 thumb agenesis, short stature, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb agenesis, short stature, and immunodeficiency MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274190 MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome skos:closeMatch Orphanet:2951 Absent thumb-short stature-immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848818 -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274205 MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome skos:closeMatch Orphanet:2489 Upper limb defect-eye and ear abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848816 MONDO:0010127 thymoma, familial skos:closeMatch OMIM:274230 thymoma, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thymic neoplasia MONDO:0010127 thymoma, familial skos:closeMatch Orphanet:99867 Thymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274230 -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848813 MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274240 -MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrocerebroretinal syndrome +MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch Orphanet:3327 Thyrocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848813 MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrocerebroretinal syndrome -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 -MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 +MONDO:0010128 thyrocerebrorenal syndrome skos:closeMatch OMIM:274240 thyrocerebroretinal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrocerebroretinal syndrome MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848812 MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274265 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpd deficiency -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 +MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 +MONDO:0010129 thymic-renal-anal-lung dysplasia skos:closeMatch Orphanet:3326 Thymic-renal-anal-lung dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536907 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thymine-uraciluria, hereditary -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052622 -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpyd deficiency +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpd deficiency +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyrimidinemia, familial -MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959620 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054067 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274270 MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C3964 Dihydrouracil Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dihydrouracil dehydrogenase deficiency -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959620 +MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:closeMatch Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052622 MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refetoff syndrome -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gthr +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch NCIT:C17736 Thyroid Hormone Receptor Beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hormone receptor beta MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch Orphanet:566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274300 -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive skos:closeMatch OMIM:188570 thyroid hormone resistance, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormone unresponsiveness +MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid peroxidase deficiency +MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodide peroxidase deficiency MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch NCIT:C121750 Thyroid Peroxidase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid peroxidase deficiency -MONDO:0010133 thyroid dyshormonogenesis 2A skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274500 +MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271829 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274600 -MONDO:0010134 Pendred syndrome skos:closeMatch Orphanet:705 Pendred syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536648 MONDO:0010135 thyroid dyshormonogenesis 3 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274700 MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch NCIT:C131435 Deiodinase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deiodinase deficiency -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 -MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deiodinase deficiency +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch OMIM:274800 thyroid dyshormonogenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iodotyrosine dehalogenase deficiency +MONDO:0010136 thyroid dyshormonogenesis 4 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274800 MONDO:0010137 thyroid dyshormonogenesis 5 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274900 +MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, autoimmune +MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10WHO:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10CM:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:exactMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyrotoxicosis -MONDO:0010138 thyrotoxicosis skos:narrowMatch ICD10WHO:E05.8 Other thyrotoxicosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thyrotoxicosis semapv:RegularExpressionReplacement -MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, autoimmune -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin deficiency, isolated -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone deficiency -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin, biologically inactive +MONDO:0010138 thyrotoxicosis skos:closeMatch OMIM:275000 graves disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graves disorder, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary cretinism -MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh deficiency MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsh deficiency +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone deficiency +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin, biologically inactive +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch Orphanet:90674 Isolated thyroid-stimulating hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275100 +MONDO:0010139 isolated thyroid-stimulating hormone deficiency skos:closeMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin deficiency, isolated MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyrotropin-releasing hormone deficiency -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamic hypothyroidism -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone deficiency MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch Orphanet:238670 Isolated thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275120 -MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothalamic hypothyroidism +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone deficiency MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trh deficiency -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to tsh resistance +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch NCIT:C121741 Hypothalamic Hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothalamic hypothyroidism +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency skos:closeMatch OMIM:275120 thyrotropin-releasing hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamic hypothyroidism MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone, resistance to MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, nonautoimmune +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to tsh resistance MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism due to unresponsiveness to thyrotropin +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid-stimulating hormone, resistance to +MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, nonautoimmune MONDO:0010142 hypothyroidism due to TSH receptor mutations skos:closeMatch Orphanet:90673 Hypothyroidism due to TSH receptor mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275200 -MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence of MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thm +MONDO:0010144 tibial hemimelia skos:closeMatch OMIM:275220 tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence of MONDO:0010144 tibial hemimelia skos:closeMatch Orphanet:93322 Tibial hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275220 MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea imbricata, susceptibility to MONDO:0010146 Kerion celsi skos:closeMatch OMIM:275240 tinea imbricata, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tinea imbricata, susceptibility to MONDO:0010146 Kerion celsi skos:closeMatch Orphanet:499 Kerion celsi semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0276742 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040587 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713583 -MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275300 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044316 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014137 MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mounier-kühn syndrome +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713583 +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275300 +MONDO:0010148 Mounier-Kuhn syndrome skos:closeMatch Orphanet:3347 Mounier-Kühn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040587 +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275350 +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 +MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin deficiency MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tc type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcn2 deficiency -MONDO:0010149 transcobalamin II deficiency skos:closeMatch OMIM:275350 transcobalamin 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label transcobalamin deficiency -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342701 -MONDO:0010149 transcobalamin II deficiency skos:closeMatch Orphanet:859 Transcobalamin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275350 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494547 Squamous cell carcinoma of the hypopharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 -MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma, head and neck +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma, head and neck MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502363 Squamous cell carcinoma of the oral cavity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:502366 Squamous cell carcinoma of the lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch Orphanet:494550 Squamous cell carcinoma of the larynx semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275355 +MONDO:0010150 head and neck squamous cell carcinoma skos:closeMatch OMIM:275355 squamous cell carcinoma, head and neck semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squamous cell carcinoma, head and neck MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyelashes, long, with mental retardation MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch OMIM:275400 oliver-mcfarlane syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275400 MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome skos:closeMatch Orphanet:3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848745 MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichoodontoonychial dysplasia with bone deficiency -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502453 -MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichoodontoonychial dysplasia with bone deficiency MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275450 +MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch OMIM:275450 trichoodontoonychial dysplasia with bone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichoodontoonychial dysplasia with bone deficiency +MONDO:0010153 trichoodontoonychial dysplasia skos:closeMatch Orphanet:3355 Trichoodontoonychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502453 MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848743 MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch Orphanet:3368 Trigonocephaly-bifid nose-acral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275595 MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome skos:closeMatch OMIM:275595 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic neutral lipid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triglyceride storage disorder with impaired long-chain fatty acid oxidation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with leukocyte vacuolation -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dorfman-chanarin syndrome -MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275630 MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch Orphanet:98907 Neutral lipid storage disease with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with leukocyte vacuolation +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dorfman-chanarin syndrome MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chanarin-dorfman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic neutral lipid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010155 Dorfman-Chanarin disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triglyceride storage disorder with impaired long-chain fatty acid oxidation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393559 MONDO:0010156 Troyer syndrome skos:closeMatch Orphanet:101000 Autosomal recessive spastic paraplegia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275900 -MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis, childhood-onset, with distal muscle wasting +MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010156 Troyer syndrome skos:closeMatch OMIM:275900 spastic paraplegia 20, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 20, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood cancer syndrome MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turcot syndrome MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mismatch repair deficiency -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood cancer syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C3938 Turcot Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turcot syndrome -MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C136712 Mismatch Repair Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mismatch repair deficiency +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276300 +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch NCIT:C3938 Turcot Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turcot syndrome +MONDO:0010159 mismatch repair cancer syndrome 1 skos:closeMatch OMIM:276300 mismatch repair cancer syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmr deficiency +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with corneal dystrophy +MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine aminotransferase deficiency MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine transaminase deficiency MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tat deficiency -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyrosine aminotransferase deficiency -MONDO:0010160 tyrosinemia type II skos:closeMatch OMIM:276600 tyrosinemia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with corneal dystrophy MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 2 MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069463 MONDO:0010160 tyrosinemia type II skos:closeMatch Orphanet:28378 Tyrosinemia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276600 -MONDO:0010161 tyrosinemia type I skos:closeMatch OMIM:276700 tyrosinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency -MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 1 MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069462 +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 1 MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268490 +MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency MONDO:0010161 tyrosinemia type I skos:closeMatch Orphanet:882 Tyrosinemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276700 -MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvate dioxygenase deficiency +MONDO:0010161 tyrosinemia type I skos:closeMatch OMIM:276700 tyrosinemia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fah deficiency MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvic acid oxidase deficiency -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276710 +MONDO:0010162 tyrosinemia type III skos:closeMatch OMIM:276710 tyrosinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4-hydroxyphenylpyruvate dioxygenase deficiency MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyrosinemia type 3 -MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069461 MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268623 +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276710 +MONDO:0010162 tyrosinemia type III skos:closeMatch Orphanet:69723 Tyrosinemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069461 MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulna and fibula, absence of, with severe limb deficiency MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-awadi/raas-rothschild syndrome +MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulna and fibula, absence of, with severe limb deficiency MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schinzel phocomelia syndrome -MONDO:0010164 phocomelia, Schinzel type skos:closeMatch OMIM:276820 ulna and fibula, absence of, with severe limb deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb/pelvis-hypoplasia/aplasia syndrome MONDO:0010164 phocomelia, Schinzel type skos:closeMatch Orphanet:2879 Phocomelia, Schinzel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276820 MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931370 MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848650 MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276821 MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with mental retardation -MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with mental retardation -MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urocanase deficiency +MONDO:0010165 ulna hypoplasia-intellectual disability syndrome skos:closeMatch OMIM:276821 ulnar hypoplasia with mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency -MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268514 +MONDO:0010167 urocanic aciduria skos:closeMatch OMIM:276880 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urocanase deficiency MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 +MONDO:0010167 urocanic aciduria skos:closeMatch Orphanet:210128 Urocanic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268514 MONDO:0010168 Usher syndrome type 1 skos:exactMatch OMIM:276900 usher syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa and congenital deafness MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 MONDO:0010169 Usher syndrome type 2A skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276901 -MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 +MONDO:0010170 Usher syndrome type 3A skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276902 MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 MONDO:0010171 Usher syndrome type 1C skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276904 -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with macrocephaly and ventriculomegaly +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl association with hydrocephalus MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vacterl association with hydrocephalus +MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with macrocephaly and ventriculomegaly MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater association with hydrocephalus -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vacterl association with hydrocephalus -MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch OMIM:276950 vacterl association with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl association with hydrocephalus -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh anomaly -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von mayer-rokitansky-kuster anomaly -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bipartitus solidus rudimentarius cum vagina solida -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urogenital adysplasia -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrk anomaly -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome type 1 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rokitansky syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome type 1 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch NCIT:C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome -MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch Orphanet:247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277000 +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uterus bipartitus solidus rudimentarius cum vagina solida +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von mayer-rokitansky-kuster anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrk anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urogenital adysplasia +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrkh anomaly +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome +MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 skos:closeMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-kuster-hauser syndrome MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypervalinemia MONDO:0010174 Valinemia skos:closeMatch OMIM:277100 valinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine transaminase deficiency -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745997 -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi syndrome MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi-papp syndrome MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym váradi syndrome -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745997 +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277170 MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch NCIT:C124841 Orofaciodigital Syndrome Type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation +MONDO:0010176 orofaciodigital syndrome type 6 skos:closeMatch OMIM:277170 orofaciodigital syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010177 vascular hyalinosis skos:closeMatch Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277175 MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848587 MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277200 -MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right ventricular hypoplasia, isolated +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch Orphanet:439 Isolated right ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848587 MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irvh MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label right ventricular hypoplasia, isolated -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral dysplasia -MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 +MONDO:0010179 isolated right ventricular hypoplasia skos:closeMatch OMIM:277200 right ventricular hypoplasia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right ventricular hypoplasia, isolated MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:exactMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jarcho-levin syndrome +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocostal dysostosis type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym costovertebral dysplasia +MONDO:0010180 autosomal recessive spondylocostal dysostosis skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535781 MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction with external ophthalmoplegia MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277320 MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral myopathy, familial, with external ophthalmoplegia -MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral myopathy, familial, with external ophthalmoplegia MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, oculogastrointestinal +MONDO:0010181 oculogastrointestinal muscular dystrophy skos:closeMatch OMIM:277320 visceral myopathy, familial, with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral myopathy, familial, with external ophthalmoplegia MONDO:0010182 hypercarotenemia and vitamin A deficiency, autosomal recessive skos:closeMatch Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277350 -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NCIT:C183525 Methylmalonic Aciduria and Homocystinuria, cblF Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblf type +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 lysosomal release defect MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cobalamin f disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria due to vitamin b12-release defect -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria type cblf +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277380 -MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch OMIM:277380 methylmalonic aciduria and homocystinuria, cblf iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 lysosomal release defect -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, vitamin b12-responsive -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cblc +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF skos:closeMatch NCIT:C183525 Methylmalonic Aciduria and Homocystinuria, cblF Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblf type +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblc type +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, cblc type, digenic MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:608453 CBLC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cblc MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cblc -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, cblc type, digenic +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:79282 Methylmalonic acidemia with homocystinuria, type cblC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch OMIM:277400 methylmalonic aciduria and homocystinuria, cblc iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria and homocystinuria, vitamin b12-responsive MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277400 -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC skos:closeMatch NCIT:C142174 Methylmalonic Aciduria and Homocystinuria, cblC Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblc type -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cbld +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria, cbld type, variant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cbld type, variant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic acidemia, cblh type, formerly -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, cblh type, formerly -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NCIT:C183524 Methylmalonic Aciduria and Homocystinuria, cblD Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cbld type -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch OMIM:277410 methylmalonic aciduria and homocystinuria, cbld iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homocystinuria, cbld type, variant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia with homocystinuria, type cbld +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308380 Methylcobalamin deficiency type cblDv1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:79283 Methylmalonic acidemia with homocystinuria, type cblD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:28 Vitamin B12-responsive methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemic vitamin d-resistant rickets -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets-alopecia syndrome +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:622 Homocystinuria without methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch NCIT:C183524 Methylmalonic Aciduria and Homocystinuria, cblD Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cbld type +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD skos:closeMatch Orphanet:308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277410 +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized resistance to type 1,25-dihydroxyvitamin d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets, hereditary vitamin d-resistant +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemic vitamin d-resistant rickets MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rickets-alopecia syndrome MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin d-resistant rickets with end-organ unresponsiveness to type 1,25-dihydroxycholecalciferol semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemic vitamin d-resistant rickets -MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized resistance to type 1,25-dihydroxyvitamin d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch OMIM:277440 vitamin d-dependent rickets, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors ii, vii, ix, and x, combined deficiency of +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent coagulation defect +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamic acid, deficient gamma-carboxylation of MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factors ii, vii, ix, and x, combined deficiency of -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmfd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple coagulation factor deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vkcfd MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848534 -MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary combined deficiency of vitamin k-dependent clotting factors +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch OMIM:277450 vitamin k-dependent clotting factors, combined deficiency of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin k-dependent clotting factors, combined deficiency of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277460 -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277460 +MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535393 -MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, friedreich-like, with selective vitamin e deficiency MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047631 -MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with progressive cerebral atrophy +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch OMIM:277460 ataxia with vitamin e deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency +MONDO:0010188 familial isolated deficiency of vitamin E skos:closeMatch Orphanet:96 Ataxia with vitamin E deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia with vitamin e deficiency MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym volendam neurodegenerative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 -MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277470 +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch OMIM:277470 pontocerebellar hypoplasia, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with progressive cerebral atrophy MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch2 -MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010190 pontocerebellar hypoplasia type 2A skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277470 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 -MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264041 -MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277480 -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waardenburg-shah syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010191 von Willebrand disease 3 skos:closeMatch Orphanet:166096 Von Willebrand disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056729 +MONDO:0010191 von Willebrand disease 3 skos:closeMatch NCIT:C85213 von Willebrand Disease, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277580 MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shah-waardenburg syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waardenburg-shah syndrome +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws4 +MONDO:0010192 Waardenburg syndrome type 4A skos:closeMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome MONDO:0010193 Weaver syndrome skos:closeMatch NCIT:C125599 Weaver Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome -MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver-smith syndrome MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277590 MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265210 MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536687 -MONDO:0010193 Weaver syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265210 +MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weaver syndrome MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver syndrome +MONDO:0010193 Weaver syndrome skos:closeMatch OMIM:277590 weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weaver-smith syndrome MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277600 +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weill-marchesani syndrome, autosomal recessive MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome -MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277700 +MONDO:0010194 Weill-Marchesani syndrome 1 skos:closeMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weill-marchesani syndrome, autosomal recessive MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 +MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043119 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014898 MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049429 -MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043119 +MONDO:0010196 Werner syndrome skos:closeMatch Orphanet:902 Werner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277700 MONDO:0010197 whistling face syndrome, recessive form skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277720 +MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transketolase defect MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-induced encephalopathy MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome -MONDO:0010198 Wernicke-Korsakoff syndrome skos:closeMatch OMIM:277730 wernicke-korsakoff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transketolase defect -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 -MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277740 MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration -MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277900 +MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536700 +MONDO:0010199 white forelock with malformations skos:closeMatch Orphanet:2475 White forelock with malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848463 MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019202 +MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration +MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd +MONDO:0010200 Wilson disease skos:closeMatch NCIT:C84756 Hepatolenticular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatolenticular degeneration MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019819 +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006527 -MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd -MONDO:0010200 Wilson disease skos:closeMatch OMIM:277900 wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatolenticular degeneration -MONDO:0010200 Wilson disease skos:closeMatch NCIT:C84756 Hepatolenticular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatolenticular degeneration MONDO:0010200 Wilson disease skos:closeMatch OMIM:606882 ATP7B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnd +MONDO:0010200 Wilson disease skos:closeMatch Orphanet:905 Wilson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277900 MONDO:0010201 Winchester syndrome skos:closeMatch Orphanet:371428 Multicentric osteolysis-nodulosis-arthropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277950 MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277990 MONDO:0010203 intellectual disability, Wolff type skos:closeMatch Orphanet:3080 Intellectual disability, Wolff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848439 -MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolff mental retardation syndrome MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolff mental retardation syndrome -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester hydrolase deficiency +MONDO:0010203 intellectual disability, Wolff type skos:closeMatch OMIM:277990 wolff mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolff mental retardation syndrome +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipa deficiency MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch NCIT:C61271 Wolman Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesterol ester hydrolase deficiency MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:275761 Lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 -MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipa deficiency MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278000 -MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch NCIT:C61271 Wolman Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010204 lysosomal acid lipase deficiency skos:closeMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 +MONDO:0010206 hypotrichosis 8 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278150 MONDO:0010206 hypotrichosis 8 skos:closeMatch OMIM:278150 hypotrichosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 1, with or without hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, hypotrichosis, everted lower lip, and outstanding ears MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome skos:closeMatch OMIM:278200 woolly hair, hypotrichosis, everted lower lip, and outstanding ears semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woolly hair, hypotrichosis, everted lower lip, and outstanding ears MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 -MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406587 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:357058 Autosomal recessive cutis laxa type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278250 +MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406587 MONDO:0010208 wrinkly skin syndrome skos:closeMatch Orphanet:2834 Wrinkly skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536750 MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 MONDO:0010209 xanthinuria type I skos:closeMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278300 -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group a +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278700 MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group a +MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group a MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch OMIM:278700 xeroderma pigmentosum, complementation group a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a -MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278700 MONDO:0010210 xeroderma pigmentosum group A skos:closeMatch NCIT:C3965 Xeroderma Pigmentosum, Complementation Group A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group a -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group c -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278720 -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch NCIT:C114770 Xeroderma Pigmentosum, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group c -MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group d +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group c +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch NCIT:C114770 Xeroderma Pigmentosum, Complementation Group C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group c +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278720 +MONDO:0010211 xeroderma pigmentosum group C skos:closeMatch OMIM:278720 xeroderma pigmentosum, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group c MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group d MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp4 xeroderma pigmentosum viii, formerly MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group d -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group h, formerly -MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group h, formerly MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch NCIT:C3967 Xeroderma Pigmentosum, Complementation Group D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group d -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278730 +MONDO:0010212 xeroderma pigmentosum group D skos:closeMatch OMIM:278730 xeroderma pigmentosum, complementation group d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group d MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group e -MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpe MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group e MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278740 -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278750 -MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpe +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch OMIM:278740 xeroderma pigmentosum, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e +MONDO:0010213 xeroderma pigmentosum group E skos:closeMatch NCIT:C114771 Xeroderma Pigmentosum, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group e MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848410 MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536766 +MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum variant +MONDO:0010214 xeroderma pigmentosum variant type skos:closeMatch Orphanet:90342 Xeroderma pigmentosum variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278750 MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f -MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group f MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch OMIM:278760 xeroderma pigmentosum, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group f MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278760 MONDO:0010215 xeroderma pigmentosum group F skos:closeMatch NCIT:C3968 Xeroderma Pigmentosum, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group f -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xp, group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group g -MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group g +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch OMIM:278780 xeroderma pigmentosum, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum type 7 semapv:RegularExpressionReplacement +MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch NCIT:C3969 Xeroderma Pigmentosum, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group g MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 MONDO:0010216 xeroderma pigmentosum group G skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278780 -MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch OMIM:278850 46,xx sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010218 46,XX sex reversal 2 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:278850 +MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome +MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340037 +MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063689 MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, obstructive, and chronic sinopulmonary infections -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340037 -MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinusitis-infertility syndrome -MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barry-perkins-young syndrome -MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536718 MONDO:0010220 Young syndrome skos:closeMatch Orphanet:3471 Young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:279000 +MONDO:0010220 Young syndrome skos:closeMatch OMIM:279000 young syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barry-perkins-young syndrome MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848392 MONDO:0010221 CHIME syndrome skos:closeMatch Orphanet:3474 CHIME syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:280000 -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chime +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, congenital heart disorder, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chime MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zunich neuroectodermal syndrome -MONDO:0010221 CHIME syndrome skos:closeMatch OMIM:280000 coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome, x-linked -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz gbbb syndrome, x-linked +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz gbbb syndrome, x-linked +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz syndrome, x-linked MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telecanthus-hypospadias syndrome +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism-hypospadias syndrome +MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300001 -MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with abnormal genitalia MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc with abnormal genitalia MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch Orphanet:2508 Corpus callosum agenesis-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300004 +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with abnormal genitalia MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome skos:closeMatch OMIM:300004 corpus callosum, agenesis of, with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with abnormal genitalia -MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, hypercalciuric, x-linked MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, hypercalciuric, x-linked +MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, hypercalciuric, x-linked -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 +MONDO:0010225 Dent disease type 1 skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:exactMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 -MONDO:0010225 Dent disease type 1 skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 -MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, dax1-related +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dosage-sensitive sex reversal +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010226 46,XY sex reversal 2 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300018 MONDO:0010226 46,XY sex reversal 2 skos:closeMatch OMIM:300018 46,xy sex reversal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod degeneration, x-linked MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300029 +MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod degeneration, x-linked +MONDO:0010227 retinitis pigmentosa 3 skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4, congenital sensorineural semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300030 MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010228 hearing loss, X-linked 3 skos:closeMatch OMIM:300030 deafness, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4, congenital sensorineural semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010229 alopecia, congenital skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300042 -MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch OMIM:300046 intellectual developmental disorder, X-linked 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital short bowel syndrome, x-linked +MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch OMIM:300047 intellectual developmental disorder, X-linked 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciip, x-linked +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ipox MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300048 -MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ipox +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital idiopathic intestinal pseudoobstruction -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular heterotopia, bilateral periventricular -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:closeMatch OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital short bowel syndrome, x-linked MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, familial nodular +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular nodular, with frontometaphyseal dysplasia MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular heterotopia, bilateral periventricular MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300049 -MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular nodular, with frontometaphyseal dysplasia -MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010233 heterotopia, periventricular, X-linked dominant skos:closeMatch OMIM:300049 periventricular nodular heterotopia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spasticity +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome skos:closeMatch Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300055 -MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch OMIM:300062 intellectual developmental disorder, X-linked 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, with craniofacial dysmorphism +MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with craniofacial dysmorphism -MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931516 +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch OMIM:300064 mental retardation, x-linked, with craniofacial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, with craniofacial dysmorphism MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300064 +MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome skos:closeMatch Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931516 MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 6, progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural progressive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement @@ -13965,85 +13971,85 @@ MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-l MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch OMIM:300066 deafness, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010238 hearing loss, X-linked 4 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300066 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly and agenesis of corpus callosum +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dc syndrome +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia, x-linked MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch NCIT:C116933 Double Cortex Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label double cortex syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double cortex syndrome -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia, x-linked -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly and agenesis of corpus callosum MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlis -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dc syndrome +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia, x-linked MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:2148 Lissencephaly type 1 due to doublecortin gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848199 -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia, x-linked -MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300067 +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch NCIT:C116933 Double Cortex Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label double cortex syndrome +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation skos:closeMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double cortex syndrome MONDO:0010241 congenital stationary night blindness 2A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300071 MONDO:0010242 fetal akinesia syndrome, X-linked skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300073 -MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848144 MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300076 +MONDO:0010243 X-linked immunoneurologic disorder skos:closeMatch Orphanet:2571 X-linked immunoneurologic disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848144 MONDO:0010245 X-linked cone-rod dystrophy 2 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300085 +MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:101039 Female restricted epilepsy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848137 MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch OMIM:300088 developmental and epileptic encephalopathy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, female-restricted, with mental retardation -MONDO:0010246 developmental and epileptic encephalopathy, 9 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300088 +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder and cerebral sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanodermic leukodystrophy +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenomyeloneuropathy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenomyeloneuropathy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bronze schilder disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siemerling-creutzfeldt disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder and cerebral sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanodermic leukodystrophy -MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NCIT:C61252 Adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenomyeloneuropathy -MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 +MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch NCIT:C61252 Adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenoleukodystrophy MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch OMIM:300106 spondyloepimetaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked +MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300106 MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia skos:closeMatch Orphanet:93349 X-linked spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848097 -MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch OMIM:300114 raynaud-claes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300114 -MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 +MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch OMIM:300115 intellectual developmental disorder, X-linked 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with isolated growth hormone deficiency +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with panhypopituitarism -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch OMIM:300123 intellectual developmental disorder, x-linked, with panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with isolated growth hormone deficiency MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 -MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300123 MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfts +MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr2 MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with or without aura, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010253 migraine, familial typical, susceptibility to, 2 skos:closeMatch OMIM:300125 migraine with or without aura, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr2 MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to skos:closeMatch OMIM:300136 iia 1 diabetes mellitus, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-dependent diabetes mellitus, x-linked, susceptibility to -MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch OMIM:300143 intellectual developmental disorder, X-linked 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 -MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300147 MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch OMIM:300147 prostate cancer, hereditary, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer susceptibility, x-linked +MONDO:0010257 prostate cancer, hereditary, X-linked 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300147 +MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846278 MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 -MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537451 -MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846278 MONDO:0010258 MEHMO syndrome skos:closeMatch Orphanet:85282 MEHMO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300148 +MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010258 MEHMO syndrome skos:closeMatch OMIM:300148 mehmo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010259 retinitis pigmentosa 24 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300155 MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, congenital, lower limb, x-linked MONDO:0010260 arthrogryposis, congenital, lower limb, X-linked skos:closeMatch OMIM:300158 arthrogryposis, congenital, lower limb, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, congenital, lower limb, x-linked MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch OMIM:300166 microphthalmia, syndromic 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, radiculomegaly, and septal heart defects MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:2712 Oculofaciocardiodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 telomeric deletion syndrome -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch OMIM:300194 amme complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis +MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846242 MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ats-mr MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300194 -MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846242 MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytomegalic adrenocortical hypoplasia -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with isolated gonadotropin deficiency +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym addison disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia, congenital +MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with isolated gonadotropin deficiency MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahc with hhg -MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch OMIM:300200 adrenal hypoplasia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal hypoplasia, congenital MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300200 MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:95702 X-linked adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342482 MONDO:0010264 X-linked adrenal hypoplasia congenita skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia @@ -14051,355 +14057,355 @@ MONDO:0010264 X-linked adrenal hypoplasia congenita skos:closeMatch Orphanet:957 MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 skos:closeMatch OMIM:300209 simpson-golabi-behmel syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs2 MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch OMIM:300210 intellectual developmental disorder, X-linked 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlisg -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, with ambiguous genitalia MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and abnormal genitalia -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300216 +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlisg +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly, x-linked, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch Orphanet:452 X-linked lissencephaly with abnormal genitalia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 +MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch OMIM:300215 lissencephaly, x-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, x-linked, with ambiguous genitalia MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015901 +MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058456 -MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154832 +MONDO:0010269 Coats disease skos:closeMatch Orphanet:190 Coats disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300216 MONDO:0010269 Coats disease skos:closeMatch OMIM:300216 coats disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal telangiectasis +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300218 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537449 MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846170 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch Orphanet:85274 Syndromic X-linked intellectual disability 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300218 -MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmad x-linked mental retardation syndrome MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010270 syndromic X-linked intellectual disability 7 skos:closeMatch OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahmad x-linked mental retardation syndrome MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch Orphanet:456328 X-linked myotubular myopathy-abnormal genitalia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300219 MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy with abnormal genital development MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome skos:closeMatch OMIM:300219 myotubular myopathy with abnormal genital development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotubular myopathy with abnormal genital development MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300221 MONDO:0010273 lymphoma, Hodgkin, X-linked pseudoautosomal skos:closeMatch OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, x-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300232 -MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with metaphyseal chondrodysplasia MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym semd, x-linked, with mental deterioration +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch OMIM:300232 spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with metaphyseal chondrodysplasia +MONDO:0010275 spondyloepimetaphyseal dysplasia, Bieganski type skos:closeMatch Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300232 MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300238 MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch OMIM:300238 intellectual developmental disorder, x-linked, syndromic 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010277 syndromic X-linked intellectual disability Shashi type skos:closeMatch Orphanet:85286 X-linked intellectual disability, Shashi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shashi type MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678194 +MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type MONDO:0010278 Christianson syndrome skos:closeMatch Orphanet:85278 Christianson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300243 MONDO:0010278 Christianson syndrome skos:closeMatch OMIM:300243 intellectual developmental disorder, x-linked, syndromic, christianson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angelman-like syndrome, x-linked -MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osseous dysplasia, digital, with facial pigmentary defects and multiple frenula -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label terminal osseous dysplasia MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia and pigmentary defects -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300244 -MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch Orphanet:88630 Terminal osseous dysplasia-pigmentary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846129 -MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300245 +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpf syndrome +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label terminal osseous dysplasia +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odpd +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome skos:closeMatch OMIM:300244 terminal osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal osseous dysplasia MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptos2 MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch OMIM:300245 ptosis, hereditary congenital 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptosis, x-linked -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antopol disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolar cardiomyopathy and myopathy, x-linked -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoglycogenosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iib, formerly -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300257 -MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878677 +MONDO:0010280 ptosis, hereditary congenital 2 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300245 MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder due to lamp-2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878677 +MONDO:0010281 Danon disease skos:closeMatch Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300257 +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder iib semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal glycogen storage disorder without acid maltase deficiency, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd iib, formerly +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolar cardiomyopathy and myopathy, x-linked +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antopol disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010281 Danon disease skos:closeMatch OMIM:300257 danon disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoglycogenosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537723 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300260 -MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846058 MONDO:0010283 syndromic X-linked intellectual disability Lubs type skos:closeMatch OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mecp2 duplication syndrome MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846057 MONDO:0010284 Armfield syndrome skos:closeMatch Orphanet:85276 X-linked intellectual disability, Armfield type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300261 -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, abidi type +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846056 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300262 +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, abidi type MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abidi x-linked mental retardation syndrome -MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846056 +MONDO:0010285 syndromic X-linked intellectual disability Abidi type skos:closeMatch Orphanet:85273 X-linked intellectual disability, Abidi type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535556 +MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846055 +MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300263 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, siderius type MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537333 -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300263 -MONDO:0010286 syndromic X-linked intellectual disability Siderius type skos:closeMatch Orphanet:85287 X-linked intellectual disability, Siderius type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846055 -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846046 +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch OMIM:300266 spastic paraplegia 16, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 16, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300266 -MONDO:0010287 hereditary spastic paraplegia 16 skos:closeMatch Orphanet:100997 X-linked spastic paraplegia type 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536643 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 +MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846044 MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538051 -MONDO:0010288 adrenomyodystrophy skos:closeMatch Orphanet:977 Adrenomyodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300270 -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 -MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome +MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch OMIM:300271 intellectual developmental disorder, X-linked 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uruguay faciocardiomusculoskeletal syndrome +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uruguay faciocardiomusculoskeletal syndrome MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome skos:closeMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcms +MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846006 MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with immune deficiency MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with immune deficiency -MONDO:0010293 ectodermal dysplasia and immune deficiency skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846006 +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, x-linked +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xln MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845987 -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, x-linked MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch NCIT:C176818 Neutropenia, Severe Congenital, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked -MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, x-linked +MONDO:0010294 X-linked severe congenital neutropenia skos:closeMatch Orphanet:86788 X-linked severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300299 MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome skos:closeMatch OMIM:300291 ectodermal dysplasia and immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema -MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057589 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300322 +MONDO:0010296 immunodeficiency 61 skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300310 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lesch-nyhan syndrome, neurologic variant +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, neurologic variant MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, complete MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, neurologic variant MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300322 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007926 +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057589 MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lesch-nyhan syndrome, neurologic variant MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency -MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023374 -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, partial -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, hprt-related -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency, partial +MONDO:0010298 Lesch-Nyhan syndrome skos:closeMatch Orphanet:206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 deficiency, partial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt1 deficiency, partial +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, hprt-related +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hprt deficiency, partial MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268117 -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch Orphanet:79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome -MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch OMIM:300323 hyperuricemia, hprt-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch OMIM:300324 intellectual developmental disorder, X-linked 53 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 MONDO:0010302 Ito hypomelanosis skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incontinentia pigmenti achromians -MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010302 Ito hypomelanosis skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010304 Graves disease, susceptibility to, X-linked 1 skos:closeMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grdx1 -MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked creatine transporter deficiency -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency -MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome, x-linked MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, short stature, and midface hypoplasia MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine transporter defect MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency +MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome, x-linked MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300352 -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845861 -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 +MONDO:0010305 creatine transporter deficiency skos:closeMatch OMIM:300352 cerebral creatine deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with creatine transport deficiency +MONDO:0010305 creatine transporter deficiency skos:closeMatch Orphanet:52503 X-linked creatine transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked creatine transporter deficiency MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait -MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300354 +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch Orphanet:85293 X-linked intellectual disability, Cabezas type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845861 MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch NCIT:C167216 Mental Retardation, X-Linked, Syndromic, Cabezas Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, cabezas type -MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010306 X-linked intellectual disability, Cabezas type skos:closeMatch OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 +MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch OMIM:300355 intellectual developmental disorder, X-linked 73 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia skos:closeMatch Orphanet:67044 Thrombocytopenia with congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300367 MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 +MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopathia striata-cranial sclerosis syndrome MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432268 MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 -MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300373 +MONDO:0010310 osteopathia striata with cranial sclerosis skos:closeMatch Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536053 MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300376 MONDO:0010311 Becker muscular dystrophy skos:closeMatch Orphanet:98895 Becker muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059117 MONDO:0010311 Becker muscular dystrophy skos:closeMatch NCIT:C84587 Becker's Muscular Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beckers muscular dystrophy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010312 radial ray deficiency, X-linked skos:closeMatch OMIM:300378 radial ray deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rrdx MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 -MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 +MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch OMIM:300387 intellectual developmental disorder, X-linked 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch OMIM:300388 polymicrogyria, bilateral perisylvian, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perisylvian syndrome, congenital bilateral +MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 +MONDO:0010314 polymicrogyria, bilateral perisylvian, X-linked skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300388 MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch Orphanet:276 T-B+ severe combined immunodeficiency due to gamma chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300400 -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, x-linked -MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, x-linked +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked +MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency skos:closeMatch OMIM:300400 severe combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 87 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch OMIM:300419 intellectual developmental disorder, X-linked 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 87 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010318 FG syndrome 4 skos:closeMatch OMIM:300422 fg syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with or without nystagmus +MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, hedera type MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:93952 X-linked intellectual disability, Hedera type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch OMIM:300423 intellectual developmental disorder, x-linked, syndromic, hedera iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with epilepsy -MONDO:0010319 syndromic X-linked intellectual disability Hedera type skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300423 MONDO:0010320 retinitis pigmentosa 23 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300424 -MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 -MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300431 +MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch OMIM:300428 intellectual developmental disorder, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch OMIM:300431 atkin-flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atkin syndrome -MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010323 Atkin-Flaitz syndrome skos:closeMatch Orphanet:1193 Atkin-Flaitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300431 MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome +MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch OMIM:300433 intellectual developmental disorder, X-linked 81 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch OMIM:300436 intellectual developmental disorder, X-linked 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 -MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hsd10 deficiency, atypical type MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym syndromic x-linked intellectual disability type 10 +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked intellectual disability-choreoathetosis-abnormal behavior syndrome +MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:85295 HSD10 disease, atypical type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391417 HSD10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391428 HSD10 disease, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 MONDO:0010327 HSD10 mitochondrial disease skos:closeMatch Orphanet:391457 HSD10 disease, neonatal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300438 +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, acquired semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0585216 MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia myelodysplasia syndrome -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia myelodysplasia syndrome -MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch OMIM:300448 alpha-thalassemia myelodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, acquired semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome skos:closeMatch Orphanet:231401 Alpha-thalassemia-myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300448 MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch OMIM:300454 intellectual developmental disorder, X-linked 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 MONDO:0010331 coronary heart disease, susceptibility to, 3 skos:closeMatch OMIM:300464 coronary heart disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds3 -MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845450 MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300471 +MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome skos:closeMatch Orphanet:85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845450 MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome skos:closeMatch Orphanet:52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300472 -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, dystonia, and cerebral hypomyelination -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, and cerebral hypomyelination MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369942 CADDS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch Orphanet:369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300475 MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym contiguous abcd1/dxs1375e deletion syndrome +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, dystonia, and cerebral hypomyelination +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome skos:closeMatch OMIM:300475 deafness, dystonia, and cerebral hypomyelination semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, and cerebral hypomyelination MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300476 MONDO:0010335 X-linked cone-rod dystrophy 3 skos:closeMatch OMIM:300476 cone-rod dystrophy, x-linked, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with hypoplastic epiglottis -MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 8 MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:2755 Orofaciodigital syndrome type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300484 +MONDO:0010336 orofaciodigital syndrome VIII skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch Orphanet:137831 X-linked intellectual disability-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300486 -MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 60, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked recessive -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome skos:closeMatch OMIM:300486 intellectual developmental disorder, x-linked, syndromic, billuart iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 60, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845359 MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300489 -MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139557 X-linked distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked recessive +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dsmax +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 skos:closeMatch OMIM:300489 spinal muscular atrophy, distal, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845343 MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders skos:closeMatch Orphanet:85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300491 MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch OMIM:300505 intellectual developmental disorder, X-linked 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010347 intellectual disability, X-linked 84 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300505 MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic, due to ovarian dysgenesis -MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, x-linked +MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch OMIM:300510 ovarian dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010349 ovarian dysgenesis 2 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300510 -MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch OMIM:300514 fanconi anemia, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group b MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300514 -MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010351 Fanconi anemia complementation group B skos:closeMatch NCIT:C125703 Fanconi Anemia, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group b MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300518 -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsmp -MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym martin-probst deafness-mental retardation syndrome +MONDO:0010352 intellectual disability, X-linked 82 skos:closeMatch OMIM:300518 intellectual developmental disorder, X-linked 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness-intellectual disability syndrome, martin-probst type MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch Orphanet:85321 Deafness-intellectual disability syndrome, Martin-Probst type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300519 +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym martin-probst deafness-mental retardation syndrome +MONDO:0010353 deafness-intellectual disability, Martin-Probst type syndrome skos:closeMatch OMIM:300519 martin-probst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsmp +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t3 resistance +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triiodothyronine resistance +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with hypotonia +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and muscular atrophy -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795889 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triiodothyronine resistance +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795889 MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t3 resistance -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300523 -MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch OMIM:300523 allan-herndon-dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with hypotonia +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch NCIT:C118843 Allan-Herndon-Dudley Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allan-herndon-dudley syndrome +MONDO:0010354 Allan-Herndon-Dudley syndrome skos:closeMatch Orphanet:59 Allan-Herndon-Dudley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537047 MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300534 MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch Orphanet:85279 KDM5C-related syndromic X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845243 MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type skos:closeMatch OMIM:300534 intellectual developmental disorder, x-linked, syndromic, claes-jensen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, jarid1c-related -MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845202 +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis skos:closeMatch Orphanet:93606 Nephrogenic syndrome of inappropriate antidiuresis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300539 MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 MONDO:0010358 hypophosphatemic rickets, X-linked recessive skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300554 -MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845167 MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 -MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:exactMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 2 semapv:RegularExpressionReplacement MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 +MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010359 Dent disease type 2 skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010360 parkinson disease 12 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300557 -MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010360 parkinson disease 12 skos:closeMatch OMIM:300557 parkinson disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch OMIM:300558 intellectual developmental disorder, X-linked 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010361 intellectual disability, X-linked 30 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300558 MONDO:0010362 glycogen storage disease IXd skos:closeMatch Orphanet:715 Glycogen storage disease due to muscle phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300559 MONDO:0010362 glycogen storage disease IXd skos:closeMatch OMIM:300559 glycogen storage disease ixd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogenosis, x-linked MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch OMIM:300577 intellectual developmental disorder, X-linked 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795873 -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300578 MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xp11.3 deletion syndrome -MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp11.3 deletion syndrome MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with retinitis pigmentosa +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300578 +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795873 +MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome skos:closeMatch OMIM:300578 chromosome xp11.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp11.3 deletion syndrome MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300580 -MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, idiopathic, x-linked MONDO:0010367 SHOX-related short stature skos:closeMatch Orphanet:314795 SHOX-related short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300582 MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, idiopathic, x-linked -MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010367 SHOX-related short stature skos:closeMatch OMIM:300582 short stature, idiopathic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, idiopathic, x-linked MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls, x-linked +MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch OMIM:300589 nystagmus 5, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 5, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300590 -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label åland islands eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268505 +MONDO:0010370 Cornelia de Lange syndrome 2 skos:closeMatch OMIM:300590 cornelia lange lange syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdls, x-linked MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300600 +MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268505 +MONDO:0010371 Aland island eye disease skos:closeMatch Orphanet:178333 Åland Islands eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label åland islands eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010371 Aland island eye disease skos:closeMatch OMIM:300600 aland island eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aland island eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010374 retinitis pigmentosa 34 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300605 MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch OMIM:300607 developmental and epileptic encephalopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperekplexia and epilepsy -MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 +MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:163985 Hyperekplexia-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845102 MONDO:0010375 developmental and epileptic encephalopathy, 8 skos:closeMatch Orphanet:2076 X-linked intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300607 MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked hsan with deafness MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch OMIM:300614 deafness, X-linked 5, with peripheral neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, x-linked, type 1, with peripheral sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked hereditary sensory and autonomic neuropathy with deafness MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 -MONDO:0010379 Brunner syndrome skos:closeMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antisocial behavior, susceptibility to -MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796275 +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch Orphanet:139583 X-linked hereditary sensory and autonomic neuropathy with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked hereditary sensory and autonomic neuropathy with deafness MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300615 +MONDO:0010379 Brunner syndrome skos:closeMatch Orphanet:3057 Monoamine oxidase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796275 +MONDO:0010379 Brunner syndrome skos:closeMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antisocial behavior, susceptibility to MONDO:0010380 cataract, ataxia, short stature, and intellectual disability skos:closeMatch OMIM:300619 cataract, ataxia, short stature, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym casm syndrome MONDO:0010381 Tn polyagglutination syndrome skos:closeMatch OMIM:300622 tn polyagglutination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galactosyltransferase deficiency MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839780 MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch Orphanet:93256 Fragile X-associated tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300623 +MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile x tremor/ataxia syndrome MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch OMIM:300623 fragile 10 tremor/ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 tremor/ataxia syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010382 fragile X-associated tremor/ataxia syndrome skos:closeMatch NCIT:C126566 Fragile X Tremor/Ataxia Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile x tremor/ataxia syndrome -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with marxq28 -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marker type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked mental retardation and macroorchidism MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016667 MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017324 -MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005600 +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with marxq28 +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marker type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fragile type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 mental retardation syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:300624 fragile 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked mental retardation and macroorchidism MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary ovarian insufficiency, fragile x-associated MONDO:0010383 fragile X syndrome skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile type 10 premature ovarian failure semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010383 fragile X syndrome skos:closeMatch Orphanet:449291 Symptomatic form of fragile X syndrome in female carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300624 MONDO:0010384 hypospadias 1, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300633 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300635 @@ -14411,99 +14417,99 @@ MONDO:0010386 immunodeficiency 33 skos:closeMatch Orphanet:319612 X-linked mende MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch OMIM:300643 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resdx MONDO:0010388 rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked skos:closeMatch Orphanet:163721 Rolandic epilepsy-speech dyspraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300643 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical mycobacteriosis, familial, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch OMIM:300645 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atypical mycobacteriosis, familial, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 +MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocular albinism with sensorineural deafness -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, ocular, with late-onset sensorineural deafness -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism, ocular, with late-onset sensorineural deafness -MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300650 MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845069 +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch Orphanet:1000 Ocular albinism with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300650 MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness and ocular albinism +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, ocular, with late-onset sensorineural deafness +MONDO:0010390 ocular albinism with late-onset sensorineural deafness skos:closeMatch OMIM:300650 albinism, ocular, with late-onset sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albinism, ocular, with late-onset sensorineural deafness MONDO:0010391 angioma serpiginosum, X-linked skos:closeMatch Orphanet:95429 Angioma serpiginosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300652 MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970848 MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch OMIM:300653 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch NCIT:C126738 Phosphoglycerate Kinase 1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with macrocephaly +MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch OMIM:300659 intellectual developmental disorder, X-linked 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970827 -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch Orphanet:411543 Severe phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300661 MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity skos:closeMatch OMIM:300661 phosphoribosylpyrophosphate synthetase superactivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout, prps-related -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch OMIM:300672 developmental and epileptic encephalopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, neonatal severe, due to mecp2 mutations +MONDO:0010396 developmental and epileptic encephalopathy, 2 skos:closeMatch Orphanet:505652 CDKL5-deficiency disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300672 MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, neonatal severe, due to mecp2 mutations +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch OMIM:300673 encephalopathy, neonatal severe, due to mecp2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, neonatal severe, due to mecp2 mutations MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 MONDO:0010398 syndromic X-linked intellectual disability 14 skos:closeMatch OMIM:300676 intellectual developmental disorder, x-linked, syndromic 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs14 +MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300679 MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch OMIM:300679 chromosome xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complex glycerol kinase deficiency -MONDO:0010399 chromosome Xp21 deletion syndrome skos:closeMatch Orphanet:261476 Xp21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300679 MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch Orphanet:431272 X-linked scapuloperoneal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300695 -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, fhl1-related -MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scapuloperoneal myopathy, x-linked dominant MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, x-linked dominant -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with postural muscle atrophy +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scapuloperoneal myopathy, x-linked dominant +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy skos:closeMatch OMIM:300695 scapuloperoneal myopathy, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal myopathy, fhl1-related MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 6, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with postural muscle atrophy MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678055 -MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:178461 X-linked myopathy with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300699 -MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsw +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with postural muscle atrophy +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch OMIM:300696 myopathy, x-linked, with postural muscle atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with postural muscle atrophy +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 +MONDO:0010401 X-linked myopathy with postural muscle atrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300696 MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsw +MONDO:0010402 syndromic X-linked intellectual disability 94 skos:closeMatch Orphanet:364028 X-linked intellectual disability due to GRIA3 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300699 MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym albinism-deafness syndrome MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome -MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch OMIM:300700 albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym albinism-deafness syndrome MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300700 +MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label albinism-deafness syndrome MONDO:0010403 albinism-hearing loss syndrome skos:closeMatch Orphanet:998 Albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537042 -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch OMIM:300703 spinocerebellar ataxia, X-linked 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 MONDO:0010405 prostate cancer, hereditary, X-linked 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300704 -MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch OMIM:300705 chromosome xp11.22 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism +MONDO:0010406 chromosome Xp11.22 duplication syndrome skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300705 MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309590 MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juberg-marsidi syndrome +MONDO:0010407 intellectual disability, X-linked syndromic, Turner type skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678045 +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toe syndactyly, telecanthus, and anogenital and renal malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label toe syndactyly, telecanthus, and anogenital and renal malformations MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly with renal and anogenital malformations -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678045 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300707 -MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome skos:closeMatch Orphanet:140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym star syndrome MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, shrimpton type MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type skos:closeMatch Orphanet:85324 X-linked intellectual disability, Shrimpton type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300709 +MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacioskeletal syndrome MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacioskeletal syndrome MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300712 -MONDO:0010412 X-linked intellectual disability-craniofacioskeletal syndrome skos:closeMatch OMIM:300712 craniofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacioskeletal syndrome -MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300716 MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch OMIM:300716 intellectual developmental disorder, X-linked 95 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010413 intellectual disability, X-linked 95 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300716 MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1a, severe, with infantile or early childhood onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300717 +MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reducing body myopathy, x-linked type 1b, with late childhood or adult onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch Orphanet:97239 Reducing body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300749 -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677903 -MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, najm type MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micpch syndrome MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and microcephaly with pontine and cerebellar hypoplasia +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677903 +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300749 +MONDO:0010417 syndromic X-linked intellectual disability Najm type skos:closeMatch Orphanet:163937 X-linked intellectual disability, Najm type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, najm type MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300750 MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch Orphanet:171607 X-linked spastic paraplegia type 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677897 MONDO:0010418 hereditary spastic paraplegia 34 skos:closeMatch OMIM:300750 spastic paraplegia 34, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 34, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -14513,91 +14519,91 @@ MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protoporphyria, erythropoietic, x-linked dominant MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch Orphanet:443197 X-linked erythropoietic protoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300752 MONDO:0010420 X-linked erythropoietic protoporphyria skos:closeMatch OMIM:300752 protoporphyria, erythropoietic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrohepatic protoporphyria, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, x-linked MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221026 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060360 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537409 MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:47 X-linked agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221026 +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia, x-linked -MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch OMIM:300755 agammaglobulinemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, x-linked +MONDO:0010421 Bruton-type agammaglobulinemia skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300755 MONDO:0010423 hypospadias 2, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300758 -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2ra deficiency +MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300770 MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2ra deficiency -MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300770 +MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 skos:closeMatch OMIM:300770 surfactant metabolism dysfunction, pulmonary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2ra deficiency +MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band-shaped and whorled microcystic corneal epithelial dystrophy MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, lisch epithelial MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, lisch epithelial -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch OMIM:300778 corneal dystrophy, lisch epithelial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band-shaped and whorled microcystic corneal epithelial dystrophy -MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300778 MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749050 +MONDO:0010425 Lisch epithelial corneal dystrophy skos:closeMatch Orphanet:98955 Lisch epithelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300778 MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, endothelial, x-linked MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, endothelial, x-linked MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch OMIM:300779 corneal dystrophy, endothelial, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial corneal dystrophy, x-linked -MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749049 MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300779 +MONDO:0010426 X-linked endothelial corneal dystrophy skos:closeMatch Orphanet:293621 X-linked endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749049 MONDO:0010427 syndromic X-linked intellectual disability Raymond type skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300799 MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome skos:closeMatch Orphanet:217377 Microduplication Xp11.22p11.23 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300801 -MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 +MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch OMIM:300802 intellectual developmental disorder, X-linked 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch OMIM:300803 intellectual developmental disorder, X-linked 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 MONDO:0010431 Joubert syndrome 10 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300804 MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect skos:closeMatch OMIM:300807 thrombophilia, x-linked, due to factor 9 defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deep venous thrombosis, protection against +MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sarcoma, synovial +MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma, synovial MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300813 MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042863 MONDO:0010434 synovial sarcoma skos:closeMatch Orphanet:3273 Synovial sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039101 -MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sarcoma, synovial -MONDO:0010434 synovial sarcoma skos:closeMatch OMIM:300813 sarcoma, synovial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sarcoma, synovial -MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 +MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch OMIM:300814 nystagmus 6, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 6, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:293939 Distal Xq28 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 +MONDO:0010436 chromosome Xq28 duplication syndrome skos:closeMatch Orphanet:1762 Proximal Xq28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300815 MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300816 +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, mitochondrial, x-linked MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy skos:closeMatch OMIM:300816 combined oxidative phosphorylation deficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, mitochondrial, x-linked MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300818 MONDO:0010440 autism, susceptibility to, X-linked 4 skos:closeMatch OMIM:300830 autism, susceptibility to, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xp22 deletion syndrome MONDO:0010441 CK syndrome skos:closeMatch OMIM:300831 ck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with thin body habitus and cortical malformation MONDO:0010441 CK syndrome skos:closeMatch Orphanet:251383 CK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300831 MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 deletion syndrome -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sox3-related -MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 duplication syndrome MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 duplication syndrome +MONDO:0010442 46,XX sex reversal 3 skos:closeMatch OMIM:300833 46,xx sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sox3-related MONDO:0010442 46,XX sex reversal 3 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300833 MONDO:0010443 macular degeneration, X-linked atrophic skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300834 MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, x-linked, with or without neutropenia and/or platelet abnormalities MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch OMIM:300835 anemia, x-linked, with or without neutropenia and/or platelet abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, x-linked, with or without neutropenia and/or platelet abnormalities MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia skos:closeMatch Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300835 -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bed MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia, high, with nonprogressive cone dysfunction MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3159311 +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300843 MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bed +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch NCIT:C50367 Bed semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bed -MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch Orphanet:90001 X-linked cone dysfunction syndrome with myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300843 +MONDO:0010446 X-linked cone dysfunction syndrome with myopia skos:closeMatch OMIM:300843 bornholm eye disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bornholm eye disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch OMIM:300844 intellectual developmental disorder, X-linked 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300844 -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300845 MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq28 deletion syndrome, type 3.4-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300845 -MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 +MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch OMIM:300848 intellectual developmental disorder, X-linked 89 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch OMIM:300849 intellectual developmental disorder, X-linked 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 +MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch OMIM:300850 intellectual developmental disorder, X-linked 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch OMIM:300851 intellectual developmental disorder, X-linked 92 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 92 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300852 @@ -14608,15 +14614,15 @@ MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 MONDO:0010456 renal cell carcinoma, Xp11-associated skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010456 renal cell carcinoma, Xp11-associated skos:closeMatch Orphanet:319308 MiT family translocation renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300854 MONDO:0010457 Ogden syndrome skos:closeMatch Orphanet:276432 Ogden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300855 -MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:arylamine n-acetyltransferase MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010457 Ogden syndrome skos:closeMatch OMIM:108345 NAT1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa:arylamine n-acetyltransferase MONDO:0010457 Ogden syndrome skos:closeMatch NCIT:C129845 Arylamine N-Acetyltransferase 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arylamine n-acetyltransferase type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300856 -MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300857 -MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010458 hypospadias 4, X-linked skos:closeMatch OMIM:300856 hypospadias 4, x-linked, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospadias type 4, x-linked, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010458 hypospadias 4, X-linked skos:closeMatch Orphanet:95706 Non-syndromic posterior hypospadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300856 MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 15 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010459 amyotrophic lateral sclerosis type 15 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300857 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs17 MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with alacrima and achalasia MONDO:0010460 syndromic X-linked intellectual disability 17 skos:closeMatch Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300858 @@ -14625,106 +14631,106 @@ MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:cl MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010461 syndromic X-linked intellectual disability Nascimento type skos:closeMatch OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxsn MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type skos:closeMatch OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with seizures, hypogammaglobulinemia, and gait disturbance -MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type skos:closeMatch Orphanet:163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300863 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked cerebral-cerebellar-coloboma syndrome MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch Orphanet:163961 X-linked cerebral-cerebellar-coloboma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300864 MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral-cerebellar-coloboma syndrome, x-linked MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome skos:closeMatch OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral-cerebellar-coloboma syndrome, x-linked -MONDO:0010465 Kabuki syndrome 2 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300867 MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kabuki syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010465 Kabuki syndrome 2 skos:closeMatch OMIM:300867 kabuki syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kabuki syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010465 Kabuki syndrome 2 skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300867 MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 skos:closeMatch Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300868 MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq27.3-q28 duplication syndrome MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch OMIM:300869 chromosome xq27.3-q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.3-q28 duplication syndrome MONDO:0010467 Xq27.3q28 duplication syndrome skos:closeMatch Orphanet:261483 Xq27.3q28 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300869 -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 +MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch OMIM:300870 aneurysm, intracranial berry, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epsilon-trimethyllysine hydroxylase deficiency MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency skos:closeMatch OMIM:300872 autism, susceptibility to, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autism, susceptibility to, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010471 Cornelia de Lange syndrome 5 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300882 +MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg is MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch Orphanet:324422 ALG13-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300884 MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:exactMatch NCIT:C142803 Developmental and Epileptic Encephalopathy 36 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010472 developmental and epileptic encephalopathy, 36 skos:closeMatch OMIM:300884 developmental and epileptic encephalopathy 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg is MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome skos:closeMatch Orphanet:324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300886 -MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300887 +MONDO:0010474 linear skin defects with multiple congenital anomalies 2 skos:closeMatch OMIM:300887 linear skin defects with multiple congenital anomalies 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement skos:closeMatch Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300888 MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym static encephalopathy of childhood with neurodegeneration in adulthood MONDO:0010476 neurodegeneration with brain iron accumulation 5 skos:closeMatch Orphanet:329284 Beta-propeller protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300894 +MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300895 MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohdo syndrome, x-linked MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch OMIM:300895 ohdo syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ohdo syndrome, x-linked -MONDO:0010477 blepharophimosis - intellectual disability syndrome, MKB type skos:closeMatch Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300895 MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch Orphanet:356961 SLC35A2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300896 -MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iim MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010478 SLC35A2-congenital disorder of glycosylation skos:closeMatch OMIM:300896 congenital disorder of glycosylation, iia iim semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iim +MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300905 MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 skos:closeMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, x-linked dominant, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency skos:closeMatch Orphanet:466026 Class I glucose-6-phosphate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300908 MONDO:0010481 angioedema skos:closeMatch Orphanet:658 Non-histaminic angioedema semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym angioneurotic edema MONDO:0010481 angioedema skos:exactMatch NCIT:C112175 Angioedema semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label angioedema MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinsonism with spasticity, x-linked -MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism with spasticity, x-linked MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch Orphanet:363654 X-linked parkinsonism-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300911 +MONDO:0010482 X-linked parkinsonism-spasticity syndrome skos:closeMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism with spasticity, x-linked MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch Orphanet:85277 X-linked intellectual disability, Cantagrel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement -MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 6 semapv:RegularExpressionReplacement MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch OMIM:300914 deafness, X-linked 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 6 semapv:RegularExpressionReplacement MONDO:0010484 hearing loss, X-linked 6 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300914 -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch Orphanet:431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch OMIM:300915 microphthalmia, syndromic 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 -MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 +MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch OMIM:300919 intellectual developmental disorder, X-linked 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 99 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch OMIM:300923 intellectual developmental disorder, X-linked 100 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch OMIM:300928 intellectual developmental disorder, X-linked 101 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch OMIM:300934 congenital disorder of glycosylation, iia iy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26.3 duplication syndrome +MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch Orphanet:370927 SSR4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq26.3 duplication syndrome MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26 microduplication syndrome +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq26.3 duplication syndrome MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked acrogigantism -MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch OMIM:300942 chromosome xq26.3 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq26.3 duplication syndrome -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked acrogigantism +MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication skos:closeMatch Orphanet:300373 X-linked acrogigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300942 MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly, x-linked +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly, x-linked MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch OMIM:300943 pituitary adenoma 2, growth hormone-secreting semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pituitary adenoma type 2, growth hormone-secreting semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300946 -MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with cardiomyopathy and other congenital anomalies MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300952 +MONDO:0010494 linear skin defects with multiple congenital anomalies 3 skos:closeMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with cardiomyopathy and other congenital anomalies MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 -MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300958 +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome skos:closeMatch Orphanet:457240 X-linked intellectual disability-short stature-overweight syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300957 MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch NCIT:C129931 Mental Retardation, X-linked 102 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 +MONDO:0010497 intellectual disability, X-linked 102 skos:closeMatch Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300958 MONDO:0010498 MEND syndrome skos:closeMatch OMIM:300960 mend syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male ebp disorder with neurologic defects +MONDO:0010498 MEND syndrome skos:closeMatch Orphanet:401973 MEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300960 MONDO:0010499 Ritscher-Schinzel syndrome 2 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300963 MONDO:0010500 intellectual disability, X-linked, syndromic 33 skos:closeMatch Orphanet:480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300966 MONDO:0010501 syndromic X-linked intellectual disability 34 skos:closeMatch Orphanet:466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300967 MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch Orphanet:480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 MONDO:0010503 Bartter disease type 5 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300971 MONDO:0010504 immunodeficiency 47 skos:closeMatch OMIM:300972 immunodeficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and hepatopathy with or without neurologic features -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866985 MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300977 -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early balding, patella luxation, acromicria, and hypogonadism +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch Orphanet:3041 Intellectual disability-balding-patella luxation-acromicria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866985 MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scholte syndrome +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early balding, patella luxation, acromicria, and hypogonadism MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome skos:closeMatch OMIM:300977 scholte syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scholte syndrome MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 MONDO:0010507 Xq25 microduplication syndrome skos:closeMatch Orphanet:521258 Xq25 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300979 @@ -14738,330 +14744,330 @@ MONDO:0010515 Meester-Loeys syndrome skos:exactMatch Orphanet:622925 X-linked se MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis skos:closeMatch Orphanet:86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300990 MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch OMIM:300991 ciliary dyskinesia, primary, 36, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 36, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch OMIM:301000 wiskott-aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldrich syndrome -MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043194 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047992 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043194 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014923 MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301000 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx +MONDO:0010518 Wiskott-Aldrich syndrome skos:closeMatch OMIM:301000 wiskott-aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldrich syndrome +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301040 -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, x-linked MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrx MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845055 +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-thalassemia/mental retardation syndrome, x-linked +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:301040 alpha-thalassemia/impaired intellectual development syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch OMIM:300032 ATRX semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrx -MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-thalassemia-x-linked intellectual disability syndrome -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 +MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301050 MONDO:0010520 X-linked Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, with snow-capped teeth -MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked +MONDO:0010521 amelogenesis imperfecta type 1E skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301200 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta type 3, hypoplastic type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301200 amelogenesis imperfecta, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enamel hypoplasia, x-linked -MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmentary disorder, reticulate, with systemic manifestations, x-linked +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301201 +MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 skos:closeMatch OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta type 3, hypoplastic type, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmentary disorder, reticulate, with systemic manifestations, x-linked +MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmentary disorder, reticulate, with systemic manifestations, x-linked MONDO:0010523 X-linked reticulate pigmentary disorder skos:closeMatch Orphanet:85453 X-linked reticulate pigmentary disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301220 -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845028 -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301310 MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked sideroblastic anemia and spinocerebellar ataxia +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845028 +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlsa-a MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, and spinocerebellar ataxia MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch OMIM:301310 anemia, sideroblastic, and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, and spinocerebellar ataxia -MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlsa-a +MONDO:0010524 X-linked sideroblastic anemia with ataxia skos:closeMatch Orphanet:2802 X-linked sideroblastic anemia and spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301310 +MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 MONDO:0010525 neural tube defects, X-linked skos:closeMatch OMIM:301410 neural tube defects, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, x-linked MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 -MONDO:0010525 neural tube defects, X-linked skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301410 +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramide trihexosidase deficiency +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary dystopic lipidosis +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gla deficiency +MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fabry disorder, cardiac variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301500 -MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016016 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000795 MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002986 -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fabry disorder, cardiac variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gla deficiency -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary dystopic lipidosis -MONDO:0010526 Fabry disease skos:closeMatch OMIM:301500 fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceramide trihexosidase deficiency -MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia +MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016016 +MONDO:0010526 Fabry disease skos:closeMatch Orphanet:324 Fabry disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301500 MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anosmia -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844936 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 +MONDO:0010528 anosmia skos:exactMatch NCIT:C116369 Anosmia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anosmia MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-deafness syndrome, x-linked MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844936 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch Orphanet:85297 X-linked spinocerebellar ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch OMIM:301790 spinocerebellar ataxia, X-linked 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked lethal infantile +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome skos:closeMatch Orphanet:1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301815 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis multiplex congenita, distal, x-linked -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc, distal, x-linked -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, infantile x-linked MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844934 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301830 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch Orphanet:1145 Infantile-onset X-linked spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535380 -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796028 +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked lethal infantile +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amc, distal, x-linked +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy skos:closeMatch OMIM:301830 spinal muscular atrophy, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, infantile x-linked +MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301835 MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535388 -MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301835 -MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, fatal x-linked, with deafness and loss of vision +MONDO:0010533 Arts syndrome skos:closeMatch Orphanet:1187 Lethal ataxia with deafness and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796028 MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 +MONDO:0010533 Arts syndrome skos:closeMatch OMIM:301835 arts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, fatal x-linked, with deafness and loss of vision +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-dementia syndrome, x-linked MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 -MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406355 +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch OMIM:301840 spinocerebellar ataxia, X-linked 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch Orphanet:85292 X-linked spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844933 MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:113 Bazex-Dupré-Christol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301845 -MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubulin, beta +MONDO:0010535 Bazex-Dupre-Christol syndrome skos:closeMatch Orphanet:166113 Bazex syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406355 MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tubulin, beta -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, epilepsy, and endocrine disorders -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borjeson-forssman-lehmann syndrome +MONDO:0010536 tubulin, beta skos:exactMatch OMIM:191130 TUBB semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tubulin, beta +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch NCIT:C157122 Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301900 -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265339 -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301940 -MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch OMIM:301940 brachydactyly, mononen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs and great toes, short and abducted +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label borjeson-forssman-lehmann syndrome +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym borjeson-forssman-lehmann syndrome +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch OMIM:301900 borjeson-forssman-lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, epilepsy, and endocrine disorders +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome skos:closeMatch Orphanet:127 Borjeson-Forssman-Lehmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536575 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931060 +MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch OMIM:301940 brachydactyly, mononen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumbs and great toes, short and abducted +MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301940 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 MONDO:0010538 Mononen-Karnes-Senac syndrome skos:closeMatch Orphanet:2565 Mononen-Karnes-Senac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535914 -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301950 MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844918 -MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial arch syndrome, x-linked +MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch Orphanet:1131 X-linked mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301950 MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchial arch syndrome, x-linked -MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302000 +MONDO:0010539 X-linked mandibulofacial dysostosis skos:closeMatch OMIM:301950 branchial arch syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchial arch syndrome, x-linked MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795974 -MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calvarial hyperostosis +MONDO:0010540 bullous dystrophy, macular type skos:closeMatch Orphanet:1867 Hereditary bullous dystrophy, macular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302000 MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch Orphanet:391327 X-linked calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302030 +MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calvarial hyperostosis MONDO:0010541 X-linked calvarial hyperostosis skos:closeMatch OMIM:302030 calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calvarial hyperostosis -MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, x-linked MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch OMIM:302045 cardiomyopathy, dilated, 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574083 +MONDO:0010542 dilated cardiomyopathy 3B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302045 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302060 MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056889 +MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574083 MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barth syndrome -MONDO:0010543 Barth syndrome skos:closeMatch NCIT:C84585 Barth Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010543 Barth syndrome skos:closeMatch OMIM:302060 barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome +MONDO:0010543 Barth syndrome skos:closeMatch NCIT:C84585 Barth Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome MONDO:0010543 Barth syndrome skos:closeMatch Orphanet:111 Barth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label barth syndrome -MONDO:0010544 cataract 40 skos:closeMatch OMIM:302200 cataract 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, x-linked MONDO:0010544 cataract 40 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302200 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-dental syndrome -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, x-linked, with hutchinsonian teeth -MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesiodens-cataract syndrome +MONDO:0010544 cataract 40 skos:closeMatch OMIM:302200 cataract 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, x-linked MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302350 MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 -MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796085 +MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract-dental syndrome +MONDO:0010545 Nance-Horan syndrome skos:closeMatch Orphanet:627 Nance-Horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538336 +MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, x-linked, with hutchinsonian teeth +MONDO:0010545 Nance-Horan syndrome skos:closeMatch OMIM:302350 nance-horan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesiodens-cataract syndrome +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 +MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy, x-linked MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca, x-linked -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch OMIM:302500 spinocerebellar ataxia, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:314978 X-linked non progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 -MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement, early-onset MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth peroneal muscular atrophy, x-linked -MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393808 +MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch OMIM:302600 spinocerebellar ataxia, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement, early-onset MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:101075 X-linked Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393808 MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch Orphanet:1175 X-linked progressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302800 +MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 skos:closeMatch OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth peroneal muscular atrophy, x-linked MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302801 MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 skos:closeMatch Orphanet:101076 X-linked Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844873 -MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844865 MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302802 +MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 skos:closeMatch Orphanet:101077 X-linked Charcot-Marie-Tooth disease type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844865 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch OMIM:302905 abruzzo-erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844862 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535559 -MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch OMIM:302905 abruzzo-erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charge-like syndrome, x-linked -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0010554 Abruzzo-Erickson syndrome skos:closeMatch Orphanet:921 Abruzzo-Erickson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302905 MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302950 -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:exactMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata, brachytelephalangic MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpxr MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia punctata type 1, x-linked recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010555 X-linked chondrodysplasia punctata 1 skos:closeMatch OMIM:302950 chondrodysplasia punctata 1, X-linked recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpxr MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked dominant chondrodysplasia punctata MONDO:0010556 X-linked chondrodysplasia punctata skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263627 MONDO:0010556 X-linked chondrodysplasia punctata skos:exactMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodystrophia calcificans congenita MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303100 -MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetochoroidal dystrophy, progressive -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 -MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis +MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tapetochoroidal dystrophy, progressive +MONDO:0010557 choroideremia skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008525 +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008791 +MONDO:0010557 choroideremia skos:closeMatch Orphanet:180 Choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015794 +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303110 +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844836 +MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq21 deletion syndrome MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroideremia, deafness, and mental retardation MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome xq21 deletion syndrome -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch OMIM:303110 chromosome xq21 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq21 deletion syndrome -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844836 -MONDO:0010558 choroideremia-deafness-obesity syndrome skos:closeMatch Orphanet:1435 Xq21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303110 -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clasped thumb and mental retardation +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, congenital clasped, with mental retardation MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303350 MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, aphasia, shuffling gait, and adducted thumbs MONDO:0010559 MASA syndrome skos:closeMatch Orphanet:2466 MASA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795953 -MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thumb, congenital clasped, with mental retardation MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clasped thumb and mental retardation MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb with mental retardation MONDO:0010559 MASA syndrome skos:closeMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crash syndrome MONDO:0010560 cleft palate with or without ankyloglossia, X-linked skos:closeMatch Orphanet:324601 X-linked cleft palate and ankyloglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303400 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch OMIM:303600 coffin-lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-lowry syndrome -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303600 +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome +MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265252 MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d038921 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch Orphanet:192 Coffin-Lowry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303600 -MONDO:0010561 Coffin-Lowry syndrome skos:closeMatch NCIT:C84643 Coffin-Lowry Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-lowry syndrome MONDO:0010562 colonic atresia skos:closeMatch Orphanet:1198 Colonic atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303650 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536238 MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:16 Blue cone monochromatism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 MONDO:0010563 blue cone monochromacy skos:closeMatch OMIM:303700 blue cone monochromacy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy type 5, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010563 blue cone monochromacy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:303700 -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, deutan series MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym green colorblindness -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deutan colorblindness -MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deuteranomaly +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, deutan series MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, deutan series -MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, protan series -MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, protan series +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deuteranomaly +MONDO:0010564 red-green color blindness skos:closeMatch OMIM:303800 colorblindness, partial, deutan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deutan colorblindness MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red colorblindness +MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label colorblindness, partial, protan series MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protanomaly -MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 +MONDO:0010565 red color blindness skos:closeMatch OMIM:303900 colorblindness, partial, protan series semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, partial, protan series MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304020 MONDO:0010566 X-linked cone-rod dystrophy 1 skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304030 -MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054935 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175713 MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058540 +MONDO:0010568 Aicardi syndrome skos:closeMatch Orphanet:50 Aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304050 MONDO:0010568 Aicardi syndrome skos:closeMatch OMIM:304050 aicardi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with chorioretinal abnormality -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 -MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, partial agenesis of, x-linked MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839909 +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, partial agenesis of, x-linked +MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:1497 X-linked complicated corpus callosum dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch OMIM:304100 corpus callosum, partial agenesis of, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, partial agenesis of, x-linked MONDO:0010569 X-linked complicated corpus callosum dysgenesis skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304100 -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304110 -MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220767 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 +MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304110 +MONDO:0010570 craniofrontonasal syndrome skos:closeMatch Orphanet:1520 Craniofrontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536456 MONDO:0010570 craniofrontonasal syndrome skos:closeMatch OMIM:304110 craniofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofrontonasal dysostosis MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioorodigital syndrome -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 -MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch OMIM:304120 otopalatodigital syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciopalatoosseous syndrome +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304120 +MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 MONDO:0010571 otopalatodigital syndrome type 2 skos:closeMatch Orphanet:90652 Otopalatodigital syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538089 MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, occipital horn type, formerly -MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds9, formerly MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, x-linked, formerly +MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds9, formerly MONDO:0010572 occipital horn syndrome skos:closeMatch OMIM:304150 occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ix, formerly -MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304150 MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010572 occipital horn syndrome skos:closeMatch Orphanet:198 Occipital horn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537860 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796254 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch NCIT:C124839 Pettigrew Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dandy-walker malformation, basal ganglia disorder, and seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85335 Fried syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fried syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796254 +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome -MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch NCIT:C124839 Pettigrew Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pettigrew syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch OMIM:304340 pettigrew syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pettigrew syndrome +MONDO:0010574 syndromic X-linked intellectual disability 5 skos:closeMatch Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304340 MONDO:0010575 deafness-hypogonadism syndrome skos:closeMatch Orphanet:90646 Deafness-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304350 MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, mixed, with perilymphatic gusher +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness type 3, conductive, with stapes fixation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, conductive, with stapes fixation -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nance deafness +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym perilymphatic gusher-deafness syndrome -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness type 3, conductive, with stapes fixation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2, sensorineural congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 2 semapv:RegularExpressionReplacement +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch OMIM:304400 deafness, X-linked 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nance deafness +MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 2, sensorineural congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, x-linked type 1 semapv:RegularExpressionReplacement MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304500 MONDO:0010577 hearing loss, X-linked 1 skos:closeMatch OMIM:304500 deafness, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, x-linked type 1 semapv:RegularExpressionReplacement +MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mohr-tranebjaerg syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-dystonia-optic atrophy syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304700 MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-deafness syndrome -MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mohr-tranebjaerg syndrome -MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 +MONDO:0010578 deafness dystonia syndrome skos:closeMatch OMIM:304700 mohr-tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness-dystonia-optic atrophy syndrome MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796074 MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mohr-tranebjaerg syndrome -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304730 -MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844671 +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304700 +MONDO:0010578 deafness dystonia syndrome skos:closeMatch Orphanet:52368 Mohr-Tranebjaerg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535808 MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoids of cornea MONDO:0010579 X-linked corneal dermoid skos:closeMatch OMIM:304730 dermoids of cornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoids of cornea +MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844671 +MONDO:0010579 X-linked corneal dermoid skos:closeMatch Orphanet:1661 X-linked corneal dermoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304730 +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, polyendocrinopathy, and enteropathy, x-linked, formerly MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iddm-secretory diarrhea syndrome -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodysregulation, polyendocrinopathy, and enteropathy, x-linked MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodysregulation, polyendocrinopathy, and enteropathy, x-linked +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym islets of langerhans, absence of MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyendocrinopathy, immune dysfunction, and diarrhea, x-linked -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, polyendocrinopathy, and enteropathy, x-linked, formerly -MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym islets of langerhans, absence of +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodysregulation, polyendocrinopathy, and enteropathy, x-linked MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome skos:closeMatch Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304790 -MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndi +MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 MONDO:0010583 Dyggve-Melchior-Clausen syndrome, X-linked skos:closeMatch Orphanet:239 Dyggve-Melchior-Clausen disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304950 -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with pancytopenia +MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia -MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305000 -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eda1 +MONDO:0010584 dyskeratosis congenita, X-linked skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with pancytopenia MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, x-linked -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eda1 +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic, x-linked +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:181 X-linked hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1, hypohidrotic, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536197 MONDO:0010586 X-linked Ehlers-Danlos syndrome skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268341 @@ -15071,961 +15077,961 @@ MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:30539 MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fevr, x-linked MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch OMIM:305390 exudative vitreoretinopathy 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym evrx MONDO:0010588 exudative vitreoretinopathy 2, X-linked skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305390 -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia with attention deficit-hyperactivity disorder -MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305400 +MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 +MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia with attention deficit-hyperactivity disorder MONDO:0010589 Aarskog-Scott syndrome, X-linked skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label opitz-kaveggia syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keller syndrome -MONDO:0010590 FG syndrome 1 skos:closeMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 -MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220769 +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305450 +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum +MONDO:0010590 FG syndrome 1 skos:closeMatch Orphanet:93932 FG syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010590 FG syndrome 1 skos:closeMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fg syndrome type 1 MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010590 FG syndrome 1 skos:exactMatch NCIT:C171270 FG Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fg syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844560 +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fg syndrome +MONDO:0010590 FG syndrome 1 skos:closeMatch OMIM:305450 opitz-kaveggia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz-kaveggia syndrome MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305550 -MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fodh -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016395 -MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 +MONDO:0010591 fingerprint body myopathy skos:closeMatch Orphanet:97232 Fingerprint body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844560 MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 +MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305600 +MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016395 MONDO:0010592 focal dermal hypoplasia skos:closeMatch Orphanet:2092 Focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005489 +MONDO:0010592 focal dermal hypoplasia skos:closeMatch OMIM:305600 focal dermal hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fodh MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del castillo syndrome -MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinal cell aplasia -MONDO:0010595 Sertoli cell-only syndrome skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0010595 Sertoli cell-only syndrome skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0010595 Sertoli cell-only syndrome skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305800 MONDO:0010596 membranoproliferative glomerulonephritis, X-linked skos:closeMatch OMIM:305800 membranoproliferative glomerulonephritis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesangiocapillary glomerulonephritis, x-linked MONDO:0010597 glutamyl ribose-5-phosphate storage disease skos:closeMatch OMIM:305920 glutamyl ribose-5-phosphate storage disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adp-ribose protein hydrolase deficiency MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type 9a +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis type ixa -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 9a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixa semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder viii, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type 9a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306000 MONDO:0010598 glycogen storage disease IXa1 skos:closeMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd viii, formerly -MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixa +MONDO:0010598 glycogen storage disease IXa1 skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9a MONDO:0010600 granulomatous disease, chronic, X-linked skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306400 -MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia, classic -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal hemophilia a MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016080 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006467 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019069 MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal hemophilia a -MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:98878 Hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b(m) +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:177926 Bleeding disorder in hemophilia A carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169805 Moderate hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:306700 hemophilia a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia, classic +MONDO:0010602 hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306700 +MONDO:0010602 hemophilia A skos:closeMatch OMIM:134500 factor 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 8 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:177929 Bleeding disorder in hemophilia B carriers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016077 +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008533 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:98879 Hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002836 -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169799 Mild hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 9 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b leyden MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f9 deficiency -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma thromboplastin component deficiency -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden -MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169796 Moderate hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 9 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b(m) MONDO:0010604 hemophilia B skos:closeMatch Orphanet:169793 Severe hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306900 -MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophilia b leyden +MONDO:0010604 hemophilia B skos:closeMatch Orphanet:617930 Hemophilia B Leyden semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophilia b leyden +MONDO:0010604 hemophilia B skos:closeMatch OMIM:306900 hemophilia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma thromboplastin component deficiency MONDO:0010606 hernia, anterior diaphragmatic skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306950 -MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym situs inversus, complex cardiac defects, and splenic defects, x-linked MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dextrocardia with other cardiac malformations +MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch OMIM:306955 heterotaxy, visceral, 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laterality, x-linked MONDO:0010607 heterotaxy, visceral, 1, X-linked skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306955 MONDO:0010608 Hhhh syndrome skos:closeMatch OMIM:306960 hhhh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary hemihypotrophy hemiparesis hemiathetosis syndrome MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch OMIM:306990 microhydranencephaly, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with fetal akinesia/hypokinesia sequence MONDO:0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome skos:closeMatch Orphanet:2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306990 -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus due to congenital stenosis of aqueduct of sylvius -MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, x-linked +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius +MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:236635 hydrocephalus due to congenital stenosis of aqueduct of sylvius semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus due to congenital stenosis of aqueduct of sylvius MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch Orphanet:275543 L1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307000 MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius skos:closeMatch OMIM:307000 hydrocephalus, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aqueductal stenosis, x-linked -MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with cerebellar agenesis MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus with cerebellar agenesis +MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch OMIM:307010 hydrocephalus with cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus with cerebellar agenesis MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307010 MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome skos:closeMatch Orphanet:1397 Hydrocephaly-cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844005 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk deficiency -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk1 deficiency -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycerolemia -MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284411 Glycerol kinase deficiency, juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gk deficiency +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycerolemia MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycerolemia -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:408 Isolated glycerol kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 +MONDO:0010613 inborn glycerol kinase deficiency skos:closeMatch Orphanet:284414 Glycerol kinase deficiency, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307030 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcg +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq27.1 interchromosomal insertion syndrome MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgh +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538388 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:79495 X-linked congenital generalized hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307150 MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:145701 hypertrichosis universalis congenita, ambras iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized -MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, congenital generalized -MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia and isolated growth hormone deficiency, x-linked +MONDO:0010614 X-linked congenital generalized hypertrichosis skos:closeMatch OMIM:307150 hypertrichosis, congenital generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, congenital generalized MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia and isolated growth hormone deficiency, x-linked MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch OMIM:307200 isolated growth hormone deficiency, iia iii, with agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogammaglobulinemia and isolated growth hormone deficiency, x-linked MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 MONDO:0010615 isolated growth hormone deficiency type III skos:closeMatch Orphanet:231692 Isolated growth hormone deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307200 -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism, male, with mental retardation and skeletal anomalies -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, male, with mental retardation and skeletal anomalies MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307500 +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadism, male, with mental retardation and skeletal anomalies +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome skos:closeMatch OMIM:307500 hypogonadism, male, with mental retardation and skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypogonadism, male, with mental retardation and skeletal anomalies +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 +MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, x-linked MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoparathyroidism, x-linked MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parathyroid glands, agenesis of -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch OMIM:307700 hypoparathyroidism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoparathyroidism, x-linked -MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 MONDO:0010618 familial isolated hypoparathyroidism due to agenesis of parathyroid gland skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307700 +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypophosphatemic rickets, x-linked dominant +MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, x-linked MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic rickets, x-linked dominant -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemia, x-linked -MONDO:0010619 X-linked dominant hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307800 MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:307830 MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265267 MONDO:0010621 CHILD syndrome skos:closeMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308050 MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hemidysplasia with ichthyosiform erythroderma and limb defects -MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hemidysplasia with ichthyosiform erythroderma and limb defects -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid sulfatase deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0010621 CHILD syndrome skos:closeMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, x-linked, complicated MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, x-linked +MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid sulfatase deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym placental steroid sulfatase deficiency -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 -MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch Orphanet:281090 Syndromic recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308100 MONDO:0010622 recessive X-linked ichthyosis skos:closeMatch OMIM:308100 ichthyosis, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sts deficiency -MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rud syndrome MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruds +MONDO:0010623 ichthyosis and male hypogonadism skos:closeMatch OMIM:308200 ichthyosis and male hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rud syndrome MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein skos:closeMatch OMIM:308220 immunodeficiency, x-linked, with deficiency of 115,000 dalton surface glycoprotein semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gpl115 deficiency MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398689 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm immunodeficiency, x-linked MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch OMIM:308230 immunodeficiency with hyper-igm, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch NCIT:C61244 CD40 Ligand Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd40 ligand deficiency -MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 -MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperimmunoglobulin m syndrome MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068348 -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010626 hyper-IgM syndrome type 1 skos:exactMatch NCIT:C3990 Hyperimmunoglobulin M Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperimmunoglobulin m syndrome +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308230 +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch NCIT:C61244 CD40 Ligand Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd40 ligand deficiency +MONDO:0010626 hyper-IgM syndrome type 1 skos:closeMatch Orphanet:101088 X-linked hyper-IgM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398689 MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked lymphoproliferative syndrome type 1 -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549463 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021171 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym purtilo syndrome +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068348 +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch NCIT:C170434 X-linked Lymphoproliferative Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked lymphoproliferative syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308300 -MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021171 MONDO:0010631 incontinentia pigmenti skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007184 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ohtahara syndrome, x-linked +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym west syndrome, x-linked -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile epileptic-dyskinetic encephalopathy MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile spasm syndrome, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308350 -MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy -MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris hypoplasia with glaucoma +MONDO:0010632 developmental and epileptic encephalopathy, 1 skos:closeMatch Orphanet:364063 Infantile epileptic-dyskinetic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile epileptic-dyskinetic encephalopathy MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym iris hypoplasia with glaucoma +MONDO:0010633 iris hypoplasia with glaucoma skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym iris hypoplasia with glaucoma +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism and anosmia MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch NCIT:C75480 Kallmann Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anosmic hypogonadism -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism and anosmia -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308700 +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia skos:closeMatch NCIT:C75480 Kallmann Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kallmann syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010636 Kallmann syndrome with spastic paraplegia skos:closeMatch OMIM:308750 kallmann syndrome with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia-kallmann syndrome +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536159 -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsdx +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, x-linked MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans cum ophiasi MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, x-linked -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kfsdx -MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch OMIM:308800 keratosis follicularis spinulosa decalvans, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, x-linked -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536158 +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839910 MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch Orphanet:2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308830 -MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis, dwarfism, and cerebral atrophy MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis, dwarfism, and cerebral atrophy -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis +MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome skos:closeMatch OMIM:308830 keratosis follicularis, dwarfism, and cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis, dwarfism, and cerebral atrophy +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 -MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:308850 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord dysfunction, familial +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngeal abductor paralysis MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2808 Laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis -MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308905 +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch OMIM:150260 laryngeal abductor paralysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal abductor paralysis +MONDO:0010639 laryngeal abductor paralysis-intellectual disability syndrome skos:closeMatch Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308850 MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy, modifier of MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber hereditary optic neuropathy, modifier of MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch OMIM:308905 leber hereditary optic neuropathy, modifier of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lhon, modifier of +MONDO:0010640 Leber optic atrophy, susceptibility to skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308905 MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome and diffuse leiomyomatosis MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dl-ats -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyomatosis, diffuse, with alport syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, diffuse, with alport syndrome -MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophageal and vulval, with nephropathy MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome xq22.3 centromeric deletion syndrome +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leiomyomatosis, diffuse, with alport syndrome +MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch OMIM:308940 leiomyomatosis, diffuse, with alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leiomyomatosis, esophageal and vulval, with nephropathy MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome skos:closeMatch Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308940 MONDO:0010642 Lesch-Nyhan phenotype with normal HGPRT skos:closeMatch Orphanet:510 Lesch-Nyhan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308950 MONDO:0010643 acute leukemia skos:closeMatch OMIM:308960 leukemia, acute, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute, x-linked MONDO:0010643 acute leukemia skos:closeMatch OMIM:308960 leukemia, acute, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute, x-linked -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 -MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028860 +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c545036 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309000 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009800 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylinositol type 4,5-bisphosphate type 5-phosphatase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028860 MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051707 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:534 Oculocerebrorenal syndrome of Lowe semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309000 -MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphatidylinositol type 4,5-bisphosphate type 5-phosphatase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:300535 OCRL semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch OMIM:309000 lowe oculocerebrorenal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 MONDO:0010647 spermatogenic failure, X-linked, 2 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309120 -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive psychosis, x-linked MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym manic-depressive illness -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010648 major affective disorder 2 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgcn MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea -MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:309300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalocornea -MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309300 MONDO:0010649 isolated congenital megalocornea skos:closeMatch OMIM:249300 megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalocornea -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome +MONDO:0010649 isolated congenital megalocornea skos:closeMatch Orphanet:91489 Isolated congenital megalocornea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309300 MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309350 MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025237 MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060908 -MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melnick-needles syndrome +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome MONDO:0010650 Melnick-Needles syndrome skos:closeMatch OMIM:309350 melnick-needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysplasty of melnick and needles -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 -MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027294 +MONDO:0010650 Melnick-Needles syndrome skos:closeMatch Orphanet:2484 Melnick-Needles syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melnick-needles syndrome MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022716 -MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309480 +MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027294 +MONDO:0010651 Menkes disease skos:closeMatch Orphanet:565 Menkes disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309400 MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch OMIM:309480 mental retardation and psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation and psoriasis +MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch Orphanet:3052 X-linked intellectual disability-seizures-psoriasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309480 MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome skos:closeMatch OMIM:309480 mental retardation and psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation and psoriasis MONDO:0010653 Renpenning syndrome skos:closeMatch Orphanet:3242 Renpenning syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309500 +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with spastic diplegia MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010653 Renpenning syndrome skos:closeMatch OMIM:309500 renpenning syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renpenning syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prts MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dystonic movements, ataxia, and seizures MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington x-linked mental retardation syndrome -MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partington syndrome -MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partington syndrome +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010654 Partington syndrome skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prts MONDO:0010654 Partington syndrome skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309510 -MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lujan-fryns syndrome +MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partington syndrome +MONDO:0010654 Partington syndrome skos:exactMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partington syndrome MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 +MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch Orphanet:776 Lujan-Fryns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lujan-fryns syndrome MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryns iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lujan-fryns syndrome MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309541 MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX skos:closeMatch OMIM:309541 methylmalonic aciduria and homocystinuria, cblx iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309545 MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs12 +MONDO:0010658 syndromic X-linked intellectual disability 12 skos:closeMatch Orphanet:85290 X-linked intellectual disability, Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309545 +MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, associated with fragile site fraxe MONDO:0010659 FRAXE intellectual disability skos:closeMatch OMIM:309548 intellectual developmental disorder, X-linked 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraxe mental retardation syndrome -MONDO:0010659 FRAXE intellectual disability skos:closeMatch Orphanet:100973 FRAXE intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 -MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch OMIM:309549 intellectual developmental disorder, X-linked 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gustavson syndrome +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, deafness, and seizures MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, deafness, and seizures -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795965 MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 -MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, deafness, and seizures -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745996 -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309560 -MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch Orphanet:3078 Severe X-linked intellectual disability, Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795965 +MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch OMIM:309555 mental retardation with optic atrophy, deafness, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gustavson syndrome MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia and palmoplantar hyperkeratosis -MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym juberg-marsidi syndrome +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch OMIM:309560 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia and palmoplantar hyperkeratosis +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309560 +MONDO:0010662 paraplegia-intellectual disability-hyperkeratosis syndrome skos:closeMatch Orphanet:2824 Paraplegia-intellectual disability-hyperkeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2745996 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with growth retardation, deafness, and microgenitalism +MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner iia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym juberg-marsidi syndrome MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309580 MONDO:0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 skos:closeMatch OMIM:309580 intellectual disability-hypotonic facies syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation-hypotonic facies syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796160 -MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxssr MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked intellectual disability, snyder type +MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch OMIM:309583 intellectual developmental disorder, x-linked, syndromic, snyder-robinson iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxssr MONDO:0010664 syndromic X-linked intellectual disability Snyder type skos:closeMatch Orphanet:3063 X-linked intellectual disability, Snyder type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309583 MONDO:0010665 Wilson-Turner syndrome skos:closeMatch OMIM:309585 intellectual developmental disorder, x-linked, syndromic, wilson-turner iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilson-turner x-linked mental retardation syndrome MONDO:0010665 Wilson-Turner syndrome skos:closeMatch Orphanet:3459 Wilson-Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309585 -MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309610 -MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prs MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prieto x-linked mental retardation syndrome +MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010667 Prieto syndrome skos:closeMatch Orphanet:2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309610 MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with dysmorphism and cerebral atrophy -MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked skeletal dysplasia-intellectual disability syndrome +MONDO:0010667 Prieto syndrome skos:closeMatch OMIM:309610 prieto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prs MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309620 +MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch Orphanet:1436 X-linked skeletal dysplasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked skeletal dysplasia-intellectual disability syndrome MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, skeletal dysplasia, and abducens palsy MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, skeletal dysplasia, and abducens palsy MONDO:0010668 skeletal dysplasia-intellectual disability syndrome skos:closeMatch OMIM:309620 mental retardation, skeletal dysplasia, and abducens palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrsd -MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309630 -MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia +MONDO:0010669 syndactyly type 8 skos:closeMatch Orphanet:2498 Syndactyly type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839728 +MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010669 syndactyly type 8 skos:closeMatch OMIM:309630 metacarpal 4-5 fusion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metacarpal type 4-5 fusion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with spastic paraplegia -MONDO:0010671 microphthalmia, syndromic 1 skos:narrowMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym syndromic microphthalmia type 4 semapv:RegularExpressionReplacement +MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome skos:closeMatch OMIM:309640 mental retardation with spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with spastic paraplegia MONDO:0010671 microphthalmia, syndromic 1 skos:closeMatch Orphanet:568 Microphthalmia, Lenz type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309800 +MONDO:0010671 microphthalmia, syndromic 1 skos:narrowMatch DOID:0111799 syndromic microphthalmia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym syndromic microphthalmia type 4 semapv:RegularExpressionReplacement MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement +MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym midas syndrome MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010672 linear skin defects with multiple congenital anomalies skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010672 linear skin defects with multiple congenital anomalies skos:exactMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label linear skin defects with multiple congenital anomalies type 1 semapv:RegularExpressionReplacement MONDO:0010673 modifier, X-linked, for Neurofunctional defects skos:closeMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tourette syndrome, modifier of -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026705 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056889 -MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:217085 Mucopolysaccharidosis type 2, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309900 +MONDO:0010674 mucopolysaccharidosis type 2 skos:closeMatch Orphanet:580 Mucopolysaccharidosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016532 MONDO:0010678 muscular dystrophy, progressive Pectorodorsal skos:closeMatch OMIM:310095 muscular dystrophy, progressive pectorodorsal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, progressive, involving shoulder girdle and back -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013801 -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 -MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310200 MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020388 +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310200 +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013264 +MONDO:0010679 Duchenne muscular dystrophy skos:closeMatch Orphanet:98896 Duchenne muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013801 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, x-linked, formerly -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751337 -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch NCIT:C168730 Emery-Dreifuss Muscular Dystrophy 1, X-Linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310300 +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751337 +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloperoneal syndrome, x-linked, formerly MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym humeroperoneal neuromuscular disorder, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy skos:closeMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010681 myelolymphatic insufficiency skos:closeMatch OMIM:310350 myelolymphatic insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelger-like anomaly with leukopenia and susceptibility to infections MONDO:0010682 myoclonic epilepsy, progressive, X-linked skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310370 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410203 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, x-linked MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, x-linked -MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, x-linked MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, x-linked +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch OMIM:310400 myopathy, centronuclear, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410203 +MONDO:0010683 X-linked centronuclear myopathy skos:closeMatch Orphanet:596 X-linked centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310400 +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with excessive autophagy +MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with excessive autophagy MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310440 MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839615 MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch Orphanet:25980 X-linked myopathy with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931230 -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, x-linked, with excessive autophagy -MONDO:0010684 X-linked myopathy with excessive autophagy skos:closeMatch OMIM:310440 myopathy, x-linked, with excessive autophagy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, x-linked, with excessive autophagy -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 +MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310465 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936859 -MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310465 +MONDO:0010686 N syndrome skos:closeMatch Orphanet:2608 N syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536108 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010688 hereditary sensory neuropathy X-linked skos:closeMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory, x-linked MONDO:0010688 hereditary sensory neuropathy X-linked skos:closeMatch OMIM:310470 neuropathy, hereditary sensory, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, x-linked -MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, axonal motor-sensory, with deafness and mental retardation MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch Orphanet:101078 X-linked Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310490 +MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 skos:closeMatch OMIM:310490 charcot-marie-tooth disease, X-linked recessive, 4, with or without cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, axonal motor-sensory, with deafness and mental retardation MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, with myopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nyctalopia MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch OMIM:310500 night blindness, congenital stationary, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, x-linked MONDO:0010690 congenital stationary night blindness 1A skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310500 +MONDO:0010691 Norrie disease skos:closeMatch NCIT:C118634 Norrie Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label norrie syndrome +MONDO:0010691 Norrie disease skos:closeMatch OMIM:310600 norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nd MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069760 +MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537849 -MONDO:0010691 Norrie disease skos:closeMatch Orphanet:649 Norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310600 -MONDO:0010691 Norrie disease skos:closeMatch OMIM:310600 norrie disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nd -MONDO:0010691 Norrie disease skos:closeMatch NCIT:C118634 Norrie Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label norrie syndrome MONDO:0010692 nuclear ribonucleic acid skos:closeMatch OMIM:310650 nuclear ribonucleic acid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nrna +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile idiopathic, formerly MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlpan MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, congenital motor, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile idiopathic, formerly MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus, infantile periodic alternating, x-linked +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, congenital, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlpan MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch OMIM:310700 nystagmus 1, congenital, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 1, infantile, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010696 omphalocele, X-linked skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310980 MONDO:0010697 ophthalmoplegia, external, and myopia skos:closeMatch OMIM:311000 ophthalmoplegia, external, and myopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia-ophthalmoplegia syndrome -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311050 -MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839576 MONDO:0010698 optic atrophy 2 skos:closeMatch OMIM:311050 optic atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, x-linked MONDO:0010698 optic atrophy 2 skos:closeMatch OMIM:311050 optic atrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy, non-leber type, with early onset +MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839576 +MONDO:0010698 optic atrophy 2 skos:closeMatch Orphanet:98890 Early-onset X-linked optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311050 MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311070 MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 skos:closeMatch Orphanet:99014 X-linked Charcot-Marie-Tooth disease type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839566 -MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311200 MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1510460 +MONDO:0010702 orofaciodigital syndrome I skos:closeMatch Orphanet:2750 Orofaciodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311200 +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268542 -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052450 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311250 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 -MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020163 +MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch Orphanet:664 Ornithine transcarbamylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052450 MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ornithine transcarbamylase deficiency, hyperammonemia due to MONDO:0010703 ornithine carbamoyltransferase deficiency skos:closeMatch OMIM:311250 ornithine transcarbamylase deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithine transcarbamylase deficiency, hyperammonemia due to MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch Orphanet:90650 Otopalatodigital syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311300 MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontootopalatodigital osteodysplasia MONDO:0010704 otopalatodigital syndrome type 1 skos:closeMatch OMIM:311300 otopalatodigital syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otopalatodigital spectrum disorder -MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof1 -MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure, x-linked +MONDO:0010706 premature ovarian failure 1 skos:closeMatch Orphanet:908 Fragile X syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypergonadotropic ovarian failure, x-linked +MONDO:0010706 premature ovarian failure 1 skos:closeMatch OMIM:311360 premature ovarian failure 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof1 MONDO:0010707 Paine syndrome skos:closeMatch OMIM:311400 paine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly with spastic diplegia MONDO:0010707 Paine syndrome skos:closeMatch OMIM:311400 paine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seemanova syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796110 -MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 -MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister w syndrome MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pallister w syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglion disorder with mental retardation -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with mental retardation +MONDO:0010708 Pallister-W syndrome skos:closeMatch OMIM:311450 pallister w syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister w syndrome +MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311450 +MONDO:0010708 Pallister-W syndrome skos:closeMatch Orphanet:2804 W syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796110 MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311510 +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796195 +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wsn MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waisman syndrome MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome -MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796195 -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin sequence with facial and digital anomalies -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence with facial and digital anomalies -MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311895 +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with mental retardation +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglion disorder with mental retardation +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:exactMatch NCIT:C184991 Waisman Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label waisman syndrome +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome skos:closeMatch OMIM:311510 waisman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label waisman syndrome MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931064 +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch Orphanet:2888 Pierre Robin syndrome-faciodigital anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311895 +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin sequence with facial and digital anomalies +MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome skos:closeMatch OMIM:311895 pierre robin sequence with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierre robin sequence with facial and digital anomalies +MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with congenital heart malformation and clubfoot +MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839463 +MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311900 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536942 -MONDO:0010711 TARP syndrome skos:closeMatch Orphanet:2886 TARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311900 -MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with congenital heart malformation and clubfoot -MONDO:0010711 TARP syndrome skos:closeMatch OMIM:311900 tarp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch OMIM:312000 panhypopituitarism, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary dwarfism iv, formerly MONDO:0010712 panhypopituitarism, X-linked skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312000 -MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312060 MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym properdin p factor deficiency MONDO:0010713 properdin deficiency, X-linked skos:closeMatch OMIM:312060 properdin deficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor properdin deficiency +MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312060 MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 MONDO:0010713 properdin deficiency, X-linked skos:closeMatch Orphanet:2966 Properdin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537241 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205711 -MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067610 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205711 +MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020371 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280210 Pelizaeus-Merzbacher disease, connatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:280234 Null syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch OMIM:312080 pelizaeus-merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010714 Pelizaeus-Merzbacher disease skos:closeMatch Orphanet:702 Pelizaeus-Merzbacher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312080 MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch Orphanet:79447 X-linked lethal multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312150 MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple pterygium syndrome, x-linked -MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, x-linked MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome, multiple, x-linked -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-alpha deficiency +MONDO:0010716 X-linked lethal multiple pterygium syndrome skos:closeMatch OMIM:312150 multiple pterygium syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple pterygium syndrome, x-linked +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with pyruvate dehydrogenase deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with abnormal pyruvate metabolism -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdh deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia, thiamine-responsive -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, intermittent, with pyruvate dehydrogenase deficiency +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdh deficiency +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-alpha deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-alpha deficiency MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia with lactic acidosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312170 +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia and anogenital anomalies MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radial aplasia, x-linked +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312190 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia, x-linked MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch OMIM:312190 radial aplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radial aplasia and anogenital anomalies -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312190 -MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535281 +MONDO:0010718 absent radius-anogenital anomalies syndrome skos:closeMatch Orphanet:3016 Absent radius-anogenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839410 MONDO:0010719 radiation sensitivity of natural killer activity skos:closeMatch OMIM:312210 radiation sensitivity of natural killer activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-ray nk sensitivity MONDO:0010720 partial androgen insensitivity syndrome skos:closeMatch Orphanet:90797 Partial androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312300 -MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dysplasia, primary MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dysplasia, primary +MONDO:0010722 X-linked retinal dysplasia skos:closeMatch OMIM:312550 retinal dysplasia, primary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dysplasia, primary MONDO:0010722 X-linked retinal dysplasia skos:closeMatch Orphanet:1852 X-linked retinal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312550 MONDO:0010723 retinitis pigmentosa 2 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312600 -MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010725 X-linked retinoschisis skos:closeMatch OMIM:312700 retinoschisis 1, x-linked, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis type 1, x-linked, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010725 X-linked retinoschisis skos:closeMatch Orphanet:792 X-linked retinoschisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312700 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 -MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039000 -MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, atypical MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, preserved speech variant +MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, zappella variant MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, dementia, ataxia, and loss of purposeful hand use +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035372 +MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015518 +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039000 MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rts -MONDO:0010726 Rett syndrome skos:closeMatch OMIM:312750 rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rett syndrome, zappella variant +MONDO:0010726 Rett syndrome skos:closeMatch Orphanet:778 Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312750 +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:94083 Partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym russell-silver-like syndrome with skin pigmentation +MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:309510 partington syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partington syndrome -MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch OMIM:312780 russell-silver syndrome, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partington syndrome MONDO:0010727 Russell-silver syndrome, X-linked skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312780 -MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312830 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839321 +MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312830 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 MONDO:0010728 SCARF syndrome skos:closeMatch Orphanet:3134 SCARF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536625 MONDO:0010728 SCARF syndrome skos:closeMatch OMIM:312830 scarf syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312840 -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke x-linked mental retardation syndrome -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 -MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis with mental retardation, x-linked +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schimke x-linked mental retardation syndrome +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536630 +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312840 MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch Orphanet:85285 X-linked intellectual disability, Schimke type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839320 -MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010729 X-linked intellectual disability, Schimke type skos:closeMatch OMIM:312840 schimke X-linked mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schimke x-linked mental retardation syndrome MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xcid -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0010730 combined immunodeficiency, X-linked skos:closeMatch OMIM:312863 combined immunodeficiency, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537340 +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis and deafness +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs +MONDO:0010731 Simpson-Golabi-Behmel syndrome skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraparesis and deafness MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch Orphanet:2815 Spastic paraparesis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931291 -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sppx2 -MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2 semapv:RegularExpressionReplacement +MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch OMIM:312910 spastic paraparesis and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis and deafness MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312920 +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2 semapv:RegularExpressionReplacement MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch Orphanet:99015 Spastic paraplegia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839264 +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sppx2 +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010733 hereditary spastic paraplegia 2 skos:closeMatch OMIM:312920 spastic paraplegia 2, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 2, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010734 spatial visualization, aptitude for skos:closeMatch OMIM:313000 spatial visualization, aptitude for semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turner syndrome-associated neurocognitive phenotype MONDO:0010734 spatial visualization, aptitude for skos:closeMatch OMIM:313000 spatial visualization, aptitude for semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visuospatial/perceptual abilities -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kennedy spinal and bulbar muscular atrophy -MONDO:0010735 Kennedy disease skos:closeMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal neuronopathy, x-linked recessive -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal muscular atrophy, x-linked -MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068600 +MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839259 MONDO:0010735 Kennedy disease skos:closeMatch Orphanet:481 Kennedy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313200 -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/split-foot anomaly, x-linked +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbospinal muscular atrophy, x-linked +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kennedy spinal and bulbar muscular atrophy +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010735 Kennedy disease skos:closeMatch NCIT:C85233 Spinal and Bulbar Muscular Atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010735 Kennedy disease skos:closeMatch OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal and bulbar muscular atrophy, x-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010736 split hand-foot malformation 2 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313350 -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot deformity type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, late -MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed tarda, x-linked +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/split-foot anomaly, x-linked +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010736 split hand-foot malformation 2 skos:closeMatch OMIM:313350 split-hand/foot malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch Orphanet:93284 Spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313400 +MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed tarda, x-linked +MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked skos:closeMatch OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, late +MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, x-linked +MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, x-linked MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796172 MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch Orphanet:168544 Spondylometaphyseal dysplasia, Golden type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313420 -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, x-linked -MONDO:0010738 spondylometaphyseal dysplasia, Golden type skos:closeMatch OMIM:313420 spondylometaphyseal dysplasia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, x-linked -MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label taqi polymorphism MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taqi polymorphism -MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010739 Taqi polymorphism skos:closeMatch OMIM:313480 taqi polymorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label taqi polymorphism MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313500 +MONDO:0010741 tooth agenesis, selective, X-linked, 1 skos:closeMatch OMIM:313500 tooth agenesis, selective, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midline defects, x-linked -MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tas MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thoracoabdominal syndrome +MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tas MONDO:0010742 pentalogy of Cantrell skos:closeMatch OMIM:313850 thoracoabdominal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thoracoabdominal syndrome MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313850 MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058502 MONDO:0010742 pentalogy of Cantrell skos:closeMatch Orphanet:1335 Pentalogy of Cantrell semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0559483 +MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010743 thrombocytopenia 1 skos:closeMatch OMIM:313900 thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, x-linked, intermittent -MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 MONDO:0010743 thrombocytopenia 1 skos:closeMatch Orphanet:852 X-linked thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:313900 MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis -MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia with beta-thalassemia, x-linked MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytopenia with beta-thalassemia, x-linked +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch OMIM:314050 thrombocytopenia with beta-thalassemia, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia with beta-thalassemia, x-linked MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome skos:closeMatch Orphanet:231393 Beta-thalassemia-X-linked thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314050 -MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumbs syndrome -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, x-linked -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839130 +MONDO:0010746 thumbs, congenital Clasped skos:closeMatch OMIM:201550 adducted thumbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adducted thumbs syndrome MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314250 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314300 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839129 +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch Orphanet:53351 X-linked dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839130 +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 3, torsion, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010747 X-linked dystonia-parkinsonism skos:closeMatch OMIM:314250 dystonia 3, torsion, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, x-linked MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkcr syndrome +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkc MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goeminne syndrome +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839129 MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label torticollis, keloids, cryptorchidism, and renal dysplasia -MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tkc +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314300 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch Orphanet:3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536970 +MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome skos:closeMatch OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torticollis, keloids, cryptorchidism, and renal dysplasia MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trigonocephaly with short stature and developmental delay MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch OMIM:314320 trigonocephaly with short stature and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trigonocephaly with short stature and developmental delay MONDO:0010749 trigonocephaly-short stature-developmental delay syndrome skos:closeMatch Orphanet:3369 Trigonocephaly-short stature-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314320 -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with lobster-claw deformity of feet -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with lobster-claw deformity of feet -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 -MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314360 MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839123 MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536936 -MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314390 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch Orphanet:1122 Ulnar hypoplasia-split foot syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314360 +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar hypoplasia with lobster-claw deformity of feet +MONDO:0010750 ulnar hypoplasia-split foot syndrome skos:closeMatch OMIM:314360 ulnar hypoplasia with lobster-claw deformity of feet semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar hypoplasia with lobster-claw deformity of feet MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch OMIM:314390 vacterl association, x-linked, with or without hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacterl-h, x-linked -MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 +MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus skos:closeMatch Orphanet:3412 VACTERL with hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314390 MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:75497 X-linked Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 -MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796192 +MONDO:0010753 cardiac valvular dysplasia, X-linked skos:closeMatch Orphanet:555877 FLNA-related X-linked myxomatous valvular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314400 MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314500 +MONDO:0010754 van den Bosch syndrome skos:closeMatch Orphanet:3417 Van den Bosch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796192 MONDO:0010756 Von Willebrand disease, X-linked form skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314560 MONDO:0010757 widow's peak syndrome skos:closeMatch OMIM:314570 widow's peak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym widows peak, ptosis, and skeletal anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536703 -MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 +MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314580 MONDO:0010758 Wieacker-Wolff syndrome skos:closeMatch Orphanet:85283 X-linked intellectual disability, Miles-Carpenter type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537472 -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265239 -MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314600 +MONDO:0010758 Wieacker-Wolff syndrome skos:exactMatch OMIM:613274 MOCOS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcs MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069402 +MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:314600 +MONDO:0010759 Wildervanck syndrome skos:closeMatch Orphanet:3456 Wildervanck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265239 MONDO:0010761 retinitis pigmentosa Y-linked skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400004 -MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, y-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch Orphanet:391 Classic Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400021 +MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal skos:closeMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hodgkin disorder, y-linked pseudoautosomal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400042 MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypospermatogenesis MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym incomplete sertoli cell-only syndrome MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome, y-linked MONDO:0010763 spermatogenic failure, Y-linked, 1 skos:closeMatch NCIT:C166105 Hypospermatogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypospermatogenesis -MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936694 -MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018054 +MONDO:0010764 hearing loss, Y-linked 1 skos:closeMatch OMIM:400043 deafness, Y-linked 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, y-linked type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch OMIM:400044 46,xy sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex-reversing locus on x, formerly +MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018054 +MONDO:0010765 46,XY complete gonadal dysgenesis skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936694 MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligospermia, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligozoospermia, nonobstructive, y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic arrest, y-linked -MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azf regions MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia factor regions +MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azf regions MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:415000 MONDO:0010767 spermatogenic failure, Y-linked, 2 skos:closeMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym azoospermia, nonobstructive, y-linked -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonadoblastoma -MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma MONDO:0010768 gonadoblastoma skos:exactMatch Orphanet:206484 Gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadoblastoma +MONDO:0010768 gonadoblastoma skos:exactMatch OMIM:424500 gonadoblastoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gonadoblastoma MONDO:0010769 hairy ears, Y-linked skos:closeMatch OMIM:425500 hairy ears, Y-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis pinnae auris, y-linked MONDO:0010770 ubiquitin-activating enzyme, Y-linked skos:closeMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ube1y -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 -MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, oncocytic MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile xanthomatous MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile histiocytoid MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, infantile histiocytoid MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, focal lipid -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsden syndrome +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch OMIM:500000 cardiomyopathy, infantile histiocytoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, oncocytic +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500000 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535584 +MONDO:0010771 histiocytoid cardiomyopathy skos:closeMatch Orphanet:137675 Histiocytoid cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1708371 +MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial, with visual failure and striatal lucencies MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy with dystonia MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber hereditary optic neuropathy with dystonia -MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial, with visual failure and striatal lucencies +MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch OMIM:500001 leber optic atrophy and dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marsden syndrome MONDO:0010772 Leber optic atrophy and dystonia skos:closeMatch Orphanet:99718 Leber plus disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500001 -MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy with diabetes -MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy with diabetes -MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839028 MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500002 -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile, mitochondrial -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis, mitochondrial -MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 +MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch Orphanet:2596 Myopathy and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839028 +MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy with diabetes +MONDO:0010773 myopathy and diabetes mellitus skos:closeMatch OMIM:500002 mitochondrial myopathy with diabetes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy with diabetes MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 -MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch Orphanet:225154 Familial infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500003 +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile bilateral striatal necrosis, mitochondrial +MONDO:0010774 striatonigral degeneration, infantile, mitochondrial skos:closeMatch OMIM:500003 striatonigral degeneration, infantile, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal necrosis, infantile, mitochondrial MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 21, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:exactMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvs-plus +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 +MONDO:0010775 retinitis pigmentosa-deafness syndrome skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500004 MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome-plus +MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cvs-plus MONDO:0010778 cyclic vomiting syndrome skos:closeMatch OMIM:500007 cyclic vomiting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cyclic vomiting syndrome with neuromuscular disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural, mitochondrial -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nonsyndromic sensorineural, mitochondrial MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500008 -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mitochondrial non-syndromic neurosensory deafness -MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial neurosensory deafness +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mitochondrial non-syndromic neurosensory deafness MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mitochondrial non-syndromic sensorineural deafness -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency myopathy, infantile, transient +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial sensorineural deafness +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, nonsyndromic sensorineural, mitochondrial +MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss skos:closeMatch OMIM:500008 deafness, nonsyndromic sensorineural, mitochondrial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, nonsyndromic sensorineural, mitochondrial MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, infantile, transient -MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory chain deficiency, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch Orphanet:254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500009 +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cox deficiency myopathy, infantile, transient +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory chain deficiency, infantile, transient MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency +MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency skos:closeMatch OMIM:500009 mitochondrial myopathy, infantile, transient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, infantile, transient MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500011 MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, chloramphenicol-induced MONDO:0010784 chloramphenicol toxicity skos:closeMatch OMIM:515000 chloramphenicol toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chloramphenicol resistance -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520000 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ballinger-wallace syndrome +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niddm with deafness +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes and deafness, maternally inherited +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and deafness, maternally inherited MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus with deafness -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342289 MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520000 +MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342289 MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch Orphanet:225 Maternally-inherited diabetes and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536246 -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes and deafness, maternally inherited -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and deafness, maternally inherited -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niddm with deafness MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-deafness syndrome, maternally transmitted -MONDO:0010785 maternally-inherited diabetes and deafness skos:closeMatch OMIM:520000 diabetes and deafness, maternally inherited semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ballinger-wallace syndrome -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838912 -MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520100 MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea, chronic, with villous atrophy MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch OMIM:520100 diarrhea, chronic, with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, chronic, with villous atrophy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocraniosomatic syndrome +MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838912 +MONDO:0010786 chronic diarrhea with villous atrophy skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:520100 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia-plus syndrome +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with myopathy MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpeo with ragged-red fibers +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial cytopathy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022541 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic progressive external ophthalmoplegia with myopathy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia-plus syndrome -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, with ragged-red fibers -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculocraniosomatic syndrome MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048804 MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:530000 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022541 -MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial cytopathy +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch Orphanet:480 Kearns-Sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007625 +MONDO:0010787 Kearns-Sayre syndrome skos:closeMatch OMIM:530000 kearns-sayre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, with ragged-red fibers MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917796 MONDO:0010788 Leber hereditary optic neuropathy skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:535000 -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162671 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053872 -MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:540000 +MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162671 +MONDO:0010789 MELAS syndrome skos:closeMatch Orphanet:550 MELAS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017241 MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162672 -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 +MONDO:0010790 MERRF syndrome skos:closeMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 -MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:545000 MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017243 +MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers MONDO:0010790 MERRF syndrome skos:closeMatch OMIM:545000 myoclonic epilepsy associated with ragged-red fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy associated with ragged-red fibers -MONDO:0010790 MERRF syndrome skos:closeMatch NCIT:C84889 Myoclonic Epilepsy Associated with Ragged-Red Fibers semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy associated with ragged-red fibers -MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:545000 +MONDO:0010790 MERRF syndrome skos:closeMatch Orphanet:551 MERRF semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069825 MONDO:0010791 myoglobinuria, recurrent skos:closeMatch Orphanet:99845 Genetic recurrent myoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:550500 -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838876 -MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551000 MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy, lethal, infantile MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch OMIM:551000 mitochondrial myopathy, lethal, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy, lethal, infantile -MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328349 -MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, ataxia, and retinitis pigmentosa +MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551000 +MONDO:0010792 lethal infantile mitochondrial myopathy skos:closeMatch Orphanet:254857 Lethal infantile mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838876 MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:551500 MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062940 +MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, ataxia, and retinitis pigmentosa MONDO:0010794 NARP syndrome skos:closeMatch OMIM:551500 neuropathy, ataxia, and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, ataxia, and retinitis pigmentosa +MONDO:0010794 NARP syndrome skos:closeMatch Orphanet:644 NARP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328349 +MONDO:0010797 Pearson syndrome skos:closeMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342784 -MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062941 MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:557000 -MONDO:0010797 Pearson syndrome skos:closeMatch OMIM:557000 pearson marrow-pancreas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction +MONDO:0010797 Pearson syndrome skos:closeMatch Orphanet:699 Pearson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062941 MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubulopathy, diabetes mellitus, and cerebellar ataxia MONDO:0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome skos:closeMatch OMIM:560000 renal tubulopathy, diabetes mellitus, and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal tubulopathy, diabetes mellitus, and cerebellar ataxia MONDO:0010799 deafness, aminoglycoside-induced skos:closeMatch Orphanet:90641 Mitochondrial non-syndromic sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:580000 +MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:598500 MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym didmoad syndrome, mitochondrial form MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch OMIM:598500 wolfram syndrome, mitochondrial form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form -MONDO:0010800 Wolfram syndrome, mitochondrial form skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:598500 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600000 -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly with cervical platyspondyly -MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocamptodactyly MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocamptodactyly MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535779 -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart defects, congenital, and other congenital anomalies -MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart defects, congenital, and other congenital anomalies +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600000 +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch Orphanet:3180 Spondylocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838781 +MONDO:0010801 spondylocamptodactyly syndrome skos:closeMatch OMIM:600000 spondylocamptodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocamptodactyly MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heart defects, congenital, and other congenital anomalies MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis and congenital heart defects +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch OMIM:600001 heart defects, congenital, and other congenital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart defects, congenital, and other congenital anomalies MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome skos:closeMatch Orphanet:2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600001 -MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838779 MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600002 +MONDO:0010803 Eiken syndrome skos:closeMatch Orphanet:79106 Eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838779 MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone modeling defect of hands and feet MONDO:0010803 Eiken syndrome skos:closeMatch OMIM:600002 eiken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eiken skeletal dysplasia -MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 +MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exstrophy of bladder +MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bladder exstrophy and epispadias complex +MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bladder exstrophy and epispadias complex MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0005689 MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 -MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bladder exstrophy and epispadias complex -MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bladder exstrophy and epispadias complex -MONDO:0010805 bladder exstrophy skos:closeMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exstrophy of bladder +MONDO:0010805 bladder exstrophy skos:closeMatch Orphanet:93930 Bladder exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001746 MONDO:0010806 retinitis pigmentosa 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600059 -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement -MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600060 MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072077 +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement +MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 skos:closeMatch OMIM:600060 deafness, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch NCIT:C84711 Fatal Familial Insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insomnia, fatal familial MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600072 -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072077 MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206042 -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insomnia, fatal familial -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch OMIM:600072 fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch NCIT:C84711 Fatal Familial Insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia -MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal familial insomnia +MONDO:0010808 fatal familial insomnia skos:closeMatch Orphanet:466 Fatal familial insomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034062 MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelocytic leukemia-like syndrome, familial, chronic MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelocytic leukemia-like syndrome, familial, chronic MONDO:0010809 familial chronic myelocytic leukemia-like syndrome skos:closeMatch OMIM:600080 myelocytic leukemia-like syndrome, familial, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cml-like syndrome, familial +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudovitamin d3 deficiency rickets due to type 25-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxyvitamin d3 deficiency, selective -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch OMIM:600081 vitamin d hydroxylation-deficient rickets, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudovitamin d3 deficiency rickets due to type 25-hydroxylase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prostatic hyperplasia, benign MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostatic hyperplasia, benign -MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838654 +MONDO:0010811 benign prostatic hyperplasia skos:closeMatch OMIM:600082 prostatic hyperplasia, benign semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prostatic hyperplasia, benign MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600092 -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 -MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 +MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome skos:closeMatch Orphanet:1422 Chondrodysplasia-disorder of sex development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838654 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931142 +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600096 +MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch Orphanet:3010 Qazi-Markouizos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536259 MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label puerto rican infant hypotonia syndrome MONDO:0010816 Qazi Markouizos syndrome skos:closeMatch OMIM:600096 puerto rican infant hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym puerto rican infant hypotonia syndrome -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600101 +MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch OMIM:600101 deafness, autosomal dominant 2a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600101 +MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600105 +MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without pprpe MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without preserved paraarteriole retinal pigment epithelium MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch OMIM:600105 retinitis pigmentosa 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rp with or without pprpe -MONDO:0010818 retinitis pigmentosa 12 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600105 MONDO:0010819 Stargardt disease 3 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600110 MONDO:0010819 Stargardt disease 3 skos:closeMatch OMIM:600110 stargardt disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stargardt-like macular dystrophy, autosomal dominant -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, early-onset, with diurnal fluctuation -MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600116 +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, juvenile, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838630 -MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600117 -MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysphasia, familial developmental +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600116 +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 skos:closeMatch OMIM:600116 parkinson disease 2, autosomal recessive juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 2, autosomal recessive juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysphasia, familial developmental -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micro syndrome -MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 +MONDO:0010821 familial developmental dysphasia skos:closeMatch OMIM:600117 dysphasia, familial developmental semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysphasia, familial developmental +MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600117 +MONDO:0010821 familial developmental dysphasia skos:closeMatch Orphanet:1799 Familial developmental dysphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838630 MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label micro syndrome -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838612 -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600118 +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym micro syndrome +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010822 Warburg micro syndrome 1 skos:closeMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 -MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Disorder of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600122 +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600121 +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 skos:closeMatch Orphanet:309803 Rhizomelic chondrodysplasia punctata type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838612 MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch OMIM:600122 male pseudohermaphroditism/mental retardation syndrome, verloes iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes syndrome +MONDO:0010824 disorder of sex development-intellectual disability syndrome skos:closeMatch Orphanet:2983 Disorder of sex development-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600122 MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect with blepharophimosis and anal and radial defects MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect with blepharophimosis and anal and radial defects MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838606 MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome skos:closeMatch Orphanet:1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600123 -MONDO:0010826 childhood absence epilepsy skos:exactMatch NCIT:C128189 Childhood Absence Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy MONDO:0010826 childhood absence epilepsy skos:closeMatch NCIT:C50436 Petit Mal Seizure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label petit mal seizure +MONDO:0010826 childhood absence epilepsy skos:exactMatch NCIT:C128189 Childhood Absence Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood absence epilepsy MONDO:0010827 retinitis pigmentosa 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600132 MONDO:0010828 retinitis pigmentosa 11 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600138 -MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrovascular disorder with thin skin, alopecia, and disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical vascular encephalopathy, progressive +MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy -MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600142 +MONDO:0010829 CARASIL syndrome skos:closeMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical vascular encephalopathy, progressive MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838577 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 -MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010829 CARASIL syndrome skos:closeMatch Orphanet:199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600142 MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln8 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:228354 CLN8 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch OMIM:600143 ceroid lipofuscinosis, neuronal, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010830 neuronal ceroid lipofuscinosis 8 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600143 MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal regression syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral defect with anterior meningocele MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral defect with anterior meningocele -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal regression syndrome -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sirenomelia -MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 +MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C99054 Sacral Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600145 MONDO:0010831 familial caudal dysgenesis skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia MONDO:0010831 familial caudal dysgenesis skos:closeMatch NCIT:C118455 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sirenomelia -MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdam +MONDO:0010831 familial caudal dysgenesis skos:closeMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome MONDO:0010832 Bardet-Biedl syndrome 3 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600151 MONDO:0010833 Hirschsprung disease, susceptibility to, 2 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600155 MONDO:0010834 Hirschsprung disease, susceptibility to, 5 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600156 -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600159 -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838562 MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pterygium colli and mental retardation with facial and digital anomalies MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch OMIM:600159 pterygium colli and mental retardation with facial and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium colli and mental retardation with facial and digital anomalies -MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600159 +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome skos:closeMatch Orphanet:2988 Pterygium colli-intellectual disability-digital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838562 +MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, simple, autosomal dominant +MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal dominant MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos with high hyperopia and angle-closure glaucoma -MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010836 nanophthalmos 1 skos:closeMatch OMIM:600165 nanophthalmos 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmos, simple, autosomal dominant +MONDO:0010836 nanophthalmos 1 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600165 MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, congenital benign, with contractures MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch Orphanet:1216 Autosomal dominant congenital benign spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600175 MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy skos:closeMatch OMIM:600175 neuronopathy, distal hereditary motor, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, congenital nonprogressive -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation and seizures -MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation, seizures, and arachnoid cysts MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600176 MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch Orphanet:2798 Pachygyria-intellectual disability-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838491 -MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation, seizures, and arachnoid cysts +MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome skos:closeMatch OMIM:600176 pachygyria with impaired intellectual development, seizures, and arachnoid cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria with mental retardation and seizures MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous venous malformations -MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous malformations, multiple cutaneous and mucosal +MONDO:0010841 Waardenburg syndrome type 2B skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600193 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vmcm1 MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label venous malformations, multiple cutaneous and mucosal +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous venous malformations MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch Orphanet:2451 Mucocutaneous venous malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600195 +MONDO:0010842 multiple cutaneous and mucosal venous malformations skos:closeMatch OMIM:600195 venous malformations, multiple cutaneous and mucosal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym venous malformations, multiple cutaneous and mucosal MONDO:0010843 dyslexia, susceptibility to, 2 skos:closeMatch OMIM:600202 dyslexia, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reading disability, specific, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010844 epiphyseal dysplasia, multiple, 2 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600204 MONDO:0010846 exostoses, multiple, type III skos:closeMatch Orphanet:321 Multiple osteochondromas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600209 -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752122 MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600223 +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch Orphanet:98765 Spinocerebellar ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement +MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy -MONDO:0010847 spinocerebellar ataxia type 4 skos:closeMatch OMIM:600223 spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752123 MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600224 -MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch OMIM:600224 spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010848 spinocerebellar ataxia type 5 skos:closeMatch Orphanet:98766 Spinocerebellar ataxia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 5 semapv:RegularExpressionReplacement MONDO:0010849 palmoplantar keratoderma, Bothnian type skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600231 -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 -MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch Orphanet:141258 Tessier number 4 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600251 MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796020 +MONDO:0010850 Tessier number 4 facial cleft skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial clefting, oblique, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 -MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600252 MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537037 +MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796020 +MONDO:0010851 Lowry-MacLean syndrome skos:closeMatch Orphanet:2409 Lowry-MacLean syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600252 MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome skos:closeMatch OMIM:600257 chromosome 8q12.1-q21.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bor-duane hydrocephalus contiguous gene syndrome MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838329 MONDO:0010854 Toriello-Lacassie-Droste syndrome skos:closeMatch Orphanet:3339 Toriello-Lacassie-Droste syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600268 @@ -16036,648 +16042,648 @@ MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch O MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stale MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short tarsus with absence of lower eyelashes MONDO:0010855 short tarsus-absence of lower eyelashes syndrome skos:closeMatch OMIM:600269 short tarsus with absence of lower eyelashes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short tarsus with absence of lower eyelashes -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch OMIM:600273 polycystic kidney disease, infantile severe, with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838327 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch NCIT:C177539 Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder, infantile severe, with tuberous sclerosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600273 -MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis skos:closeMatch Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838327 -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilhelmsen-lynch disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with parkinsonism -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopontonigral degeneration -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobe dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with parkinsonism +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, frontotemporal, with parkinsonism +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilhelmsen-lynch disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftdp17 MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld with tau inclusions +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disinhibition-dementia-parkinsonism-amyotrophy complex MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tau inclusions MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pick complex -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobe dementia +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopontonigral degeneration MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia MONDO:0010857 semantic dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100069 Semantic dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, frontotemporal, with parkinsonism +MONDO:0010857 semantic dementia skos:closeMatch NCIT:C84719 Frontotemporal Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia MONDO:0010857 semantic dementia skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 -MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disinhibition-dementia-parkinsonism-amyotrophy complex +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia +MONDO:0010857 semantic dementia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600274 +MONDO:0010857 semantic dementia skos:closeMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch OMIM:600302 fryns macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with spastic paraplegia and distinctive craniofacial appearance -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838281 MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600302 +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome skos:closeMatch Orphanet:2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838281 MONDO:0010859 atrioventricular septal defect 3 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600309 -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement +MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch OMIM:600316 deafness, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 3 semapv:RegularExpressionReplacement MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600316 MONDO:0010861 type 1 diabetes mellitus 3 skos:closeMatch OMIM:600318 iia 1 diabetes mellitus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010862 type 1 diabetes mellitus 4 skos:closeMatch OMIM:600319 iia 1 diabetes mellitus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010863 type 1 diabetes mellitus 5 skos:closeMatch OMIM:600320 iia 1 diabetes mellitus 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010864 type 1 diabetes mellitus 7 skos:closeMatch OMIM:600321 iia 1 diabetes mellitus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminopterin syndrome sine aminopterin MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600325 -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795939 +MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aminopterin syndrome sine aminopterin MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch OMIM:600325 aminopterin syndrome sine aminopterin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aminopterin syndrome sine aminopterin -MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and infantile neuroaxonal dystrophy +MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch Orphanet:221120 Pseudoaminopterin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795939 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis and infantile neuroaxonal dystrophy +MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and infantile neuroaxonal dystrophy MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838258 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia skos:closeMatch Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600329 -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838256 -MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 +MONDO:0010867 PARC syndrome skos:closeMatch OMIM:600331 parc syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, alopecia, retrognathism, and cleft palate MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537174 -MONDO:0010867 PARC syndrome skos:closeMatch OMIM:600331 parc syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, alopecia, retrognathism, and cleft palate +MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600331 +MONDO:0010867 PARC syndrome skos:closeMatch Orphanet:2825 PARC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838256 MONDO:0010868 rippling muscle disease 1 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600332 -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial muscular dystrophy, tardive MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd -MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838244 MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600334 MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial muscular dystrophy, tardive +MONDO:0010870 tibial muscular dystrophy skos:closeMatch OMIM:600334 tibial muscular dystrophy, tardive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibial muscular dystrophy, tardive +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:420611 Transient myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tmd +MONDO:0010870 tibial muscular dystrophy skos:closeMatch Orphanet:609 Tibial muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1450052 MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:closeMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parotid salivary glands, polycystic dysgenetic disorder of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010872 parotid salivary glands, polycystic dysgenetic disease of skos:closeMatch OMIM:600343 parotid salivary glands, polycystic dysgenetic disease of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parotid salivary glands, polycystic dysgenetic disorder of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label band heterotopia MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym band heterotopia +MONDO:0010873 band heterotopia of brain skos:closeMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label band heterotopia MONDO:0010873 band heterotopia of brain skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600348 +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita of limbs, autosomal recessive +MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita of limbs, autosomal recessive MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600360 MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch Orphanet:1114 Aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536840 -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita of limbs, autosomal recessive -MONDO:0010876 recessive aplasia cutis congenita of limbs skos:closeMatch OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita of limbs, autosomal recessive MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroneal muscular atrophy with pyramidal features, autosomal dominant +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600361 +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder with pyramidal features, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant +MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroneal muscular atrophy with pyramidal features, autosomal dominant MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt with pyramidal features -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch Orphanet:64751 Hereditary motor and sensory neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600361 -MONDO:0010877 Charcot-Marie-Tooth disease type 5 skos:closeMatch OMIM:600361 hereditary motor and sensory neuropathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary motor and sensory neuropathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600363 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838192 -MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600363 +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial spastic paraplegia, autosomal dominant, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch OMIM:600363 spastic paraplegia 6, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 6, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010878 hereditary spastic paraplegia 6 skos:closeMatch Orphanet:100988 Autosomal dominant spastic paraplegia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536866 MONDO:0010879 CODAS syndrome skos:closeMatch OMIM:600373 codas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral, ocular, dental, auricular, and skeletal anomalies syndrome MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838180 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600373 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 MONDO:0010879 CODAS syndrome skos:closeMatch Orphanet:1458 CODAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536434 -MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600376 MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch OMIM:600376 telangiectasia, hereditary hemorrhagic, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related +MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600376 +MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, syndromic +MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838162 MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch Orphanet:2496 Mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600383 -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q13 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010881 mesomelia-synostoses syndrome skos:closeMatch OMIM:600383 mesomelia-synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, syndromic +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838161 MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch Orphanet:1113 Aphalangy-syndactyly-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600384 -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010882 aphalangy-syndactyly-microcephaly syndrome skos:closeMatch OMIM:600384 aphalangia, partial, with syndactyly and duplication of metatarsal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aphalangia, partial, with syndactyly and duplication of metatarsal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600399 -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931302 -MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pectus excavatum, macrocephaly, short stature, and dysplastic nails MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pectus excavatum, macrocephaly, short stature, and dysplastic nails +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch OMIM:600399 pectus excavatum, macrocephaly, short stature, and dysplastic nails semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pectus excavatum, macrocephaly, short stature, and dysplastic nails +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931302 +MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome skos:closeMatch Orphanet:2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600399 MONDO:0010884 muscular dystrophy, scapulohumeral skos:closeMatch Orphanet:269 Facioscapulohumeral dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600416 +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931817 +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600430 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-mental retardation syndrome -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600430 -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931817 MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch Orphanet:1001 2q37 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538317 -MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch OMIM:600430 chromosome 2q37 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010886 2q37 microdeletion syndrome skos:closeMatch NCIT:C129021 Chromosome 2q37 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 2q37 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838123 MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600457 -MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, anterior cervical +MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch Orphanet:3387 Isolated anterior cervical hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838123 MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrichosis, anterior cervical -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial dissection with lentiginosis -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arterial dissection with lentiginosis -MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600459 +MONDO:0010887 isolated anterior cervical hypertrichosis skos:closeMatch OMIM:600457 hypertrichosis, anterior cervical semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrichosis, anterior cervical MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838122 -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838121 +MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch Orphanet:1682 Arterial dissection-lentiginosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600459 +MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arterial dissection with lentiginosis +MONDO:0010889 arterial dissection-lentiginosis syndrome skos:closeMatch OMIM:600459 arterial dissection with lentiginosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial dissection with lentiginosis MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600460 -MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defect, genital anomalies, and ectrodactyly +MONDO:0010890 acrocardiofacial syndrome skos:closeMatch Orphanet:2008 Acrocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838121 MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, cardiac defect, genital anomalies, and ectrodactyly -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities -MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838120 +MONDO:0010890 acrocardiofacial syndrome skos:closeMatch OMIM:600460 cleft palate, cardiac defect, genital anomalies, and ectrodactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defect, genital anomalies, and ectrodactyly MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838120 +MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch OMIM:600461 hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities MONDO:0010891 lethal hemolytic anemia-genital anomalies syndrome skos:closeMatch Orphanet:1046 Lethal hemolytic anemia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600461 -MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600467 MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch OMIM:600467 malignant hyperthermia, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs4 +MONDO:0010893 malignant hyperthermia, susceptibility to, 4 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600467 MONDO:0010894 maturity-onset diabetes of the young type 3 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600496 MONDO:0010895 ABCD syndrome skos:closeMatch OMIM:600501 abcd syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness MONDO:0010896 pigment dispersion syndrome skos:closeMatch OMIM:600510 ocular pigment dispersion with or without glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma-related pigment dispersion syndrome MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 3 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010897 schizophrenia 3 skos:closeMatch OMIM:600511 schizophrenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant epilepsy with auditory features -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with auditory features MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, lateral temporal lobe, autosomal dominant +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838062 MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:exactMatch NCIT:C141441 Autosomal Dominant Lateral Temporal Lobe Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant lateral temporal lobe epilepsy -MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010898 Autosomal dominant epilepsy with auditory features skos:closeMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 1 semapv:RegularExpressionReplacement MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch OMIM:600513 epilepsy, nocturnal frontal lobe, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600513 -MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, endocardial fibroelastosis, and cataracts MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, endocardial fibroelastosis, and cataracts +MONDO:0010901 HEC syndrome skos:closeMatch OMIM:600559 hydrocephalus, endocardial fibroelastosis, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, endocardial fibroelastosis, and cataracts MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833607 MONDO:0010901 HEC syndrome skos:closeMatch Orphanet:2119 HEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600559 -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with atlantoaxial instability -MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with atlantoaxial instability MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833603 MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600561 -MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch OMIM:600624 cone-rod dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crd1 +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with atlantoaxial instability +MONDO:0010902 spondyloepiphyseal dysplasia, Reardon type skos:closeMatch OMIM:600561 spondyloepiphyseal dysplasia with atlantoaxial instability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia with atlantoaxial instability MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600624 +MONDO:0010905 cone-rod dystrophy 1 skos:closeMatch OMIM:600624 cone-rod dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crd1 MONDO:0010906 orofacial cleft 11 skos:closeMatch OMIM:600625 orofacial cleft 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, congenital healed MONDO:0010906 orofacial cleft 11 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600625 MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538393 MONDO:0010907 familial hypertryptophanemia skos:closeMatch OMIM:600627 hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertryptophanemia, familial -MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931837 -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 +MONDO:0010907 familial hypertryptophanemia skos:closeMatch Orphanet:2224 Hypertryptophanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600627 MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406468 -MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600628 +MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 +MONDO:0010908 loose anagen syndrome skos:closeMatch Orphanet:168 Loose anagen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058247 MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loose anagen hair syndrome MONDO:0010908 loose anagen syndrome skos:closeMatch OMIM:600628 loose anagen hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loose anagen hair syndrome MONDO:0010909 UV-sensitive syndrome 1 skos:closeMatch Orphanet:178338 UV-sensitive syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600630 MONDO:0010910 enuresis, nocturnal, 1 skos:closeMatch OMIM:600631 enuresis, nocturnal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bedwetting -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033375 -MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033375 MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036832 +MONDO:0010911 prolactin-producing pituitary gland adenoma skos:closeMatch Orphanet:2965 Prolactinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015175 MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch OMIM:600638 fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom3 locus -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162510 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600643 +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833541 -MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162510 MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016767 +MONDO:0010913 Caroli disease skos:closeMatch OMIM:600643 caroli disease, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caroli disorder, isolated semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010913 Caroli disease skos:closeMatch Orphanet:53035 Caroli disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013003 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, hepatocardiomuscular semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, hepatic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency with hypoketotic hypoglycemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, hepatocardiomuscular semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch OMIM:600649 carnitine palmitoyltransferase 2 deficiency, infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, infantile -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 -MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833511 MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600649 -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600652 -MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement +MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A skos:closeMatch OMIM:600652 deafness, autosomal dominant 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600666 -MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600668 MONDO:0010917 chondrocalcinosis 1 skos:closeMatch OMIM:600668 chondrocalcinosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrocalcinosis with early-onset osteoarthritis +MONDO:0010917 chondrocalcinosis 1 skos:closeMatch Orphanet:1416 Familial calcium pyrophosphate deposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600668 MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010918 epilepsy, idiopathic generalized, susceptibility to, 1 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label anotia MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 -MONDO:0010920 microtia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label anotia +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 +MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537772 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600674 -MONDO:0010920 microtia skos:closeMatch Orphanet:83463 Microtia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027555 +MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833473 +MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600679 MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermoid cysts, familial frontonasal MONDO:0010921 nasal dermoid cyst skos:closeMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermoid cysts, familial frontonasal -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600679 -MONDO:0010921 nasal dermoid cyst skos:closeMatch Orphanet:141103 Nasal dermoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833473 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600705 -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070579 MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833454 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600705 MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 MONDO:0010922 Satoyoshi syndrome skos:closeMatch OMIM:600705 satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities -MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070579 +MONDO:0010922 Satoyoshi syndrome skos:closeMatch Orphanet:3130 Satoyoshi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536616 MONDO:0010923 proximal myopathy with focal depletion of mitochondria skos:closeMatch Orphanet:521305 Proximal myopathy with focal depletion of mitochondria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600706 MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0010924 D-2-hydroxyglutaric aciduria skos:exactMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010924 D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:600721 d-2-hydroxyglutaric aciduria 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600736 -MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833380 MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch OMIM:600736 velofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velofacioskeletal syndrome MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch OMIM:600736 velofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velofacioskeletal syndrome -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 +MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833380 +MONDO:0010925 velo-facial-skeletal syndrome skos:closeMatch Orphanet:3424 Velo-facial-skeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600736 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 -MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833372 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 +MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537147 +MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:101050 Familial hypocalciuric hypercalcemia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833372 MONDO:0010926 familial hypocalciuric hypercalcemia 3 skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600740 -MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 +MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 MONDO:0010927 orofacial cleft 3 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600757 MONDO:0010929 craniosynostosis 4 skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600775 -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600776 -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 -MONDO:0010930 anophthalmia plus syndrome skos:closeMatch OMIM:600776 fryns microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-plus syndrome +MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600776 MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833339 +MONDO:0010930 anophthalmia plus syndrome skos:closeMatch OMIM:600776 fryns microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia-plus syndrome +MONDO:0010930 anophthalmia plus syndrome skos:closeMatch Orphanet:1104 Anophthalmia plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537767 MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch Orphanet:93160 Hypocalcemic vitamin D-resistant rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833321 MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600790 MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833321 -MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crapb MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535356 +MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch Orphanet:75373 Progressive bifocal chorioretinal atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crapb MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chorioretinal atrophy, progressive bifocal MONDO:0010932 progressive bifocal chorioretinal atrophy skos:closeMatch OMIM:600790 chorioretinal atrophy, progressive bifocal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chorioretinal atrophy, progressive bifocal -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dilated vestibular aqueduct +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600791 MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch NCIT:C158787 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 4, with enlarged vestibular aqueduct semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600791 +MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 skos:closeMatch OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dilated vestibular aqueduct MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 +MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600795 -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-negative -MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch OMIM:600802 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-positive, nk cell-negative semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-negative MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency skos:closeMatch Orphanet:35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600802 -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600803 -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068936 -MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609268 MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholelithiasis, low phospholipid-associated MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch OMIM:600803 gallbladder disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, diminished response to antileukotriene treatment type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, protection against -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, bronchial -MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, susceptibility to +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600803 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609268 +MONDO:0010939 low phospholipid associated cholelithiasis skos:closeMatch Orphanet:69663 Low phospholipid-associated cholelithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068936 MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma, susceptibility to -MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, susceptibility to +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, diminished response to antileukotriene treatment type 1n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, bronchial +MONDO:0010940 inherited susceptibility to asthma skos:closeMatch OMIM:600807 asthma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma, protection against MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010941 nocturnal enuresis, 2 skos:closeMatch OMIM:600808 enuresis, nocturnal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enuresis, nocturnal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010943 schizophrenia 4 skos:closeMatch OMIM:600850 schizophrenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q11-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010945 retinitis pigmentosa 17 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600852 MONDO:0010946 hypertrophic cardiomyopathy 6 skos:closeMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010946 hypertrophic cardiomyopathy 6 skos:closeMatch OMIM:600858 cardiomyopathy, familial hypertrophic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600880 +MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006537 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856761 MONDO:0010947 Budd-Chiari syndrome skos:closeMatch OMIM:600880 budd-chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous obstruction of inferior vena cava -MONDO:0010947 Budd-Chiari syndrome skos:closeMatch Orphanet:131 Budd-Chiari syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006502 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital zonular, with sutural opacities MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010948 cataract 10 multiple types skos:closeMatch OMIM:600881 cataract 10, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 10, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 -MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010948 cataract 10 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600881 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch OMIM:600882 charcot-marie-tooth disease, axonal, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833219 MONDO:0010949 Charcot-Marie-Tooth disease type 2B skos:closeMatch Orphanet:99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600882 MONDO:0010950 type 1 diabetes mellitus 8 skos:closeMatch OMIM:600883 iia 1 diabetes mellitus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600884 -MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010951 dilated cardiomyopathy 1B skos:closeMatch OMIM:600884 cardiomyopathy, dilated, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial dilated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833213 -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia, hereditary, with congenital cataracts -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia with or without cataract +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600886 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia-cataract syndrome MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperferritinemia with or without cataract -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538137 -MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch Orphanet:163 Hereditary hyperferritinemia-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600886 -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch NCIT:C125709 Fanconi Anemia, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e -MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600901 +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia, hereditary, with congenital cataracts +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts skos:closeMatch OMIM:600886 hyperferritinemia with or without cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperferritinemia with or without cataract MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C126364 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face +MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600901 +MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C13071 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch OMIM:600901 fanconi anemia, complementation group e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group e -MONDO:0010953 Fanconi anemia complementation group E skos:exactMatch NCIT:C13071 Face semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label face +MONDO:0010953 Fanconi anemia complementation group E skos:closeMatch NCIT:C125709 Fanconi Anemia, Complementation Group E semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group e MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600903 -MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome +MONDO:0010958 cardiac arrhythmia, ankyrin-B-related skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600919 MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marden-walker-like syndrome without psychomotor retardation -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600920 -MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van den ende-gupta syndrome MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis, arachnodactyly, and congenital contractures +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600920 MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833136 +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch Orphanet:2460 Van den Ende-Gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van den ende-gupta syndrome +MONDO:0010959 van den Ende-Gupta syndrome skos:closeMatch OMIM:600920 van den ende-gupta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van den ende-gupta syndrome MONDO:0010960 protocadherin 3 skos:closeMatch OMIM:600931 protocadherin 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcdh3 -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600955 MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity and endocrinopathy due to impaired processing of prohormones MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch Orphanet:71528 Obesity due to prohormone convertase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600955 -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant diffuse palmoplantar keratoderma, norrbotten type -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar keratoderma, bothnian type +MONDO:0010961 obesity due to prohormone convertase I deficiency skos:closeMatch OMIM:600955 proprotein convertase 1/3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proprotein convertase type 1/3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch NCIT:C3147 Tylosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tylosis -MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:530838 KRT1-related diffuse nonepidermolytic keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:144200 palmoplantar keratoderma, epidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tylosis +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diffuse palmoplantar keratoderma, bothnian type +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-epidermolytic palmoplantar keratoderma MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch OMIM:600962 palmoplantar keratoderma, nonepidermolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, nonepidermolytic palmoplantar +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:2337 Non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant diffuse palmoplantar keratoderma, norrbotten type MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement -MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch OMIM:600965 deafness, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600965 MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600969 MONDO:0010964 epiphyseal dysplasia, multiple, 3 skos:closeMatch OMIM:600969 epiphyseal dysplasia, multiple, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 3, with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch OMIM:600971 deafness, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 6 semapv:RegularExpressionReplacement MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600971 +MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:93298 Achondrogenesis type 1B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondrogenesis type 1b -MONDO:0010966 achondrogenesis type IB skos:closeMatch Orphanet:932 Achondrogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600972 -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600974 -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement -MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 skos:closeMatch OMIM:600974 deafness, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary congenital glaucoma -MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary congenital glaucoma MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600975 +MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary congenital glaucoma +MONDO:0010968 glaucoma 3, primary infantile, B skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary congenital glaucoma MONDO:0010969 cone-rod dystrophy 5 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600977 -MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpcmr MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation -MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infundibulopelvic dysgenesis +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies skos:closeMatch OMIM:600987 cleft palate, cardiac defects, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, cardiac defects, and mental retardation MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infundibulopelvic dysgenesis -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, sprengel anomaly, and costovertebral dysplasia -MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, sprengel anomaly, and costovertebral dysplasia +MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome skos:closeMatch OMIM:600989 infundibulopelvic dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infundibulopelvic dysgenesis MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch Orphanet:2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600991 +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, sprengel anomaly, and costovertebral dysplasia +MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome skos:closeMatch OMIM:600991 hydrocephalus, sprengel anomaly, and costovertebral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, sprengel anomaly, and costovertebral dysplasia MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600994 -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement +MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement +MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 skos:closeMatch OMIM:600994 deafness, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600995 MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive +MONDO:0010974 nephrotic syndrome, type 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600995 MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600996 MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601001 +MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 +MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832918 MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601003 -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010977 Brody myopathy skos:closeMatch OMIM:601003 brody disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brody disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010977 Brody myopathy skos:closeMatch Orphanet:53347 Brody myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536607 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 -MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832916 -MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832916 MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:601005 timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome with syndactyly MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 +MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536962 +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement +MONDO:0010979 Timothy syndrome skos:closeMatch OMIM:601005 timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome with syndactyly +MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement MONDO:0010979 Timothy syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601005 +MONDO:0010979 Timothy syndrome skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism skos:closeMatch OMIM:601016 midline malformations, multiple, with limb abnormalities and hypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dincsoy syndrome -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies -MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601027 -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832855 -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 -MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal dystonic choreathetosis with episodic ataxia and spasticity +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies +MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome skos:closeMatch OMIM:601027 tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies +MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, kinesigenic, with episodic ataxia and spasticity MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cse choreoathetosis, paroxysmal, with episodic ataxia MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis/spasticity, episodic -MONDO:0010983 dystonia 9 skos:closeMatch OMIM:601042 dystonia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, kinesigenic, with episodic ataxia and spasticity -MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 +MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal dystonic choreathetosis with episodic ataxia and spasticity +MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601042 +MONDO:0010983 dystonia 9 skos:closeMatch Orphanet:53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832855 MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 +MONDO:0010984 Usher syndrome type 1D skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601067 MONDO:0010984 Usher syndrome type 1D skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601068 MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic recessive +MONDO:0010985 epilepsy, familial adult myoclonic, 1 skos:closeMatch OMIM:601068 epilepsy, familial adult myoclonic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic recessive +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601071 +MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 skos:closeMatch OMIM:601071 deafness, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym auditory neuropathy, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym neurosensory nonsyndromic recessive deafness type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 8 semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch OMIM:601072 deafness, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, childhood-onset neurosensory, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601072 MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch Orphanet:1117 Aplasia cutis-myopia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601075 -MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, high myopia, and cone-rod dysfunction MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplasia cutis congenita, high myopia, and cone-rod dysfunction +MONDO:0010988 aplasia cutis-myopia syndrome skos:closeMatch OMIM:601075 aplasia cutis congenita, high myopia, and cone-rod dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, high myopia, and cone-rod dysfunction MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil deformity, conductive deafness, and absent vagina -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch Orphanet:2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 +MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch OMIM:601076 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies MONDO:0010991 laterality defects, autosomal dominant skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601086 -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aymé-gripp syndrome MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601088 +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aymé-gripp syndrome +MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ayme-gripp syndrome MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ayme-gripp syndrome -MONDO:0010992 Ayme-Gripp syndrome skos:closeMatch OMIM:601088 ayme-gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation MONDO:0010993 Harrod syndrome skos:closeMatch Orphanet:2115 Harrod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601095 -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270913 +MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch OMIM:601098 charcot-marie-tooth disease, demyelinating, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601098 -MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537984 +MONDO:0010995 Charcot-Marie-Tooth disease type 1C skos:closeMatch Orphanet:101083 Charcot-Marie-Tooth disease type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270913 MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601101 MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 MONDO:0010997 supranuclear palsy, progressive, 1 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601104 -MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832736 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601110 +MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch Orphanet:79321 ALG3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832736 MONDO:0010998 ALG3-congenital disorder of glycosylation skos:closeMatch OMIM:601110 congenital disorder of glycosylation, iia id semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg id -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832735 MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601127 -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fallot complex with severe mental and growth retardation +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch Orphanet:3304 Fallot complex-intellectual disability-growth delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832735 MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fallot complex with severe mental and growth retardation +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome skos:closeMatch OMIM:601127 fallot complex with severe mental and growth retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fallot complex with severe mental and growth retardation MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guanylate cyclase type 2e, pseudogene semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gc-e MONDO:0011000 guanylate cyclase 2E skos:closeMatch OMIM:601138 guanylate cyclase 2e, pseudogene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gucy2d, mouse, homolog of -MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome -MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome MONDO:0011001 Brugada syndrome 1 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601144 MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601152 +MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific +MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome +MONDO:0011001 Brugada syndrome 1 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 6a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601152 MONDO:0011003 dilated cardiomyopathy 1E skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601154 MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome skos:closeMatch Orphanet:86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601160 -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts with motor neuronopathy, short stature, and skeletal abnormalities +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 9a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601162 -MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux +MONDO:0011006 hereditary spastic paraplegia 9A skos:closeMatch OMIM:601162 spastic paraplegia 9a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts with motor neuronopathy, short stature, and skeletal abnormalities MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diaphragmatic defects, limb deficiencies, and ossification defects of skull -MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defects, limb deficiencies, and ossification defects of skull MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym froster syndrome +MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch OMIM:601163 diaphragmatic defects, limb deficiencies, and ossification defects of skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphragmatic defects, limb deficiencies, and ossification defects of skull MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome skos:closeMatch Orphanet:2141 Diaphragmatic defect-limb deficiency-skull defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601163 -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931750 MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601165 +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome skos:closeMatch OMIM:601165 cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia/microphthalmia and pulmonary hypoplasia +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary agenesis, microphthalmia, and diaphragmatic defect MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia/microphthalmia and pulmonary hypoplasia MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch OMIM:601186 microphthalmia, syndromic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary agenesis, microphthalmia, and diaphragmatic defect -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 -MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spear syndrome MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832661 -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gurrieri syndrome -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gurrieri syndrome -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796046 +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 +MONDO:0011010 Matthew-Wood syndrome skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601186 MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601187 +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch Orphanet:1858 Skeletal dysplasia-epilepsy-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796046 +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gurrieri syndrome +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome skos:closeMatch OMIM:601187 gurrieri syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gurrieri syndrome MONDO:0011012 African iron overload skos:closeMatch Orphanet:139507 African iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601195 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1, with bartter syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric hypocalcemia MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 -MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercalciuric hypocalcemia +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1, with bartter syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, familial -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601198 +MONDO:0011013 autosomal dominant hypocalcemia 1 skos:closeMatch OMIM:601198 hypocalcemia, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266144 -MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:64742 Pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537516 +MONDO:0011014 pleuropulmonary blastoma skos:closeMatch Orphanet:284343 DICER1 tumor-predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601200 MONDO:0011014 pleuropulmonary blastoma skos:closeMatch OMIM:601200 pleuropulmonary blastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppb familial tumor and dysplasia syndrome +MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 24, anterior polar semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 MONDO:0011015 cataract 24 skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 MONDO:0011015 cataract 24 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601202 -MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 24, anterior polar semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011015 cataract 24 skos:closeMatch OMIM:601202 cataract 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, anterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011016 type 1 diabetes mellitus 11 skos:closeMatch OMIM:601208 iia 1 diabetes mellitus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601214 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538346 -MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601214 -MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities +MONDO:0011017 Naxos disease skos:closeMatch Orphanet:34217 Naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832600 MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair -MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, palmoplantar keratoderma, and cardiac abnormalities MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris with arrhythmogenic cardiomyopathy +MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, palmoplantar keratoderma, and cardiac abnormalities +MONDO:0011017 Naxos disease skos:closeMatch OMIM:601214 naxos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch Orphanet:2899 Brachyolmia-amelogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601216 MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome skos:closeMatch OMIM:601216 dental anomalies and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tooth agenesis, selective, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch OMIM:601217 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome skos:closeMatch Orphanet:1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601217 -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis and oculocutaneous hypopigmentation syndrome -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis and oculocutaneous hypopigmentation syndrome -MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832592 +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch Orphanet:2786 Osteoporosis-oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601220 +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis and oculocutaneous hypopigmentation syndrome +MONDO:0011020 osteoporosis-oculocutaneous hypopigmentation syndrome skos:closeMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis and oculocutaneous hypopigmentation syndrome MONDO:0011021 neuronal intestinal dysplasia, type B skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601223 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601224 MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538356 -MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832588 MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym defect11 syndrome +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch OMIM:601224 potocki-shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proximal type 11p deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011022 Potocki-Shaffer syndrome skos:closeMatch Orphanet:52022 Potocki-Shaffer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832588 MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601230 -MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832585 MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601238 +MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832585 MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type MONDO:0011025 Cayman type cerebellar ataxia skos:closeMatch Orphanet:94122 Cerebellar ataxia, Cayman type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, cayman type -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601277 -MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 4a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011026 autosomal recessive congenital ichthyosis 4A skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601277 MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 skos:closeMatch OMIM:601283 iia 2 diabetes mellitus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601287 MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2f +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F skos:closeMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601287 MONDO:0011029 myeloid tumor suppressor skos:closeMatch OMIM:601308 myeloid tumor suppressor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloid leukemia-related locus MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of skos:closeMatch OMIM:601315 epithelial basolateral chloride conductance regulator, rabbit, homolog of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebcr -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601316 -MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 skos:closeMatch OMIM:601316 deafness, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement +MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement -MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch OMIM:601317 deafness, autosomal dominant 11 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 11 semapv:RegularExpressionReplacement MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601317 MONDO:0011033 type 1 diabetes mellitus 13 skos:closeMatch OMIM:601318 iia 1 diabetes mellitus 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 +MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832473 MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537741 -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832473 -MONDO:0011034 odontomicronychial dysplasia skos:closeMatch Orphanet:1811 Odontomicronychial dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601319 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan-neurofibromatosis syndrome -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis with noonan phenotype MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis with noonan phenotype +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch OMIM:601321 neurofibromatosis-noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan-neurofibromatosis syndrome +MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601321 MONDO:0011035 neurofibromatosis-Noonan syndrome skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537393 -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porencephaly, cerebellar hypoplasia, and internal malformations -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porencephaly, cerebellar hypoplasia, and internal malformations -MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601322 MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832472 -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss -MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch Orphanet:2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601322 +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porencephaly, cerebellar hypoplasia, and internal malformations +MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome skos:closeMatch OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porencephaly, cerebellar hypoplasia, and internal malformations MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535351 +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch OMIM:601338 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome skos:closeMatch Orphanet:1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601338 +MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym varioliform macular atrophy of the skin MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrophia maculosa varioliformis cutis, familial MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophia maculosa varioliformis cutis, familial -MONDO:0011039 atrophia maculosa varioliformis cutis, familial skos:closeMatch OMIM:601341 atrophia maculosa varioliformis cutis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym varioliform macular atrophy of the skin -MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601345 MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832444 +MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type skos:closeMatch Orphanet:69083 Ectodermal dysplasia with natal teeth, Turnpenny type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601345 MONDO:0011042 Martinez-Frias syndrome skos:closeMatch OMIM:601346 martinez-frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832440 -MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 +MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011045 MMEP syndrome skos:closeMatch OMIM:601349 microphthalmia, syndromic 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism -MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 +MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601349 +MONDO:0011045 MMEP syndrome skos:closeMatch Orphanet:3434 MMEP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832440 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832439 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 +MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537121 MONDO:0011046 short stature, Brussels type skos:closeMatch Orphanet:2867 Short stature, Brussels type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601350 MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch OMIM:601351 growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601351 MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome skos:closeMatch Orphanet:3218 Deafness-epiphyseal dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832438 +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601352 MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, epilepsy, and coarse face MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch OMIM:601352 mental retardation, microcephaly, epilepsy, and coarse face semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, epilepsy, and coarse face -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome skos:closeMatch Orphanet:1948 Epilepsy-microcephaly-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601352 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795941 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 MONDO:0011049 Fine-Lubinsky syndrome skos:closeMatch Orphanet:1272 Aymé-Gripp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537933 @@ -16689,882 +16695,882 @@ MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome skos:clo MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, forebrain defects, and facial clefts MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachial amelia, cleft lip, and holoprosencephaly MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma skos:closeMatch OMIM:601357 brachial amelia, cleft lip, and holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachial amelia, cleft lip, and holoprosencephaly -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1303073 +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sparse hair and mental retardation -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:601358 nicolaides-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch OMIM:251260 nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:647 Nijmegen breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nbs -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601358 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1303073 -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome skos:closeMatch Orphanet:3051 Nicolaides-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nicolaides-baraitser syndrome MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832432 MONDO:0011054 autosomal recessive amelia skos:closeMatch Orphanet:1027 Autosomal recessive amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601360 MONDO:0011054 autosomal recessive amelia skos:closeMatch OMIM:601360 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelia, autosomal recessive -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgs2 -MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601362 MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832431 +MONDO:0011055 distal monosomy 10p skos:closeMatch Orphanet:1580 Distal monosomy 10p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601362 +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgs2 +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011055 distal monosomy 10p skos:closeMatch OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digeorge syndrome/velocardiofacial syndrome complex type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011056 Wilms tumor 4 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601363 MONDO:0011056 Wilms tumor 4 skos:closeMatch OMIM:601363 wilms tumor 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial wilms tumor type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrovascular accident MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C3390 Stroke semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stroke MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebral infarction MONDO:0011057 cerebrovascular disorder skos:closeMatch NCIT:C50486 Cerebral Infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cerebral infarction -MONDO:0011057 cerebrovascular disorder skos:closeMatch OMIM:601367 stroke, ischemic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrovascular accident -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement -MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch OMIM:601369 deafness, autosomal dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 9 semapv:RegularExpressionReplacement MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601369 +MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601370 MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, semilobar, with craniosynostosis -MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch OMIM:601370 holoprosencephaly, semilobar, with craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly, semilobar, with craniosynostosis MONDO:0011059 holoprosencephaly-craniosynostosis syndrome skos:closeMatch Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832424 MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract, age-related nuclear MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nuclear sclerosis of the lens MONDO:0011060 early-onset non-syndromic cataract skos:closeMatch OMIM:601371 cataract, age-related nuclear semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related nuclear -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601374 MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832412 -MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly and cerebellar dysgenesis +MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch Orphanet:1126 Aprosencephaly cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601374 MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aprosencephaly and cerebellar dysgenesis -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 +MONDO:0011062 aprosencephaly cerebellar dysgenesis skos:closeMatch OMIM:601374 aprosencephaly and cerebellar dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aprosencephaly and cerebellar dysgenesis +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832411 MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601375 MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 -MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832411 +MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type skos:closeMatch Orphanet:1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536180 MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrodysplasia, lethal, with long bone angulation and mixed bone density MONDO:0011064 lethal chondrodysplasia, Seller type skos:closeMatch OMIM:601376 chondrodysplasia, lethal, with long bone angulation and mixed bone density semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodysplasia, lethal, with long bone angulation and mixed bone density -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832408 -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601379 -MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hunter-mcalpine craniosynostosis syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine syndrome +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hunter-mcalpine craniosynostosis syndrome +MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832408 MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch OMIM:601379 hunter-mcalpine craniosynostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hunter-mcalpine craniosynostosis syndrome MONDO:0011065 Hunter-McAlpine craniosynostosis skos:closeMatch Orphanet:97340 Hunter-McAlpine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536072 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601382 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832399 MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 skos:closeMatch Orphanet:99955 Charcot-Marie-Tooth disease type 4B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535420 -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement -MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement +MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch OMIM:601386 deafness, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601386 MONDO:0011068 type 1 diabetes mellitus 12 skos:closeMatch OMIM:601388 iia 1 diabetes mellitus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrofacioarticular syndrome -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601390 -MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrofacioarticular syndrome +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601390 MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011070 van Maldergem syndrome 1 skos:closeMatch OMIM:601390 van maldergem syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrofacioarticular syndrome MONDO:0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832388 MONDO:0011072 diabetes mellitus, noninsulin-dependent, 2 skos:closeMatch OMIM:601407 iia 2 diabetes mellitus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmtn -MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm1 MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm +MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch OMIM:601410 diabetes mellitus, transient neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm1 MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601410 MONDO:0011073 diabetes mellitus, transient neonatal, 1 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 -MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch OMIM:601412 deafness, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601412 MONDO:0011075 retinitis pigmentosa 18 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601414 -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1f and lgmd1d, formerly -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular cardiomyopathy type 7, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desminopathy, primary +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, desmin-related -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmd1f and lgmd1d, formerly +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832370 MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch Orphanet:98909 Desminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601419 +MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desmin-related myopathy MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect and muscular dystrophy -MONDO:0011076 myofibrillar myopathy 1 skos:closeMatch OMIM:601419 myopathy, myofibrillar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 1, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601427 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 +MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537694 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis skos:closeMatch Orphanet:2321 Jung syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832362 +MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601438 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832359 MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537609 -MONDO:0011079 rhizomelic dysplasia, Patterson-Lowry type skos:closeMatch Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601438 -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, progressive, with stapes fixation MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, progressive, with stapes fixation +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch OMIM:601449 deafness, progressive, with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, progressive, with stapes fixation +MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601449 MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832354 -MONDO:0011080 progressive deafness with stapes fixation skos:closeMatch Orphanet:3235 Progressive deafness with stapes fixation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844678 -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601450 -MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip, congenital dislocation of, with hyperextensibility of fingers and facial dysmorphism MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism +MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hip, congenital dislocation of, with hyperextensibility of fingers and facial dysmorphism +MONDO:0011081 dislocation of the hip-dysmorphism syndrome skos:closeMatch Orphanet:2412 Dislocation of the hip-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601450 +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal syndrome +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome +MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal dysplasia MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601452 MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832352 MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch Orphanet:398156 Oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal dysplasia -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculofrontonasal syndrome -MONDO:0011082 oculoauriculofrontonasal syndrome skos:closeMatch OMIM:601452 oculoauriculofrontonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauriculofrontonasal syndrome -MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 +MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodental dysplasia +MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406724 MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601453 MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 -MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichodental dysplasia -MONDO:0011083 trichodental syndrome skos:closeMatch OMIM:601453 trichodental dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichodental dysplasia +MONDO:0011083 trichodental syndrome skos:closeMatch Orphanet:3351 Trichodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536551 +MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 +MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601455 MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535716 -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601455 -MONDO:0011085 Charcot-Marie-Tooth disease type 4D skos:closeMatch Orphanet:99950 Charcot-Marie-Tooth disease type 4D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832334 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832322 -MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to complete rag1/2 deficiency MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601457 +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to complete rag1/2 deficiency MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive skos:closeMatch OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-negative, nk cell-positive +MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms iia, formerly MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 -MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms iia, formerly MONDO:0011088 congenital myasthenic syndrome 1A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601462 MONDO:0011089 patent ductus venosus skos:closeMatch OMIM:601466 patent ductus venosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym portosystemic venous shunt, congenital MONDO:0011090 isolated hereditary congenital facial paralysis skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral -MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601472 MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832274 +MONDO:0011091 Charcot-Marie-Tooth disease type 2D skos:closeMatch Orphanet:99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601472 MONDO:0011092 ribbing disease skos:closeMatch OMIM:601477 ribbing disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diaphyseal sclerosis, multiple MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyaluronidase deficiency -MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291490 MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyaluronidase deficiency +MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291490 MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch Orphanet:67041 Hyaluronidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601492 MONDO:0011093 mucopolysaccharidosis type 9 skos:closeMatch OMIM:601492 mucopolysaccharidosis, iia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1c, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch OMIM:601493 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 +MONDO:0011094 dilated cardiomyopathy 1C skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601493 MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601494 MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011095 dilated cardiomyopathy 1D skos:closeMatch OMIM:601494 cardiomyopathy, dilated, 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect MONDO:0011096 autosomal agammaglobulinemia skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832241 MONDO:0011097 Axenfeld-Rieger syndrome type 2 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601499 MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch OMIM:601518 prostate cancer, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prca1 MONDO:0011098 prostate cancer, hereditary, 1 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601518 -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosley-salih-alorainy syndrome -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832215 -MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 MONDO:0011099 human HOXA1 syndromes skos:closeMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosley-salih-alorainy syndrome +MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69737 Bosley-Salih-Alorainy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosley-salih-alorainy syndrome +MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601536 +MONDO:0011099 human HOXA1 syndromes skos:closeMatch Orphanet:69739 Athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832215 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy, autosomal neonatal MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (nald/ird) -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disorder) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile phytanic acid storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282527 +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601539 -MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenoleukodystrophy, autosomal neonatal -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement -MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011101 peroxisome biogenesis disorder 1B skos:closeMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disorder) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch OMIM:601543 deafness, autosomal dominant 12 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601543 -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement +MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch OMIM:601544 deafness, autosomal dominant 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601544 -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 3, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 +MONDO:0011104 cataract 3 multiple types skos:closeMatch OMIM:601547 cataract 3, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 3, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 +MONDO:0011104 cataract 3 multiple types skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601547 MONDO:0011105 alacrima, congenital, autosomal recessive skos:closeMatch Orphanet:91416 Isolated congenital alacrima semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601549 -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832167 -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601552 MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs -MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis with juvenile macular degeneration +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch OMIM:601552 facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832167 +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome skos:closeMatch Orphanet:412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601552 +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832162 MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601553 MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, congenital, with juvenile macular dystrophy MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch OMIM:601553 hypotrichosis, congenital, with juvenile macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis, congenital, with juvenile macular dystrophy -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832162 -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832112 +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy skos:closeMatch Orphanet:1573 Hypotrichosis with juvenile macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis with juvenile macular degeneration MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601560 -MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia with robin phenotype +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832112 +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia with robin phenotype +MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia with robin phenotype MONDO:0011109 multiple epiphyseal dysplasia, Lowry type skos:closeMatch OMIM:601560 multiple epiphyseal dysplasia with robin phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with robin phenotype -MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssegmental dysplasia with glaucoma MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dyssegmental dysplasia with glaucoma -MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601583 +MONDO:0011110 dyssegmental dysplasia-glaucoma syndrome skos:closeMatch OMIM:601561 dyssegmental dysplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyssegmental dysplasia with glaucoma MONDO:0011112 Wilms tumor 5 skos:closeMatch OMIM:601583 wilms tumor 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wilms tumor, susceptibility to +MONDO:0011112 Wilms tumor 5 skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601583 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535423 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866636 MONDO:0011113 Charcot-Marie-Tooth disease type 4C skos:closeMatch Orphanet:99949 Charcot-Marie-Tooth disease type 4C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601596 -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic -MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275122 +MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601612 +MONDO:0011114 familial multiple trichoepithelioma skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275122 MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung agenesis, congenital heart defects, and thumb anomalies syndrome -MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung agenesis, congenital heart defects, and thumb anomalies syndrome MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mardini-nyhan association +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch OMIM:601612 lung agenesis, congenital heart defects, and thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung agenesis, congenital heart defects, and thumb anomalies syndrome +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:1120 Lung agenesis-heart defect-thumb anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601612 +MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruffles and cysts of iris pigment epithelium MONDO:0011117 iris pigment epithelium anomalies skos:closeMatch OMIM:601616 iris pigment epithelium anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cysts of iris pigment epithelium -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, folate-sensitive MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ntd, folate-sensitive -MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:601634 neural tube defects, folate-sensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida, folate-sensitive +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601634 +MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to MONDO:0011120 neural tube defects, folate-sensitive skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to -MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601650 MONDO:0011121 paragangliomas 2 skos:closeMatch OMIM:601650 paragangliomas 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity +MONDO:0011121 paragangliomas 2 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601650 MONDO:0011122 obesity disorder skos:exactMatch OMIM:618406 body mass index quantitative trait locus 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity -MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obesity MONDO:0011122 obesity disorder skos:narrowMatch ICD10CM:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement +MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym obesity MONDO:0011122 obesity disorder skos:narrowMatch ICD10WHO:E66.8 Other obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym obesity semapv:RegularExpressionReplacement +MONDO:0011122 obesity disorder skos:exactMatch OMIM:601665 obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label obesity MONDO:0011123 type 1 diabetes mellitus 15 skos:closeMatch OMIM:601666 iia 1 diabetes mellitus 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with abnormal dentition +MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with abnormal dentition MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866507 MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601668 -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with abnormal dentition -MONDO:0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome skos:closeMatch OMIM:601668 spondyloepimetaphyseal dysplasia with abnormal dentition semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with abnormal dentition MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tay syndrome +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with hair abnormality and mental and growth retardation +MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, photosensitive MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy with congenital ichthyosis -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601675 -MONDO:0011125 trichothiodystrophy 1, photosensitive skos:closeMatch OMIM:601675 trichothiodystrophy 1, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosiform erythroderma with hair abnormality and mental and growth retardation MONDO:0011126 acute insulin response skos:closeMatch NCIT:C73434 Air semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label air MONDO:0011126 acute insulin response skos:closeMatch OMIM:601676 acute insulin response semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym air +MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 +MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym freeman-sheldon syndrome variant MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sheldon-hall syndrome MONDO:0011128 Sheldon-hall syndrome skos:exactMatch OMIM:601680 arthrogryposis, distal, iia 2b1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sheldon-hall syndrome -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 -MONDO:0011128 Sheldon-hall syndrome skos:closeMatch Orphanet:1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834523 MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011129 glaucoma type 1C skos:closeMatch OMIM:601682 glaucoma 1, primary open angle, c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma type 1, primary open angle, c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym todv syndrome MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alves syndrome +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym todv syndrome MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichooculodermovertebral syndrome -MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and ectodermal dysplasia MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis and ectodermal dysplasia +MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch OMIM:601701 arthrogryposis and ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and ectodermal dysplasia MONDO:0011131 tricho-oculo-dermo-vertebral syndrome skos:closeMatch Orphanet:3200 Arthrogryposis-ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601701 MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601705 +MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866425 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601706 MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 -MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type skos:closeMatch Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536771 -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome -MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601707 +MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym curry-jones syndrome MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome -MONDO:0011134 Curry-Jones syndrome skos:closeMatch OMIM:601707 curry-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development -MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 quebec semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label curry-jones syndrome +MONDO:0011134 Curry-Jones syndrome skos:closeMatch Orphanet:1553 Curry-Jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601707 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866423 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 -MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601709 MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536260 +MONDO:0011136 Quebec platelet disorder skos:closeMatch Orphanet:220436 Quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601709 +MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 5 quebec semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011136 Quebec platelet disorder skos:closeMatch OMIM:601709 quebec platelet disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011137 retinitis pigmentosa 19 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601718 MONDO:0011139 preaxial hallucal polydactyly skos:closeMatch Orphanet:1926 Diabetic embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601759 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym edsmc -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type 1 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musculocontractural eds -MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:exactMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch NCIT:C168975 Ehlers-Danlos Syndrome, Musculocontractural Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type 1 +MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis MONDO:0011143 cone-rod dystrophy 6 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601777 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 -MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601780 MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A skos:closeMatch Orphanet:228363 CLN6 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln6 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma-obesity-hypogenitalism-mental retardation syndrome -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma-obesity-hypogenitalism-mental retardation syndrome -MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866256 MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601794 +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866256 +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma-obesity-hypogenitalism-mental retardation syndrome +MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome skos:closeMatch OMIM:601794 coloboma-obesity-hypogenitalism-mental retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coloboma-obesity-hypogenitalism-mental retardation syndrome MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265449 MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 12p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011146 tetrasomy 12p skos:closeMatch Orphanet:884 Tetrasomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601803 -MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011146 tetrasomy 12p skos:closeMatch OMIM:601803 pallister-killian syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hexasomy type 12p, mosaic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 18q- syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:1600 Monosomy 18q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601808 -MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch Orphanet:262146 Partial deletion of the long arm of chromosome 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432443 +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 18q- syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011147 chromosome 18q deletion syndrome skos:closeMatch OMIM:601808 chromosome 18q deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18q- syndrome MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866182 MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome skos:closeMatch Orphanet:363665 Acroosteolysis-keloid-like lesions-premature aging syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601812 MONDO:0011151 exudative vitreoretinopathy 4 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601813 -MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601815 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis +MONDO:0011152 PHGDH deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, neonatal -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nesidioblastosis +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, familial MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:657 Congenital isolated hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, neonatal +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nesidioblastosis MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, persistent MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia -MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, congenital +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch Orphanet:79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601820 +MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch NCIT:C122923 Persistent Hyperinsulinemic Hypoglycemia of Infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent hyperinsulinemic hypoglycemia of infancy MONDO:0011153 hyperinsulinemic hypoglycemia, familial, 2 skos:closeMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866168 -MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601829 MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538185 +MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601829 +MONDO:0011154 acrofacial dysostosis, Palagonia type skos:closeMatch Orphanet:1787 Acrofacial dysostosis, Palagonia type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866168 MONDO:0011155 vacuolar Neuromyopathy skos:closeMatch OMIM:601846 vacuolar neuromyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, autosomal dominant, with rimmed vacuoles MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomez-lopez-hernandez syndrome -MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gomez-lopez-hernandez syndrome +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601847 +MONDO:0011156 progressive familial intrahepatic cholestasis type 2 skos:closeMatch OMIM:601847 cholestasis, progressive familial intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gómez-lópez-hernández syndrome MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch Orphanet:1532 Gómez-López-Hernández syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601853 +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gomez-lopez-hernandez syndrome +MONDO:0011157 Gomez-Lopez-Hernandez syndrome skos:closeMatch OMIM:601853 gomez-lopez-hernandez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomez-lopez-hernandez syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome +MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601859 MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch NCIT:C37864 Autoimmune Lymphoproliferative Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune lymphoproliferative syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601859 -MONDO:0011158 autoimmune lymphoproliferative syndrome type 1 skos:closeMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym canale-smith syndrome MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement -MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch OMIM:601868 deafness, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601868 MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 95 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch OMIM:601869 deafness, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601869 MONDO:0011161 sperm-specific antigen 1 skos:closeMatch OMIM:601876 sperm-specific antigen 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fertilization antigen type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cae3 -MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601885 MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, zonular pulverulent type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs5 +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 14, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011162 cataract 14 multiple types skos:closeMatch OMIM:601885 cataract 14, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cae3 +MONDO:0011162 cataract 14 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601885 MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601887 -MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs6 +MONDO:0011163 malignant hyperthermia, susceptibility to, 5 skos:closeMatch OMIM:601887 malignant hyperthermia, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs5 MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601888 -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibronectin glomerulopathy -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601894 -MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibronectin glomerulopathy +MONDO:0011164 malignant hyperthermia, susceptibility to, 6 skos:closeMatch OMIM:601888 malignant hyperthermia, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhs6 MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerular nephritis, familial, with fibronectin deposits -MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, cardiac septal defects, and characteristic facies +MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch OMIM:601894 glomerulopathy with fibronectin deposits 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibronectin glomerulopathy +MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601894 +MONDO:0011165 glomerulopathy with fibronectin deposits 2 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibronectin glomerulopathy MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, atrial septal defect, and characteristic facies +MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, cardiac septal defects, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch OMIM:601927 lymphedema, cardiac septal defects, and characteristic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, cardiac septal defects, and characteristic facies MONDO:0011166 lymphedema-atrial septal defects-facial changes syndrome skos:closeMatch Orphanet:86915 Lymphedema-atrial septal defects-facial changes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601927 MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011167 type 1 diabetes mellitus 6 skos:closeMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011168 type 1 diabetes mellitus 10 skos:closeMatch OMIM:601942 iia 1 diabetes mellitus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis linearis with ichthyosis congenita and sclerosing keratoderma +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601952 +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis linearis with ichthyosis congenita and sclerosing keratoderma +MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis linearis with ichthyosis congenita and sclerosing keratoderma MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch OMIM:601952 keratosis linearis with ichthyosis congenita and sclerosing keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klick syndrome -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601952 -MONDO:0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome skos:closeMatch Orphanet:281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866029 MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G skos:closeMatch Orphanet:34514 Telethonin-related limb-girdle muscular dystrophy R7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601954 -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601957 MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601957 MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch Orphanet:69082 Odonto-tricho-ungual-digito-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865998 MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym otudp syndrome -MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontotrichoungual-digital-palmar syndrome MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label odontotrichoungual-digital-palmar syndrome +MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome skos:closeMatch OMIM:601957 odontotrichoungual-digital-palmar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym odontotrichoungual-digital-palmar syndrome MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:71493 Familial thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 MONDO:0011173 thrombocythemia 2 skos:closeMatch Orphanet:3318 Essential thrombocythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601977 MONDO:0011175 Friedreich ataxia 2 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601992 MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia with secondary hypocalcemia -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, intestinal, with secondary hypocalcemia -MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homg MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602014 MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865974 MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 1, intestinal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, intestinal, with secondary hypocalcemia +MONDO:0011176 intestinal hypomagnesemia 1 skos:closeMatch OMIM:602014 hypomagnesemia 1, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homg MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602032 MONDO:0011177 ectodermal dysplasia 4, hair/nail type skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile convulsions and paroxysmal choreoathetosis, familial -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602066 -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865926 +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label convulsions, familial infantile, with paroxysmal choreoathetosis MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia with infantile convulsions +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865926 +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602066 MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch NCIT:C126650 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile convulsions and paroxysmal choreoathetosis, familial -MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label convulsions, familial infantile, with paroxysmal choreoathetosis +MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch Orphanet:31709 Infantile convulsions and choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym icca syndrome MONDO:0011178 infantile convulsions and choreoathetosis skos:closeMatch OMIM:602066 convulsions, familial infantile, with paroxysmal choreoathetosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial infantile, with paroxysmal choreoathetosis -MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom2 locus MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch OMIM:602078 fibrosis of extraocular muscles, congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, autosomal recessive +MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fish-odor syndrome -MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trimethylaminuria -MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trimethylaminuria +MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trimethylaminuria +MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trimethylaminuria MONDO:0011182 trimethylaminuria skos:exactMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trimethylaminuria -MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement MONDO:0011184 childhood apraxia of speech skos:closeMatch Orphanet:209908 Isolated childhood apraxia of speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602081 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602082 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 -MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, honeycomb-shaped +MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011184 childhood apraxia of speech skos:closeMatch OMIM:602081 speech-language disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label speech-language disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch OMIM:602082 corneal dystrophy, thiel-behnke iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, honeycomb-shaped MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535942 +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602082 +MONDO:0011185 Thiel-Behnke corneal dystrophy skos:closeMatch Orphanet:98960 Thiel-Behnke corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562894 MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 MONDO:0011186 Usher syndrome type 1F skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602083 MONDO:0011187 polydactyly, postaxial, type A2 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602085 +MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602086 MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 skos:closeMatch OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602087 -MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602087 +MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:604635 NXPH2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 MONDO:0011190 nephronophthisis 2 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602088 -MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:604635 NXPH2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 MONDO:0011190 nephronophthisis 2 skos:closeMatch OMIM:602088 nephronophthisis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph2 MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602092 -MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 -MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A skos:closeMatch OMIM:602092 deafness, autosomal recessive 18a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy +MONDO:0011193 cone dystrophy 3 skos:closeMatch OMIM:602093 cone dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 +MONDO:0011193 cone dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602093 +MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad5 MONDO:0011194 Alzheimer disease 5 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602096 MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011194 Alzheimer disease 5 skos:closeMatch OMIM:602096 alzheimer disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad5 MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 MONDO:0011195 Usher syndrome type 1E skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602097 -MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch OMIM:602099 amyotrophic lateral sclerosis 5, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 5, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011196 amyotrophic lateral sclerosis type 5 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602099 -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary thermosensitive -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary thermosensitive -MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865856 MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602107 -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal anadysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 +MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch Orphanet:84093 Hereditary thermosensitive neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865856 +MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary thermosensitive +MONDO:0011197 hereditary thermosensitive neuropathy skos:closeMatch OMIM:602107 neuropathy, hereditary thermosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary thermosensitive MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch Orphanet:93356 Spondyloepimetaphyseal dysplasia, Missouri type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602111 +MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type skos:closeMatch OMIM:602111 spondyloepimetaphyseal dysplasia, missouri iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal anadysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011199 nephropathy, progressive tubulointerstitial, with cholestatic liver disease skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602114 -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical dystonia, primary -MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym torsion dystonia, focal adult-onset -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 -MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 -MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia +MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 7, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011200 torsion dystonia 7 skos:closeMatch OMIM:602124 dystonia 7, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cervical dystonia, primary MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa syndrome +MONDO:0011202 RHYNS syndrome skos:closeMatch OMIM:602152 rhyns syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602152 +MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 +MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537612 MONDO:0011202 RHYNS syndrome skos:closeMatch Orphanet:140976 RHYNS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865794 MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia related to campomelic dysplasia MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch OMIM:602196 pierre robin sequence with pectus excavatum and rib and scapular anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym campomelic dysplasia, mild MONDO:0011203 Pierre Robin sequence with pectus excavatum and rib and scapular anomalies skos:closeMatch Orphanet:140 Campomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602196 MONDO:0011205 medium chain 3-ketoacyl-Coa thiolase deficiency skos:closeMatch OMIM:602199 medium chain 3-ketoacyl-coa thiolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckat deficiency MONDO:0011207 xanthomatosis, susceptibility to skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602247 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch OMIM:602248 malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papulosis, malignant atrophic MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064281 +MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602248 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054853 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602248 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064281 -MONDO:0011208 malignant atrophic papulosis skos:closeMatch OMIM:602248 malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papulosis, malignant atrophic MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602271 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865695 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch Orphanet:168549 Axial spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535795 +MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd, axial MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axial smd MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia, axial MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, axial -MONDO:0011211 axial spondylometaphyseal dysplasia skos:closeMatch OMIM:602271 spondylometaphyseal dysplasia, axial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd, axial MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plantar lipomatosis, unusual facies, and developmental delay MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierpont syndrome MONDO:0011213 Pierpont syndrome skos:closeMatch OMIM:602342 pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome -MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602342 MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pierpont syndrome +MONDO:0011213 Pierpont syndrome skos:closeMatch Orphanet:487825 Pierpont syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602342 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865643 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535935 -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mdr3 deficiency +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, progressive familial intrahepatic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch OMIM:602347 cholestasis, progressive familial intrahepatic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase -MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865643 -MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym habrodysplasia -MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia, lethal, with gracile bones +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 +MONDO:0011214 progressive familial intrahepatic cholestasis type 3 skos:closeMatch Orphanet:79305 Progressive familial intrahepatic cholestasis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602347 MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865639 MONDO:0011215 osteocraniostenosis skos:closeMatch Orphanet:2763 Osteocraniostenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602361 +MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skeletal dysplasia, lethal, with gracile bones +MONDO:0011215 osteocraniostenosis skos:closeMatch OMIM:602361 gracile bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym habrodysplasia MONDO:0011216 hemochromatosis type 2A skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602390 MONDO:0011216 hemochromatosis type 2A skos:closeMatch OMIM:602390 hemochromatosis, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, juvenile -MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865596 MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602398 -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with hypotrichosis, autosomal recessive -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011217 desmosterolosis skos:closeMatch Orphanet:35107 Desmosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865596 MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602400 +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch OMIM:602400 ichthyosis, congenital, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis with hypotrichosis, autosomal recessive MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835851 +MONDO:0011218 autosomal recessive congenital ichthyosis 11 skos:closeMatch Orphanet:91132 Ichthyosis-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602400 MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406715 MONDO:0011219 Fried's tooth and nail syndrome skos:closeMatch Orphanet:99672 Fried's tooth and nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602401 -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch OMIM:602404 parkinson disease 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 3, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011220 parkinson disease 3, autosomal dominant skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602404 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865409 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch Orphanet:357043 Amyotrophic lateral sclerosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602433 MONDO:0011223 amyotrophic lateral sclerosis type 4 skos:closeMatch OMIM:602433 amyotrophic lateral sclerosis 4, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, distal hereditary motor, with pyramidal features -MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, nonprogressive -MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, monomelic -MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophy, monomelic -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602440 -MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865384 MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069681 +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865384 +MONDO:0011224 monomelic amyotrophy skos:closeMatch Orphanet:65684 Monomelic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538253 +MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, juvenile, nonprogressive +MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophy, monomelic +MONDO:0011224 monomelic amyotrophy skos:closeMatch OMIM:602440 amyotrophy, monomelic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophy, monomelic MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, partial +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan type +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602450 +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabascan type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs-scid MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athabaskan severe combined immunodeficiency +MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rs-scid MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with sensitivity to ionizing radiation MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabascan type -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602450 -MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch OMIM:602450 severe combined immunodeficiency with sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, athabaskan-type MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency skos:closeMatch NCIT:C162694 Severe Combined Immunodeficiency, Athabascan Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency, athabascan type -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch OMIM:602459 deafness, autosomal dominant 15 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602459 +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities +MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602471 MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch Orphanet:397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865361 -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities -MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome skos:closeMatch OMIM:602471 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865349 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 -MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602473 MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, ethylmalonic MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch OMIM:602473 encephalopathy, ethylmalonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, ethylmalonic +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865349 +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602473 +MONDO:0011229 ethylmalonic encephalopathy skos:closeMatch Orphanet:51188 Ethylmalonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535737 MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ossification of the posterior longitudinal ligament of spine MONDO:0011230 ossification of the posterior longitudinal ligament of the spine skos:closeMatch OMIM:602475 ossification of the posterior longitudinal ligament of spine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ossification of the posterior longitudinal ligament of spine MONDO:0011231 febrile seizures, familial, 2 skos:closeMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhp2 MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial basilar +MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch OMIM:602481 migraine, familial hemiplegic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mhp2 MONDO:0011232 migraine, familial hemiplegic, 2 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602481 -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rieger anomaly -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior chamber cleavage syndrome +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:602482 axenfeld-rieger syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis +MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label axenfeld anomaly MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602482 -MONDO:0011233 Axenfeld-Rieger syndrome type 3 skos:closeMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602483 MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears syndrome -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865294 +MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602483 +MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011234 auriculocondylar syndrome 1 skos:closeMatch OMIM:602483 auriculocondylar syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602484 -MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic hypoplasia with lower-limb arthrogryposis +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865294 MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelvic hypoplasia with lower-limb arthrogryposis +MONDO:0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome skos:closeMatch OMIM:602484 pelvic hypoplasia with lower-limb arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelvic hypoplasia with lower-limb arthrogryposis MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch OMIM:602485 hyperinsulinemic hypoglycemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011236 hyperinsulinism due to glucokinase deficiency skos:closeMatch Orphanet:79299 Hyperinsulinism due to glucokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602485 -MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangic chondrodysplasia punctata +MONDO:0011237 hyperlipidemia, combined, 1 skos:closeMatch OMIM:602491 hyperlipidemia, familial combined, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602497 MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch OMIM:602497 chondrodysplasia punctata, brachytelephalangic, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachytelephalangic chondrodysplasia punctata +MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachytelephalangic chondrodysplasia punctata MONDO:0011238 chondrodysplasia punctata, brachytelephalangic, autosomal skos:closeMatch Orphanet:79345 Brachytelephalangic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844853 +MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrophthalmia, colobomatous, with microcornea MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch Orphanet:468672 Colobomatous macrophthalmia-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602499 MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrophthalmia, colobomatous, with microcornea -MONDO:0011239 colobomatous macrophthalmia-microcornea syndrome skos:closeMatch OMIM:602499 macrophthalmia, colobomatous, with microcornea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrophthalmia, colobomatous, with microcornea -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly-cutis marmorata telangiectatica congenita +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865285 MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602501 MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-capillary malformation MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly-cutis marmorata telangiectatica congenita -MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865285 +MONDO:0011240 megalencephaly-capillary malformation-polymicrogyria syndrome skos:closeMatch OMIM:602501 megalencephaly-capillary malformation-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly-cutis marmorata telangiectatica congenita MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:89938 Bartter syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 -MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness with mild renal dysfunction MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, neonatal, with sensorineural deafness +MONDO:0011242 Bartter disease type 4A skos:closeMatch OMIM:602522 bartter syndrome, iia 4a, neonatal, with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorineural deafness with mild renal dysfunction MONDO:0011242 Bartter disease type 4A skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602522 MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865267 MONDO:0011243 grange syndrome skos:closeMatch Orphanet:79094 Grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602531 MONDO:0011243 grange syndrome skos:closeMatch OMIM:602531 grange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arterial occlusive disorder, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall-smith syndrome +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536026 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall-smith syndrome -MONDO:0011244 Marshall-Smith syndrome skos:closeMatch OMIM:602535 marshall-smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall-smith syndrome +MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265211 MONDO:0011244 Marshall-Smith syndrome skos:closeMatch Orphanet:561 Marshall-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602535 -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosis, hystrix-like, with deafness -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ichthyosis, hystrix-like, with deafness -MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602540 MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hid syndrome -MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602541 +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602540 +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label ichthyosis, hystrix-like, with deafness +MONDO:0011245 ichthyosis, hystrix-like, with hearing loss skos:closeMatch OMIM:602540 ichthyosis, hystrix-like, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ichthyosis, hystrix-like, with deafness MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865233 +MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch Orphanet:280671 Megaconial congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602541 MONDO:0011246 megaconial type congenital muscular dystrophy skos:closeMatch OMIM:602541 muscular dystrophy, congenital, megaconial iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with mitochondrial structural abnormalities MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865208 MONDO:0011248 distal monosomy 13q skos:closeMatch Orphanet:1590 Distal monosomy 13q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602553 MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anal atresia, hypospadias, and penoscrotal inversion MONDO:0011248 distal monosomy 13q skos:closeMatch OMIM:602553 anal atresia, hypospadias, and penoscrotal inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anal atresia, hypospadias, and penoscrotal inversion MONDO:0011249 torsion dystonia with onset in infancy skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602554 -MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602557 MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865185 +MONDO:0011252 spondyloepimetaphyseal dysplasia, Shohat type skos:closeMatch Orphanet:93352 Spondyloepimetaphyseal dysplasia, Shohat type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602557 MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602558 MONDO:0011253 craniomicromelic syndrome skos:closeMatch Orphanet:1524 Craniomicromelic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865184 -MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with macroblepharon and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibulofacial dysostosis with macroblepharon and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroblepharon, ectropion, hypertelorism, and macrostomia +MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis with macroblepharon and macrostomia MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602562 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch Orphanet:357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865181 MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome skos:closeMatch OMIM:602562 mandibulofacial dysostosis with macroblepharon and macrostomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym verloes-lesenfants syndrome -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saguenay-lac saint-jean syndrome MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein-losing enteropathy-hepatic fibrosis syndrome -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosephosphate isomerase deficiency MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpi deficiency -MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ib +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saguenay-lac saint-jean syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mannosephosphate isomerase deficiency MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slsj syndrome +MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch OMIM:602579 congenital disorder of glycosylation, iia ib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ib MONDO:0011257 MPI-congenital disorder of glycosylation skos:closeMatch Orphanet:79319 MPI-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602579 -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment anomalies with or without cataract MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiootic dysplasia -MONDO:0011258 branchiootic syndrome 1 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602588 MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011258 branchiootic syndrome 1 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602588 +MONDO:0011258 branchiootic syndrome 1 skos:closeMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment anomalies with or without cataract MONDO:0011259 retinitis pigmentosa 22 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602594 MONDO:0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602611 MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye skos:closeMatch Orphanet:1323 Camptodactyly-joint contractures-facial skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602612 -MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt6 type MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602629 MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1414216 +MONDO:0011264 torsion dystonia 6 skos:closeMatch Orphanet:98806 Primary dystonia, DYT6 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt6 type MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011264 torsion dystonia 6 skos:closeMatch OMIM:602629 dystonia 6, torsion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 6, torsion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011265 tooth agenesis, selective, 2 skos:closeMatch OMIM:602639 tooth agenesis, selective, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic myopathy, proximal +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch OMIM:602668 myotonic dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602668 MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonic dystrophy type 2 semapv:RegularExpressionReplacement +MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602668 -MONDO:0011266 myotonic dystrophy type 2 skos:closeMatch NCIT:C84680 Dystrophia Myotonica 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystrophia myotonica type 2 semapv:RegularExpressionReplacement MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration -MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrst MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration +MONDO:0011267 intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration skos:closeMatch OMIM:602685 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrst MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 MONDO:0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602722 MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch OMIM:602759 prostate cancer, hereditary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym predisposing for prostate cancer MONDO:0011270 prostate cancer, hereditary, 8 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602759 +MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:324604 Classic multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 -MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:84132 Desmin-related myopathy with Mallory body-like inclusions semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011271 rigid spine muscular dystrophy 1 skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602771 MONDO:0011272 retinitis pigmentosa 25 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602772 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss -MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 -MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rosai-dorfman disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis-lymphadenopathy plus syndrome MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis -MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis-lymphadenopathy plus syndrome +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy +MONDO:0011273 H syndrome skos:closeMatch Orphanet:158014 Rosaï-Dorfman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 +MONDO:0011273 H syndrome skos:closeMatch Orphanet:168569 H syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 +MONDO:0011273 H syndrome skos:closeMatch OMIM:602782 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness +MONDO:0011274 Muenke syndrome skos:closeMatch OMIM:602849 muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muenke nonsyndromic coronal craniosynostosis MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864436 MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537369 MONDO:0011274 Muenke syndrome skos:closeMatch Orphanet:53271 Muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602849 -MONDO:0011274 Muenke syndrome skos:closeMatch OMIM:602849 muenke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muenke nonsyndromic coronal craniosynostosis -MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602875 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535661 +MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch Orphanet:40 Acromesomelic dysplasia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602875 MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type skos:closeMatch OMIM:602875 acromesomelic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym st. helena dysplasia -MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 +MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 MONDO:0011276 orofacial cleft 2 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602966 -MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603010 MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch OMIM:603010 deafness, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ic, formerly -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603010 MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603034 -MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endplate acetylcholinesterase deficiency +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ic, formerly MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonsmall cell lung cancer -MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer suppressor +MONDO:0011281 congenital myasthenic syndrome 5 skos:closeMatch OMIM:603034 myasthenic syndrome, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endplate acetylcholinesterase deficiency MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsg11 +MONDO:0011282 tumor suppressor gene on chromosome 11 skos:closeMatch OMIM:603040 tumor suppressor gene on chromosome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonsmall cell lung cancer suppressor +MONDO:0011282 tumor suppressor gene on chromosome 11 skos:exactMatch OMIM:211980 lung cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonsmall cell lung cancer MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polip syndrome -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, tymp-related -MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 1 (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polip syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603041 -MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of +MONDO:0011283 mitochondrial DNA depletion syndrome 1 skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011285 age related macular degeneration 1 skos:exactMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of +MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maculopathy, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011285 age related macular degeneration 1 skos:closeMatch OMIM:603075 macular degeneration, age-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603098 MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch OMIM:603116 cdags syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, anal anomalies, and porokeratosis -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 +MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 skos:closeMatch OMIM:603098 deafness, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap syndrome MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603116 MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 -MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:exactMatch OMIM:208250 camptodactyly-arthropathy-coxa vara-pericarditis syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cap syndrome -MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536789 +MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome skos:closeMatch OMIM:603116 cdags syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, anal anomalies, and porokeratosis MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603147 +MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alg6-cdg MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch OMIM:603147 congenital disorder of glycosylation, iia ic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ic MONDO:0011291 ALG6-congenital disorder of glycosylation 1C skos:closeMatch Orphanet:79320 ALG6-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930997 MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 5 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011294 schizophrenia 5 skos:closeMatch OMIM:603175 schizophrenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 6q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 7 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011295 schizophrenia 7 skos:closeMatch OMIM:603176 schizophrenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 13q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011296 Meckel syndrome, type 2 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603194 MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603204 MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 skos:closeMatch OMIM:603204 epilepsy, nocturnal frontal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 8 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011298 schizophrenia 8 skos:closeMatch OMIM:603206 schizophrenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 18-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prion disorder, early-onset, with prominent psychiatric features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington-like neurodegenerative disorder, autosomal dominant +MONDO:0011299 Huntington disease-like 1 skos:closeMatch OMIM:603218 huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prion disorder, early-onset, with prominent psychiatric features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864112 MONDO:0011299 Huntington disease-like 1 skos:closeMatch Orphanet:157941 Huntington disease-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603218 +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932715 +MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603233 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548075 -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603233 -MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch Orphanet:94089 Pseudohypoparathyroidism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932715 MONDO:0011301 pseudohypoparathyroidism type 1B skos:closeMatch OMIM:603233 pseudohypoparathyroidism, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011302 type 1 diabetes mellitus 17 skos:closeMatch OMIM:603266 iia 1 diabetes mellitus 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603278 MONDO:0011303 focal segmental glomerulosclerosis 1 skos:closeMatch OMIM:603278 focal segmental glomerulosclerosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603284 MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch OMIM:603284 cerebral cavernous malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011304 cerebral cavernous malformation 2 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603284 MONDO:0011305 cerebral cavernous malformation 3 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603285 MONDO:0011307 schizophrenia 2 skos:closeMatch OMIM:603342 schizophrenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 11q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fellman syndrome +MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, finnish, with hepatic hemosiderosis MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym finnish lethal neonatal metabolic syndrome MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death -MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidosis, finnish, with hepatic hemosiderosis -MONDO:0011308 GRACILE syndrome skos:closeMatch OMIM:603358 gracile syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fellman syndrome +MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864002 MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537934 MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603358 -MONDO:0011308 GRACILE syndrome skos:closeMatch Orphanet:53693 GRACILE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864002 -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, familial gestational -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial gestational -MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863959 MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603373 +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch Orphanet:99819 Familial gestational hyperthyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566384 +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, familial gestational +MONDO:0011309 familial gestational hyperthyroidism skos:closeMatch OMIM:603373 hyperthyroidism, familial gestational semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, familial gestational MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603386 +MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603387 MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meg-pmg-megacc syndrome -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, mega corpus callosum, and complete lack of motor development MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, polymicrogyria, mega corpus callosum syndrome -MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603387 +MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:closeMatch OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephaly, mega corpus callosum, and complete lack of motor development MONDO:0011314 Graves disease, susceptibility to, 2 skos:closeMatch OMIM:603388 graves disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grd2 +MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:exactMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863881 MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603438 -MONDO:0011320 radioulnar synostosis-microcephaly-scoliosis syndrome skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome -MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome -MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603467 +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 +MONDO:0011323 arhinia, choanal atresia, and microphthalmia skos:closeMatch Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603457 MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group f MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch OMIM:603467 fanconi anemia, complementation group f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f +MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603467 MONDO:0011325 Fanconi anemia complementation group F skos:closeMatch NCIT:C125707 Fanconi Anemia, Complementation Group F semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group f +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type ii -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type 2 MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrullinemia type 2 -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603471 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrin deficiency MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247582 Citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrin deficiency MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch NCIT:C150603 Citrullinemia Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label citrullinemia type ii -MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch OMIM:603471 citrullinemia, iia ii, adult-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym citrin deficiency -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863843 +MONDO:0011326 citrullinemia, type II, adult-onset skos:closeMatch Orphanet:247585 Citrullinemia type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset citrullinemia type 2 +MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537395 -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 +MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch Orphanet:2289 Neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863843 MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch OMIM:603472 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niid -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1963674 +MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch OMIM:603516 spinocerebellar ataxia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603516 -MONDO:0011330 spinocerebellar ataxia type 10 skos:closeMatch Orphanet:98761 Spinocerebellar ataxia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 10 semapv:RegularExpressionReplacement -MONDO:0011331 congenital chylothorax skos:exactMatch NCIT:C98891 Congenital Chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603523 -MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340014 MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chylothorax, congenital MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrothorax, congenital MONDO:0011331 congenital chylothorax skos:closeMatch OMIM:603523 chylothorax, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chylothorax, congenital +MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603523 +MONDO:0011331 congenital chylothorax skos:closeMatch Orphanet:264688 Congenital chylothorax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340014 +MONDO:0011331 congenital chylothorax skos:exactMatch NCIT:C98891 Congenital Chylothorax semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital chylothorax MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lfss MONDO:0011333 light fixation seizure syndrome skos:closeMatch OMIM:603530 light fixation seizure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym m syndrome -MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603543 MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535903 -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type -MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 +MONDO:0011334 limb-mammary syndrome skos:closeMatch Orphanet:69085 Limb-mammary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603543 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603546 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863732 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 2 +MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch NCIT:C125419 Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia with joint laxity type 2 MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations skos:closeMatch Orphanet:93360 Spondyloepimetaphyseal dysplasia with multiple dislocations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535784 -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh4 -MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh4 MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch OMIM:603552 hemophagocytic lymphohistiocytosis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh4 MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603552 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh2 -MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh2 MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603553 -MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603554 +MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 skos:closeMatch OMIM:603553 hemophagocytic lymphohistiocytosis, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh2 MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069097 -MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticuloendotheliosis, familial, with eosinophilia +MONDO:0011338 Omenn syndrome skos:closeMatch Orphanet:39041 Omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603554 MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with hypereosinophilia -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011338 Omenn syndrome skos:closeMatch OMIM:603554 omenn syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticuloendotheliosis, familial, with eosinophilia MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603563 MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch Orphanet:100989 Autosomal dominant spastic paraplegia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863704 +MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011339 hereditary spastic paraplegia 8 skos:closeMatch OMIM:603563 spastic paraplegia 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tracheobronchial stenosis, congenital MONDO:0011340 congenital tracheal stenosis skos:closeMatch OMIM:603569 tracheobronchial stenosis, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tracheobronchial stenosis, congenital MONDO:0011340 congenital tracheal stenosis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603569 @@ -17575,469 +17581,469 @@ MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria typ MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:93602 Xanthinuria type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 MONDO:0011346 xanthinuria type II skos:closeMatch Orphanet:3467 Hereditary xanthinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603592 MONDO:0011348 non-syndromic polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603622 MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603629 +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 skos:closeMatch OMIM:603622 deafness, autosomal dominant 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cochleosaccular degeneration +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement -MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch OMIM:603629 deafness, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603629 MONDO:0011355 cone-rod dystrophy 7 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603649 -MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603671 MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acromelic frontonasal dysplasia -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603678 +MONDO:0011359 acromelic frontonasal dysostosis skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603671 MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capb -MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603688 +MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603678 +MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 skos:closeMatch OMIM:603678 deafness, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbc +MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603688 +MONDO:0011361 prostate cancer/brain cancer susceptibility skos:closeMatch OMIM:603688 prostate cancer/brain cancer susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capb MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603689 MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure skos:closeMatch Orphanet:178464 Hereditary myopathy with early respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1863599 MONDO:0011363 diabetes mellitus, noninsulin-dependent, 3 skos:closeMatch OMIM:603694 iia 2 diabetes mellitus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch OMIM:603720 deafness, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 16 semapv:RegularExpressionReplacement MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603720 MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch Orphanet:3047 Blepharophimosis-intellectual disability syndrome, SBBYS type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603736 MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type skos:closeMatch OMIM:603736 ohdo syndrome, sbbys variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young-simpson syndrome -MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603737 MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer -MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian germ cell cancer +MONDO:0011366 ovarian germ cell tumor skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603737 MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian germ cell cancer +MONDO:0011366 ovarian germ cell tumor skos:closeMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian germ cell cancer MONDO:0011368 papillary thyroid Microcarcinoma skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603744 MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch OMIM:603776 hypercholesterolemia, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh3 MONDO:0011370 Stargardt disease 4 skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603786 MONDO:0011372 microcephaly with simplified gyral pattern skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603802 -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603813 +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive -MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypercholesterolemia, autosomal recessive, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch Orphanet:391665 Homozygous familial hypercholesterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603813 MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb2, formerly MONDO:0011374 hypercholesterolemia, familial, 4 skos:closeMatch OMIM:603813 hypercholesterolemia, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhcb1, formerly +MONDO:0011375 brittle bone disorder skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859069 MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0011375 brittle bone disorder skos:exactMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement -MONDO:0011375 brittle bone disorder skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859069 MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603829 MONDO:0011376 ventricular fibrillation, paroxysmal familial, type 1 skos:closeMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular fibrillation during myocardial infarction, susceptibility to MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 -MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 +MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 +MONDO:0011377 long QT syndrome 3 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603830 MONDO:0011377 long QT syndrome 3 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch NCIT:C122664 Leukoencephalopathy with Vanishing White Matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with vanishing white matter +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157716 Late infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cree leukoencephalopathy -MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood ataxia with central nervous system hypomyelinization MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vanishing white matter leukodystrophy with ovarian failure +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99854 Cree leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858991 MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157719 Juvenile or adult CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:157713 Congenital or early infantile CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603896 +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch NCIT:C122664 Leukoencephalopathy with Vanishing White Matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with vanishing white matter +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym childhood ataxia with central nervous system hypomyelinization +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cree leukoencephalopathy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy +MONDO:0011380 leukoencephalopathy with vanishing white matter skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy +MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858990 MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 -MONDO:0011381 dominant beta-thalassemia skos:closeMatch Orphanet:231226 Dominant beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 +MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603903 +MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040641 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000755 -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040641 -MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:232 Sickle cell anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002895 MONDO:0011382 sickle cell anemia skos:closeMatch Orphanet:251365 Sickle cell-hemoglobin C disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019034 MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603909 MONDO:0011384 hypertension, essential, susceptibility to, 1 skos:closeMatch OMIM:603918 hypertension, essential, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt1 MONDO:0011385 intervertebral disc degenerative disorder skos:closeMatch NCIT:C27156 Cervical Disc Degenerative Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical disc degenerative disorder semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, protection against -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microvascular complications of diabetes, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 -MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 +MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch OMIM:603964 deafness, autosomal dominant 16 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603964 MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch OMIM:603965 focal segmental glomerulosclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011390 focal segmental glomerulosclerosis 2 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603965 MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:exactMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megalencephalic leukoencephalopathy with subcortical cysts type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604060 MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch OMIM:604060 deafness, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604060 +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604091 MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hdl cholesterol, low serum -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency -MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hdl deficiency +MONDO:0011393 hypoalphalipoproteinemia, primary, 1 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency MONDO:0011395 cone-rod dystrophy 3 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604116 -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 -MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 -MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma with ichthyosis MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vohwinkel syndrome, variant form MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vohwinkel syndrome, variant form +MONDO:0011396 loricrin keratoderma skos:closeMatch OMIM:604117 vohwinkel syndrome, variant form semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mutilating keratoderma with ichthyosis +MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604117 +MONDO:0011396 loricrin keratoderma skos:closeMatch Orphanet:79395 Keratoderma hereditarium mutilans with ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858805 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch OMIM:604121 cerebellar ataxia, deafness, and narcolepsy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar ataxia, deafness, and narcolepsy, autosomal dominant MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604121 MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy skos:closeMatch Orphanet:314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa pruriginosa -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa pruriginosa -MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pruriginosa MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604129 +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deb, pruriginosa +MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch OMIM:604129 epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa pruriginosa MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa skos:closeMatch Orphanet:89843 Dystrophic epidermolysis bullosa pruriginosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275114 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043390 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604131 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043390 -MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:846 Alpha-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017085 -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011399 alpha thalassemia skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002312 MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604145 +MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011400 dilated cardiomyopathy 1G skos:closeMatch OMIM:604145 cardiomyopathy, dilated, 1g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1g semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011401 Alzheimer disease without neurofibrillary tangles skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604154 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 -MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with facial dysmorphism and neuropathy MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, facial dysmorphism, and neuropathy MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, facial dysmorphism, and neuropathy +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch OMIM:604168 congenital cataracts, facial dysmorphism, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with facial dysmorphism and neuropathy +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858726 +MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome skos:closeMatch Orphanet:48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604168 MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604169 MONDO:0011403 left ventricular noncompaction 1 skos:closeMatch OMIM:604169 left ventricular noncompaction 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 1 with or without congenital heart defects semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011404 Caronte skos:closeMatch OMIM:603881 NR1I3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car -MONDO:0011404 Caronte skos:closeMatch OMIM:604172 caronte semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011404 Caronte skos:closeMatch OMIM:602621 CXADR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car -MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604173 +MONDO:0011404 Caronte skos:closeMatch OMIM:604172 caronte semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym car MONDO:0011405 poikiloderma with neutropenia skos:closeMatch OMIM:604173 poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma with neutropenia, clericuzio-type +MONDO:0011405 poikiloderma with neutropenia skos:closeMatch Orphanet:221046 Poikiloderma with neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604173 MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch OMIM:604185 facial paresis, hereditary congenital, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011407 facial paresis, hereditary congenital, 2 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604185 -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10 with or without peripheral neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858712 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604187 MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537482 +MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch Orphanet:100991 Autosomal dominant spastic paraplegia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858712 MONDO:0011408 hereditary spastic paraplegia 10 skos:closeMatch OMIM:604187 spastic paraplegia 10, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 10, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sm2 MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, severe, susceptibility to, due to schistosoma japonicum infection -MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858695 +MONDO:0011409 hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection skos:closeMatch OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sm2 MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604213 +MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch Orphanet:314597 Chudley-McCullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858695 MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts MONDO:0011411 Chudley-McCullough syndrome skos:closeMatch OMIM:604213 chudley-mccullough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal recessive type 82, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858680 -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604218 -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, familial, with neuroserpin inclusion bodies -MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with collins bodies +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, familial, with neuroserpin inclusion bodies MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch OMIM:604218 encephalopathy, familial, with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, familial, with neuroserpin inclusion bodies +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858680 +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 +MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies skos:closeMatch Orphanet:85110 Familial encephalopathy with neuroserpin inclusion bodies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536841 +MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal dominant +MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 +MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 9, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal dominant MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 9, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011413 cataract 9 multiple types skos:closeMatch OMIM:604219 cataract 9, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 -MONDO:0011413 cataract 9 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604219 MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 -MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059202 +MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537884 -MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011414 Peters anomaly skos:closeMatch OMIM:604229 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 +MONDO:0011414 Peters anomaly skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059202 MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 +MONDO:0011415 Leber congenital amaurosis 3 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604232 MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604233 -MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604250 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537248 +MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604250 MONDO:0011417 hemochromatosis type 3 skos:closeMatch Orphanet:225123 Hemochromatosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858664 -MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity, partial MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone insensitivity, partial +MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone insensitivity, partial MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch OMIM:604271 growth hormone insensitivity, partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym increased responsiveness to growth hormone MONDO:0011420 short stature due to partial GHR deficiency skos:closeMatch Orphanet:314802 Short stature due to partial GHR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604271 MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604273 -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970309 +MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:93607 Autosomal recessive proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 +MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, proximal, with ocular abnormalities and mental retardation MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rta, proximal, autosomal recessive -MONDO:0011422 autosomal recessive proximal renal tubular acidosis skos:closeMatch Orphanet:47159 Proximal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604278 -MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604286 MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2e -MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604287 +MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604286 MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858592 +MONDO:0011424 Carney triad skos:closeMatch Orphanet:139411 Carney triad semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604287 MONDO:0011424 Carney triad skos:closeMatch OMIM:604287 carney triad semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 -MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with conduction defect +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604288 +MONDO:0011425 dilated cardiomyopathy 1H skos:closeMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1h semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceruloplasmin deficiency -MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604290 MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemosiderosis, systemic, due to aceruloplasminemia MONDO:0011426 aceruloplasminemia skos:closeMatch OMIM:604290 aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoceruloplasminemia +MONDO:0011426 aceruloplasminemia skos:closeMatch Orphanet:48818 Aceruloplasminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604290 MONDO:0011427 Ascaris lumbricoides infection, susceptibility to skos:closeMatch OMIM:604291 ascaris lumbricoides infection, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ascariasis, susceptibility to MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch OMIM:604292 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 skos:closeMatch Orphanet:1896 EEC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604292 -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic juvenile rheumatoid arthritis -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile chronic arthritis MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile chronic arthritis MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059177 -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rheumatoid arthritis, systemic juvenile MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rheumatoid arthritis, systemic juvenile +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic juvenile rheumatoid arthritis MONDO:0011429 juvenile idiopathic arthritis skos:exactMatch NCIT:C27179 Juvenile Rheumatoid Arthritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label juvenile rheumatoid arthritis -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch OMIM:604302 rheumatoid arthritis, systemic juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rheumatoid arthritis, systemic juvenile -MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NCIT:C26979 Juvenile Chronic Polyarthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile chronic polyarthritis MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604302 +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch Orphanet:92 Juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001171 +MONDO:0011429 juvenile idiopathic arthritis skos:closeMatch NCIT:C26979 Juvenile Chronic Polyarthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile chronic polyarthritis MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852438 MONDO:0011430 pulverulent cataract skos:closeMatch Orphanet:98984 Pulverulent cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833118 -MONDO:0011431 MASS syndrome skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858556 MONDO:0011431 MASS syndrome skos:closeMatch OMIM:604308 mass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overlap connective tissue disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011431 MASS syndrome skos:closeMatch Orphanet:251312 Overlapping connective tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858556 MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis-intellectual disability syndrome, verloes type -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with facial and genital anomalies and mental retardation MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604314 -MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharophimosis with facial and genital anomalies and mental retardation MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch OMIM:604314 blepharophimosis with facial and genital anomalies and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharophimosis with facial and genital anomalies and mental retardation +MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type skos:closeMatch Orphanet:293725 Blepharophimosis-intellectual disability syndrome, Verloes type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858538 MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604317 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn6 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, diaphragmatic +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn6 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronopathy, severe infantile axonal, with respiratory failure +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch OMIM:604320 spinal muscular atrophy, distal, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe infantile axonal neuropathy with respiratory failure MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604320 -MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858517 +MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 skos:closeMatch Orphanet:98920 Spinal muscular atrophy with respiratory distress type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy with respiratory distress type 1 semapv:RegularExpressionReplacement MONDO:0011437 microcephaly 4, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604321 -MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acne, adult -MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement -MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011438 acne skos:closeMatch OMIM:604324 acne, adult semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym acne, adult +MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acne semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:narrowMatch ICD10CM:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement +MONDO:0011438 acne skos:narrowMatch ICD10WHO:L70.8 Other acne semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acne semapv:RegularExpressionReplacement MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604326 MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858501 MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch Orphanet:98762 Spinocerebellar ataxia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement -MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch OMIM:604326 spinocerebellar ataxia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011439 spinocerebellar ataxia type 12 skos:closeMatch NCIT:C154316 Spinocerebellar Ataxia Type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 12 semapv:RegularExpressionReplacement MONDO:0011440 hypertension, essential, susceptibility to, 2 skos:closeMatch OMIM:604329 hypertension, essential, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt2 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034931 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064334 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 MONDO:0011441 complex regional pain syndrome type 1 skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604335 -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604348 MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604348 +MONDO:0011442 advanced sleep phase syndrome 1 skos:closeMatch OMIM:604348 advanced sleep phase syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011443 febrile seizures, familial, 4 skos:closeMatch OMIM:604352 febrile seizures, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011444 Duane retraction syndrome 2 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604356 -MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604360 MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch NCIT:C148317 Spastic Paraplegia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 11, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch OMIM:604360 spastic paraplegia 11, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum -MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch OMIM:604367 lipodystrophy, familial partial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with pparg mutations +MONDO:0011445 hereditary spastic paraplegia 11 skos:closeMatch Orphanet:2822 Autosomal recessive spastic paraplegia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604360 MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch Orphanet:79083 PPARG-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604367 -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 -MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096903 +MONDO:0011448 PPARG-related familial partial lipodystrophy skos:closeMatch OMIM:604367 lipodystrophy, familial partial, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with pparg mutations MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096903 +MONDO:0011449 Salla disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0011449 Salla disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604369 +MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604370 -MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604377 -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 -MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 -MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wh/ht +MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 skos:closeMatch OMIM:604377 mitochondrial complex 4 deficiency, nuclear iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, autosomal recessive MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 2, with or without hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus and bicuspid aortic valve with hand anomalies -MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies +MONDO:0011452 hypotrichosis 7 skos:closeMatch OMIM:604379 hypotrichosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wh/ht +MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 +MONDO:0011452 hypotrichosis 7 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604379 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604381 MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch Orphanet:228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858420 +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus and bicuspid aortic valve with hand anomalies +MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome skos:closeMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus and bicuspid aortic valve with hand anomalies MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604636 NXPH3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 MONDO:0011456 nephronophthisis 3 skos:closeMatch OMIM:604387 nephronophthisis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nph3 MONDO:0011456 nephronophthisis 3 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604387 -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ataxia-telangiectasia-like disorder MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement +MONDO:0011457 ataxia-telangiectasia-like disorder skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011457 ataxia-telangiectasia-like disorder skos:exactMatch NCIT:C132224 Ataxia-Telangiectasia-Like Disorder 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-telangiectasia-like disorder type 1 semapv:RegularExpressionReplacement -MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 +MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604393 MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related MONDO:0011458 Leber congenital amaurosis 4 skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604400 -MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604401 -MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 skos:exactMatch NCIT:C173470 Familial Arrhythmogenic Right Ventricular Dysplasia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604401 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch NCIT:C176016 Febrile Seizures, Familial, 3A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604403 MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 skos:closeMatch OMIM:604403 generalized epilepsy with febrile seizures plus, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604416 -MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858361 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858361 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536253 +MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch Orphanet:69126 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604416 MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch OMIM:604416 pyogenic sterile arthritis, pyoderma gangrenosum, and acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic sterile arthritis, pyoderma gangrenosum, and acne MONDO:0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome skos:closeMatch NCIT:C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyogenic arthritis, pyoderma gangrenosum and acne MONDO:0011463 polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive skos:closeMatch Orphanet:538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604431 -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604432 +MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858351 MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch OMIM:604432 spinocerebellar ataxia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858351 +MONDO:0011464 spinocerebellar ataxia type 11 skos:closeMatch Orphanet:98767 Spinocerebellar ataxia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 11 semapv:RegularExpressionReplacement MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma with follicular differentiation MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal cell carcinoma, infundibulocystic MONDO:0011465 infundibulocystic basal cell carcinoma skos:closeMatch OMIM:604451 basal cell carcinoma, infundibulocystic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, infundibulocystic -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal dominant MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym welander distal myopathy +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label welander distal myopathy MONDO:0011466 distal myopathy, Welander type skos:closeMatch Orphanet:603 Distal myopathy, Welander type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604454 +MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal dominant MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, swedish -MONDO:0011466 distal myopathy, Welander type skos:closeMatch OMIM:604454 welander distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label welander distal myopathy -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 -MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:90117 Hereditary motor and sensory neuropathy, Okinawa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535717 MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch OMIM:604484 neuropathy, hereditary motor and sensory, okinawa iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy, proximal type, formerly +MONDO:0011468 hereditary motor and sensory neuropathy, Okinawa type skos:closeMatch Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604484 +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amegakaryocytic thrombocytopenia, congenital +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amegakaryocytic thrombocytopenia, congenital +MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327915 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604498 MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535982 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch Orphanet:3319 Congenital amegakaryocytic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1327915 -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amegakaryocytic thrombocytopenia, congenital -MONDO:0011469 congenital amegakaryocytic thrombocytopenia skos:closeMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amegakaryocytic thrombocytopenia, congenital -MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011470 hyperlipidemia, combined, 2 skos:closeMatch OMIM:604499 hyperlipidemia, familial combined, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipidemia, familial combined, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536183 -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/skin fragility syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/skin fragility syndrome -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604536 MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcgrath syndrome +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858302 +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency skos:closeMatch OMIM:604536 ectodermal dysplasia/skin fragility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/skin fragility syndrome MONDO:0011473 Leber congenital amaurosis 5 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604537 MONDO:0011474 progressive familial heart block type IB skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604559 MONDO:0011474 progressive familial heart block type IB skos:closeMatch OMIM:604559 progressive familial heart block, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pfhbib MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 +MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535421 MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858278 -MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 skos:closeMatch Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604563 -MONDO:0011476 MHC class I deficiency skos:exactMatch NCIT:C171267 Bare Lymphocyte Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bare lymphocyte syndrome type 1 -MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hla class type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858266 MONDO:0011476 MHC class I deficiency skos:closeMatch Orphanet:34592 Immunodeficiency by defective expression of MHC class I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604571 -MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604625 +MONDO:0011476 MHC class I deficiency skos:closeMatch OMIM:604571 bare lymphocyte syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hla class type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011476 MHC class I deficiency skos:exactMatch NCIT:C171267 Bare Lymphocyte Syndrome Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bare lymphocyte syndrome type 1 MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch OMIM:604625 tooth agenesis, selective, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca syndrome +MONDO:0011477 tooth agenesis, selective, 3 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604625 MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca-weidemann syndrome +MONDO:0011478 growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia skos:closeMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roca syndrome MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance -MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soldiers heart MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocirculatory asthenia +MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soldiers heart MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch OMIM:604715 orthostatic intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orthostatic intolerance MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch NCIT:C84973 Orthostatic Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orthostatic intolerance MONDO:0011479 postural orthostatic tachycardia syndrome skos:closeMatch Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604715 -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604717 MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604717 +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement +MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 skos:closeMatch OMIM:604717 deafness, autosomal dominant 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011481 craniosynostosis 2 skos:closeMatch Orphanet:1541 Craniosynostosis, Boston type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604757 MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604765 -MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:126090 PCBD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd +MONDO:0011482 dilated cardiomyopathy 1I skos:closeMatch OMIM:604765 cardiomyopathy, dilated, 1i semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:604771 polycystic bone disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd +MONDO:0011483 polycystic bone disease skos:closeMatch OMIM:126090 PCBD1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcbd +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604772 -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604777 +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive +MONDO:0011485 autosomal recessive congenital ichthyosis 5 skos:closeMatch OMIM:604777 ichthyosis, congenital, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604801 +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch OMIM:604801 muscular dystrophy, congenital, 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858118 -MONDO:0011487 Huntington disease-like 3 skos:closeMatch OMIM:604802 huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington disorder-like neurodegenerative disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011486 congenital muscular dystrophy 1B skos:closeMatch Orphanet:98893 Congenital muscular dystrophy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604801 MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858114 +MONDO:0011487 Huntington disease-like 3 skos:closeMatch OMIM:604802 huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym huntington disorder-like neurodegenerative disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011487 Huntington disease-like 3 skos:closeMatch Orphanet:157946 Huntington disease-like 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604802 MONDO:0011488 microcephaly 3, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604804 -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 -MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858106 MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604805 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604809 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878555 -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch Orphanet:100993 Autosomal dominant spastic paraplegia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537484 +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011489 hereditary spastic paraplegia 12 skos:closeMatch OMIM:604805 spastic paraplegia 12, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 12, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpb MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panbronchiolitis, diffuse MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panbronchiolitis, diffuse -MONDO:0011490 diffuse panbronchiolitis skos:closeMatch OMIM:604809 panbronchiolitis, diffuse semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dpb +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604809 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536174 MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062952 -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604827 +MONDO:0011490 diffuse panbronchiolitis skos:closeMatch Orphanet:171700 Diffuse panbronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878555 MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 +MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604827 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858084 -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537493 +MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 +MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 +MONDO:0011493 Stickler syndrome type 2 skos:closeMatch Orphanet:90654 Stickler syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858084 MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym namaqualand hip dysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoarthritis with mild chondrodysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch OMIM:604864 osteoarthritis with mild chondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis with mild chondrodysplasia MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis skos:closeMatch Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604864 -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858051 -MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604901 MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym north american indian childhood cirrhosis MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch OMIM:604901 north american indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label north american indian childhood cirrhosis +MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858051 +MONDO:0011497 hereditary North American Indian childhood cirrhosis skos:closeMatch Orphanet:168583 Hereditary North American Indian childhood cirrhosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604901 MONDO:0011498 schizophrenia 9 skos:closeMatch OMIM:604906 schizophrenia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 1q42-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011498 schizophrenia 9 skos:closeMatch OMIM:604906 schizophrenia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 9 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011499 Okamoto syndrome skos:closeMatch Orphanet:2729 Okamoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604916 @@ -18045,354 +18051,354 @@ MONDO:0011499 Okamoto syndrome skos:closeMatch OMIM:604916 hydronephrosis, conge MONDO:0011499 Okamoto syndrome skos:closeMatch OMIM:604916 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858042 MONDO:0011500 Becker nevus syndrome skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604919 -MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical defects, wormian bones, and dentinogenesis imperfecta MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical defects, wormian bones, and dentinogenesis imperfecta +MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch OMIM:604922 cortical defects, wormian bones, and dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical defects, wormian bones, and dentinogenesis imperfecta MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604922 MONDO:0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia skos:closeMatch Orphanet:166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858032 MONDO:0011502 Wolfram syndrome 2 skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604928 -MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011502 Wolfram syndrome 2 skos:closeMatch OMIM:604928 wolfram syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011503 cortisone reductase deficiency 1 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604931 MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microhydranencephaly -MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microhydranencephaly MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch Orphanet:443162 NDE1-related microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605013 MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydranencephaly and microcephaly +MONDO:0011504 NDE1-related microhydranencephaly skos:closeMatch OMIM:605013 microhydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microhydranencephaly MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypolipidemia, familial, combined -MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch OMIM:605019 hypobetalipoproteinemia, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011505 familial hypobetalipoproteinemia 2 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605019 MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:86909 Myoclonic epilepsy of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917800 +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605021 MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoclonic epilepsy, familial infantile -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eim MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myoclonic epilepsy, familial infantile -MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch Orphanet:352582 Familial infantile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605021 -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma -MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C3211 Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma +MONDO:0011506 familial infantile myoclonic epilepsy skos:closeMatch OMIM:605021 myoclonic epilepsy, familial infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eim MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym non-hodgkin lymphoma MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605027 +MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma +MONDO:0011508 lymphoma, non-Hodgkin, familial skos:closeMatch NCIT:C3211 Non-Hodgkin Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-hodgkin lymphoma MONDO:0011509 low density lipoprotein cholesterol, mild elevation of skos:closeMatch OMIM:605028 low density lipoprotein cholesterol, mild elevation of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ldlc, mild elevation of -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605039 MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796232 -MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bohring-opitz syndrome MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome +MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch Orphanet:97297 Bohring-Opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605039 +MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch OMIM:605039 bohring-opitz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011510 Bohring-Opitz syndrome skos:closeMatch NCIT:C131533 Bohring-Opitz Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bohring-opitz syndrome MONDO:0011511 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia skos:closeMatch OMIM:605040 clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chzam +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857941 +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605041 MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:231200 bernard-soulier syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:209885 barber-say syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bss MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch OMIM:605041 brooke-spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spiegler-brooke syndrome -MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605041 +MONDO:0011512 Brooke-Spiegler syndrome skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857941 MONDO:0011513 Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605055 -MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049767 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243002 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605067 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018785 +MONDO:0011514 tricuspid atresia skos:closeMatch Orphanet:1209 Tricuspid atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049767 MONDO:0011516 early response to neural induction gene skos:closeMatch OMIM:605105 early response to neural induction gene semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erni MONDO:0011517 pseudohyperaldosteronism type 2 skos:closeMatch Orphanet:88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854631 MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch OMIM:605130 wiedemann-steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hairy elbows, short stature, facial dysmorphism, and developmental delay MONDO:0011518 Wiedemann-Steiner syndrome skos:closeMatch Orphanet:319182 Wiedemann-Steiner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605130 +MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement -MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch OMIM:605192 deafness, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 23 semapv:RegularExpressionReplacement MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605192 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854568 -MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605229 MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 +MONDO:0011522 hereditary spastic paraplegia 14 skos:closeMatch Orphanet:100995 Autosomal recessive spastic paraplegia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537486 MONDO:0011523 Bardet-Biedl syndrome 6 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605231 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931071 MONDO:0011524 Dianzani autoimmune lymphoproliferative disease skos:closeMatch Orphanet:275523 Dianzani autoimmune lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605233 MONDO:0011525 Carney complex type 2 skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605244 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, severe congenital +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605253 -MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 2 semapv:RegularExpressionReplacement +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch Orphanet:99951 Charcot-Marie-Tooth disease type 4E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535301 +MONDO:0011527 Charcot-Marie-Tooth disease type 4E skos:closeMatch OMIM:605253 neuropathy, congenital hypomyelinating, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital hypomyelinating, type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch NCIT:C129074 Immunodeficiency with Hyper-IgM Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm type 2 MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 -MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch OMIM:605258 immunodeficiency with hyper-igm, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605259 +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605258 +MONDO:0011528 hyper-IgM syndrome type 2 skos:closeMatch Orphanet:101089 Hyper-IgM syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 2 semapv:RegularExpressionReplacement MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854488 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 -MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605259 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement +MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch Orphanet:98768 Spinocerebellar ataxia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537195 MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011529 spinocerebellar ataxia type 13 skos:closeMatch OMIM:605259 spinocerebellar ataxia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605274 MONDO:0011530 mesomelic dysplasia, Savarirayan type skos:closeMatch Orphanet:85170 Mesomelic dysplasia, Savarirayan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854470 -MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605275 MONDO:0011531 Noonan syndrome 2 skos:closeMatch OMIM:605275 noonan syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome, autosomal recessive -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011531 Noonan syndrome 2 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605275 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537485 -MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605280 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854467 MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 13 -MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch Orphanet:100994 Autosomal dominant spastic paraplegia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605280 +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011532 hereditary spastic paraplegia 13 skos:closeMatch OMIM:605280 spastic paraplegia 13, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 13, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605282 MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854466 +MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch Orphanet:363417 Temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temtamy preaxial brachydactyly syndrome MONDO:0011533 temtamy preaxial brachydactyly syndrome skos:closeMatch OMIM:605282 temtamy preaxial brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temtamy preaxial brachydactyly syndrome -MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854449 MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605285 -MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605289 +MONDO:0011534 Charcot-Marie-Tooth disease type 4G skos:closeMatch Orphanet:99953 Charcot-Marie-Tooth disease type 4G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854449 MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011535 split hand-foot malformation 4 skos:closeMatch OMIM:605289 split-hand/foot malformation 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011535 split hand-foot malformation 4 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605289 MONDO:0011536 optic atrophy 4 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605293 -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854416 -MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly/autism syndrome MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch OMIM:605309 macrocephaly/autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly/autism syndrome +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854416 +MONDO:0011537 macrocephaly-autism syndrome skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605309 MONDO:0011539 nemaline myopathy 5 skos:closeMatch Orphanet:98902 Amish nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605355 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605361 -MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854369 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537196 +MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch Orphanet:98763 Spinocerebellar ataxia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854369 MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011540 spinocerebellar ataxia type 14 skos:closeMatch OMIM:605361 spinocerebellar ataxia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605362 +MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch OMIM:605362 cardiomyopathy, dilated, 1j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605373 +MONDO:0011541 dilated cardiomyopathy 1J skos:closeMatch Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605362 MONDO:0011544 paragangliomas 3 skos:closeMatch OMIM:605373 paragangliomas 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomus tumors, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011544 paragangliomas 3 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605373 MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605375 MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 skos:closeMatch OMIM:605375 epilepsy, nocturnal frontal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch OMIM:605376 heterotaxy, visceral, 2, autosomal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htx MONDO:0011546 heterotaxy, visceral, 2, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605376 +MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011547 cataract 31 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605387 -MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp +MONDO:0011547 cataract 31 multiple types skos:closeMatch OMIM:605387 cataract 31, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 31, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxic cerebral palsy +MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch OMIM:605388 cerebral palsy, ataxic, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acp MONDO:0011548 cerebral palsy, ataxic, autosomal recessive skos:closeMatch NCIT:C97168 Ataxic Cerebral Palsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxic cerebral palsy -MONDO:0011549 hypotrichosis 1 skos:closeMatch OMIM:605389 hypotrichosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis simplex, generalized, hereditary MONDO:0011549 hypotrichosis 1 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605389 +MONDO:0011549 hypotrichosis 1 skos:closeMatch OMIM:605389 hypotrichosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis simplex, generalized, hereditary +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673535 +MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal recessive MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym segawa syndrome, autosomal recessive MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinsonism, infantile, autosomal recessive MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label segawa syndrome, autosomal recessive -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, autosomal recessive -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605407 -MONDO:0011551 TH-deficient dopa-responsive dystonia skos:closeMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673535 MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catatonia, periodic MONDO:0011552 schizophrenia 10 skos:closeMatch OMIM:605419 schizophrenia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 15q15-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch OMIM:605428 deafness, autosomal recessive 26 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605428 -MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, nonsyndromic MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, multiple +MONDO:0011556 basal cell carcinoma, susceptibility to, 1 skos:closeMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal cell carcinoma, nonsyndromic MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 MONDO:0011558 Usher syndrome type 2C skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605472 -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 -MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605479 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholestasis, benign recurrent intrahepatic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign recurrent intrahepatic cholestasis type 2 semapv:RegularExpressionReplacement -MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605526 +MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 skos:closeMatch Orphanet:79304 Progressive familial intrahepatic cholestasis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535934 MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 6, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011561 Alzheimer disease 6 skos:closeMatch OMIM:605526 alzheimer disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasma beta-amyloid-42 level quantitative trait locus +MONDO:0011561 Alzheimer disease 6 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605526 MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605543 MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch OMIM:605544 fibromatosis, gingival, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011562 autosomal dominant Parkinson disease 4 skos:closeMatch OMIM:605543 parkinson disease 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 4, autosomal dominant lewy body semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605544 +MONDO:0011563 fibromatosis, gingival, 2 skos:closeMatch OMIM:605544 fibromatosis, gingival, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011564 cone-rod dystrophy 8 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605549 -MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome, protection against MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal obesity-metabolic syndrome quantitative trait locus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011565 metabolic syndrome X skos:closeMatch OMIM:605552 abdominal obesity-metabolic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic syndrome, protection against MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:closeMatch OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoms2 -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605582 -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement +MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011567 dilated cardiomyopathy 1K skos:closeMatch OMIM:605582 cardiomyopathy, dilated, 1k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1k semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605583 +MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 -MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605588 +MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605583 +MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 skos:closeMatch OMIM:605583 deafness, autosomal dominant 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 25 semapv:RegularExpressionReplacement MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854154 MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537990 +MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 skos:closeMatch Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605588 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537991 -MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605589 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854150 +MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605589 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 skos:closeMatch OMIM:605589 charcot-marie-tooth disease, axonal, iia 2b2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arcmt2b MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dgi1/dfna39 syndrome -MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605594 MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dgi1 syndrome +MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch Orphanet:166260 Dentinogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605594 MONDO:0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 skos:closeMatch OMIM:605594 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dfna39/dentinogenesis imperfecta type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011572 type 1 diabetes mellitus 18 skos:closeMatch OMIM:605598 iia 1 diabetes mellitus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605627 MONDO:0011575 cerebrooculonasal syndrome skos:closeMatch Orphanet:66625 Cerebrooculonasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854108 +MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605635 MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch OMIM:605635 hyperaldosteronism, familial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854107 -MONDO:0011576 familial hyperaldosteronism type II skos:closeMatch Orphanet:404 Familial hyperaldosteronism type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605635 -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 3, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prn1 -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptcprn -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, papillary, with papillary renal neoplasia -MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, papillary, with papillary renal neoplasia +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles +MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 3, autosomal dominant, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854104 MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605642 +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, papillary, with papillary renal neoplasia +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ptcprn +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, papillary, with papillary renal neoplasia +MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia skos:closeMatch OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prn1 MONDO:0011579 late-onset retinal degeneration skos:closeMatch OMIM:605670 late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, late-onset, autosomal dominant MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854065 MONDO:0011579 late-onset retinal degeneration skos:closeMatch Orphanet:67042 Late-onset retinal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605670 MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism skos:closeMatch Orphanet:1173 Cerebellar ataxia-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605672 -MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854063 MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605676 +MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854063 MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with woolly hair and keratoderma MONDO:0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma skos:closeMatch OMIM:605676 cardiomyopathy, dilated, with woolly hair and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, with woolly hair and keratoderma MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 skos:closeMatch Orphanet:401869 Multiple mitochondrial dysfunctions syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605711 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, hereditary, with cerebral hemorrhage, dutch variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, iowa variant +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, hereditary, with cerebral hemorrhage, dutch variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, flemish variant MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, italian variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324718 ABetaA21G amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324708 ABeta amyloidosis, Iowa type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:100006 ABeta amyloidosis, Dutch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 -MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324713 ABeta amyloidosis, Italian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324703 ABetaL34V amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 +MONDO:0011583 cerebral amyloid angiopathy, APP-related skos:closeMatch Orphanet:324723 ABeta amyloidosis, Arctic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605714 MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited cancer-predisposing syndrome due to biallelic brca2 mutations MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch Orphanet:319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605724 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fad1 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group d1 -MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch NCIT:C125705 Fanconi Anemia, Complementation Group D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 +MONDO:0011584 Fanconi anemia complementation group D1 skos:closeMatch OMIM:605724 fanconi anemia, complementation group d1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group d1 +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal hereditary motor neuropathy, jerash type MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:139552 Distal hereditary motor neuropathy, Jerash type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605726 -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 skos:closeMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 +MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch OMIM:605728 cataract 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, central saccular, with sutural opacities MONDO:0011587 cataract 25 skos:closeMatch OMIM:605728 cataract 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, central pouch-like, with sutural opacities -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 -MONDO:0011587 cataract 25 skos:closeMatch Orphanet:98985 Early-onset sutural cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 MONDO:0011587 cataract 25 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605728 -MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostaglandin-endoperoxide synthase type 1 deficiency, platelet semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011588 platelet-type bleeding disorder 12 skos:closeMatch OMIM:605735 bleeding disorder, platelet-type, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostaglandin-endoperoxide synthase type 1 deficiency, platelet semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605738 MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive, early-onset, pulverulent +MONDO:0011589 microphthalmia with coloboma 2 skos:closeMatch OMIM:605738 microphthalmia, isolated, with coloboma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605749 +MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive, early-onset, pulverulent MONDO:0011591 cataract 26 multiple types skos:closeMatch OMIM:605749 cataract 26, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 26, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011591 cataract 26 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605749 MONDO:0011592 exudative vitreoretinopathy 3 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605750 -MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch OMIM:605751 seizures, benign familial infantile, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 MONDO:0011594 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis skos:closeMatch OMIM:605756 ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, hypergonadotropic, type 20 type, with short stature and recurrent metabolic acidosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodysplasia, isolated congenital MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853984 +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch OMIM:605779 nail disorder, nonsyndromic congenital, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodysplasia, isolated congenital MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital onychodysplasia +MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853984 MONDO:0011595 nonsyndromic congenital nail disorder 7 skos:closeMatch Orphanet:79144 Isolated congenital onychodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605779 MONDO:0011596 dermatitis, atopic, 2 skos:closeMatch OMIM:605803 dermatitis, atopic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011596 dermatitis, atopic, 2 skos:closeMatch OMIM:605803 dermatitis, atopic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, with asthma MONDO:0011597 dermatitis, atopic, 3 skos:closeMatch OMIM:605804 dermatitis, atopic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011598 dermatitis, atopic, 4 skos:closeMatch OMIM:605805 dermatitis, atopic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605808 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537630 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853959 -MONDO:0011599 birdshot chorioretinopathy skos:closeMatch Orphanet:179 Birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605808 MONDO:0011599 birdshot chorioretinopathy skos:closeMatch OMIM:605808 birdshot chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bscr -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia1, formerly -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 -MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605809 +MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ia1, formerly MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 +MONDO:0011600 congenital myasthenic syndrome 4A skos:closeMatch OMIM:605809 myasthenic syndrome, congenital, 4a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853942 +MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch Orphanet:247598 Neonatal intrahepatic cholestasis due to citrin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch OMIM:605814 citrullinemia, iia ii, neonatal-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis, neonatal intrahepatic, caused by citrin deficiency MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch OMIM:605818 deafness, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605818 MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with rimmed vacuoles MONDO:0011603 GNE myopathy skos:closeMatch OMIM:617158 myopathy, distal, with rimmed vacuoles semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with rimmed vacuoles -MONDO:0011603 GNE myopathy skos:exactMatch NCIT:C176900 Nonaka Myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonaka myopathy -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with or without rimmed vacuoles -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonaka distal myopathy -MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, quadriceps-sparing +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy type 2, autosomal recessive, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, hereditary, autosomal recessive +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with or without rimmed vacuoles +MONDO:0011603 GNE myopathy skos:closeMatch OMIM:605820 nonaka myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inclusion body myopathy, quadriceps-sparing MONDO:0011603 GNE myopathy skos:closeMatch Orphanet:602 GNE myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605820 -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloocular syndrome -MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloocular syndrome +MONDO:0011603 GNE myopathy skos:exactMatch NCIT:C176900 Nonaka Myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nonaka myopathy MONDO:0011604 spondylo-ocular syndrome skos:closeMatch Orphanet:85194 Spondylo-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605822 -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605827 -MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853919 +MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloocular syndrome +MONDO:0011604 spondylo-ocular syndrome skos:closeMatch OMIM:605822 spondyloocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloocular syndrome MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basaloid follicular hamartoma syndrome, generalized, autosomal dominant MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch OMIM:605827 basaloid follicular hamartoma syndrome, generalized, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basaloid follicular hamartoma syndrome, generalized, autosomal dominant +MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605827 +MONDO:0011605 generalized basaloid follicular hamartoma syndrome skos:closeMatch Orphanet:168632 Generalized basaloid follicular hamartoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853919 MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605841 MONDO:0011607 narcolepsy 2, susceptibility to skos:closeMatch Orphanet:83465 Narcolepsy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label narcolepsy type 2 semapv:RegularExpressionReplacement -MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011608 dermatitis, atopic, 5 skos:closeMatch OMIM:605844 dermatitis, atopic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011609 dermatitis, atopic, 6 skos:closeMatch OMIM:605845 dermatitis, atopic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 -MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853892 MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dmgdh deficiency -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 -MONDO:0011612 glycine encephalopathy skos:closeMatch NCIT:C84937 Glycine Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, nonketotic -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853892 +MONDO:0011610 dimethylglycine dehydrogenase deficiency skos:closeMatch Orphanet:243343 Dimethylglycine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605850 +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy -MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, transient neonatal -MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 +MONDO:0011612 glycine encephalopathy skos:closeMatch NCIT:C84937 Glycine Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy +MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:407 Glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289860 Infantile glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 MONDO:0011612 glycine encephalopathy skos:closeMatch Orphanet:289857 Neonatal glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751748 +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, nonketotic +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, transient neonatal +MONDO:0011612 glycine encephalopathy skos:closeMatch OMIM:605899 glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, autosomal recessive early-onset, digenic, pink1/dj1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, late-onset, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch NCIT:C184990 Parkinson Disease 6, Early Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, early onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 6, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, autosomal recessive early-onset, digenic, pink1/dj1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605909 -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcs2 deficiency -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hmg-coa synthase deficiency -MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605911 +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcs2 deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch Orphanet:35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751532 +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency -MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605913 +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency skos:closeMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hmg-coa synthase deficiency MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853831 +MONDO:0011615 East Texas bleeding disorder skos:closeMatch Orphanet:391320 East Texas bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605913 MONDO:0011615 East Texas bleeding disorder skos:closeMatch OMIM:605913 bleeding disorder, east texas iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdet MONDO:0011616 holoprosencephaly 6 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605934 -MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605946 MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853825 +MONDO:0011620 metaphyseal dysplasia, Braun-Tinschert type skos:closeMatch Orphanet:85188 Metaphyseal dysplasia, Braun-Tinschert type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605946 MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605967 MONDO:0011621 acropectoral syndrome skos:closeMatch Orphanet:85203 Acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853812 MONDO:0011621 acropectoral syndrome skos:closeMatch OMIM:605967 acropectoral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar acropectoral syndrome @@ -18401,39 +18407,39 @@ MONDO:0011622 nephrolithiasis, uric acid, susceptibility to skos:closeMatch OMIM MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291329 MONDO:0011624 transaldolase deficiency skos:closeMatch Orphanet:101028 Transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606003 -MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyaid syndrome MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym taldo deficiency +MONDO:0011624 transaldolase deficiency skos:closeMatch OMIM:606003 transaldolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eyaid syndrome MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch OMIM:606012 deafness, autosomal dominant 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606012 MONDO:0011626 acromegaloid features, overgrowth, cleft palate, and hernia skos:closeMatch OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aoch +MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606053 MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism-related speech delay MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch OMIM:606053 intellectual developmental disorder with autism and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrase speech delay, autism-related -MONDO:0011627 autism, susceptibility to, 5 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606053 +MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268579 +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinemia, ketotic +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia with ketoacidosis and leukopenia +MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606054 MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056693 -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia with ketoacidosis and leukopenia -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycinemia, ketotic -MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym propionyl-coa carboxylase deficiency MONDO:0011628 propionic acidemia skos:closeMatch OMIM:606054 propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcc deficiency -MONDO:0011628 propionic acidemia skos:closeMatch Orphanet:35 Propionic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268579 MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853736 MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch Orphanet:79330 MOGS-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606056 MONDO:0011629 MOGS-congenital disorder of glycosylation skos:closeMatch OMIM:606056 congenital disorder of glycosylation, iia iib semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iib MONDO:0011630 retinitis pigmentosa 28 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606068 -MONDO:0011631 hemochromatosis type 4 skos:closeMatch OMIM:606069 hemochromatosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, autosomal dominant MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537249 -MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 +MONDO:0011631 hemochromatosis type 4 skos:closeMatch OMIM:606069 hemochromatosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemochromatosis, autosomal dominant MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853733 -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord and pharyngeal dysfunction with distal myopathy, formerly -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011631 hemochromatosis type 4 skos:closeMatch Orphanet:139491 Hemochromatosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606069 MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vocal cord and pharyngeal dysfunction with distal myopathy, formerly MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch OMIM:606070 amyotrophic lateral sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 +MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch Orphanet:600 Vocal cord and pharyngeal distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606070 MONDO:0011632 amyotrophic lateral sclerosis type 21 skos:closeMatch NCIT:C168755 Amyotrophic Lateral Sclerosis 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch Orphanet:99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606071 MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C skos:closeMatch OMIM:606071 hereditary motor and sensory neuropathy, iia 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -18443,291 +18449,291 @@ MONDO:0011634 rippling muscle disease skos:exactMatch OMIM:606072 rippling muscl MONDO:0011636 Diamond-Blackfan anemia 2 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606129 MONDO:0011637 Sener syndrome skos:closeMatch OMIM:606156 sener syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia and dilated virchow-robin spaces MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853578 +MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration with brain iron accumulation type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011638 neuroferritinopathy skos:closeMatch OMIM:606159 neurodegeneration with brain iron accumulation 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, adult-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606159 MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548080 -MONDO:0011638 neuroferritinopathy skos:closeMatch Orphanet:157846 Neuroferritinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606159 MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 -MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606170 MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853566 -MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitopatellar syndrome +MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation MONDO:0011640 genitopatellar syndrome skos:closeMatch OMIM:606170 genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitopatellar syndrome +MONDO:0011640 genitopatellar syndrome skos:closeMatch Orphanet:85201 Genitopatellar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606170 MONDO:0011641 baculum, congenital absence of skos:closeMatch OMIM:606174 baculum, congenital absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym os penis, congenital absence of -MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crat MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crat +MONDO:0011642 carnitine acetyltransferase deficiency skos:closeMatch OMIM:600184 CRAT semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crat MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad7 MONDO:0011647 Alzheimer disease 7 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606187 -MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnri +MONDO:0011647 Alzheimer disease 7 skos:closeMatch OMIM:606187 alzheimer disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad7 MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, radiation-induced +MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mnri MONDO:0011648 radiation-induced meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606190 MONDO:0011648 radiation-induced meningioma skos:closeMatch OMIM:606190 meningioma, radiation-induced semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, radiation-induced MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606217 MONDO:0011650 atrioventricular septal defect, susceptibility to, 2 skos:closeMatch OMIM:606217 atrioventricular septal defect, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect, partial, with heterotaxy syndrome MONDO:0011651 intellectual disability, short stature, facial anomalies, and joint dislocations skos:closeMatch OMIM:606220 intellectual developmental disorder with short stature, facial anomalies, and speech defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, short stature, facial anomalies, and joint dislocations -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telomeric type 22q13 monosomy syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853490 MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch NCIT:C157124 Phelan-McDermid Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:48652 Monosomy 22q13.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 -MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phelan-mcdermid syndrome -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606240 -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch OMIM:606232 phelan-mcdermid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phelan-mcdermid syndrome MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:188550 thyroid cancer, nonmedullary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch OMIM:606240 thyroid cancer, nonmedullary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid cancer, nonmedullary, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011653 thyroid cancer, nonmedullary, 3 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606240 +MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kondoh syndrome -MONDO:0011654 intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism skos:closeMatch OMIM:606242 mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606243 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft tissue sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606243 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018234 MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206657 -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001882 -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C8092 Childhood Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft tissue sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch NCIT:C3750 Alveolar Soft Part Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma -MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alveolar soft part sarcoma +MONDO:0011655 alveolar soft part sarcoma skos:closeMatch Orphanet:163699 Alveolar soft tissue sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma MONDO:0011655 alveolar soft part sarcoma skos:closeMatch OMIM:606243 alveolar soft part sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alveolar soft part sarcoma -MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011656 paget disease of bone 4 skos:closeMatch OMIM:606263 paget disease of bone 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paget disorder of bone type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch OMIM:606282 deafness, autosomal dominant 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606282 +MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606324 -MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 skos:closeMatch OMIM:606324 parkinson disease 7, autosomal recessive early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 7, autosomal recessive early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011659 heterotaxy, visceral, 3, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606325 -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22, with hypertrophic cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22, with hypertrophic cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch OMIM:606346 deafness, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 22 semapv:RegularExpressionReplacement MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 +MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606346 MONDO:0011662 pathological gambling skos:closeMatch OMIM:606349 gambling, pathologic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gambling, pathologic MONDO:0011662 pathological gambling skos:closeMatch OMIM:606349 gambling, pathologic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gambling, pathologic +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853396 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606353 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 +MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, juvenile MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, juvenile MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch OMIM:606353 primary lateral sclerosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, juvenile -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536416 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853396 -MONDO:0011663 juvenile primary lateral sclerosis skos:closeMatch Orphanet:247604 Juvenile primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606353 -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, alpha, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency +MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch OMIM:606367 immunodeficiency 41 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch Orphanet:169100 Immunodeficiency due to CD25 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 MONDO:0011667 maturity-onset diabetes of the young type 4 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606392 MONDO:0011668 maturity-onset diabetes of the young type 6 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606394 -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p16 deletion syndrome, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p21 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163690 Hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:163693 2p21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 -MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch Orphanet:238523 Atypical hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606407 +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p21 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011669 hypotonia-cystinuria syndrome skos:closeMatch OMIM:606407 hypotonia-cystinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homozygous type 2p16 deletion syndrome, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, classic-like -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848029 -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tnx deficiency MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, classic-like +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848029 MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, classic-like -MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch OMIM:606408 ehlers-danlos syndrome, classic-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds due to tnx deficiency +MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847987 MONDO:0011671 Huntington disease-like 2 skos:closeMatch Orphanet:98934 Huntington disease-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606438 -MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847973 MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606445 +MONDO:0011672 persistent polyclonal B-cell lymphocytosis skos:closeMatch Orphanet:300324 Persistent polyclonal B-cell lymphocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847973 MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606451 -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtb +MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 skos:closeMatch OMIM:606451 deafness, autosomal dominant 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmtdi1 -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b, with neutropenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant intermediate charcot-marie-tooth disorder type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtb MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch Orphanet:228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606482 -MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847896 +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b, with neutropenia +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate b, with neutropenia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B skos:closeMatch OMIM:606482 charcot-marie-tooth disease, dominant intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate b MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606483 -MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phace association +MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG skos:closeMatch Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847896 +MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phaces association MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phace association -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068032 -MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606519 MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847874 -MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phaces association +MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606519 +MONDO:0011676 PHACE syndrome skos:closeMatch Orphanet:42775 PHACE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068032 +MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phace association MONDO:0011676 PHACE syndrome skos:closeMatch OMIM:606519 phace association semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, giant congenital MONDO:0011678 homozygous 11P15-p14 deletion syndrome skos:closeMatch OMIM:606528 homozygous 11p15-p14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinism, infantile, with enteropathy and deafness +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242300 ichthyosis, congenital, autosomal recessive 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:242100 ichthyosis, congenital, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym collodion baby, self-healing -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 -MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606545 -MONDO:0011681 episodic ataxia type 4 skos:closeMatch OMIM:606552 episodic ataxia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, periodic vestibulocerebellar -MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847843 +MONDO:0011680 autosomal recessive congenital ichthyosis 3 skos:closeMatch OMIM:606545 ichthyosis, congenital, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606552 +MONDO:0011681 episodic ataxia type 4 skos:closeMatch Orphanet:79136 Episodic ataxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847843 +MONDO:0011681 episodic ataxia type 4 skos:closeMatch OMIM:606552 episodic ataxia, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, periodic vestibulocerebellar MONDO:0011682 episodic ataxia type 3 skos:closeMatch OMIM:606554 episodic ataxia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, episodic, with vertigo and tinnitus -MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606554 MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847839 +MONDO:0011682 episodic ataxia type 3 skos:closeMatch Orphanet:79135 Episodic ataxia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606554 MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847836 MONDO:0011683 oculocutaneous albinism type 4 skos:closeMatch Orphanet:79435 Oculocutaneous albinism type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606574 MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch OMIM:606579 vitiligo-associated multiple autoimmune disease susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym systemic lupus erythematosus, vitiligo-related MONDO:0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 skos:closeMatch NCIT:C26915 Vitiligo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitiligo MONDO:0011685 polysubstance abuse, susceptibility to skos:closeMatch OMIM:606581 polysubstance abuse, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drug addiction, susceptibility to -MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606593 MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847827 -MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606595 +MONDO:0011686 DNA ligase IV deficiency skos:closeMatch Orphanet:99812 LIG4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606593 MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847823 +MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F skos:closeMatch Orphanet:99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606595 +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fkrp-related MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 +MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fkrp-related MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), iia b, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606612 MONDO:0011691 amyotrophic lateral sclerosis type 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606640 MONDO:0011693 glaucoma, normal tension, susceptibility to skos:closeMatch OMIM:606657 glaucoma, normal tension, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, normal pressure, susceptibility to -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606658 -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 16 semapv:RegularExpressionReplacement -MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 16, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch OMIM:606658 spinocerebellar ataxia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch Orphanet:98769 Spinocerebellar ataxia type 15/16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606658 +MONDO:0011694 spinocerebellar ataxia type 15/16 skos:closeMatch NCIT:C150250 Spinocerebellar Ataxia Type 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 16 semapv:RegularExpressionReplacement MONDO:0011695 melanoma, uveal, susceptibility to, 1 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606660 MONDO:0011696 melanoma, uveal, susceptibility to, 2 skos:closeMatch Orphanet:39044 Uveal melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606661 -MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 -MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606664 +MONDO:0011697 Waardenburg syndrome type 2C skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606662 MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847720 +MONDO:0011698 glycine N-methyltransferase deficiency skos:closeMatch Orphanet:289891 Hypermethioninemia due to glycine N-methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606664 +MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch OMIM:606685 cardiomyopathy, dilated, 1l semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1l semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011702 dilated cardiomyopathy 1L skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606685 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018192 -MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphangioleiomyomatosis MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphangioleiomyomatosis -MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606690 +MONDO:0011705 lymphangioleiomyomatosis skos:exactMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lymphangioleiomyomatosis MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch NCIT:C38153 Lung Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label lung lymphangioleiomyomatosis -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopyramidal degeneration with supranuclear upgaze paresis and dementia -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 9, autosomal recessive, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 +MONDO:0011705 lymphangioleiomyomatosis skos:closeMatch Orphanet:538 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606690 MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 +MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch Orphanet:306674 Kufor-Rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606693 +MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 9, autosomal recessive, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011706 Kufor-Rakeb syndrome skos:closeMatch OMIM:606693 kufor-rakeb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallidopyramidal degeneration with supranuclear upgaze paresis and dementia MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174444 Deafness, Autosomal Dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606705 -MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 skos:closeMatch OMIM:606705 deafness, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 36 semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch OMIM:606708 split-hand/foot malformation 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch NCIT:C75002 Split-Hand/Foot Malformation Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label split-hand/foot malformation type 5 semapv:RegularExpressionReplacement MONDO:0011709 split hand-foot malformation 5 skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606708 MONDO:0011710 specific language impairment 1 skos:closeMatch OMIM:606711 specific language impairment 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011711 specific language impairment 2 skos:closeMatch OMIM:606712 specific language impairment 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606713 MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011712 van der Woude syndrome 2 skos:closeMatch OMIM:606713 van der woude syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van der woude syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome +MONDO:0011712 van der Woude syndrome 2 skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606713 MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome +MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606719 -MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma-pancreatic cancer syndrome MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma-pancreatic cancer syndrome +MONDO:0011713 melanoma-pancreatic cancer syndrome skos:exactMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma-pancreatic cancer syndrome MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606721 MONDO:0011715 Seckel syndrome 2 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606744 MONDO:0011716 acute hemorrhagic leukoencephalitis skos:closeMatch OMIM:606752 acute hemorrhagic leukoencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahl +MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606762 MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch OMIM:606762 hyperinsulinemic hypoglycemia, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011717 hyperinsulinism-hyperammonemia syndrome skos:closeMatch Orphanet:35878 Hyperinsulinism-hyperammonemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606762 MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606763 +MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 2, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011718 primary ciliary dyskinesia 2 skos:closeMatch OMIM:606763 ciliary dyskinesia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051066 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179349 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238198 +MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051066 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3179349 -MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606764 MONDO:0011719 gastrointestinal stromal tumor skos:closeMatch Orphanet:44890 Gastrointestinal stromal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d046152 MONDO:0011720 spermatogenic failure 3 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606766 +MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606768 +MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847532 MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, with anterior tibial onset MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch OMIM:606768 myopathy, distal, with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, with anterior tibial onset -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847532 -MONDO:0011721 distal myopathy with anterior tibial onset skos:closeMatch Orphanet:178400 Distal myopathy with anterior tibial onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606768 -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606772 -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, obesity, mandibular prognathism, and eye and skin anomalies -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847522 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847522 +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, obesity, mandibular prognathism, and eye and skin anomalies +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606772 MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome skos:closeMatch Orphanet:397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym momes syndrome -MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606773 MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535862 +MONDO:0011723 hemifacial myohyperplasia skos:closeMatch Orphanet:141148 Hemifacial myohyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606773 MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847501 -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:exactMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 -MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011387 +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606777 +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch NCIT:C168599 GLUT1 Deficiency Syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011724 encephalopathy due to GLUT1 deficiency skos:closeMatch OMIM:606777 glut1 deficiency syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose transport defect, blood-brain barrier MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931132 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011387 +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 +MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:79235 Crigler-Najjar syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536213 MONDO:0011725 Crigler-Najjar syndrome type 2 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606785 MONDO:0011726 peripheral arterial occlusive disease 1 skos:closeMatch OMIM:606787 peripheral arterial occlusive disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paod1 MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorexia nervosa, susceptibility to -MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anon MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anorexia nervosa, susceptibility to -MONDO:0011728 blepharospasm skos:exactMatch NCIT:C118723 Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm +MONDO:0011727 anorexia nervosa, susceptibility to, 1 skos:closeMatch OMIM:606788 anorexia nervosa, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anon MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharospasm, benign essential, susceptibility to MONDO:0011728 blepharospasm skos:closeMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharospasm, benign essential, susceptibility to +MONDO:0011728 blepharospasm skos:exactMatch NCIT:C118723 Blepharospasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label blepharospasm MONDO:0011729 stroke, susceptibility to, 1 skos:closeMatch OMIM:606799 stroke, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym strk1 -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 -MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606812 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538191 -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose/galactose malabsorption -MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 +MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606812 +MONDO:0011730 fumaric aciduria skos:closeMatch Orphanet:24 Fumaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936826 MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucose/galactose malabsorption +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosaccharide malabsorption MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066388 -MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital arthropathy-brachydactyly, familial +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch Orphanet:35710 Glucose-galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606824 +MONDO:0011731 glucose-galactose malabsorption skos:closeMatch OMIM:606824 glucose/galactose malabsorption semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucose/galactose malabsorption MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digital arthropathy-brachydactyly, familial +MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch OMIM:606835 digital arthropathy-brachydactyly, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label digital arthropathy-brachydactyly, familial MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606835 MONDO:0011732 familial digital arthropathy-brachydactyly skos:closeMatch Orphanet:85169 Familial digital arthropathy-brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847406 MONDO:0011733 parasomnia, sleep bruxism type skos:closeMatch OMIM:606840 parasomnia, sleep bruxism iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciomandibular myoclonus, nocturnal -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 3 semapv:RegularExpressionReplacement MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch OMIM:606843 immunodeficiency with hyper-igm, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 +MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 3 semapv:RegularExpressionReplacement MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch NCIT:C176416 Immunodeficiency with Hyper-IgM, Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with hyper-igm, type 3 MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:183663 Hyper-IgM syndrome with susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 +MONDO:0011735 hyper-IgM syndrome type 3 skos:closeMatch Orphanet:101090 Hyper-IgM syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606843 MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch OMIM:606852 parkinson disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder, age at onset of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011737 parkinson disease 10 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606852 +MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606854 -MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch Orphanet:101070 Bilateral frontoparietal polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847352 MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with neuronal migration defect MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral frontoparietal MONDO:0011738 bilateral frontoparietal polymicrogyria skos:closeMatch OMIM:606854 polymicrogyria, bilateral frontoparietal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral frontoparietal -MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606856 MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch OMIM:606856 pancreatic cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca1 +MONDO:0011739 pancreatic cancer, susceptibility to, 1 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606856 MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847319 MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch Orphanet:97286 Carney-Stratakis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606864 MONDO:0011740 Carney-Stratakis syndrome skos:closeMatch OMIM:606864 paraganglioma and gastric stromal sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paraganglioma and gastrointestinal stromal tumor @@ -18736,132 +18742,132 @@ MONDO:0011742 Hirschsprung disease, susceptibility to, 7 skos:closeMatch Orphane MONDO:0011743 Alzheimer disease 4 skos:closeMatch OMIM:606889 alzheimer disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011743 Alzheimer disease 4 skos:closeMatch OMIM:606889 alzheimer disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad4 MONDO:0011743 Alzheimer disease 4 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606889 -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular malformation, primary intraosseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation osseous MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemangioma, intraosseous -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847197 -MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606893 +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular malformation, primary intraosseous MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation, primary intraosseous +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606893 +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch Orphanet:140436 Primary intraosseous venous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847197 +MONDO:0011744 primary intraosseous venous malformation skos:closeMatch OMIM:606893 vascular malformation, primary intraosseous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular malformation osseous MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 MONDO:0011748 Usher syndrome type 1G skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606943 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 -MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847024 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yellow albinism +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847132 MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:352731 Oculocutaneous albinism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606952 +MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oca1-ts MONDO:0011749 oculocutaneous albinism type 1B skos:closeMatch Orphanet:79434 Oculocutaneous albinism type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537729 -MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copd, severe early-onset MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary disorder, chronic obstructive, severe early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011752 nephronophthisis 4 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606966 +MONDO:0011751 COPD, severe early onset skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copd, severe early-onset MONDO:0011752 nephronophthisis 4 skos:closeMatch OMIM:606966 nephronophthisis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephronophthisis type 4, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011752 nephronophthisis 4 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606966 +MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhha2 MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606984 -MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 skos:closeMatch OMIM:606984 hyperreninemic hypoaldosteronism, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fhha2 MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011755 senior-loken syndrome 3 skos:closeMatch OMIM:606995 senior-loken syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011755 senior-loken syndrome 3 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606995 -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606996 +MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011756 Senior-Loken syndrome 4 skos:closeMatch OMIM:606996 senior-loken syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011757 brachydactyly type A1B skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607004 MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 MONDO:0011758 Hurler syndrome skos:closeMatch Orphanet:93473 Hurler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607014 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis type ih/s +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056916 MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086431 -MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607015 -MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis type ih/s +MONDO:0011759 Hurler-Scheie syndrome skos:closeMatch Orphanet:93476 Hurler-Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056916 MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:93474 Scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 +MONDO:0011760 Scheie syndrome skos:closeMatch Orphanet:579 Mucopolysaccharidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607016 MONDO:0011760 Scheie syndrome skos:closeMatch OMIM:607016 scheie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mps v, formerly -MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607017 MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch OMIM:607017 deafness, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement -MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607039 +MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607017 MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607039 MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement -MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 skos:closeMatch OMIM:607039 deafness, autosomal recessive 22 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 22 semapv:RegularExpressionReplacement MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch OMIM:607060 parkinson disease 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011764 autosomal dominant Parkinson disease 8 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607060 -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microepiphyseal dysplasia, bilateral hereditary -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, matn3-related MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple epiphyseal dysplasia type 5 semapv:RegularExpressionReplacement MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535505 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607078 MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch Orphanet:93311 Multiple epiphyseal dysplasia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846843 -MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751325 +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microepiphyseal dysplasia, bilateral hereditary +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple epiphyseal dysplasia, matn3-related +MONDO:0011765 multiple epiphyseal dysplasia type 5 skos:closeMatch OMIM:607078 epiphyseal dysplasia, multiple, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607080 -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome skos:closeMatch Orphanet:168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751325 MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607084 +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym whirler, mouse, homolog of -MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607085 +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607084 +MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 skos:closeMatch OMIM:607084 deafness, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 31 semapv:RegularExpressionReplacement MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch OMIM:607085 myasthenia gravis with thymus hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myas1 +MONDO:0011768 myasthenia gravis with thymus hyperplasia skos:closeMatch Orphanet:589 Myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607085 MONDO:0011770 aortic aneurysm, familial thoracic 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607087 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn4 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn3 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846823 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846823 +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn4 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:139547 Distal spinal muscular atrophy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607088 -MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011771 distal spinal muscular atrophy type 3 skos:closeMatch OMIM:607088 spinal muscular atrophy, distal, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iid MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931009 MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch Orphanet:79332 B4GALT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607091 -MONDO:0011772 B4GALT1-congenital disorder of glycosylation skos:closeMatch OMIM:607091 congenital disorder of glycosylation, iia iid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iid -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anauxetic dysplasia -MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846796 MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 +MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anauxetic dysplasia type 1 semapv:RegularExpressionReplacement +MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym anauxetic dysplasia MONDO:0011773 anauxetic dysplasia skos:exactMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anauxetic dysplasia -MONDO:0011773 anauxetic dysplasia skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538256 MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement -MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch OMIM:607101 deafness, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 30 semapv:RegularExpressionReplacement MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607101 -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal cancer MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal cancer MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nasopharyngeal carcinoma -MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607107 +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym npca +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch NCIT:C3871 Nasopharyngeal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nasopharyngeal carcinoma +MONDO:0011775 nasopharyngeal carcinoma, susceptibility to, 1 skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607107 MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryopyrin-associated periodic syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011776 CINCA syndrome skos:closeMatch OMIM:607115 cinca syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem inflammatory disorder, neonatal-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011776 CINCA syndrome skos:closeMatch Orphanet:1451 CINCA syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607115 +MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011777 Alzheimer disease 8 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607116 MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad8 -MONDO:0011777 Alzheimer disease 8 skos:closeMatch OMIM:607116 alzheimer disease 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with multiple epiphyseal dysplasia and distinctive facies MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607131 +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-gazali-bakalinova syndrome +MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly with multiple epiphyseal dysplasia and distinctive facies MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch OMIM:607131 al-gazali-bakalinova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-gazali-bakalinova syndrome -MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type skos:closeMatch Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607131 MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities skos:closeMatch OMIM:607132 laryngeal atresia, encephalocele, and limb deformities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lel MONDO:0011780 specific language impairment 3 skos:closeMatch OMIM:607134 specific language impairment 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym specific language impairment quantitative trait locus on chromosome type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846707 MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607136 -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931001 -MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch OMIM:607143 congenital disorder of glycosylation, iia ig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ig +MONDO:0011781 spinocerebellar ataxia type 17 skos:closeMatch Orphanet:98759 Spinocerebellar ataxia type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846707 MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607143 +MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch OMIM:607143 congenital disorder of glycosylation, iia ig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ig +MONDO:0011783 ALG12-congenital disorder of glycosylation skos:closeMatch Orphanet:79324 ALG12-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931001 MONDO:0011784 Moyamoya disease 2 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607151 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607152 MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846685 @@ -18871,770 +18877,770 @@ MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 A MONDO:0011785 hereditary spastic paraplegia 19 skos:closeMatch Orphanet:100999 Autosomal dominant spastic paraplegia type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536856 MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym allergic rhinitis MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label allergic rhinitis -MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic rhinitis -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label allergic rhinitis -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label seasonal allergic rhinitis -MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:exactMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym allergic rhinitis MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.89 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92188 Seasonal Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label seasonal allergic rhinitis MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10CM:J30.8 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement +MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C92189 Perennial Allergic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label perennial allergic rhinitis MONDO:0011786 allergic rhinitis skos:closeMatch NCIT:C34987 Atopic Rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label atopic rhinitis MONDO:0011786 allergic rhinitis skos:closeMatch OMIM:607154 allergic rhinitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alrh -MONDO:0011786 allergic rhinitis skos:narrowMatch ICD10WHO:J30.3 Other allergic rhinitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym allergic rhinitis semapv:RegularExpressionReplacement -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related -MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2i MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607155 +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch Orphanet:34515 FKRP-related limb-girdle muscular dystrophy R9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2i +MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I skos:closeMatch OMIM:607155 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies syndrome with cloverleaf skull +MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple congenital anomalies syndrome with cloverleaf skull MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846671 MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch Orphanet:93267 Cloverleaf skull-multiple congenital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607161 -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple congenital anomalies syndrome with cloverleaf skull -MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome skos:closeMatch OMIM:607161 multiple congenital anomalies syndrome with cloverleaf skull semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies syndrome with cloverleaf skull MONDO:0011789 familial meningioma skos:closeMatch Orphanet:263662 Familial multiple meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607174 -MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, familial, susceptibility to MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningioma, familial, susceptibility to -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 +MONDO:0011789 familial meningioma skos:closeMatch OMIM:607174 meningioma, familial, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningioma, familial, susceptibility to +MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607196 MONDO:0011790 Amish lethal microcephaly skos:closeMatch OMIM:607196 microcephaly, amish iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 3 (microcephaly type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846648 -MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607196 MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to dyshormonogenesis, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormonogenesis, genetic defect in, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011790 Amish lethal microcephaly skos:closeMatch Orphanet:99742 Amish lethal microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538247 MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607200 +MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hormonogenesis, genetic defect in, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011792 thyroid dyshormonogenesis 6 skos:closeMatch OMIM:607200 thyroid dyshormonogenesis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to dyshormonogenesis, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011793 celiac disease, susceptibility to, 5 skos:closeMatch OMIM:607202 celiac disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, total, with microcephaly MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anonychia, total, with microcephaly +MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch OMIM:607214 anonychia, total, with microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia, total, with microcephaly MONDO:0011795 anonychia-microcephaly syndrome skos:closeMatch Orphanet:1094 Anonychia-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607214 MONDO:0011796 epilepsy, partial, with pericentral spikes skos:closeMatch OMIM:607221 epilepsy, partial, with pericentral spikes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epps -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paralysis, infantile-onset ascending MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paralysis, infantile-onset ascending -MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607225 +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch OMIM:607225 spastic paralysis, infantile-onset ascending semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paralysis, infantile-onset ascending MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931441 +MONDO:0011797 infantile-onset ascending hereditary spastic paralysis skos:closeMatch Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607225 MONDO:0011798 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration skos:closeMatch OMIM:607236 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harp syndrome -MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607239 MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch OMIM:607239 deafness, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607239 MONDO:0011800 glioma susceptibility 4 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607248 -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 1 -MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846574 MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607250 -MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:606923 HCAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 -MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607258 +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846574 +MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 skos:closeMatch Orphanet:94124 Spinocerebellar ataxia with axonal neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with axonal neuropathy type 1 MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:607258 hypercalciuria, absorptive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 -MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846564 -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607259 +MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607258 +MONDO:0011802 hypercalciuria, absorptive, 1 skos:closeMatch OMIM:606923 HCAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hca1 +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711370 +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846564 MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch OMIM:607259 spastic paraplegia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011803 hereditary spastic paraplegia 7 skos:closeMatch Orphanet:99013 Spastic paraplegia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607259 +MONDO:0011803 hereditary spastic paraplegia 7 skos:exactMatch NCIT:C181657 Spastic Paraplegia 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spastic paraplegia type 7 semapv:RegularExpressionReplacement MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607271 MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B skos:closeMatch OMIM:607271 caspase 8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceds -MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteofibrous dysplasia, susceptibility to MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteofibrous dysplasia, susceptibility to -MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 +MONDO:0011806 osteofibrous dysplasia skos:closeMatch OMIM:607278 osteofibrous dysplasia, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteofibrous dysplasia, susceptibility to MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:488265 Osteofibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 -MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccnp +MONDO:0011806 osteofibrous dysplasia skos:closeMatch Orphanet:157808 Congenital pseudoarthrosis of the limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607278 +MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 27, nuclear progressive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011808 cataract 27 skos:closeMatch OMIM:607304 cataract 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ccnp MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 -MONDO:0011808 cataract 27 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 -MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis +MONDO:0011808 cataract 27 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607304 MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846496 -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with saccadic intrusions -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011810 horizontal gaze palsy with progressive scoliosis skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with saccadic intrusions MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607317 +MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch Orphanet:95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846492 MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome skos:closeMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 24, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:959 Acro-renal-ocular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 MONDO:0011812 Duane-radial ray syndrome skos:closeMatch Orphanet:93293 Okihiro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607323 MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607324 MONDO:0011813 polydactyly, postaxial, type A3 skos:closeMatch OMIM:607324 polydactyly, postaxial, iia a3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa3 -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:300040 SMC1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:300040 SMC1A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc1 MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch OMIM:607326 smith-mccort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011815 hypertension, essential, susceptibility to, 3 skos:closeMatch OMIM:607329 hypertension, essential, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt3 -MONDO:0011816 lathosterolosis skos:closeMatch OMIM:607330 lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc5d deficiency -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 +MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846421 MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607330 MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 -MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846421 +MONDO:0011816 lathosterolosis skos:closeMatch Orphanet:46059 Lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537880 +MONDO:0011816 lathosterolosis skos:closeMatch OMIM:607330 lathosterolosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc5d deficiency MONDO:0011817 coronary heart disease, susceptibility to, 1 skos:closeMatch OMIM:607339 coronary heart disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds1 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal cortical dysplasia of taylor -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor, dysplasia only MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 -MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal cortical dysplasia of taylor +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor, dysplasia only MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor without balloon cells MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia of taylor with balloon cells +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch OMIM:607341 focal cortical dysplasia, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607346 -MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269001 Isolated focal cortical dysplasia type IIa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:268994 Isolated focal cortical dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:65683 Isolated focal cortical dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 +MONDO:0011818 isolated focal cortical dysplasia type II skos:closeMatch Orphanet:269008 Isolated focal cortical dysplasia type IIb semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607341 MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch OMIM:607346 spinocerebellar ataxia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537198 +MONDO:0011819 spinocerebellar ataxia type 19/22 skos:closeMatch Orphanet:98772 Spinocerebellar ataxia type 19/22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607346 MONDO:0011821 Meckel syndrome, type 3 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607361 -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 -MONDO:0011822 Bartter disease type 3 skos:closeMatch OMIM:607364 bartter syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, classic -MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846343 +MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:93605 Bartter syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 +MONDO:0011822 Bartter disease type 3 skos:closeMatch OMIM:607364 bartter syndrome, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bartter syndrome, classic +MONDO:0011822 Bartter disease type 3 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607364 MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, juvenile-onset MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch OMIM:607371 dystonia, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, juvenile-onset MONDO:0011823 developmental malformations-deafness-dystonia syndrome skos:closeMatch Orphanet:79107 Developmental malformations-deafness-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607371 MONDO:0011824 autism, susceptibility to, 8 skos:closeMatch OMIM:607373 autism, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auts2, formerly +MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch NCIT:C123728 Familial Glucocorticoid Deficiency Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607398 -MONDO:0011826 glucocorticoid deficiency 2 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt2 +MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10 deficiency, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607426 MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ubiquinone deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, classic -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607426 +MONDO:0011829 coenzyme Q10 deficiency, primary, 1 skos:closeMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coq10 deficiency, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subcortical band heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly sequence, isolated MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly, classic +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:102009 Classic lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 1 semapv:RegularExpressionReplacement +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch Orphanet:95232 Lissencephaly due to LIS1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607432 +MONDO:0011830 lissencephaly due to LIS1 mutation skos:closeMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subcortical band heterotopia MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607450 -MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 +MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 skos:closeMatch OMIM:607450 arrhythmogenic right ventricular dysplasia, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement -MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843891 -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607454 +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch OMIM:607453 deafness, autosomal dominant 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607453 MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 -MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch OMIM:607454 spinocerebellar ataxia 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537200 -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843884 +MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement +MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607454 +MONDO:0011833 spinocerebellar ataxia type 21 skos:closeMatch Orphanet:98773 Spinocerebellar ataxia type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843891 MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch OMIM:607458 spinocerebellar ataxia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensorimotor neuropathy with ataxia, autosomal dominant -MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607458 MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537197 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy +MONDO:0011834 spinocerebellar ataxia type 18 skos:closeMatch Orphanet:98771 Spinocerebellar ataxia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843884 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, with sensory ataxic neuropathy -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with epilepsy +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:402082 Progressive myoclonic epilepsy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia with epilepsy MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607459 +MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:closeMatch Orphanet:70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843851 MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hurthle cell thyroid neoplasia MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid carcinoma, hurthle cell MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch OMIM:607464 thyroid carcinoma, hurthle cell semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid carcinoma, hurthle cell MONDO:0011836 thyroid Hurthle cell carcinoma skos:closeMatch Orphanet:146 Differentiated thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607464 MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch Orphanet:98434 Hereditary combined deficiency of vitamin K-dependent clotting factors semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 -MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843816 MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607475 -MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy +MONDO:0011838 Bothnia retinal dystrophy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843816 MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label newfoundland rod-cone dystrophy -MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011839 Newfoundland cone-rod dystrophy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch OMIM:607482 cardiomyopathy, dilated, 1m semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011840 dilated cardiomyopathy 1M skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607482 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, thiamine-responsive -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, biotin-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843807 -MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537658 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:65284 Biotin-thiamine-responsive basal ganglia disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843807 MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch Orphanet:199348 Thiamine-responsive encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607483 -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with ubiquitin-positive inclusions +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia disorder, biotin-responsive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 2 (biotin- or thiamine-responsive type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011841 biotin-responsive basal ganglia disease skos:closeMatch OMIM:607483 thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, thiamine-responsive MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dementia, hereditary dysphasic disinhibition -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, grn-related +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphasia, primary progressive -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, grn-related -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal lobar degeneration with tdp43 inclusions, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia, ubiquitin-positive -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, grn-related -MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal lobar degeneration with tdp43 inclusions, grn-related +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, grn-related +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with ubiquitin-positive inclusions +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch OMIM:607485 frontotemporal lobar degeneration with tdp43 inclusions, grn-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, grn-related MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 -MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607485 MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011843 hypertrophic cardiomyopathy 25 skos:closeMatch OMIM:607487 cardiomyopathy, familial hypertrophic, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011844 myoclonic dystonia 15 skos:closeMatch OMIM:607488 dystonia 15, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 15, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011848 headache associated with sexual activity skos:closeMatch OMIM:607504 headache associated with sexual activity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign sexual headache -MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label psoriatic arthritis, susceptibility to +MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to MONDO:0011849 psoriatic arthritis skos:closeMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011850 migraine with or without aura, susceptibility to, 5 skos:closeMatch OMIM:607508 migraine with or without aura, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr5 -MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607516 MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine, familial hemiplegic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toenail dystrophy, isolated -MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011851 migraine with or without aura, susceptibility to, 6 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607516 MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 +MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011852 nonsyndromic congenital nail disorder 8 skos:closeMatch OMIM:607523 nail disorder, nonsyndromic congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toenail dystrophy, isolated MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275685 -MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607541 MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 +MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535474 +MONDO:0011855 granular corneal dystrophy type II skos:closeMatch Orphanet:98963 Granular corneal dystrophy type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607541 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843706 +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch OMIM:607543 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 +MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch Orphanet:168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 MONDO:0011857 atrial fibrillation, familial, 3 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607554 MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:607565 spastic paraplegia, ataxia, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar MONDO:0011858 spastic paraplegia, ataxia, and intellectual disability skos:closeMatch OMIM:617627 SPAAR semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spar MONDO:0011860 leprosy, susceptibility to, 2 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607572 MONDO:0011861 breath-holding Spells skos:closeMatch OMIM:607578 breath-holding spells semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bhs -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843569 -MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607584 MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch OMIM:607584 spastic paraplegia 24, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 24, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607584 +MONDO:0011862 hereditary spastic paraplegia 24 skos:closeMatch Orphanet:101004 Autosomal recessive spastic paraplegia type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843569 MONDO:0011863 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:closeMatch OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpcqtl19 -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable -MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to icos defect -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607596 +MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 +MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch OMIM:607594 immunodeficiency, common variable, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607596 +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with anterior horn cell disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia with infantile spinal muscular atrophy +MONDO:0011866 pontocerebellar hypoplasia type 1A skos:closeMatch OMIM:607596 pontocerebellar hypoplasia, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch1 MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607598 MONDO:0011868 lethal congenital contracture syndrome 2 skos:closeMatch Orphanet:137776 Lethal congenital contracture syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843478 MONDO:0011870 annular epidermolytic ichthyosis skos:closeMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, cyclic, with epidermolytic hyperkeratosis -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052537 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607616 -MONDO:0011871 Niemann-Pick disease type B skos:closeMatch OMIM:607616 niemann-pick disease, iia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, with visceral involvement and rapid progression semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch Orphanet:77293 Chronic visceral acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268243 MONDO:0011871 Niemann-Pick disease type B skos:closeMatch NCIT:C126866 Niemann-Pick Disease, Type B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011871 Niemann-Pick disease type B skos:closeMatch OMIM:607616 niemann-pick disease, iia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym niemann-pick disorder, intermediate, with visceral involvement and rapid progression semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 +MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch OMIM:607624 griscelli syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paid syndrome MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868679 MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:79477 Griscelli syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537302 -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607624 -MONDO:0011872 Griscelli syndrome type 2 skos:closeMatch OMIM:607624 griscelli syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paid syndrome -MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607625 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis +MONDO:0011873 Niemann-Pick disease, type C2 skos:closeMatch NCIT:C126865 Niemann-Pick Disease, Type C2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label niemann-pick disorder, type c2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ilvasc MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis-sclerosing cholangitis syndrome MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607626 +MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843355 -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch OMIM:607626 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis-sclerosing cholangitis syndrome -MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome skos:closeMatch Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nisch syndrome +MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch OMIM:607628 epilepsy, idiopathic generalized, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607628 -MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement +MONDO:0011876 juvenile absence epilepsy skos:closeMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement +MONDO:0011876 juvenile absence epilepsy skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epilepsy, juvenile absence, susceptibility to, type 1 semapv:RegularExpressionReplacement MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607634 +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843330 -MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7b +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch OMIM:607634 osteopetrosis, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011877 autosomal dominant osteopetrosis 1 skos:closeMatch Orphanet:2783 Autosomal dominant osteopetrosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536056 MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch OMIM:607641 neuronopathy, distal hereditary motor, iia 7b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn7b MONDO:0011879 neuronopathy, distal hereditary motor, type 7B skos:closeMatch Orphanet:139589 Distal hereditary motor neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607641 -MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic nail, with icam1 deficiency MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcnc +MONDO:0011880 candidiasis, familial, 3 skos:closeMatch OMIM:607644 candidiasis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic nail, with icam1 deficiency MONDO:0011880 candidiasis, familial, 3 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607644 -MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch OMIM:607654 keratosis palmoplantaris striata 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607655 -MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin fragility-woolly hair syndrome +MONDO:0011881 keratosis palmoplantaris striata 3 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607654 MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin fragility-woolly hair syndrome -MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607655 skin fragility-woolly hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin fragility-woolly hair syndrome +MONDO:0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607655 MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607656 MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch OMIM:607656 curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs +MONDO:0011883 Curly hair - acral keratoderma - caries syndrome skos:closeMatch Orphanet:307766 Curly hair-acral keratoderma-caries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chacs +MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843285 MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607658 MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome -MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome skos:closeMatch OMIM:607658 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hopp syndrome -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843273 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069039 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536922 -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubulointerstitial nephritis with uveitis -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute tubulointerstitial nephritis +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069034 +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843273 MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubulointerstitial nephritis with uveitis -MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069039 -MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt13 type +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute tubulointerstitial nephritis +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch OMIM:607665 tubulointerstitial nephritis with uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubulointerstitial nephritis with uveitis +MONDO:0011885 tubulointerstitial nephritis and uveitis syndrome skos:closeMatch Orphanet:91500 Tubulointerstitial nephritis and uveitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607665 MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607671 -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843256 -MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607676 +MONDO:0011886 torsion dystonia 13 skos:closeMatch Orphanet:98807 Primary dystonia, DYT13 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt13 type +MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011886 torsion dystonia 13 skos:closeMatch OMIM:607671 dystonia 13, torsion, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 13, torsion, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011888 immunodeficiency 67 skos:closeMatch OMIM:607676 immunodeficiency 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym invasive pneumococcal disorder, protection against semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607676 +MONDO:0011888 immunodeficiency 67 skos:closeMatch Orphanet:70592 Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843256 MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2i semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011889 Charcot-Marie-Tooth disease type 2I skos:closeMatch Orphanet:99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607677 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607678 -MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537985 +MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843247 +MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch Orphanet:101084 Charcot-Marie-Tooth disease type 1D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607678 MONDO:0011890 Charcot-Marie-Tooth disease type 1D skos:closeMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn type 1d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch OMIM:607681 febrile seizures, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 2 semapv:RegularExpressionReplacement -MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 MONDO:0011891 febrile seizures, familial, 8 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607681 MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607682 -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch OMIM:607683 deafness, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011893 autosomal dominant nonsyndromic hearing loss 52 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607683 MONDO:0011894 Charcot-Marie-Tooth disease type 2E skos:closeMatch Orphanet:99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607684 MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607685 MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch Orphanet:3260 Idiopathic hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206141 -MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypereosinophilic syndrome, idiopathic MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypereosinophilic syndrome, idiopathic +MONDO:0011895 idiopathic hypereosinophilic syndrome skos:closeMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypereosinophilic syndrome, idiopathic MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607688 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, delayed dentition, and hypomyelination -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4h syndrome -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentoleukoencephalopathy +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, delayed dentition, and hypomyelination +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447896 Tremor-ataxia-central hypomyelination syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 -MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2 with vocal cord paresis, autosomal recessive -MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607694 +MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome skos:closeMatch Orphanet:77295 Odontoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dentoleukoencephalopathy MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607706 -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tosti syndrome +MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive +MONDO:0011898 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmt2 with vocal cord paresis, autosomal recessive +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch NCIT:C176939 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501846 MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with loose anagen hair type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tosti syndrome +MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501846 MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011900 porokeratosis 4, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607728 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843173 -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive -MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with pyramidal features, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607731 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch Orphanet:101102 Charcot-Marie-Tooth disease type 2H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535415 +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with pyramidal features, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H skos:closeMatch OMIM:607731 charcot-marie-tooth disease, axonal, iia 2h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:101085 Charcot-Marie-Tooth disease type 1F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843164 MONDO:0011902 Charcot-Marie-Tooth disease type 1F skos:closeMatch Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607734 MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2j semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011903 Charcot-Marie-Tooth disease type 2J skos:closeMatch Orphanet:99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607736 -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial infantile convulsions -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial neonatal-infantile -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 +MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch OMIM:607745 seizures, benign familial infantile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535442 MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch Orphanet:79301 Congenital bile acid synthesis defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607765 -MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843096 +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011906 congenital bile acid synthesis defect 1 skos:closeMatch OMIM:607765 bile acid synthesis defect, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607778 -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607785 +MONDO:0011907 acrocapitofemoral dysplasia skos:closeMatch Orphanet:63446 Acrocapitofemoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843096 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, juvenile myelomonocytic MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelomonocytic +MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607785 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349639 MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023249 -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, juvenile myelomonocytic -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch OMIM:607785 juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelomonocytic -MONDO:0011908 juvenile myelomonocytic leukemia skos:closeMatch Orphanet:86834 Juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054429 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843075 MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch Orphanet:100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607791 -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtd MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate d +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtd +MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D skos:closeMatch OMIM:607791 charcot-marie-tooth disease, dominant intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843042 MONDO:0011911 craniolenticulosutural dysplasia skos:closeMatch Orphanet:50814 Craniolenticulosutural dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607812 MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement -MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch OMIM:607821 deafness, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 37 semapv:RegularExpressionReplacement MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607821 MONDO:0011913 Alzheimer disease 3 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607822 MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 3, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and apraxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3, with spastic paraparesis and unusual plaques semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011913 Alzheimer disease 3 skos:closeMatch OMIM:607822 alzheimer disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011914 hypotrichosis-lymphedema-telangiectasia syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607823 -MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch OMIM:607829 mitral valve prolapse 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011915 mitral valve prolapse, myxomatous 2 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607829 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 -MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607831 +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 +MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 3, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anxiety MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anxiety MONDO:0011918 anxiety skos:closeMatch OMIM:607834 anxiety semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym harm avoidance +MONDO:0011918 anxiety skos:exactMatch NCIT:C26696 Anxiety semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anxiety MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 1p-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011919 autoimmune disease, susceptibility to, 1 skos:closeMatch OMIM:607836 autoimmune disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement +MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch OMIM:607841 deafness, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 48 semapv:RegularExpressionReplacement MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607841 MONDO:0011921 aural atresia, congenital skos:closeMatch OMIM:607842 aural atresia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aural atresia, congenital, with hyposmia MONDO:0011921 aural atresia, congenital skos:closeMatch Orphanet:141074 External auditory canal aplasia/hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607842 -MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607847 MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842930 +MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults skos:closeMatch Orphanet:2688 Adult idiopathic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607847 MONDO:0011923 osteoarthritis susceptibility 3 skos:closeMatch OMIM:607850 osteoarthritis susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of knee/hip MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pand2 MONDO:0011924 panic disorder 2 skos:closeMatch OMIM:607853 panic disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 9q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to partial lama2 deficiency MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy type 1a +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch OMIM:607855 muscular dystrophy, congenital merosin-deficient, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital merosin-deficient, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607855 MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1263858 +MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital muscular dystrophy type 1a MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A skos:closeMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lama2-related muscular dystrophy MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607859 -MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346073 MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 +MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346073 MONDO:0011927 tufted angioma skos:closeMatch Orphanet:1063 Tufted angioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536924 -MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, tufted MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioma, tufted -MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 +MONDO:0011927 tufted angioma skos:closeMatch OMIM:607859 angioma, tufted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioma, tufted MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842884 +MONDO:0011928 caudal duplication skos:closeMatch Orphanet:1756 Caudal duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607864 MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal duplication anomaly MONDO:0011928 caudal duplication skos:closeMatch OMIM:607864 caudal duplication anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal duplication anomaly -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosomy type 1p36 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842870 +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607872 +MONDO:0011929 chromosome 1p36 deletion syndrome skos:closeMatch OMIM:607872 chromosome 1p36 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monosomy type 1p36 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonus and epilepsy, autosomal dominant -MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607876 MONDO:0011930 epilepsy, familial adult myoclonic, 2 skos:closeMatch OMIM:607876 epilepsy, familial adult myoclonic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htl -MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, localized, autosomal recessive MONDO:0011932 hypotrichosis 6 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607903 +MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis, localized, autosomal recessive +MONDO:0011932 hypotrichosis 6 skos:closeMatch OMIM:607903 hypotrichosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym htl MONDO:0011933 ALG2-congenital disorder of glycosylation skos:closeMatch Orphanet:79326 ALG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607906 -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607907 -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell fibroblastoma -MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392784 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057070 MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch NCIT:C4700 Giant Cell Fibroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label giant cell fibroblastoma +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607907 +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch Orphanet:31112 Dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392784 +MONDO:0011934 dermatofibrosarcoma protuberans skos:closeMatch OMIM:607907 dermatofibrosarcoma protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant cell fibroblastoma +MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch OMIM:607921 retinitis pigmentosa 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch NCIT:C123330 Macular Degeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration -MONDO:0011935 retinitis pigmentosa 30 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607921 -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with brain and digit developmental anomalies +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864689 MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch OMIM:607932 microphthalmia, syndromic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch Orphanet:139471 Microphthalmia with brain and digit anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864689 MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis bullosa of siemens-like MONDO:0011937 peeling skin syndrome 4 skos:closeMatch OMIM:607936 peeling skin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, exfoliative, autosomal recessive MONDO:0011937 peeling skin syndrome 4 skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607936 MONDO:0011938 atrial septal defect 2 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607941 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535782 -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432222 +MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation skos:closeMatch Orphanet:1855 Spondyloenchondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607944 MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mycobacterium tuberculosis, protection against MONDO:0011940 mycobacterium tuberculosis, susceptibility to skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607948 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842704 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:85212 Fetal Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 MONDO:0011945 Gaucher disease perinatal lethal skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608013 -MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842691 MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608022 +MONDO:0011946 diaphanospondylodysostosis skos:closeMatch Orphanet:66637 Diaphanospondylodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842691 +MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch with optic atrophy MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608027 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842687 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch Orphanet:97249 Pontocerebellar hypoplasia type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548072 MONDO:0011948 pontocerebellar hypoplasia type 3 skos:exactMatch NCIT:C71920 Clam semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clam -MONDO:0011948 pontocerebellar hypoplasia type 3 skos:closeMatch OMIM:608027 pontocerebellar hypoplasia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pch with optic atrophy -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym norwegian infantile onset ataxia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, infantile nonprogressive, autosomal recessive +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842676 MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia skos:closeMatch Orphanet:284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608029 -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch NCIT:C168750 Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 6 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 6 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:exactMatch NCIT:C168750 Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 6, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 +MONDO:0011951 amyotrophic lateral sclerosis type 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608030 MONDO:0011952 amyotrophic lateral sclerosis type 7 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608031 MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute necrotizing, susceptibility to -MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608033 MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch Orphanet:88619 Familial acute necrotizing encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608033 MONDO:0011953 familial acute necrotizing encephalopathy skos:closeMatch OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608035 MONDO:0011955 diabetes mellitus, noninsulin-dependent, 4 skos:closeMatch OMIM:608036 iia 2 diabetes mellitus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noninsulin-dependent diabetes mellitus type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch Orphanet:319640 Retinal macular dystrophy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608051 -MONDO:0011957 retinal macular dystrophy type 2 skos:closeMatch OMIM:608051 macular dystrophy, retinal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, retinal, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085077 -MONDO:0011959 sweet syndrome skos:closeMatch OMIM:603671 acromelic frontonasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000748 -MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilic dermatosis, acute febrile -MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gomm-button disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutrophilic dermatosis, acute febrile +MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophilic dermatosis, acute febrile +MONDO:0011959 sweet syndrome skos:closeMatch OMIM:603671 acromelic frontonasal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd MONDO:0011959 sweet syndrome skos:closeMatch OMIM:608068 neutrophilic dermatosis, acute febrile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000748 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085077 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:1827 Acromelic frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym afnd +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608068 +MONDO:0011959 sweet syndrome skos:closeMatch Orphanet:3243 Sweet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016463 MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd11 MONDO:0011960 schizophrenia 11 skos:closeMatch OMIM:608078 schizophrenia 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 10q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608088 MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842586 -MONDO:0011963 Joubert syndrome 2 skos:closeMatch OMIM:608091 joubert syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 +MONDO:0011961 hereditary sensory and autonomic neuropathy type 1B skos:closeMatch Orphanet:139564 Hereditary sensory and autonomic neuropathy type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608088 MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 +MONDO:0011963 Joubert syndrome 2 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608091 +MONDO:0011963 Joubert syndrome 2 skos:closeMatch OMIM:608091 joubert syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellooculorenal syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608093 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch Orphanet:86309 DPAGT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931004 MONDO:0011964 DPAGT1-congenital disorder of glycosylation skos:closeMatch OMIM:608093 congenital disorder of glycosylation, iia ij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ij +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftle +MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608096 -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch OMIM:608096 epilepsy, familial temporal lobe, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftle -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial temporal lobe epilepsy -MONDO:0011965 familial temporal lobe epilepsy 2 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536956 -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 -MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, autosomal recessive +MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 +MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608097 +MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608098 -MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalinopathy, primary +MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies skos:closeMatch OMIM:608098 periventricular nodular heterotopia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608099 -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931002 -MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch OMIM:608104 congenital disorder of glycosylation, iia ih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ih +MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D skos:closeMatch OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adhalinopathy, primary MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608104 +MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch OMIM:608104 congenital disorder of glycosylation, iia ih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ih +MONDO:0011969 ALG8-congenital disorder of glycosylation skos:closeMatch Orphanet:79325 ALG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931002 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842531 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535499 -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch Orphanet:163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608105 MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym re-ped-wc -MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 +MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome skos:closeMatch OMIM:608105 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writers cramp semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian hyperstimulation syndrome, familial gestational spontaneous +MONDO:0011971 hyper-IgM syndrome type 5 skos:closeMatch Orphanet:101092 Hyper-IgM syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608106 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085083 MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033266 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608115 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch OMIM:608115 ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian hyperstimulation syndrome, familial gestational spontaneous MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016471 -MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085083 +MONDO:0011972 ovarian hyperstimulation syndrome skos:closeMatch Orphanet:64739 Ovarian hyperstimulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608115 MONDO:0011973 zinc deficiency, transient neonatal skos:closeMatch OMIM:608118 zinc deficiency, transient neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zinc deficiency, neonatal, due to low breast milk zinc -MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608133 MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch OMIM:608133 retinitis pigmentosa 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842466 +MONDO:0011974 retinitis pigmentosa 7 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608133 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536471 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842466 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, paternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kagami-ogata syndrome MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608149 MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch Orphanet:254519 Kagami-Ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome -MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, paternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kagami-ogata syndrome MONDO:0011975 paternal uniparental disomy of chromosome 14 skos:closeMatch OMIM:608149 kagami-ogata syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kagami-ogata syndrome -MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608154 MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch OMIM:608154 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome skos:closeMatch Orphanet:50811 Lipodystrophy-intellectual disability-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608154 MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q22.1 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch OMIM:608156 nablus mask-like facial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nablus mask-like facial syndrome -MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842464 MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nablus mask-like facial syndrome +MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842464 MONDO:0011977 8q22.1 microdeletion syndrome skos:closeMatch Orphanet:178303 8q22.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608156 -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:exactMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011979 adult-onset foveomacular vitelliform dystrophy skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842914 -MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842422 MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement +MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842422 MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:295197 Synpolydactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly, type 3/3-prime/4, associated with metacarpal and metatarsal synostoses semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch OMIM:608180 synpolydactyly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011984 synpolydactyly type 2 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608180 -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 4 semapv:RegularExpressionReplacement +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842413 MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch OMIM:608184 immunodeficiency with hyper-igm, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608184 -MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842413 -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608189 -MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842402 -MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tropical calcific pancreatitis +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch OMIM:608184 immunodeficiency with hyper-igm, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-igm syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011985 hyper-IgM syndrome type 4 skos:closeMatch Orphanet:101091 Hyper-IgM syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-igm syndrome type 4 semapv:RegularExpressionReplacement MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tropical calcific pancreatitis +MONDO:0011986 tropical pancreatitis skos:closeMatch OMIM:608189 tropical calcific pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tropical calcific pancreatitis +MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842402 +MONDO:0011986 tropical pancreatitis skos:closeMatch Orphanet:103918 Tropical pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608189 MONDO:0011987 cone-rod dystrophy 13 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608194 -MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842398 MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608203 -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023281 +MONDO:0011988 neutrophil immunodeficiency syndrome skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842398 MONDO:0011989 leishmaniasis skos:closeMatch NCIT:C34936 Post Kala-Azar Dermal Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label post kala-azar dermal leishmaniasis -MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024198 MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007896 -MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024198 +MONDO:0011989 leishmaniasis skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023281 MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608217 +MONDO:0011990 seizures, benign familial neonatal, 3 skos:closeMatch OMIM:608217 seizures, benign familial neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial neonatal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch OMIM:608219 deafness, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608219 -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disc herniation with spastic paraplegia, autosomal recessive MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disc herniation with spastic paraplegia, autosomal recessive +MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936860 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536861 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608220 -MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch Orphanet:101005 Autosomal recessive spastic paraplegia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936860 MONDO:0011992 hereditary spastic paraplegia 25 skos:closeMatch OMIM:608220 spastic paraplegia 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011993 aspirin resistance skos:closeMatch OMIM:608223 aspirin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspirin, resistance to antithrombotic effect of MONDO:0011993 aspirin resistance skos:closeMatch OMIM:608223 aspirin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspirin, resistance to cardioprotective effect of -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch NCIT:C175700 Deafness, Autosomal Dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement +MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch OMIM:608224 deafness, autosomal dominant 41 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 41 semapv:RegularExpressionReplacement MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608224 -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608227 -MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic myeloid +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch OMIM:608227 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial abnormalities, cataracts, congenital heart disorder, sacral neural tube defects, and growth and developmental retardation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0011995 cataract - congenital heart disease - neural tube defect syndrome skos:closeMatch Orphanet:314993 Cataract-congenital heart disease-neural tube defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608227 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid, atypical -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelogenous -MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023473 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608232 +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023473 MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch Orphanet:521 Chronic myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009013 -MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myeloid, atypical +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, chronic myeloid +MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive skos:closeMatch OMIM:608232 leukemia, chronic myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, chronic myelogenous MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hermansky-pudlak syndrome with neutropenia MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842362 MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608233 -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slowed nerve conduction velocity, autosomal dominant MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label slowed nerve conduction velocity, autosomal dominant -MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 +MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch OMIM:608236 slowed nerve conduction velocity, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym slowed nerve conduction velocity, autosomal dominant MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608236 +MONDO:0011998 autosomal dominant slowed nerve conduction velocity skos:closeMatch Orphanet:140481 Autosomal dominant slowed nerve conduction velocity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842357 +MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, specific MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phobia, specific MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, simple -MONDO:0012000 specific phobia skos:closeMatch OMIM:608251 phobia, specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phobia, specific -MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch OMIM:608264 deafness, autosomal recessive 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608264 -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement -MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch NCIT:C129874 Deafness, Autosomal Recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608265 +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 skos:closeMatch OMIM:608265 deafness, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 39 semapv:RegularExpressionReplacement MONDO:0012004 parathyroid gland carcinoma skos:closeMatch Orphanet:143 Parathyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608266 MONDO:0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities skos:closeMatch OMIM:608281 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return, multiple cardiac malformations, and craniofacial and central nervous system abnormalities +MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608290 MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842307 MONDO:0012008 Lelis syndrome skos:closeMatch OMIM:608290 lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, with acanthosis nigricans -MONDO:0012008 Lelis syndrome skos:closeMatch Orphanet:140936 Lelis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608290 MONDO:0012009 coronary heart disease, susceptibility to, 2 skos:closeMatch OMIM:608316 coronary heart disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds2 MONDO:0012010 coronary heart disease, susceptibility to, 4 skos:closeMatch OMIM:608318 coronary heart disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds4 MONDO:0012011 coronary artery disease, autosomal dominant, 1 skos:closeMatch OMIM:608320 coronary artery disease, autosomal dominant, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder with myocardial infarction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate c -MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtc MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym di-cmtc +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, dominant intermediate c +MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch OMIM:608323 charcot-marie-tooth disease, dominant intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608323 MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C skos:closeMatch Orphanet:100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842237 -MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 +MONDO:0012013 Weill-Marchesani syndrome 2, dominant skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608328 +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ri-cmta MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608340 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842197 MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate a -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ri-cmta -MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A skos:closeMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 3, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 3, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch OMIM:608354 capillary malformation-arteriovenous malformation 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation MONDO:0012016 capillary malformation-arteriovenous malformation syndrome skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch OMIM:608358 congenital myopathy 7a, myosin storage, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, hyaline body, autosomal dominant -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk +MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch Orphanet:53698 Myosin storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch Orphanet:93283 Spondyloepiphyseal dysplasia, Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 +MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 22q11.2 duplication syndrome MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675369 MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608363 -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch Orphanet:1727 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 22q11.2 duplication syndrome -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012020 chromosome 22q11.2 microduplication syndrome skos:closeMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 22q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012021 myopia 17, autosomal dominant skos:closeMatch OMIM:608367 myopia 17, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopia type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 +MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 MONDO:0012022 orofacial cleft 4 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608371 +MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch OMIM:608372 deafness, autosomal dominant 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608372 MONDO:0012024 retinitis pigmentosa 26 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608380 -MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608389 MONDO:0012025 branchiootic syndrome 3 skos:closeMatch OMIM:608389 branchiootic syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bo syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 7-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012025 branchiootic syndrome 3 skos:closeMatch Orphanet:52429 Branchiootic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608389 MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012027 autoimmune disease, susceptibility to, 2 skos:closeMatch OMIM:608391 autoimmune disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 7-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 8-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012028 autoimmune disease, susceptibility to, 3 skos:closeMatch OMIM:608392 autoimmune disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012029 microcephaly 6, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608393 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608394 MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 skos:closeMatch OMIM:608394 deafness, autosomal dominant 43 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet glycoprotein type 4 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012031 platelet-type bleeding disorder 10 skos:closeMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842082 MONDO:0012032 Braddock syndrome skos:closeMatch Orphanet:52047 Braddock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608406 MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency @@ -19642,9 +19648,9 @@ MONDO:0012032 Braddock syndrome skos:closeMatch OMIM:608406 vater-like defects w MONDO:0012033 bradyopsia skos:closeMatch Orphanet:75374 Bradyopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608415 MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608423 MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F skos:closeMatch Orphanet:55595 TNP03-related limb-girdle muscular dystrophy D2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1f -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 -MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, calcification of basal ganglia, and facial dysmorphism MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis, calcification of basal ganglia, and facial dysmorphism +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, calcification of basal ganglia, and facial dysmorphism +MONDO:0012035 craniosynostosis-intracranial calcifications syndrome skos:closeMatch Orphanet:52054 Craniosynostosis-intracranial calcifications syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608432 MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, protection against MONDO:0012039 myocardial infarction, susceptibility to skos:closeMatch OMIM:608446 myocardial infarction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myocardial infarction, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -19653,122 +19659,122 @@ MONDO:0012041 familial adenomatous polyposis 2 skos:closeMatch Orphanet:247798 M MONDO:0012042 Hirschsprung disease, susceptibility to, 8 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608462 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reis-bücklers corneal dystrophy MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 -MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535476 MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch OMIM:608470 corneal dystrophy, reis-bucklers iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, geographic +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608470 +MONDO:0012043 Reis-Bucklers corneal dystrophy skos:closeMatch Orphanet:98961 Reis-Bücklers corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339278 MONDO:0012044 corneal dystrophy, lattice type 3A skos:closeMatch Orphanet:98964 Lattice corneal dystrophy type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608471 MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia skos:closeMatch OMIM:608484 congenital corneal opacities, cornea guttata, and corectopia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal opacities, congenital, with cornea guttata and corectopia -MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major depressive disorder MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major depressive disorder MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression +MONDO:0012048 endogenous depression skos:closeMatch OMIM:608516 major depressive disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major depressive disorder MONDO:0012048 endogenous depression skos:closeMatch NCIT:C35094 Unipolar Depression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unipolar depression MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012049 orofaciodigital syndrome VII skos:closeMatch OMIM:608518 orofaciodigital syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012050 major depressive disorder 1 skos:closeMatch OMIM:608520 major depressive disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch OMIM:608540 congenital disorder of glycosylation, iia ik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ik -MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608540 MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931005 +MONDO:0012052 ALG1-congenital disorder of glycosylation skos:closeMatch Orphanet:79327 ALG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608540 +MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch OMIM:608542 aneurysm, intracranial berry, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 MONDO:0012054 schizophrenia 12 skos:closeMatch OMIM:608543 schizophrenia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd12 MONDO:0012054 schizophrenia 12 skos:closeMatch OMIM:608543 schizophrenia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 1p-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608545 MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label larsen-like syndrome -MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrsl MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym larsen-like syndrome +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch OMIM:608545 larsen-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lrsl +MONDO:0012055 Larsen-like osseous dysplasia-short stature syndrome skos:closeMatch Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608545 MONDO:0012056 Leber congenital amaurosis 9 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608553 -MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:600832 Legionellosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym legionella infection +MONDO:0012057 legionnaire disease, susceptibility to skos:closeMatch Orphanet:549 Legionnaires disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label legionnaires disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012058 myocardial infarction, susceptibility to, 2 skos:closeMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mci2 -MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa4 MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608562 -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement -MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012059 polydactyly, postaxial, type A4 skos:closeMatch OMIM:608562 polydactyly, postaxial, iia a4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papa4 MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement +MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch OMIM:608565 deafness, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 35 semapv:RegularExpressionReplacement MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608565 MONDO:0012061 familial sick sinus syndrome skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040639 -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ventricular tachycardia -MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608569 +MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ventricular tachycardia MONDO:0012062 dilated cardiomyopathy 1O skos:closeMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1o semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608571 MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulnar/fibular ray defect and brachydactyly MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ulnar/fibular ray defect and brachydactyly +MONDO:0012063 ulnar/fibula ray defect-brachydactyly syndrome skos:closeMatch Orphanet:52056 Ulnar/fibula ray defect-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608571 MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome skos:closeMatch Orphanet:1200 Burn-McKeown syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608572 MONDO:0012066 atrial fibrillation, familial, 1 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608583 -MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch OMIM:608594 lipodystrophy, congenital generalized, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, agpat2-related MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608594 +MONDO:0012071 congenital generalized lipodystrophy type 1 skos:closeMatch OMIM:608594 lipodystrophy, congenital generalized, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brunzell syndrome, agpat2-related MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial partial lipodystrophy, köbberling type MONDO:0012072 familial partial lipodystrophy, Kobberling type skos:closeMatch Orphanet:79084 Familial partial lipodystrophy, Köbberling type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608600 MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608611 -MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch Orphanet:440706 Ribose-5-P isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291609 +MONDO:0012073 ribose-5-P isomerase deficiency skos:closeMatch OMIM:608611 ribose 5-phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ribose type 5-phosphate isomerase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535706 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837756 -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type b lipodystrophy -MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 -MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837750 +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:2457 Mandibuloacral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 +MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch Orphanet:90154 Mandibuloacral dysplasia with type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibuloacral dysplasia with type b lipodystrophy MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608615 -MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement +MONDO:0012075 oligodontia-cancer predisposition syndrome skos:closeMatch Orphanet:300576 Oligodontia-cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837750 MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement +MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:exactMatch NCIT:C168751 Amyotrophic Lateral Sclerosis 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012077 amyotrophic lateral sclerosis type 8 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608627 -MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 +MONDO:0012078 Joubert syndrome 3 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608629 MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012079 asperger syndrome, susceptibility to, 2 skos:closeMatch OMIM:608631 asperger syndrome, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608634 MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch OMIM:608634 neuronopathy, distal hereditary motor, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 15q11-q13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012080 neuronopathy, distal hereditary motor, type 2B skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608634 +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675336 MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 15q11-q13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch OMIM:608636 chromosome 15q11-q13 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch NCIT:C126692 Chromosome 15q11-q13 Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q11-q13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675336 -MONDO:0012081 15q11q13 microduplication syndrome skos:closeMatch Orphanet:238446 15q11q13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608636 -MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 -MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012082 asperger syndrome, susceptibility to, 1 skos:closeMatch OMIM:608638 asperger syndrome, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch OMIM:608641 deafness, autosomal dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 28 semapv:RegularExpressionReplacement -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608643 -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency +MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608641 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ddc deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopa decarboxylase deficiency +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch OMIM:608643 aromatic l-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aadc deficiency -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency skos:closeMatch Orphanet:35708 Aromatic L-amino acid decarboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608643 +MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608644 MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012085 primary ciliary dyskinesia 3 skos:closeMatch OMIM:608644 ciliary dyskinesia, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch OMIM:608645 deafness, autosomal dominant 31 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608645 +MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch OMIM:608646 ciliary dyskinesia, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 4, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012087 primary ciliary dyskinesia 4 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608646 -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608647 -MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837610 -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608649 -MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 +MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch OMIM:608647 ciliary dyskinesia, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012088 primary ciliary dyskinesia 5 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608647 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis-prematurity syndrome MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 +MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536271 +MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608649 +MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch Orphanet:88621 Ichthyosis-prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837610 MONDO:0012089 ichthyosis prematurity syndrome skos:closeMatch OMIM:608649 ichthyosis prematurity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis congenita type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch OMIM:608652 deafness, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608652 MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608653 MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 skos:closeMatch OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 32, with or without immotile sperm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -19780,438 +19786,438 @@ MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 skos:closeMatch MONDO:0012093 prostate cancer, hereditary, 3 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608656 MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608658 MONDO:0012094 prostate cancer, hereditary, 4 skos:closeMatch OMIM:608658 prostate cancer, hereditary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer, hereditary, on chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with distinctive facial appearance and brachydactyly -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with distinctive facial appearance and brachydactyly -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837564 MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608670 +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837564 +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robin sequence with distinctive facial appearance and brachydactyly +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome skos:closeMatch OMIM:608670 robin sequence with distinctive facial appearance and brachydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robin sequence with distinctive facial appearance and brachydactyly MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L skos:closeMatch Orphanet:99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608673 MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q12 duplication syndrome, type 260-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608687 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537199 MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837541 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608687 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch Orphanet:101110 Spinocerebellar ataxia type 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with spasmodic cough MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia with dysphonia -MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11q12 duplication syndrome, type 260-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aica-ribosuria due to atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aica-ribosuria due to atic deficiency -MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608688 +MONDO:0012098 spinocerebellar ataxia type 20 skos:closeMatch OMIM:608687 spinocerebellar ataxia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837530 MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch Orphanet:250977 AICA-ribosiduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608688 +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aicar transformylase/imp cyclohydrolase deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aica-ribosuria due to atic deficiency +MONDO:0012099 AICA-ribosiduria skos:closeMatch OMIM:608688 aica-ribosuria due to atic deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aica-ribosuria due to atic deficiency MONDO:0012100 major depressive disorder 2 skos:closeMatch OMIM:608691 major depressive disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym unipolar depression type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608695 MONDO:0012101 glaucoma 1, open angle, J skos:closeMatch OMIM:608695 glaucoma 1, open angle, j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch OMIM:608696 glaucoma 1, open angle, k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608696 +MONDO:0012102 glaucoma 1, open angle, K skos:closeMatch OMIM:608696 glaucoma 1, open angle, k semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma, primary open angle, juvenile-onset, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837518 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608703 +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537202 -MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch Orphanet:101111 Spinocerebellar ataxia type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608703 MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012104 acquired partial lipodystrophy skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220989 -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, susceptibility to -MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, susceptibility to +MONDO:0012103 spinocerebellar ataxia type 25 skos:closeMatch OMIM:608703 spinocerebellar ataxia 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apld, susceptibility to MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, progressive +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, susceptibility to +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, susceptibility to +MONDO:0012104 acquired partial lipodystrophy skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220989 +MONDO:0012104 acquired partial lipodystrophy skos:exactMatch OMIM:608709 lipodystrophy, partial, acquired, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608710 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047888 -MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495801 +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014890 +MONDO:0012105 granulomatosis with polyangiitis skos:closeMatch Orphanet:900 Granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608710 MONDO:0012106 microcephaly 5, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608716 -MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837481 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608728 +MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837481 MONDO:0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type skos:closeMatch OMIM:608728 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, matrilin-3 related MONDO:0012109 hypertension, essential, susceptibility to, 4 skos:closeMatch OMIM:608742 hypertension, essential, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt4 +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf1 deficiency +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation with sensorineural deafness and mental retardation MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608747 +MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837475 MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin-like growth factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym igf1 deficiency -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch Orphanet:73272 Growth delay due to insulin-like growth factor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837475 -MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency skos:closeMatch OMIM:608747 insulin-like growth factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation with sensorineural deafness and mental retardation MONDO:0012111 hypertrophic cardiomyopathy 8 skos:closeMatch OMIM:608751 cardiomyopathy, familial hypertrophic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic, mid-left ventricular chamber type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012112 hypertrophic cardiomyopathy 10 skos:closeMatch OMIM:608758 cardiomyopathy, familial hypertrophic, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic, mid-left ventricular chamber type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type skos:closeMatch OMIM:608763 ehlers-danlos syndrome, beasley-cohen iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome with mental retardation, deafness, and cataract -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837454 -MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608768 MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931006 +MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch OMIM:608768 spinocerebellar ataxia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012116 spinocerebellar ataxia type 8 skos:closeMatch Orphanet:98760 Spinocerebellar ataxia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608768 +MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch OMIM:608776 congenital disorder of glycosylation, iia il semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg il MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608776 MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbohydrate deficient glycoprotein syndrome type il -MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch OMIM:608776 congenital disorder of glycosylation, iia il semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg il +MONDO:0012117 ALG9-congenital disorder of glycosylation skos:closeMatch Orphanet:79328 ALG9-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931006 MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch OMIM:608779 congenital disorder of glycosylation, iia iie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iie MONDO:0012118 COG7-congenital disorder of glycosylation skos:closeMatch Orphanet:79333 COG7-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608779 MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012119 asperger syndrome, susceptibility to, 3 skos:closeMatch OMIM:608781 asperger syndrome, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837429 +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536258 -MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608782 +MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch Orphanet:79246 Pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837429 MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency skos:closeMatch OMIM:608782 pyruvate dehydrogenase phosphatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactic acidemia with pyruvate dehydrogenase phosphatase deficiency +MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012122 moyamoya disease 3 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608796 -MONDO:0012122 moyamoya disease 3 skos:closeMatch OMIM:608796 moyamoya disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch OMIM:608799 congenital disorder of glycosylation, iia ie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ie MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dpm1-cdg MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch Orphanet:79322 DPM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608799 +MONDO:0012123 congenital disorder of glycosylation type 1E skos:closeMatch OMIM:608799 congenital disorder of glycosylation, iia ie semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ie MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sudden infant death with dysgenesis of the testes syndrome MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sudden infant death with dysgenesis of the testes syndrome MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608800 MONDO:0012124 sudden infant death-dysgenesis of the testes syndrome skos:closeMatch Orphanet:168593 Sudden infant death-dysgenesis of the testes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837371 -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837355 MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelizaeus-merzbacher-like disorder, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837355 -MONDO:0012125 hypomyelinating leukodystrophy 2 skos:closeMatch Orphanet:280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608804 +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avascular necrosis of femoral head, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head +MONDO:0012126 familial avascular necrosis of femoral head skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837342 MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2j MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J skos:closeMatch Orphanet:140922 Titin-related limb-girdle muscular dystrophy R10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608807 MONDO:0012128 transposition of the great arteries, dextro-looped skos:closeMatch Orphanet:860 Congenitally uncorrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608808 MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-b crystallin-related late-onset distal myopathy -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch Orphanet:399058 Alpha-B crystallin-related late-onset myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608810 -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, alpha-b crystallin-related MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, with or without cataract and/or cardiomyopathy -MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012130 myofibrillar myopathy 2 skos:closeMatch OMIM:608810 myopathy, myofibrillar, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, alpha-b crystallin-related MONDO:0012131 metaphyseal undermodeling, spondylar dysplasia, and overgrowth skos:closeMatch Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608811 -MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and cancer, susceptibility to +MONDO:0012132 colorectal cancer, susceptibility to, 1 skos:closeMatch OMIM:608812 colorectal cancer, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608816 -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, lethal neonatal MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carnitine palmitoyltransferase type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt2 deficiency, lethal neonatal MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608836 MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833518 -MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpt type 2 deficiency, lethal neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant -MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carney complex variant +MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form skos:closeMatch OMIM:608836 carnitine palmitoyltransferase 2 deficiency, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carnitine palmitoyltransferase type 2 deficiency, neonatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608837 MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch Orphanet:319340 Carney complex-trismus-pseudocamptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carney complex variant +MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome skos:closeMatch OMIM:608837 carney complex variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carney complex variant MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608840 MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 skos:closeMatch OMIM:608840 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, large-related MONDO:0012139 macular dystrophy, retinal, 3 skos:closeMatch OMIM:608850 macular dystrophy, retinal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcdr3 MONDO:0012141 orofacial cleft 6, susceptibility to skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608864 -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 -MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stomatin-deficient cryohydrocytosis with neurologic defects -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stomatin-deficient cryohydrocytosis with neurologic defects +MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 +MONDO:0012142 orofacial cleft 5 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608874 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome with pseudohyperkalemia and hemolysis MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608885 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stomatin-deficient cryohydrocytosis with neurologic defects MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837206 -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome with pseudohyperkalemia and hemolysis +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch Orphanet:168577 Hereditary cryohydrocytosis with reduced stomatin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608885 +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin skos:closeMatch OMIM:608885 stomatin-deficient cryohydrocytosis with neurologic defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stomatin-deficient cryohydrocytosis with neurologic defects MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 MONDO:0012144 Waardenburg syndrome type 2D skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608890 MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch Orphanet:280598 Hereditary sensorimotor neuropathy with hyperelastic skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608895 MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with or without age-related macular degeneration MONDO:0012145 macular degeneration, age-related, 3 skos:closeMatch OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary, with or without age-related macular degeneration -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh3 -MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh3 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hplh3 +MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hlh3 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608898 MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 skos:closeMatch OMIM:608898 hemophagocytic lymphohistiocytosis, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemophagocytic lymphohistiocytosis, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012147 coronary heart disease, susceptibility to, 5 skos:closeMatch OMIM:608901 coronary heart disease, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chds5 -MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012153 Alzheimer disease 9 skos:closeMatch OMIM:608907 alzheimer disease 9, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 9, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012154 myopia 6 skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608908 -MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia, posterior -MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia, posterior MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608911 MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 -MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008587 MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002754 +MONDO:0012155 choanal atresia skos:closeMatch Orphanet:137914 Choanal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008587 +MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia, posterior +MONDO:0012155 choanal atresia skos:closeMatch OMIM:608911 choanal atresia, posterior semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia, posterior MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms id, formerly +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608930 +MONDO:0012156 myasthenic syndrome, congenital, 1B, fast-channel skos:closeMatch OMIM:608930 myasthenic syndrome, congenital, 1b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 1b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608931 +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms id, formerly +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenia, familial infantile, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012157 congenital myasthenic syndrome 4C skos:closeMatch OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch OMIM:608940 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch Orphanet:85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837073 -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608957 -MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837065 MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cd8 deficiency, familial MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch OMIM:608957 cd8 deficiency, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd8 deficiency, familial +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608957 +MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation skos:closeMatch Orphanet:169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837065 MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608970 +MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, patterned, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012162 patterned macular dystrophy 2 skos:closeMatch OMIM:608970 macular dystrophy, patterned, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, butterfly-shaped pigmentary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 -MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 -MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive -MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837026 +MONDO:0012163 immunodeficiency 104 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive +MONDO:0012163 immunodeficiency 104 skos:exactMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive +MONDO:0012163 immunodeficiency 104 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608971 MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608978 +MONDO:0012164 Meacham syndrome skos:closeMatch Orphanet:3097 Meacham syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837026 MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750433 -MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies +MONDO:0012165 BNAR syndrome skos:closeMatch Orphanet:217266 BNAR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608980 MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bifid nose with or without anorectal and renal anomalies MONDO:0012165 BNAR syndrome skos:closeMatch OMIM:608980 bifid nose with or without anorectal and renal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bifid nose with or without anorectal and renal anomalies +MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsa MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, sensory, type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012166 autosomal dominant sensory ataxia 1 skos:closeMatch OMIM:608984 ataxia, sensory, 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adsa MONDO:0012167 atrial fibrillation, familial, 2 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608988 MONDO:0012169 premature ovarian failure 3 skos:closeMatch OMIM:608996 premature ovarian failure 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof3 -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609006 +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174436 Deafness, Autosomal Recessive 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 36, with or without vestibular involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant, without vestibular involvement -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch NCIT:C174436 Deafness, Autosomal Recessive 36 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609006 -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency with myopathy and neuropathy -MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch OMIM:609015 mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch NCIT:C98991 Mitochondrial Trifunctional Protein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial trifunctional protein deficiency +MONDO:0012172 mitochondrial trifunctional protein deficiency skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609016 -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch NCIT:C129929 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long-chain type 3-hydroxyacyl-coa dehydrogenase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012175 cataract 28 skos:closeMatch OMIM:609026 cataract 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, age-related cortical, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012176 Emanuel syndrome skos:closeMatch OMIM:609029 emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supernumerary der(22)t(11 +MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609029 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836929 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535733 -MONDO:0012176 Emanuel syndrome skos:closeMatch Orphanet:96170 Emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609029 +MONDO:0012176 Emanuel syndrome skos:closeMatch OMIM:609029 emanuel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym supernumerary der(22)t(11 +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior column ataxia with retinitis pigmentosa +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836916 +MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609033 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536343 -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609033 MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label posterior column ataxia with retinitis pigmentosa -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa -MONDO:0012177 posterior column ataxia-retinitis pigmentosa syndrome skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcarp MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:closeMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012178 intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature skos:closeMatch OMIM:609037 mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature MONDO:0012179 narcolepsy 3 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609039 MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609040 -MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609041 +MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 skos:exactMatch NCIT:C173471 Familial Arrhythmogenic Right Ventricular Dysplasia 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836899 MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch OMIM:609041 spastic paraplegia 27, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 27, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012181 hereditary spastic paraplegia 27 skos:closeMatch Orphanet:101007 Autosomal recessive spastic paraplegia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609041 MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609048 -MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537185 MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609049 +MONDO:0012184 Pierson syndrome skos:closeMatch Orphanet:2670 Pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836876 MONDO:0012184 Pierson syndrome skos:closeMatch OMIM:609049 pierson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcoria-congenital nephrotic syndrome MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836862 MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch Orphanet:168555 Spondylometaphyseal dysplasia, A4 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 -MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group i MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch OMIM:609053 fanconi anemia, complementation group 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609053 +MONDO:0012186 Fanconi anemia complementation group I skos:closeMatch NCIT:C129026 Fanconi Anemia, Complementation Group I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group i MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch NCIT:C129027 Fanconi Anemia, Complementation Group J semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j -MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group j +MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch OMIM:609054 fanconi anemia, complementation group j semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group j MONDO:0012187 Fanconi anemia complementation group J skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609054 -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609055 -MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln9 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch OMIM:609055 ceroid lipofuscinosis, neuronal, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836823 -MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609057 +MONDO:0012188 neuronal ceroid lipofuscinosis 9 skos:closeMatch Orphanet:228357 CLN9 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln9 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch OMIM:609057 epidermolysis bullosa simplex 7, with nephropathy and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy with pretibial epidermolysis bullosa and deafness -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609057 +MONDO:0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome skos:closeMatch Orphanet:300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836823 MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch OMIM:609060 combined oxidative phosphorylation deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatoencephalopathy, early fatal progressive -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609060 -MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836797 +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch NCIT:C125663 Combined Oxidative Phosphorylation Deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 skos:closeMatch Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609060 MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent neonatal, with cerebellar agenesis MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch OMIM:609069 pancreatic and cerebellar agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca -MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609069 MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836780 +MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609069 MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome skos:closeMatch Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paca MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1g MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G skos:closeMatch Orphanet:55596 HNRNPDL-related limb-girdle muscular dystrophy D3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609115 -MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 +MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch OMIM:609122 aneurysm, intracranial berry, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836756 MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch OMIM:609128 arthrogryposis, distal, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis with severe scoliosis +MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch Orphanet:65720 Arthrogryposis-severe scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836756 MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609129 MONDO:0012196 autosomal dominant auditory neuropathy 1 skos:closeMatch OMIM:609129 auditory neuropathy, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy, nonsyndromic dominant MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0348890 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NCIT:C2870 Aplastic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplastic anemia, susceptibility to -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:182040 Aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609135 -MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch NCIT:C2870 Aplastic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538494 +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0348890 +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609135 +MONDO:0012197 idiopathic aplastic anemia skos:closeMatch Orphanet:182040 Aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aplastic anemia MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012198 PCWH syndrome skos:closeMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome, neurologic variant MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609136 +MONDO:0012198 PCWH syndrome skos:closeMatch OMIM:609136 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym waardenburg-shah syndrome, neurologic variant MONDO:0012198 PCWH syndrome skos:closeMatch Orphanet:163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836727 -MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch OMIM:609140 corneal dystrophy, posterior polymorphous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012199 posterior polymorphous corneal dystrophy 2 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609140 -MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609141 MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch OMIM:609141 corneal dystrophy, posterior polymorphous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012200 posterior polymorphous corneal dystrophy 3 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609141 MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch OMIM:609148 malaria, mild, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals MONDO:0012202 malaria, mild, susceptibility to skos:closeMatch Orphanet:293208 Celiac artery compression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mals MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune, autosomal dominant +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, nonautoimmune +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, congenital nonautoimmune -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic thyroid hyperplasia, autosomal dominant MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroidism, nonautoimmune -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch Orphanet:424 Familial hyperthyroidism due to mutations in TSH receptor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609152 -MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperthyroidism, nonautoimmune +MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor skos:closeMatch OMIM:609152 hyperthyroidism, nonautoimmune semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic thyroid hyperplasia, autosomal dominant +MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, mild MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia chiswick MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia east london MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia falkirk MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia lille -MONDO:0012204 familial pseudohyperkalemia skos:closeMatch OMIM:609153 pseudohyperkalemia, familial, 2, due to red cell leak semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryohydrocytosis, mild MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609153 MONDO:0012204 familial pseudohyperkalemia skos:closeMatch Orphanet:90044 Familial pseudohyperkalemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836705 MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant striatal neurodegeneration MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 skos:closeMatch Orphanet:228169 Autosomal dominant striatal neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609161 -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609162 +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with precocious osteoarthritis +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym czech dysplasia MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label czech dysplasia MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535766 +MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609162 MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudorheumatoid dysplasia, progressive, with hypoplastic toes -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym czech dysplasia -MONDO:0012206 Czech dysplasia, metatarsal type skos:closeMatch OMIM:609162 czech dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia with precocious osteoarthritis MONDO:0012207 umbilicus, familial flat skos:closeMatch OMIM:609164 umbilicus, familial flat semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym flat umbilicus, autosomal dominant +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665704 +MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609165 MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratoderma, reticular MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarau disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch OMIM:609165 ichthyosis with confetti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, ichthyosiform, congenital reticular -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609165 -MONDO:0012208 congenital reticular ichthyosiform erythroderma skos:closeMatch Orphanet:281190 Congenital reticular ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665704 -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiogenic-deafness syndrome -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchiogenic-deafness syndrome -MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836673 MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609166 +MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch Orphanet:50815 Branchiogenic deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836673 +MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branchiogenic-deafness syndrome +MONDO:0012209 branchiogenic deafness syndrome skos:closeMatch OMIM:609166 branchiogenic-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branchiogenic-deafness syndrome MONDO:0012210 migraine with aura, susceptibility to, 7 skos:closeMatch OMIM:609179 migraine with aura, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr7 MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch OMIM:609180 congenital disorder of glycosylation, iia if semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg if -MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609180 MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836669 -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz aortic aneurysm syndrome +MONDO:0012211 MPDU1-congenital disorder of glycosylation skos:closeMatch Orphanet:79323 MPDU1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609180 +MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 +MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz aortic aneurysm syndrome MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch OMIM:609192 loeys-dietz syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012212 Loeys-Dietz syndrome 1 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609192 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836632 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536862 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch Orphanet:101006 Autosomal recessive spastic paraplegia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609195 MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012213 hereditary spastic paraplegia 26 skos:closeMatch OMIM:609195 spastic paraplegia 26, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 26, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch NCIT:C131451 Familial Glucocorticoid Deficiency Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:609197 glucocorticoid deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609197 MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch OMIM:607398 glucocorticoid deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012214 glucocorticoid deficiency 3 skos:closeMatch NCIT:C131451 Familial Glucocorticoid Deficiency Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 -MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:209224 Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 -MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, myotilin-related +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:159000 MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch OMIM:609200 myopathy, myofibrillar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, myotilin-related +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:98911 Distal myotilinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609200 +MONDO:0012215 myofibrillar myopathy 3 skos:closeMatch Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834659 +MONDO:0012215 myofibrillar myopathy 3 skos:exactMatch Orphanet:209224 Myotilinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myotilinopathy +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with or without optic nerve misrouting and/or anterior segment dysgenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch Orphanet:397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609218 -MONDO:0012217 Bruck syndrome 2 skos:closeMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures +MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome skos:closeMatch OMIM:609218 foveal hypoplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label foveal hypoplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836602 +MONDO:0012217 Bruck syndrome 2 skos:closeMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0012217 Bruck syndrome 2 skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609220 -MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with occipital cephalocele, autosomal dominant MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker malformation with occipital cephalocele, autosomal dominant +MONDO:0012218 dandy-walker malformation with occipital cephalocele, autosomal dominant skos:closeMatch OMIM:609222 dandy-walker malformation with occipital cephalocele, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dandy-walker malformation with occipital cephalocele, autosomal dominant +MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836573 -MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:79478 Griscelli syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537303 MONDO:0012220 Griscelli syndrome type 3 skos:closeMatch Orphanet:381 Griscelli syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609227 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836545 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79279 Alpha-N-acetylgalactosaminidase deficiency type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 +MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch Orphanet:79281 Alpha-N-acetylgalactosaminidase deficiency type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836522 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:79280 Alpha-N-acetylgalactosaminidase deficiency type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency, adult-onset -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 +MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch OMIM:609242 kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012223 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate skos:closeMatch OMIM:609250 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marie unna-like scalp hypotrichosis MONDO:0012224 febrile seizures, familial, 6 skos:closeMatch OMIM:609253 febrile seizures, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch OMIM:609254 senior-loken syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012225 Senior-Loken syndrome 5 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609254 MONDO:0012226 febrile seizures, familial, 5 skos:closeMatch OMIM:609255 febrile seizures, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836485 -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609260 -MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia2 MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy iia2 +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, iia 2a2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmsn iia2 +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609260 +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836485 +MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 skos:closeMatch Orphanet:99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2a2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012233 Li-Fraumeni syndrome 2 skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609265 +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836474 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609270 +MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836474 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch Orphanet:284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia -MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 skos:closeMatch OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012237 nemaline myopathy 6 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609273 -MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609283 -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 +MONDO:0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 skos:closeMatch OMIM:609283 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nemaline myopathy type 1 semapv:RegularExpressionReplacement -MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 -MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 +MONDO:0012239 congenital myopathy 4B, autosomal recessive skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609284 MONDO:0012240 nemaline myopathy 4 skos:closeMatch OMIM:609285 nemaline myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cap myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 -MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012240 nemaline myopathy 4 skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609285 MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609286 +MONDO:0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 skos:closeMatch OMIM:609286 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial neurocardiogenic MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syncope, familial vasovagal MONDO:0012242 syncope, familial vasovagal skos:closeMatch OMIM:609289 syncope, familial vasovagal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syncope, familial vasovagal @@ -20222,179 +20228,179 @@ MONDO:0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital mal MONDO:0012244 prostate cancer, hereditary, 5 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609299 MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 MONDO:0012245 developmental and epileptic encephalopathy, 3 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609304 +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609306 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836395 -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609306 MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch OMIM:609306 spinocerebellar ataxia 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537203 -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609307 +MONDO:0012246 spinocerebellar ataxia type 26 skos:closeMatch Orphanet:101112 Spinocerebellar ataxia type 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 26 semapv:RegularExpressionReplacement MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836383 -MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement -MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal dominant, fgf14-related +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609307 +MONDO:0012247 spinocerebellar ataxia type 27 skos:exactMatch OMIM:193003 spinocerebellar ataxia 27a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 27 semapv:RegularExpressionReplacement MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537204 +MONDO:0012247 spinocerebellar ataxia type 27 skos:closeMatch Orphanet:98764 Spinocerebellar ataxia type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836383 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609308 MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K skos:closeMatch Orphanet:86812 POMT1-related limb-girdle muscular dystrophy R11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2k MONDO:0012249 Lynch syndrome 2 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609310 -MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609311 MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836336 -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836330 -MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609313 -MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mednik +MONDO:0012250 Charcot-Marie-Tooth disease type 4H skos:closeMatch Orphanet:99954 Charcot-Marie-Tooth disease type 4H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609311 MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma -MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoid tumor, atypical +MONDO:0012251 MEDNIK syndrome skos:closeMatch OMIM:609313 mednik syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mednik +MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609313 +MONDO:0012251 MEDNIK syndrome skos:closeMatch Orphanet:171851 MEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836330 MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malignant rhabdoid tumor, somatic MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor, posterior fossa, of infancy, familial +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym teratoid tumor, atypical MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch OMIM:609322 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym at/rt MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:99966 Atypical teratoid rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609324 +MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836315 MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch OMIM:609324 epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia -MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia skos:closeMatch Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836315 MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epiphyseal dysplasia, multiple, with miniepiphyses MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch OMIM:609325 epiphyseal dysplasia, multiple, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epiphyseal dysplasia, multiple, with miniepiphyses MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836307 MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses skos:closeMatch Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609325 -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 +MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch OMIM:609340 spastic paraplegia 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 28, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836295 -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrorenodigital syndrome with limb malformations and triradiate acetabula -MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609345 +MONDO:0012256 hereditary spastic paraplegia 28 skos:closeMatch Orphanet:101008 Autosomal recessive spastic paraplegia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609340 MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebrorenodigital syndrome with limb malformations and triradiate acetabula -MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836284 +MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609345 +MONDO:0012257 Cerebrorenodigital syndrome skos:closeMatch OMIM:609345 cerebrorenodigital syndrome with limb malformations and triradiate acetabula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrorenodigital syndrome with limb malformations and triradiate acetabula MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609352 +MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema skos:closeMatch Orphanet:158681 Epidermolysis bullosa simplex with circinate migratory erythema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836284 MONDO:0012259 colloid cysts of third ventricle skos:closeMatch OMIM:609363 colloid cysts of third ventricle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroepithelial cysts of third ventricle -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 -MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 +MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 +MONDO:0012260 cataract 35 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609376 MONDO:0012260 cataract 35 skos:closeMatch OMIM:609376 cataract 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom4 locus MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch OMIM:609384 fibrosis of extraocular muscles, congenital, 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom4 locus MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 -MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 4-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitiligo-associated multiple autoimmune disorder susceptibility type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012263 autoimmune disease, susceptibility to, 4 skos:closeMatch OMIM:609400 autoimmune disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder susceptibility locus, chromosome type 4-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch OMIM:609402 preeclampsia/eclampsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012264 preeclampsia/eclampsia 2 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609402 -MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609403 -MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch OMIM:609403 preeclampsia/eclampsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012265 preeclampsia/eclampsia 3 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609403 MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609404 +MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012266 preeclampsia/eclampsia 4 skos:closeMatch OMIM:609404 preeclampsia/eclampsia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012267 holoprosencephaly 8 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609408 MONDO:0012268 AIDS skos:closeMatch NCIT:C2851 Acquired Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired immunodeficiency syndrome -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch OMIM:609425 chromosome 3q29 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609425 MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674949 +MONDO:0012269 chromosome 3q29 microdeletion syndrome skos:closeMatch Orphanet:65286 3q29 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609425 +MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 +MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom-u MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, with ulnar hand anomalies MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012270 Tukel syndrome skos:closeMatch OMIM:609428 tukel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfeom-u -MONDO:0012270 Tukel syndrome skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609428 -MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836206 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609432 +MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836206 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly, mesoaxial synostotic, with phalangeal reduction MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction skos:closeMatch OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndactyly, mesoaxial synostotic, with phalangeal reduction -MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, keratoconus, febrile seizures, and sinoatrial block MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, keratoconus, febrile seizures, and sinoatrial block +MONDO:0012272 intellectual disability, keratoconus, febrile seizures, and sinoatrial block skos:closeMatch OMIM:609438 mental retardation, keratoconus, febrile seizures, and sinoatrial block semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, keratoconus, febrile seizures, and sinoatrial block MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609439 -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement +MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 skos:closeMatch OMIM:609439 deafness, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2098 Acromesomelic dysplasia, Grebe type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 +MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valproate embryopathy, susceptibility to +MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproic acid embryopathy MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016524 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236026 -MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproic acid embryopathy MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536525 MONDO:0012275 fetal valproate syndrome skos:closeMatch Orphanet:1906 Fetal valproate spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609442 MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valproate embryopathy, susceptibility to -MONDO:0012275 fetal valproate syndrome skos:closeMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valproate embryopathy, susceptibility to MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836173 MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch Orphanet:79137 Generalized epilepsy-paroxysmal dyskinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609446 -MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized epilepsy and paroxysmal dyskinesia MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome skos:closeMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal nonkinesigenic dyskinesia, type 3, with or without generalized epilepsy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label late-onset distal myopathy, markesbery-griggs type -MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836155 +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609452 +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836155 +MONDO:0012277 myofibrillar myopathy 4 skos:closeMatch Orphanet:98912 Late-onset distal myopathy, Markesbery-Griggs type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label late-onset distal myopathy, markesbery-griggs type MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 MONDO:0012278 supranuclear palsy, progressive, 2 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609454 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609460 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836123 -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label goldberg-shprintzen syndrome MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch OMIM:609460 goldberg-shprintzen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym goldberg-shprintzen syndrome +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836123 +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609460 +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome skos:closeMatch Orphanet:66629 Goldberg-Shprintzen megacolon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537279 MONDO:0012282 Al-Gazali syndrome skos:closeMatch Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609465 -MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport/focal segmental glomerulosclerosis-like syndrome MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nede +MONDO:0012284 nephropathy, progressive, with deafness skos:closeMatch OMIM:609469 nephropathy, progressive, with deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport/focal segmental glomerulosclerosis-like syndrome MONDO:0012285 left ventricular noncompaction 2 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609470 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:90653 Stickler syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stickler syndrome, atypical -MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012287 Stickler syndrome, type I, nonsyndromic ocular skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609508 MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym filaminopathy, autosomal dominant MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, filamin c-related MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle filaminopathy +MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch OMIM:609524 myopathy, myofibrillar, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609524 -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 -MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836033 +MONDO:0012289 myofibrillar myopathy 5 skos:closeMatch Orphanet:171445 Muscle filaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle filaminopathy MONDO:0012290 CEDNIK syndrome skos:closeMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome MONDO:0012290 CEDNIK syndrome skos:closeMatch OMIM:609528 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome +MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836033 +MONDO:0012290 CEDNIK syndrome skos:closeMatch Orphanet:66631 CEDNIK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609528 MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iga, selective deficiency of, taci-related -MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of, taci-related MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin a, selective deficiency of, taci-related MONDO:0012291 immunoglobulin A deficiency 2 skos:closeMatch OMIM:609529 immunoglobulin a deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin a deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, resistance to MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus, resistance to -MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, susceptibility to MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis c virus infection, response to therapy of -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement +MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, resistance to +MONDO:0012292 hepatitis C virus, susceptibility to skos:closeMatch OMIM:609532 hepatitis c virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcv, susceptibility to MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement +MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch OMIM:609533 deafness, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 23 semapv:RegularExpressionReplacement MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609533 MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 MONDO:0012295 complement component 5 deficiency skos:closeMatch Orphanet:314 Erythroderma desquamativum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609536 MONDO:0012296 lipomyelomeningocele skos:closeMatch Orphanet:268835 Lipomyelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836022 -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, optic atrophy, and neuropathy -MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 -MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, optic atrophy, and neuropathy MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609541 -MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609545 +MONDO:0012297 SPOAN syndrome skos:closeMatch OMIM:609541 spastic paraplegia, optic atrophy, and neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, optic atrophy, and neuropathy +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836010 +MONDO:0012297 SPOAN syndrome skos:closeMatch Orphanet:320406 Spastic paraplegia-optic atrophy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia-optic atrophy-neuropathy syndrome MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome +MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch Orphanet:496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609545 MONDO:0012298 omphalocele, diaphragmatic hernia, and radial ray defects skos:closeMatch OMIM:609545 omphalocele, diaphragmatic hernia, and radial ray defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gershoni-baruch syndrome -MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609549 -MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal recessive MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012299 nanophthalmos 2 skos:closeMatch OMIM:609549 nanophthalmos 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmos, autosomal recessive +MONDO:0012299 nanophthalmos 2 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609549 MONDO:0012300 prostate cancer, hereditary, 6 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609558 -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion myopathy, tk2-related -MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch OMIM:609560 mitochondrial DNA depletion syndrome 2 (myopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609560 +MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch NCIT:C185236 Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 2 (myopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501891 MONDO:0012302 parietal foramina 3 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609566 MONDO:0012303 migraine with or without aura, susceptibility to, 8 skos:closeMatch OMIM:609570 migraine with or without aura, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr8 @@ -20403,21 +20409,21 @@ MONDO:0012304 photoparoxysmal response 2 skos:closeMatch OMIM:609572 photoparoxy MONDO:0012305 photoparoxysmal response 3 skos:closeMatch Orphanet:166409 Photosensitive epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609573 MONDO:0012305 photoparoxysmal response 3 skos:closeMatch OMIM:609573 photoparoxysmal response 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym photoparoxysmal response with or without myoclonic epilepsy MONDO:0012306 cardiomyopathy, familial restrictive, 2 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609578 -MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609579 MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1865070 +MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch Orphanet:168624 Familial scaphocephaly syndrome, McGillivray type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609579 MONDO:0012307 familial scaphocephaly syndrome, McGillivray type skos:closeMatch OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scaphocephaly, maxillary retrusion, and mental retardation MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch NCIT:C74997 Joubert Syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609583 +MONDO:0012308 Joubert syndrome with renal defect skos:closeMatch OMIM:609583 joubert syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012309 parietal foramina 2 skos:closeMatch Orphanet:60015 Enlarged parietal foramina semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609597 -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia with synergistic divergence -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital fibrosis syndrome with synergistic divergence -MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609612 -MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation +MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital fibrosis syndrome with synergistic divergence +MONDO:0012310 fibrosis of extraocular muscles, congenital, with synergistic divergence skos:closeMatch OMIM:609612 fibrosis of extraocular muscles, congenital, with synergistic divergence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym external ophthalmoplegia with synergistic divergence MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012312 short QT syndrome type 1 skos:closeMatch OMIM:609620 short qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short qt syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012312 short QT syndrome type 1 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609620 MONDO:0012313 short QT syndrome type 2 skos:closeMatch OMIM:609621 short qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short qt syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012313 short QT syndrome type 2 skos:closeMatch Orphanet:51083 Familial short QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609621 @@ -20428,163 +20434,163 @@ MONDO:0012314 short QT syndrome type 3 skos:closeMatch OMIM:609622 short qt synd MONDO:0012315 distal 10q deletion syndrome skos:closeMatch OMIM:609625 chromosome 10q26 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal chromosome type 10q26 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609625 MONDO:0012315 distal 10q deletion syndrome skos:closeMatch Orphanet:96148 Distal monosomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674937 +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609628 +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864997 +MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072223 MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537839 -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864997 -MONDO:0012316 Majeed syndrome skos:closeMatch Orphanet:77297 Majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609628 -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome -MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis MONDO:0012316 Majeed syndrome skos:closeMatch NCIT:C119058 Majeed Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis +MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label majeed syndrome MONDO:0012316 Majeed syndrome skos:closeMatch OMIM:609628 majeed syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym majeed syndrome +MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteric neuropathy, familial MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic intestinal, neuropathic -MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609629 -MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls1 +MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609630 -MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls1 MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder, early-onset MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012319 major affective disorder 3 skos:closeMatch OMIM:609633 major affective disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012320 migraine, familial hemiplegic, 3 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609634 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:602192 ADAM10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 +MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609636 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:609636 alzheimer disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad10 MONDO:0012321 Alzheimer disease 10 skos:closeMatch OMIM:609636 alzheimer disease 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012321 Alzheimer disease 10 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609636 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 -MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 +MONDO:0012322 holoprosencephaly 5 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609637 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609638 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 -MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864826 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535493 +MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch Orphanet:158687 Lethal acantholytic erosive disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864826 MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermolysis bullosa, lethal acantholytic MONDO:0012323 lethal acantholytic epidermolysis bullosa skos:closeMatch OMIM:609638 epidermolysis bullosa, lethal acantholytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermolysis bullosa, lethal acantholytic -MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609640 -MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth deficiency, facial anomalies, and brachydactyly +MONDO:0012324 Frias syndrome skos:closeMatch OMIM:609640 frias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q22 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012324 Frias syndrome skos:closeMatch Orphanet:264200 14q22q23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609640 MONDO:0012325 Nguyen syndrome skos:closeMatch OMIM:609643 nguyen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mca/mr with hypocholesterolemia due to familial hypobetalipoproteinemia -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609646 MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 skos:closeMatch OMIM:609646 deafness, autosomal recessive 42 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 42 semapv:RegularExpressionReplacement -MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609647 MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch OMIM:609647 deafness, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609647 MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pilar cyst MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tricholemmal cyst MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012328 trichilemmal cyst skos:closeMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichilemmal cyst type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864784 MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch Orphanet:50809 Talo-patello-scaphoid osteolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609655 -MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals +MONDO:0012330 talo-patello-scaphoid osteolysis skos:closeMatch OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals MONDO:0012331 migraine with aura, susceptibility to, 9 skos:closeMatch OMIM:609670 migraine with aura, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr9 +MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement -MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch OMIM:609706 deafness, autosomal recessive 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609706 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857855 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609727 -MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857855 +MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536863 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch Orphanet:101009 Autosomal dominant spastic paraplegia type 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant spastic paraplegia type 29 MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012334 hereditary spastic paraplegia 29 skos:closeMatch OMIM:609727 spastic paraplegia 29, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 29, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proopiomelanocortin deficiency +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857854 MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609734 -MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label obesity, early-onset, with adrenal insufficiency and red hair -MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012335 obesity due to pro-opiomelanocortin deficiency skos:closeMatch OMIM:609734 obesity, early-onset, with adrenal insufficiency and red hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, early-onset, with adrenal insufficiency and red hair MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012336 cataract 22 multiple types skos:closeMatch OMIM:609741 cataract 22, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 22, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012336 cataract 22 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609741 MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012339 celiac disease, susceptibility to, 4 skos:closeMatch OMIM:609753 celiac disease, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012340 celiac disease, susceptibility to, 2 skos:closeMatch OMIM:609754 celiac disease, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012341 celiac disease, susceptibility to, 3 skos:closeMatch OMIM:609755 celiac disease, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams-beuren region duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs triplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somerville-van der aa syndrome MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 triplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857844 MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch Orphanet:96121 7q11.23 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609757 -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wbs triplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 triplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch NCIT:C165597 Williams-Beuren Region Duplication Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym somerville-van der aa syndrome -MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label williams-beuren region duplication syndrome +MONDO:0012342 7q11.23 microduplication syndrome skos:closeMatch OMIM:609757 williams-beuren region duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym williams-beuren region duplication syndrome MONDO:0012343 aortic aneurysm, familial abdominal, 2 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609782 -MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609790 -MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad11 +MONDO:0012344 Alzheimer disease 11 skos:closeMatch OMIM:609790 alzheimer disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012344 Alzheimer disease 11 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609790 MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853354 MONDO:0012345 acral peeling skin syndrome skos:closeMatch Orphanet:263534 Acral peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609796 -MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012345 acral peeling skin syndrome skos:closeMatch OMIM:609796 peeling skin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609800 MONDO:0012347 hamartoma, Precalcaneal congenital fibrolipomatous skos:closeMatch OMIM:609808 hamartoma, precalcaneal congenital fibrolipomatous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pcfh -MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-pancreatic exocrine dysfunction syndrome -MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and pancreatic exocrine dysfunction MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609812 +MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes and pancreatic exocrine dysfunction +MONDO:0012348 maturity-onset diabetes of the young type 8 skos:closeMatch OMIM:609812 maturity-onset diabetes of the young, iia 8, with exocrine dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes-pancreatic exocrine dysfunction syndrome MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor h deficiency -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfh deficiency MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:200421 Immunodeficiency with factor H anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 -MONDO:0012350 complement factor H deficiency skos:closeMatch OMIM:609814 complement factor h deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cfh deficiency +MONDO:0012350 complement factor H deficiency skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609814 MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853294 MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zd1 MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:93402 Syndactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 +MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853294 MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 MONDO:0012351 zygodactyly type 1 skos:closeMatch OMIM:609815 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zygodactyly type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012351 zygodactyly type 1 skos:closeMatch Orphanet:295187 Zygodactyly type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 semapv:RegularExpressionReplacement MONDO:0012353 erythrocytosis, familial, 3 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609820 MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853278 MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch Orphanet:36355 Bleeding disorder due to P2Y12 defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609821 -MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder due to p2ry12 defect +MONDO:0012354 platelet-type bleeding disorder 8 skos:closeMatch OMIM:609821 bleeding disorder, platelet-type, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement -MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609823 MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch OMIM:609823 deafness, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609823 +MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 skos:closeMatch NCIT:C129023 Deafness, Autosomal Recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 28 semapv:RegularExpressionReplacement MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch OMIM:609888 leprosy, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, paucibacillary type, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012358 leprosy, susceptibility to, 1 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609888 MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity -MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609889 MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835931 -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012359 combined immunodeficiency due to partial RAG1 deficiency skos:closeMatch Orphanet:231154 Combined immunodeficiency due to partial RAG1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609889 +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0012360 congenital nongoitrous hypothryoidism 3 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012362 dilated cardiomyopathy 1P skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609909 MONDO:0012363 retinitis pigmentosa 32 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609913 -MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609915 +MONDO:0012364 dilated cardiomyopathy 1Q skos:closeMatch OMIM:609915 cardiomyopathy, dilated, 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012367 retinitis pigmentosa 31 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609923 MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609924 MONDO:0012368 aminoacylase 1 deficiency skos:closeMatch Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835922 @@ -20593,110 +20599,110 @@ MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch O MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 skos:closeMatch OMIM:609941 deafness, autosomal recessive 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012371 Noonan syndrome 3 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609942 MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609946 -MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 skos:closeMatch OMIM:609946 deafness, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609952 -MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 skos:closeMatch OMIM:609952 deafness, autosomal recessive 55 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 55 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012377 asperger syndrome, susceptibility to, 4 skos:closeMatch OMIM:609954 asperger syndrome, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asperger syndrome, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch OMIM:609955 fibromatosis, gingival, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609955 -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609965 -MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012378 fibromatosis, gingival, 3 skos:closeMatch OMIM:609955 fibromatosis, gingival, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609968 -MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch OMIM:609965 deafness, autosomal dominant 53 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609965 MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch OMIM:609968 hyperinsulinemic hypoglycemia, familial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012381 hyperinsulinism due to INSR deficiency skos:closeMatch Orphanet:263458 Hyperinsulinism due to INSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609968 MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency, formerly -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609975 -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hadh deficiency MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyacyl-coa dehydrogenase deficiency -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell deficiency, familial isolated +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:309127 3-hydroxyacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 3-hydroxyacyl-coa dehydrogenase deficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hadh deficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schad deficiency +MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609975 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell and glucocorticoid deficiency with dna repair defect -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch OMIM:609981 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym natural killer cell deficiency, familial isolated MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch NCIT:C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label natural killer cell and glucocorticoid deficiency with dna repair defect -MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 4q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch Orphanet:75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pand3 +MONDO:0012384 panic disorder 3 skos:closeMatch OMIM:609985 panic disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder susceptibility locus, chromosome type 4q-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands skos:closeMatch OMIM:609989 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly -MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses with alopecia MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal chondrodysplasia with ectodermal dysplasia -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteosclerosis with ichthyosis and premature ovarian failure +MONDO:0012386 trichoscyphodysplasia skos:closeMatch OMIM:609990 trichoscyphodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cupped metaphyses and cone-shaped epiphyses with alopecia MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteosclerosis with ichthyosis and premature ovarian failure MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing dysplasia of bone with ichthyosis and premature ovarian failure +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteosclerosis with ichthyosis and premature ovarian failure +MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609993 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536064 -MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome skos:closeMatch Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609993 -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive, with mental retardation +MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch OMIM:610003 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 8, northern epilepsy variant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant skos:closeMatch Orphanet:1947 Progressive epilepsy-intellectual disability syndrome, Finnish type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610003 -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methylbutyryl glycinuria MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency -MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610006 +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:610006 2-methylbutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 2-methylbutyryl glycinuria MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864912 +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610006 +MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79157 2-methylbutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short/branched-chain acyl-coa dehydrogenase deficiency +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine deficiency, congenital MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine synthase deficiency, congenital systemic MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutamine deficiency, congenital -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch OMIM:610015 glutamine deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamine deficiency, congenital MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch Orphanet:71278 Congenital brain dysgenesis due to glutamine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610015 MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 -MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 +MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 +MONDO:0012395 cataract 18 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610019 MONDO:0012395 cataract 18 skos:closeMatch OMIM:610019 cataract 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610021 -MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, exercise-induced MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864902 MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch Orphanet:165991 Exercise-induced hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610021 +MONDO:0012396 exercise-induced hyperinsulinism skos:closeMatch OMIM:610021 hyperinsulinemic hypoglycemia, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperinsulinemic hypoglycemia, exercise-induced MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610024 MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012398 retinal cone dystrophy 3A skos:closeMatch OMIM:610024 retinal cone dystrophy 3a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, pde6h-related +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, symmetric or asymmetric MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch Orphanet:300573 Polymicrogyria due to TUBB2B mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610031 -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012399 complex cortical dysplasia with other brain malformations 7 skos:closeMatch OMIM:610031 cortical dysplasia, complex, with other brain malformations 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610042 MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864887 -MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610042 MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, congenital stromal -MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital stromal +MONDO:0012400 cortical dysplasia-focal epilepsy syndrome skos:closeMatch OMIM:610042 pitt-hopkins-like syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pitt-hopkins-like syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864738 MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch Orphanet:101068 Congenital stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610048 +MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, congenital stromal +MONDO:0012401 congenital stromal corneal dystrophy skos:closeMatch OMIM:610048 corneal dystrophy, congenital stromal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, congenital stromal MONDO:0012402 opioid dependence, susceptibility to, 1 skos:closeMatch OMIM:610064 opioid dependence, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ods1 MONDO:0012405 polyposis syndrome, hereditary mixed, 2 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610069 MONDO:0012406 hyperparathyroidism 3 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610071 MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, pyridoxine-resistant, plp-sensitive MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, neonatal, pnpo-related MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxamine type 5-prime-phosphate oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, pyridoxine-resistant, plp-sensitive +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610090 -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864723 MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch OMIM:610090 pyridoxamine 5-prime-phosphate oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency -MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnpo deficiency +MONDO:0012407 pyridoxal phosphate-responsive seizures skos:closeMatch Orphanet:79096 Pyridoxal phosphate-responsive seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864723 MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610092 -MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, and iris abnormalities MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012408 microphthalmia, isolated, with coloboma 3 skos:closeMatch OMIM:610092 microphthalmia, isolated, with coloboma 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, cataracts, and iris abnormalities +MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:251600 microphthalmia, isolated 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated MONDO:0012409 isolated microphthalmia 2 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610093 -MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia, clinical, isolated +MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012409 isolated microphthalmia 2 skos:closeMatch OMIM:610093 microphthalmia, isolated 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864706 MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch Orphanet:399086 Finnish upper limb-onset distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 +MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch OMIM:610099 myopathy, distal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610100 MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch Orphanet:401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2 with giant axons semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal neuropathy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant axonal neuropathy type 2, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -20704,175 +20710,175 @@ MONDO:0012411 giant axonal neuropathy 2 skos:closeMatch OMIM:610100 giant axonal MONDO:0012412 complement component 7 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610102 MONDO:0012412 complement component 7 deficiency skos:closeMatch OMIM:610102 complement component 7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c7 deficiency MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:99001 Butterfly-shaped pigment dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864690 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset, with or without pituitary dysfunction -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch Orphanet:178364 Syndromic microphthalmia type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864690 MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch OMIM:610125 microphthalmia, syndromic 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset, with or without pituitary dysfunction +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, cathepsin d-deficient +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis due to cathepsin d deficiency -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, congenital MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuronal ceroid lipofuscinosis, congenital +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:228337 CLN10 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln10 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610127 -MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, cathepsin d-deficient +MONDO:0012414 neuronal ceroid lipofuscinosis 10 skos:closeMatch OMIM:610127 ceroid lipofuscinosis, neuronal, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610131 MONDO:0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 skos:closeMatch OMIM:610131 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610140 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857829 MONDO:0012417 heart-hand syndrome, Slovenian type skos:closeMatch Orphanet:168796 Heart-hand syndrome, Slovenian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535852 -MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610143 -MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 skos:closeMatch OMIM:610143 deafness, autosomal recessive 62 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, neovascular type, susceptibility to +MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012419 age related macular degeneration 7 skos:closeMatch OMIM:610149 macular degeneration, age-related, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, wet type, susceptibility to +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch NCIT:C129024 Deafness, Autosomal Recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610153 -MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 skos:closeMatch OMIM:610153 deafness, autosomal recessive 49 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610154 -MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement +MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 skos:closeMatch OMIM:610154 deafness, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 44 semapv:RegularExpressionReplacement MONDO:0012422 type 1 diabetes mellitus 19 skos:closeMatch OMIM:610155 iia 1 diabetes mellitus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857802 +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morms MONDO:0012423 MORM syndrome skos:closeMatch OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 -MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610156 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857802 +MONDO:0012423 MORM syndrome skos:closeMatch Orphanet:75858 MORM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536984 +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610158 +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd1 locus -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610158 -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0012426 immunodeficiency 25 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610163 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 -MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch OMIM:610168 loeys-dietz syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:558 Marfan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 +MONDO:0012427 Loeys-Dietz syndrome 2 skos:closeMatch Orphanet:284973 Marfan syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610168 MONDO:0012429 Aicardi-Goutieres syndrome 2 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610181 -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq2 MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610185 +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq2 +MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 skos:closeMatch OMIM:610185 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012431 diaphragmatic hernia 3 skos:closeMatch Orphanet:2140 Congenital diaphragmatic hernia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610187 -MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 +MONDO:0012432 Joubert syndrome 5 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610188 MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610189 MONDO:0012433 Senior-Loken syndrome 6 skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 +MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch OMIM:610193 arrhythmogenic right ventricular dysplasia, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:exactMatch NCIT:C177248 Familial Arrhythmogenic Right Ventricular Dysplasia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial arrhythmogenic right ventricular dysplasia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610193 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610198 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch Orphanet:66634 Dilated cardiomyopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857776 MONDO:0012435 3-methylglutaconic aciduria type 5 skos:closeMatch OMIM:610198 3-methylglutaconic aciduria, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with ataxia -MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, neonatal, with congenital hypothyroidism MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ndh syndrome MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, neonatal, with congenital hypothyroidism +MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch OMIM:610199 diabetes mellitus, neonatal, with congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, neonatal, with congenital hypothyroidism MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism skos:closeMatch Orphanet:79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610199 MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, pulverulent, juvenile-onset -MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610202 MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012437 cataract 21 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610202 +MONDO:0012437 cataract 21 multiple types skos:closeMatch OMIM:610202 cataract 21, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 21, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012438 pontocerebellar hypoplasia type 5 skos:closeMatch OMIM:610204 pontocerebellar hypoplasia, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar hypoplasia, fetal-onset -MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch OMIM:610205 alagille syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610205 MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:closeMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with pulsation MONDO:0012440 migraine with or without aura, susceptibility to, 10 skos:closeMatch OMIM:610208 migraine with or without aura, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr10 MONDO:0012441 migraine with or without aura, susceptibility to, 11 skos:closeMatch OMIM:610209 migraine with or without aura, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mgr11 MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement -MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch OMIM:610212 deafness, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 66 semapv:RegularExpressionReplacement MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610212 -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 +MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch OMIM:610213 aneurysm, intracranial berry, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym karak syndrome MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch OMIM:610217 neurodegeneration with brain iron accumulation 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with brain iron accumulation, pla2g6-related MONDO:0012444 neurodegeneration with brain iron accumulation 2B skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610217 -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement -MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch OMIM:610220 deafness, autosomal recessive 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610220 -MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853258 MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610227 -MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853255 +MONDO:0012446 seborrhea-like dermatitis with psoriasiform elements skos:closeMatch Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853258 +MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement +MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853255 MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:295199 Synpolydactyly type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 -MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012447 synpolydactyly type 3 skos:closeMatch OMIM:610234 synpolydactyly 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synpolydactyly type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012447 synpolydactyly type 3 skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610234 MONDO:0012448 hereditary spastic paraplegia 33 skos:closeMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 33, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012448 hereditary spastic paraplegia 33 skos:closeMatch OMIM:610244 spastic paraplegia 33, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 33, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853250 -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537201 +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch OMIM:610245 spinocerebellar ataxia 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 23 semapv:RegularExpressionReplacement -MONDO:0012449 spinocerebellar ataxia type 23 skos:closeMatch Orphanet:101108 Spinocerebellar ataxia type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610245 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610246 +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537205 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853249 -MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement +MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch Orphanet:101109 Spinocerebellar ataxia type 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610246 MONDO:0012450 spinocerebellar ataxia type 28 skos:closeMatch OMIM:610246 spinocerebellar ataxia 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012451 esophagitis, eosinophilic, 1 skos:closeMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym esophagitis, eosinophilic -MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch OMIM:610248 deafness, autosomal recessive 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610248 -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853247 +MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 31, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610250 +MONDO:0012453 hereditary spastic paraplegia 31 skos:closeMatch Orphanet:101011 Autosomal dominant spastic paraplegia type 31 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853247 MONDO:0012454 alcohol sensitivity, acute skos:closeMatch OMIM:610251 alcohol sensitivity, acute semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hangover, susceptibility to MONDO:0012454 alcohol sensitivity, acute skos:closeMatch NCIT:C78167 Alcohol Intolerance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol intolerance -MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kleefstra syndrome -MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q- syndrome -MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 9q34.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome +MONDO:0012455 Kleefstra syndrome skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 9q34.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012455 Kleefstra syndrome skos:exactMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome -MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label kleefstra syndrome +MONDO:0012455 Kleefstra syndrome skos:exactMatch NCIT:C129976 Kleefstra Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kleefstra syndrome MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537786 -MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002947 -MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt5 +MONDO:0012456 congenital primary aphakia skos:closeMatch Orphanet:83461 Congenital primary aphakia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 +MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012456 congenital primary aphakia skos:closeMatch OMIM:610256 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anterior segment dysgenesis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, body mass-related -MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt6 +MONDO:0012458 hypertension, essential, susceptibility to, 5 skos:closeMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt5 MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, essential, kidney function-related +MONDO:0012459 hypertension, essential, susceptibility to, 6 skos:closeMatch OMIM:610262 hypertension, essential, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt6 MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 skos:closeMatch OMIM:610265 deafness, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -20883,34 +20889,34 @@ MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch Orph MONDO:0012462 autosomal recessive frontotemporal pachygyria skos:closeMatch OMIM:610279 pachygyria, frontotemporal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachygyria, frontotemporal MONDO:0012463 retinitis pigmentosa 35 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610282 MONDO:0012464 cone-rod dystrophy 10 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610283 +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigm deficiency MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853205 MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610293 -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch Orphanet:83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital disorder of glycosylation due to pigm deficiency -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol deficiency MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol deficiency +MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency skos:closeMatch OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012466 Parkinson disease 13, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610297 -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch Orphanet:157820 Cold-induced sweating syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610313 +MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012467 cold-induced sweating syndrome 2 skos:closeMatch OMIM:610313 crisponi/cold-induced sweating syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crisponi/cold-induced sweating syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer aggressiveness MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610321 +MONDO:0012470 prostate cancer, hereditary, 7 skos:closeMatch OMIM:610321 prostate cancer, hereditary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prostate cancer aggressiveness MONDO:0012471 Aicardi-Goutieres syndrome 3 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610329 MONDO:0012472 Aicardi-Goutieres syndrome 4 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610333 -MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arpa, familial -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 +MONDO:0012473 right pulmonary artery, anomalous origin of, familial skos:closeMatch OMIM:610338 right pulmonary artery, anomalous origin of, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym right pulmonary artery, anomalous origin of, with ventricular septal defect, patent foramen ovale, and patent ductus arteriosus MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial, with nocturnal wandering and ictal fear -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch OMIM:610353 epilepsy, nocturnal frontal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with night blindness and supernormal rod responses, kcnv2-related +MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal cone dystrophy type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch OMIM:610356 retinal cone dystrophy 3b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone dystrophy with supernormal rod responses MONDO:0012475 cone dystrophy with supernormal rod response skos:closeMatch Orphanet:209932 Cone dystrophy with supernormal rod response semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610356 MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch OMIM:610357 spastic paraplegia 30, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 30, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012476 hereditary spastic paraplegia 30 skos:closeMatch Orphanet:101010 Autosomal spastic paraplegia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610357 @@ -20919,87 +20925,87 @@ MONDO:0012477 retinitis pigmentosa 33 skos:closeMatch Orphanet:791 Retinitis pig MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 MONDO:0012478 orofacial cleft 9 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610361 -MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610370 MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch OMIM:610370 diarrhea 4, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 4, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012479 congenital malabsorptive diarrhea 4 skos:closeMatch Orphanet:83620 Enteric anendocrinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610370 MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch OMIM:610374 diabetes mellitus, transient neonatal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm2 MONDO:0012480 diabetes mellitus, transient neonatal, 2 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610374 -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 +MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610377 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072219 -MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610377 MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:343 Hyperimmunoglobulinemia D with periodic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398691 +MONDO:0012481 mevalonic aciduria skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959626 MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch Orphanet:83476 West-Nile encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610379 MONDO:0012482 West Nile virus, susceptibility to skos:closeMatch OMIM:610379 west nile virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wnv, susceptibility to MONDO:0012483 cone-rod dystrophy 11 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610381 +MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, congenital MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym face blindness MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, developmental -MONDO:0012484 prosopagnosia, hereditary skos:closeMatch OMIM:610382 prosopagnosia, hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosopagnosia, congenital -MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610419 MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 skos:closeMatch OMIM:610419 deafness, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610422 MONDO:0012487 alopecia-intellectual disability syndrome 2 skos:closeMatch OMIM:610422 alopecia-intellectual disability syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apmr2 -MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis b virus, resistance to -MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, resistance to MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, susceptibility to +MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hbv, resistance to +MONDO:0012488 hepatitis B virus, susceptibility to skos:closeMatch OMIM:610424 hepatitis B virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis b virus, resistance to +MONDO:0012489 cataract 23 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610425 MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012489 cataract 23 skos:closeMatch OMIM:610425 cataract 23, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 23, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012489 cataract 23 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610425 MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch OMIM:610427 cone-rod synaptic disorder, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, incomplete, autosomal recessive, formerly MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610427 -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610430 -MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 +MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglobulinemia, waldenstrom, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012491 macroglobulinemia, Waldenstrom, 2 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610430 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 -MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610442 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864872 +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepimetaphyseal dysplasia, geneviève type +MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535785 MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type skos:closeMatch OMIM:610442 spondyloepimetaphyseal dysplasia, genevieve iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nans deficiency MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microdeletion type 17q21.31 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch OMIM:610443 koolen-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q21.31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 +MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:96169 Koolen-De Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label koolen-de vries syndrome MONDO:0012496 Koolen-de Vries syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610443 -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610444 -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012497 congenital stationary night blindness autosomal dominant 3 skos:closeMatch OMIM:610444 night blindness, congenital stationary, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, rhodopsin-related +MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch OMIM:610445 night blindness, congenital stationary, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label night blindness, congenital stationary, autosomal dominant type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012498 congenital stationary night blindness autosomal dominant 1 skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610445 MONDO:0012499 Buruli ulcer, susceptibility to skos:closeMatch OMIM:610446 buruli ulcer, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mycobacterium ulcerans, susceptibility to MONDO:0012500 chilblain lupus 1 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610448 -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcinosis, tumoral, with normophosphatemia -MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, normophosphatemic, familial MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, normophosphatemic, familial +MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, normophosphatemic, familial +MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch OMIM:610455 tumoral calcinosis, normophosphatemic, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym calcinosis, tumoral, with normophosphatemia MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial normophosphatemic tumoral calcinosis MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:306658 Familial normophosphatemic tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 MONDO:0012502 normophosphatemic familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610455 -MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch NCIT:C4389 Thiopurine Methyltransferase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurine methyltransferase deficiency -MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly, tall stature, and hearing loss syndrome -MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, tall stature, and hearing loss syndrome +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch OMIM:610460 thiopurines, poor metabolism of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiopurines, poor metabolism of, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864852 MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch Orphanet:85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610474 -MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, tall stature, and hearing loss syndrome +MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome skos:closeMatch OMIM:610474 camptodactyly, tall stature, and hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label camptodactyly, tall stature, and hearing loss syndrome MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad2 MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch OMIM:610475 pigmented nodular adrenocortical disease, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610476 +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11, and mild palmoplantar keratoderma with or without woolly hair semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch OMIM:610476 arrhythmogenic right ventricular dysplasia, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610476 MONDO:0012507 retinal cone dystrophy 4 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610478 +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610483 MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia, microcephaly, and severe dermatitis MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch OMIM:610483 agammaglobulinemia, microcephaly, and severe dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, microcephaly, and severe dermatitis -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome skos:closeMatch Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610483 MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad1 MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocortical nodular dysplasia, primary MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch OMIM:610489 pigmented nodular adrenocortical disease, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented micronodular adrenocortical disorder, primary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -21007,19 +21013,19 @@ MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMat MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864843 MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch Orphanet:254920 Combined oxidative phosphorylation defect type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610498 -MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, respiratory failure, and lactic acidosis +MONDO:0012510 combined oxidative phosphorylation defect type 2 skos:closeMatch OMIM:610498 combined oxidative phosphorylation deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym concentric cardiomyopathy, hypotonia, and lactic acidosis MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch Orphanet:168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610505 -MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 skos:closeMatch OMIM:610505 combined oxidative phosphorylation deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalomyopathy, respiratory failure, and lactic acidosis MONDO:0012513 maturity-onset diabetes of the young type 7 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610508 -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864663 MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610532 +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch Orphanet:85163 Hypomyelination-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864663 +MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination and congenital cataract: hcc MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012514 hypomyelinating leukodystrophy 5 skos:closeMatch OMIM:610532 leukodystrophy, hypomyelinating, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination and congenital cataract: hcc MONDO:0012515 glaucoma 1, open angle, M skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610535 MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch OMIM:610536 mandibulofacial dysostosis, guion-almeida iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome skos:closeMatch Orphanet:79113 Mandibulofacial dysostosis-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864652 @@ -21029,17 +21035,17 @@ MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch OMIM:6 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864651 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 MONDO:0012517 Gaucher disease due to saposin C deficiency skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610539 +MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610542 MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012518 congenital myasthenic syndrome 12 skos:closeMatch OMIM:610542 myasthenic syndrome, congenital, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi deletion syndrome MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rsts deletion syndrome -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch OMIM:610543 chromosome 16p13.3 deletion syndrome, proximal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p13.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 +MONDO:0012519 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion skos:closeMatch Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610543 MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-resistant, with acanthosis nigricans MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diabetes mellitus, insulin-resistant, with acanthosis nigricans MONDO:0012520 insulin-resistance syndrome type A skos:closeMatch OMIM:610549 diabetes mellitus, insulin-resistant, with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans @@ -21048,233 +21054,233 @@ MONDO:0012521 herpes simplex encephalitis skos:closeMatch Orphanet:1930 Herpes s MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610582 MONDO:0012522 diabetes mellitus, transient neonatal, 3 skos:closeMatch OMIM:610582 diabetes mellitus, transient neonatal, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tndm3 MONDO:0012523 retinitis pigmentosa 36 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610599 -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency due to deficiency of steroid type 18-oxidase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-oxidase deficiency +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cmo type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperreninemic hypoaldosteronism, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 18-oxidase deficiency +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym steroid type 18-oxidase deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch Orphanet:427 Familial hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610600 +MONDO:0012524 corticosterone methyloxidase type 2 deficiency skos:closeMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosterone deficiency due to deficiency of steroid type 18-oxidase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012525 Leber congenital amaurosis 12 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610612 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-related hae -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae with normal c1 inhibitor concentration and function -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 3 semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-sensitive hae MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 3 semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary angioedema with normal c1 inhibitor activity -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-sensitive hae +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae with normal c1 inhibitor concentration and function +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 3 semapv:RegularExpressionReplacement +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen-related hae MONDO:0012526 hereditary angioedema type 3 skos:closeMatch OMIM:610618 angioedema, hereditary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch Orphanet:100054 F12-related hereditary angioedema with normal C1Inh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hae type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp4 -MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11 with microphthalmia and neurodevelopmental abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11 with microphthalmia and neurodevelopmental abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 11, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012527 cataract 11 multiple types skos:closeMatch OMIM:610623 cataract 11, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cpp4 MONDO:0012527 cataract 11 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610623 -MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 +MONDO:0012528 hypogonadotropic hypogonadism 4 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610628 MONDO:0012529 Diamond-Blackfan anemia 3 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610629 -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610644 MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis and true hermaphroditism MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch Orphanet:85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610644 -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 +MONDO:0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome skos:closeMatch OMIM:610644 palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar hyperkeratosis with squamous cell carcinoma of skin and type 46,xx sex reversal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpb/cs MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum, complementation group b -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xpb/cs -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum b/cockayne syndrome -MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610651 +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch NCIT:C3966 Xeroderma Pigmentosum, Complementation Group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xeroderma pigmentosum, complementation group b +MONDO:0012531 xeroderma pigmentosum group B skos:closeMatch OMIM:610651 xeroderma pigmentosum, complementation group B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xeroderma pigmentosum b/cockayne syndrome MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610655 -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610678 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857682 -MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch Orphanet:254925 Combined oxidative phosphorylation defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610678 MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 +MONDO:0012534 combined oxidative phosphorylation defect type 4 skos:closeMatch OMIM:610678 combined oxidative phosphorylation deficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 -MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 +MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 +MONDO:0012536 osteogenesis imperfecta type 7 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610682 MONDO:0012537 split-hand/foot malformation with long bone deficiency 2 skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610685 MONDO:0012538 nemaline myopathy 7 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610687 MONDO:0012539 Joubert syndrome 6 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610688 MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012540 age related macular degeneration 4 skos:closeMatch OMIM:610698 macular degeneration, age-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with lamm +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with inner ear agenesis, microtia, and microdontia +MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with inner ear agenesis, microtia, and microdontia MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610706 MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853144 -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, congenital, with inner ear agenesis, microtia, and microdontia MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with labyrinthine aplasia, microtia, and microdontia -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, with inner ear agenesis, microtia, and microdontia -MONDO:0012541 deafness with labyrinthine aplasia, microtia, and microdontia skos:closeMatch OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness with lamm MONDO:0012543 optic atrophy 5 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610708 -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-syndactyly, zhao type +MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610713 MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bdsd MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch OMIM:610713 brachydactyly-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly-syndactyly-oligodactyly syndrome -MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610713 -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610717 -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder without ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012544 brachydactyly-syndactyly syndrome skos:closeMatch Orphanet:93409 Brachydactyly-syndactyly, Zhao type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brachydactyly-syndactyly, zhao type MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder with myopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch OMIM:610717 neutral lipid storage disease with myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral lipid storage disorder without ichthyosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012545 neutral lipid storage myopathy skos:closeMatch Orphanet:98908 Neutral lipid storage myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610717 MONDO:0012546 nephrotic syndrome, type 3 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610725 MONDO:0012547 Noonan syndrome 4 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610733 MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kostmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agranulocytosis, infantile MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012548 Kostmann syndrome skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012548 Kostmann syndrome skos:closeMatch Orphanet:99749 Kostmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610743 -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853116 -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683483 -MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, recessive, of beauce MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, recessive, of beauce MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch OMIM:610743 spinocerebellar ataxia, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853116 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610743 +MONDO:0012549 autosomal recessive ataxia, Beauce type skos:closeMatch Orphanet:88644 Autosomal recessive ataxia, Beauce type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683483 MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 MONDO:0012551 alopecia areata 2 skos:closeMatch Orphanet:701 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610753 -MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970712 MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610755 -MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 +MONDO:0012552 multiple endocrine neoplasia type 4 skos:closeMatch Orphanet:276152 Multiple endocrine neoplasia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970712 MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 +MONDO:0012553 cerebrooculofacioskeletal syndrome 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610756 MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 MONDO:0012554 cerebrooculofacioskeletal syndrome 4 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610758 MONDO:0012555 Cornelia de Lange syndrome 3 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610759 +MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610768 MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dk1 deficiency MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch OMIM:610768 congenital disorder of glycosylation, iia im semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg im -MONDO:0012556 DK1-congenital disorder of glycosylation skos:closeMatch Orphanet:91131 DK1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610768 -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial phosphate carrier deficiency +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial phosphate carrier deficiency MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835845 MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mpcd -MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial phosphate carrier deficiency +MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch OMIM:610773 mitochondrial phosphate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial phosphate carrier deficiency MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome skos:closeMatch Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610773 MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835829 MONDO:0012559 primary immunodeficiency syndrome due to p14 deficiency skos:closeMatch Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610798 MONDO:0012562 holoprosencephaly 7 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610828 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93924 Lobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch OMIM:610829 holoprosencephaly 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with microphthalmia and first branchial arch anomalies -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280200 Microform holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:280195 Septopreoptic holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group n -MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch OMIM:610829 holoprosencephaly 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly with microphthalmia and first branchial arch anomalies +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:93926 Midline interhemispheric variant of holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 +MONDO:0012563 holoprosencephaly 9 skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610829 MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610832 MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch NCIT:C176894 Fanconi Anemia, Complementation Group N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n +MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group n +MONDO:0012565 Fanconi anemia complementation group N skos:closeMatch OMIM:610832 fanconi anemia, complementation group n semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group n MONDO:0012568 osteoarthritis susceptibility 4 skos:closeMatch OMIM:610839 osteoarthritis susceptibility 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis, generalized, without dysplasia -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610840 -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835813 -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency -MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610842 +MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch OMIM:610840 mitral valve prolapse 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012569 mitral valve prolapse, myxomatous 3 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610840 MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pxe-like disorder with multiple coagulation factor deficiency +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835813 MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency -MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch Orphanet:91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610842 +MONDO:0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency skos:closeMatch OMIM:610842 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610852 -MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate +MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012571 primary ciliary dyskinesia 6 skos:closeMatch OMIM:610852 ciliary dyskinesia, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sakoda spectrum +MONDO:0012572 Sakoda complex skos:closeMatch OMIM:610871 sakoda complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft lip/palate MONDO:0012573 vesicoureteral reflux 2 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610878 MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610883 MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch Orphanet:1713 17p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931246 MONDO:0012574 Potocki-Lupski syndrome skos:closeMatch OMIM:610883 potocki-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p11.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012575 branchiootorenal syndrome 2 skos:closeMatch Orphanet:107 BOR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610896 -MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 +MONDO:0012576 supranuclear palsy, progressive, 3 skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610898 MONDO:0012577 asthma-related traits, susceptibility to, 4 skos:closeMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma and allergic rhinitis, susceptibility to -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, autoimmune -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970472 MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar lipoproteinosis, acquired -MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610910 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, acquired MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary alveolar proteinosis, acquired +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610910 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap, acquired +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch Orphanet:747 Autoimmune pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970472 +MONDO:0012579 autoimmune pulmonary alveolar proteinosis skos:closeMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, autoimmune MONDO:0012580 hereditary pulmonary alveolar proteinosis skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931035 -MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216804 Osteogenesis imperfecta type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012581 osteogenesis imperfecta type 8 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610915 MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surfactant metabolism dysfunction, pulmonary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012582 interstitial lung disease due to ABCA3 deficiency skos:closeMatch Orphanet:440402 Interstitial lung disease due to ABCA3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610921 -MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he-zhao deficiency MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodontia/oligodontia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch OMIM:610926 tooth agenesis, selective, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym he-zhao deficiency MONDO:0012583 tooth agenesis, selective, 5 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610926 MONDO:0012587 hypertension, essential, susceptibility to, 7 skos:closeMatch OMIM:610948 hypertension, essential, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyt7 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch OMIM:610951 ceroid lipofuscinosis, neuronal, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610951 -MONDO:0012588 neuronal ceroid lipofuscinosis 7 skos:closeMatch Orphanet:228366 CLN7 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln7 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970431 +MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, syndromal, with intermittent hyperventilation MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610954 MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537403 -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, syndromal, with intermittent hyperventilation MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch OMIM:610954 pitt-hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, severe epileptic, with autonomic dysfunction -MONDO:0012589 Pitt-Hopkins syndrome skos:closeMatch Orphanet:2896 Pitt-Hopkins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970431 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970414 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:216828 Osteogenesis imperfecta type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 MONDO:0012591 osteogenesis imperfecta type 5 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610967 -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 -MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 +MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 +MONDO:0012592 osteogenesis imperfecta type 11 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610968 MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch Orphanet:209905 Brain-lung-thyroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610978 -MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction -MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012593 brain-lung-thyroid syndrome skos:closeMatch OMIM:610978 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610984 MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency with factor i anomaly MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463916 -MONDO:0012594 complement factor I deficiency skos:closeMatch Orphanet:200418 Immunodeficiency with factor I anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610984 +MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012594 complement factor I deficiency skos:closeMatch OMIM:610984 complement factor 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch OMIM:610988 leprosy, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, early-onset, susceptibility to MONDO:0012595 leprosy, susceptibility to, 4 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610988 MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970253 MONDO:0012596 PSAT deficiency skos:closeMatch Orphanet:284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610992 MONDO:0012597 prostate cancer, hereditary, 9 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610997 -MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611010 MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch OMIM:611010 fibromatosis, gingival, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement +MONDO:0012598 fibromatosis, gingival, 4 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611010 MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement +MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch OMIM:611022 deafness, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611022 MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch OMIM:611031 episodic kinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012603 episodic kinesigenic dyskinesia 2 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611031 MONDO:0012604 isolated microphthalmia 3 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611038 -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611040 +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch Orphanet:251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970236 +MONDO:0012605 isolated microphthalmia 5 skos:closeMatch OMIM:611040 microphthalmia, isolated 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch OMIM:611067 spinal muscular atrophy, distal, autosomal recessive, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970211 MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:206580 Autosomal recessive lower motor neuron disease with childhood onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 -MONDO:0012608 autosomal recessive lower motor neuron disease with childhood onset skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611067 -MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611073 MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ad12 MONDO:0012609 Alzheimer disease 12 skos:closeMatch OMIM:611073 alzheimer disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012609 Alzheimer disease 12 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611073 MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyhydramnios-megalencephaly-symptomatic epilepsy syndrome MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy skos:closeMatch Orphanet:500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611087 -MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch OMIM:611090 intellectual developmental disorder, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt12 +MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch OMIM:611091 intellectual developmental disorder, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt5 -MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 +MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch OMIM:611092 intellectual developmental disorder, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt6 +MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt7 MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch OMIM:611093 intellectual developmental disorder, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt7 MONDO:0012615 intellectual disability, autosomal recessive 7 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611093 -MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611095 MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch OMIM:611095 intellectual developmental disorder, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611095 MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch OMIM:611096 intellectual developmental disorder, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -21282,203 +21288,203 @@ MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch Or MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch OMIM:611097 intellectual developmental disorder, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012620 prostate cancer, hereditary, 10 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611100 MONDO:0012621 deafness-infertility syndrome skos:closeMatch Orphanet:94064 Deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611102 -MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, and male infertility MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q15.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012621 deafness-infertility syndrome skos:closeMatch OMIM:611102 deafness-infertility syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, and male infertility MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation -MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial aspartyl-trna synthetase deficiency MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch Orphanet:137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611105 +MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial aspartyl-trna synthetase deficiency MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome skos:closeMatch OMIM:611105 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation -MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 +MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch OMIM:611107 intellectual developmental disorder, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970173 MONDO:0012625 retinitis pigmentosa 37 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611131 -MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611134 -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 +MONDO:0012626 Meckel syndrome, type 4 skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, childhood absence, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch OMIM:611136 epilepsy, idiopathic generalized, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611136 -MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611147 MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611147 MONDO:0012630 Alzheimer disease 13 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611152 MONDO:0012631 Alzheimer disease 14 skos:closeMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611154 +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611174 +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome +MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hamamy syndrome MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch OMIM:611174 hamamy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hamamy syndrome -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611174 -MONDO:0012634 craniofacial dysplasia - osteopenia syndrome skos:closeMatch Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970027 -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch OMIM:611182 congenital disorder of glycosylation, iia iih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iih -MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611182 MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970021 +MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch Orphanet:95428 COG8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611182 +MONDO:0012635 COG8-congenital disorder of glycosylation skos:closeMatch OMIM:611182 congenital disorder of glycosylation, iia iih semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iih MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iig MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch OMIM:611209 congenital disorder of glycosylation, iia iig semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdgii/cog1 cerebrocostomandibular-like syndrome MONDO:0012637 COG1-congenital disorder of glycosylation skos:closeMatch Orphanet:263508 COG1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611209 -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and brain atrophy MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability, motor dysfunction, and joint contractures +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and brain atrophy +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch OMIM:611222 microphthalmia, syndromic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch Orphanet:77299 Microphthalmia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 +MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal recessive spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611225 MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability, motor dysfunction, and joint contractures MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch OMIM:611225 spastic paraplegia 18, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 18, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012639 hereditary spastic paraplegia 18 skos:closeMatch Orphanet:209951 Autosomal recessive spastic paraplegia type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611225 MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970011 MONDO:0012640 Charcot-Marie-Tooth disease type 4J skos:closeMatch Orphanet:139515 Charcot-Marie-Tooth disease type 4J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611228 MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012642 major affective disorder 4 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970009 MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1970009 +MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch OMIM:611252 spastic paraplegia 32, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 32, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012643 hereditary spastic paraplegia 32 skos:closeMatch Orphanet:171622 Autosomal recessive spastic paraplegia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611252 MONDO:0012644 asphyxiating thoracic dystrophy 2 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611263 MONDO:0012645 glaucoma 1, open angle, N skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611274 +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535541 -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969809 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ibd deficiency MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acyl-coa dehydrogenase family, member type 8, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch OMIM:611283 isobutyryl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acad8 deficiency -MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611283 +MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:79159 Isobutyryl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969809 MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch Orphanet:169079 Cernunnos-XLF deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611291 -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhej1 syndrome MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation -MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and sensitivity to ionizing radiation +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, and sensitivity to ionizing radiation due to nhej1 deficiency +MONDO:0012650 Cernunnos-XLF deficiency skos:closeMatch OMIM:611291 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nhej1 syndrome MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012651 spastic ataxia 2 skos:closeMatch Orphanet:397946 Autosomal spastic paraplegia type 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611302 MONDO:0012651 spastic ataxia 2 skos:closeMatch OMIM:611302 spastic ataxia 2, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 2, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611307 MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2l MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969785 -MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L skos:closeMatch Orphanet:206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611307 MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611308 -MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 +MONDO:0012654 atrial septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611363 MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611364 MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969655 MONDO:0012656 lethal congenital contracture syndrome 3 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611369 -MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities -MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 +MONDO:0012657 Mungan syndrome skos:closeMatch OMIM:611376 mungan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, barrett esophagus, and cardiac abnormalities MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969652 +MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 MONDO:0012658 brachydactyly type B2 skos:closeMatch Orphanet:140908 Brachydactyly type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611377 -MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012659 age related macular degeneration 9 skos:closeMatch OMIM:611378 macular degeneration, age-related, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012660 susceptibility to visceral leishmaniasis, 2 skos:closeMatch OMIM:611381 kala-azar, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 +MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kala-azar, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012661 susceptibility to visceral leishmaniasis, 3 skos:closeMatch OMIM:611382 kala-azar, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leishmaniasis, visceral, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 +MONDO:0012662 Usher syndrome type 2D skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611383 +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia with leukoencephalopathy MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969645 MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611390 MONDO:0012664 spastic ataxia 3 skos:closeMatch Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia with leukoencephalopathy -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012664 spastic ataxia 3 skos:closeMatch OMIM:611390 spastic ataxia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia with leukoencephalopathy MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012665 cataract 33 skos:closeMatch OMIM:611391 cataract 33, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 33, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 MONDO:0012665 cataract 33 skos:closeMatch Orphanet:98991 Early-onset nuclear cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 +MONDO:0012665 cataract 33 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611391 MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611407 MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012667 dilated cardiomyopathy 1W skos:closeMatch OMIM:611407 cardiomyopathy, dilated, 1w semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1w semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome semapv:RegularExpressionReplacement -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 -MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611431 +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1-like syndrome semapv:RegularExpressionReplacement MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969623 -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement +MONDO:0012669 Legius syndrome skos:closeMatch Orphanet:137605 Legius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548032 +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611451 -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement +MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 skos:closeMatch OMIM:611451 deafness, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 63 semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:narrowMatch ICD10CM:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement -MONDO:0012672 cholelithiasis skos:narrowMatch ICD10WHO:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gallbladder disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012672 cholelithiasis skos:closeMatch OMIM:611465 gallbladder disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gallbladder disorder type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012672 cholelithiasis skos:narrowMatch ICD10WHO:K80.8 Other cholelithiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cholelithiasis semapv:RegularExpressionReplacement MONDO:0012673 colorectal cancer, susceptibility to, 2 skos:closeMatch OMIM:611469 colorectal cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 8q24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012674 age related macular degeneration 10 skos:closeMatch OMIM:611488 macular degeneration, age-related, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611489 +MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbg deficiency MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch OMIM:611489 corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticosteroid-binding globulin, elevated -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852529 -MONDO:0012675 corticosteroid-binding globulin deficiency skos:closeMatch Orphanet:199247 Corticosteroid-binding globulin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611489 +MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 +MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, infantile malignant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch OMIM:611490 osteopetrosis, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012676 autosomal recessive osteopetrosis 4 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611490 MONDO:0012677 atrial fibrillation, familial, 4 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611493 MONDO:0012678 atrial fibrillation, familial, 5 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611494 -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive, intermediate form -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611497 -MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intermediate osteopetrosis MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969093 +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intermediate osteopetrosis +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch Orphanet:210110 Intermediate osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611497 +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive, intermediate form +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012679 autosomal recessive osteopetrosis 6 skos:closeMatch OMIM:611497 osteopetrosis, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012680 nephronophthisis 7 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611498 MONDO:0012681 febrile seizures, familial, 7 skos:closeMatch OMIM:611515 febrile seizures, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611521 MONDO:0012682 immunodeficiency 35 skos:closeMatch Orphanet:331226 Susceptibility to infection due to TYK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969086 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969084 +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611523 -MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch OMIM:611523 pontocerebellar hypoplasia, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, fatal infantile, with mitochondrial respiratory chain defects -MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012683 pontocerebellar hypoplasia type 6 skos:closeMatch Orphanet:166073 Pontocerebellar hypoplasia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548074 MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch OMIM:611528 arrhythmogenic right ventricular dysplasia, familial, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arrhythmogenic right ventricular dysplasia, familial, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 skos:closeMatch Orphanet:217656 Familial isolated arrhythmogenic right ventricular dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611528 -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012685 major affective disorder 5 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012686 major affective disorder 6 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cavitary optic disc anomalies MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch OMIM:611543 cavitary optic disc anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavitary optic disc anomalies MONDO:0012687 familial cavitary optic disc anomaly skos:closeMatch Orphanet:464760 Familial cavitary optic disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611543 MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611544 MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital nuclear, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012688 cataract 17 multiple types skos:closeMatch OMIM:611544 cataract 17, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 17, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012688 cataract 17 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611544 MONDO:0012689 premature ovarian failure 5 skos:closeMatch OMIM:611548 premature ovarian failure 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof5 MONDO:0012690 Noonan syndrome 5 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611553 MONDO:0012691 LEOPARD syndrome 2 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611554 MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen synthase deficiency MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611556 +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen storage disorder type 0 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle glycogen synthase deficiency -MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch OMIM:611556 glycogen storage disease 0, muscle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 0, muscle semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency skos:closeMatch Orphanet:137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 0b semapv:RegularExpressionReplacement MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 MONDO:0012694 Joubert syndrome 7 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611560 @@ -21487,73 +21493,73 @@ MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:895 Waardenb MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ws2e, with or without neurologic involvement MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch OMIM:611584 waardenburg syndrome, iia 2e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation MONDO:0012698 Waardenburg syndrome type 2E skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611584 -MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969040 MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611588 -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 +MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M skos:closeMatch Orphanet:206554 Fukutin-related limb-girdle muscular dystrophy R13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969040 MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1969038 -MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, distal, with normal red cell morphology MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 -MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611597 -MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch OMIM:611590 renal tubular acidosis, distal, 4, with hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal tubular acidosis, distal, with normal red cell morphology +MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia skos:closeMatch Orphanet:93610 Distal renal tubular acidosis with anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611590 MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012701 cataract 12 multiple types skos:closeMatch OMIM:611597 cataract 12, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 12, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012701 cataract 12 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611597 MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012702 celiac disease, susceptibility to, 6 skos:closeMatch OMIM:611598 celiac disease, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 MONDO:0012703 lissencephaly due to TUBA1A mutation skos:exactMatch Orphanet:102011 Lissencephaly type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 3 semapv:RegularExpressionReplacement -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611615 +MONDO:0012703 lissencephaly due to TUBA1A mutation skos:closeMatch Orphanet:171680 Lissencephaly due to TUBA1A mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611603 MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, with mild or no proximal muscle weakness -MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial mesial temporal lobe -MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611615 +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012704 dilated cardiomyopathy 1X skos:closeMatch OMIM:611615 cardiomyopathy, dilated, 1x semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch OMIM:611630 epilepsy, familial temporal lobe, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial mesial temporal lobe MONDO:0012705 familial temporal lobe epilepsy 3 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611630 -MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, occipitotemporal lobe, and migraine with aura +MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch OMIM:611631 epilepsy, familial temporal lobe, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012706 familial temporal lobe epilepsy 4 skos:closeMatch Orphanet:98819 Familial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611631 -MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile convulsions, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012707 familial febrile seizures 9 skos:closeMatch OMIM:611634 febrile seizures, familial, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pls, adult -MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611637 MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012708 primary lateral sclerosis, adult, 1 skos:closeMatch OMIM:611637 primary lateral sclerosis, adult, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary lateral sclerosis, adult, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012709 microphthalmia, isolated, with coloboma 5 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611638 MONDO:0012710 Hirschsprung disease, susceptibility to, 9 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611644 MONDO:0012711 peripapillary atrophy, beta type skos:closeMatch OMIM:611650 peripapillary atrophy, beta iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ppa MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch OMIM:611705 congenital myopathy 5 with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, early-onset, with fatal cardiomyopathy -MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673677 -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 +MONDO:0012714 early-onset myopathy with fatal cardiomyopathy skos:closeMatch Orphanet:289377 Early-onset myopathy with fatal cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611705 MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia-brachydactyly and distinctive speech MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia-brachydactyly and distinctive speech MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673649 +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch OMIM:611717 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatoo dysplasia -MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, renal, normocalciuric +MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012717 renal hypomagnesemia 4 skos:closeMatch OMIM:611718 hypomagnesemia 4, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 4, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673642 MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611719 -MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611721 -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosaposin deficiency +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673642 +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia skos:closeMatch OMIM:611719 combined oxidative phosphorylation deficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined saposin deficiency +MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prosaposin deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined saposin deficiency MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined sap deficiency -MONDO:0012719 combined PSAP deficiency skos:closeMatch OMIM:611721 combined saposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined saposin deficiency -MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611722 +MONDO:0012719 combined PSAP deficiency skos:closeMatch Orphanet:139406 Encephalopathy due to prosaposin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611721 MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch OMIM:611722 krabbe disease, atypical, due to saposin a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym saposin a deficiency +MONDO:0012720 Krabbe disease due to saposin A deficiency skos:closeMatch Orphanet:487 Krabbe disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611722 +MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673257 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive myoclonic epilepsy type 3 semapv:RegularExpressionReplacement MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611726 -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch Orphanet:263516 Progressive myoclonic epilepsy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673257 MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012721 progressive myoclonic epilepsy type 3 skos:closeMatch OMIM:611726 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012722 Dauwerse-Peters syndrome skos:closeMatch OMIM:611733 dauwerse-peters syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, facial dysmorphism, severe brachydactyly, and syndactyly MONDO:0012723 Leber congenital amaurosis 10 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611755 MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet:247868 NLRP12-associated hereditary periodic fever syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673198 @@ -21561,140 +21567,140 @@ MONDO:0012724 familial cold autoinflammatory syndrome 2 skos:closeMatch Orphanet MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611771 MONDO:0012725 lipoprotein glomerulopathy skos:closeMatch Orphanet:329481 Lipoprotein glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673196 MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673195 +MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611773 MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch OMIM:611773 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps -MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome skos:closeMatch Orphanet:73229 HANAC syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611773 -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kd +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile polyarteritis +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch NCIT:C34825 Kawasaki Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026691 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611775 -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch NCIT:C34825 Kawasaki Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023320 MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch Orphanet:2331 Kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile polyarteritis -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kd -MONDO:0012727 mucocutaneous lymph node syndrome skos:closeMatch OMIM:611775 kawasaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kawasaki disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012728 Brugada syndrome 2 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611777 MONDO:0012729 erythrocytosis, familial, 4 skos:closeMatch Orphanet:247511 Autosomal dominant secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611783 -MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thoracic aortic aneurysm with livedo reticularis and iris flocculi MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611788 -MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611804 +MONDO:0012730 aortic aneurysm, familial thoracic 6 skos:closeMatch OMIM:611788 aortic aneurysm, familial thoracic 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thoracic aortic aneurysm with livedo reticularis and iris flocculi MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym protein type 4.1 of erythrocyte membrane, defect of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1- trait MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1-minus trait -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bestrophinopathy, autosomal recessive -MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bestrophinopathy, autosomal recessive +MONDO:0012731 elliptocytosis 1 skos:closeMatch OMIM:611804 elliptocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 4.1- trait +MONDO:0012731 elliptocytosis 1 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611804 MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch Orphanet:139455 Autosomal recessive bestrophinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611809 +MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bestrophinopathy, autosomal recessive +MONDO:0012733 autosomal recessive bestrophinopathy skos:closeMatch OMIM:611809 bestrophinopathy, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bestrophinopathy, autosomal recessive +MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs +MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678492 MONDO:0012734 SERKAL syndrome skos:closeMatch Orphanet:139466 SERKAL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611812 -MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs -MONDO:0012734 SERKAL syndrome skos:closeMatch OMIM:611812 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611816 MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch Orphanet:420561 Temple-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678486 MONDO:0012735 Temple-Baraitser syndrome skos:closeMatch OMIM:611816 temple-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, severe, and absent nails of hallux and pollex +MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 9, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012736 long QT syndrome 9 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 9, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 MONDO:0012736 long QT syndrome 9 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611818 -MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 +MONDO:0012737 long QT syndrome 10 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611819 MONDO:0012737 long QT syndrome 10 skos:closeMatch OMIM:611819 long qt syndrome 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 +MONDO:0012738 long QT syndrome 11 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611820 MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611863 MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch Orphanet:139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678482 MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with nasolacrimal duct imperforation and eye coloboma MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome skos:closeMatch OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia with nasolacrimal duct imperforation and eye coloboma +MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611867 MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch Orphanet:261330 Distal 22q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678480 -MONDO:0012740 chromosome 22q11.2 deletion syndrome, distal skos:closeMatch OMIM:611867 chromosome 22q11.2 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 22q11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012741 prostate cancer, hereditary, 12 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611868 MONDO:0012742 Brugada syndrome 3 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611875 MONDO:0012743 Brugada syndrome 4 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611876 -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611878 -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012744 dilated cardiomyopathy 1Y skos:closeMatch OMIM:611878 cardiomyopathy, dilated, 1y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611879 -MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012745 dilated cardiomyopathy 1Z skos:closeMatch OMIM:611879 cardiomyopathy, dilated, 1z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, congestive, autosomal recessive MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, autosomal recessive +MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch OMIM:611880 cardiomyopathy, dilated, 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012746 dilated cardiomyopathy 2A skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611880 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aldolase deficiency MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase deficiency, red cell -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldolase a deficiency +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldoa deficiency -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym red cell aldolase deficiency -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272066 MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611881 +MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch Orphanet:57 Glycogen storage disease due to aldolase A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012747 glycogen storage disease due to aldolase A deficiency skos:closeMatch OMIM:611881 glycogen storage disease 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch OMIM:611884 ciliary dyskinesia, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012748 primary ciliary dyskinesia 7 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611884 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611890 MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome skos:closeMatch Orphanet:53696 Arthrogryposis-anterior horn cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678471 MONDO:0012751 aortic aneurysm, familial abdominal, 3 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611891 -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 +MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch OMIM:611892 aneurysm, intracranial berry, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012753 amyotrophic lateral sclerosis type 9 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611895 -MONDO:0012754 nanophthalmos 3 skos:closeMatch OMIM:611897 nanophthalmos 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012754 nanophthalmos 3 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611897 +MONDO:0012754 nanophthalmos 3 skos:closeMatch OMIM:611897 nanophthalmos 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611907 MONDO:0012755 episodic ataxia type 7 skos:closeMatch Orphanet:209970 Episodic ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677843 MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261197 Proximal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611913 -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:611913 chromosome 16p11.2 deletion syndrome, 593-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 593-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012756 proximal 16p11.2 microdeletion syndrome skos:closeMatch NCIT:C120408 Chromosome 16p11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611926 MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch OMIM:611926 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis +MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome skos:closeMatch Orphanet:137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611926 MONDO:0012758 prostate cancer, hereditary, 13 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611928 MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 skos:closeMatch Orphanet:488434 Camptodactyly syndrome, Guadalajara type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611929 -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749873 -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611936 -MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 skos:closeMatch OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, locus on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 3q29 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch OMIM:611936 chromosome 3q29 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microduplication type 3q29 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2749873 +MONDO:0012761 chromosome 3q29 microduplication syndrome skos:closeMatch Orphanet:251038 3q29 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611936 MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic -MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:611938 ventricular tachycardia, catecholaminergic polymorphic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611938 -MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 skos:closeMatch OMIM:604772 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, stress-induced polymorphic MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611942 +MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 skos:closeMatch OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611943 MONDO:0012764 RIDDLE syndrome skos:closeMatch Orphanet:420741 RIDDLE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677792 MONDO:0012765 lymphatic malformation 2 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611944 MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936880 MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch Orphanet:171612 Autosomal dominant spastic paraplegia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611945 -MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012766 hereditary spastic paraplegia 37 skos:closeMatch OMIM:611945 spastic paraplegia 37, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 37, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012767 age related macular degeneration 11 skos:closeMatch OMIM:611953 macular degeneration, age-related, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012768 prostate cancer, hereditary, 11 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611955 MONDO:0012769 prostate cancer, hereditary, 14 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611958 MONDO:0012770 prostate cancer, hereditary, 15 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611959 -MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012771 asthma-related traits, susceptibility to, 7 skos:closeMatch OMIM:611960 asthma-related traits, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch Orphanet:199318 15q13.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612001 -MONDO:0012775 thrombocytopenia 4 skos:closeMatch OMIM:612004 thrombocytopenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012774 chromosome 15q13.3 microdeletion syndrome skos:closeMatch OMIM:612001 chromosome 15q13.3 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q13.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:268322 Hereditary thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 MONDO:0012775 thrombocytopenia 4 skos:closeMatch Orphanet:168629 Autosomal thrombocytopenia with normal platelets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612004 +MONDO:0012775 thrombocytopenia 4 skos:closeMatch OMIM:612004 thrombocytopenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, autosomal dominant, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012776 celiac disease, susceptibility to, 7 skos:closeMatch OMIM:612005 celiac disease, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012777 celiac disease, susceptibility to, 8 skos:closeMatch OMIM:612006 celiac disease, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012778 celiac disease, susceptibility to, 9 skos:closeMatch OMIM:612007 celiac disease, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -21702,196 +21708,196 @@ MONDO:0012779 celiac disease, susceptibility to, 10 skos:closeMatch OMIM:612008 MONDO:0012780 celiac disease, susceptibility to, 11 skos:closeMatch OMIM:612009 celiac disease, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012781 celiac disease, susceptibility to, 12 skos:closeMatch OMIM:612010 celiac disease, susceptibility to, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012782 celiac disease, susceptibility to, 13 skos:closeMatch OMIM:612011 celiac disease, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gluten-sensitive enteropathy, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg in MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612015 MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch Orphanet:244310 RFT1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677590 -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement -MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 +MONDO:0012783 RFT1-congenital disorder of glycosylation skos:closeMatch OMIM:612015 congenital disorder of glycosylation, iia in semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg in MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677589 MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch OMIM:612016 coenzyme Q10 deficiency, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612018 +MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612016 MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea and glucosuria, formerly MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch OMIM:612018 cataract 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, juvenile, with microcornea and glucosuria, formerly +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome skos:closeMatch Orphanet:247794 Juvenile cataract-microcornea-renal glucosuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612018 +MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677586 MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch Orphanet:139480 Autosomal recessive spastic paraplegia type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612020 -MONDO:0012787 hereditary spastic paraplegia 39 skos:closeMatch OMIM:612020 spastic paraplegia 39, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 39, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677567 MONDO:0012789 dystonia 16 skos:closeMatch Orphanet:210571 Dystonia 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612067 -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, tardbp-related MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ftld-tdp, tardbp-related -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 -MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612069 +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal lobar degeneration with tdp43 inclusions, tardbp-related +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:exactMatch NCIT:C168752 Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 10, with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 10 with or without frontotemporal dementia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012790 amyotrophic lateral sclerosis type 10 skos:closeMatch OMIM:612069 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontotemporal dementia with tdp43 inclusions, tardbp-related +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, sucla2-related MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch OMIM:612073 mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 5 (encephalomyopathic with or without methylmalonic aciduria) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 +MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria skos:closeMatch Orphanet:1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612073 MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 8b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, rrm2b-related +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 -MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch OMIM:612075 mitochondrial DNA depletion syndrome 8a (encephalomyopathic iia with renal tubulopathy) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 8b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 +MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612076 -MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uric acid concentration, serum, quantitative trait locus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677535 -MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 -MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes +MONDO:0012793 hypouricemia, renal, 2 skos:closeMatch OMIM:612076 hypouricemia, renal, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gout susceptibility type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia, neurologic defects, and endocrinopathy syndrome MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia, neurologic defects, and endocrinopathy syndrome +MONDO:0012794 ANE syndrome skos:closeMatch OMIM:612079 alopecia, neurologic defects, and endocrinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anes +MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677535 +MONDO:0012794 ANE syndrome skos:closeMatch Orphanet:157954 ANE syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612079 MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch OMIM:612095 retinitis pigmentosa 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal degeneration, autosomal recessive, prominin-related MONDO:0012796 retinitis pigmentosa 41 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612095 -MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012799 hypertrophic cardiomyopathy 11 skos:closeMatch OMIM:612098 cardiomyopathy, familial hypertrophic, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch OMIM:612099 trichoepithelioma, multiple familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mft2 MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 MONDO:0012800 trichoepithelioma, multiple familial, 2 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612099 +MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauricular syndrome, schorderet type +MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612109 MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear MONDO:0012802 oculoauricular syndrome skos:closeMatch OMIM:612109 oculoauricular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schorderet-munier-franceschetti syndrome -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612109 -MONDO:0012802 oculoauricular syndrome skos:closeMatch Orphanet:157962 Oculoauricular syndrome, Schorderet type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoauricular syndrome, schorderet type +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612119 +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency +MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalase deficiency MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalose intolerance MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268187 -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trehalase deficiency -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch OMIM:612119 trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trehalase deficiency -MONDO:0012803 diarrhea-vomiting due to trehalase deficiency skos:closeMatch Orphanet:103909 Trehalase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612119 MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842534 -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612126 -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal exertion-induced dyskinesia +MONDO:0012804 hypertrophic cardiomyopathy 12 skos:closeMatch OMIM:612124 cardiomyopathy, familial hypertrophic, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ped with or without epilepsy and/or hemolytic anemia MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glut1 deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch OMIM:612126 glut1 deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ped with or without epilepsy and/or hemolytic anemia +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal exertion-induced dyskinesia +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612126 +MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 skos:closeMatch Orphanet:98811 Paroxysmal exertion-induced dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842534 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612132 -MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677349 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612138 +MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677349 MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia skos:closeMatch Orphanet:158684 Epidermolysis bullosa simplex with pyloric atresia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebs with pyloric atresia -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612158 MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 23, with or without ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612158 +MONDO:0012808 dilated cardiomyopathy 1AA skos:closeMatch OMIM:612158 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1aa, with or without left ventricular noncompaction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch OMIM:612161 aneurysm, intracranial berry, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch OMIM:612162 aneurysm, intracranial berry, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 +MONDO:0012812 developmental and epileptic encephalopathy, 4 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612164 MONDO:0012813 retinitis pigmentosa 29 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612165 MONDO:0012815 Coats plus syndrome skos:exactMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coats plus syndrome MONDO:0012816 atrial fibrillation, familial, 6 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612201 MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 -MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015560 -MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor -MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553580 MONDO:0012817 Ewing sarcoma skos:closeMatch OMIM:612219 ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroepithelioma, peripheral +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C27903 Localized Peripheral Primitive Neuroectodermal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized peripheral primitive neuroectodermal tumor MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370334 Extraskeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch NCIT:C7806 Localized Ewing Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label localized ewing sarcoma +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684337 MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:370348 Peripheral primitive neuroectodermal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612219 +MONDO:0012817 Ewing sarcoma skos:closeMatch Orphanet:319 Skeletal Ewing sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553580 MONDO:0012818 maturity-onset diabetes of the young type 9 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612225 MONDO:0012819 diabetic ketoacidosis skos:exactMatch NCIT:C50530 Diabetic Ketoacidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diabetic ketoacidosis MONDO:0012820 colorectal cancer, susceptibility to, 3 skos:closeMatch OMIM:612229 colorectal cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012821 colorectal cancer, susceptibility to, 5 skos:closeMatch OMIM:612230 colorectal cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012822 colorectal cancer, susceptibility to, 6 skos:closeMatch OMIM:612231 colorectal cancer, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 8q23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012823 colorectal cancer, susceptibility to, 7 skos:closeMatch OMIM:612232 colorectal cancer, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitchap60 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy -MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitchap60 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch OMIM:612233 leukodystrophy, hypomyelinating, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial hsp60 chaperonopathy MONDO:0012824 hypomyelinating leukodystrophy 4 skos:closeMatch Orphanet:280270 Pelizaeus-Merzbacher-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612233 +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrosarcoma, extraskeletal myxoid MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275278 -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chondrosarcoma, extraskeletal myxoid -MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch OMIM:612237 chondrosarcoma, extraskeletal myxoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrosarcoma, extraskeletal myxoid +MONDO:0012825 extraskeletal myxoid chondrosarcoma skos:closeMatch Orphanet:209916 Extraskeletal myxoid chondrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612237 MONDO:0012828 atrial fibrillation, familial, 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612240 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of infancy +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 10q22.3q23.3 microdeletion syndrome MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis, infantile +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile polyposis of infancy +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 10q22.3-q23.2 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis of infancy -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 +MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:79076 Juvenile polyposis of infancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile polyposis of infancy MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612242 -MONDO:0012830 chromosome 10q23 deletion syndrome skos:closeMatch Orphanet:276413 10q22.3q23.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 10q22.3q23.3 microdeletion syndrome -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crouzon syndrome with acanthosis nigricans +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym can MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch Orphanet:93262 Crouzon syndrome-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612247 -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crouzon syndrome with acanthosis nigricans +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crouzon syndrome with acanthosis nigricans MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch NCIT:C43180 Can semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label can -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym can +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome skos:closeMatch OMIM:612247 crouzon syndrome with acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crouzon syndrome with acanthosis nigricans MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612260 MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency skos:closeMatch Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2677092 MONDO:0012843 epilepsy, childhood absence, susceptibility to, 5 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612269 -MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 8, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch OMIM:612274 ciliary dyskinesia, primary, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 8, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012844 primary ciliary dyskinesia 8 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612274 MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612279 -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 -MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive, nipal4-related MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive, nipal4-related +MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch OMIM:612281 ichthyosis, congenital, autosomal recessive 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012847 autosomal recessive congenital ichthyosis 6 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612281 MONDO:0012848 Meckel syndrome, type 6 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612284 MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012849 Joubert syndrome 9 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 +MONDO:0012849 Joubert syndrome 9 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612285 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612286 MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612286 +MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612287 MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 skos:closeMatch OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis/osteoporosis, hypophosphatemic, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345382 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 -MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612289 +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2963 Progeroid syndrome, Petty type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931653 +MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345382 MONDO:0012853 Fontaine progeroid syndrome skos:closeMatch Orphanet:2095 Gorlin-Chaudhry-Moss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537290 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with or without hearing impairment +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, hearing impairment, and cleft palate +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676772 MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microtia, hearing impairment, and cleft palate +MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia with or without hearing impairment MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612290 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch Orphanet:140963 Bilateral microtia-deafness-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676772 -MONDO:0012854 bilateral microtia-deafness-cleft palate syndrome skos:closeMatch OMIM:612290 microtia, hearing impairment, and cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microtia, hearing impairment, and cleft palate MONDO:0012855 Joubert syndrome 8 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612291 MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612292 MONDO:0012856 Birk-Barel syndrome skos:closeMatch Orphanet:166108 Intellectual disability, Birk-Barel type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability, birk-barel type MONDO:0012856 Birk-Barel syndrome skos:closeMatch OMIM:612292 birk-barel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with hypotonia and facial dysmorphism MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612293 MONDO:0012857 porokeratosis 5, disseminated superficial actinic type skos:closeMatch OMIM:612293 porokeratosis 5, disseminated superficial actinic iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612300 -MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd59 deficiency MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy +MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd59 deficiency MONDO:0012858 primary CD59 deficiency skos:closeMatch OMIM:612300 hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612301 -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676766 -MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor, with hypogammaglobulinemia +MONDO:0012858 primary CD59 deficiency skos:closeMatch Orphanet:169464 Primary CD59 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612300 MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch OMIM:612301 osteopetrosis, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, osteoclast-poor, with hypogammaglobulinemia +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676766 +MONDO:0012859 autosomal recessive osteopetrosis 7 skos:closeMatch Orphanet:178389 Osteopetrosis-hypogammaglobulinemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612301 MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein c deficiency, autosomal recessive MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein c deficiency, autosomal recessive MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proc deficiency, autosomal recessive @@ -21901,22 +21907,22 @@ MONDO:0012861 premature ovarian failure 6 skos:closeMatch OMIM:612310 premature MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:closeMatch OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym motor timing quantitative trait locus MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:closeMatch OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digit span quantitative trait locus MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C45301 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch OMIM:612313 glass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glass -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch NCIT:C66821 Glass semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glass -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 -MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576278 SATB2-associated syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label satb2-associated syndrome -MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili incarnati +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch OMIM:612313 glass syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glass +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612313 +MONDO:0012864 chromosome 2q32-q33 deletion syndrome skos:closeMatch Orphanet:251019 2q32q33 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676739 MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ingrown hairs +MONDO:0012865 Pseudofolliculitis barbae skos:closeMatch OMIM:612318 pseudofolliculitis barbae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili incarnati +MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:171629 Autosomal recessive spastic paraplegia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch Orphanet:329308 Fatty acid hydroxylase-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612319 -MONDO:0012866 hereditary spastic paraplegia 35 skos:closeMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 38, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch OMIM:612335 spastic paraplegia 38, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 38, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612335 MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676732 +MONDO:0012867 hereditary spastic paraplegia 38 skos:closeMatch Orphanet:171617 Autosomal dominant spastic paraplegia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612335 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612336 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068370 MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant skos:closeMatch Orphanet:26349 Protein S acquired deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label protein s acquired deficiency @@ -21924,146 +21930,146 @@ MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch Orp MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q43-q44 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012869 intellectual disability, autosomal dominant 22 skos:closeMatch OMIM:612337 intellectual developmental disorder, autosomal dominant 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1qter deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 +MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612347 MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:closeMatch OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis, familial, due to increased release of tissue plasminogen activator -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocheirodysplasia, ehlers-danlos syndrome-like -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676510 MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scd-eds -MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch Orphanet:157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, disseminated superficial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylocheirodysplasia, ehlers-danlos syndrome-like +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch OMIM:612350 ehlers-danlos syndrome, spondylodysplastic type, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, spondylodysplastic type, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612353 +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis type 6, disseminated superficial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012874 porokeratosis 6, disseminated superficial actinic type skos:closeMatch OMIM:612353 porokeratosis 6, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porokeratosis, disseminated superficial actinic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf2 deficiency MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to heparin cofactor type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012876 heparin cofactor 2 deficiency skos:closeMatch OMIM:612356 heparin cofactor 2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hcf2 deficiency -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012877 major affective disorder 8 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 2q32-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sczd14 -MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 +MONDO:0012879 schizophrenia 14 skos:closeMatch OMIM:612361 schizophrenia 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 2q32-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 +MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612370 MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012881 major affective disorder 7 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612357 major affective disorder 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder -MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612372 major affective disorder 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label major affective disorder type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611536 major affective disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:612371 major affective disorder 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611535 major affective disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:309200 major affective disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:125480 major affective disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012882 major affective disorder 9 skos:closeMatch OMIM:611247 major affective disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bipolar affective disorder +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612376 +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001019 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612376 -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 MONDO:0012883 acute promyelocytic leukemia skos:closeMatch OMIM:612376 acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute promyelocytic -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015473 -MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 +MONDO:0012883 acute promyelocytic leukemia skos:closeMatch Orphanet:520 Acute promyelocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023487 MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3150191 +MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch Orphanet:324737 SRD5A3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612379 MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities MONDO:0012885 SRD5A3-congenital disorder of glycosylation skos:closeMatch OMIM:612379 congenital disorder of glycosylation, iia iq semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iq MONDO:0012888 sarcoidosis, susceptibility to, 2 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612387 MONDO:0012889 sarcoidosis, susceptibility to, 3 skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612388 MONDO:0012890 pontocerebellar hypoplasia type 2B skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612389 MONDO:0012891 pontocerebellar hypoplasia type 2C skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612390 +MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676285 MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysyl hydroxylase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612394 MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch OMIM:612394 bone fragility with contractures, arterial rupture, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lh3 deficiency -MONDO:0012892 bone fragility with contractures, arterial rupture, and deafness skos:closeMatch Orphanet:300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676285 MONDO:0012893 osteoarthritis susceptibility 5 skos:closeMatch OMIM:612400 osteoarthritis susceptibility 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of hip MONDO:0012894 osteoarthritis susceptibility 6 skos:closeMatch OMIM:612401 osteoarthritis susceptibility 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoarthritis of knee MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt17 type MONDO:0012895 torsion dystonia 17 skos:closeMatch Orphanet:370103 Primary dystonia, DYT17 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612406 -MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012895 torsion dystonia 17 skos:closeMatch OMIM:612406 dystonia 17, torsion, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 17, torsion, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612416 MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012897 congenital factor XI deficiency skos:closeMatch NCIT:C131739 Factor XI Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xi deficiency -MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym f11 deficiency -MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612416 +MONDO:0012897 congenital factor XI deficiency skos:closeMatch OMIM:612416 factor 11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor type 11 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012897 congenital factor XI deficiency skos:closeMatch Orphanet:329 Congenital factor XI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015523 +MONDO:0012897 congenital factor XI deficiency skos:closeMatch NCIT:C131739 Factor XI Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xi deficiency MONDO:0012898 narcolepsy 4, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612417 MONDO:0012900 cardiomyopathy, familial restrictive, 3 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612422 -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prekallikrein deficiency -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fletcher factor deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkk deficiency +MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fletcher factor deficiency MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch NCIT:C99022 Prekallikrein Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prekallikrein deficiency -MONDO:0012901 inherited prekallikrein deficiency skos:closeMatch Orphanet:749 Congenital prekallikrein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612423 -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612431 +MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 skos:closeMatch OMIM:612431 deafness, autosomal dominant 27 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch OMIM:612433 deafness, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612433 MONDO:0012904 epilepsy, progressive myoclonic, 1B skos:closeMatch Orphanet:308 Progressive myoclonic epilepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612437 -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612438 +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012905 hypomyelinating leukodystrophy 6 skos:closeMatch OMIM:612438 leukodystrophy, hypomyelinating, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612444 MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012906 primary ciliary dyskinesia 9 skos:closeMatch OMIM:612444 ciliary dyskinesia, primary, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scoliosis, arachnodactyly, and blindness MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch OMIM:612445 scoliosis, arachnodactyly, and blindness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scoliosis, arachnodactyly, and blindness MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2676234 MONDO:0012907 blindness - scoliosis - arachnodactyly syndrome skos:closeMatch Orphanet:171844 Blindness-scoliosis-arachnodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612445 -MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency, subtotal +MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 6 deficiency, subtotal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency +MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c6 deficiency, subtotal MONDO:0012908 complement component 6 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612446 -MONDO:0012908 complement component 6 deficiency skos:closeMatch OMIM:612446 complement component 6 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 6 deficiency, subtotal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012910 age-related hearing impairment 1 skos:closeMatch OMIM:612448 age-related hearing impairment 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbycusis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548076 -MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612462 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932716 +MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch Orphanet:79444 Pseudohypoparathyroidism type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612462 MONDO:0012911 pseudohypoparathyroidism type 1C skos:closeMatch OMIM:612462 pseudohypoparathyroidism, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym php type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albright hereditary osteodystrophy with multiple hormone resistance +MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612463 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011556 -MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612463 MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch Orphanet:79445 Pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033835 +MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch NCIT:C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label albright hereditary osteodystrophy with multiple hormone resistance +MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym albright hereditary osteodystrophy with multiple hormone resistance MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch OMIM:612463 pseudopseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym albright hereditary osteodystrophy without multiple hormone resistance MONDO:0012912 pseudopseudohypoparathyroidism skos:closeMatch NCIT:C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label albright hereditary osteodystrophy without multiple hormone resistance -MONDO:0012912 pseudopseudohypoparathyroidism skos:exactMatch OMIM:103580 pseudohypoparathyroidism, iia 1a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym albright hereditary osteodystrophy with multiple hormone resistance -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13-p12 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wagro syndrome +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr syndrome with obesity +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p13-p12 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro syndrome -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch Orphanet:893 WAGR syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612469 -MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagr syndrome with obesity -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome skos:closeMatch OMIM:612469 wagro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wagro MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch Orphanet:250989 1q21.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612474 +MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012914 chromosome 1q21.1 deletion syndrome skos:closeMatch OMIM:612474 chromosome 1q21.1 deletion syndrome, 1.35-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1q21.1 deletion syndrome, type 1.35-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612475 MONDO:0012915 chromosome 1q21.1 duplication syndrome skos:closeMatch Orphanet:250994 1q21.1 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675891 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675875 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome skos:closeMatch Orphanet:261349 2p15p16.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612513 -MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 10, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch OMIM:612518 ciliary dyskinesia, primary, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012918 primary ciliary dyskinesia 10 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612518 MONDO:0012919 type 1 diabetes mellitus 20 skos:closeMatch OMIM:612520 iia 1 diabetes mellitus 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012920 type 1 diabetes mellitus 21 skos:closeMatch OMIM:612521 iia 1 diabetes mellitus 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -22071,40 +22077,40 @@ MONDO:0012921 type 1 diabetes mellitus 22 skos:closeMatch OMIM:612522 iia 1 diab MONDO:0012923 congenital generalized lipodystrophy type 3 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612526 MONDO:0012924 Diamond-Blackfan anemia 4 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612527 MONDO:0012925 Diamond-Blackfan anemia 5 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612528 -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 -MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia2 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, pigmented hypomaturation type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia2 +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch OMIM:612529 amelogenesis imperfecta, hypomaturation type, iia2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia2 +MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 MONDO:0012926 amelogenesis imperfecta hypomaturation type 2A2 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612529 -MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:250999 1q41q42 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch OMIM:612530 chromosome 1q41-q42 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612539 -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675528 -MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012927 chromosome 1q41-q42 deletion syndrome skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612530 MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch OMIM:612539 spastic paraplegia 42, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 42, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675528 +MONDO:0012928 hereditary spastic paraplegia 42 skos:closeMatch Orphanet:171863 Autosomal dominant spastic paraplegia type 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612539 MONDO:0012929 Compton-North congenital myopathy skos:closeMatch OMIM:612540 congenital myopathy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, compton-north -MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lethal myopathy, compton-north type +MONDO:0012929 Compton-North congenital myopathy skos:closeMatch Orphanet:210163 Congenital lethal myopathy, Compton-North type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612540 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension, leukopenia, and atrial septal defect +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch OMIM:612541 neutropenia, severe congenital, 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675526 MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612551 -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612555 +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 skos:closeMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls3 MONDO:0012934 leukemia, chronic lymphocytic, susceptibility to, 3 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612557 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612558 MONDO:0012935 leukemia, chronic lymphocytic, susceptibility to, 4 skos:closeMatch OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls4 -MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls5 MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch Orphanet:67038 B-cell chronic lymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612559 -MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012936 leukemia, chronic lymphocytic, susceptibility to, 5 skos:closeMatch OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clls5 MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch OMIM:612561 diamond-blackfan anemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aase-smith syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012937 Diamond-Blackfan anemia 6 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612561 MONDO:0012938 Diamond-Blackfan anemia 7 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612562 MONDO:0012939 Diamond-Blackfan anemia 8 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612563 @@ -22112,455 +22118,455 @@ MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflamma MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder type 25, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612567 -MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012941 inflammatory bowel disease 25 skos:closeMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012942 lung cancer susceptibility 3 skos:closeMatch OMIM:612571 lung cancer susceptibility 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of lung, susceptibility to MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612572 MONDO:0012943 retinitis pigmentosa 46 skos:closeMatch OMIM:612572 retinitis pigmentosa 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, autosomal recessive, idh3b-related -MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612576 MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement +MONDO:0012944 chromosome 17P13.3, telomeric, duplication syndrome skos:closeMatch Orphanet:3329 Tibial aplasia-ectrodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612576 MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement +MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612577 MONDO:0012945 amyotrophic lateral sclerosis type 11 skos:exactMatch NCIT:C168753 Amyotrophic Lateral Sclerosis 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612580 MONDO:0012946 intellectual disability, autosomal dominant 3 skos:closeMatch OMIM:612580 intellectual developmental disorder, autosomal dominant 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612581 -MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675486 +MONDO:0012947 intellectual disability, autosomal dominant 4 skos:closeMatch OMIM:612581 intellectual developmental disorder, autosomal dominant 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612582 -MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 +MONDO:0012948 chromosome 6pter-p24 deletion syndrome skos:closeMatch Orphanet:96125 Distal monosomy 6p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675486 MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch OMIM:612586 aneurysm, intracranial berry, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 -MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch OMIM:612587 aneurysm, intracranial berry, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 MONDO:0012951 colorectal cancer, susceptibility to, 8 skos:closeMatch OMIM:612589 colorectal cancer, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 14q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012952 colorectal cancer, susceptibility to, 9 skos:closeMatch OMIM:612590 colorectal cancer, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 16q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 -MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch OMIM:612591 colorectal cancer, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 19q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012953 colorectal cancer, susceptibility to, 10 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612591 MONDO:0012954 colorectal cancer, susceptibility to, 11 skos:closeMatch OMIM:612592 colorectal cancer, susceptibility to, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 20p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612621 +MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch OMIM:612621 intellectual developmental disorder, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:closeMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012960 intellectual disability, autosomal dominant 5 skos:exactMatch NCIT:C178414 Mental Retardation, Autosomal Dominant 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 5 semapv:RegularExpressionReplacement MONDO:0012961 type 1 diabetes mellitus 23 skos:closeMatch OMIM:612622 iia 1 diabetes mellitus 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym end-stage renal disorder, diabetic, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675463 +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612626 -MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 +MONDO:0012964 chromosome 15q26-qter deletion syndrome skos:closeMatch Orphanet:1596 Distal monosomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675463 MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenylate kinase deficiency, hemolytic anemia due to +MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenylate kinase deficiency, hemolytic anemia due to MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612631 MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch Orphanet:86817 Hemolytic anemia due to adenylate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675459 -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenylate kinase deficiency, hemolytic anemia due to -MONDO:0012967 hemolytic anemia due to adenylate kinase deficiency skos:closeMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenylate kinase deficiency, hemolytic anemia due to -MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 +MONDO:0012968 Usher syndrome type 1H skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612632 MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 skos:closeMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinopathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:603933 microvascular complications of diabetes, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonproliferative retinopathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proliferative retinopathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 skos:closeMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephropathy, diabetic, susceptibility to MONDO:0012972 febrile seizures, familial, 10 skos:closeMatch OMIM:612637 febrile seizures, familial, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612642 -MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement +MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch OMIM:612642 deafness, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612642 +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612643 -MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612644 +MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B skos:closeMatch OMIM:612643 deafness, autosomal dominant 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 3b semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch OMIM:612644 deafness, autosomal dominant 2b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 2b semapv:RegularExpressionReplacement +MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612644 MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612645 +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612645 +MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B skos:closeMatch OMIM:612645 deafness, autosomal recessive 1b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 1b semapv:RegularExpressionReplacement MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch OMIM:612649 ciliary dyskinesia, primary, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 11, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012978 primary ciliary dyskinesia 11 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612649 +MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch OMIM:612650 ciliary dyskinesia, primary, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 12, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012979 primary ciliary dyskinesia 12 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612650 -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endocrine-cerebroosteodysplasia -MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine-cerebroosteodysplasia MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch Orphanet:199332 Endocrine-cerebro-osteodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612651 -MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612653 +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocrine-cerebroosteodysplasia +MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome skos:closeMatch OMIM:612651 endocrine-cerebroosteodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endocrine-cerebroosteodysplasia MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch OMIM:612653 spherocytosis, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675211 +MONDO:0012981 hereditary spherocytosis type 4 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612653 MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612656 +MONDO:0012982 episodic ataxia type 6 skos:closeMatch Orphanet:209967 Episodic ataxia type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675211 MONDO:0012983 cone-rod dystrophy 12 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612657 -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675204 -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612674 -MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract -MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch OMIM:612690 spherocytosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012984 PHARC syndrome skos:closeMatch OMIM:612674 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612674 +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +MONDO:0012984 PHARC syndrome skos:closeMatch Orphanet:171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675204 MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612690 -MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 +MONDO:0012985 hereditary spherocytosis type 5 skos:closeMatch OMIM:612690 spherocytosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spherocytosis, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria, bilateral temporooccipital MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch OMIM:612691 polymicrogyria, bilateral temporooccipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria, bilateral temporooccipital +MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:208441 Bilateral parasagittal parieto-occipital polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612691 MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 -MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch OMIM:612692 agammaglobulinemia 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79b defect +MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 MONDO:0012988 hypogonadotropic hypogonadism 6 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612702 MONDO:0012989 microcephaly 7, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612703 -MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 +MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0012990 Leber congenital amaurosis 13 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612712 MONDO:0012991 Kahrizi syndrome skos:closeMatch OMIM:612713 kahrizi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, cataract, coloboma, and kyphosis, autosomal recessive +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612714 +MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675184 -MONDO:0012992 pancreatic insufficiency-anemia-hyperostosis syndrome skos:closeMatch Orphanet:199337 Pancreatic insufficiency-anemia-hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612714 MONDO:0012993 dyschromatosis universalis hereditaria 2 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612715 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia, dopa-responsive, due to sepiapterin reductase deficiency +MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, due to sepiapterin reductase deficiency MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268468 MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch Orphanet:70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612716 -MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency skos:closeMatch OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, dopa-responsive, due to sepiapterin reductase deficiency -MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612718 MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2675179 +MONDO:0012996 AGAT deficiency skos:closeMatch Orphanet:35704 L-Arginine:glycine amidinotransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612718 MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795969 MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome -MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hardikar syndrome MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301068 -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch OMIM:301068 hardikar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hardikar syndrome +MONDO:0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome skos:closeMatch Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hardikar syndrome MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612736 +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0574080 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch Orphanet:382 Guanidinoacetate methyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537622 -MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome due to gamt deficiency MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:exactMatch NCIT:C173468 Cerebral Creatine Deficiency Syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebral creatine deficiency syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0012999 guanidinoacetate methyltransferase deficiency skos:closeMatch OMIM:612736 cerebral creatine deficiency syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym creatine deficiency syndrome due to gamt deficiency +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute hepatic +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612740 +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute hepatic MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphobilinogen synthase deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alad deficiency MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delta-aminolevulinate dehydratase deficiency -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, acute hepatic -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label porphyria, acute hepatic MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym porphyria, alad -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doss porphyria -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria -MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch Orphanet:100924 Porphyria due to ALA dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612740 MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lead poisoning, susceptibility to +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alad deficiency +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:exactMatch Orphanet:95157 Acute hepatic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute hepatic porphyria +MONDO:0013000 porphyria due to ALA dehydratase deficiency skos:closeMatch OMIM:612740 porphyria, acute hepatic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym doss porphyria MONDO:0013002 cone-rod dystrophy 9 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612775 MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia with situs inversus -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia, isolated -MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612776 MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoglossia with situs inversus +MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch Orphanet:141152 Isolated congenital hypoglossia/aglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612776 +MONDO:0013003 isolated congenital hypoglossia/aglossia skos:closeMatch OMIM:612776 hypoglossia with situs inversus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoglossia, isolated MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612780 MONDO:0013005 EAST syndrome skos:closeMatch Orphanet:199343 EAST syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748572 MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, ataxia, sensorineural deafness, and tubulopathy MONDO:0013005 EAST syndrome skos:closeMatch OMIM:612780 seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sesames -MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dwarfism of sindh -MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:631 Non-acquired isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612781 +MONDO:0013006 isolated growth hormone deficiency type IB skos:exactMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dwarfism of sindh MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch OMIM:612781 isolated growth hormone deficiency, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ighd type 1b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013006 isolated growth hormone deficiency type IB skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748571 +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch OMIM:612782 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 +MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch OMIM:612783 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:169090 Combined immunodeficiency due to CRAC channel dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch OMIM:612789 deafness, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612789 MONDO:0013011 atrial septal defect 5 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612794 -MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auricular cleft, congenital +MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cosman deformity of the auricle MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label question mark ears, isolated MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym question mark ears, isolated -MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cosman deformity of the auricle +MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auricular cleft, congenital MONDO:0013013 question mark ears, isolated skos:closeMatch OMIM:612798 question mark ears, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ears, prominent and constricted MONDO:0013013 question mark ears, isolated skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612798 -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612813 MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748544 +MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type skos:closeMatch Orphanet:171866 Spondyloepimetaphyseal dysplasia, aggrecan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612813 +MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 +MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:612838 brugada syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0013015 Brugada syndrome 5 skos:closeMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction defect, nonspecific -MONDO:0013015 Brugada syndrome 5 skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612838 -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748536 MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement -MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch OMIM:612840 leukocyte adhesion deficiency, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym integrin activation deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:2968 Leukocyte adhesion deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612840 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch Orphanet:99844 Leukocyte adhesion deficiency type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748536 +MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 semapv:RegularExpressionReplacement +MONDO:0013016 leukocyte adhesion deficiency 3 skos:closeMatch OMIM:612840 leukocyte adhesion deficiency, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym integrin activation deficiency disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013016 leukocyte adhesion deficiency 3 skos:exactMatch NCIT:C154615 Leukocyte Adhesion Deficiency Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 3 MONDO:0013017 hypotrichosis 5 skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612841 -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, autosomal dominant -MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, autosomal dominant MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612843 +MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis follicularis spinulosa decalvans, autosomal dominant +MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch OMIM:612843 keratosis follicularis spinulosa decalvans, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis follicularis spinulosa decalvans, autosomal dominant MONDO:0013020 narcolepsy 5, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612851 MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomyelitis, sterile multifocal, with periostitis and pustulosis MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748507 -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, sterile multifocal, with periostitis and pustulosis -MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 1 receptor antagonist deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612852 +MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis skos:closeMatch OMIM:612852 osteomyelitis, sterile multifocal, with periostitis and pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteomyelitis, sterile multifocal, with periostitis and pustulosis MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 -MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:141291 Cleft lip and alveolus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068739 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363973 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 -MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to +MONDO:0013023 orofacial cleft 12 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612858 MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cteph, dvt-negative, susceptibility to -MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612863 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068739 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612862 +MONDO:0013024 chronic thromboembolic pulmonary hypertension skos:closeMatch Orphanet:70591 Chronic thromboembolic pulmonary hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363973 MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch NCIT:C36470 del(6q25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(6q25) -MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612867 +MONDO:0013025 chromosome 6q24-q25 deletion syndrome skos:closeMatch Orphanet:251056 6q25 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612863 MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748503 +MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch Orphanet:98959 Subepithelial mucinous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612867 MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, subepithelial mucinous MONDO:0013026 subepithelial mucinous corneal dystrophy skos:closeMatch OMIM:612867 corneal dystrophy, subepithelial mucinous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, subepithelial mucinous -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q21.33 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior amorphous MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior amorphous -MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748502 +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior amorphous +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch OMIM:612868 corneal dystrophy, posterior amorphous semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 12q21.33 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612868 +MONDO:0013027 posterior amorphous corneal dystrophy skos:closeMatch Orphanet:98971 Posterior amorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748502 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 MONDO:0013028 adenosine monophosphate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538234 -MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement +MONDO:0013029 cerebellar ataxia type 9 skos:closeMatch OMIM:612876 spinocerebellar ataxia 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612877 -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 +MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013030 dilated cardiomyopathy 1BB skos:closeMatch OMIM:612877 cardiomyopathy, dilated, 1bb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1bb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 -MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, associated with chromosome type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612881 MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym periventricular nodular heterotopia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal skos:closeMatch OMIM:612881 chromosome 5q14.3 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heterotopia, periventricular, associated with chromosome type 5q deletion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612900 -MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, palmoplantar, striate form type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch OMIM:612908 keratosis palmoplantaris striata 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striate palmoplantar keratoderma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013034 keratosis palmoplantaris striata 2 skos:closeMatch Orphanet:50942 Striate palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612908 MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabrielli syndrome -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612913 +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch Orphanet:141000 Orofaciodigital syndrome type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612913 MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome with skeletal anomalies +MONDO:0013035 orofaciodigital syndrome XI skos:closeMatch OMIM:612913 orofaciodigital syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752047 MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch Orphanet:217017 Zechi-Ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612916 MONDO:0013036 Zechi-Ceide syndrome skos:closeMatch OMIM:612916 zechi-ceide syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym occipital atretic cephalocele, unusual facies, and large feet MONDO:0013037 Giacheti syndrome skos:closeMatch OMIM:612917 giacheti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid habitus and specific language and learning disabilities -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clove syndrome +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipomatous overgrowth, vascular malformations, and epidermal nevi MONDO:0013038 CLOVES syndrome skos:closeMatch Orphanet:140944 CLOVES syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612918 -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clove syndrome MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, and epidermal nevi -MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipomatous overgrowth, vascular malformations, and epidermal nevi +MONDO:0013038 CLOVES syndrome skos:closeMatch OMIM:612918 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities MONDO:0013039 3M syndrome 2 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612921 +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus2 MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch OMIM:612922 hemolytic uremic syndrome, atypical, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus2 MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 -MONDO:0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612922 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus3 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus3 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch OMIM:612923 hemolytic uremic syndrome, atypical, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013041 atypical hemolytic-uremic syndrome with I factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612923 +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus4 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612924 -MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013042 atypical hemolytic-uremic syndrome with B factor anomaly skos:closeMatch OMIM:612924 hemolytic uremic syndrome, atypical, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch OMIM:612925 hemolytic uremic syndrome, atypical, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 +MONDO:0013043 atypical hemolytic-uremic syndrome with C3 anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612925 +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 +MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic uremic syndrome, atypical, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch OMIM:612926 hemolytic uremic syndrome, atypical, susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612926 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612932 MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752027 -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase-beta deficiency -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch Orphanet:99849 Glycogen storage disease due to muscle beta-enolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612932 +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency skos:closeMatch OMIM:612932 glycogen storage disease 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enolase type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd11 -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:612933 glycogen storage disease 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 11 semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch OMIM:227810 fanconi-bickel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612933 +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612936 MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:612936 spastic paraplegia 50, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 50, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013048 hereditary spastic paraplegia 50 skos:closeMatch OMIM:617008 cerebral palsy, spastic quadriplegic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral palsy, spastic quadriplegic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612937 MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752007 -MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg io +MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch Orphanet:263494 DPM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612937 MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg1(dpm3) -MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612938 +MONDO:0013049 DPM3-congenital disorder of glycosylation skos:closeMatch OMIM:612937 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg io MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth retardation, developmental delay, and facial dysmorphism MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch OMIM:612938 growth retardation, developmental delay, and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth retardation, developmental delay, and facial dysmorphism +MONDO:0013050 lethal polymalformative syndrome, Boissel type skos:closeMatch Orphanet:210144 Lethal polymalformative syndrome, Boissel type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612938 +MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with progeroid features MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751987 MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch Orphanet:357064 Autosomal recessive cutis laxa type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612940 -MONDO:0013051 autosomal recessive cutis laxa type 2B skos:closeMatch OMIM:612940 cutis laxa, autosomal recessive, iia 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with progeroid features MONDO:0013052 retinitis pigmentosa 42 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612943 -MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751878 MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612946 +MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type skos:closeMatch Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751878 +MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination, global cerebral MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch OMIM:612949 developmental and epileptic encephalopathy 39 with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartate-glutamate carrier type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013056 developmental and epileptic encephalopathy, 39 skos:closeMatch Orphanet:353217 Epileptic encephalopathy with global cerebral demyelination semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612949 -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, cystic, without megalencephaly -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, cystic, without megalencephaly MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751843 -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567845 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch Orphanet:85136 Cystic leukoencephalopathy without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, cystic, without megalencephaly +MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch OMIM:612951 leukoencephalopathy, cystic, without megalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, cystic, without megalencephaly MONDO:0013059 Aicardi-Goutieres syndrome 5 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612952 MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751842 -MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia-parkinsonism, adult-onset +MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch OMIM:612953 parkinson disease 14, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 14, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013060 autosomal recessive Parkinson disease 14 skos:closeMatch Orphanet:199351 Adult-onset dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612953 -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612954 MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, selcen type +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch Orphanet:199340 Muscular dystrophy, Selcen type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612954 +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013061 myofibrillar myopathy 6 skos:closeMatch OMIM:612954 myopathy, myofibrillar, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 MONDO:0013062 long QT syndrome 12 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612955 MONDO:0013063 ventricular fibrillation, paroxysmal familial, 2 skos:closeMatch Orphanet:228140 Idiopathic ventricular fibrillation, non Brugada type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612956 MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 -MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof7 MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal insufficiency, nr5a1-related -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure +MONDO:0013065 premature ovarian failure 7 skos:closeMatch OMIM:612964 premature ovarian failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof7 MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, nr5a1-related -MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, with or without adrenal failure MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, nr5a1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013066 46,XY sex reversal 3 skos:closeMatch OMIM:612965 46,xy sex reversal 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, with or without adrenal failure MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 MONDO:0013066 46,XY sex reversal 3 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612965 -MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013067 cataract 34 multiple types skos:closeMatch Orphanet:708 Peters anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612968 -MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013067 cataract 34 multiple types skos:closeMatch OMIM:612968 cataract 34, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 34, multiple types, with or without microcornea semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013068 age-related hearing impairment 2 skos:closeMatch OMIM:612976 age-related hearing impairment 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presbycusis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch OMIM:612989 optic atrophy 7 with or without auditory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 7 with or without auditory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013069 autosomal recessive optic atrophy, OPA7 type skos:closeMatch Orphanet:227976 Autosomal recessive optic atrophy, OPA7 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612989 MONDO:0013070 spermatogenic failure 7 skos:closeMatch OMIM:612997 spermatogenic failure 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male infertility, nonsyndromic, autosomal recessive MONDO:0013070 spermatogenic failure 7 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612997 -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 4, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch OMIM:612998 emery-dreifuss muscular dystrophy 4, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 4 with variable features semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 -MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612998 -MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612999 MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013072 Emery-Dreifuss muscular dystrophy 5, autosomal dominant skos:closeMatch OMIM:612999 emery-dreifuss muscular dystrophy 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 5, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal nonepidermolytic palmoplantar keratoderma MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppkfne MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch OMIM:613000 palmoplantar keratoderma, nonepidermolytic, focal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma, focal nonepidermolytic palmoplantar MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613000 +MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613001 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535736 MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406612 -MONDO:0013074 encephalocraniocutaneous lipomatosis skos:closeMatch Orphanet:2396 Encephalocraniocutaneous lipomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613001 -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement -MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:closeMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 2 semapv:RegularExpressionReplacement MONDO:0013077 Santos syndrome skos:closeMatch OMIM:613005 santos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome MONDO:0013078 type 1 diabetes mellitus 24 skos:closeMatch OMIM:613006 iia 1 diabetes mellitus 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, insulin-dependent, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch OMIM:613007 biliary cirrhosis, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 +MONDO:0013079 primary biliary cholangitis 2 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613007 MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch OMIM:613008 biliary cirrhosis, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013080 primary biliary cholangitis 3 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613008 MONDO:0013081 lymphoproliferative syndrome 1 skos:closeMatch Orphanet:538963 Combined immunodeficiency due to ITK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613011 -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroblastoma with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751683 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538119 -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch Orphanet:2151 Hirschsprung disease-ganglioneuroblastoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751683 +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome skos:closeMatch OMIM:613013 neuroblastoma, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroblastoma with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013083 neuroblastoma, susceptibility to, 3 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613014 MONDO:0013084 neuroblastoma, susceptibility to, 4 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613015 MONDO:0013085 neuroblastoma, susceptibility to, 5 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613016 MONDO:0013086 neuroblastoma, susceptibility to, 6 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613017 -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613021 +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome +MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013088 follicular lymphoma, susceptibility to, 1 skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613024 MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19q13.11 deletion syndrome, distal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013090 chromosome 19q13.11 deletion syndrome skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751651 -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751643 -MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613027 MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type ixc +MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder type ixc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013091 glycogen storage disease IXc skos:closeMatch OMIM:613027 glycogen storage disease ixc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd ixc +MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751643 +MONDO:0013091 glycogen storage disease IXc skos:closeMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613027 MONDO:0013091 glycogen storage disease IXc skos:exactMatch Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd type 9c MONDO:0013092 glioma susceptibility 2 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613028 MONDO:0013093 glioma susceptibility 3 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613029 @@ -22569,35 +22575,35 @@ MONDO:0013094 glioma susceptibility 5 skos:closeMatch Orphanet:182067 Glial tumo MONDO:0013095 glioma susceptibility 6 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613031 MONDO:0013096 glioma susceptibility 7 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613032 MONDO:0013097 glioma susceptibility 8 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613033 -MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing loss, noise-induced, susceptibility to MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, noise-induced, susceptibility to +MONDO:0013098 noise induced hearing loss skos:closeMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing loss, noise-induced, susceptibility to MONDO:0013099 combined pituitary hormone deficiencies, genetic form skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined pituitary hormone deficiencies, genetic forms MONDO:0013100 atrial fibrillation, familial, 8 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613055 -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp5, susceptibility to -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefs+5, susceptibility to -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gefsp5, susceptibility to +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, juvenile myoclonic, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613060 MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013107 dermatitis, atopic, 7 skos:closeMatch OMIM:613064 dermatitis, atopic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613065 MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, b-cell acute lymphoblastic, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, b-hyperdiploid, susceptibility to MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, t-cell acute lymphoblastic, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, b-hyperdiploid, susceptibility to +MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, b-cell acute lymphoblastic, susceptibility to MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym all1 -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch OMIM:613065 leukemia, acute lymphoblastic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic -MONDO:0013108 leukemia, acute lymphocytic, susceptibility to, 1 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613065 -MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch Orphanet:513 Acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613067 -MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration due to cerebral folate transport deficiency +MONDO:0013109 leukemia, acute lymphocytic, susceptibility to, 2 skos:closeMatch OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute lymphoblastic, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch Orphanet:217382 Neurodegenerative syndrome due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613068 +MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration due to cerebral folate transport deficiency MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency skos:closeMatch OMIM:613068 neurodegeneration due to cerebral folate transport deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration due to cerebral folate transport deficiency MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 +MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613071 bronchiectasis with or without elevated sweat chloride 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:613021 bronchiectasis with or without elevated sweat chloride 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome -MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic fibrosis-like syndrome MONDO:0013112 bronchiectasis with or without elevated sweat chloride 3 skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613071 MONDO:0013113 metaphyseal anadysplasia 2 skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613073 MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement @@ -22605,67 +22611,67 @@ MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch Or MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 skos:closeMatch OMIM:613074 deafness, autosomal dominant 50 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 50 semapv:RegularExpressionReplacement -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751321 -MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613075 MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, alopecia, cutis laxa, and scoliosis MONDO:0013115 RIN2 syndrome skos:closeMatch OMIM:613075 macs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tall forehead, sparse hair, skin hyperextensibility, and scoliosis +MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613075 +MONDO:0013115 RIN2 syndrome skos:closeMatch Orphanet:217335 RIN2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751321 MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial complex deficiency, combined MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch OMIM:613076 myopathy, mitochondrial progressive, with congenital cataract and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with cataract and combined respiratory chain deficiency -MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613076 MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751320 -MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome skos:closeMatch Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613076 MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613077 -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and spontaneous chromosome instability without immunodeficiency -MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 +MONDO:0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 skos:closeMatch OMIM:613077 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751318 +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613078 MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch Orphanet:240760 Nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement -MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rad50 deficiency +MONDO:0013118 Nijmegen breakage syndrome-like disorder skos:closeMatch OMIM:613078 nijmegen breakage syndrome-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and spontaneous chromosome instability without immunodeficiency MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613079 +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 skos:closeMatch OMIM:613079 deafness, autosomal recessive 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, cbx2-related MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, complete, cbx2-related -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, cbx2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013120 46,XY sex reversal 5 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613080 -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, cbx2-related -MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sex reversal, xy, cbx2-related MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013120 46,XY sex reversal 5 skos:closeMatch OMIM:613080 46,xy sex reversal 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disorder of sex development, type 46,xy, cbx2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013121 glaucoma 3, primary congenital, C skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613085 MONDO:0013122 glaucoma 3, primary congenital, D skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613086 MONDO:0013123 atrial septal defect 6 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613087 MONDO:0013124 pelvic organ prolapse, susceptibility to, 2 skos:closeMatch OMIM:613088 pelvic organ prolapse, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pvop2 +MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613089 +MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth -MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clapo MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lopez-gutierrez syndrome -MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth -MONDO:0013125 CLAPO syndrome skos:closeMatch Orphanet:168984 CLAPO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613089 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 +MONDO:0013125 CLAPO syndrome skos:closeMatch OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clapo MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432197 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 +MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93270 Short rib-polydactyly syndrome, Saldino-Noonan type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537602 -MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013127 asphyxiating thoracic dystrophy 3 skos:closeMatch Orphanet:93269 Short rib-polydactyly syndrome, Majewski type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613091 MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613092 MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ren-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 skos:closeMatch OMIM:613092 tubulointerstitial kidney disease, autosomal dominant, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early-onset hyperuricemia, anemia, and progressive kidney failure -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 MONDO:0013129 cone dystrophy 4 skos:closeMatch NCIT:C164226 Achromatopsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 MONDO:0013129 cone dystrophy 4 skos:closeMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:1871 Progressive cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 +MONDO:0013129 cone dystrophy 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613093 MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013130 isolated microphthalmia 4 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613094 +MONDO:0013130 isolated microphthalmia 4 skos:closeMatch OMIM:613094 microphthalmia, isolated 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013131 polycystic kidney disease 2 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613095 -MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613096 -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936879 -MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013131 polycystic kidney disease 2 skos:closeMatch OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 2 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch OMIM:613096 spastic paraplegia 36, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 36, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936879 +MONDO:0013132 hereditary spastic paraplegia 36 skos:closeMatch Orphanet:320365 Autosomal dominant spastic paraplegia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613096 MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613099 MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613101 MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles skos:closeMatch Orphanet:217407 Hereditary hypotrichosis with recurrent skin vesicles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613102 @@ -22677,139 +22683,139 @@ MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMa MONDO:0013140 candidiasis, familial, 4 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613108 MONDO:0013140 candidiasis, familial, 4 skos:closeMatch OMIM:613108 candidiasis, familial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613115 -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to elevated histidine-rich glycoprotein MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to histidine-rich glycoprotein deficiency MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to histidine-rich glycoprotein deficiency -MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch OMIM:613116 thrombophilia due to histidine-rich glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to elevated histidine-rich glycoprotein +MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency skos:closeMatch Orphanet:217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613116 MONDO:0013144 hereditary antithrombin deficiency skos:closeMatch Orphanet:82 Hereditary thrombophilia due to congenital antithrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613118 MONDO:0013144 hereditary antithrombin deficiency skos:exactMatch NCIT:C98815 Antithrombin III Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label antithrombin iii deficiency MONDO:0013145 Brugada syndrome 6 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613119 -MONDO:0013146 Brugada syndrome 7 skos:closeMatch OMIM:613120 brugada syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 +MONDO:0013146 Brugada syndrome 7 skos:closeMatch OMIM:613120 brugada syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial fibrillation, familial, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013146 Brugada syndrome 7 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613120 +MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613122 -MONDO:0013147 dilated cardiomyopathy 1CC skos:closeMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1cc semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013148 Brugada syndrome 8 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613123 MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome -MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0013150 parkinsonism-dystonia, infantile skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome +MONDO:0013150 parkinsonism-dystonia, infantile skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, with or without drusen MONDO:0013151 choroidal dystrophy, central areolar, 3 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613144 -MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613148 MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013153 inflammatory bowel disease 28 skos:exactMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013153 inflammatory bowel disease 28 skos:closeMatch Orphanet:238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613148 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613150 -MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomgnt1-related MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 +MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomgnt1-related MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch OMIM:613151 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 -MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fktn-related MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 +MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch OMIM:613152 muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), iia b, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, fktn-related MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch Orphanet:370980 Congenital muscular dystrophy without intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 -MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 +MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613153 MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 skos:closeMatch OMIM:613153 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, fkrp-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 -MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, large-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 +MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, large-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613154 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 -MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb1 +MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613155 MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt1-related +MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 skos:closeMatch OMIM:613155 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb1 MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch OMIM:613156 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, pomt2-related -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 -MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613157 MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch Orphanet:206564 POMGNT1-related limb-girdle muscular dystrophy R15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2o +MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O skos:closeMatch OMIM:613157 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt1-related MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch OMIM:613158 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomt2-related -MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2n MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613158 +MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N skos:closeMatch Orphanet:206559 POMT2-related limb-girdle muscular dystrophy R14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2n MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 MONDO:0013163 nephronophthisis-like nephropathy 1 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613159 -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291512 -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613161 -MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch OMIM:613161 beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-ureidopropionase deficiency -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613162 -MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-ureidopropionase deficiency +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291512 +MONDO:0013164 beta-ureidopropionase deficiency skos:closeMatch Orphanet:65287 Beta-ureidopropionase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613161 MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342708 -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 -MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613163 +MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch OMIM:613162 spastic paraplegia 45, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 45, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013165 hereditary spastic paraplegia 45 skos:closeMatch Orphanet:320396 Autosomal recessive spastic paraplegia type 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613162 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gaba-transaminase deficiency +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch OMIM:613163 gaba-transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaba-transaminase deficiency MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535407 -MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613163 +MONDO:0013166 GABA aminotransaminase deficiency skos:closeMatch Orphanet:2066 Gamma-aminobutyric acid transaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342708 MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013167 parkinson disease 16 skos:closeMatch OMIM:613164 parkinson disease 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch OMIM:613172 cardiomyopathy, dilated, 1dd semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1dd semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013168 dilated cardiomyopathy 1DD skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613172 MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613174 MONDO:0013169 chromosome 5p13 duplication syndrome skos:closeMatch Orphanet:329802 5p13 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750805 -MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613177 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750804 MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch OMIM:613177 cutis laxa, autosomal recessive, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities +MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies skos:closeMatch Orphanet:221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613177 MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613179 MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch Orphanet:760 Purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268125 MONDO:0013171 purine nucleoside phosphorylase deficiency skos:closeMatch OMIM:613179 purine nucleoside phosphorylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nucleoside phosphorylase deficiency MONDO:0013172 polymicrogyria with optic nerve hypoplasia skos:closeMatch Orphanet:250972 Polymicrogyria with optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750798 -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt13 -MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613193 +MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 +MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch OMIM:613192 intellectual developmental disorder, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch OMIM:613193 ciliary dyskinesia, primary, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613194 +MONDO:0013174 primary ciliary dyskinesia 13 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613193 MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch OMIM:613194 retinitis pigmentosa 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, concentric +MONDO:0013175 retinitis pigmentosa 50 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613194 MONDO:0013176 Weill-Marchesani 4 syndrome, recessive skos:closeMatch Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613195 MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750786 MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, due to integrin alpha-7 deficiency MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613204 MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, due to integrin alpha-7 deficiency MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency skos:closeMatch OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to integrin alpha-7 deficiency -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613205 -MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750785 MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, lmna-related MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch OMIM:613205 muscular dystrophy, congenital, lmna-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, lmna-related -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 44 -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750784 -MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613205 +MONDO:0013178 congenital muscular dystrophy due to LMNA mutation skos:closeMatch Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750785 MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch OMIM:613206 spastic paraplegia 44, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 44, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 44 +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613206 +MONDO:0013179 hereditary spastic paraplegia 44 skos:closeMatch Orphanet:320401 Autosomal recessive spastic paraplegia type 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750784 +MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhinoconjunctivitis, susceptibility to MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013180 asthma-related traits, susceptibility to, 8 skos:closeMatch OMIM:613207 asthma-related traits, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asthma-related traits, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 +MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia3 MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch OMIM:613211 amelogenesis imperfecta, hypomaturation type, iia3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia3 -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 -MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613211 -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750748 MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613215 -MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch Orphanet:217385 17p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750748 MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613216 -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013182 chromosome 17p13.3 duplication syndrome skos:closeMatch OMIM:613215 chromosome 17p13.3, centromeric, duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17p13.3, centromeric, duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013183 congenital stationary night blindness 1C skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613216 MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym enteropathy, congenital tufting MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal epithelial cell dysplasia +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch OMIM:613217 diarrhea 5, with tufting enteropathy, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch NCIT:C183530 Diarrhea 5, with Tufting Enteropathy, Congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 5, with tufting enteropathy, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013184 congenital diarrhea 5 with tufting enteropathy skos:closeMatch Orphanet:92050 Congenital tufting enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613217 -MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613223 MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch OMIM:613223 leprosy, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leprosy, protection against +MONDO:0013185 leprosy, susceptibility to, 5 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613223 MONDO:0013186 Noonan syndrome 6 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613224 MONDO:0013187 factor XIII, A subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613225 -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 -MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq3 MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch OMIM:613227 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq3 +MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613227 MONDO:0013190 factor XIII, b subunit, deficiency of skos:closeMatch Orphanet:331 Congenital factor XIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613235 MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch OMIM:613237 focal segmental glomerulosclerosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013191 focal segmental glomerulosclerosis 5 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613237 @@ -22819,79 +22825,79 @@ MONDO:0013195 hypertrophic cardiomyopathy 13 skos:closeMatch OMIM:613243 cardiom MONDO:0013196 Lynch syndrome 8 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613244 MONDO:0013197 hypertrophic cardiomyopathy 14 skos:closeMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013197 hypertrophic cardiomyopathy 14 skos:closeMatch OMIM:613251 cardiomyopathy, familial hypertrophic, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613252 MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch OMIM:613252 cardiomyopathy, dilated, 1ee semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ee semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613254 +MONDO:0013198 dilated cardiomyopathy 1EE skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613252 MONDO:0013199 tuberous sclerosis 2 skos:closeMatch OMIM:613254 tuberous sclerosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsc2 angiomyolipomas, renal, modifier of -MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013199 tuberous sclerosis 2 skos:closeMatch Orphanet:805 Tuberous sclerosis complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613254 MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013200 hypertrophic cardiomyopathy 15 skos:closeMatch OMIM:613255 cardiomyopathy, familial hypertrophic, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013201 Waardenburg syndrome type 4B skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613265 MONDO:0013202 Waardenburg syndrome type 4C skos:closeMatch Orphanet:897 Waardenburg-Shah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613266 -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 locus +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613267 MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd2 locus +MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613267 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 -MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613268 MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd3 locus -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613269 +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613270 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613267 corneal dystrophy, fuchs endothelial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613271 -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:610158 corneal dystrophy, fuchs endothelial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613268 corneal dystrophy, fuchs endothelial, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd4 locus MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613270 corneal dystrophy, fuchs endothelial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset +MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613269 corneal dystrophy, fuchs endothelial, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcd4 locus -MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 skos:closeMatch OMIM:613271 corneal dystrophy, fuchs endothelial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, fuchs endothelial, late-onset -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613280 MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia, polycythemia, and cirrhosis MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermanganesemia with dystonia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch Orphanet:309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613280 +MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome skos:closeMatch OMIM:613280 hypermanganesemia with dystonia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermanganesemia with dystonia, polycythemia, and cirrhosis MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch NCIT:C84444 Nonalcoholic Fatty Liver Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonalcoholic fatty liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver disorder, alcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fatty liver disorder, nonalcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613285 -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement +MONDO:0013209 non-alcoholic fatty liver disease skos:closeMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liver disorder, alcoholic, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch OMIM:613285 deafness, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613285 MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch OMIM:613286 cardiomyopathy, dilated, 1ff semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ff semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013211 dilated cardiomyopathy 1FF skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613286 -MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613287 MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750090 -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement +MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N skos:closeMatch Orphanet:228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613287 +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613307 -MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement +MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 skos:closeMatch OMIM:613307 deafness, autosomal recessive 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013216 Diamond-Blackfan anemia 9 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613308 MONDO:0013217 Diamond-Blackfan anemia 10 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613309 MONDO:0013218 exudative vitreoretinopathy 5 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613310 @@ -22904,47 +22910,47 @@ MONDO:0013221 Miyoshi muscular dystrophy 2 skos:closeMatch Orphanet:45448 Miyosh MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613319 MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch OMIM:613319 miyoshi muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013222 Miyoshi muscular dystrophy 3 skos:closeMatch Orphanet:399096 Distal anoctaminopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750076 -MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750075 MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spondylometaphyseal dysplasia, mégarbané type +MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750075 MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch Orphanet:401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:69077 Rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch Orphanet:231108 Familial rhabdoid tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 MONDO:0013225 congenital generalized lipodystrophy type 4 skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613327 MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613328 -MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay +MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman-chitayat syndrome MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch OMIM:613328 roifman-chitayat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman-chitayat syndrome MONDO:0013226 combined immunodeficiency with faciooculoskeletal anomalies skos:closeMatch Orphanet:221139 Combined immunodeficiency with faciooculoskeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750068 -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasminogen activator inhibitor-1 deficiency -MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NCIT:C133884 Plasminogen Activator Inhibitor-1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch Orphanet:465 Congenital plasminogen activator inhibitor type 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613329 +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plasminogen activator inhibitor-1 deficiency +MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch NCIT:C133884 Plasminogen Activator Inhibitor-1 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plasminogen activator inhibitor-1 deficiency MONDO:0013227 congenital plasminogen activator inhibitor type 1 deficiency skos:closeMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperfibrinolysis due to pai1 deficiency -MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750066 MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613330 +MONDO:0013228 spondylo-megaepiphyseal-metaphyseal dysplasia skos:closeMatch Orphanet:228387 Spondylo-megaepiphyseal-metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750066 MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 +MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 MONDO:0013231 Leber congenital amaurosis 14 skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, early-onset severe, lrat-related -MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613341 MONDO:0013231 Leber congenital amaurosis 14 skos:closeMatch OMIM:613341 leber congenital amaurosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, lrat-related -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931420 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613342 -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch Orphanet:2619 Brachydactylous dwarfism, Mseleni type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537086 +MONDO:0013232 brachydactylous dwarfism, Mseleni type skos:closeMatch OMIM:613342 mseleni joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mseleni joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hjd MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch OMIM:613343 handigodu joint disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym handigodu joint disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013233 spondyloepimetaphyseal dysplasia, Handigodu type skos:closeMatch Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613343 MONDO:0013234 hypokalemic periodic paralysis, type 2 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613345 MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613347 MONDO:0013235 pancreatic cancer, susceptibility to, 2 skos:closeMatch OMIM:613347 pancreatic cancer, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca2 -MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613348 MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch OMIM:613348 pancreatic cancer, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pnca3 +MONDO:0013236 pancreatic cancer, susceptibility to, 3 skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613348 MONDO:0013237 susceptibility to mononeuropathy of the median nerve, mild skos:closeMatch OMIM:613353 mononeuropathy of the median nerve, mild semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpal tunnel syndrome, susceptibility to MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome skos:closeMatch Orphanet:261279 17q23.1q23.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613355 MONDO:0013239 hereditary spastic paraplegia 41 skos:closeMatch Orphanet:320355 Autosomal dominant spastic paraplegia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613364 @@ -22955,8 +22961,8 @@ MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spi MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936793 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613371 MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537206 -MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch OMIM:613371 spinocerebellar ataxia 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013241 spinocerebellar ataxia type 30 skos:closeMatch Orphanet:211017 Spinocerebellar ataxia type 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 30 semapv:RegularExpressionReplacement MONDO:0013242 maturity-onset diabetes of the young type 11 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613375 MONDO:0013243 neuronopathy, distal hereditary motor, type 2C skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613376 @@ -22971,312 +22977,312 @@ MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch OMIM:613390 MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613390 MONDO:0013248 Fanconi anemia complementation group O skos:closeMatch NCIT:C176910 Fanconi Anemia, Complementation Group O semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group o MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a, with vestibular dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch OMIM:613391 deafness, autosomal recessive 84a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613391 MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613392 MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 skos:closeMatch OMIM:613392 deafness, autosomal recessive 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013251 Birbeck granule deficiency skos:closeMatch OMIM:613393 birbeck granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birbeck granules, absence of -MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613398 +MONDO:0013252 Warsaw breakage syndrome skos:closeMatch Orphanet:280558 Warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch OMIM:613398 warsaw breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome MONDO:0013252 Warsaw breakage syndrome skos:closeMatch NCIT:C164675 Warsaw Breakage Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warsaw breakage syndrome -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 -MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 +MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613399 MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 skos:closeMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613402 +MONDO:0013254 microcephaly, seizures, and developmental delay skos:closeMatch OMIM:613402 microcephaly, seizures, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, early infantile, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613404 +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym witteveen-kolk syndrome -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome +MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch OMIM:613406 witteveen-kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q24 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:94065 15q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613406 -MONDO:0013256 chromosome 15q24 deletion syndrome skos:closeMatch Orphanet:500163 Witteveen-Kolk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label witteveen-kolk syndrome MONDO:0013257 leprosy, susceptibility to, 6 skos:closeMatch Orphanet:548 Leprosy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613407 MONDO:0013258 autism, susceptibility to, 16 skos:closeMatch OMIM:613410 autism, susceptibility to, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism with or without seizures MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013259 Oguchi disease-2 skos:closeMatch OMIM:613411 oguchi disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oguchi disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013259 Oguchi disease-2 skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613411 -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 +MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613424 +MONDO:0013261 dilated cardiomyopathy 1R skos:closeMatch OMIM:613424 cardiomyopathy, dilated, 1r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1r semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym left ventricular noncompaction type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch OMIM:613426 cardiomyopathy, dilated, 1s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1s semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 -MONDO:0013262 dilated cardiomyopathy 1S skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613426 MONDO:0013263 retinitis pigmentosa 54 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613428 MONDO:0013264 amyotrophic lateral sclerosis type 12 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613435 -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch OMIM:613443 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 5q14.3 deletion syndrome, proximal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:228384 5q14.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body mass index quantitative trait locus type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p11.2 deletion syndrome, type 220-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch Orphanet:261222 Distal 16p11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613444 +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to +MONDO:0013267 distal 16p11.2 microdeletion syndrome skos:closeMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obesity, susceptibility to MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch OMIM:613451 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement -MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch OMIM:613453 deafness, autosomal recessive 91 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 91 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613453 MONDO:0013270 Rett syndrome, congenital variant skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613454 -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch Orphanet:306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch OMIM:613456 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontonasal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013272 chromosome 14q11-q22 deletion syndrome skos:closeMatch Orphanet:261120 14q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613457 MONDO:0013273 chromosome 16p13.3 duplication syndrome skos:closeMatch Orphanet:96078 16p13.3 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613458 MONDO:0013274 retinitis pigmentosa 51 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613464 -MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613470 MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency +MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency skos:closeMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency MONDO:0013276 Reynolds syndrome skos:closeMatch OMIM:613471 reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary biliary cirrhosis, scleroderma, raynaud disorder, and telangiectasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613471 MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748397 +MONDO:0013276 Reynolds syndrome skos:closeMatch Orphanet:779 Reynolds syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613471 MONDO:0013277 developmental and epileptic encephalopathy, 5 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613477 MONDO:0013278 lymphatic malformation 3 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613480 MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 MONDO:0013279 long QT syndrome 13 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613485 -MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:69078 Liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613488 -MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613489 +MONDO:0013280 myxoid liposarcoma skos:closeMatch Orphanet:99967 Myxoid/round cell liposarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018208 MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch OMIM:613489 congenital disorder of glycosylation, iia iij semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iij -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613490 +MONDO:0013281 COG4-congenital disorder of glycosylation skos:closeMatch Orphanet:263501 COG4-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613489 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001806 -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221757 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613490 MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1 antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-1-antitrypsin deficiency -MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019896 +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch OMIM:613490 alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1-antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch NCIT:C84397 Alpha-1 Antitrypsin Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alpha-1 antitrypsin deficiency +MONDO:0013282 alpha 1-antitrypsin deficiency skos:closeMatch Orphanet:60 Alpha-1-antitrypsin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221757 MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613493 MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch OMIM:613493 immunodeficiency, common variable, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd19 defect MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613494 MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch OMIM:613494 immunodeficiency, common variable, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to baffr defect -MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd20 defect MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613495 -MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd81 defect +MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch OMIM:613495 immunodeficiency, common variable, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd20 defect MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613496 -MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 +MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch OMIM:613496 immunodeficiency, common variable, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency due to cd81 defect MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 -MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79a defect +MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 +MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch OMIM:613501 agammaglobulinemia 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to cd79a defect MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613502 MONDO:0013289 agammaglobulinemia 4, autosomal recessive skos:closeMatch OMIM:613502 agammaglobulinemia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to blnk defect MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 -MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to lrrc8a defect MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613506 -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder with severe cardiomyopathy due to glycogenin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613507 -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013290 agammaglobulinemia 5, autosomal dominant skos:closeMatch OMIM:613506 agammaglobulinemia 5, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal dominant, due to lrrc8a defect MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenin deficiency +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch OMIM:613507 glycogen storage disease 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogenin deficiency +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613507 +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 15 semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycogen storage disorder with severe cardiomyopathy due to glycogenin deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013291 glycogen storage disease XV skos:closeMatch Orphanet:263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013292 chromosome 4q21 deletion syndrome skos:closeMatch Orphanet:238750 4q21 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613509 -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 -MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013293 isolated microphthalmia 6 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613517 +MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, posterior nonsyndromic +MONDO:0013293 isolated microphthalmia 6 skos:closeMatch OMIM:613517 microphthalmia, isolated 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013294 dermatitis, atopic, 8 skos:closeMatch OMIM:613518 dermatitis, atopic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, severity of -MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613523 -MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with fgfr1 rearrangement +MONDO:0013295 dermatitis, atopic, 9 skos:closeMatch OMIM:613519 dermatitis, atopic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dermatitis, atopic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch OMIM:613523 chromosome 8p11 myeloproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 8p11 myeloproliferative syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613523 +MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement skos:closeMatch Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with fgfr1 rearrangement MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H skos:closeMatch Orphanet:238755 Autosomal dominant limb-girdle muscular dystrophy type 1H semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613530 MONDO:0013298 chromosome 17q21.31 duplication syndrome skos:closeMatch Orphanet:217340 17q21.31 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613533 MONDO:0013299 chromosome 6q11-q14 deletion syndrome skos:closeMatch OMIM:613544 chromosome 6q11-q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 6q13-q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrostomia, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613545 MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrostomia, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym transverse cleft, isolated +MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrostomia, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lateral cleft, isolated MONDO:0013300 commissural facial cleft skos:closeMatch OMIM:613545 macrostomia, isolated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym commissural cleft, isolated -MONDO:0013300 commissural facial cleft skos:closeMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613545 -MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960539 MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613546 MONDO:0013301 aromatase deficiency skos:closeMatch OMIM:613546 aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohermaphroditism, female, due to placental aromatase deficiency MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537436 +MONDO:0013301 aromatase deficiency skos:closeMatch Orphanet:91 Aromatase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960539 MONDO:0013302 nephronophthisis 11 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613550 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264040 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131687 von Willebrand Disease, Type 2B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056728 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166090 Von Willebrand disease type 2M semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131688 von Willebrand Disease, Type 2M semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 +MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166093 Von Willebrand disease type 2N semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613554 -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131686 von Willebrand Disease, Type 2A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131689 von Willebrand Disease, Type 2N semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2n semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013304 von Willebrand disease 2 skos:closeMatch Orphanet:166081 Von Willebrand disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1264040 -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement +MONDO:0013304 von Willebrand disease 2 skos:closeMatch NCIT:C131688 von Willebrand Disease, Type 2M semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder, type 2m semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613558 MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613558 MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 9q21.11 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 skos:closeMatch OMIM:613558 deafness, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 51 semapv:RegularExpressionReplacement MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch Orphanet:254930 Combined oxidative phosphorylation defect type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613559 +MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013306 combined oxidative phosphorylation defect type 7 skos:closeMatch OMIM:613559 combined oxidative phosphorylation deficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613561 -MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 MONDO:0013308 CBL-related disorder skos:closeMatch NCIT:C176942 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia +MONDO:0013308 CBL-related disorder skos:closeMatch Orphanet:363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613563 MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cbl mutation-associated syndrome -MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to por deficiency -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency +MONDO:0013308 CBL-related disorder skos:closeMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disordered steroidogenesis due to por deficiency MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency -MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 +MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:exactMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome skos:closeMatch OMIM:613573 ectodermal dysplasia-syndactyly syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013312 retinitis pigmentosa 55 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613575 MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia-syndactyly syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome skos:closeMatch Orphanet:247827 Ectodermal dysplasia-cutaneous syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613576 MONDO:0013314 retinitis pigmentosa 56 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613581 MONDO:0013315 retinitis pigmentosa 57 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613582 -MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:613587 occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd -MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613587 MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd +MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:613587 occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omd +MONDO:0013316 occult macular dystrophy skos:closeMatch OMIM:618926 OMD semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym omd +MONDO:0013316 occult macular dystrophy skos:closeMatch Orphanet:247834 Occult macular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613587 MONDO:0013317 torsade-de-pointes syndrome with short coupling interval skos:closeMatch Orphanet:51084 Torsade-de-pointes syndrome with short coupling interval semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613600 MONDO:0013318 early repolarization associated with ventricular fibrillation skos:closeMatch OMIM:613601 early repolarization associated with ventricular fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym early repolarization syndrome -MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch OMIM:613604 chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 16p12.2-p11.2 deletion syndrome, type 7.1- to type 8.7-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome skos:closeMatch Orphanet:261211 16p11.2p12.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613604 MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym forsythe-wakeling syndrome -MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label forsythe-wakeling syndrome +MONDO:0013321 forsythe-wakeling syndrome skos:closeMatch OMIM:613606 forsythe-wakeling syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia +MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch OMIM:613608 epilepsy, familial adult myoclonic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013322 epilepsy, familial adult myoclonic, 3 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613608 -MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioectodermal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch OMIM:613610 cranioectodermal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013323 cranioectodermal dysplasia 2 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613610 +MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613611 MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choanal atresia and lymphedema MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch OMIM:613611 choanal atresia and lymphedema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label choanal atresia and lymphedema -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch Orphanet:99141 Lymphedema-posterior choanal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613611 MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch OMIM:613612 congenital disorder of glycosylation, iia iii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iii MONDO:0013325 COG5-congenital disorder of glycosylation skos:closeMatch Orphanet:263487 COG5-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613612 MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613615 -MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 +MONDO:0013326 Senior-Loken syndrome 7 skos:closeMatch OMIM:613615 senior-loken syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:416 Primary hyperoxaluria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 +MONDO:0013327 primary hyperoxaluria type 3 skos:closeMatch Orphanet:93600 Primary hyperoxaluria type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613616 MONDO:0013328 retinitis pigmentosa 58 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613617 +MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch OMIM:613618 chromosome 17q23.1-q23.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q23.1-q23.2 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:199315 Familial clubfoot with or without associated lower limb anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication skos:closeMatch Orphanet:238578 Familial clubfoot due to 17q23.1q23.2 microduplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613618 MONDO:0013331 factor 5 and Factor VIII, combined deficiency of, 2 skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613625 -MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:603438 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome +MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013332 brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability skos:closeMatch OMIM:613627 brachydactyly, iia a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tsukahara syndrome MONDO:0013334 cocoon syndrome skos:closeMatch Orphanet:465824 Fetal encasement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613630 -MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst1 MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst reactivity, absence of -MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 19p13.13 microdeletion syndrome +MONDO:0013335 tuberculin skin test reactivity, absence of skos:closeMatch OMIM:613636 tuberculin skin test reactivity, absence of semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tst1 MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613638 MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch OMIM:613638 chromosome 19p13.13 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13.13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013336 chromosome 19p13.13 deletion syndrome skos:closeMatch Orphanet:357001 19p13.13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 19p13.13 microdeletion syndrome MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch OMIM:613640 neuropathy, hereditary sensory and autonomic, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 1c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613640 -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate b MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch Orphanet:254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613641 -MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate b +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B skos:closeMatch OMIM:613641 charcot-marie-tooth disease, recessive intermediate B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1gg semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013339 dilated cardiomyopathy 1GG skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613642 MONDO:0013340 Parkinson disease 5, autosomal dominant, susceptibility to skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613643 MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch Orphanet:280183 Methylmalonic aciduria due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613646 -MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch NCIT:C183527 Methylmalonic Acidemia, TcblR Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia, tcblr type MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria, transient, due to transcobalamin receptor defect MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylmalonic aciduria, transient, due to transcobalamin receptor defect -MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 48, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect skos:closeMatch NCIT:C183527 Methylmalonic Acidemia, TcblR Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic acidemia, tcblr type MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 48, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 48, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013342 hereditary spastic paraplegia 48 skos:closeMatch Orphanet:306511 Autosomal recessive spastic paraplegia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613647 MONDO:0013343 C1Q deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613652 MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:closeMatch OMIM:613656 migraine with or without aura, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine with or without aura, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013344 migraine, with or without aura, susceptibility to, 13 skos:closeMatch OMIM:613656 migraine with or without aura, susceptibility to, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym migraine with or without aura, susceptibility to, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613657 +MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013345 d-2-hydroxyglutaric aciduria 2 skos:closeMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label d-2-hydroxyglutaric aciduria type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch OMIM:613660 cone-rod dystrophy 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 MONDO:0013348 cone-rod dystrophy 15 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613660 MONDO:0013349 ALG11-congenital disorder of glycosylation skos:closeMatch Orphanet:280071 ALG11-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613661 +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613662 +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mngie, polg-related -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related -MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch Orphanet:298 Mitochondrial neurogastrointestinal encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613662 +MONDO:0013350 mitochondrial DNA depletion syndrome 4b skos:closeMatch OMIM:613662 mitochondrial DNA depletion syndrome 4b (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 4b (mngie type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613668 MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, postnatal progressive, with seizures and brain atrophy MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, postnatal progressive, with seizures and brain atrophy -MONDO:0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly skos:closeMatch Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613668 MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation with language impairment and with or without autistic features MONDO:0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome skos:closeMatch Orphanet:391372 Intellectual disability-severe speech delay-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613670 -MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613671 MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, anterior maxillary protrusion, and strabismus MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrams -MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013353 intellectual disability, anterior maxillary protrusion, and strabismus skos:closeMatch Orphanet:562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613671 MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613672 MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome MONDO:0013354 spastic ataxia 4 skos:closeMatch Orphanet:254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spastic ataxia type 4 semapv:RegularExpressionReplacement +MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013354 spastic ataxia 4 skos:closeMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 4, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:293825 Congenital dyserythropoietic anemia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 MONDO:0013355 congenital dyserythropoietic anemia type 4 skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613673 MONDO:0013356 vesicoureteral reflux 3 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613674 +MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nf1 microduplication syndrome -MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613675 MONDO:0013358 Seckel syndrome 4 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613676 MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch Orphanet:251274 Familial hyperaldosteronism type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613677 MONDO:0013359 familial hyperaldosteronism type III skos:exactMatch NCIT:C127163 Familial Hyperaldosteronism Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hyperaldosteronism type 3 @@ -23284,84 +23290,84 @@ MONDO:0013359 familial hyperaldosteronism type III skos:closeMatch OMIM:613677 h MONDO:0013360 brachyolmia, Maroteaux type skos:closeMatch Orphanet:93302 Brachyolmia, Maroteaux type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613678 MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020640 MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613679 -MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin deficiency, congenital MONDO:0013361 congenital prothrombin deficiency skos:closeMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital factor ii deficiency +MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prothrombin deficiency, congenital MONDO:0013361 congenital prothrombin deficiency skos:closeMatch OMIM:613679 prothrombin deficiency, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prothrombin deficiency, congenital MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch Orphanet:363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613680 +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beaulieu-boycott-innes syndrome MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beaulieu-boycott-innes syndrome -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome skos:closeMatch OMIM:613680 beaulieu-boycott-innes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beaulieu-boycott-innes syndrome MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch OMIM:613681 chromosome 2q31.1 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mesomelic dysplasia, type 2q31.1 duplication-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013363 chromosome 2q31.1 duplication syndrome skos:closeMatch Orphanet:1836 Mesomelic dysplasia, Kantaputra type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613681 -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch NCIT:C153291 Rubinstein-Taybi Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement -MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613684 +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch OMIM:613684 rubinstein-taybi syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency skos:closeMatch NCIT:C153291 Rubinstein-Taybi Syndrome Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubinstein-taybi syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch OMIM:613685 deafness, autosomal recessive 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613685 MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:611818 long qt syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/9, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 +MONDO:0013367 long QT syndrome 2 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013367 long QT syndrome 2 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613688 MONDO:0013368 mammary-digital-nail syndrome skos:closeMatch Orphanet:238744 Mammary-digital-nail syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613689 MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013369 hypertrophic cardiomyopathy 7 skos:closeMatch OMIM:613690 cardiomyopathy, familial hypertrophic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 6, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 +MONDO:0013370 long QT syndrome 6 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613693 +MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:603830 long qt syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 3/6, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013370 long QT syndrome 6 skos:closeMatch OMIM:613693 long qt syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 6, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613694 MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1u semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch OMIM:613694 cardiomyopathy, dilated, 1u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1u semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013371 dilated cardiomyopathy 1U skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613694 MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 5, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613695 long qt syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013372 long QT syndrome 5 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 2/5, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 +MONDO:0013372 long QT syndrome 5 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613695 MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch OMIM:613697 cardiomyopathy, dilated, 1v semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1v semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013373 dilated cardiomyopathy 1V skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613697 -MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch Orphanet:2345 Isolated Klippel-Feil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613702 +MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant skos:closeMatch OMIM:613702 klippel-feil syndrome 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 3, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013376 microphthalmia, isolated, with coloboma 6 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613703 -MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013377 isolated microphthalmia 7 skos:closeMatch OMIM:613704 microphthalmia, isolated 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013377 isolated microphthalmia 7 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613704 MONDO:0013378 orofacial cleft 10 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613705 MONDO:0013379 Noonan syndrome 7 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613706 MONDO:0013380 LEOPARD syndrome 3 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613707 MONDO:0013381 neuropathy, hereditary sensory, type 1D skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613708 -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal necrosis, bilateral, and progressive polyneuropathy MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal degeneration and progressive polyneuropathy MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613710 -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral striatal degeneration and progressive polyneuropathy +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch Orphanet:217396 Progressive polyneuropathy with bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive polyneuropathy with bilateral striatal necrosis +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis skos:closeMatch OMIM:613710 thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striatal necrosis, bilateral, and progressive polyneuropathy MONDO:0013383 Hirschsprung disease, susceptibility to, 3 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613711 MONDO:0013384 Hirschsprung disease, susceptibility to, 4 skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613712 -MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch OMIM:613717 treacher collins syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013385 Treacher Collins syndrome 2 skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613717 MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement +MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch OMIM:613718 deafness, autosomal recessive 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613718 MONDO:0013387 developmental and epileptic encephalopathy, 7 skos:closeMatch Orphanet:439218 KCNQ2-related epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613720 -MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613721 MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:exactMatch NCIT:C172096 Developmental and Epileptic Encephalopathy 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013388 developmental and epileptic encephalopathy, 11 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613721 MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 MONDO:0013389 developmental and epileptic encephalopathy, 12 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613722 MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:closeMatch Orphanet:254361 Plectin-related limb-girdle muscular dystrophy R17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2q @@ -23369,78 +23375,78 @@ MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q skos:cl MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with dystonia and motor neuropathy MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch OMIM:613724 leukoencephalopathy with dystonia and motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with dystonia and motor neuropathy MONDO:0013391 sterol carrier protein 2 deficiency skos:closeMatch Orphanet:163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613724 +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613728 +MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset autosomal recessive cerebellar ataxia MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch OMIM:613728 spinocerebellar ataxia, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset autosomal recessive cerebellar ataxia -MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 skos:closeMatch Orphanet:284289 Adult-onset autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613728 MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch Orphanet:254351 Distal 7q11.23 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613729 -MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 7q11.23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym distal chromosome type 7q11.23 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013393 distal 7q11.23 microdeletion syndrome skos:closeMatch OMIM:613729 chromosome 7q11.23 deletion syndrome, distal, 1.2-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 7q11.23 deletion syndrome, distal, type 1.2-mb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613730 MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhagic destruction of the brain, subependymal calcification, and cataracts +MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch Orphanet:306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613730 MONDO:0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome skos:closeMatch OMIM:613730 hemorrhagic destruction of the brain, subependymal calcification, and cataracts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhagic destruction of the brain, subependymal calcification, and cataracts -MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613731 MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch OMIM:613731 retinitis pigmentosa 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, rhodopsin-related +MONDO:0013395 retinitis pigmentosa 4 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613731 +MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain malformations with or without urinary tract defects MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:closeMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations with or without urinary tract defects -MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013396 chromosome 1p32-p31 deletion syndrome skos:exactMatch OMIM:613735 brain malformations with or without urinary tract defects semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chromosome type 1p32-p31 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013397 acne inversa, familial, 2 skos:closeMatch OMIM:613736 acne inversa, familial, 2, with or without dowling-degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acne inversa, familial, type 2, with or without dowling-degos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613743 +MONDO:0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency skos:closeMatch Orphanet:168558 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613744 +MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013401 hereditary spastic paraplegia 51 skos:closeMatch OMIM:613744 spastic paraplegia 51, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 51, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013402 retinitis pigmentosa 27 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613750 MONDO:0013403 heterotaxy, visceral, 4, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613751 +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613752 MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch Orphanet:88618 S-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151058 -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase skos:closeMatch OMIM:613752 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency MONDO:0013405 retinitis pigmentosa 49 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613756 MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013406 age related macular degeneration 6 skos:closeMatch OMIM:613757 macular degeneration, age-related, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013407 retinitis pigmentosa 47 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613758 -MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fadd deficiency MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations +MONDO:0013408 FADD-related immunodeficiency skos:closeMatch OMIM:613759 immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fadd deficiency MONDO:0013408 FADD-related immunodeficiency skos:closeMatch Orphanet:306550 FADD-related immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613759 -MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, map3k1-related +MONDO:0013409 age related macular degeneration 5 skos:closeMatch OMIM:613761 macular degeneration, age-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy gonadal dysgenesis, partial or complete, map3k1-related +MONDO:0013410 46,XY sex reversal 6 skos:closeMatch OMIM:613762 46,xy sex reversal 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, partial or complete, map3k1-related MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 MONDO:0013410 46,XY sex reversal 6 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613762 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 -MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital lamellar -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 16, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital lamellar +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98993 Early-onset posterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 MONDO:0013411 cataract 16 multiple types skos:closeMatch OMIM:613763 cataract 16, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, posterior polar, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:441452 Early-onset lamellar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 +MONDO:0013411 cataract 16 multiple types skos:closeMatch Orphanet:98995 Early-onset zonular cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613763 MONDO:0013413 retinitis pigmentosa 45 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613767 MONDO:0013414 retinitis pigmentosa 44 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613769 MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013416 age related macular degeneration 8 skos:closeMatch OMIM:613778 macular degeneration, age-related, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3 deficiency, autosomal recessive -MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d -MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 +MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613779 +MONDO:0013417 complement component 3 deficiency skos:closeMatch Orphanet:280133 Complement component 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151071 MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:120700 C3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c3d MONDO:0013417 complement component 3 deficiency skos:closeMatch OMIM:613779 complement component 3 deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 3 deficiency, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial, with or without aortic aneurysm MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613780 +MONDO:0013418 aortic aneurysm, familial thoracic 7 skos:closeMatch OMIM:613780 aortic aneurysm, familial thoracic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial, with or without aortic aneurysm MONDO:0013419 complement component C1s deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613783 MONDO:0013419 complement component C1s deficiency skos:closeMatch OMIM:613783 complement component c1s deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c1s deficiency -MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013420 age related macular degeneration 12 skos:closeMatch OMIM:613784 macular degeneration, age-related, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 beta deficiency MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8b deficiency MONDO:0013421 type II complement component 8 deficiency skos:closeMatch OMIM:613789 complement component 8 deficiency, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 8b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -23448,64 +23454,64 @@ MONDO:0013421 type II complement component 8 deficiency skos:closeMatch Orphanet MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8 alpha-gamma deficiency MONDO:0013422 type I complement component 8 deficiency skos:closeMatch OMIM:613790 complement component 8 deficiency, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c8ag deficiency MONDO:0013422 type I complement component 8 deficiency skos:closeMatch Orphanet:169150 Immunodeficiency due to a late component of complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613790 -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label masp2 deficiency +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151085 +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613791 MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label masp2 deficiency MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch OMIM:613791 masp2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masp2 deficiency -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613791 -MONDO:0013423 immunodeficiency due to MASP-2 deficiency skos:closeMatch Orphanet:331187 Immunodeficiency due to MASP-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151085 MONDO:0013424 3p- syndrome skos:closeMatch Orphanet:1620 Distal monosomy 3p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613792 MONDO:0013424 3p- syndrome skos:closeMatch NCIT:C41377 del(3p25) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label del(3p25) MONDO:0013425 retinitis pigmentosa 20 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613794 -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysms-osteoarthritis syndrome MONDO:0013426 aneurysm-osteoarthritis syndrome skos:exactMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 3 -MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome with osteoarthritis -MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31b, mycobacterial and viral infections, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch NCIT:C186786 Loeys-Dietz Syndrome Type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 3 semapv:RegularExpressionReplacement +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch Orphanet:284984 Aneurysm-osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613795 +MONDO:0013426 aneurysm-osteoarthritis syndrome skos:closeMatch OMIM:613795 loeys-dietz syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysms-osteoarthritis syndrome MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal recessive +MONDO:0013427 immunodeficiency 31B skos:closeMatch OMIM:613796 immunodeficiency 31b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31b, mycobacterial and viral infections, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013427 immunodeficiency 31B skos:closeMatch Orphanet:391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613796 +MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch OMIM:613800 meier-gorlin syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013428 Meier-Gorlin syndrome 2 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613800 MONDO:0013429 retinitis pigmentosa 40 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613801 +MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613803 MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013430 Meier-Gorlin syndrome 3 skos:closeMatch OMIM:613803 meier-gorlin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613804 MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch OMIM:613804 meier-gorlin syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013431 Meier-Gorlin syndrome 4 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613804 -MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch OMIM:613805 meier-gorlin syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013432 Meier-Gorlin syndrome 5 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613805 -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cholangitis, primary sclerosing +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613806 +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0566602 MONDO:0013433 primary sclerosing cholangitis skos:closeMatch OMIM:613806 cholangitis, primary sclerosing semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholangitis, primary sclerosing MONDO:0013433 primary sclerosing cholangitis skos:exactMatch NCIT:C4828 Primary Sclerosing Cholangitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary sclerosing cholangitis -MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613806 -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 +MONDO:0013433 primary sclerosing cholangitis skos:closeMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036732 MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 14, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 +MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch OMIM:613807 ciliary dyskinesia, primary, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013434 primary ciliary dyskinesia 14 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613807 MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch OMIM:613808 ciliary dyskinesia, primary, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013435 primary ciliary dyskinesia 15 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613808 MONDO:0013436 retinitis pigmentosa 39 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613809 MONDO:0013437 retinitis pigmentosa 43 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613810 -MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch OMIM:613811 pontocerebellar hypoplasia, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellocerebral atrophy, progressive MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613811 -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013438 pontocerebellar hypoplasia type 2D skos:closeMatch OMIM:613811 pontocerebellar hypoplasia, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellocerebral atrophy, progressive MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 -MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613812 +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch OMIM:613812 bile acid synthesis defect, congenital, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3151147 MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 -MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2p +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566340 +MONDO:0013439 congenital bile acid synthesis defect 3 skos:closeMatch Orphanet:79302 Congenital bile acid synthesis defect type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613812 MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613818 MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch OMIM:613818 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related +MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P skos:closeMatch Orphanet:280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2p MONDO:0013441 asphyxiating thoracic dystrophy 4 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613819 MONDO:0013442 nephronophthisis 12 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613820 MONDO:0013442 nephronophthisis 12 skos:closeMatch OMIM:613820 nephronophthisis 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -23519,9 +23525,9 @@ MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 skos:close MONDO:0013449 Leber congenital amaurosis 7 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613829 MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613830 MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013450 congenital stationary night blindness 1D skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613830 MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch Orphanet:404463 Multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613834 MONDO:0013452 multisystemic smooth muscle dysfunction syndrome skos:closeMatch OMIM:613834 multisystemic smooth muscle dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy MONDO:0013453 Leber congenital amaurosis 8 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613835 @@ -23529,15 +23535,15 @@ MONDO:0013454 Leber congenital amaurosis 11 skos:closeMatch Orphanet:65 Leber co MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013455 hypertrophic cardiomyopathy 16 skos:closeMatch OMIM:613838 cardiomyopathy, familial hypertrophic, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613839 -MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megaloblastic anemia due to dihydrofolate reductase deficiency MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaloblastic anemia due to dihydrofolate reductase deficiency +MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease skos:closeMatch OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megaloblastic anemia due to dihydrofolate reductase deficiency MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch OMIM:613843 leber congenital amaurosis 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, tulp1-related MONDO:0013457 Leber congenital amaurosis 15 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613843 -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome -MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613845 MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hupra syndrome MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch OMIM:613845 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome +MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome skos:closeMatch Orphanet:363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613845 MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 MONDO:0013459 osteogenesis imperfecta type 10 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613848 MONDO:0013460 osteogenesis imperfecta type 12 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613849 @@ -23550,95 +23556,95 @@ MONDO:0013464 episodic ataxia type 5 skos:closeMatch Orphanet:211067 Episodic at MONDO:0013465 achromatopsia 4 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613856 MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch Orphanet:331190 Immunodeficiency due to ficolin3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613860 -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fcn3 deficiency +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013467 immunodeficiency due to ficolin3 deficiency skos:closeMatch OMIM:613860 ficolin 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ficolin type 3 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013468 retinitis pigmentosa 59 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613861 MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch OMIM:613862 retinitis pigmentosa 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rod-cone dystrophy, childhood-onset MONDO:0013469 retinitis pigmentosa 38 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613862 -MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613863 MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch OMIM:613863 generalized epilepsy with febrile seizures plus, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement +MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613863 MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613865 -MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613869 +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch OMIM:613865 deafness, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 61 semapv:RegularExpressionReplacement +MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613865 MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mfm, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch OMIM:613869 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related -MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy skos:closeMatch Orphanet:280553 Fatal infantile hypertonic myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613869 MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013473 Hirschsprung disease, cardiac defects, and autonomic dysfunction skos:closeMatch OMIM:613870 hirschsprung disease, cardiac defects, and autonomic dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hirschsprung disorder, cardiac defects, and autonomic dysfunction semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013474 hypertrophic cardiomyopathy 17 skos:closeMatch OMIM:613873 cardiomyopathy, familial hypertrophic, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013475 hypertrophic cardiomyopathy 18 skos:closeMatch OMIM:613874 cardiomyopathy, familial hypertrophic, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013477 hypertrophic cardiomyopathy 20 skos:closeMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013477 hypertrophic cardiomyopathy 20 skos:closeMatch OMIM:613876 cardiomyopathy, familial hypertrophic, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch OMIM:613877 lipodystrophy, familial partial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with plin1 mutations MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch Orphanet:280356 PLIN1-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613877 -MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613881 +MONDO:0013478 PLIN1-related familial partial lipodystrophy skos:closeMatch OMIM:613877 lipodystrophy, familial partial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with plin1 mutations MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1hh semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch OMIM:613881 cardiomyopathy, dilated, 1hh semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1hh semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013479 dilated cardiomyopathy 1HH skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613881 MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013480 renal hypomagnesemia 6 skos:closeMatch OMIM:613882 hypomagnesemia 6, renal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia type 6, renal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch OMIM:613884 chromosome 13q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 13q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613884 MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monosomy type 13q14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013481 chromosome 13q14 deletion syndrome skos:closeMatch Orphanet:1587 Monosomy 13q14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613884 MONDO:0013482 Meckel syndrome, type 8 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613885 MONDO:0013484 cataract 36 skos:closeMatch OMIM:613887 cataract 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613908 MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch Orphanet:276193 Spinocerebellar ataxia type 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013485 spinocerebellar ataxia type 35 skos:closeMatch OMIM:613908 spinocerebellar ataxia 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch Orphanet:276183 Spinocerebellar ataxia type 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613909 +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013486 spinocerebellar ataxia type 32 skos:closeMatch OMIM:613909 spinocerebellar ataxia 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398764 MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym factor d deficiency -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613912 MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor d deficiency +MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613912 MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch OMIM:613912 complement factor d deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor d deficiency -MONDO:0013487 recurrent Neisseria infections due to factor D deficiency skos:closeMatch Orphanet:169467 Recurrent Neisseria infections due to factor D deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398764 +MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, associated with c3 nephritic factor MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis -MONDO:0013488 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis skos:closeMatch OMIM:613913 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613916 +MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch OMIM:613916 deafness, autosomal recessive 89 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 89 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613916 MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613925 -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc2b -MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 -MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613926 +MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability skos:closeMatch OMIM:613926 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mlc2b MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa carboxylase deficiency -MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa carboxylase deficiency +MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch OMIM:613930 alopecia-intellectual disability syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alopecia-mental retardation syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acaca deficiency +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acetyl-coa carboxylase deficiency +MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa carboxylase deficiency MONDO:0013493 acetyl-coa carboxylase deficiency skos:closeMatch OMIM:613933 acetyl-coa carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acc1 deficiency MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, lamellar, type 4, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lamellar ichthyosis, late-onset +MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613943 MONDO:0013495 autosomal recessive congenital ichthyosis 8 skos:closeMatch OMIM:613943 ichthyosis, congenital, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013497 Okt4 epitope deficiency skos:closeMatch OMIM:613949 okt4 epitope deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t4 epitope deficiency -MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 15 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia susceptibility locus, chromosome type 22q13-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group p +MONDO:0013498 schizophrenia 15 skos:closeMatch OMIM:613950 schizophrenia 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 15 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group p +MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch OMIM:613951 fanconi anemia, complementation group p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group p MONDO:0013499 Fanconi anemia complementation group P skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613951 MONDO:0013500 immunodeficiency 51 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613953 +MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:613953 immunodeficiency 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013500 immunodeficiency 51 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613954 MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613956 MONDO:0013503 candidiasis, familial, 6 skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant +MONDO:0013503 candidiasis, familial, 6 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613956 MONDO:0013504 spermatogenic failure 8 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613957 MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, complete MONDO:0013505 spermatogenic failure 9 skos:closeMatch OMIM:613958 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia, total @@ -23652,82 +23658,82 @@ MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch Orph MONDO:0013509 intellectual disability, autosomal dominant 6 skos:closeMatch OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 6, with or without seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613972 MONDO:0013511 cyanosis, transient neonatal skos:closeMatch Orphanet:280615 Hemoglobinopathy Toms River semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613977 -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613978 +MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063435 -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, nondeletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613978 +MONDO:0013512 hemoglobin H disease skos:closeMatch NCIT:C95504 Hemoglobin H Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161174 +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, deletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch Orphanet:93616 Hemoglobin H disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, nondeletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch OMIM:613978 hemoglobin h disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemoglobin h disorder, deletional semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013512 hemoglobin H disease skos:closeMatch NCIT:C95504 Hemoglobin H Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobin h disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013513 atrial fibrillation, familial, 9 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613980 MONDO:0013514 hypotrichosis 3 skos:closeMatch Orphanet:90368 Hypotrichosis simplex of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613981 MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 MONDO:0013515 osteogenesis imperfecta type 6 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613982 MONDO:0013516 retinitis pigmentosa 60 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613983 -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-thalassemia MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia -MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231222 Beta-thalassemia intermedia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch OMIM:613985 beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beta-thalassemia +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:231214 Beta-thalassemia major semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 +MONDO:0013517 beta-thalassemia HBB/LCRB skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613985 MONDO:0013518 pituitary hormone deficiency, combined, 6 skos:closeMatch Orphanet:95494 Combined pituitary hormone deficiencies, genetic forms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613986 MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613987 MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613988 +MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 -MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613989 -MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 +MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613990 MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch Orphanet:280576 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614008 MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch OMIM:614008 nestor-guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset, with osteolysis +MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor +MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614009 MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 13, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch Orphanet:220443 Bleeding diathesis due to thromboxane synthesis deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614009 -MONDO:0013524 bleeding diathesis due to thromboxane synthesis deficiency skos:closeMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, susceptibility to, due to defective platelet thromboxane a2 receptor +MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614017 +MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch OMIM:614017 ciliary dyskinesia, primary, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013525 primary ciliary dyskinesia 16 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614017 MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch Orphanet:280620 Progressive myoclonic epilepsy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614018 -MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013527 lissencephaly 4 skos:closeMatch OMIM:614019 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 4 with microcephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013526 progressive myoclonic epilepsy type 6 skos:closeMatch OMIM:614018 epilepsy, progressive myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013527 lissencephaly 4 skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614019 -MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 +MONDO:0013527 lissencephaly 4 skos:closeMatch OMIM:614019 lissencephaly 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 4 with microcephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch OMIM:614020 intellectual developmental disorder, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt14 -MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614021 MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 skos:closeMatch OMIM:614021 ventricular tachycardia, catecholaminergic polymorphic, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013530 atrial fibrillation, familial, 10 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614022 MONDO:0013531 PSPH deficiency skos:closeMatch Orphanet:79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614023 -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipc deficiency -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia due to hepatic triacylglycerol lipase deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic lipase deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614025 -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic lipase deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch Orphanet:140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperlipidemia due to hepatic triacylglycerol lipase deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:246450 3-hydroxy-3-methylglutaryl-coa lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency +MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch OMIM:614025 hepatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hl deficiency MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614028 MONDO:0013534 apolipoprotein c-III deficiency skos:closeMatch OMIM:614028 apolipoprotein c-iii deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperalphalipoproteinemia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency skos:closeMatch OMIM:614033 hydroxyacyl glutathione hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glyoxalase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013536 heme oxygenase 1 deficiency skos:closeMatch Orphanet:562509 Heme oxygenase-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614034 -MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement +MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch OMIM:614035 deafness, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 29 semapv:RegularExpressionReplacement MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614035 -MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614037 MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279662 -MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, primary, with myelodysplasia +MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome skos:closeMatch Orphanet:79507 Hypotonia-failure to thrive-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614037 MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphedema, primary, with myelodysplasia +MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch OMIM:614038 lymphedema, primary, with myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphedema, primary, with myelodysplasia MONDO:0013540 deafness-lymphedema-leukemia syndrome skos:closeMatch Orphanet:3226 Deafness-lymphedema-leukemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614038 -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614039 MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch Orphanet:300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614039 +MONDO:0013541 complex cortical dysplasia with other brain malformations 1 skos:closeMatch OMIM:614039 cortical dysplasia, complex, with other brain malformations 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013542 Moyamoya disease 5 skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614042 MONDO:0013544 atrial fibrillation, familial, 11 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614049 MONDO:0013545 atrial fibrillation, familial, 12 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614050 @@ -23739,8 +23745,8 @@ MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614 MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetyl-coa acetyltransferase-2 deficiency MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:614055 acetyl-coa acetyltransferase-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acat2 deficiency MONDO:0013548 acetyl-CoA acetyltransferase-2 deficiency skos:closeMatch OMIM:100678 ACAT2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acetocoenzyme a acetyltransferase type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoacetylaspartia MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym naa deficiency +MONDO:0013549 N-acetylaspartate deficiency skos:closeMatch OMIM:614063 n-acetylaspartate deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoacetylaspartia MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch OMIM:614065 myopathy, distal, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 @@ -23749,152 +23755,152 @@ MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spast MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 47, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch OMIM:614066 spastic paraplegia 47, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013551 hereditary spastic paraplegia 47 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614066 -MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614067 MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 52, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch OMIM:614067 spastic paraplegia 52, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral palsy, spastic quadriplegic, type 6, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013552 hereditary spastic paraplegia 52 skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614067 MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614069 -MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 -MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 +MONDO:0013555 Hermansky-Pudlak syndrome 3 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614072 MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 +MONDO:0013556 Hermansky-Pudlak syndrome 4 skos:closeMatch Orphanet:231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614073 MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 MONDO:0013557 Hermansky-Pudlak syndrome 5 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614074 -MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 -MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 +MONDO:0013558 Hermansky-Pudlak syndrome 6 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614075 MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 +MONDO:0013559 Hermansky-Pudlak syndrome 7 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614076 MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 MONDO:0013560 Hermansky-Pudlak syndrome 8 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614077 MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch Orphanet:280586 Chondrodysplasia with joint dislocations, gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 MONDO:0013562 aspergillosis, susceptibility to skos:closeMatch Orphanet:1163 Aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614079 -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome -MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614080 MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch OMIM:614080 multiple congenital anomalies-hypotonia-seizures syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614080 +MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 skos:closeMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0013564 anhaptoglobinemia skos:closeMatch OMIM:614081 anhaptoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahaptoglobinemia -MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch NCIT:C125708 Fanconi Anemia, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614082 +MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch NCIT:C125708 Fanconi Anemia, Complementation Group G semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group g MONDO:0013565 Fanconi anemia complementation group G skos:closeMatch OMIM:614082 fanconi anemia, complementation group g semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group g -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614083 -MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch OMIM:614083 fanconi anemia, complementation group 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013566 Fanconi anemia complementation group L skos:closeMatch NCIT:C164677 Fanconi Anemia, Complementation Group L semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group l MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 +MONDO:0013567 atrial septal defect 3 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614089 MONDO:0013568 sick sinus syndrome 3, susceptibility to skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614090 -MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:498497 Short rib-polydactyly syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614096 -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614091 MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, hypertrophic mitochondrial, fatal infantile +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch OMIM:614096 combined oxidative phosphorylation deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268419 +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:exactMatch NCIT:C180851 Combined Oxidative Phosphorylation Deficiency 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 8 semapv:RegularExpressionReplacement +MONDO:0013570 combined oxidative phosphorylation defect type 8 skos:closeMatch Orphanet:319504 Combined oxidative phosphorylation defect type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614096 MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614097 +MONDO:0013571 acatalasia skos:closeMatch Orphanet:926 Acatalasemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268419 +MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 +MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch OMIM:614098 keppen-lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keppen-lubinsky syndrome -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keppen-lubinsky syndrome -MONDO:0013572 Keppen-Lubinsky syndrome skos:closeMatch Orphanet:435628 Keppen-Lubinsky syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614098 -MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch OMIM:614099 cranioectodermal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranioectodermal dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013573 cranioectodermal dysplasia 3 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614099 -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis laxa, neonatal, with marfanoid phenotype MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutis laxa, neonatal, with marfanoid phenotype -MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614100 +MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch OMIM:614100 cutis laxa, neonatal, with marfanoid phenotype semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutis laxa, neonatal, with marfanoid phenotype MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432335 -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective igg subclass deficiency -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614102 +MONDO:0013574 cutis laxa - Marfanoid syndrome skos:closeMatch Orphanet:171719 Cutis laxa-Marfanoid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614100 MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279824 +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614102 +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym selective igg subclass deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kappa chain deficiency -MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin kappa light chain deficiency MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoglobulin kappa light chain deficiency +MONDO:0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency skos:closeMatch OMIM:614102 immunoglobulin kappa light chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin kappa light chain deficiency MONDO:0013577 Lipedema skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch OMIM:614104 intellectual developmental disorder, autosomal dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch Orphanet:464306 DYRK1A-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614104 MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:exactMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdh deficiency -MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614105 +MONDO:0013578 DYRK1A-related intellectual disability syndrome skos:closeMatch NCIT:C179708 Mental Retardation, Autosomal Dominant 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279840 -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch Orphanet:289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614105 +MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency skos:closeMatch OMIM:614105 methylmalonate semialdehyde dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mmsdh deficiency +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase e1-beta deficiency MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch OMIM:614111 pyruvate dehydrogenase e1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency -MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279841 -MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614113 +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:765 Pyruvate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614111 +MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency skos:closeMatch Orphanet:255138 Pyruvate dehydrogenase E1-beta deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate dehydrogenase e1-beta deficiency MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch OMIM:614113 intellectual developmental disorder, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013581 intellectual disability, autosomal dominant 2 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614113 MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614114 +MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch NCIT:C168989 Mosaic Variegated Aneuploidy Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013582 mosaic variegated aneuploidy syndrome 2 skos:closeMatch OMIM:614114 mosaic variegated aneuploidy syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical malformations, occipital -MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614115 MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch OMIM:614115 cortical malformations, occipital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical malformations, occipital +MONDO:0013583 occipital pachygyria and polymicrogyria skos:closeMatch Orphanet:280640 Occipital pachygyria and polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614115 MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch Orphanet:456318 Hereditary sensory neuropathy-deafness-dementia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614116 -MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with hearing loss and dementia MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013584 hereditary sensory neuropathy-deafness-dementia syndrome skos:closeMatch OMIM:614116 neuropathy, hereditary sensory, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory, with hearing loss and dementia MONDO:0013585 hydrolethalus syndrome 2 skos:closeMatch Orphanet:2189 Hydrolethalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614120 -MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3279904 +MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency skos:closeMatch Orphanet:2364 Glycogen storage disease due to lactate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614128 MONDO:0013588 Perrault syndrome 3 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614129 MONDO:0013588 Perrault syndrome 3 skos:closeMatch OMIM:614129 perrault syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, autosomal recessive type 81, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614131 MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch OMIM:614131 focal segmental glomerulosclerosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 +MONDO:0013589 focal segmental glomerulosclerosis 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614131 MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 +MONDO:0013590 Stickler syndrome, type 4 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614134 MONDO:0013591 epiphyseal dysplasia, multiple, 6 skos:closeMatch Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614135 -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch NCIT:C112213 Onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label onychodystrophy MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anonychia-onycholysis, isolated MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail disorder, nonsyndromic congenital, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym onychodystrophy -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch OMIM:614149 nail disorder, nonsyndromic congenital, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nail dysplasia MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:79143 Isolated congenital anonychia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 -MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch NCIT:C112213 Onychodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label onychodystrophy -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement -MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013592 nonsyndromic congenital nail disorder 9 skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614149 MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch OMIM:614152 deafness, autosomal dominant 64 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 64 semapv:RegularExpressionReplacement MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614152 -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NCIT:C148316 Spinocerebellar Ataxia Type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614153 MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch Orphanet:276198 Spinocerebellar ataxia type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement -MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch OMIM:614153 spinocerebellar ataxia 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013594 spinocerebellar ataxia type 36 skos:closeMatch NCIT:C148316 Spinocerebellar Ataxia Type 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 36 semapv:RegularExpressionReplacement MONDO:0013595 hyperbiliverdinemia skos:closeMatch Orphanet:276405 Hyperbiliverdinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614156 -MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013597 platelet-type bleeding disorder 14 skos:closeMatch OMIM:614158 bleeding disorder, platelet-type, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thromboxane synthetase deficiency -MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle hypertrophy MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscle hypertrophy +MONDO:0013598 myostatin-related muscle hypertrophy skos:closeMatch OMIM:614160 muscle hypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscle hypertrophy MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:614162 immunodeficiency 31c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch OMIM:613956 candidiasis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal dominant -MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delayed sleep phase disorder, susceptibility to +MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome skos:closeMatch Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614162 MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label delayed sleep phase disorder, susceptibility to MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement +MONDO:0013600 insomnia skos:closeMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym delayed sleep phase disorder, susceptibility to MONDO:0013600 insomnia skos:narrowMatch ICD10CM:G47.09 Other insomnia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym insomnia semapv:RegularExpressionReplacement -MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione peroxidase deficiency MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glutathione peroxidase deficiency +MONDO:0013601 gluthathione peroxidase deficiency skos:closeMatch OMIM:614164 glutathione peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutathione peroxidase deficiency MONDO:0013602 paragangliomas 5 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614165 MONDO:0013605 brittle cornea syndrome 2 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614170 -MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 +MONDO:0013606 Hermansky-Pudlak syndrome 9 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614171 +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch NCIT:C126349 GATA2 Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gata2 deficiency MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch Orphanet:228423 Monocytopenia with susceptibility to infections semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614172 +MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gata2 deficiency -MONDO:0013607 monocytopenia with susceptibility to infections skos:closeMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013608 Joubert syndrome 13 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614173 MONDO:0013609 Meckel syndrome, type 10 skos:closeMatch OMIM:614175 meckel syndrome, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013610 retinitis pigmentosa 61 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614180 @@ -23906,40 +23912,40 @@ MONDO:0013613 Leber congenital amaurosis 16 skos:closeMatch Orphanet:65 Leber co MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch Orphanet:293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614187 MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertelorism, preauricular sinus, punctal pits, and deafness MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome skos:closeMatch OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism, preauricular sinus, punctal pits, and deafness -MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis-dental anomalies MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614188 +MONDO:0013615 craniosynostosis and dental anomalies skos:closeMatch Orphanet:284149 Craniosynostosis-dental anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniosynostosis-dental anomalies MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch OMIM:614190 pigmented nodular adrenocortical disease, primary, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad3 MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 MONDO:0013619 nephrotic syndrome, type 6 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614196 -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, acetazolamide-responsive +MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch OMIM:614198 myasthenic syndrome, congenital, 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 MONDO:0013620 congenital myasthenic syndrome 16 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614198 +MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to integrin alpha2-beta1 deficiency -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch OMIM:614200 bleeding disorder, platelet-type, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 MONDO:0013622 platelet-type bleeding disorder 9 skos:closeMatch Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614200 -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to glycoprotein vi deficiency -MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gp type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycoprotein type 6 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch OMIM:614201 bleeding disorder, platelet-type, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:73271 Bleeding diathesis due to a collagen receptor defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614201 +MONDO:0013623 platelet-type bleeding disorder 11 skos:closeMatch Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding diathesis due to glycoprotein vi deficiency MONDO:0013624 Rafiq syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614202 MONDO:0013625 Parkinson disease 17 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614203 +MONDO:0013626 psoriasis 14, pustular skos:closeMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pustular psoriasis MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:404546 DITRA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 -MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label generalized pustular psoriasis -MONDO:0013626 psoriasis 14, pustular skos:closeMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized pustular psoriasis +MONDO:0013626 psoriasis 14, pustular skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614204 MONDO:0013627 3M syndrome 3 skos:closeMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614205 -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614207 +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 skos:closeMatch OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs3 MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch OMIM:614208 intellectual developmental disorder, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 MONDO:0013630 Meckel syndrome, type 9 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614209 @@ -23949,102 +23955,102 @@ MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 skos:closeMatch OM MONDO:0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:closeMatch Orphanet:263524 Acute necrotizing encephalopathy of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614212 MONDO:0013634 neuropathy, hereditary sensory, type 2C skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614213 MONDO:0013635 Adams-Oliver syndrome 2 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614219 -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 -MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch OMIM:614220 biliary cirrhosis, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013636 primary biliary cholangitis 4 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614220 MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label biliary cirrhosis, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch OMIM:614221 biliary cirrhosis, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biliary cirrhosis, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013637 primary biliary cholangitis 5 skos:closeMatch Orphanet:186 Primary biliary cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614221 -MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614222 MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch OMIM:614222 warburg micro syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013638 Warburg micro syndrome 3 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614222 MONDO:0013639 narcolepsy 6, susceptibility to skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614223 +MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614224 MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal arterial macroaneurysm with supravalvular pulmonic stenosis MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal arterial macroaneurysm with supravalvular pulmonic stenosis -MONDO:0013640 familial retinal arterial macroaneurysm skos:closeMatch Orphanet:284247 Familial retinal arterial macroaneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614224 +MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614225 MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013641 Warburg micro syndrome 2 skos:closeMatch OMIM:614225 warburg micro syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013642 holoprosencephaly 11 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614226 -MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013643 hyperuricemic nephropathy, familial juvenile type 3 skos:closeMatch OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperuricemic nephropathy, familial juvenile, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O skos:closeMatch Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614228 +MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614229 MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 skos:closeMatch Orphanet:284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614229 MONDO:0013646 chromosome 8q21.11 deletion syndrome skos:closeMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614230 MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fph +MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanosis universalis hereditaria +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch OMIM:614233 hyperpigmentation, familial progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperpigmentation, familial progressive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 +MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:280628 Familial progressive hyper- and hypopigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840392 MONDO:0013648 familial progressive hyperpigmentation skos:closeMatch Orphanet:79146 Familial progressive hyperpigmentation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614233 -MONDO:0013648 familial progressive hyperpigmentation skos:exactMatch OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanosis universalis hereditaria MONDO:0013649 hypotrichosis 9 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614237 MONDO:0013650 hypotrichosis 10 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614238 -MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt18 MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt18 MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 MONDO:0013652 narcolepsy 7 skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614250 MONDO:0013653 Parkinson disease 18, autosomal dominant, susceptibility to skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614251 -MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 -MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch OMIM:614252 aneurysm, intracranial berry, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614254 MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant -MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch NCIT:C133742 Mental Retardation, Autosomal Dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013655 intellectual disability, autosomal dominant 8 skos:closeMatch OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614255 -MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614256 +MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch NCIT:C133742 Mental Retardation, Autosomal Dominant 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch OMIM:614256 intellectual developmental disorder, autosomal dominant 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013657 intellectual disability, autosomal dominant 10 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614256 MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614257 MONDO:0013658 intellectual disability, autosomal dominant 11 skos:closeMatch OMIM:614257 chromosome 20q11-q12 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013659 microcephaly-capillary malformation syndrome skos:closeMatch Orphanet:294016 Microcephaly-capillary malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614261 -MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280314 MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614265 -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 -MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 +MONDO:0013661 combined malonic and methylmalonic acidemia skos:closeMatch Orphanet:289504 Combined malonic and methylmalonic acidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280314 MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barrett metaplasia MONDO:0013662 Barrett esophagus skos:closeMatch OMIM:614266 barrett esophagus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenocarcinoma of esophagus -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839840 +MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0279628 +MONDO:0013662 Barrett esophagus skos:closeMatch Orphanet:99976 Adenocarcinoma of the esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614266 MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male pseudohermaphroditism due to deficiency of testicular type 17,20-desmolase semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614279 +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch Orphanet:443087 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839840 +MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency skos:closeMatch OMIM:614279 46,xy sex reversal 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013665 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614280 -MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:250984 Autosomal recessive Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 -MONDO:0013668 tetrasomy 18p skos:closeMatch OMIM:614290 tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 18p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013666 Stickler syndrome, type 5 skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614284 MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614290 MONDO:0013668 tetrasomy 18p skos:closeMatch Orphanet:3307 Tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795868 +MONDO:0013668 tetrasomy 18p skos:closeMatch OMIM:614290 tetrasomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isochromosome type 18p syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 skos:closeMatch Orphanet:145 Hereditary breast and ovarian cancer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614291 MONDO:0013670 myopia, high, with cataract and vitreoretinal degeneration skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614292 -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, complete +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch OMIM:614293 hydatidiform mole, recurrent, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013671 hydatidiform mole, recurrent, 2 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614293 -MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram-like syndrome, autosomal dominant MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hearing loss, progressive, with optic atrophy and/or impaired glucose regulation -MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614296 MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280358 +MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wolfram-like syndrome, autosomal dominant MONDO:0013673 Wolfram-like syndrome skos:closeMatch OMIM:614296 wolfram-like syndrome, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wolfram-like syndrome, autosomal dominant -MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial membrane protein-associated neurodegeneration +MONDO:0013673 Wolfram-like syndrome skos:closeMatch Orphanet:411590 Wolfram-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614296 MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614298 -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614299 -MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013674 neurodegeneration with brain iron accumulation 4 skos:closeMatch Orphanet:289560 Mitochondrial membrane protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial membrane protein-associated neurodegeneration MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch OMIM:614299 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 skos:closeMatch Orphanet:401874 Multiple mitochondrial dysfunctions syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614299 +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614302 -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant skos:closeMatch OMIM:614302 emery-dreifuss muscular dystrophy 7, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 7, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus with cataract -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome -MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus, familial, with early-onset anterior polar cataract MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280392 MONDO:0013678 EDICT syndrome skos:closeMatch Orphanet:293936 EDICT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614303 +MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus, familial, with early-onset anterior polar cataract +MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome +MONDO:0013678 EDICT syndrome skos:closeMatch OMIM:614303 edict syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoconus with cataract MONDO:0013679 sclerosteosis 2 skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614305 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280428 MONDO:0013681 alpha-methylacyl-CoA racemase deficiency skos:closeMatch Orphanet:79095 Congenital bile acid synthesis defect type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614307 @@ -24058,80 +24064,80 @@ MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 skos:closeMatch Orphanet:284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614322 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263579 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304501 +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevoid hypermelanosis, linear and whorled +MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperpigmentation, progressive cribriform and zosteriform MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevoid hypermelanosis, linear and whorled -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614323 -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch OMIM:614323 nevoid hypermelanosis, linear and whorled semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevoid hypermelanosis, linear and whorled -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:79150 Linear and whorled nevoid hypermelanosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304501 -MONDO:0013688 linear and whorled nevoid hypermelanosis skos:closeMatch Orphanet:64755 Becker nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263579 MONDO:0013689 ovarian dysgenesis 3 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614324 +MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachydactyly with short stature and microcephaly MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch OMIM:614326 feingold syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label feingold syndrome type 2 semapv:RegularExpressionReplacement MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:391646 Feingold syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 -MONDO:0013691 Feingold syndrome type 2 skos:closeMatch Orphanet:1305 Feingold syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614326 -MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614327 MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch NCIT:C172639 BAP1 Tumor Predisposition Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bap1 tumor predisposition syndrome +MONDO:0013692 BAP1-related tumor predisposition syndrome skos:closeMatch Orphanet:289539 BAP1-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614327 MONDO:0013693 inflammatory skin and bowel disease, neonatal, 1 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614328 MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch OMIM:614329 intellectual developmental disorder, autosomal recessive 31 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013694 intellectual disability, autosomal recessive 31 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614329 MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614331 -MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614333 +MONDO:0013697 intellectual disability, autosomal recessive 29 skos:closeMatch OMIM:614333 intellectual developmental disorder, autosomal recessive 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013698 arthrogryposis, distal, type 1B skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614335 MONDO:0013699 Lynch syndrome 4 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614337 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268240 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, deficiency of +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pl deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase, congenital absence of pancreatic -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colipase, congenital absence of pancreatic MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, congenital absence of pancreatic -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipase and colipase, deficiency of -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic colipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NCIT:C129030 Pancreatic Lipase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic lipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic colipase deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pl deficiency -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268240 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic colipase deficiency MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309031 Pancreatic triacylglycerol lipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 -MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch Orphanet:309111 Combined pancreatic lipase-colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614338 -MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614340 +MONDO:0013700 pancreatic triacylglycerol lipase deficiency skos:closeMatch NCIT:C129030 Pancreatic Lipase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic lipase deficiency MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614340 MONDO:0013702 intellectual disability, autosomal recessive 27 skos:closeMatch OMIM:614340 intellectual developmental disorder, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt27 MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch OMIM:614341 intellectual developmental disorder, autosomal recessive 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013703 intellectual disability, autosomal recessive 33 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614341 MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614342 MONDO:0013704 intellectual disability, autosomal recessive 30 skos:closeMatch OMIM:614342 intellectual developmental disorder, autosomal recessive 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614343 MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch OMIM:614343 intellectual developmental disorder, autosomal recessive 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013705 intellectual disability, autosomal recessive 19 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614343 MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch OMIM:614344 intellectual developmental disorder, autosomal recessive 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614344 MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch OMIM:614345 intellectual developmental disorder, autosomal recessive 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614346 MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch OMIM:614346 intellectual developmental disorder, autosomal recessive 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch OMIM:614347 intellectual developmental disorder, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 MONDO:0013710 Lynch syndrome 5 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614350 MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch Orphanet:397744 Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614369 -MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy, myopathy, hoarseness, and hearing loss MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral neuropathy, myopathy, hoarseness, and hearing loss -MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 +MONDO:0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome skos:closeMatch OMIM:614369 peripheral neuropathy, myopathy, hoarseness, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peripheral neuropathy, myopathy, hoarseness, and hearing loss MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csf2rb deficiency MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pap due to csf2rb deficiency MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch OMIM:614370 surfactant metabolism dysfunction, pulmonary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 skos:closeMatch Orphanet:264675 Hereditary pulmonary alveolar proteinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614370 MONDO:0013713 dengue virus, susceptibility to skos:closeMatch Orphanet:99828 Dengue fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614371 -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue shock syndrome, susceptibility to -MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, susceptibility to MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, protection against +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue shock syndrome, susceptibility to MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue hemorrhagic fever, susceptibility to +MONDO:0013713 dengue virus, susceptibility to skos:closeMatch OMIM:614371 dengue virus, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dengue fever, susceptibility to +MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl deficiency MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lectin complement activation pathway, defect in, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl2 deficiency -MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbl deficiency MONDO:0013714 mannose-binding lectin deficiency skos:closeMatch OMIM:614372 mannose-binding lectin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mbp deficiency +MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch Orphanet:300605 Juvenile amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614373 MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013715 amyotrophic lateral sclerosis type 16 skos:closeMatch OMIM:614373 amyotrophic lateral sclerosis 16, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 16, juvenile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013716 aortic aneurysm, familial abdominal, 4 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614375 MONDO:0013717 asphyxiating thoracic dystrophy 5 skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614376 MONDO:0013718 nephronophthisis 13 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614377 @@ -24140,123 +24146,123 @@ MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 com MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4b deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013720 complement component 4b deficiency skos:closeMatch OMIM:614379 complement component 4b deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4b deficiency MONDO:0013720 complement component 4b deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614379 +MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym c4a deficiency -MONDO:0013721 complement component 4a deficiency skos:closeMatch OMIM:614380 complement component 4a deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement component type 4a deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013721 complement component 4a deficiency skos:closeMatch Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614380 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1859301 MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:85186 Endosteal sclerosis-cerebellar hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535353 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614381 +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia with endosteal sclerosis MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism skos:closeMatch OMIM:614381 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013723 bacteremia, susceptibility to, 1 skos:closeMatch OMIM:614382 bacteremia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bacteremia, resistance to MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 skos:closeMatch Orphanet:144 Lynch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614385 -MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614388 MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch OMIM:614388 encephalopathy due to defective mitochondrial and peroxisomal fission 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy due to defective mitochondrial and peroxisomal fission type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 skos:closeMatch Orphanet:330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614388 MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal loss, recurrent, susceptibility to +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abortion, spontaneous, recurrent MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym embryonic loss, recurrent -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miscarriage, recurrent -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stillbirth, recurrent MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rpl -MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abortion, spontaneous, recurrent -MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018133 -MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stillbirth, recurrent +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rprgl +MONDO:0013727 pregnancy loss, recurrent, susceptibility to, 1 skos:closeMatch OMIM:614389 pregnancy loss, recurrent, susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miscarriage, recurrent +MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, resistance to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018651 +MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:39812 Graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018133 MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 MONDO:0013730 graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 -MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, resistance to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant +MONDO:0013730 graft versus host disease skos:closeMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graft-versus-host disorder, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614399 -MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:614399 congenital myopathy 10a, severe variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset +MONDO:0013731 MEGF10-Related Myopathy skos:closeMatch OMIM:620249 congenital myopathy 10b, mild variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zaki-gleeson syndrome MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614407 MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome -MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch OMIM:614407 microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zaki-gleeson syndrome -MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome skos:closeMatch Orphanet:329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614407 MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch OMIM:614409 spastic paraplegia 46, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 46, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013737 hereditary spastic paraplegia 46 skos:closeMatch Orphanet:320391 Autosomal recessive spastic paraplegia type 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614409 -MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch OMIM:614414 deafness, autosomal recessive 96 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 96 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614414 MONDO:0013739 chilblain lupus 2 skos:closeMatch Orphanet:481662 Familial Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614415 +MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614416 MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym radiohumeral fusions with other skeletal and craniofacial anomalies MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiohumeral fusions with other skeletal and craniofacial anomalies -MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome skos:closeMatch Orphanet:293925 Lethal occipital encephalocele-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614416 MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch OMIM:614417 epilepsy, familial temporal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013741 familial temporal lobe epilepsy 5 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614417 +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:exactMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013742 familial mesial temporal lobe epilepsy with febrile seizures skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym febrile seizures, familial, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:300345 Autosomal systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 MONDO:0013743 autosomal systemic lupus erythematosus type 16 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614420 +MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 +MONDO:0013744 cataract 37 skos:closeMatch OMIM:614422 cataract 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013744 cataract 37 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 -MONDO:0013744 cataract 37 skos:closeMatch OMIM:614422 cataract 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, cerulean type, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013744 cataract 37 skos:closeMatch Orphanet:98992 Early-onset partial cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614422 -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 -MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 +MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:220497 Joubert syndrome with renal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 +MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 +MONDO:0013745 Joubert syndrome 14 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614424 MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 MONDO:0013747 atrioventricular septal defect 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614430 MONDO:0013750 atrial septal defect 8 skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614433 MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021076 MONDO:0013752 hypoplastic left heart syndrome 2 skos:closeMatch Orphanet:2248 Hypoplastic left heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614435 +MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837805 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, axonal, with vocal cord paresis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 -MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:99941 Autosomal dominant Charcot-Marie-Tooth disease type 2G semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837805 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P skos:closeMatch Orphanet:300319 Charcot-Marie-Tooth disease type 2P semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614436 MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:90349 Autosomal recessive cutis laxa type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 MONDO:0013754 cutis laxa, autosomal recessive, type 1B skos:closeMatch Orphanet:314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614437 -MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:293633 PYCR1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 +MONDO:0013755 PYCR1-related de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614438 +MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614441 MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive +MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614441 MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013757 congenital nongoitrous hypothryoidism 6 skos:closeMatch OMIM:614450 hypothyroidism, congenital, nongoitrous, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch OMIM:614455 charcot-marie-tooth disease, dominant intermediate e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate e semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E skos:closeMatch Orphanet:93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614455 -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement -MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma and renal cell carcinoma, susceptibility to MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:exactMatch OMIM:601800 skin/hair/eye pigmentation, variation in, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym melanoma, cutaneous malignant, susceptibility to, type 8 semapv:RegularExpressionReplacement MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch Orphanet:293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614456 -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic quadriplegia, and mental retardation +MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 skos:closeMatch OMIM:614456 melanoma, cutaneous malignant, susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanoma and renal cell carcinoma, susceptibility to MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isqmr +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch OMIM:614457 ichthyosis, spastic quadriplegia, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, spastic quadriplegia, and mental retardation MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome skos:closeMatch Orphanet:352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614457 MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thiamine metabolism dysfunction syndrome type 5 (episodic encephalopathy type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch Orphanet:293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614458 +MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency skos:closeMatch OMIM:614458 thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperglycinemia, lactic acidosis, and seizures -MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, lactic acidosis, and seizures MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyruvate dehydrogenase lipoic acid synthetase deficiency +MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch OMIM:614462 hyperglycinemia, lactic acidosis, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperglycinemia, lactic acidosis, and seizures MONDO:0013762 lipoic acid synthetase deficiency skos:closeMatch Orphanet:401859 Lipoic acid synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614462 MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:200990 acrocallosal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614464 -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:612285 joubert syndrome 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 9/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013763 Joubert syndrome 15 skos:closeMatch OMIM:614464 joubert syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 12/15, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 MONDO:0013764 Joubert syndrome 16 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614465 -MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plcg2-associated antibody deficiency and immune dysregulation MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614468 +MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch Orphanet:300359 PLCG2-associated antibody deficiency and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label plcg2-associated antibody deficiency and immune dysregulation MONDO:0013766 familial cold autoinflammatory syndrome 3 skos:closeMatch OMIM:614468 familial cold autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antibody deficiency and immune dysregulation, plcg2-associated MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 skos:closeMatch Orphanet:268114 RAS-associated autoimmune leukoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614470 MONDO:0013768 arterial calcification, generalized, of infancy, 2 skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614473 @@ -24265,55 +24271,55 @@ MONDO:0013770 atrial septal defect 9 skos:closeMatch Orphanet:1478 Interatrial c MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertriglyceridemia, transient infantile MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch OMIM:614480 hypertriglyceridemia, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertriglyceridemia, transient infantile MONDO:0013771 transient infantile hypertriglyceridemia and hepatosteatosis skos:closeMatch Orphanet:300293 Transient infantile hypertriglyceridemia and hepatosteatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614480 +MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, hearing loss, and neurodegeneration MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital cataracts, hearing loss, and neurodegeneration MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch Orphanet:300313 Congenital cataract-hearing loss-severe developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614482 -MONDO:0013772 congenital cataract-hearing loss-severe developmental delay syndrome skos:closeMatch OMIM:614482 congenital cataracts, hearing loss, and neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cataracts, hearing loss, and neurodegeneration MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 MONDO:0013773 porencephaly 2 skos:closeMatch Orphanet:99810 Familial porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:614485 trigonocephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic -MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614485 MONDO:0013774 trigonocephaly 2 skos:closeMatch OMIM:190440 trigonocephaly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis, metopic -MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to thrombomodulin defect +MONDO:0013774 trigonocephaly 2 skos:closeMatch Orphanet:3366 Non-syndromic metopic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614485 MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to thrombomodulin defect +MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch OMIM:614486 thrombophilia due to thrombomodulin defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to thrombomodulin defect MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614486 MONDO:0013775 thrombomodulin-related bleeding disorder skos:closeMatch Orphanet:436169 Thrombomodulin-related bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3280976 MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013776 spastic ataxia 5 skos:closeMatch Orphanet:313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614487 MONDO:0013776 spastic ataxia 5 skos:closeMatch OMIM:614487 spastic ataxia 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840390 -MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 +MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614491 +MONDO:0013777 pseudohypoaldosteronism type 2B skos:closeMatch Orphanet:88939 Pseudohypoaldosteronism type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840390 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1840391 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:88940 Pseudohypoaldosteronism type 2C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 MONDO:0013778 pseudohypoaldosteronism type 2C skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614492 -MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614493 MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch OMIM:614493 wiskott-aldrich syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wipf1 deficiency +MONDO:0013779 Wiskott-Aldrich syndrome 2 skos:closeMatch Orphanet:906 Wiskott-Aldrich syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614493 MONDO:0013780 retinitis pigmentosa 63 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614494 MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:300525 Pseudohypoaldosteronism type 2D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension -MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614495 -MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 +MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension +MONDO:0013781 pseudohypoaldosteronism type 2D skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 +MONDO:0013782 pseudohypoaldosteronism type 2E skos:closeMatch Orphanet:300530 Pseudohypoaldosteronism type 2E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614496 MONDO:0013783 microphthalmia, isolated, with coloboma 7 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614497 -MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rigidity and multifocal seizure syndrome, lethal neonatal MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rigidity and multifocal seizure syndrome, lethal neonatal MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614498 -MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 34, with variant lissencephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures skos:closeMatch OMIM:614498 rigidity and multifocal seizure syndrome, lethal neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rigidity and multifocal seizure syndrome, lethal neonatal MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt34 MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch NCIT:C153179 Mental Retardation, Autosomal Recessive 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal recessive type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch OMIM:614499 intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 34, with variant lissencephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 +MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 64 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013786 cone-rod dystrophy 16 skos:exactMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement -MONDO:0013786 cone-rod dystrophy 16 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614500 MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 MONDO:0013788 Usher syndrome type 3B skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614504 MONDO:0013789 DDOST-congenital disorder of glycosylation skos:closeMatch Orphanet:300536 DDOST-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614507 MONDO:0013790 mirror movements 2 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614508 -MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein s deficiency, autosomal recessive MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombophilia due to protein s deficiency, autosomal recessive +MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch OMIM:614514 thrombophilia due to protein s deficiency, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombophilia due to protein s deficiency, autosomal recessive MONDO:0013791 thrombophilia due to protein S deficiency, autosomal recessive skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614514 MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemorrhage, intracerebral, susceptibility to MONDO:0013792 intracerebral hemorrhage skos:closeMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemorrhage, intracerebral, susceptibility to @@ -24332,16 +24338,16 @@ MONDO:0013802 infantile cerebellar-retinal degeneration skos:closeMatch Orphanet MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch Orphanet:542310 Leukoencephalopathy with calcifications and cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614561 MONDO:0013803 leukoencephalopathy with calcifications and cysts skos:closeMatch OMIM:614561 leukoencephalopathy, brain calcifications, and cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym labrune syndrome -MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch OMIM:614563 intellectual developmental disorder, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614563 +MONDO:0013805 intellectual disability, autosomal dominant 13 skos:closeMatch OMIM:614563 intellectual developmental disorder, autosomal dominant 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous telangiectasia and cancer syndrome, familial MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cutaneous telangiectasia and cancer syndrome, familial MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch OMIM:614564 cutaneous telangiectasia and cancer syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectasia, cutaneous, and cancer syndrome, familial -MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614564 -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive -MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome skos:closeMatch Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613830 night blindness, congenital stationary, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:613216 night blindness, congenital stationary, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive +MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:257270 night blindness, congenital stationary, iia 1b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614565 MONDO:0013807 congenital stationary night blindness 1E skos:closeMatch OMIM:614565 night blindness, congenital stationary, iia 1e semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym csnb, complete, autosomal recessive MONDO:0013808 Maffucci syndrome skos:closeMatch Orphanet:163634 Maffucci syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614569 @@ -24356,42 +24362,42 @@ MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser- MONDO:0013812 Baraitser-winter syndrome 2 skos:closeMatch OMIM:614583 baraitser-winter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baraitser-winter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614588 MONDO:0013813 dystonia 21 skos:closeMatch Orphanet:306734 Primary dystonia, DYT21 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt21 type -MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphostatic verrucosis, susceptibility to -MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic nonfilarial elephantiasis, susceptibility to MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nonfilarial elephantiasis of lower legs, susceptibility to +MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endemic nonfilarial elephantiasis, susceptibility to +MONDO:0013814 podoconiosis, susceptibility to skos:closeMatch OMIM:614590 podoconiosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphostatic verrucosis, susceptibility to MONDO:0013815 FGFR2-related bent bone dysplasia skos:closeMatch Orphanet:313855 FGFR2-related bent bone dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 -MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614595 +MONDO:0013817 preeclampsia/eclampsia 5 skos:closeMatch OMIM:614595 preeclampsia/eclampsia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label preeclampsia/eclampsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614602 MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013818 trichohepatoenteric syndrome 2 skos:closeMatch OMIM:614602 trichohepatoenteric syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoenteric syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614607 -MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614608 +MONDO:0013819 intellectual disability, autosomal dominant 14 skos:closeMatch OMIM:614607 coffin-siris syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch OMIM:614608 coffin-siris syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch OMIM:614609 coffin-siris syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013820 intellectual disability, autosomal dominant 15 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614608 MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614609 +MONDO:0013821 intellectual disability, autosomal dominant 16 skos:closeMatch OMIM:614609 coffin-siris syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch Orphanet:280651 Acrodysostosis with multiple hormone resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement -MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614614 +MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B skos:closeMatch OMIM:614614 deafness, autosomal dominant 4b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 4b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013824 Joubert syndrome 17 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614615 MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013825 congenital diarrhea 6 skos:closeMatch OMIM:614616 diarrhea 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013825 congenital diarrhea 6 skos:closeMatch Orphanet:314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614616 MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch OMIM:614617 deafness, autosomal recessive 86 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 86 semapv:RegularExpressionReplacement MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614617 MONDO:0013827 hyperekplexia 3 skos:closeMatch Orphanet:3197 Hereditary hyperekplexia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614618 @@ -24403,305 +24409,305 @@ MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch OMIM:614650 coenzyme Q10 deficiency, primary, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness skos:closeMatch Orphanet:280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614650 -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch Orphanet:254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614651 +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome skos:closeMatch OMIM:614651 coenzyme Q10 deficiency, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013838 coenzyme Q10 deficiency, primary, 3 skos:closeMatch Orphanet:255249 Leigh syndrome with nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614652 -MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch Orphanet:314381 Hereditary sensory and autonomic neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614653 -MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 skos:closeMatch OMIM:614653 neuropathy, hereditary sensory and autonomic, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch OMIM:614654 coenzyme Q10 deficiency, primary, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome skos:closeMatch Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614654 MONDO:0013842 cortisone reductase deficiency 2 skos:closeMatch Orphanet:168588 Hyperandrogenism due to cortisone reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614662 MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency skos:closeMatch Orphanet:314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614665 -MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614669 +MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013845 auriculocondylar syndrome 2 skos:closeMatch OMIM:614669 auriculocondylar syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013846 peripartum cardiomyopathy, susceptibility to skos:closeMatch OMIM:614670 peripartum cardiomyopathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ppcm, susceptibility to MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch Orphanet:370079 Proximal 16p11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614671 MONDO:0013847 chromosome 16p11.2 duplication syndrome skos:closeMatch OMIM:614671 chromosome 16p11.2 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autism, susceptibility to, type 14b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614672 -MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch OMIM:614672 cardiomyopathy, dilated, 2b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013848 dilated cardiomyopathy 2B skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614672 MONDO:0013849 microcephaly 8, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614673 -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614675 -MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch OMIM:614675 bone marrow failure syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013851 autosomal dominant aplasia and myelodysplasia skos:closeMatch Orphanet:314399 Autosomal dominant aplasia and myelodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614675 MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013852 hypertrophic cardiomyopathy 21 skos:closeMatch OMIM:614676 cardiomyopathy, familial hypertrophic, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013853 pontocerebellar hypoplasia type 1B skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614678 +MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614679 MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 17, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614679 MONDO:0013854 primary ciliary dyskinesia 17 skos:closeMatch OMIM:614679 ciliary dyskinesia, primary, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013857 alar cleft, isolated skos:closeMatch Orphanet:141242 Paramedian nasal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614687 -MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontine tegmental cap dysplasia +MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch OMIM:614688 pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontine tegmental cap dysplasia MONDO:0013858 pontine tegmental cap dysplasia skos:closeMatch Orphanet:269229 Pontine tegmental cap dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614688 MONDO:0013859 cataract 38 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614691 MONDO:0013859 cataract 38 skos:closeMatch OMIM:614691 cataract 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, autosomal recessive congenital type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous nephropathy, susceptibility to +MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous nephropathy, susceptibility to MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch NCIT:C128108 Idiopathic Membranous Glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic membranous glomerulopathy MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614692 MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch Orphanet:97560 Primary membranous glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0086445 -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranous nephropathy, susceptibility to -MONDO:0013860 idiopathic membranous glomerulonephritis skos:closeMatch OMIM:614692 membranous nephropathy, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym membranous nephropathy, susceptibility to MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch NCIT:C176809 Immunodeficiency, Common Variable, 8, with Autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch Orphanet:445018 Combined immunodeficiency due to LRBA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 +MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch OMIM:614700 immunodeficiency, common variable, 8, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch NCIT:C176809 Immunodeficiency, Common Variable, 8, with Autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 8, with autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013864 Cornelia de Lange syndrome 4 skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614701 -MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch OMIM:614702 combined oxidative phosphorylation deficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency skos:closeMatch Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614702 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis type 11 semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln11 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal ceroid lipofuscinosis type 11 semapv:RegularExpressionReplacement +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuronal ceroid lipofuscinosis type 11 MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch OMIM:614706 ceroid lipofuscinosis, neuronal, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:exactMatch NCIT:C188214 Neuronal Ceroid Lipofuscinosis Type 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuronal ceroid lipofuscinosis type 11 -MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:314629 CLN11 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013866 neuronal ceroid lipofuscinosis 11 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614706 MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 -MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch NCIT:C183529 Brown-Vialetto-Van Laere Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch OMIM:614707 brown-vialetto-van laere syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brown-vialetto-van laere syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013867 brown-Vialetto-van Laere syndrome 2 skos:closeMatch Orphanet:572550 RFVT3-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614707 MONDO:0013868 porokeratosis 7, multiple types skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614714 +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, dha -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, dha MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, type 2,8-dihydroxyadenine semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614723 -MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch Orphanet:976 Adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268120 +MONDO:0013869 adenine phosphoribosyltransferase deficiency skos:closeMatch OMIM:614723 adenine phosphoribosyltransferase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, dha MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch Orphanet:314667 TMEM165-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614727 MONDO:0013870 TMEM165-congenital disorder of glycosylation skos:closeMatch OMIM:614727 congenital disorder of glycosylation, iia iik semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iik MONDO:0013871 Seckel syndrome 6 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614728 MONDO:0013872 prostate cancer, hereditary, 2 skos:closeMatch Orphanet:1331 Familial prostate cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614731 +MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846009 MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614732 MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies -MONDO:0013873 IMAGe syndrome skos:closeMatch Orphanet:85173 IMAGe syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846009 MONDO:0013873 IMAGe syndrome skos:closeMatch OMIM:614732 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies +MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614736 -MONDO:0013874 glucocorticoid deficiency 4 skos:closeMatch OMIM:614736 glucocorticoid deficiency 4 with or without mineralocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid deficiency type 4 with or without mineralocorticoid deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch Orphanet:352328 MEGDEL syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614739 MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome skos:closeMatch OMIM:614739 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome MONDO:0013877 mitochondrial pyruvate carrier deficiency skos:closeMatch Orphanet:447784 Mitochondrial pyruvate carrier deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614741 -MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch OMIM:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614742 MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch Orphanet:88 Idiopathic aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614743 MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 skos:closeMatch OMIM:614743 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013880 facial paresis, hereditary congenital, 3 skos:closeMatch Orphanet:306530 Congenital hereditary facial paralysis-variable hearing loss syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614744 -MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nephrotic syndrome, and epidermolysis bullosa, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch Orphanet:306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614748 +MONDO:0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:closeMatch OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial lung disorder, nephrotic syndrome, and epidermolysis bullosa, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs2 MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614749 -MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 skos:closeMatch OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614750 -MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614751 +MONDO:0013883 congenital myasthenic syndrome 13 skos:closeMatch OMIM:614750 myasthenic syndrome, congenital, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch OMIM:614751 neuronopathy, distal hereditary motor, iia 5b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 5b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013884 neuronopathy, distal hereditary motor, type 5B skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614751 MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malan syndrome MONDO:0013885 Malan overgrowth syndrome skos:closeMatch OMIM:614753 malan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym malan syndrome MONDO:0013885 Malan overgrowth syndrome skos:closeMatch Orphanet:420179 Malan overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 +MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-progressive cerebellar ataxia with intellectual disability MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614756 MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch OMIM:614756 cerebellar dysfunction with variable cognitive and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, nonprogressive, with mental retardation -MONDO:0013886 nonprogressive cerebellar atxia with intellectual disability skos:closeMatch Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-progressive cerebellar ataxia with intellectual disability MONDO:0013887 heterotaxy, visceral, 6, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614779 MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, optic nerve atrophy, and pelger-huet anomaly -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soph MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, optic nerve atrophy, and pelger-huet anomaly +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch OMIM:614800 short stature, optic nerve atrophy, and pelger-huet anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soph MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature-optic atrophy-pelger-huët anomaly syndrome MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome skos:closeMatch Orphanet:391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614800 -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch OMIM:614807 myopathy, centronuclear, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch OMIM:614807 myopathy, centronuclear, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch OMIM:614807 myopathy, centronuclear, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch Orphanet:319160 Congenital myopathy with internal nuclei and atypical cores semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 MONDO:0013891 amyotrophic lateral sclerosis type 18 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614808 -MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329918 C3 glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:329931 C3 glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 +MONDO:0013892 C3 glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614809 MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, onychodysplasia, facial dysmorphism, and hypotrichosis +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614813 MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, onychodysplasia, facial dysmorphism, and hypotrichosis -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch NCIT:C25255 Soft semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft -MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch Orphanet:314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614813 +MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome skos:closeMatch OMIM:614813 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft MONDO:0013895 Adams-Oliver syndrome 3 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614814 MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 MONDO:0013896 Joubert syndrome 18 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614815 MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch OMIM:614816 loeys-dietz syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations MONDO:0013897 Loeys-Dietz syndrome 4 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614816 -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial nephritis, karyomegalic -MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial nephritis, karyomegalic -MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kin MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kin +MONDO:0013898 karyomegalic interstitial nephritis skos:exactMatch OMIM:601720 KIN semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kin +MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interstitial nephritis, karyomegalic +MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch OMIM:614817 interstitial nephritis, karyomegalic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interstitial nephritis, karyomegalic MONDO:0013898 karyomegalic interstitial nephritis skos:closeMatch Orphanet:401996 Karyomegalic interstitial nephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614817 MONDO:0013899 Weill-Marchesani syndrome 3 skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614819 MONDO:0013900 alternating hemiplegia of childhood 2 skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614820 -MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614822 MONDO:0013901 spermatogenic failure 10 skos:closeMatch OMIM:614822 spermatogenic failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure with defective sperm annulus +MONDO:0013901 spermatogenic failure 10 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614822 +MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve stenosis -MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve -MONDO:0013902 aortic valve disease 2 skos:closeMatch NCIT:C50462 Aortic Valve Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve stenosis MONDO:0013902 aortic valve disease 2 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614823 MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nystagmus type 7, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch OMIM:614826 nystagmus 7, congenital, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nystagmus type 7, congenital, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614830 MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch OMIM:614830 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gtdc2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency +MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614830 MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614831 -MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia4 +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 skos:closeMatch OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614832 MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia4 -MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with seizures +MONDO:0013906 amelogenesis imperfecta hypomaturation type 2A4 skos:closeMatch OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia4 MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, short stature, and polymicrogyria with or without seizures MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and polymicrogyria with or without seizures +MONDO:0013907 bilateral generalized polymicrogyria skos:closeMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with seizures MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614834 MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym human herpesvirus type 8, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013909 human herpesvirus 8, susceptibility to skos:closeMatch OMIM:614836 human herpesvirus 8, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hhv-8, susceptibility to -MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 +MONDO:0013910 hypogonadotropic hypogonadism 8 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614837 MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 MONDO:0013911 hypogonadotropic hypogonadism 9 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614838 MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614839 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614840 -MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadotropin deficiency, familial idiopathic MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614841 +MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia skos:closeMatch OMIM:614841 hypogonadotropic hypogonadism 12 with or without anosmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadotropin deficiency, familial idiopathic MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614842 -MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614844 MONDO:0013916 nephronophthisis 14 skos:closeMatch OMIM:614844 nephronophthisis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013916 nephronophthisis 14 skos:closeMatch Orphanet:2318 Joubert syndrome with oculorenal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614844 MONDO:0013917 nephronophthisis 15 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614845 +MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal tetrasomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 MONDO:0013918 distal tetrasomy 15q skos:closeMatch OMIM:614846 tetrasomy 15q26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym levy-shanske syndrome MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314585 15q overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 -MONDO:0013918 distal tetrasomy 15q skos:closeMatch Orphanet:314588 Distal tetrasomy 15q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614846 +MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614849 MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch OMIM:614849 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614849 MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614850 MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 skos:closeMatch OMIM:614850 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:319675 Microcephalic primordial dwarfism, Dauber type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 MONDO:0013922 Seckel syndrome 7 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614851 MONDO:0013923 microcephaly 9, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614852 -MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 -MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 +MONDO:0013924 osteogenesis imperfecta type 13 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614856 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch NCIT:C183526 Methylmalonic Aciduria and Homocystinuria, cblJ Type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label methylmalonic aciduria and homocystinuria, cblj type +MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ skos:closeMatch Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614857 MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614858 +MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614859 -MONDO:0013927 peroxisome biogenesis disorder 3A (Zellweger) skos:closeMatch OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614860 MONDO:0013928 dystonia 23 skos:closeMatch Orphanet:420492 Adult-onset cervical dystonia, DYT23 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult-onset cervical dystonia, dyt23 type -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614861 +MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement +MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 skos:closeMatch OMIM:614861 deafness, autosomal recessive 98 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 98 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group c -MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013930 peroxisome biogenesis disorder 4A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614862 MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 -MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013931 peroxisome biogenesis disorder 4B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614863 MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group f +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch OMIM:614866 peroxisome biogenesis disorder 5a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 +MONDO:0013932 peroxisome biogenesis disorder 5A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614866 MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 MONDO:0013933 peroxisome biogenesis disorder 5B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614867 -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614868 -MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations +MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch OMIM:614868 t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations +MONDO:0013934 combined immunodeficiency due to STK4 deficiency skos:closeMatch Orphanet:314689 Combined immunodeficiency due to STK4 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614868 MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 MONDO:0013935 Usher syndrome type 1J skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614869 -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 -MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch OMIM:614870 peroxisome biogenesis disorder 6a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group b -MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 +MONDO:0013936 peroxisome biogenesis disorder 6A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614870 MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 +MONDO:0013937 peroxisome biogenesis disorder 6B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614871 +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group a +MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614872 -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013938 peroxisome biogenesis disorder 7A (Zellweger) skos:closeMatch OMIM:614872 peroxisome biogenesis disorder 7a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group a -MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013939 peroxisome biogenesis disorder 7B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614873 +MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614874 MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch OMIM:614874 ciliary dyskinesia, primary, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013940 primary ciliary dyskinesia 18 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614874 -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondrodysplasia with type 2-hydroxyglutaric aciduria semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloenchondromatosis with d-2-hydroxyglutaric aciduria -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 -MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614875 +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloenchondromatosis with d-2-hydroxyglutaric aciduria +MONDO:0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria skos:closeMatch OMIM:614875 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metaphyseal enchondrodysplasia with type 2-hydroxyglutaric aciduria semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group d MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch OMIM:614876 peroxisome biogenesis disorder 8a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 -MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 +MONDO:0013942 peroxisome biogenesis disorder 8A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614876 MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 -MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated +MONDO:0013943 peroxisome biogenesis disorder 8B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614877 MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch Orphanet:324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614878 -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, adult, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch OMIM:614878 autoinflammation, antibody deficiency, and immune dysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group r MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym refsum disorder, adult, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch OMIM:614879 peroxisome biogenesis disorder 9b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, pex7-related, atypical -MONDO:0013945 peroxisome biogenesis disorder 9B skos:closeMatch Orphanet:773 Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614879 MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 MONDO:0013946 hypogonadotropic hypogonadism 15 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614880 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 +MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch OMIM:614881 spinal muscular atrophy, distal, autosomal recessive, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, distal, autosomal recessive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614882 MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013948 peroxisome biogenesis disorder 10A (Zellweger) skos:closeMatch OMIM:614882 peroxisome biogenesis disorder 10a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group g -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 -MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group h -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 -MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch OMIM:614883 peroxisome biogenesis disorder 11a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 +MONDO:0013949 peroxisome biogenesis disorder 11A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614883 MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgj -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 +MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 +MONDO:0013950 peroxisome biogenesis disorder 11B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614885 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cg14 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 +MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cgj MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614886 MONDO:0013951 peroxisome biogenesis disorder 12A (Zellweger) skos:closeMatch OMIM:614886 peroxisome biogenesis disorder 12a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisome biogenesis disorder, complementation group j MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614887 @@ -24709,24 +24715,24 @@ MONDO:0013952 peroxisome biogenesis disorder 13A (Zellweger) skos:closeMatch OMI MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 MONDO:0013953 immunodeficiency 28 skos:closeMatch Orphanet:319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614889 MONDO:0013953 immunodeficiency 28 skos:closeMatch OMIM:614889 immunodeficiency 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifngr2 deficiency -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch OMIM:614890 immunodeficiency 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12b deficiency +MONDO:0013954 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency skos:closeMatch Orphanet:319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614890 +MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12rb1 deficiency MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch OMIM:614891 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il12rb1 deficiency MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch Orphanet:319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal dominant MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stat1 deficiency, autosomal dominant +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch OMIM:614892 immunodeficiency 31a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 31a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency skos:closeMatch Orphanet:319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614892 MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irf8 deficiency, autosomal dominant MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd11c-positive/cd1c-positive dendritic cell deficiency, autosomal dominant +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym irf8 deficiency, autosomal dominant +MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch OMIM:614893 immunodeficiency 32a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch Orphanet:319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 MONDO:0013959 Charcot-Marie-Tooth disease type 4F skos:closeMatch Orphanet:99952 Charcot-Marie-Tooth disease type 4F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614895 MONDO:0013960 sinoatrial node dysfunction and deafness skos:closeMatch Orphanet:324321 Sinoatrial node dysfunction and deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614896 @@ -24734,132 +24740,132 @@ MONDO:0013961 hypogonadotropic hypogonadism 16 with or without anosmia skos:clos MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch Orphanet:319199 Autosomal recessive spastic paraplegia type 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614898 MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013962 hereditary spastic paraplegia 53 skos:closeMatch OMIM:614898 spastic paraplegia 53, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 53, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement -MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614899 +MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 skos:closeMatch OMIM:614899 deafness, autosomal recessive 93 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 93 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013964 Diamond-Blackfan anemia 11 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614900 MONDO:0013965 lethal congenital contracture syndrome 4 skos:closeMatch Orphanet:137783 Lethal congenital contracture syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614915 -MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614916 MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch OMIM:614916 ventricular tachycardia, catecholaminergic polymorphic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 +MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614916 MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg it -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 +MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglucomutase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614921 MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgm1 deficiency +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752015 MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycogen storage disorder type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg it MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phosphoglucomutase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2752015 -MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch Orphanet:319646 PGM1-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614921 +MONDO:0013968 PGM1-congenital disorder of glycosylation skos:closeMatch OMIM:614921 congenital disorder of glycosylation, iia it semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gsd type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephaloneuromyopathy, infantile, due to mitochondrial translation defect -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch Orphanet:324535 Combined oxidative phosphorylation defect type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614922 +MONDO:0013969 combined oxidative phosphorylation defect type 11 skos:closeMatch OMIM:614922 combined oxidative phosphorylation deficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bckdk deficiency MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch Orphanet:308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614923 -MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency skos:closeMatch OMIM:614923 branched-chain keto acid dehydrogenase kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bckdk deficiency -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614924 MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with thalamus and brainstem involvement and high lactate +MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch OMIM:614924 combined oxidative phosphorylation deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome skos:closeMatch Orphanet:314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614924 MONDO:0013972 Perrault syndrome 2 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614926 MONDO:0013973 ectodermal dysplasia 5, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614927 MONDO:0013974 ectodermal dysplasia 6, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614928 MONDO:0013975 ectodermal dysplasia 7, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614929 MONDO:0013976 ectodermal dysplasia 9, hair/nail type skos:closeMatch Orphanet:69084 Pure hair and nail ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614931 +MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614932 MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch OMIM:614932 combined oxidative phosphorylation deficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013977 combined oxidative phosphorylation defect type 13 skos:closeMatch Orphanet:319514 Combined oxidative phosphorylation defect type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614932 MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614934 -MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 19, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013979 primary ciliary dyskinesia 19 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614935 MONDO:0013980 palmoplantar keratoderma, punctate type ib skos:closeMatch Orphanet:79501 Punctate palmoplantar keratoderma type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614936 MONDO:0013981 myoclonus, familial skos:exactMatch OMIM:614937 myoclonus, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus, familial cortical +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:129490 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant -MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic, autosomal dominant +MONDO:0013982 ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614940 MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 -MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, anhidrotic +MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0013983 ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614941 MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614944 MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B skos:closeMatch OMIM:614944 deafness, autosomal recessive 84b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 84b semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement -MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614945 +MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B skos:closeMatch OMIM:614945 deafness, autosomal recessive 18b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 18b semapv:RegularExpressionReplacement MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614946 MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch OMIM:614946 combined oxidative phosphorylation deficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0013986 combined oxidative phosphorylation defect type 14 skos:closeMatch Orphanet:319519 Combined oxidative phosphorylation defect type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614946 +MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch Orphanet:319524 Combined oxidative phosphorylation defect type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614947 -MONDO:0013987 combined oxidative phosphorylation defect type 15 skos:closeMatch OMIM:614947 combined oxidative phosphorylation deficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013988 congenital heart defects, multiple types, 3 skos:closeMatch OMIM:614954 congenital heart defects, multiple types, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:exactMatch NCIT:C188141 Developmental and Epileptic Encephalopathy 14 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013989 developmental and epileptic encephalopathy, 14 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614959 MONDO:0013990 pontocerebellar hypoplasia type 8 skos:closeMatch Orphanet:324569 Pontocerebellar hypoplasia type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614961 +MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin deficiency or dysfunction MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch Orphanet:66628 Obesity due to congenital leptin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614962 MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin deficiency or dysfunction -MONDO:0013991 obesity due to congenital leptin deficiency skos:closeMatch OMIM:614962 leptin deficiency or dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin deficiency or dysfunction -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin receptor deficiency -MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch Orphanet:179494 Obesity due to leptin receptor gene deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614963 MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch NCIT:C120386 Leptin Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency +MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leptin receptor deficiency +MONDO:0013992 obesity due to leptin receptor gene deficiency skos:closeMatch OMIM:614963 leptin receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leptin receptor deficiency MONDO:0013993 pontocerebellar hypoplasia type 7 skos:closeMatch Orphanet:284339 Pontocerebellar hypoplasia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614969 -MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 +MONDO:0013994 Joubert syndrome 20 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614970 MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614972 -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brauer-setleis syndrome -MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 +MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch Orphanet:398173 Focal facial dermal dysplasia type II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614973 +MONDO:0013996 focal facial dermal dysplasia type II skos:closeMatch OMIM:614973 focal facial dermal dysplasia 2, brauer-setleis iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brauer-setleis syndrome MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398189 Focal facial dermal dysplasia type IV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 MONDO:0013997 focal facial dermal dysplasia type IV skos:closeMatch Orphanet:398166 Focal facial dermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614974 +MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614976 MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch OMIM:614976 carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0013998 MEGF8-related Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614976 -MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenomegaly, cytopenia, and vision loss MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614979 +MONDO:0013999 optic nerve edema-splenomegaly syndrome skos:closeMatch OMIM:614979 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym splenomegaly, cytopenia, and vision loss MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 MONDO:0014001 Usher syndrome type 1K skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614990 +MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615005 MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, nocturnal frontal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch OMIM:615005 epilepsy, nocturnal frontal lobe, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, nocturnal frontal lobe, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615005 MONDO:0014003 developmental and epileptic encephalopathy, 15 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615006 MONDO:0014004 basal ganglia calcification, idiopathic, 4 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615007 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:357008 Hemolytic uremic syndrome with DGKE deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:544472 Atypical hemolytic uremic syndrome with complement gene abnormality semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ahus, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch OMIM:615008 nephrotic syndrome, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic uremic syndrome, atypical, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 +MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615008 MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615009 MONDO:0014006 Schuurs-Hoeijmakers syndrome skos:closeMatch Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pacs1-related syndrome MONDO:0014007 Aicardi-Goutieres syndrome 6 skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615010 MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615022 -MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615023 -MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014009 autosomal recessive congenital ichthyosis 7 skos:closeMatch OMIM:615022 ichthyosis, congenital, autosomal recessive 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch OMIM:615023 ichthyosis, congenital, autosomal recessive 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014010 autosomal recessive congenital ichthyosis 9 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615023 MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch OMIM:615024 ichthyosis, congenital, autosomal recessive 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyosis, congenital, autosomal recessive type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014011 autosomal recessive congenital ichthyosis 10 skos:closeMatch Orphanet:79394 Congenital non-bullous ichthyosiform erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615024 @@ -24867,46 +24873,46 @@ MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q skos:closeMatch Orphane MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive skos:closeMatch Orphanet:412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615028 MONDO:0014015 hereditary spastic paraplegia 56 skos:closeMatch Orphanet:320411 Autosomal recessive spastic paraplegia type 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615030 MONDO:0014016 hereditary spastic paraplegia 49 skos:closeMatch Orphanet:320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615031 -MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch OMIM:615033 spastic paraplegia 54, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 54, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014018 hereditary spastic paraplegia 54 skos:closeMatch Orphanet:320380 Autosomal recessive spastic paraplegia type 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615033 -MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranio-cervical dystonia with laryngeal and upper-limb involvement MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615034 -MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014019 dystonia 24 skos:closeMatch Orphanet:420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranio-cervical dystonia with laryngeal and upper-limb involvement MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch OMIM:615035 spastic paraplegia 55, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 55, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014020 hereditary spastic paraplegia 55 skos:closeMatch Orphanet:320375 Autosomal recessive spastic paraplegia type 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615035 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch OMIM:615040 episodic pain syndrome, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 +MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615041 MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 skos:closeMatch OMIM:615041 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, tmem5-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch OMIM:615042 congenital disorder of glycosylation, iia iu semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iu MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy skos:closeMatch Orphanet:329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615042 -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch Orphanet:320370 Autosomal recessive spastic paraplegia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615043 +MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014024 hereditary spastic paraplegia 43 skos:closeMatch OMIM:615043 spastic paraplegia 43, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 43, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615048 MONDO:0014025 lower motor neuron syndrome with late-adult onset skos:closeMatch Orphanet:276435 Lower motor neuron syndrome with late-adult onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, jokela type MONDO:0014026 congenital stationary night blindness 1F skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615058 MONDO:0014027 hypotrichosis 11 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615059 -MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:329457 Distal arthrogryposis type 5D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 +MONDO:0014028 distal arthrogryposis type 5D skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615065 MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 MONDO:0014029 osteogenesis imperfecta type 14 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615066 +MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 20, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch OMIM:615067 ciliary dyskinesia, primary, 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014030 primary ciliary dyskinesia 20 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615067 -MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615071 MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch OMIM:615071 alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, intellectual disability, and primordial dwarfism +MONDO:0014031 microcephalic primordial dwarfism, Alazami type skos:closeMatch Orphanet:319671 Alazami syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615071 MONDO:0014032 brachydactyly type A1C skos:closeMatch Orphanet:93388 Brachydactyly type A1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615072 MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant focal dystonia, dyt25 type MONDO:0014033 dystonia 25 skos:closeMatch Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615073 MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch Orphanet:363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615074 MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome skos:closeMatch OMIM:615074 gand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with spastic diplegia and visual defects MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:closeMatch Orphanet:404473 Severe intellectual disability-progressive spastic diplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615075 +MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome skos:exactMatch NCIT:C176897 Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with spastic diplegia and visual defects MONDO:0014036 Alzheimer disease 17 skos:closeMatch OMIM:615080 alzheimer disease 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 17, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014036 Alzheimer disease 17 skos:exactMatch NCIT:C169104 Alzheimer's Disease 17 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alzheimers disorder type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -24916,101 +24922,101 @@ MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet: MONDO:0014038 colorectal cancer, susceptibility to, 12 skos:closeMatch Orphanet:447877 Polymerase proofreading-related adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615083 MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia-myopathy-emaciation syndrome MONDO:0014039 mitochondrial DNA depletion syndrome 11 skos:closeMatch Orphanet:352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615084 -MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch OMIM:615085 osteopetrosis, autosomal recessive 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis, autosomal recessive type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014040 autosomal recessive osteopetrosis 8 skos:closeMatch Orphanet:667 Autosomal recessive malignant osteopetrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615085 MONDO:0014042 left ventricular noncompaction 7 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615092 MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615095 MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch OMIM:615095 microcephaly 10, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 10, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency skos:closeMatch Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615095 +MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyshchenko syndrome MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch Orphanet:289553 Dysmorphism-conductive hearing loss-heart defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615102 MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tyshchenko syndrome -MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome skos:closeMatch OMIM:615102 tyshchenko syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tyshchenko syndrome MONDO:0014046 Cowden syndrome 4 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615107 MONDO:0014047 Cowden syndrome 5 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615108 MONDO:0014048 Cowden syndrome 6 skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615109 MONDO:0014049 urofacial syndrome 2 skos:closeMatch Orphanet:2704 Ochoa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615112 -MONDO:0014050 isolated microphthalmia 8 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615113 MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014050 isolated microphthalmia 8 skos:closeMatch OMIM:615113 microphthalmia, isolated 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014050 isolated microphthalmia 8 skos:closeMatch Orphanet:2542 Isolated microphthalmia-anophthalmia-coloboma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615113 MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615119 -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with pre- and postsynaptic defects -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 -MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, due to agrin deficiency MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, due to agrin deficiency +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch OMIM:615120 myasthenic syndrome, congenital, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with pre- and postsynaptic defects +MONDO:0014052 congenital myasthenic syndrome 8 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615120 MONDO:0014054 lymphoproliferative syndrome 2 skos:closeMatch Orphanet:238505 Combined immunodeficiency due to CD27 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615122 +MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615127 MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch OMIM:615127 epilepsy, familial adult myoclonic, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014055 epilepsy, familial adult myoclonic, 4 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615127 MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615134 -MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:511 Maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 +MONDO:0014057 maple syrup urine disease, mild variant skos:closeMatch Orphanet:268162 Intermediate maple syrup urine disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615135 +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, immunodeficiency, livedo, and short stature +MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, immunodeficiency, livedo, and short stature MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615139 MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fils -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, immunodeficiency, livedo, and short stature -MONDO:0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome skos:closeMatch OMIM:615139 facial dysmorphism, immunodeficiency, livedo, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, immunodeficiency, livedo, and short stature MONDO:0014059 microphthalmia, isolated, with coloboma 9 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615145 MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, iris coloboma, and comedogenic acne syndrome MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch OMIM:615147 retinal dystrophy, iris coloboma, and comedogenic acne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, iris coloboma, and comedogenic acne syndrome MONDO:0014060 progressive retinal dystrophy due to retinol transport defect skos:closeMatch Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615147 MONDO:0014061 Steel syndrome skos:closeMatch OMIM:615155 steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dislocated hips and radial heads, carpal coalition, scoliosis, and short stature MONDO:0014061 Steel syndrome skos:closeMatch Orphanet:438117 Steel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615155 -MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch OMIM:615156 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal dominant type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy skos:closeMatch Orphanet:352470 DNA2-related mitochondrial DNA deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615156 MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615157 MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615158 MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615159 MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615160 +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch OMIM:615162 intellectual developmental disorder, autosomal recessive 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt35 -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch Orphanet:357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 MONDO:0014068 cone-rod dystrophy 17 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615163 -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615170 MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wahab syndrome +MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch Orphanet:357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wahab syndrome -MONDO:0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome skos:closeMatch OMIM:615170 wahab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome MONDO:0014070 oculocutaneous albinism type 7 skos:closeMatch Orphanet:352745 Oculocutaneous albinism type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615179 +MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3galnt2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615181 -MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 skos:closeMatch OMIM:615181 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3galnt2-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined d-2- and l-2-hydroxyglutaric aciduria -MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined d-2- and l-2-hydroxyglutaric aciduria MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch Orphanet:356978 D,L-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615182 -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 -MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined d-2- and l-2-hydroxyglutaric aciduria +MONDO:0014072 D,L-2-hydroxyglutaric aciduria skos:closeMatch OMIM:615182 combined d-2- and l-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined d-2- and l-2-hydroxyglutaric aciduria MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch OMIM:615184 cardiomyopathy, dilated, 1ii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1ii semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014073 dilated cardiomyopathy 1II skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615184 +MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615185 MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch OMIM:615185 charcot-marie-tooth disease, dominant intermediate f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, dominant intermediate f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F skos:closeMatch Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615185 MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014075 cataract 39 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615188 +MONDO:0014075 cataract 39 multiple types skos:closeMatch OMIM:615188 cataract 39, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 39, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch OMIM:615190 dyskeratosis congenita, autosomal recessive 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal dominant type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615190 MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch OMIM:615191 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, autosomal dominant, actn1-related -MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615193 +MONDO:0014078 platelet-type bleeding disorder 15 skos:closeMatch OMIM:615193 bleeding disorder, platelet-type, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014080 osteosclerotic metaphyseal dysplasia skos:closeMatch Orphanet:500548 Osteosclerotic metaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615198 -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card11 immunodeficiency -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch OMIM:615206 immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym card11 immunodeficiency +MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch Orphanet:357237 Severe combined immunodeficiency due to CARD11 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch Orphanet:357329 Combined immunodeficiency due to IL21R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch OMIM:615207 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch OMIM:615214 agammaglobulinemia 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to pik3r1 defect @@ -25018,15 +25024,15 @@ MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:exactMatch NCIT:C173403 Ataxia-Oculomotor Apraxia Type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia-oculomotor apraxia type 3 MONDO:0014084 ataxia with oculomotor apraxia type 3 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615217 MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615219 -MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014086 osteogenesis imperfecta type 15 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615220 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:615222 smith-mccort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch Orphanet:178355 Smith-McCort dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smc2 MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smc2 +MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch OMIM:605576 SMC2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smc2 MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch OMIM:615224 advanced sleep phase syndrome, familial, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym advanced sleep phase syndrome, familial, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014088 advanced sleep phase syndrome 2 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615224 @@ -25034,47 +25040,47 @@ MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-l MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome skos:closeMatch Orphanet:352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615225 MONDO:0014090 polydactyly, postaxial, type A6 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615226 MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615228 -MONDO:0014092 schizophrenia 18 skos:closeMatch OMIM:615232 schizophrenia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 18 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014092 schizophrenia 18 skos:closeMatch NCIT:C94378 Schizoaffective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schizoaffective disorder MONDO:0014092 schizophrenia 18 skos:exactMatch OMIM:613959 schizophrenia 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chromosome type 7q36.3 duplication syndrome, type 362-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014092 schizophrenia 18 skos:closeMatch OMIM:615232 schizophrenia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schizophrenia type 18 with or without an affective disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014093 retinitis pigmentosa 66 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615233 -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch Orphanet:300298 Severe congenital hypochromic anemia with ringed sideroblasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615234 -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts skos:closeMatch OMIM:615234 anemia, hypochromic microcytic, with iron overload 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, hypochromic microcytic, with iron overload type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615235 +MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014095 dilated cardiomyopathy 1JJ skos:closeMatch OMIM:615235 cardiomyopathy, dilated, 1jj semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1jj semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woods syndrome MONDO:0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome skos:closeMatch OMIM:615236 woods syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label woods syndrome -MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital short bowel syndrome +MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital short bowel syndrome MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital short bowel syndrome +MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital short bowel syndrome MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label congenital short bowel syndrome -MONDO:0014097 congenital short bowel syndrome skos:exactMatch OMIM:615237 congenital short bowel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital short bowel syndrome MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch Orphanet:435651 CIDEC-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615238 MONDO:0014098 CIDEC-related familial partial lipodystrophy skos:closeMatch OMIM:615238 lipodystrophy, familial partial, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with cidec mutations MONDO:0014099 nephrotic syndrome, type 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615244 -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial hypertrophic, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 +MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch OMIM:615248 cardiomyopathy, dilated, 1kk semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1kk semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014100 dilated cardiomyopathy 1KK skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615248 -MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615249 MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch OMIM:615249 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, pomk-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 +MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615249 MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 +MONDO:0014102 hypogonadotropic hypogonadism 17 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615266 MONDO:0014103 hypogonadotropic hypogonadism 18 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615267 MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch OMIM:615268 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq4 MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615268 -MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 -MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 +MONDO:0014105 hypogonadotropic hypogonadism 19 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615269 MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 +MONDO:0014106 hypogonadotropic hypogonadism 20 with or without anosmia skos:closeMatch Orphanet:432 Normosmic congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615270 MONDO:0014107 hypogonadotropic hypogonadism 21 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615271 +MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615272 MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group q MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch OMIM:615272 fanconi anemia, complementation group q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group q -MONDO:0014108 Fanconi anemia complementation group Q skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615272 MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014110 cataract 15 multiple types skos:closeMatch OMIM:615274 cataract 15, multiple types semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 15, multiple types semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014110 cataract 15 multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615274 @@ -25084,26 +25090,26 @@ MONDO:0014111 cataract 19 multiple types skos:closeMatch Orphanet:91492 Early-on MONDO:0014112 cardiofaciocutaneous syndrome 2 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615278 MONDO:0014113 cardiofaciocutaneous syndrome 3 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615279 MONDO:0014114 cardiofaciocutaneous syndrome 4 skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615280 -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartyl-trna synthetase deficiency +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615281 MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomyelination with brainstem and spinal cord involvement and leg spasticity +MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspartyl-trna synthetase deficiency MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch OMIM:615281 hypomyelination with brainstem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with brainstem and spinal cord involvement and leg spasticity -MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity skos:closeMatch Orphanet:363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615281 MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:closeMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014116 complex cortical dysplasia with other brain malformations 2 skos:closeMatch OMIM:615282 cortical dysplasia, complex, with other brain malformations 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 skos:closeMatch Orphanet:363981 Charcot-Marie-Tooth disease type 4B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615284 -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615285 MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch OMIM:615285 neutropenia, severe congenital, 5, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 5, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch NCIT:C186789 Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies +MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615285 MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch Orphanet:363528 Intellectual disability-strabismus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615286 +MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch NCIT:C186789 Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch OMIM:615287 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, b3gnt1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615287 -MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 +MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 MONDO:0014122 myofibromatosis, infantile, 2 skos:closeMatch Orphanet:2591 Infantile myofibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615293 MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch OMIM:615294 ciliary dyskinesia, primary, 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 21, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014123 primary ciliary dyskinesia 21 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615294 MONDO:0014124 Adams-Oliver syndrome 4 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615297 MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 @@ -25111,89 +25117,89 @@ MONDO:0014126 Perrault syndrome 4 skos:closeMatch Orphanet:2855 Perrault syndrom MONDO:0014127 oculocutaneous albinism type 5 skos:closeMatch Orphanet:370091 Oculocutaneous albinism type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615312 MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 MONDO:0014130 Dowling-Degos disease 2 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615327 -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615328 MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch OMIM:615328 shaheen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shaheen syndrome +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615328 +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome skos:closeMatch Orphanet:363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shaheen syndrome MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 skos:closeMatch Orphanet:363424 Multiple mitochondrial dysfunctions syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615330 MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:352596 Progressive myoclonic epilepsy with dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 MONDO:0014133 developmental and epileptic encephalopathy, 16 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615338 -MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 +MONDO:0014134 pulmonary hypertension, primary, 2 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615342 MONDO:0014135 pulmonary hypertension, primary, 3 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615343 MONDO:0014136 pulmonary hypertension, primary, 4 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615344 MONDO:0014137 precocious puberty, central, 2 skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615346 MONDO:0014138 nemaline myopathy 8 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615348 -MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615349 +MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 skos:closeMatch OMIM:615349 ehlers-danlos syndrome, spondylodysplastic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye-brain disorder, gmppb-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 skos:closeMatch Orphanet:588 Muscle-eye-brain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615350 -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, gmppb-related -MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370959 Congenital muscular dystrophy with cerebellar involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, gmppb-related +MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2t MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch Orphanet:363623 GMPPB-related limb-girdle muscular dystrophy R19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615352 MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T skos:closeMatch OMIM:615352 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, gmppb-related MONDO:0014143 Noonan syndrome 8 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615355 -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2s -MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 +MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615356 +MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 skos:closeMatch Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 2s MONDO:0014145 Leber congenital amaurosis 17 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615360 MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch OMIM:615361 hypocalcemia, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypocalcemia, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:428 Autosomal dominant hypocalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 MONDO:0014146 autosomal dominant hypocalcemia 2 skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615361 -MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cln13 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:352709 CLN13 disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch OMIM:615362 ceroid lipofuscinosis, neuronal, 13 (kufs type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ceroid lipofuscinosis, neuronal, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014147 neuronal ceroid lipofuscinosis 13 skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615362 -MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen insensitivity MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label estrogen resistance +MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen insensitivity MONDO:0014148 estrogen resistance syndrome skos:closeMatch OMIM:615363 estrogen resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym estrogen resistance MONDO:0014148 estrogen resistance syndrome skos:closeMatch Orphanet:785 Estrogen resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615363 MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, lethal, autosomal recessive MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch OMIM:615368 lethal congenital contracture syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, lethal, autosomal recessive +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lethal congenital contracture syndrome type 5 semapv:RegularExpressionReplacement MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome skos:closeMatch Orphanet:363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615368 -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, childhood-onset MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch NCIT:C172100 Childhood-Onset Epileptic Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label childhood-onset epileptic encephalopathy -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 +MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 +MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch OMIM:615369 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epileptic encephalopathy, childhood-onset MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch OMIM:615373 left ventricular noncompaction 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1ll semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014152 left ventricular noncompaction 8 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615373 MONDO:0014153 cone-rod dystrophy 18 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615374 -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate c +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615376 MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch Orphanet:369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615376 +MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C skos:closeMatch OMIM:615376 charcot-marie-tooth disease, recessive intermediate c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth neuropathy, recessive intermediate c MONDO:0014155 atrial fibrillation, familial, 13 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615377 MONDO:0014156 atrial fibrillation, familial, 14 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615378 MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch OMIM:615381 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome skos:closeMatch Orphanet:363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615381 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nphp -MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nephronophthisis MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile nephronophthisis +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nephronophthisis +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive infantile nphp +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93591 Infantile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spectrin-associated autosomal recessive cerebellar ataxia -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615386 +MONDO:0014158 nephronophthisis 16 skos:closeMatch Orphanet:93592 Juvenile nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615382 MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, autosomal recessive, spectrin-associated, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch OMIM:615386 spinocerebellar ataxia, autosomal recessive 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spectrin-associated autosomal recessive cerebellar ataxia +MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 skos:closeMatch Orphanet:352403 Spectrin-associated autosomal recessive cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615386 MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell receptor-alpha/beta deficiency +MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tcr-alpha/beta deficiency MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch Orphanet:397959 TCR-alpha-beta-positive T-cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615387 -MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency skos:closeMatch OMIM:615387 immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014161 vesicoureteral reflux 7 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615390 +MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615395 MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch OMIM:615395 combined oxidative phosphorylation deficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency skos:closeMatch Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615395 MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch OMIM:615396 left ventricular noncompaction 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1mm semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 MONDO:0014163 left ventricular noncompaction 10 skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615396 @@ -25201,269 +25207,269 @@ MONDO:0014164 Meckel syndrome, type 11 skos:closeMatch Orphanet:564 Meckel syndr MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch Orphanet:369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615398 MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 skos:closeMatch OMIM:615398 multiple congenital anomalies-hypotonia-seizures syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615399 -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch OMIM:615400 epilepsy, familial adult myoclonic, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014167 epilepsy, familial adult myoclonic, 5 skos:closeMatch Orphanet:86814 Benign adult familial myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615400 MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency skos:closeMatch Orphanet:228003 Severe combined immunodeficiency due to CORO1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615401 MONDO:0014169 dyschromatosis universalis hereditaria 3 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615402 -MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:closeMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:closeMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014170 complex cortical dysplasia with other brain malformations 3 skos:closeMatch OMIM:615411 cortical dysplasia, complex, with other brain malformations 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:closeMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014171 complex cortical dysplasia with other brain malformations 4 skos:closeMatch OMIM:615412 cortical dysplasia, complex, with other brain malformations 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 +MONDO:0014172 spermatogenic failure 12 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615413 MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 skos:closeMatch Orphanet:294415 Renal-hepatic-pancreatic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615415 -MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615418 MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch NCIT:C129977 Mitochondrial DNA Depletion Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 12 semapv:RegularExpressionReplacement -MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive skos:closeMatch Orphanet:1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615418 MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615422 +MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 skos:closeMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch Orphanet:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615424 MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 skos:closeMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisystem proteinopathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency skos:closeMatch Orphanet:412181 Epidermolysis bullosa simplex due to BP230 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615425 MONDO:0014181 amyotrophic lateral sclerosis type 20 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615426 -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement +MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615429 MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615429 +MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 skos:closeMatch OMIM:615429 deafness, autosomal recessive 88 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 88 semapv:RegularExpressionReplacement MONDO:0014183 myopia 23, autosomal recessive skos:closeMatch Orphanet:98619 Rare isolated myopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615431 -MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615433 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 +MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615433 MONDO:0014185 chromosome 3q13.31 deletion syndrome skos:closeMatch Orphanet:1621 3q13 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536808 MONDO:0014186 retinitis pigmentosa with or without situs inversus skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615434 MONDO:0014187 aortic aneurysm, familial thoracic 8 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615436 MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014189 age related macular degeneration 13 skos:closeMatch OMIM:615439 macular degeneration, age-related, 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch Orphanet:369913 Combined oxidative phosphorylation defect type 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615440 +MONDO:0014190 combined oxidative phosphorylation defect type 17 skos:closeMatch OMIM:615440 combined oxidative phosphorylation deficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615441 MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 skos:closeMatch OMIM:615441 cardiac arrhythmia syndrome, with or without skeletal muscle weakness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615444 MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch OMIM:615444 ciliary dyskinesia, primary, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 22, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014192 primary ciliary dyskinesia 22 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615444 MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615451 MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 23, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014193 primary ciliary dyskinesia 23 skos:closeMatch OMIM:615451 ciliary dyskinesia, primary, 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615453 MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615458 -MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, myopic chorioretinal atrophy, and telecanthus MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcornea, myopic chorioretinal atrophy, and telecanthus -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome +MONDO:0014195 microcornea-myopic chorioretinal atrophy skos:closeMatch OMIM:615458 microcornea, myopic chorioretinal atrophy, and telecanthus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcornea, myopic chorioretinal atrophy, and telecanthus +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1845146 MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615465 +MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch Orphanet:2117 Hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hartsfield syndrome -MONDO:0014196 Hartsfield-Bixler-Demyer syndrome skos:closeMatch OMIM:615465 hartsfield syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hartsfield syndrome +MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch OMIM:615468 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch Orphanet:397964 Combined immunodeficiency due to MALT1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615471 -MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch OMIM:615471 mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 13 (encephalomyopathic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary aldosteronism, seizures, and neurologic abnormalities +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies +MONDO:0014198 mitochondrial DNA depletion syndrome 13 skos:closeMatch Orphanet:369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615471 MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:closeMatch Orphanet:369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615474 +MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities skos:exactMatch NCIT:C188151 Primary Aldosteronism, Seizures, and Neurologic Abnormalities semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary aldosteronism, seizures, and neurologic abnormalities MONDO:0014201 developmental and epileptic encephalopathy, 18 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615476 -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615481 -MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch OMIM:615481 ciliary dyskinesia, primary, 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 24, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014202 primary ciliary dyskinesia 24 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615481 MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch OMIM:615482 ciliary dyskinesia, primary, 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 25, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014203 primary ciliary dyskinesia 25 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615482 MONDO:0014204 basal ganglia calcification, idiopathic, 5 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615483 -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch Orphanet:352577 Bainbridge-Ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615485 -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bainbridge-ropers syndrome +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome skos:closeMatch OMIM:615485 bainbridge-ropers syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bainbridge-ropers syndrome MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615486 -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, reunion island MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch NCIT:C158135 Infantile Liver Failure Syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of -MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary alveolar proteinosis, reunion island +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:616483 infantile liver failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch OMIM:615486 interstitial lung and liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency skos:closeMatch Orphanet:440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615486 MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014207 age related macular degeneration 14 skos:closeMatch OMIM:615489 macular degeneration, age-related, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, reduced risk of MONDO:0014208 Charcot-Marie-Tooth disease type 2R skos:closeMatch Orphanet:397968 Charcot-Marie-Tooth disease type 2R semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615490 -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with optic atrophy, childhood-onset MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch Orphanet:352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch OMIM:615491 spastic paraplegia 79b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration with optic atrophy, childhood-onset MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch Orphanet:356996 ANK3-related intellectual disability-sleep disturbance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 -MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt37 MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615500 +MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch OMIM:615493 intellectual developmental disorder, autosomal recessive 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt37 +MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 26, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch OMIM:615500 ciliary dyskinesia, primary, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014211 primary ciliary dyskinesia 26 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615500 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:833 Encephalopathy due to sulfite oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 +MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group c MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854990 MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molybdenum cofactor deficiency, complementation group c -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch OMIM:615501 molybdenum cofactor deficiency, complementation group c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency, complementation group c -MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C skos:closeMatch Orphanet:99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615501 -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch Orphanet:363611 CTCF-related neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615502 +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome skos:closeMatch OMIM:615502 intellectual developmental disorder, autosomal dominant 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615503 -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615504 -MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615504 MONDO:0014215 primary ciliary dyskinesia 27 skos:closeMatch OMIM:615504 ciliary dyskinesia, primary, 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 27, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615505 -MONDO:0014216 primary ciliary dyskinesia 28 skos:closeMatch OMIM:615505 ciliary dyskinesia, primary, 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 28, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615506 +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome +MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe dermatitis, multiple allergies, and metabolic wasting syndrome MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615508 MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch OMIM:615508 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome skos:closeMatch Orphanet:369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sam syndrome -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch OMIM:615510 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine monophosphate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amp deaminase deficiency -MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine monophosphate deaminase-1 deficiency, myopathy due to +MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch Orphanet:869 Triple A syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ampd1 deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenosine monophosphate deaminase-1 deficiency, myopathy due to MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch OMIM:615511 myopathy due to myoadenylate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency, myopathy due to -MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615512 +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoadenylate deaminase deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenosine monophosphate deaminase deficiency +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615511 +MONDO:0014220 myopathy due to myoadenylate deaminase deficiency skos:closeMatch Orphanet:45 Adenosine monophosphate deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amp deaminase deficiency MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860808 -MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency +MONDO:0014221 triosephosphate isomerase deficiency skos:closeMatch Orphanet:868 Triose phosphate-isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615512 MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym activated pi3k-delta syndrome -MONDO:0014222 immunodeficiency 14 skos:exactMatch NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 14a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014222 immunodeficiency 14 skos:closeMatch OMIM:615513 immunodeficiency 14a with lymphoproliferation, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym p110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label activated pi3k-delta syndrome MONDO:0014222 immunodeficiency 14 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615513 +MONDO:0014222 immunodeficiency 14 skos:exactMatch NCIT:C187988 Immunodeficiency 14A, Autosomal Dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 14a, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014223 amyotrophic lateral sclerosis type 19 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615515 MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt38 MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch OMIM:615516 intellectual developmental disorder, autosomal recessive 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch Orphanet:329195 Developmental delay with autism spectrum disorder and gait instability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 -MONDO:0014225 hemochromatosis type 5 skos:closeMatch OMIM:615517 hemochromatosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron overload, autosomal dominant MONDO:0014225 hemochromatosis type 5 skos:closeMatch Orphanet:247790 FTH1-related iron overload semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615517 +MONDO:0014225 hemochromatosis type 5 skos:closeMatch OMIM:615517 hemochromatosis, iia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iron overload, autosomal dominant MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch Orphanet:228000 Idiopathic CD4 lymphocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615518 MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym idiopathic cd4 lymphopenia MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014226 idiopathic CD4 lymphocytopenia skos:closeMatch OMIM:615518 immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615522 +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch Orphanet:324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome skos:closeMatch OMIM:615522 cole disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 skos:closeMatch Orphanet:98974 Fuchs endothelial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615523 MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch OMIM:615524 microphthalmia, syndromic 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch Orphanet:2470 Matthew-Wood syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 -MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615527 MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:212050 immunodeficiency 103, susceptibility to fungal infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive MONDO:0014230 candidiasis, familial, 8 skos:closeMatch OMIM:615527 candidiasis, familial, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym candidiasis, familial chronic mucocutaneous, autosomal recessive -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park19, formerly -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19b, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014230 candidiasis, familial, 8 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615527 MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 19b, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym park19, formerly MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615528 -MONDO:0014231 juvenile onset Parkinson disease 19A skos:closeMatch OMIM:615528 parkinson disease 19a, juvenile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 19a, juvenile-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014232 craniosynostosis 5, susceptibility to skos:closeMatch Orphanet:35093 Non-syndromic sagittal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615529 -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch Orphanet:391411 Atypical juvenile parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615530 +MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014233 early-onset Parkinson disease 20 skos:closeMatch OMIM:615530 parkinson disease 20, early-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym parkinson disorder type 20, early-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kitamura reticulate acropigmentation MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticulate pigmentation of kitamura MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch OMIM:615537 reticulate acropigmentation of kitamura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acropigmentatio reticularis MONDO:0014234 reticulate acropigmentation of Kitamura skos:closeMatch Orphanet:178307 Reticulate acropigmentation of Kitamura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615537 -MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 +MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch OMIM:615539 ehlers-danlos syndrome, musculocontractural type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement +MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch OMIM:615540 deafness, autosomal recessive 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615540 +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt39 MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch OMIM:615541 intellectual developmental disorder, autosomal recessive 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch Orphanet:391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 MONDO:0014239 testicular anomalies with or without congenital heart disease skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615542 MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 MONDO:0014240 periventricular nodular heterotopia 6 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615544 MONDO:0014241 leukemia, acute lymphoblastic, susceptibility to, 3 skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615545 -MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615546 MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van maldergem syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch OMIM:615546 van maldergem syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label van maldergem syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi-like syndrome -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome +MONDO:0014242 van Maldergem syndrome 2 skos:closeMatch Orphanet:314679 Cerebrofacioarticular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615546 MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chitayat-hall syndrome -MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch OMIM:615547 schaaf-yang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prader-willi-like syndrome MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:739 Prader-Willi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615547 +MONDO:0014243 Schaaf-Yang syndrome skos:closeMatch Orphanet:398073 Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prader-willi-like syndrome +MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch NCIT:C125388 Neuropathy, Hereditary Sensory and Autonomic, Type VII semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory and autonomic, type vii MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch OMIM:615548 neuropathy, hereditary sensory and autonomic, iia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch NCIT:C125388 Neuropathy, Hereditary Sensory and Autonomic, Type VII semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuropathy, hereditary sensory and autonomic, type vii MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 skos:closeMatch Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615548 MONDO:0014245 Diamond-Blackfan anemia 12 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615550 MONDO:0014246 episodic pain syndrome, familial, 2 skos:closeMatch Orphanet:306577 Sodium channelopathy-related small fiber neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615551 MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch NCIT:C125390 Episodic Pain Syndrome, Familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391384 Familial episodic pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 +MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch OMIM:615552 episodic pain syndrome, familial, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym episodic pain syndrome, familial, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amrs MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch OMIM:615553 arthrogryposis, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, mental retardation, and seizures -MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome skos:closeMatch Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615553 MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple fibroadenomas of the breast MONDO:0014249 multiple fibroadenoma of the breast skos:closeMatch OMIM:615554 multiple fibroadenomas of the breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple fibroadenomas of the breast +MONDO:0014250 familial hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia MONDO:0014250 familial hyperprolactinemia skos:closeMatch Orphanet:397685 Familial hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615555 MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia MONDO:0014250 familial hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia -MONDO:0014250 familial hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia -MONDO:0014251 melioidosis, susceptibility to skos:closeMatch OMIM:615557 melioidosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melioidosis, resistance to MONDO:0014251 melioidosis, susceptibility to skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615557 -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, normotriglyceridemic +MONDO:0014251 melioidosis, susceptibility to skos:closeMatch OMIM:615557 melioidosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melioidosis, resistance to MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with hypobetalipoproteinemia MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial -MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615558 +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, normotriglyceridemic +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthocytosis with hypobetalipoproteinemia MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch OMIM:615558 hypobetalipoproteinemia, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypobetalipoproteinemia, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014252 familial hypobetalipoproteinemia 1 skos:closeMatch Orphanet:14 Abetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615558 MONDO:0014254 otofaciocervical syndrome 2 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615560 MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym complement factor b deficiency MONDO:0014255 complement factor b deficiency skos:closeMatch OMIM:615561 complement factor B deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label complement factor b deficiency MONDO:0014256 retinitis pigmentosa 67 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615565 MONDO:0014257 nephrotic syndrome, type 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615573 -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch NCIT:C168586 Asparagine Synthetase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label asparagine synthetase deficiency -MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615574 MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch OMIM:615574 asparagine synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym asns deficiency -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615575 -MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal dominant, calf-predominant +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:closeMatch Orphanet:391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615574 +MONDO:0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome skos:exactMatch NCIT:C168586 Asparagine Synthetase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label asparagine synthetase deficiency MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmn type 2d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch OMIM:615575 neuronopathy, distal hereditary motor, iia 2d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, distal, autosomal dominant, calf-predominant +MONDO:0014259 neuronopathy, distal hereditary motor, type 2D skos:closeMatch Orphanet:139525 Distal hereditary motor neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615575 MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 -MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, with central adrenal insufficiency MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 +MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch OMIM:615577 immunodeficiency, common variable, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, with central adrenal insufficiency +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615578 MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch OMIM:615578 combined oxidative phosphorylation deficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome skos:closeMatch Orphanet:391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615578 +MONDO:0014262 Rienhoff syndrome skos:exactMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 5 +MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014262 Rienhoff syndrome skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615582 -MONDO:0014262 Rienhoff syndrome skos:closeMatch OMIM:615582 loeys-dietz syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014262 Rienhoff syndrome skos:closeMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loeys-dietz syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0014262 Rienhoff syndrome skos:exactMatch NCIT:C188143 Loeys-Dietz Syndrome Type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label loeys-dietz syndrome type 5 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch Orphanet:508488 8q24.3 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615583 MONDO:0014263 8q24.3 microdeletion syndrome skos:closeMatch OMIM:615583 verheij syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 8q24.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014265 Alzheimer disease 18 skos:closeMatch OMIM:615590 alzheimer disease 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 18, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014266 age related macular degeneration 15 skos:closeMatch OMIM:615591 macular degeneration, age-related, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular degeneration, age-related, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ox40 deficiency MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch Orphanet:431149 Combined immunodeficiency due to OX40 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch OMIM:615593 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014269 combined oxidative phosphorylation deficiency 19 skos:closeMatch Orphanet:397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615595 MONDO:0014270 STT3A-congenital disorder of glycosylation skos:closeMatch Orphanet:370921 STT3A-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615596 -MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931007 MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615597 MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch OMIM:615597 congenital disorder of glycosylation, iia ix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg ix +MONDO:0014271 STT3B-congenital disorder of glycosylation skos:closeMatch Orphanet:370924 STT3B-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931007 MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch Orphanet:140966 Palmoplantar keratoderma, Nagashima type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch Orphanet:397951 Microcephaly-thin corpus callosum-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch OMIM:615599 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -25471,45 +25477,45 @@ MONDO:0014274 L-ferritin deficiency skos:closeMatch Orphanet:440731 L-ferritin d MONDO:0014275 Fanconi renotubular syndrome 3 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615605 MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:closeMatch Orphanet:169082 Combined immunodeficiency due to CD3gamma deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615607 MONDO:0014278 immunodeficiency 18 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615615 +MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive -MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd3-delta deficiency MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive -MONDO:0014280 immunodeficiency 19 skos:closeMatch Orphanet:169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615617 +MONDO:0014280 immunodeficiency 19 skos:closeMatch OMIM:615617 immunodeficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd3-delta deficiency MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615619 MONDO:0014281 cholangiocarcinoma, susceptibility to skos:closeMatch OMIM:615619 cholangiocarcinoma, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chlc, susceptibility to -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch Orphanet:401849 Autosomal spastic paraplegia type 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615625 -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement +MONDO:0014282 hereditary spastic paraplegia 72 skos:closeMatch OMIM:615625 spastic paraplegia 72, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spastic paraplegia type 72, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement +MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement +MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch OMIM:615629 deafness, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615629 MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:140969 Saldino-Mainzer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615630 -MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 -MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615632 +MONDO:0014285 congenital dyserythropoietic anemia type type 1B skos:closeMatch Orphanet:98869 Congenital dyserythropoietic anemia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615631 MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch OMIM:615632 neuropathy, hereditary sensory, iia 1f semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsn type 1f semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014286 neuropathy, hereditary sensory, type 1F skos:closeMatch Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615632 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:93271 Short rib-polydactyly syndrome, Verma-Naumoff type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615633 -MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 -MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014288 Joubert syndrome 21 skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615636 MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt41 +MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch OMIM:615637 intellectual developmental disorder, autosomal recessive 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch Orphanet:397612 Macrocephaly-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coasy protein-associated neurodegeneration MONDO:0014290 neurodegeneration with brain iron accumulation 6 skos:closeMatch Orphanet:397725 COASY protein-associated neurodegeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615643 +MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615649 MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch OMIM:615649 deafness, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615649 MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch OMIM:615651 leukoencephalopathy with ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with ataxia MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615651 MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema skos:closeMatch NCIT:C171603 Leukoencephalopathy with Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy with ataxia -MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch OMIM:615654 deafness, autosomal dominant 58 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 58 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615654 MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615656 MONDO:0014294 chromosome 15q11.2 deletion syndrome skos:closeMatch Orphanet:261183 15q11.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3180937 @@ -25519,149 +25525,149 @@ MONDO:0014295 hereditary spastic paraplegia 57 skos:closeMatch Orphanet:431329 A MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch OMIM:615663 warburg micro syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg micro syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch OMIM:615663 warburg micro syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warburg micro syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014296 Warburg micro syndrome 4 skos:closeMatch Orphanet:2510 Micro syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615663 -MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 +MONDO:0014297 Joubert syndrome 22 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615665 MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615668 MONDO:0014298 chromosome 5q12 deletion syndrome skos:closeMatch Orphanet:439822 PDE4D haploinsufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pde4d haploinsufficiency syndrome -MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014299 schwannomatosis 2 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615670 -MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615673 +MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014299 schwannomatosis 2 skos:closeMatch OMIM:615670 schwannomatosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with extrapyramidal signs MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch OMIM:615673 myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy with extrapyramidal signs -MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615674 -MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014300 proximal myopathy with extrapyramidal signs skos:closeMatch Orphanet:401768 Proximal myopathy with extrapyramidal signs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615673 MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014301 dowling-degos disease 3 skos:closeMatch OMIM:615674 dowling-degos disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dowling-degos disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014301 dowling-degos disease 3 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615674 MONDO:0014302 hereditary spastic paraplegia 62 skos:closeMatch Orphanet:401785 Autosomal recessive spastic paraplegia type 62 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615681 -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch Orphanet:401810 Autosomal recessive spastic paraplegia type 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615683 +MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014303 hereditary spastic paraplegia 64 skos:closeMatch OMIM:615683 spastic paraplegia 64, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 64, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615685 MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch OMIM:615685 spastic paraplegia 61, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 61, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014304 hereditary spastic paraplegia 61 skos:closeMatch Orphanet:401780 Autosomal recessive spastic paraplegia type 61 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615685 MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 63 -MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch Orphanet:401805 Autosomal recessive spastic paraplegia type 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615686 MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 +MONDO:0014305 hereditary spastic paraplegia 63 skos:closeMatch OMIM:615686 spastic paraplegia 63, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 63, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 -MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615688 MONDO:0014306 vasculitis due to ADA2 deficiency skos:exactMatch NCIT:C126347 Adenosine Deaminase 2 Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adenosine deaminase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 +MONDO:0014306 vasculitis due to ADA2 deficiency skos:closeMatch Orphanet:404553 Vasculitis due to ADA2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615688 MONDO:0014307 Dowling-Degos disease 4 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615696 -MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615697 MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch OMIM:615697 epilepsy, familial temporal lobe, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014308 familial temporal lobe epilepsy 6 skos:closeMatch Orphanet:163717 Benign familial mesial temporal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615697 MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch Orphanet:397615 Obesity due to CEP19 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615703 -MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morbid obesity and spermatogenic failure MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morbid obesity and spermatogenic failure -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement +MONDO:0014309 obesity due to CEP19 deficiency skos:closeMatch OMIM:615703 morbid obesity and spermatogenic failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label morbid obesity and spermatogenic failure MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis -MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch Orphanet:221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615704 -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis +MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement skos:closeMatch OMIM:615704 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615705 -MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn deficiency +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch Orphanet:404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salih ataxia -MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 skos:closeMatch OMIM:615705 spinocerebellar ataxia, autosomal recessive 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch Orphanet:137888 Auriculocondylar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615706 MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 +MONDO:0014312 auriculocondylar syndrome 3 skos:closeMatch OMIM:615706 auriculocondylar syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auriculocondylar syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch OMIM:615707 immunodeficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity skos:closeMatch Orphanet:437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615707 MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch Orphanet:397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615709 -MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis with vertebral anomalies MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sacral agenesis with vertebral anomalies +MONDO:0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome skos:closeMatch OMIM:615709 sacral agenesis with vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis with vertebral anomalies MONDO:0014316 Alzheimer disease 19 skos:closeMatch OMIM:615711 alzheimer disease 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alzheimer disorder type 19, late-onset semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch OMIM:615715 bone marrow failure syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014317 pancytopenia-developmental delay syndrome skos:closeMatch Orphanet:401764 Pancytopenia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615715 +MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615716 -MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 skos:closeMatch OMIM:615716 hyperphosphatasia with impaired intellectual development syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hpmrs4 -MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 +MONDO:0014319 renal hypodysplasia/aplasia 2 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615721 MONDO:0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome skos:closeMatch Orphanet:401777 Optic atrophy-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615722 MONDO:0014322 premature ovarian failure 9 skos:closeMatch OMIM:615724 premature ovarian failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof9 MONDO:0014323 retinitis pigmentosa 68 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615725 MONDO:0014324 pachyonychia congenita 3 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615726 MONDO:0014325 pachyonychia congenita 4 skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615728 -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 -MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 +MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171433 Intermediate nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 +MONDO:0014326 nemaline myopathy 9 skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615731 MONDO:0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse skos:closeMatch Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615735 MONDO:0014328 developmental and epileptic encephalopathy, 19 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615744 -MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 -MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, atrial dilated, with atrial standstill MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrial dilation and standstill +MONDO:0014329 atrial standstill 2 skos:closeMatch OMIM:615745 atrial standstill 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, atrial dilated, with atrial standstill +MONDO:0014329 atrial standstill 2 skos:closeMatch Orphanet:1344 Atrial standstill semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615745 MONDO:0014331 Moyamoya disease with early-onset achalasia skos:closeMatch Orphanet:401945 Moyamoya disease with early-onset achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615750 -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch Orphanet:401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615751 +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency skos:closeMatch OMIM:615751 carbonic anhydrase 5a deficiency, hyperammonemia due to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carbonic anhydrase type 5a deficiency, hyperammonemia due to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch OMIM:615752 polymicrogyria, bilateral perisylvian, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pmgr MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 MONDO:0014333 polymicrogyria, bilateral perisylvian, autosomal recessive skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615752 -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, progressive, with seizures and cerebral and cerebellar atrophy +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch OMIM:615758 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch Orphanet:280142 Severe combined immunodeficiency due to LCK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, progressive, with seizures and cerebral and cerebellar atrophy +MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch OMIM:615760 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, progressive, with seizures and cerebral and cerebellar atrophy MONDO:0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome skos:closeMatch Orphanet:404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615760 -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch Orphanet:404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615761 -MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency skos:closeMatch OMIM:615761 intellectual developmental disorder, autosomal dominant 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 -MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014337 complex cortical dysplasia with other brain malformations 5 skos:closeMatch OMIM:615763 cortical dysplasia, complex, with other brain malformations 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:exactMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement +MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch NCIT:C176801 Immunodeficiency, Common Variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch Orphanet:477661 IL21-related infantile inflammatory bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch OMIM:615767 immunodeficiency, common variable, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21 deficiency -MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to stub1 deficiency MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch Orphanet:412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615768 +MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 skos:closeMatch OMIM:615768 spinocerebellar ataxia, autosomal recessive 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014340 atrial fibrillation, familial, 15 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615770 MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014341 complex cortical dysplasia with other brain malformations 6 skos:closeMatch OMIM:615771 cortical dysplasia, complex, with other brain malformations 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615774 +MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014342 female infertility due to zona pellucida defect skos:closeMatch OMIM:615774 oocyte maturation defect 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014343 Desbuquois dysplasia 2 skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615777 -MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 +MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014344 congenital heart defects, multiple types, 4 skos:closeMatch Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615779 MONDO:0014345 retinitis pigmentosa 69 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615780 -MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014346 white sponge nevus 2 skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 +MONDO:0014346 white sponge nevus 2 skos:closeMatch OMIM:615785 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615802 -MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014348 intellectual disability, autosomal recessive 42 skos:closeMatch OMIM:615802 neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014349 pontocerebellar hypoplasia type 10 skos:closeMatch Orphanet:411493 Pontocerebellar hypoplasia type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615803 MONDO:0014350 Seckel syndrome 8 skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615807 MONDO:0014351 pontocerebellar hypoplasia type 9 skos:closeMatch Orphanet:369920 Pontocerebellar hypoplasia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615809 MONDO:0014353 immunodeficiency 23 skos:closeMatch Orphanet:443811 PGM3-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615816 -MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt43 +MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch OMIM:615817 intellectual developmental disorder, autosomal recessive 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 MONDO:0014355 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis skos:closeMatch Orphanet:65282 Carvajal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615821 MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615824 -MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615828 +MONDO:0014357 intellectual disability, autosomal dominant 24 skos:closeMatch OMIM:615828 vulto-van silfhout-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014358 AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome skos:closeMatch Orphanet:412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615829 +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent adrenal cushing syndrome, somatic -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to ppnad4 -MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch Orphanet:189439 Primary pigmented nodular adrenocortical disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch OMIM:615830 pigmented nodular adrenocortical disease, primary, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 19p13 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014360 developmental and epileptic encephalopathy, 21 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615833 MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency skos:closeMatch Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615834 +MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement -MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch OMIM:615837 deafness, autosomal recessive 101 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 101 semapv:RegularExpressionReplacement MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615837 MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615838 @@ -25671,156 +25677,156 @@ MONDO:0014367 Aicardi-Goutieres syndrome 7 skos:closeMatch Orphanet:51 Aicardi-G MONDO:0014368 melanoma, cutaneous malignant, susceptibility to, 10 skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615848 MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615849 MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch Orphanet:420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome -MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label culler-jones syndrome MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pallister-hall syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label culler-jones syndrome +MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome skos:closeMatch OMIM:615849 culler-jones syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym culler-jones syndrome MONDO:0014370 pontocerebellar hypoplasia type 2E skos:closeMatch Orphanet:247198 Progressive cerebello-cerebral atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615851 MONDO:0014371 developmental and epileptic encephalopathy, 23 skos:closeMatch Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615859 MONDO:0014372 cone-rod dystrophy 19 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615860 -MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 +MONDO:0014373 nephrotic syndrome, type 10 skos:closeMatch Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615861 MONDO:0014374 nephronophthisis 18 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615862 MONDO:0014375 congenital diarrhea 7 with exudative enteropathy skos:closeMatch Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615863 MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615866 MONDO:0014376 intellectual disability, autosomal dominant 27 skos:closeMatch OMIM:615866 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014377 developmental and epileptic encephalopathy, 24 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615871 -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615872 +MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014378 primary ciliary dyskinesia 29 skos:closeMatch OMIM:615872 ciliary dyskinesia, primary, 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 29, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615873 -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adnp syndrome MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome -MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch NCIT:C160662 Mental Retardation, Autosomal Dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch Orphanet:404448 ADNP syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adnp syndrome MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym helsmoortel-van der aa syndrome MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch OMIM:615873 helsmoortel-van der aa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label helsmoortel-van der aa syndrome -MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder skos:closeMatch NCIT:C160662 Mental Retardation, Autosomal Dominant 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia/coloboma and skeletal dysplasia syndrome MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia/coloboma and skeletal dysplasia syndrome +MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch OMIM:615877 microphthalmia/coloboma and skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome skos:closeMatch Orphanet:424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615877 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive familial intrahepatic cholestasis type 4 semapv:RegularExpressionReplacement MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 skos:closeMatch Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615878 MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:615879 tatton-brown-rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tatton-brown-rahman syndrome -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615879 +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:404443 Tatton-Brown-Rahman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tatton-brown-rahman syndrome MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 MONDO:0014384 hypotrichosis 12 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615885 -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 -MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia5 MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia5 +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch OMIM:615887 amelogenesis imperfecta, hypomaturation type, iia5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amelogenesis imperfecta, hypomaturation type, iia5 +MONDO:0014385 amelogenesis imperfecta hypomaturation type 2A5 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615887 +MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch Orphanet:420566 Bleeding disorder due to CalDAG-GEFI deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615888 -MONDO:0014386 platelet-type bleeding disorder 18 skos:closeMatch OMIM:615888 bleeding disorder, platelet-type, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 MONDO:0014387 leukoencephalopathy, progressive, with ovarian failure skos:closeMatch Orphanet:135 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615889 MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch Orphanet:401942 Familial median cleft of the upper and lower lips semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch OMIM:615892 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:397937 Polyglucosan body myopathy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 +MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency skos:closeMatch Orphanet:329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615895 MONDO:0014390 hypotrichosis 13 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615896 -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch Orphanet:420573 Severe combined immunodeficiency due to CTPS1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch OMIM:615897 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014392 developmental and epileptic encephalopathy, 25 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615905 MONDO:0014393 lymphatic malformation 4 skos:closeMatch Orphanet:79452 Milroy disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615907 MONDO:0014394 Diamond-Blackfan anemia 13 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615909 MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615911 +MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615916 MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 1nn semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch OMIM:615916 cardiomyopathy, dilated, 1nn semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 1nn semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014396 dilated cardiomyopathy 1NN skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615916 -MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch OMIM:615917 combined oxidative phosphorylation deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014397 combined oxidative phosphorylation defect type 20 skos:closeMatch Orphanet:420728 Combined oxidative phosphorylation defect type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615917 -MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch OMIM:615918 combined oxidative phosphorylation deficiency 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014398 combined oxidative phosphorylation defect type 21 skos:closeMatch Orphanet:420733 Combined oxidative phosphorylation defect type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615918 -MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pcna-related progressive neurodegenerative photosensitivity syndrome +MONDO:0014399 ataxia-telangiectasia-like disorder 2 skos:closeMatch Orphanet:438134 PCNA-related progressive neurodegenerative photosensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615919 MONDO:0014400 retinitis pigmentosa 70 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615922 MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome skos:closeMatch Orphanet:329191 Tall stature-long halluces-multiple extra-epiphyses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615923 -MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615924 MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, with or without lipodystrophy MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch OMIM:615924 encephalopathy, progressive, with or without lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, with or without lipodystrophy +MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy skos:closeMatch Orphanet:363400 Severe neurodegenerative syndrome with lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615924 MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone deficiency, isolated partial MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch OMIM:615925 growth hormone deficiency, isolated partial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym growth hormone deficiency, isolated partial MONDO:0014403 short stature due to GHSR deficiency skos:closeMatch Orphanet:314811 Short stature due to GHSR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615925 MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym webb-dattani syndrome MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies MONDO:0014404 Webb-Dattani syndrome skos:closeMatch OMIM:615926 webb-dattani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label webb-dattani syndrome -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sting-associated vasculopathy, infantile-onset +MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615934 MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset +MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch OMIM:615934 sting-associated vasculopathy, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sting-associated vasculopathy, infantile-onset MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch NCIT:C177547 STING-Associated Vasculopathy, Infantile-Onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sting-associated vasculopathy, infantile-onset -MONDO:0014405 STING-associated vasculopathy with onset in infancy skos:closeMatch Orphanet:425120 STING-associated vasculopathy with onset in infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615934 MONDO:0014406 pancreatic agenesis 2 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615935 MONDO:0014406 pancreatic agenesis 2 skos:closeMatch OMIM:615935 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615937 MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 skos:closeMatch Orphanet:83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615938 -MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch OMIM:615942 intellectual developmental disorder, autosomal recessive 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt44 -MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch OMIM:615945 spinocerebellar ataxia 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 37 semapv:RegularExpressionReplacement MONDO:0014410 spinocerebellar ataxia type 37 skos:closeMatch Orphanet:363710 Spinocerebellar ataxia type 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615945 -MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:535458 Familial GPIHBP1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014412 hyperlipoproteinemia, type 1D skos:closeMatch Orphanet:444490 Familial chylomicronemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615947 MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch OMIM:615948 orofaciodigital syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615948 MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch Orphanet:434179 Orofaciodigital syndrome type 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch OMIM:615952 autoimmune disease, multisystem, infantile-onset, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune disorder, multisystem, infantile-onset, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease skos:closeMatch Orphanet:438159 STAT3-related early-onset multisystem autoimmune disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615952 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615954 MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 skos:closeMatch OMIM:615954 acth-independent macronodular adrenal hyperplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary macronodular adrenal hyperplasia -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement -MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch OMIM:615957 spinocerebellar ataxia 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615957 +MONDO:0014417 spinocerebellar ataxia type 38 skos:closeMatch Orphanet:423296 Spinocerebellar ataxia type 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 38 semapv:RegularExpressionReplacement MONDO:0014418 myopathy, centronuclear, 5 skos:closeMatch Orphanet:169186 Autosomal recessive centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615959 -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615960 -MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poretti-boltshauser syndrome MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch OMIM:615960 poretti-boltshauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acid-labile subunit deficiency -MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poretti-boltshauser syndrome +MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome skos:closeMatch Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615960 MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch NCIT:C120114 Acid-Labile Subunit Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency +MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acid-labile subunit deficiency +MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch OMIM:615961 acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acid-labile subunit deficiency MONDO:0014420 short stature due to primary acid-labile subunit deficiency skos:closeMatch Orphanet:140941 Short stature due to primary acid-labile subunit deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615961 +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccr deficiency +MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841972 +MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615962 MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glucocorticoid resistance, generalized MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid receptor deficiency -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gccr deficiency -MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grl deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gcr deficiency MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortisol resistance from glucocorticoid receptor defect MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glucocorticoid resistance, generalized MONDO:0014421 glucocorticoid resistance skos:exactMatch NCIT:C126809 Glucocorticoid Resistance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glucocorticoid resistance -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1841972 -MONDO:0014421 glucocorticoid resistance skos:closeMatch Orphanet:786 Generalized glucocorticoid resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615962 +MONDO:0014421 glucocorticoid resistance skos:closeMatch OMIM:615962 glucocorticoid resistance, generalized semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym grl deficiency MONDO:0014422 vesicoureteral reflux 8 skos:closeMatch Orphanet:289365 Familial vesicoureteral reflux semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615963 +MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch NCIT:C176795 Immunodeficiency 26 with or without Neurologic Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch OMIM:615966 immunodeficiency 26 with or without neurologic abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch NCIT:C176795 Immunodeficiency 26 with or without Neurologic Abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 26 with or without neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 -MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615972 MONDO:0014426 nanophthalmos 4 skos:closeMatch OMIM:615972 nanophthalmos 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nanophthalmia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014426 nanophthalmos 4 skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615972 MONDO:0014427 cone-rod dystrophy 20 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615973 -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615974 MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 skos:closeMatch OMIM:615974 deafness, autosomal recessive 102 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 102 semapv:RegularExpressionReplacement MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency skos:closeMatch Orphanet:319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615978 MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch OMIM:615979 intellectual developmental disorder, autosomal recessive 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt45 -MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch OMIM:615980 lipodystrophy, familial partial, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with lipe mutations MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch Orphanet:435660 LIPE-related familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615980 +MONDO:0014431 LIPE-related familial partial lipodystrophy skos:closeMatch OMIM:615980 lipodystrophy, familial partial, iia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipodystrophy, familial partial, associated with lipe mutations MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome -MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615981 MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch NCIT:C118632 Bardet-Biedl Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome +MONDO:0014432 Bardet-Biedl syndrome 2 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615981 MONDO:0014433 Bardet-Biedl syndrome 4 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615982 MONDO:0014434 Bardet-Biedl syndrome 5 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615983 MONDO:0014435 Bardet-Biedl syndrome 7 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615984 @@ -25837,86 +25843,86 @@ MONDO:0014445 Bardet-Biedl syndrome 17 skos:closeMatch Orphanet:110 Bardet-Biedl MONDO:0014446 Bardet-Biedl syndrome 18 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615995 MONDO:0014447 Bardet-Biedl syndrome 19 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615996 MONDO:0014448 hyperthyroxinemia, familial dysalbuminemic skos:closeMatch OMIM:615999 hyperthyroxinemia, familial dysalbuminemic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym euthyroid hyperthyroxinemia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym analbuminemia -MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616000 +MONDO:0014449 congenital analbuminemia skos:closeMatch OMIM:616000 analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia MONDO:0014449 congenital analbuminemia skos:closeMatch NCIT:C124851 Analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label analbuminemia +MONDO:0014449 congenital analbuminemia skos:closeMatch Orphanet:86816 Congenital analbuminemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616000 MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616001 -MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616002 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodysfibrinogenemia, congenital -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysfibrinogenemia, congenital -MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 +MONDO:0014451 focal segmental glomerulosclerosis 7 skos:closeMatch OMIM:616002 focal segmental glomerulosclerosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysfibrinogenemia, congenital +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysfibrinogenemia, congenital +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch OMIM:616004 dysfibrinogenemia, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypodysfibrinogenemia, congenital MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:248408 Familial hypodysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:335 Congenital fibrinogen deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 +MONDO:0014452 familial dysfibrinogenemia skos:closeMatch Orphanet:98881 Familial dysfibrinogenemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616004 MONDO:0014453 immunodeficiency 36 skos:closeMatch Orphanet:397596 Activated PI3K-delta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616005 MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616006 MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch OMIM:616007 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome skos:closeMatch Orphanet:436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616007 MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 -MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch OMIM:616022 neutropenia, severe congenital, 6, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 6, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch OMIM:616025 glycosylphosphatidylinositol biosynthesis defect 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 skos:closeMatch Orphanet:247262 Hyperphosphatasia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616025 MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young skos:closeMatch OMIM:616026 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frts4 with mody MONDO:0014459 Adams-Oliver syndrome 5 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616028 -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616029 -MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/short stature syndrome MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia/short stature syndrome +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch OMIM:616029 ectodermal dysplasia/short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia/short stature syndrome +MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome skos:closeMatch Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616029 MONDO:0014461 hypogonadotropic hypogonadism 22 with or without anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616030 MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch OMIM:616032 focal segmental glomerulosclerosis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014462 focal segmental glomerulosclerosis 8 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616032 -MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616034 MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857252 +MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency skos:closeMatch Orphanet:431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616034 MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch OMIM:616037 ciliary dyskinesia, primary, 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 30, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014465 primary ciliary dyskinesia 30 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616037 +MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch Orphanet:2671 Neu-Laxova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616038 -MONDO:0014466 Neu-Laxova syndrome 2 skos:closeMatch OMIM:616038 neu-laxova syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neu-laxova syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch OMIM:616039 charcot-marie-tooth disease, recessive intermediate d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder, recessive intermediate d semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D skos:closeMatch Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616039 MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 MONDO:0014468 congenital myasthenic syndrome 7 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616040 -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement -MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement +MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch OMIM:616042 deafness, autosomal recessive 103 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 103 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616042 -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616044 MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement +MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch OMIM:616044 deafness, autosomal dominant 65 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 65 semapv:RegularExpressionReplacement -MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616044 -MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex v deficiency MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label isolated atp synthase deficiency -MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with infantile enterocolitis +MONDO:0014471 mitochondrial proton-transporting ATP synthase complex deficiency skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated mitochondrial respiratory chain complex v deficiency MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch Orphanet:436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616050 MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with infantile enterocolitis +MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome skos:closeMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with infantile enterocolitis MONDO:0014473 microcephaly 13, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616051 MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U skos:closeMatch Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616052 -MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch OMIM:616053 spinocerebellar ataxia 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616053 MONDO:0014475 spinocerebellar ataxia type 40 skos:closeMatch Orphanet:423275 Spinocerebellar ataxia type 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 40 semapv:RegularExpressionReplacement -MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616055 MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label episodic ataxia with slurred speech +MONDO:0014476 episodic ataxia type 8 skos:closeMatch Orphanet:401953 Episodic ataxia with slurred speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616055 MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:exactMatch NCIT:C175047 Developmental and Epileptic Encephalopathy 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014477 developmental and epileptic encephalopathy, 26 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616056 MONDO:0014478 mirror movements 3 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616059 MONDO:0014479 porokeratosis 8, disseminated superficial actinic type skos:closeMatch Orphanet:79152 Disseminated superficial actinic porokeratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616063 MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal, zfpm2-related +MONDO:0014480 46,XY sex reversal 9 skos:closeMatch OMIM:616067 46,xy sex reversal 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014480 46,XY sex reversal 9 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616067 MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 skos:closeMatch Orphanet:294023 Neonatal inflammatory skin and bowel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616069 -MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616078 MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch OMIM:616078 intellectual developmental disorder, autosomal dominant 29 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014482 intellectual disability, autosomal dominant 29 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616078 MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch Orphanet:397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616079 MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies skos:closeMatch OMIM:616079 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities @@ -25924,115 +25930,115 @@ MONDO:0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell MONDO:0014484 microcephaly 12, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616080 MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch OMIM:616081 pontocerebellar hypoplasia, iia 1c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomyelination with spinal muscular atrophy and cerebellar hypoplasia -MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 +MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616083 MONDO:0014486 intellectual disability, autosomal dominant 30 skos:closeMatch OMIM:616083 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 30 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616084 -MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch OMIM:616084 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay +MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome skos:closeMatch Orphanet:369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616084 MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch OMIM:616094 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch Orphanet:438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616095 -MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 +MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency skos:closeMatch OMIM:616095 monocarboxylate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monocarboxylate transporter type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma and woolly hair MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch OMIM:616099 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair -MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616100 +MONDO:0014492 woolly hair-palmoplantar keratoderma syndrome skos:closeMatch Orphanet:420686 Woolly hair-palmoplantar keratoderma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch OMIM:616100 immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ctla4 haploinsufficiency with autoimmune infiltration +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency skos:closeMatch Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616100 MONDO:0014494 psoriasis 15, pustular, susceptibility to skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616106 -MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch Orphanet:436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616108 +MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome skos:closeMatch OMIM:616108 retinal dystrophy, juvenile cataracts, and short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy, juvenile cataracts, and short stature syndrome MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616111 MONDO:0014497 polyendocrine-polyneuropathy syndrome skos:closeMatch Orphanet:453533 Polyendocrine-polyneuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616113 MONDO:0014498 familial cold autoinflammatory syndrome 4 skos:closeMatch Orphanet:576349 NLRC4-related familial cold autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616115 -MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch OMIM:616116 intellectual developmental disorder, autosomal recessive 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt46 -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial atrial tachyarrhythmia-infra-hisian cardiac conduction disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616117 -MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014500 atrial conduction disease skos:closeMatch OMIM:616117 cardiac conduction disease with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac conduction disorder with or without dilated cardiomyopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616117 +MONDO:0014500 atrial conduction disease skos:closeMatch Orphanet:436242 Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial atrial tachyarrhythmia-infra-hisian cardiac conduction disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isg15 deficiency, autosomal recessive MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch OMIM:616126 immunodeficiency 38 with basal ganglia calcification semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 38 with basal ganglia calcification semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014502 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency skos:closeMatch Orphanet:319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616126 +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to cwf19l1 deficiency +MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616127 MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch OMIM:616127 spinocerebellar ataxia, autosomal recessive 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616127 -MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 skos:closeMatch Orphanet:453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive cerebellar ataxia due to cwf19l1 deficiency MONDO:0014504 Perrault syndrome 5 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616138 MONDO:0014505 developmental and epileptic encephalopathy, 27 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616139 MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch Orphanet:438114 RARS-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616140 MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014506 hypomyelinating leukodystrophy 9 skos:closeMatch OMIM:616140 leukodystrophy, hypomyelinating, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844887 -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with hyperphalangy and clinodactyly +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch Orphanet:1388 Catel-Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym index finger anomaly with pierre robin syndrome +MONDO:0014507 Catel-Manzke syndrome skos:closeMatch OMIM:616145 catel-manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pierre robin syndrome with hyperphalangy and clinodactyly MONDO:0014508 vitelliform macular dystrophy 4 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616151 MONDO:0014509 vitelliform macular dystrophy 5 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616152 -MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch Orphanet:438178 Fatty acyl-CoA reductase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch OMIM:616154 peroxisomal fatty acyl-coa reductase 1 disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peroxisomal fatty acyl-coa reductase type 1 disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S skos:closeMatch Orphanet:443073 Charcot-Marie-Tooth disease type 2S semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616155 -MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 -MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 +MONDO:0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation skos:closeMatch Orphanet:438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616158 MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171430 Severe congenital nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 +MONDO:0014513 nemaline myopathy 10 skos:closeMatch Orphanet:171436 Typical nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616165 +MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616166 MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:616166 aortic aneurysm, familial thoracic 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch OMIM:617168 aortic aneurysm, familial thoracic 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, thoracic, with or without aortic dissection -MONDO:0014514 aortic aneurysm, familial thoracic 9 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616166 MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014516 microcephaly and chorioretinopathy 2 skos:closeMatch OMIM:616171 microcephaly and chorioretinopathy, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 skos:closeMatch Orphanet:36387 Generalized epilepsy with febrile seizures-plus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616172 +MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616176 MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch OMIM:616176 bleeding disorder, platelet-type, 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014518 platelet-type bleeding disorder 19 skos:closeMatch Orphanet:438207 Severe autosomal recessive macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616176 MONDO:0014519 chronic mountain sickness, susceptibility to skos:closeMatch OMIM:616182 chronic mountain sickness, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monge disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616185 -MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616187 +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch OMIM:616185 ovarian dysgenesis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome skos:closeMatch Orphanet:444048 46,XX ovarian dysgenesis-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616185 MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch NCIT:C142804 Epilepsy, Progressive Myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch Orphanet:435438 Progressive myoclonic epilepsy type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616187 +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014521 progressive myoclonic epilepsy type 7 skos:closeMatch OMIM:616187 epilepsy, progressive myoclonic 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014522 retinal dystrophy and obesity skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616188 MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch OMIM:616192 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome skos:closeMatch Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616192 -MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt47 MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch OMIM:616193 intellectual developmental disorder, autosomal recessive 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt47 MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616198 MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch Orphanet:444013 Combined oxidative phosphorylation defect type 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616198 +MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:closeMatch OMIM:616198 combined oxidative phosphorylation deficiency 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014525 combined oxidative phosphorylation defect type 23 skos:exactMatch NCIT:C187986 Combined Oxidative Phosphorylation Deficiency 23 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 23 semapv:RegularExpressionReplacement +MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch Orphanet:456369 Polyglucosan body myopathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616199 -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014526 polyglucosan body myopathy type 2 skos:closeMatch OMIM:616199 polyglucosan body myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyglucosan body myopathy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome +MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616200 MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch OMIM:616200 ruijs-aalfs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ruijs-aalfs syndrome -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616200 -MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome skos:closeMatch Orphanet:435953 Progeroid features-hepatocellular carcinoma predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ruijs-aalfs syndrome -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caid -MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic atrial and intestinal dysrhythmia syndrome MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616201 -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome +MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic atrial and intestinal dysrhythmia syndrome +MONDO:0014528 chronic atrial and intestinal dysrhythmia skos:closeMatch OMIM:616201 chronic atrial and intestinal dysrhythmia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caid MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616202 -MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome +MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch Orphanet:444072 Cerebellar-facial-dental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellofaciodental syndrome -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014529 cerebellar-facial-dental syndrome skos:closeMatch OMIM:616202 cerebellofaciodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellofaciodental syndrome MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch OMIM:616204 spinocerebellar ataxia, autosomal recessive 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive congenital cerebellar ataxia due to grid2 deficiency +MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 skos:closeMatch Orphanet:363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616204 MONDO:0014531 amyotrophic lateral sclerosis type 22 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616208 MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance skos:closeMatch OMIM:616209 myopathy, isolated mitochondrial, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, isolated mitochondrial, autosomal dominant @@ -26046,74 +26052,74 @@ MONDO:0014536 thrombocytopenia 5 skos:closeMatch Orphanet:71290 Familial platele MONDO:0014537 nephronophthisis 19 skos:closeMatch Orphanet:84081 Senior-Boichis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616217 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:91411 Congenital ptosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 -MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616220 MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch OMIM:616220 focal segmental glomerulosclerosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulosclerosis, focal segmental, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 -MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 +MONDO:0014539 focal segmental glomerulosclerosis 9 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616220 MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100032 Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 +MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 +MONDO:0014540 amelogenesis imperfecta type 1H skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616221 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym temple syndrome -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch OMIM:616222 temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label temple syndrome MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254516 Temple syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254531 Temple syndrome due to paternal 14q32.2 hypomethylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect skos:closeMatch Orphanet:96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616222 -MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, without tubular aggregates MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch OMIM:616227 myasthenic syndrome, congenital, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014542 congenital myasthenic syndrome 15 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616227 MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, with tubular aggregates type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch OMIM:616228 myasthenic syndrome, congenital, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:353327 Congenital myasthenic syndromes with glycosylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 MONDO:0014543 congenital myasthenic syndrome 14 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616228 +MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome, type 91.3-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:216812 Osteogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616229 -MONDO:0014544 osteogenesis imperfecta type 16 skos:closeMatch OMIM:616229 osteogenesis imperfecta, iia 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 11p11.2 deletion syndrome, type 91.3-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616230 MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch Orphanet:424027 Progressive myoclonic epilepsy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616230 MONDO:0014545 progressive myoclonic epilepsy type 8 skos:closeMatch OMIM:616230 epilepsy, progressive myoclonic, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616231 -MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, vacuolar, with casq1 aggregates MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, vacuolar, with casq1 aggregates +MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload skos:closeMatch OMIM:616231 myopathy, vacuolar, with casq1 aggregates semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, vacuolar, with casq1 aggregates MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch OMIM:616239 combined oxidative phosphorylation deficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014547 combined oxidative phosphorylation defect type 24 skos:closeMatch Orphanet:444458 Combined oxidative phosphorylation defect type 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616239 -MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 +MONDO:0014548 long QT syndrome 14 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616247 MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 MONDO:0014550 long QT syndrome 15 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616249 -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 -MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 +MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch Orphanet:439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616258 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome skos:closeMatch OMIM:616258 meckel syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meckel syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tenorio syndrome MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym overgrowth, macrocephaly, and intellectual disability syndrome +MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tenorio syndrome MONDO:0014553 Tenorio syndrome skos:closeMatch OMIM:616260 tenorio syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenorio syndrome -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 -MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 -MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 +MONDO:0014555 peeling skin syndrome type A skos:closeMatch OMIM:616265 peeling skin syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 +MONDO:0014555 peeling skin syndrome type A skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616265 MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 +MONDO:0014556 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616266 MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch OMIM:616267 ataxia-oculomotor apraxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616267 +MONDO:0014557 ataxia - oculomotor apraxia type 4 skos:closeMatch Orphanet:459033 Ataxia-oculomotor apraxia type 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia-oculomotor apraxia type 4 semapv:RegularExpressionReplacement MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome skos:closeMatch Orphanet:457193 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616268 -MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch OMIM:616269 intellectual developmental disorder, autosomal recessive 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt48 +MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch Orphanet:457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 MONDO:0014560 amelogenesis imperfecta type 1F skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616270 -MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616276 -MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch OMIM:616276 coenzyme Q10 deficiency, primary, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coenzyme q10 deficiency, primary, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome skos:closeMatch Orphanet:457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616276 MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch OMIM:616277 mitochondrial short-chain enoyl-coa hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616277 MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014564 congenital bile acid synthesis defect 5 skos:closeMatch OMIM:616278 bile acid synthesis defect, congenital, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bile acid synthesis defect, congenital, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -26129,75 +26135,75 @@ MONDO:0014571 optic atrophy 9 skos:closeMatch Orphanet:98676 Autosomal recessive MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch OMIM:616291 lichtenstein-knorr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive autosomal recessive ataxia-deafness syndrome MONDO:0014572 Lichtenstein-Knorr syndrome skos:closeMatch Orphanet:448251 Progressive autosomal recessive ataxia-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616291 -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616294 +MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014573 Cole-Carpenter syndrome 2 skos:closeMatch OMIM:616294 cole-carpenter syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cole-carpenter syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads -MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plack MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads +MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch OMIM:616295 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym plack MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome skos:closeMatch Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616295 MONDO:0014575 Singleton-Merten syndrome 2 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616298 MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616299 MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch OMIM:616299 lipoyltransferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoyltransferase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014576 lipoyl transferase 1 deficiency skos:closeMatch Orphanet:401862 Lipoyl transferase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616299 MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616300 MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 -MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch OMIM:616304 myasthenic syndrome, congenital, 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014578 congenital myasthenic syndrome 17 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616304 MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616307 MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014579 Senior-Loken syndrome 8 skos:closeMatch OMIM:616307 senior-loken syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym senior-loken syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616311 MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch OMIM:616311 intellectual developmental disorder, autosomal dominant 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014580 intellectual disability, autosomal dominant 33 skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616311 MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch OMIM:616313 myasthenic syndrome, congenital, 2a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014581 congenital myasthenic syndrome 2A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616313 MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616314 -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014582 congenital myasthenic syndrome 2C skos:closeMatch OMIM:616314 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 2c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616321 -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 -MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 +MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014583 congenital myasthenic syndrome 3A skos:closeMatch OMIM:616321 myasthenic syndrome, congenital, 3a, slow-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3a, slow-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch OMIM:616322 myasthenic syndrome, congenital, 3b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 +MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 +MONDO:0014584 congenital myasthenic syndrome 3B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616322 MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch OMIM:616323 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 3c, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 MONDO:0014585 congenital myasthenic syndrome 3C skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616323 MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch OMIM:616324 myasthenic syndrome, congenital, 4b, fast-channel semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 4b, fast-channel semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 +MONDO:0014586 congenital myasthenic syndrome 4B skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616324 MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch OMIM:616325 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014587 congenital myasthenic syndrome 9 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616325 MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ie, formerly -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, ie, formerly +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch NCIT:C177546 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 -MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616326 +MONDO:0014588 congenital myasthenic syndrome 11 skos:closeMatch OMIM:616326 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cms ie, formerly MONDO:0014589 maturity-onset diabetes of the young type 13 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616329 -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18, with intellectual disability and ataxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616330 -MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 +MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014590 congenital myasthenic syndrome 18 skos:closeMatch OMIM:616330 myasthenic syndrome, congenital, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 18, with intellectual disability and ataxia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch OMIM:616331 robinow syndrome, autosomal dominant 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal dominant type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 MONDO:0014591 autosomal dominant Robinow syndrome 2 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616331 -MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616335 +MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014592 microcephaly and chorioretinopathy 3 skos:closeMatch OMIM:616335 microcephaly and chorioretinopathy, autosomal recessive, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly and chorioretinopathy, autosomal recessive, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014593 developmental and epileptic encephalopathy, 29 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616339 MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -26205,128 +26211,128 @@ MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch Or MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 skos:closeMatch OMIM:616340 deafness, autosomal dominant 67 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 67 semapv:RegularExpressionReplacement -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 -MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 +MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 +MONDO:0014595 developmental and epileptic encephalopathy, 30 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616341 +MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:exactMatch NCIT:C185237 Developmental and Epileptic Encephalopathy 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616346 -MONDO:0014598 developmental and epileptic encephalopathy, 31 skos:exactMatch NCIT:C185237 Developmental and Epileptic Encephalopathy 31 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 31 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014599 intellectual disability, autosomal dominant 34 skos:closeMatch OMIM:616351 intellectual developmental disorder, autosomal dominant 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 -MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome +MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616353 MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616354 +MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch Orphanet:397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 skos:closeMatch OMIM:616354 spinocerebellar ataxia, autosomal recessive 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch OMIM:616355 intellectual developmental disorder, autosomal dominant 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch Orphanet:457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616355 -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement +MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome skos:closeMatch OMIM:616355 intellectual developmental disorder, autosomal dominant 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616357 MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch OMIM:616357 deafness, autosomal dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 40 semapv:RegularExpressionReplacement -MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616357 MONDO:0014604 Parkinson disease 21 skos:closeMatch Orphanet:411602 Hereditary late-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616361 -MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616362 MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch OMIM:616362 intellectual developmental disorder, autosomal dominant 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616364 +MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome skos:closeMatch Orphanet:457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616362 MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym white-sutton syndrome MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch OMIM:616364 white-sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome -MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616366 +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white-sutton syndrome +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome skos:closeMatch Orphanet:468678 White-Sutton syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616364 MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:exactMatch NCIT:C155998 Developmental and Epileptic Encephalopathy 32 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014607 developmental and epileptic encephalopathy, 32 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616366 MONDO:0014608 mandibulofacial dysostosis with alopecia skos:closeMatch Orphanet:443995 Mandibulofacial dysostosis with alopecia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616367 -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch OMIM:616368 chops syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch Orphanet:444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616368 +MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome skos:closeMatch OMIM:616368 chops syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 skos:closeMatch Orphanet:457406 Multiple mitochondrial dysfunctions syndrome type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616370 -MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch OMIM:616371 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 -MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616371 MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch OMIM:616373 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616373 MONDO:0014614 congenital stationary night blindness 1G skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616389 MONDO:0014615 trichothiodystrophy 2, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616390 MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch OMIM:616393 intellectual developmental disorder, autosomal dominant 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014617 intellectual disability, autosomal dominant 38 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616393 MONDO:0014618 retinitis pigmentosa 71 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616394 -MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch OMIM:616395 trichothiodystrophy 3, photosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, complementation group a +MONDO:0014619 trichothiodystrophy 3, photosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616395 MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616398 MONDO:0014620 myoclonic dystonia 26 skos:closeMatch OMIM:616398 dystonia 26, myoclonic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 26, myoclonic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014620 myoclonic dystonia 26 skos:closeMatch Orphanet:36899 Myoclonus-dystonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616398 MONDO:0014621 Brugada syndrome 9 skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616399 +MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch Orphanet:448264 Isolated focal non-epidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch OMIM:616400 palmoplantar keratoderma, nonepidermolytic, focal 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym palmoplantar keratoderma, nonepidermolytic, focal type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014623 microcephaly 14, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616402 MONDO:0014625 developmental and epileptic encephalopathy, 33 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616409 -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616410 MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement -MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch Orphanet:458798 Spinocerebellar ataxia type 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616410 MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616411 +MONDO:0014626 spinocerebellar ataxia type 41 skos:closeMatch OMIM:616410 spinocerebellar ataxia 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary dystonia, dyt27 type +MONDO:0014627 dystonia 27 skos:closeMatch Orphanet:464440 Primary dystonia, DYT27 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616411 MONDO:0014628 basal ganglia calcification, idiopathic, 6 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616413 +MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch Orphanet:444092 Autoimmune interstitial lung disease-arthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 MONDO:0014630 familial adenomatous polyposis 3 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616415 MONDO:0014631 hypomagnesemia, seizures, and intellectual disability skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym homgsmr +MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616420 MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014632 hypomyelinating leukodystrophy 10 skos:closeMatch Orphanet:481152 PYCR2-related microcephaly-progressive leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616420 -MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myoclonic-atonic epilepsy MONDO:0014633 myoclonic-atonic epilepsy skos:exactMatch NCIT:C165674 Myoclonic-Atonic Epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myoclonic-atonic epilepsy MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616421 MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae +MONDO:0014633 myoclonic-atonic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae +MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 17q24 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch OMIM:616425 46,xy sex reversal 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xy sex reversal type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014634 46,XY sex reversal 10 skos:closeMatch Orphanet:251510 46,XY partial gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616425 MONDO:0014635 microphthalmia, isolated, with coloboma 10 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616428 -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616430 MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch Orphanet:447954 Combined oxidative phosphorylation defect type 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616430 +MONDO:0014636 combined oxidative phosphorylation defect type 25 skos:closeMatch OMIM:616430 combined oxidative phosphorylation deficiency 25 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 25 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014637 DOCK2 deficiency skos:closeMatch Orphanet:447737 DOCK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 MONDO:0014637 DOCK2 deficiency skos:closeMatch OMIM:616433 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group t MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group t +MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch OMIM:616435 fanconi anemia, complementation group t semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group t MONDO:0014638 Fanconi anemia complementation group T skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616435 -MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch OMIM:616436 epilepsy, familial temporal lobe, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014639 familial temporal lobe epilepsy 7 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616436 -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 -MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 +MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 skos:closeMatch Orphanet:275864 Behavioral variant of frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616437 MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616439 MONDO:0014642 candidiasis, familial, 9 skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616445 -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basel-vanagaite-smirin-yosef syndrome -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616449 +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch Orphanet:464738 Basel-Vanagaite-Smirin-Yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basel-vanagaite-smirin-yosef syndrome +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome skos:closeMatch OMIM:616449 basel-vanagaite-smirin-yosef syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basel-vanagaite-smirin-yosef syndrome MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616451 MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch Orphanet:468661 Autosomal recessive spastic paraplegia type 74 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 74 MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014644 hereditary spastic paraplegia 74 skos:closeMatch OMIM:616451 spastic paraplegia 74, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 74, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy -MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell expansion with nfkb and t-cell anergy MONDO:0014645 BENTA disease skos:closeMatch Orphanet:464336 BENTA disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616452 MONDO:0014645 BENTA disease skos:closeMatch NCIT:C176791 B-Cell Expansion with NFKB and T-Cell Anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy +MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label b-cell expansion with nfkb and t-cell anergy +MONDO:0014645 BENTA disease skos:closeMatch OMIM:616452 b-cell expansion with nfkb and t-cell anergy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b-cell expansion with nfkb and t-cell anergy MONDO:0014646 Zimmermann-Laband syndrome 2 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616455 MONDO:0014647 developmental and epileptic encephalopathy, 50 skos:closeMatch Orphanet:448010 CAD-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616457 -MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-raqad syndrome MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al-raqad syndrome +MONDO:0014648 Al-Raqad syndrome skos:closeMatch OMIM:616459 al-raqad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al-raqad syndrome MONDO:0014648 Al-Raqad syndrome skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616459 -MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt50 +MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch OMIM:616460 intellectual developmental disorder, autosomal recessive 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616461 MONDO:0014650 familial temporal lobe epilepsy 8 skos:closeMatch OMIM:616461 epilepsy, familial temporal lobe, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial temporal lobe, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -26335,84 +26341,84 @@ MONDO:0014651 acrofacial dysostosis Cincinnati type skos:closeMatch Orphanet:120 MONDO:0014652 exudative vitreoretinopathy 6 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616468 MONDO:0014653 retinitis pigmentosa 72 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616469 MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch Orphanet:75840 Congenital muscular dystrophy, Ullrich type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616470 -MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616479 -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 +MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 skos:closeMatch OMIM:616479 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 32, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616481 +MONDO:0014657 primary ciliary dyskinesia 32 skos:closeMatch OMIM:616481 ciliary dyskinesia, primary, 32 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 32 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616482 MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym achondroplasia, severe, with developmental delay and acanthosis nigricans MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch OMIM:616482 achondroplasia, severe, with developmental delay and acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label achondroplasia, severe, with developmental delay and acanthosis nigricans -MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome skos:closeMatch Orphanet:85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616482 MONDO:0014659 infantile liver failure syndrome 2 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616483 MONDO:0014660 microcephaly 15, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616486 -MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch Orphanet:478664 Hereditary sensory and autonomic neuropathy type 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616488 -MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 +MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome skos:closeMatch OMIM:616488 neuropathy, hereditary sensory and autonomic, iia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hsan type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 +MONDO:0014663 Silver-Russell syndrome 3 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616489 MONDO:0014664 Joubert syndrome 23 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616490 MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V skos:closeMatch Orphanet:447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616491 -MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616494 MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch OMIM:616494 leukodystrophy, hypomyelinating, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014666 hypomyelinating leukodystrophy 11 skos:closeMatch Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616494 MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616500 MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616501 MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616502 -MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:614500 cone-rod dystrophy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement +MONDO:0014669 cone-rod dystrophy 21 skos:closeMatch OMIM:616502 cone-rod dystrophy 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy with early macular involvement MONDO:0014671 neuropathy, hereditary motor and sensory, type 6B skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616505 MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:216820 Osteogenesis imperfecta type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 MONDO:0014672 osteogenesis imperfecta type 17 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616507 -MONDO:0014673 cataract 44 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 MONDO:0014673 cataract 44 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 +MONDO:0014673 cataract 44 skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616509 MONDO:0014674 maturity-onset diabetes of the young type 14 skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616511 +MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement -MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch OMIM:616515 deafness, autosomal recessive 104 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 104 semapv:RegularExpressionReplacement MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616515 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch OMIM:616516 emery-dreifuss muscular dystrophy 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616516 +MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 MONDO:0014677 achromatopsia 7 skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616517 MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616521 +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014678 intellectual disability, autosomal dominant 39 skos:exactMatch NCIT:C156309 Mental Retardation, Autosomal Dominant 39 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 39 semapv:RegularExpressionReplacement +MONDO:0014678 intellectual disability, autosomal dominant 39 skos:closeMatch OMIM:616521 intellectual developmental disorder, autosomal dominant 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 2p25.3 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:98889 Bilateral perisylvian polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 MONDO:0014679 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis skos:closeMatch Orphanet:268940 Bilateral polymicrogyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616531 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616532 -MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 skos:closeMatch OMIM:616532 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014681 thyroid cancer, nonmedullary, 4 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616534 MONDO:0014682 thyroid cancer, nonmedullary, 5 skos:closeMatch Orphanet:319487 Familial papillary or follicular thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616535 -MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch OMIM:616538 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), iia a, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym walker-warburg syndrome or muscle-eye brain disorder, dag1-related semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 +MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616538 MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch Orphanet:477684 Combined oxidative phosphorylation defect type 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616539 MONDO:0014684 combined oxidative phosphorylation defect type 26 skos:closeMatch OMIM:616539 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 26 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch Orphanet:457265 Progressive myoclonic epilepsy type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616540 +MONDO:0014685 progressive myoclonic epilepsy type 9 skos:closeMatch OMIM:616540 epilepsy, progressive myoclonic, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, progressive myoclonic, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014686 short stature, microcephaly, and endocrine dysfunction skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616541 MONDO:0014687 retinitis pigmentosa 73 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616544 MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly skos:closeMatch Orphanet:397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616546 -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch OMIM:616549 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym klippel-feil syndrome type 4, autosomal recessive, with nemaline myopathy and facial dysmorphism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome skos:closeMatch Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616549 MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:397692 Hereditary isolated aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 -MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch OMIM:616553 dyskeratosis congenita, autosomal dominant 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616553 MONDO:0014691 Noonan syndrome 9 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616559 MONDO:0014692 retinitis pigmentosa 74 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616562 MONDO:0014693 Noonan syndrome 10 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616564 @@ -26421,19 +26427,19 @@ MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251627 Oligodendr MONDO:0014695 glioma susceptibility 9 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616568 MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 MONDO:0014696 cerebrooculofacioskeletal syndrome 3 skos:closeMatch Orphanet:1466 COFS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616570 -MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfkb1 deficiency MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 -MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616577 +MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch OMIM:616576 immunodeficiency, common variable, 12, with autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nfkb1 deficiency MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch OMIM:616577 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, hearing loss, and mental retardation syndrome -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement -MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome skos:closeMatch Orphanet:457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616577 MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616579 +MONDO:0014699 intellectual disability, autosomal dominant 40 skos:closeMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014699 intellectual disability, autosomal dominant 40 skos:exactMatch NCIT:C163754 Mental Retardation, Autosomal Dominant 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, autosomal dominant type 40 semapv:RegularExpressionReplacement +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 +MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch OMIM:616580 au-kline syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label au-kline syndrome MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:exactMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym au-kline syndrome -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym au-kline syndrome -MONDO:0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation skos:closeMatch Orphanet:453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616580 MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch Orphanet:459051 Spondyloepiphyseal dysplasia, Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616583 MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch OMIM:616586 spastic paraplegia 9b, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 9b, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B skos:closeMatch Orphanet:447760 Autosomal recessive spastic paraplegia type 9B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616586 @@ -26443,18 +26449,18 @@ MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-whi MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome skos:closeMatch Orphanet:477831 Kosaki overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616592 MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:35099 Non-syndromic bicoronal craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 MONDO:0014706 cutis laxa, autosomal dominant 3 skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616603 -MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myeloproliferative neoplasms, familial, susceptibility to MONDO:0014707 14q32 duplication syndrome skos:closeMatch Orphanet:488280 14q32 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616604 -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014707 14q32 duplication syndrome skos:closeMatch OMIM:616604 chromosome 14q32 duplication syndrome, 700-kb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 duplication syndrome, type 700-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch NCIT:C185638 Ring Chromosome 14 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 -MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535487 -MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616606 MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch OMIM:616606 ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616606 +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014708 ring chromosome 14 skos:closeMatch Orphanet:1440 Ring chromosome 14 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 14 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch Orphanet:477857 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616622 MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W skos:closeMatch Orphanet:488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616625 MONDO:0014712 Senior-Loken syndrome 9 skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616629 @@ -26463,107 +26469,107 @@ MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, cortical blindness, and microcephaly syndrome MONDO:0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome skos:closeMatch OMIM:616632 seizures, cortical blindness, and microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, cortical blindness, and microcephaly syndrome MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616636 -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616638 MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-kingsmore syndrome +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smith-kingsmore syndrome -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616638 +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome skos:closeMatch OMIM:616638 smith-kingsmore syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-kingsmore syndrome MONDO:0014717 early-onset Lafora body disease skos:closeMatch Orphanet:324290 Early-onset Lafora body disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616640 MONDO:0014718 developmental and epileptic encephalopathy, 34 skos:closeMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616645 MONDO:0014719 developmental and epileptic encephalopathy, 35 skos:closeMatch Orphanet:457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616647 MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label optic atrophy type 8 semapv:RegularExpressionReplacement MONDO:0014720 autosomal dominant optic atrophy plus syndrome skos:exactMatch OMIM:616648 optic atrophy 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym optic atrophy type 8 semapv:RegularExpressionReplacement -MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency -MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman syndrome -MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846059 MONDO:0014722 Roifman syndrome skos:closeMatch Orphanet:353298 Roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616651 -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616652 -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome +MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym roifman syndrome +MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label roifman syndrome +MONDO:0014722 Roifman syndrome skos:closeMatch OMIM:616651 roifman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label yuan-harel-lupski syndrome MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch OMIM:616652 yuan-harel-lupski syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym yuan-harel-lupski syndrome +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome skos:closeMatch Orphanet:477817 PMP22-RAI1 contiguous gene duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616652 MONDO:0014724 Joubert syndrome 24 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616654 -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia, thin corpus callosum, and progressive microcephaly -MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616657 -MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616668 +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia, thin corpus callosum, and progressive microcephaly +MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome skos:closeMatch OMIM:616657 spastic tetraplegia, thin corpus callosum, and progressive microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia, thin corpus callosum, and progressive microcephaly MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive charcot-marie-tooth disorder type 2x semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X skos:closeMatch Orphanet:466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616668 MONDO:0014727 immunodeficiency 45 skos:closeMatch Orphanet:431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616669 -MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616672 MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 semapv:RegularExpressionReplacement MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:exactMatch NCIT:C185238 Combined Oxidative Phosphorylation Deficiency 27 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label combined oxidative phosphorylation deficiency type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014728 combined oxidative phosphorylation defect type 27 skos:closeMatch Orphanet:477774 Combined oxidative phosphorylation defect type 27 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616672 MONDO:0014729 hereditary spastic paraplegia 75 skos:closeMatch Orphanet:459056 Autosomal recessive spastic paraplegia type 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616680 MONDO:0014730 microcephaly 16, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616681 MONDO:0014731 seizures-scoliosis-macrocephaly syndrome skos:closeMatch Orphanet:466926 Seizures-scoliosis-macrocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616682 -MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vps11-related autosomal recessive hypomyelinating leukodystrophy MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616683 +MONDO:0014732 hypomyelinating leukodystrophy 12 skos:closeMatch Orphanet:466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vps11-related autosomal recessive hypomyelinating leukodystrophy MONDO:0014733 Charcot-Marie-Tooth disease type 4K skos:closeMatch Orphanet:391351 SURF1-related Charcot-Marie-Tooth disease type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616684 -MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616687 +MONDO:0014735 Charcot-Marie-Tooth disease type 2Y skos:closeMatch Orphanet:435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2y semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2z semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z skos:closeMatch Orphanet:466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616688 -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis gardos -MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis gardos MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch Orphanet:3202 Dehydrated hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616689 -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616697 -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xerocytosis gardos +MONDO:0014737 dehydrated hereditary stomatocytosis 2 skos:closeMatch OMIM:616689 dehydrated hereditary stomatocytosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym desiccytosis gardos MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, congenital, unilateral or asymmetric +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch OMIM:616697 deafness, autosomal dominant 69 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616697 MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616705 -MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement +MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 skos:closeMatch OMIM:616705 deafness, autosomal recessive 97 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 97 semapv:RegularExpressionReplacement +MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616707 MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement -MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616707 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 -MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities +MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 skos:closeMatch OMIM:616707 deafness, autosomal dominant 68 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 10p12-p11 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities +MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation skos:closeMatch Orphanet:466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616708 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 MONDO:0014743 rhizomelic chondrodysplasia punctata type 5 skos:closeMatch Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616716 -MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616719 MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive spinocerebellar ataxia type 21 semapv:RegularExpressionReplacement MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch OMIM:616719 spinocerebellar ataxia, autosomal recessive 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 21, with hepatopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 +MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome skos:closeMatch Orphanet:466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616719 MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 +MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 MONDO:0014745 congenital myasthenic syndrome 19 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616720 -MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616721 MONDO:0014746 SLC39A8-CDG skos:closeMatch OMIM:616721 congenital disorder of glycosylation, iia iin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iin +MONDO:0014746 SLC39A8-CDG skos:closeMatch Orphanet:468699 SLC39A8-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616721 +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616722 MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal dystrophy and iris coloboma with or without congenital cataract MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch OMIM:616722 retinal dystrophy and iris coloboma with or without congenital cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal dystrophy and iris coloboma with or without congenital cataract -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome skos:closeMatch Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616722 -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch Orphanet:457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616723 +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome skos:closeMatch OMIM:616723 spondyloepimetaphyseal dysplasia, faden-alkuraya iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis MONDO:0014749 tooth agenesis, selective, 7 skos:closeMatch Orphanet:99798 Oligodontia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616724 MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch OMIM:616726 ciliary dyskinesia, primary, 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 33, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014750 primary ciliary dyskinesia 33 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616726 +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616728 +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, psychomotor retardation, and distinctive facial features MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft palate, psychomotor retardation, and distinctive facial features -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch OMIM:616728 cleft palate, psychomotor retardation, and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cleft palate, psychomotor retardation, and distinctive facial features -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome skos:closeMatch Orphanet:477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616728 MONDO:0014752 nephrotic syndrome, type 11 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616730 MONDO:0014753 autosomal recessive optic atrophy skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive isolated optic atrophy MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616734 MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616737 MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia and mental retardation syndrome -MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label takenouchi-kosaki syndrome MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym takenouchi-kosaki syndrome +MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome skos:closeMatch OMIM:616737 takenouchi-kosaki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label takenouchi-kosaki syndrome MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616738 MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616739 MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined immunodeficiency due to tfrc deficiency MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch Orphanet:476113 Combined immunodeficiency due to TFRC deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 MONDO:0014762 heterotaxy, visceral, 7, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616749 MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia and psychomotor retardation with or without seizures -MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616756 MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch OMIM:616756 spastic paraplegia and psychomotor retardation with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia and psychomotor retardation with or without seizures +MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome skos:closeMatch Orphanet:464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616756 MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616760 MONDO:0014765 woolly hair, autosomal recessive 3 skos:closeMatch OMIM:616760 woolly hair, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym woolly hair, autosomal recessive type 3, with hypotrichosis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014766 leukodystrophy and acquired microcephaly with or without dystonia; skos:closeMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy and acquired microcephaly with or without dystonia @@ -26588,20 +26594,20 @@ MONDO:0014781 combined oxidative phosphorylation deficiency 29 skos:closeMatch O MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X skos:closeMatch Orphanet:476084 BVES-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616812 MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome skos:closeMatch Orphanet:467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616816 MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 skos:closeMatch Orphanet:391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616817 -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616819 -MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-flusser syndrome MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch OMIM:616819 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia +MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome skos:closeMatch Orphanet:466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616819 MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W skos:closeMatch Orphanet:466801 LIMS2-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616827 MONDO:0014789 CCDC115-CDG skos:closeMatch OMIM:616828 congenital disorder of glycosylation, iia iio semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iio MONDO:0014789 CCDC115-CDG skos:closeMatch Orphanet:468684 CCDC115-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616828 -MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616829 MONDO:0014790 TMEM199-CDG skos:closeMatch OMIM:616829 congenital disorder of glycosylation, iia iip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iip -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616834 +MONDO:0014790 TMEM199-CDG skos:closeMatch Orphanet:466703 TMEM199-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616829 MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch OMIM:616834 microcephaly, congenital cataract, and psoriasiform dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sc4mol deficiency -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome skos:closeMatch Orphanet:488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616834 MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616835 +MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014794 Meier-Gorlin syndrome 6 skos:closeMatch OMIM:616835 meier-gorlin syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meier-gorlin syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 skos:closeMatch Orphanet:2828 Young-onset Parkinson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616840 MONDO:0014797 lymphatic malformation 6 skos:closeMatch OMIM:616843 lymphatic malformation 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou MONDO:0014797 lymphatic malformation 6 skos:closeMatch Orphanet:568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou @@ -26619,33 +26625,33 @@ MONDO:0014805 Hao-Fountain syndrome skos:closeMatch OMIM:616863 hao-fountain syn MONDO:0014805 Hao-Fountain syndrome skos:closeMatch Orphanet:500055 16p13.2 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616863 MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616866 MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 skos:closeMatch Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616867 -MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, congenital sodium MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch Orphanet:103908 Congenital sodium diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616868 +MONDO:0014808 congenital secretory sodium diarrhea 8 skos:closeMatch OMIM:616868 diarrhea 8, secretory sodium, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, congenital sodium MONDO:0014809 DDX41-related hematologic malignancy predisposition syndrome skos:closeMatch Orphanet:488647 DDX41-related hematologic malignancy predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616871 MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch Orphanet:317473 Pancytopenia due to IKZF1 mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616873 -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy, visual impairment, and psychomotor retardation -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch Orphanet:480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 +MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation +MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch OMIM:616875 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy, visual impairment, and psychomotor retardation MONDO:0014813 hypomyelinating leukodystrophy 13 skos:closeMatch Orphanet:495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616881 MONDO:0014814 advanced sleep phase syndrome 3 skos:closeMatch Orphanet:164736 Familial advanced sleep-phase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616882 MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616887 MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome skos:closeMatch Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616890 MONDO:0014817 nephrotic syndrome, type 12 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616892 MONDO:0014818 nephrotic syndrome, type 13 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616893 -MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 +MONDO:0014819 autosomal dominant Robinow syndrome 3 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616894 MONDO:0014821 complex lethal osteochondrodysplasia skos:closeMatch Orphanet:457378 Complex lethal osteochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616897 MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616898 MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch OMIM:616898 chromosome 15q14 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q14 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014822 15q14 microdeletion syndrome skos:closeMatch Orphanet:261190 15q14 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616898 MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 skos:closeMatch Orphanet:488632 TBCK-related intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616900 MONDO:0014827 autosomal recessive spastic paraplegia type 76 skos:closeMatch Orphanet:488594 Autosomal recessive spastic paraplegia type 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616907 MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616910 MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 skos:closeMatch OMIM:616910 immunodeficiency-centromeric instability-facial anomalies syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch Orphanet:2268 ICF syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616911 +MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 skos:closeMatch OMIM:616911 immunodeficiency-centromeric instability-facial anomalies syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency-centromeric instability-facial anomalies syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014830 platelet-type bleeding disorder 20 skos:closeMatch Orphanet:466806 Autosomal dominant thrombocytopenia with platelet secretion defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616913 MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfan-progeroid-lipodystrophy syndrome MONDO:0014831 progeroid and marfanoid aspect-lipodystrophy syndrome skos:closeMatch OMIM:616914 marfanoid-progeroid-lipodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marfanoid-progeroid syndrome @@ -26665,46 +26671,46 @@ MONDO:0014846 autosomal recessive cerebellar ataxia - epilepsy - intellectual di MONDO:0014847 spermatogenic failure 15 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616950 MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder skos:closeMatch Orphanet:488642 TELO2-related intellectual disability-neurodevelopmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616954 MONDO:0014851 hypercalcemia, infantile, 2 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616963 -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 -MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch OMIM:616968 deafness, autosomal dominant 70 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 70 semapv:RegularExpressionReplacement +MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616968 MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement -MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement +MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch OMIM:616969 deafness, autosomal dominant 66 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 66 semapv:RegularExpressionReplacement MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616969 MONDO:0014855 intellectual disability, autosomal dominant 42 skos:closeMatch Orphanet:488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616973 MONDO:0014856 combined oxidative phosphorylation defect type 30 skos:closeMatch Orphanet:478042 Combined oxidative phosphorylation defect type 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616974 MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:494344 RERE-related neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 MONDO:0014857 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart skos:closeMatch Orphanet:1606 1p36 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616975 MONDO:0014858 intellectual disability, autosomal dominant 43 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616977 -MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014860 polycystic liver disease 2 skos:closeMatch Orphanet:2924 Isolated polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 +MONDO:0014860 polycystic liver disease 2 skos:closeMatch OMIM:617004 polycystic liver disease 2 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic liver disorder type 2 with or without kidney cysts semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617008 MONDO:0014863 macrocephaly, dysmorphic facies, and psychomotor retardation skos:closeMatch Orphanet:457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617011 MONDO:0014864 hypermanganesemia with dystonia 2 skos:closeMatch Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617013 +MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch OMIM:617014 neutropenia, severe congenital, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch Orphanet:420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar-cmt2t -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disorder type 2t semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive axonal charcot-marie-tooth disorder type 2t semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:495274 Charcot-Marie-Tooth disease type 2T semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar-cmt2t MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:497764 Spinocerebellar ataxia type 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617017 -MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T skos:closeMatch Orphanet:443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dnajb2-related charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014868 developmental and epileptic encephalopathy, 38 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617020 MONDO:0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome skos:closeMatch Orphanet:528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617021 MONDO:0014870 NEK9-related lethal skeletal dysplasia skos:closeMatch Orphanet:464366 NEK9-related lethal skeletal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617022 MONDO:0014871 retinitis pigmentosa 75 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617023 MONDO:0014872 congenital stationary night blindness 1H skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617024 -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus comedonicus -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265987 MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus -MONDO:0014873 nevus comedonicus syndrome skos:closeMatch NCIT:C3946 Nevus Comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617025 +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch NCIT:C3946 Nevus Comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus comedonicus +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch Orphanet:64754 Nevus comedonicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265987 +MONDO:0014873 nevus comedonicus syndrome skos:closeMatch OMIM:617025 nevus comedonicus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus comedonicus MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fh type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014875 hyperaldosteronism, familial, type IV skos:closeMatch OMIM:617027 hyperaldosteronism, familial, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aldosteronism, primary, and hypertension @@ -26713,15 +26719,15 @@ MONDO:0014877 myopathy, distal, 5 skos:closeMatch Orphanet:482601 Adenylosuccina MONDO:0014878 patent ductus arteriosus 2 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617035 MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 MONDO:0014880 Duane retraction syndrome 3 with or without deafness skos:closeMatch Orphanet:529574 Duane retraction syndrome with congenital deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617041 -MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, developmental delay, and congenital heart defects -MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, developmental delay, and congenital heart defects MONDO:0014881 transketolase deficiency skos:closeMatch Orphanet:488618 Transketolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617044 -MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 77 +MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, developmental delay, and congenital heart defects +MONDO:0014881 transketolase deficiency skos:closeMatch OMIM:617044 short stature, developmental delay, and congenital heart defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, developmental delay, and congenital heart defects MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617046 -MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014882 hereditary spastic paraplegia 77 skos:closeMatch Orphanet:466722 Autosomal recessive spastic paraplegia type 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal recessive spastic paraplegia type 77 MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617047 -MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 +MONDO:0014883 hypertrophic cardiomyopathy 26 skos:closeMatch OMIM:617047 cardiomyopathy, familial hypertrophic, 26 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, familial restrictive, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 +MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617049 MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:closeMatch Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617050 MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome skos:closeMatch Orphanet:488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617051 @@ -26734,8 +26740,8 @@ MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild in MONDO:0014894 Meier-Gorlin syndrome 7 skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617063 MONDO:0014895 developmental and epileptic encephalopathy, 40 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617065 MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome skos:closeMatch Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617066 -MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617069 MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch OMIM:617069 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 skos:closeMatch Orphanet:254886 Autosomal recessive progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617069 MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch OMIM:617070 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive external ophthalmoplegia, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency skos:closeMatch Orphanet:329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617070 MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y skos:closeMatch Orphanet:424261 TOR1AIP1-related limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617072 @@ -26747,27 +26753,27 @@ MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fiss MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly skos:closeMatch Orphanet:289 Ellis Van Creveld syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617088 MONDO:0014908 microcephaly 17, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617090 -MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 34, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617091 -MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 35, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014909 primary ciliary dyskinesia 34 skos:closeMatch OMIM:617091 ciliary dyskinesia, primary, 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 34, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617092 +MONDO:0014910 primary ciliary dyskinesia 35 skos:closeMatch OMIM:617092 ciliary dyskinesia, primary, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 35, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014911 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy skos:closeMatch Orphanet:541423 Growth delay-intellectual disability-hepatopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617093 +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, panniculitis, and dermatosis syndrome +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617099 MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:exactMatch NCIT:C174441 Autoinflammation, Panniculitis, and Dermatosis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch OMIM:617099 autoinflammation, panniculitis, and dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, panniculitis, and dermatosis syndrome -MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin -MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome skos:closeMatch Orphanet:500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617099 MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hereditary persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin -MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome +MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with persistence of fetal hemoglobin +MONDO:0014914 Dias-Logan syndrome skos:closeMatch OMIM:617101 intellectual developmental disorder with persistence of fetal hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with persistence of fetal hemoglobin MONDO:0014914 Dias-Logan syndrome skos:closeMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617101 +MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dias-logan syndrome MONDO:0014914 Dias-Logan syndrome skos:exactMatch Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dias-logan syndrome MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617102 -MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 +MONDO:0014916 developmental and epileptic encephalopathy, 41 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617105 MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:exactMatch NCIT:C188142 Developmental and Epileptic Encephalopathy 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014917 developmental and epileptic encephalopathy, 42 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617106 MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome skos:closeMatch Orphanet:500095 Tall stature-intellectual disability-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thauvin-robinet-faivre syndrome @@ -26782,29 +26788,29 @@ MONDO:0014923 peeling skin syndrome 5 skos:closeMatch Orphanet:289586 Exfoliativ MONDO:0014924 epilepsy, familial focal, with variable foci 2 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617116 MONDO:0014925 epilepsy, familial focal, with variable foci 3 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617118 MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement -MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617119 MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bbs20 +MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617119 +MONDO:0014926 Bardet-Biedl syndrome 22 skos:closeMatch OMIM:619471 bardet-biedl syndrome 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 20 semapv:RegularExpressionReplacement MONDO:0014927 Joubert syndrome 27 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617120 -MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 +MONDO:0014928 Joubert syndrome 28 skos:closeMatch Orphanet:220493 Joubert syndrome with ocular defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617121 MONDO:0014929 retinitis pigmentosa 76 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617123 MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617125 -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch OMIM:617127 orofaciodigital syndrome 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofaciodigital syndrome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014932 orofaciodigital syndrome XV skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617127 MONDO:0014933 developmental and epileptic encephalopathy, 44 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617132 MONDO:0014935 frontometaphyseal dysplasia 2 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617137 -MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome -MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617140 +MONDO:0014936 ZTTK syndrome skos:closeMatch OMIM:617140 zttk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome +MONDO:0014936 ZTTK syndrome skos:closeMatch Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome MONDO:0014937 aniridia 2 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617141 MONDO:0014938 aniridia 3 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617142 -MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 +MONDO:0014939 congenital myasthenic syndrome 20 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617143 MONDO:0014942 developmental and epileptic encephalopathy, 45 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617153 MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) skos:closeMatch Orphanet:254871 Mitochondrial DNA depletion syndrome, hepatocerebral form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711385 MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome skos:closeMatch Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617157 @@ -26815,42 +26821,42 @@ MONDO:0014947 developmental and epileptic encephalopathy, 46 skos:closeMatch Orp MONDO:0014949 developmental and epileptic encephalopathy, 47 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617166 MONDO:0014950 aortic aneurysm, familial thoracic 10 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617168 MONDO:0014951 Sotos syndrome 3 skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 -MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskinesia, seizures, and intellectual developmental disorder MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch Orphanet:468620 Intellectual disability-epilepsy-extrapyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617171 +MONDO:0014952 intellectual disability-epilepsy-extrapyramidal syndrome skos:closeMatch OMIM:617171 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dyskinesia, seizures, and intellectual developmental disorder MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:exactMatch NCIT:C164154 Intellectual Developmental Disorder with Cardiac Arrhythmia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intellectual developmental disorder with cardiac arrhythmia MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome skos:closeMatch Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617173 -MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch OMIM:617174 ehlers-danlos syndrome, periodontal type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 MONDO:0014955 RCBTB1-related retinopathy skos:exactMatch NCIT:C164155 Retinal Dystrophy with or without Extraocular Anomalies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label retinal dystrophy with or without extraocular anomalies MONDO:0014955 RCBTB1-related retinopathy skos:closeMatch Orphanet:99002 Reticular dystrophy of the retinal pigment epithelium semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617175 MONDO:0014958 Harel-Yoon syndrome skos:closeMatch Orphanet:496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617183 +MONDO:0014961 spermatogenic failure 16 skos:closeMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617187 MONDO:0014961 spermatogenic failure 16 skos:closeMatch Orphanet:529970 Male infertility due to acephalic spermatozoa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome -MONDO:0014961 spermatogenic failure 16 skos:closeMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acephalic spermatozoa syndrome MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617188 -MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 +MONDO:0014966 periventricular nodular heterotopia 7 skos:closeMatch Orphanet:2149 Nodular neuronal heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617201 MONDO:0014967 heterotaxy, visceral, 8, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617205 MONDO:0014968 encephalopathy, progressive, with amyotrophy and optic atrophy skos:closeMatch Orphanet:496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617207 MONDO:0014969 isolated sedoheptulokinase deficiency skos:closeMatch Orphanet:440713 Isolated sedoheptulokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617213 MONDO:0014970 spermatogenic failure 17 skos:closeMatch OMIM:617214 spermatogenic failure 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym male infertility due to oocyte activation failure -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch Orphanet:513436 Autosomal recessive spastic paraplegia type 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617225 MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome skos:closeMatch Orphanet:478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617228 MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch Orphanet:480682 POGLUT1-related limb-girdle muscular dystrophy R21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617232 MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities MONDO:0014981 immunodeficiency 49 skos:closeMatch OMIM:617237 immunodeficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities -MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 -MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014983 congenital myasthenic syndrome 21 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617239 MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617243 +MONDO:0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; skos:closeMatch OMIM:617241 lung disease, immunodeficiency, and chromosome breakage syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lung disorder, immunodeficiency, and chromosome breakage syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617243 MONDO:0014985 Fanconi anemia complementation group V skos:closeMatch OMIM:617243 fanconi anemia, complementation group 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group r MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617244 +MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group r MONDO:0014986 Fanconi anemia complementation group R skos:closeMatch OMIM:617244 fanconi anemia, complementation group r semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group r MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group u MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch OMIM:617247 fanconi anemia, complementation group u semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group u @@ -26858,8 +26864,8 @@ MONDO:0014987 Fanconi anemia complementation group U skos:closeMatch Orphanet:84 MONDO:0014989 uncombable hair syndrome 2 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617251 MONDO:0014990 uncombable hair syndrome 3 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617252 MONDO:0014991 Seckel syndrome 10 skos:closeMatch Orphanet:436182 Microcephalic primordial dwarfism-insulin resistance syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617253 -MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:93589 Late-onset nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 +MONDO:0014997 nephronophthisis 20 skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617271 MONDO:0014998 glaucoma 3, primary congenital, E skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617272 MONDO:0015000 developmental and epileptic encephalopathy, 48 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617276 MONDO:0015001 atrial fibrillation, familial, 18 skos:closeMatch Orphanet:334 Familial atrial fibrillation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617280 @@ -26867,87 +26873,87 @@ MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia ab MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities skos:closeMatch Orphanet:508093 MEPAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617282 MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617290 MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss skos:closeMatch Orphanet:508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617294 -MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617296 MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch OMIM:617296 spastic paraplegia, intellectual disability, nystagmus, and obesity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia, intellectual disability, nystagmus, and obesity +MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; skos:closeMatch Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617296 MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch Orphanet:100031 Hypoplastic amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617297 -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine -MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glycine encephalopathy with normal serum glycine +MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine +MONDO:0015010 atypical glycine encephalopathy skos:closeMatch OMIM:617301 glycine encephalopathy with normal serum glycine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycine encephalopathy with normal serum glycine MONDO:0015010 atypical glycine encephalopathy skos:closeMatch Orphanet:289863 Atypical glycine encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617301 MONDO:0015011 optic atrophy 11 skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617302 MONDO:0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders skos:closeMatch Orphanet:505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617303 MONDO:0015013 retinitis pigmentosa 77 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617304 MONDO:0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness skos:closeMatch Orphanet:603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617306 MONDO:0015016 anterior segment dysgenesis 6 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617315 -MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:88632 Anterior segment developmental anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 +MONDO:0015017 anterior segment dysgenesis 8 skos:closeMatch Orphanet:519388 Autosomal recessive anterior segment dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617319 MONDO:0015023 MYPN-related myopathy skos:closeMatch Orphanet:171439 Childhood-onset nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617336 MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type skos:closeMatch Orphanet:1810 Autosomal dominant hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617337 MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617341 -MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936741 MONDO:0015028 48,XXYY syndrome skos:closeMatch NCIT:C89801 XXYY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxyy syndrome +MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936741 MONDO:0015028 48,XXYY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048230 MONDO:0015031 extraneural perineurioma skos:exactMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label soft tissue perineurioma MONDO:0015032 intraneural perineurioma skos:closeMatch Orphanet:100003 Intraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1370658 MONDO:0015033 ABeta amyloidosis, dutch type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, dutch variant -MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318550 MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 1 -MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 2 +MONDO:0015040 myelodysplastic syndrome with excess blasts-1 skos:closeMatch Orphanet:100019 Refractory anemia with excess blasts type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318550 MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318551 +MONDO:0015041 myelodysplastic syndrome with excess blasts-2 skos:closeMatch Orphanet:100020 Refractory anemia with excess blasts type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label refractory anemia with excess blasts type 2 MONDO:0015045 alpha-heavy chain disease skos:closeMatch Orphanet:100025 Alpha-heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021071 MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 MONDO:0015048 amelogenesis imperfecta type 2 skos:closeMatch Orphanet:100033 Hypomaturation amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536606 MONDO:0015054 hereditary angioedema type 2 skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862892 MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema induced by ace inhibitors, susceptibility to MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema induced by ace inhibitors, susceptibility to -MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029542 MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 +MONDO:0015059 progressive non-fluent aphasia skos:closeMatch Orphanet:100070 Progressive non-fluent aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057178 MONDO:0015061 neurogenic thoracic outlet syndrome skos:closeMatch Orphanet:100073 Neurogenic thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751549 -MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric net MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric neuroendocrine tumor +MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100075 Neuroendocrine tumor of stomach semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gastric net MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100077 Jejunal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135090 Jejunal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label jejunal neuroendocrine tumor MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch NCIT:C135092 Ileal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100078 Ileal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ileal neuroendocrine tumor MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100079 Neuroendocrine neoplasm of appendix semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine neoplasm of appendix -MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the colon MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colonic net -MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the rectum +MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor skos:exactMatch Orphanet:100080 Neuroendocrine tumor of the colon semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym net of the colon MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:exactMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rectal neuroendocrine tumor +MONDO:0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade skos:closeMatch Orphanet:100081 Neuroendocrine tumor of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the rectum MONDO:0015069 neuroendocrine tumor of the anal canal skos:closeMatch Orphanet:100082 Neuroendocrine tumor of anal canal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of anal canal MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch NCIT:C173391 Laryngeal Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor MONDO:0015070 laryngeal neuroendocrine neoplasm skos:closeMatch Orphanet:100083 Laryngeal neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal neuroendocrine tumor -MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549473 MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007476 +MONDO:0015075 thyroid gland carcinoma skos:closeMatch Orphanet:100088 Thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549473 MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataracts-motor neuropathy-short stature-skeletal anomalies syndrome MONDO:0015091 autosomal dominant spastic paraplegia type 9 skos:exactMatch Orphanet:447753 Autosomal dominant spastic paraplegia type 9A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3160906 MONDO:0015094 subependymal nodular heterotopia skos:closeMatch Orphanet:101030 Subependymal nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071150 -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 -MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553669 +MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:101096 Aregenerative anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054329 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036183 -MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162566 +MONDO:0015100 aregenerative anemia skos:closeMatch Orphanet:98826 Refractory anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002893 MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porphyria cutanea tarda MONDO:0015104 porphyria cutanea tarda skos:exactMatch OMIM:176100 porphyria cutanea tarda semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria cutanea tarda +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162566 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036183 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 +MONDO:0015104 porphyria cutanea tarda skos:closeMatch Orphanet:101330 Porphyria cutanea tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017119 MONDO:0015127 pituitary deficiency skos:closeMatch Orphanet:101957 Pituitary deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020635 MONDO:0015128 primary adrenal insufficiency skos:closeMatch Orphanet:101958 Primary adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052381 -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal aplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 +MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271737 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240200 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000224 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001130 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271737 -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal hypoplasia -MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch OMIM:240200 hypoadrenocorticism, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal aplasia +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autoimmune adrenalitis +MONDO:0015129 chronic primary adrenal insufficiency skos:exactMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label addison disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015129 chronic primary adrenal insufficiency skos:closeMatch NCIT:C113814 Autoimmune Primary Adrenal Insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune primary adrenal insufficiency MONDO:0015131 combined immunodeficiency skos:closeMatch Orphanet:101972 Combined T and B cell immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined t and b cell immunodeficiency MONDO:0015134 constitutional neutropenia skos:closeMatch OMIM:610738 neutropenia, severe congenital, 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym kostmann disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -26964,63 +26970,63 @@ MONDO:0015148 lissencephaly type 3 skos:exactMatch NCIT:C148461 Lissencephaly 3 MONDO:0015149 pure hereditary spastic paraplegia skos:closeMatch Orphanet:102012 Pure hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393555 MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy skos:closeMatch Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931907 MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label constricting bands, congenital -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streeter anomaly -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constricting bands, congenital -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adam complex -MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amputation, congenital MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217100 MONDO:0015167 amniotic band syndrome skos:closeMatch Orphanet:295000 Constriction rings syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amniotic band sequence MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym terminal transverse defects of arm -MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051643 +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amputation, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constricting bands, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adam complex +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label constricting bands, congenital +MONDO:0015167 amniotic band syndrome skos:closeMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym streeter anomaly MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyoplasia congenita MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:488586 Congenital amyoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital amyoplasia -MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069002 +MONDO:0015168 arthrogryposis multiplex congenita skos:closeMatch Orphanet:1037 Arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051643 MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609129 +MONDO:0015175 autoimmune pancreatitis skos:closeMatch Orphanet:103919 Autoimmune pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069002 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537351 MONDO:0015177 metaphyseal anadysplasia skos:closeMatch Orphanet:1040 Metaphyseal anadysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432226 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036992 -MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049416 MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012778 -MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057018 +MONDO:0015183 short bowel syndrome skos:closeMatch Orphanet:104008 Short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049416 MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345891 +MONDO:0015185 intestinal polyposis syndrome skos:closeMatch Orphanet:104010 Intestinal polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057018 +MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020305 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015160 MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020529 -MONDO:0015193 hydrops fetalis skos:closeMatch Orphanet:1041 Hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020305 -MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040661 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000756 +MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040661 MONDO:0015194 sideroblastic anemia skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002896 MONDO:0015195 atresia of urethra skos:closeMatch Orphanet:105 Atresia of urethra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064895 -MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431420 MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536535 -MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931243 +MONDO:0015196 vein of Galen aneurysm skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431420 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536568 -MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 +MONDO:0015199 aniridia - intellectual disability syndrome skos:closeMatch Orphanet:1068 Aniridia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931243 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002533 +MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017129 MONDO:0015200 anisakiasis skos:closeMatch Orphanet:1070 Anisakiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162576 MONDO:0015201 ankyloblepharon filiforme-imperforate anus syndrome skos:closeMatch Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ankyloblepharon filiforme adnatum-imperforate anus syndrome MONDO:0015203 coronary artery congenital malformation skos:closeMatch Orphanet:1081 Coronary artery congenital malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061060 MONDO:0015204 microlissencephaly skos:closeMatch Orphanet:1083 Microlissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956147 +MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001176 -MONDO:0015225 arthrogryposis syndrome skos:closeMatch Orphanet:109007 Arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003886 -MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 +MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265497 MONDO:0015228 pentasomy X skos:closeMatch Orphanet:11 Pentasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535319 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752166 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020788 MONDO:0015229 Bardet-Biedl syndrome skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056715 -MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050839 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001477 +MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050839 MONDO:0015231 Bartter syndrome skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004775 MONDO:0015233 caudal appendage-deafness syndrome skos:closeMatch Orphanet:1123 Caudal appendage-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931593 MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome skos:closeMatch Orphanet:1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931398 @@ -27029,81 +27035,81 @@ MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:Le MONDO:0015237 arrhinia skos:closeMatch Orphanet:1134 Isolated arrhinia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537438 MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bosma arhinia microphthalmia syndrome MONDO:0015238 arrhinia-choanal atresia-microphthalmia syndrome skos:closeMatch OMIM:603457 bosma arhinia microphthalmia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bosma arhinia microphthalmia syndrome -MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label digitotalar dysmorphism +MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digitotalar dysmorphism MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220662 MONDO:0015240 digitotalar dysmorphism skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1852085 MONDO:0015240 digitotalar dysmorphism skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism MONDO:0015241 arthrogryposis-like syndrome skos:closeMatch Orphanet:1149 Kuskokwim syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kuskokwim syndrome MONDO:0015241 arthrogryposis-like syndrome skos:exactMatch OMIM:259450 bruck syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kuskokwim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103920 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001229 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004031 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006474 -MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allergic bronchopulmonary aspergillosis, familial +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004031 MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym allergic bronchopulmonary aspergillosis, familial +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label allergic bronchopulmonary aspergillosis, familial +MONDO:0015243 allergic bronchopulmonary aspergillosis skos:closeMatch Orphanet:1164 Allergic bronchopulmonary aspergillosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103920 MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 -MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393626 MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053578 +MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393626 MONDO:0015247 opsoclonus-myoclonus syndrome skos:closeMatch Orphanet:1183 Opsoclonus-myoclonus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053854 MONDO:0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome skos:closeMatch Orphanet:1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930956 MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062989 -MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrogenesis imperfecta -MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aase syndrome MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260899 -MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement -MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement -MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aase syndrome +MONDO:0015253 Diamond-Blackfan anemia skos:exactMatch OMIM:105650 diamond-blackfan anemia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrogenesis imperfecta +MONDO:0015253 Diamond-Blackfan anemia skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029503 MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036323 MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 +MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012552 MONDO:0015254 schistosomiasis skos:closeMatch Orphanet:1247 Schistosomiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039603 +MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement +MONDO:0015254 schistosomiasis skos:narrowMatch ICD10CM:B65.8 Other schistosomiasis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym schistosomiasis semapv:RegularExpressionReplacement MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013029 MONDO:0015260 diphyllobothriasis skos:closeMatch Orphanet:128 Diphyllobothriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012561 MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 MONDO:0015261 pseudopelade of Brocq skos:closeMatch Orphanet:129 Pseudopelade of Brocq semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531609 -MONDO:0015262 brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachyrachia -MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432228 MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 +MONDO:0015262 brachyolmia skos:closeMatch Orphanet:1293 Brachyolmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537098 +MONDO:0015262 brachyolmia skos:exactMatch OMIM:113500 brachyolmia iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachyrachia +MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 +MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142166 MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 -MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym right bundle branch block, st segment elevation, and sudden death syndrome -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059027 +MONDO:0015263 Brugada syndrome skos:exactMatch OMIM:601144 brugada syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudden unexplained nocturnal death syndrome MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053840 -MONDO:0015263 Brugada syndrome skos:closeMatch Orphanet:130 Brugada syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142166 -MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242770 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 +MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242770 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1302 Cryptogenic organizing pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018549 MONDO:0015264 cryptogenic organizing pneumonia skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym constrictive bronchiolitis -MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis -MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bronchiolitis obliterans with obstructive pulmonary disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch Orphanet:1303 Bronchiolitis obliterans with obstructive pulmonary disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym obliterative bronchiolitis MONDO:0015265 bronchiolitis obliterans syndrome skos:closeMatch NCIT:C62580 Bronchiolitis Obliterans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchiolitis obliterans -MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0015265 bronchiolitis obliterans syndrome skos:exactMatch NCIT:C184957 Bronchiolitis Obliterans Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchiolitis obliterans syndrome +MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym feingold syndrome MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oded syndrome -MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microcephaly-oculo-digito-esophageal-duodenal syndrome +MONDO:0015267 Feingold syndrome skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digital anomalies with short palpebral fissures and atresia of esophagus or duodenum +MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027104 MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007691 MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022681 -MONDO:0015268 medullary sponge kidney skos:closeMatch Orphanet:1309 Medullary sponge kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027104 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apnea, postanesthetic -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:177400 BCHE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase e1 -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suxamethonium sensitivity +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:617936 butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acholinesterasemia -MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537417 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617936 MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1283400 -MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch Orphanet:132 Butyrylcholinesterase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase deficiency +MONDO:0015270 butyrylcholinesterase deficiency skos:closeMatch OMIM:177400 BCHE semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocholinesterase e1 MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069646 MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 +MONDO:0015271 idiopathic camptocormia skos:closeMatch Orphanet:1320 Idiopathic camptocormia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537968 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537972 MONDO:0015272 camptodactyly-taurinuria syndrome skos:closeMatch Orphanet:1325 Camptodactyly-taurinuria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931681 @@ -27113,32 +27119,32 @@ MONDO:0015274 chronic beryllium disease skos:closeMatch Orphanet:133 Chronic ber MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial avsd MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 MONDO:0015275 partial atrioventricular canal skos:closeMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536112 -MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238462 MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027101 -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic acinar carcinoma -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 -MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 +MONDO:0015277 medullary thyroid gland carcinoma skos:closeMatch Orphanet:1332 Medullary thyroid carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238462 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260350 MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535837 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch Orphanet:1333 Familial pancreatic carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931038 +MONDO:0015278 familial pancreatic carcinoma skos:closeMatch OMIM:260350 pancreatic cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic acinar carcinoma MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002178 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006845 MONDO:0015279 chronic mucocutaneous candidiasis skos:closeMatch Orphanet:1334 Chronic mucocutaneous candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009007 -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 -MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275081 +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 MONDO:0015280 cardiofaciocutaneous syndrome skos:exactMatch OMIM:115150 cardiofaciocutaneous syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cfc syndrome +MONDO:0015280 cardiofaciocutaneous syndrome skos:closeMatch Orphanet:1340 Cardiofaciocutaneous syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535579 MONDO:0015281 atrial standstill skos:exactMatch OMIM:108770 atrial standstill 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrial cardiomyopathy with heart block MONDO:0015282 cardiomyopathy-cataract-hip spine disease syndrome skos:closeMatch Orphanet:1345 Cardiomyopathy-cataract-hip spine disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931548 -MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart-hand syndrome type 2 semapv:RegularExpressionReplacement MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931323 -MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carney syndrome +MONDO:0015284 heart-hand syndrome type 2 skos:closeMatch Orphanet:1350 Heart-hand syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heart-hand syndrome type 2 semapv:RegularExpressionReplacement MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 -MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406810 -MONDO:0015285 Carney complex skos:exactMatch NCIT:C71638 Lamb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lamb MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lamb syndrome MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym name syndrome +MONDO:0015285 Carney complex skos:exactMatch NCIT:C71638 Lamb semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lamb +MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406810 MONDO:0015285 Carney complex skos:closeMatch Orphanet:1359 Carney complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056733 +MONDO:0015285 Carney complex skos:exactMatch OMIM:160980 carney complex, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carney syndrome MONDO:0015286 congenital disorder of glycosylation skos:closeMatch Orphanet:137 Congenital disorder of glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282577 MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339296 MONDO:0015290 neurotrophic keratopathy skos:closeMatch Orphanet:137596 Neurotrophic keratopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069732 @@ -27147,45 +27153,45 @@ MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Neph MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1619692 MONDO:0015294 nephrogenic systemic fibrosis skos:closeMatch Orphanet:137617 Nephrogenic systemic fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067467 MONDO:0015294 nephrogenic systemic fibrosis skos:exactMatch NCIT:C115158 Nephrogenic Systemic Fibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nephrogenic systemic fibrosis -MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0156372 MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053868 MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022821 +MONDO:0015299 Asherman syndrome skos:closeMatch Orphanet:137686 Asherman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0156372 MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 MONDO:0015300 cataract - microcornea syndrome skos:closeMatch Orphanet:1377 Cataract-microcornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538287 MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial primary localized cutaneous amyloidosis MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268397 MONDO:0015301 primary cutaneous amyloidosis skos:closeMatch Orphanet:137807 Primary cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011659 -MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056953 MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0546394 -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270617 -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003708 -MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003074 +MONDO:0015302 nodular cutaneous amyloidosis skos:closeMatch Orphanet:137810 Nodular cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056953 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001100 -MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065552 +MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003708 +MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270617 +MONDO:0015304 arachnoiditis skos:closeMatch Orphanet:137817 Arachnoiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003074 MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057831 +MONDO:0015306 Lemierre syndrome skos:closeMatch Orphanet:137839 Lemierre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065552 MONDO:0015307 Madras motor neuron disease skos:closeMatch Orphanet:137867 Madras motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393551 MONDO:0015316 congenital laryngeal palsy skos:closeMatch Orphanet:137932 Congenital laryngeal palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0396058 MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome skos:closeMatch Orphanet:1381 Cataract-intellectual disability-anal atresia-urinary defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931391 +MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527231 MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adrenomyeloneuropathy MONDO:0015339 adrenomyeloneuropathy skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adrenomyeloneuropathy -MONDO:0015339 adrenomyeloneuropathy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527231 MONDO:0015340 drug rash with eosinophilia and systemic symptoms skos:closeMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058919 MONDO:0015342 acute transverse myelitis skos:closeMatch Orphanet:139417 Acute transverse myelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270627 -MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070595 MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311284 +MONDO:0015347 multicentric reticulohistiocytosis skos:closeMatch Orphanet:139436 Multicentric reticulohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070595 MONDO:0015350 17q11.2 microduplication syndrome skos:closeMatch Orphanet:139474 17q11.2 microduplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618874 MONDO:0015352 distal hereditary motor neuropathy type 2 skos:exactMatch OMIM:605726 spinal muscular atrophy, distal, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma2 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833308 MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:closeMatch Orphanet:139536 Distal hereditary motor neuropathy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600794 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indifference to pain, congenital, autosomal recessive MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027889 MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009477 -MONDO:0015364 hereditary sensory and autonomic neuropathy skos:closeMatch Orphanet:140471 Hereditary sensory and autonomic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027889 +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym indifference to pain, congenital, autosomal recessive +MONDO:0015364 hereditary sensory and autonomic neuropathy skos:exactMatch OMIM:243000 indifference to pain, congenital, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label indifference to pain, congenital, autosomal recessive MONDO:0015367 Charlie M syndrome skos:closeMatch Orphanet:570 Moebius syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221060 MONDO:0015371 linear atrophoderma of Moulin skos:closeMatch Orphanet:140933 Linear atrophoderma of Moulin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274753 MONDO:0015374 primary central nervous system vasculitis skos:closeMatch Orphanet:140989 Primary angiitis of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020293 @@ -27196,181 +27202,181 @@ MONDO:0015392 nasal glial heterotopia skos:closeMatch Orphanet:141112 Nasal glia MONDO:0015392 nasal glial heterotopia skos:exactMatch NCIT:C121688 Nasal Glial Heterotopia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasal glial heterotopia MONDO:0015396 congenital laryngeal cyst skos:closeMatch Orphanet:141124 Congenital laryngeal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339880 MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum -MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fav sequence -MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculovertebral sequence MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemifacial microsomia MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:141132 Oculo-auriculo-vertebral spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoauriculovertebral spectrum MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch Orphanet:2549 Oculoauriculovertebral spectrum with radial defects semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265240 +MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facioauriculovertebral sequence +MONDO:0015397 oculo-auriculo-vertebral spectrum skos:closeMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fav sequence MONDO:0015398 hemifacial microsomia skos:exactMatch OMIM:164210 craniofacial microsomia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hemifacial microsomia MONDO:0015403 non-involuting congenital hemangioma skos:closeMatch Orphanet:141179 Non-involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275417 MONDO:0015404 rapidly involuting congenital hemangioma skos:closeMatch Orphanet:141184 Rapidly involuting congenital hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275421 -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gla MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gla +MONDO:0015408 diffuse lymphatic malformation skos:exactMatch OMIM:300644 GLA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gla MONDO:0015411 facial cleft skos:closeMatch NCIT:C124573 Prosoposchisis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label prosoposchisis -MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tessier number type 7 facial cleft semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015418 lateral facial cleft skos:exactMatch Orphanet:141276 Tessier number 7 facial cleft semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym transverse facial cleft +MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932679 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548034 -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 12 semapv:RegularExpressionReplacement MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 12 semapv:RegularExpressionReplacement -MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932679 -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 13 semapv:RegularExpressionReplacement -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 13 semapv:RegularExpressionReplacement -MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932680 +MONDO:0015421 orofaciodigital syndrome type 12 skos:closeMatch Orphanet:141327 Orofaciodigital syndrome type 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 12 semapv:RegularExpressionReplacement MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932680 +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome type 13 semapv:RegularExpressionReplacement +MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oral-facial-digital syndrome type 13 semapv:RegularExpressionReplacement MONDO:0015422 orofaciodigital syndrome type 13 skos:closeMatch Orphanet:141330 Orofaciodigital syndrome type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548035 +MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification MONDO:0015426 Desbuquois dysplasia skos:closeMatch Orphanet:1425 Desbuquois syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432242 -MONDO:0015426 Desbuquois dysplasia skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym desbuquois syndrome MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0015427 paroxysmal dyskinesia skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002819 MONDO:0015427 paroxysmal dyskinesia skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0015428 choroidal atrophy-alopecia syndrome skos:closeMatch Orphanet:1433 Choroidal atrophy-alopecia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931026 -MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement +MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535361 -MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015430 ring chromosome 1 skos:exactMatch NCIT:C36474 Ring Chromosome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 1 semapv:RegularExpressionReplacement +MONDO:0015430 ring chromosome 1 skos:closeMatch Orphanet:1437 Ring chromosome 1 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 1 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265438 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015431 ring chromosome 10 skos:closeMatch OMIM:603820 FFAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r10 -MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 10 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 12 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795843 +MONDO:0015431 ring chromosome 10 skos:closeMatch Orphanet:1438 Ring chromosome 10 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538086 +MONDO:0015431 ring chromosome 10 skos:closeMatch OMIM:603820 FFAR1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym r10 MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015432 ring chromosome 12 skos:exactMatch NCIT:C158951 Ring Chromosome 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ring chromosome type 12 semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 12 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795843 +MONDO:0015432 ring chromosome 12 skos:closeMatch Orphanet:1439 Ring chromosome 12 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 17 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538046 -MONDO:0015433 ring chromosome 17 skos:closeMatch Orphanet:1441 Ring chromosome 17 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265475 -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 -MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015434 ring chromosome 18 skos:closeMatch NCIT:C175706 Ring Chromosome 18 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265475 MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 19 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015434 ring chromosome 18 skos:closeMatch Orphanet:1442 Ring chromosome 18 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538304 MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015435 ring chromosome 19 skos:closeMatch Orphanet:1443 Ring chromosome 19 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 19 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015436 ring chromosome 20 skos:closeMatch NCIT:C169001 Ring Chromosome 20 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 20 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015436 ring chromosome 20 skos:closeMatch Orphanet:1444 Ring chromosome 20 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537109 -MONDO:0015437 ring chromosome 21 skos:closeMatch NCIT:C186278 Ring Chromosome 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015437 ring chromosome 21 skos:closeMatch Orphanet:1445 Ring chromosome 21 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015437 ring chromosome 21 skos:closeMatch NCIT:C186278 Ring Chromosome 21 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 21 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 +MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch NCIT:C179702 Ring Chromosome 22 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536795 -MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 22 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015438 ring chromosome 22 skos:closeMatch Orphanet:1446 Ring chromosome 22 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 4 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 -MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 4 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015439 ring chromosome 4 skos:closeMatch Orphanet:1447 Ring chromosome 4 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537636 MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 6 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537763 +MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 6 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015440 ring chromosome 6 skos:closeMatch Orphanet:1448 Ring chromosome 6 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 -MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 7 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015441 ring chromosome 7 skos:closeMatch Orphanet:1449 Ring chromosome 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537813 MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 -MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch NCIT:C175705 Ring Chromosome 8 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch NCIT:C175705 Ring Chromosome 8 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 8 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015443 chromosome 8-derived supernumerary ring/marker skos:closeMatch Orphanet:1450 Ring chromosome 8 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537824 MONDO:0015446 atypical coarctation of aorta skos:closeMatch Orphanet:1456 Atypical coarctation of aorta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3805239 MONDO:0015448 mitochondrial complex III deficiency skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated complex iii deficiency MONDO:0015451 univentricular heart skos:closeMatch Orphanet:1464 Univentricular heart semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045545 MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 +MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coffin-siris syndrome MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536436 -MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fifth digit syndrome -MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coffin-siris syndrome MONDO:0015452 Coffin-Siris syndrome skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coffin-siris syndrome +MONDO:0015452 Coffin-Siris syndrome skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265338 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055952 MONDO:0015453 Cogan syndrome skos:closeMatch Orphanet:1467 Cogan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056667 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028176 +MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009100 -MONDO:0015454 multiple carboxylase deficiency skos:closeMatch Orphanet:148 Multiple carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026755 -MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasopharyngeal carcinoma +MONDO:0015454 multiple carboxylase deficiency skos:narrowMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym multiple carboxylase deficiency semapv:RegularExpressionReplacement MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym nasopharyngeal carcinoma -MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma -MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nasopharyngeal carcinoma +MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nasopharyngeal carcinoma MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 +MONDO:0015459 nasopharyngeal carcinoma skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nasopharyngeal carcinoma MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028793 MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931822 +MONDO:0015459 nasopharyngeal carcinoma skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538339 +MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012779 -MONDO:0015461 short rib-polydactyly syndrome skos:closeMatch Orphanet:1505 Short rib-polydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036996 MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome skos:closeMatch Orphanet:1506 Thin ribs-tubular bones-dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931543 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch OMIM:272440 filippi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scott craniodigital syndrome with mental retardation MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label craniodigital-intellectual disability syndrome MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839311 MONDO:0015463 craniodigital syndrome-intellectual disability syndrome skos:closeMatch Orphanet:1514 Craniodigital-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312860 MONDO:0015466 cranio-osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049889 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 -MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048907 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003398 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048907 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 +MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:1531 Craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049889 MONDO:0015469 craniosynostosis skos:closeMatch Orphanet:139390 Non-syndromic craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010278 MONDO:0015474 cryptosporidiosis skos:exactMatch NCIT:C35591 Cryptosporidial Gastroenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cryptosporidial gastroenteritis -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 -MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008342 +MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:155899 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 +MONDO:0015483 mandibulofacial dysostosis skos:closeMatch Orphanet:861 Treacher-Collins syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051456 MONDO:0015483 mandibulofacial dysostosis skos:exactMatch OMIM:154500 treacher collins syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mandibulofacial dysostosis -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 +MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010678 MONDO:0015484 cysticercosis skos:closeMatch NCIT:C84932 Neurocysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurocysticercosis -MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011775 +MONDO:0015484 cysticercosis skos:closeMatch Orphanet:1560 Cysticercosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003551 MONDO:0015487 fatal infantile encephalocardiomyopathy skos:closeMatch Orphanet:1561 Fatal infantile cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fatal infantile cytochrome c oxidase deficiency +MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717865 MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056648 -MONDO:0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis skos:closeMatch Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717865 -MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macroglossia -MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia -MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025391 +MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024421 MONDO:0015496 macroglossia skos:closeMatch Orphanet:156207 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008260 MONDO:0015496 macroglossia skos:exactMatch NCIT:C84832 Macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label macroglossia +MONDO:0015496 macroglossia skos:exactMatch OMIM:153630 macroglossia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym macroglossia MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 -MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535589 -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 +MONDO:0015515 carnitine palmitoyltransferase II deficiency skos:closeMatch Orphanet:157 Carnitine palmitoyltransferase II deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342790 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021449 -MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009447 MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 -MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795996 +MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017074 +MONDO:0015517 common variable immunodeficiency skos:closeMatch Orphanet:1572 Common variable immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009447 MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile bilateral striatal necrosis MONDO:0015518 infantile bilateral striatal necrosis skos:exactMatch OMIM:271930 striatonigral degeneration, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile bilateral striatal necrosis -MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018323 +MONDO:0015518 infantile bilateral striatal necrosis skos:closeMatch Orphanet:1576 Infantile bilateral striatal necrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795996 MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018323 MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206732 +MONDO:0015523 epithelioid hemangioendothelioma skos:closeMatch Orphanet:157791 Epithelioid hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018323 MONDO:0015526 cold-induced sweating syndrome skos:exactMatch OMIM:272430 crisponi/cold-induced sweating syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sohar-crisponi syndrome -MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376319 MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital granular cell tumor +MONDO:0015528 congenital epulis skos:closeMatch Orphanet:157826 Congenital epulis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376319 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051302 -MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1399352 +MONDO:0015529 paroxysmal Hemicrania skos:closeMatch Orphanet:157835 Paroxysmal hemicrania semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019461 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1565172 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 MONDO:0015530 trigeminal autonomic cephalalgia skos:closeMatch Orphanet:157843 Trigeminal autonomic cephalalgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d051303 +MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019624 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015616 -MONDO:0015531 non-Langerhans cell histiocytosis skos:closeMatch Orphanet:157987 Non-Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019624 MONDO:0015533 benign cephalic histiocytosis skos:closeMatch Orphanet:157997 Benign cephalic histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0347403 MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 MONDO:0015534 juvenile xanthogranuloma skos:closeMatch Orphanet:158000 Juvenile xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014972 @@ -27380,66 +27386,66 @@ MONDO:0015535 xanthoma disseminatum skos:closeMatch Orphanet:158003 Xanthoma dis MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275339 MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 MONDO:0015537 necrobiotic xanthogranuloma skos:closeMatch Orphanet:158011 Necrobiotic xanthogranuloma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058252 -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058125 +MONDO:0015540 hemophagocytic syndrome skos:closeMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis +MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024291 +MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058125 MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:158032 Hemophagocytic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887558 -MONDO:0015540 hemophagocytic syndrome skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis -MONDO:0015540 hemophagocytic syndrome skos:closeMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial hemophagocytic lymphohistiocytosis MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 -MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hemophagocytic lymphohistiocytosis MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158038 Primary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070904 +MONDO:0015541 genetic hemophagocytic lymphohistiocytosis skos:exactMatch NCIT:C61276 Familial Hemophagocytic Lymphohistiocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hemophagocytic lymphohistiocytosis MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158048 Hemophagocytic syndrome associated with an infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 MONDO:0015542 secondary hemophagocytic lymphohistiocytosis skos:closeMatch Orphanet:158041 Secondary hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019068 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053867 -MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096155 MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055501 +MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096155 +MONDO:0015545 macrophage activation syndrome skos:closeMatch Orphanet:158061 Macrophage activation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053867 MONDO:0015548 Huntington disease-like syndrome skos:closeMatch Orphanet:158266 Huntington disease-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711380 -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 -MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017531 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005871 MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931179 +MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017531 +MONDO:0015564 Castleman disease skos:closeMatch Orphanet:160 Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050251 MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 MONDO:0015566 2q24 microdeletion syndrome skos:closeMatch Orphanet:1617 2q24 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538316 -MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024140 MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057903 +MONDO:0015573 subacute cutaneous lupus erythematosus skos:closeMatch Orphanet:163525 Subacute cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024140 MONDO:0015574 chronic cutaneous lupus erythematosus skos:closeMatch Orphanet:163531 Chronic cutaneous lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057929 MONDO:0015588 limbic encephalitis skos:exactMatch NCIT:C4350 Limbic Encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label limbic encephalitis -MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar pustulosis MONDO:0015597 pustulosis palmaris et plantaris skos:closeMatch Orphanet:163927 Pustulosis palmaris et plantaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050185 -MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069664 +MONDO:0015597 pustulosis palmaris et plantaris skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar pustulosis MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274788 +MONDO:0015599 atopic keratoconjunctivitis skos:closeMatch Orphanet:163934 Atopic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069664 MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch Orphanet:163976 X-linked intellectual disability, Van Esch type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 MONDO:0015604 middle ear anomaly skos:closeMatch Orphanet:164004 Middle ear anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060957 MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536297 MONDO:0015607 partial chromosome Y deletion skos:closeMatch Orphanet:1646 Partial chromosome Y deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536297 MONDO:0015610 acquired aplastic anemia skos:closeMatch Orphanet:164823 Rare acquired aplastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare acquired aplastic anemia -MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chanarin-dorfman syndrome MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chanarin-dorfman syndrome -MONDO:0015612 Dent disease skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 -MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 +MONDO:0015611 neutral lipid storage disease skos:closeMatch OMIM:275630 chanarin-dorfman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chanarin-dorfman syndrome MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878681 -MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch OMIM:300555 dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069199 MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015612 Dent disease skos:closeMatch OMIM:300009 dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015612 Dent disease skos:closeMatch Orphanet:93622 Dent disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:93623 Dent disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dent disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839874 +MONDO:0015612 Dent disease skos:closeMatch Orphanet:1652 Dent disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057973 MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 MONDO:0015613 dentin dysplasia skos:closeMatch Orphanet:1653 Dentin dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003805 +MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012468 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003874 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003874 MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011608 -MONDO:0015614 dermatitis herpetiformis skos:closeMatch Orphanet:1656 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012468 MONDO:0015622 wound myiasis skos:closeMatch Orphanet:165955 Wound myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344061 -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder/hereditary motor and sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 -MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002607 -MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007959 +MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label charcot-marie-tooth disorder/hereditary motor and sensory neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015626 Charcot-Marie-Tooth disease skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroneal muscular atrophy MONDO:0015626 Charcot-Marie-Tooth disease skos:closeMatch Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034699 MONDO:0015628 von Willebrand disease type 2A skos:closeMatch Orphanet:166084 Von Willebrand disease type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282968 MONDO:0015629 von Willebrand disease type 2B skos:closeMatch Orphanet:166087 Von Willebrand disease type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1282971 @@ -27455,47 +27461,47 @@ MONDO:0015644 audiogenic seizures skos:closeMatch Orphanet:166415 Audiogenic sei MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eating reflex epilepsy MONDO:0015645 eating seizures skos:closeMatch Orphanet:166418 Eating reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393725 MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 -MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012592 +MONDO:0015661 dextrocardia skos:closeMatch Orphanet:1666 Dextrocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003914 MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271889 MONDO:0015663 diencephalic syndrome skos:closeMatch Orphanet:1672 Diencephalic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342436 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen myxedematosus -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055046 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lichen myxedematosus MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055046 MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053718 +MONDO:0015665 scleromyxedema skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jansky-bielschowsky disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236791 -MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008522 MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10WHO:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement -MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015681 childhood disintegrative disorder skos:narrowMatch ICD10CM:F84.3 Other childhood disintegrative disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym childhood disintegrative disorder semapv:RegularExpressionReplacement +MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008522 +MONDO:0015681 childhood disintegrative disorder skos:closeMatch Orphanet:168782 Childhood disintegrative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0236791 MONDO:0015686 primary peritoneal carcinoma skos:exactMatch NCIT:C4182 Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma -MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346421 MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065854 +MONDO:0015687 chronic eosinophilic leukemia skos:closeMatch Orphanet:168940 Chronic eosinophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346421 MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement skos:closeMatch Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfra rearrangement MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement skos:closeMatch Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myeloid/lymphoid neoplasm associated with pdgfrb rearrangement -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1540912 -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement MONDO:0015691 hypereosinophilic syndrome skos:narrowMatch ICD10CM:D72.118 Other hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypereosinophilic syndrome semapv:RegularExpressionReplacement MONDO:0015691 hypereosinophilic syndrome skos:closeMatch NCIT:C3015 Eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eosinophilia +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048643 +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017681 +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch Orphanet:168956 Hypereosinophilic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1540912 +MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 -MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280028 MONDO:0015692 refractory anemia with excess blasts in transformation skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038271 MONDO:0015696 Good syndrome skos:closeMatch Orphanet:169105 Good syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221027 MONDO:0015697 immunoglobulin heavy chain deficiency skos:closeMatch Orphanet:169110 Immunoglobulin heavy chain deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398692 -MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272238 MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044388 -MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 +MONDO:0015698 transient hypogammaglobulinemia of infancy skos:closeMatch Orphanet:169139 Transient hypogammaglobulinemia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272238 MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 +MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency skos:closeMatch Orphanet:169157 T-B+ severe combined immunodeficiency due to CD45 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1837028 MONDO:0015704 familial scaphocephaly syndrome skos:closeMatch Orphanet:169163 Familial scaphocephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072229 @@ -27504,12 +27510,12 @@ MONDO:0015713 idiopathic central precocious puberty skos:closeMatch Orphanet:169 MONDO:0015719 severe hemophilia A skos:closeMatch Orphanet:169802 Severe hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272322 MONDO:0015721 mild hemophilia A skos:closeMatch Orphanet:169808 Mild hemophilia A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272324 MONDO:0015723 trisomy 12p skos:closeMatch Orphanet:1699 Trisomy 12p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795845 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch NCIT:C116319 Trisomy 14 Mosaicism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930917 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 -MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535489 +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch Orphanet:1703 Mosaic trisomy 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015725 mosaic trisomy 14 skos:closeMatch NCIT:C116319 Trisomy 14 Mosaicism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 14 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal trisomy 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 MONDO:0015726 distal trisomy 14q skos:closeMatch Orphanet:1705 Distal trisomy 14q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538034 MONDO:0015727 mosaic trisomy 15 skos:closeMatch Orphanet:1706 Mosaic trisomy 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538037 @@ -27523,46 +27529,46 @@ MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:Lexic MONDO:0015740 trisomy 18p skos:closeMatch Orphanet:1715 Trisomy 18p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538307 MONDO:0015746 male infertility due to globozoospermia skos:closeMatch NCIT:C158500 Globozoospermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label globozoospermia MONDO:0015746 male infertility due to globozoospermia skos:closeMatch OMIM:102530 spermatogenic failure 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia +MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721005 MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon MONDO:0015748 hereditary mucosal leukokeratosis skos:exactMatch OMIM:193900 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym white sponge nevus of cannon -MONDO:0015748 hereditary mucosal leukokeratosis skos:closeMatch Orphanet:171723 White sponge nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1721005 MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome skos:closeMatch Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267187 MONDO:0015753 cap myopathy skos:closeMatch Orphanet:171881 Cap myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3710589 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016410 MONDO:0015758 primary cutaneous T-cell lymphoma skos:closeMatch Orphanet:171901 Primary cutaneous T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011677 -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042971 MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079772 +MONDO:0015760 T-cell non-Hodgkin lymphoma skos:closeMatch Orphanet:171918 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042971 MONDO:0015762 progressive familial intrahepatic cholestasis skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268312 -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008354 -MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008631 +MONDO:0015766 cholera skos:exactMatch NCIT:C86841 Vibrio cholerae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vibrio cholerae MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002771 -MONDO:0015766 cholera skos:exactMatch NCIT:C86841 Vibrio cholerae semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vibrio cholerae +MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008631 +MONDO:0015766 cholera skos:closeMatch Orphanet:173 Cholera semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008354 MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 MONDO:0015767 trisomy 4p skos:closeMatch Orphanet:1738 Trisomy 4p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537643 MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 7 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537822 -MONDO:0015771 mosaic trisomy 7 skos:closeMatch Orphanet:1747 Mosaic trisomy 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 7 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 -MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 -MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 8q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 8q semapv:RegularExpressionReplacement MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795829 -MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form +MONDO:0015772 trisomy 8q skos:closeMatch Orphanet:1752 Trisomy 8q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538020 +MONDO:0015772 trisomy 8q skos:exactMatch NCIT:C36428 Trisomy 8q semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 8q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018902 MONDO:0015776 rhizomelic chondrodysplasia punctata skos:closeMatch Orphanet:177 Rhizomelic chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282529 -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 +MONDO:0015776 rhizomelic chondrodysplasia punctata skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chondrodysplasia punctata, rhizomelic form +MONDO:0015780 dyskeratosis congenita skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoyeraal-hreidarsson syndrome MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hoyeraal-hreidarsson syndrome -MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062759 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265965 MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 -MONDO:0015780 dyskeratosis congenita skos:closeMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoyeraal-hreidarsson syndrome +MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019871 +MONDO:0015780 dyskeratosis congenita skos:closeMatch Orphanet:1775 Dyskeratosis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062759 MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome skos:closeMatch Orphanet:1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931522 -MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068587 MONDO:0015790 central diabetes insipidus skos:exactMatch NCIT:C84933 Neurogenic Diabetes Insipidus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurogenic diabetes insipidus +MONDO:0015790 central diabetes insipidus skos:closeMatch Orphanet:178029 Central diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068587 MONDO:0015791 peripheral precocious puberty skos:exactMatch NCIT:C113219 Gonadotropin-Independent Precocious Puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadotropin-independent precocious puberty MONDO:0015793 moderate multiminicore disease with hand involvement skos:closeMatch Orphanet:178145 Moderate multiminicore disease with hand involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861753 MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita skos:closeMatch Orphanet:178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843691 @@ -27577,18 +27583,18 @@ MONDO:0015805 intestinal botulism skos:closeMatch Orphanet:178481 Intestinal bot MONDO:0015807 myopic macular degeneration skos:closeMatch Orphanet:178493 Myopic macular degeneration semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730271 MONDO:0015808 folliculotropic mycosis fungoides skos:closeMatch Orphanet:178512 Folliculotropic mycosis fungoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1627767 MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 -MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1276140 MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056267 +MONDO:0015809 localized pagetoid reticulosis skos:closeMatch Orphanet:178517 Localized pagetoid reticulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1276140 MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma skos:closeMatch Orphanet:178536 Primary cutaneous marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275321 MONDO:0015814 primary cutaneous follicle center lymphoma skos:closeMatch Orphanet:178540 Primary cutaneous follicle center lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333171 MONDO:0015820 primary cutaneous B-cell lymphoma skos:closeMatch Orphanet:178563 Primary cutaneous B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274310 -MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838348 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537736 +MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch Orphanet:1794 Oculomaxillofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838348 MONDO:0015824 oculomaxillofacial dysostosis skos:closeMatch OMIM:600251 facial clefting, oblique, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculomaxillofacial dysplasia with oblique facial clefts -MONDO:0015827 distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement -MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal renal tubular acidosis +MONDO:0015827 distal renal tubular acidosis skos:exactMatch NCIT:C123217 Distal Renal Tubular Acidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal renal tubular acidosis +MONDO:0015827 distal renal tubular acidosis skos:exactMatch OMIM:179800 renal tubular acidosis, distal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal tubular acidosis type 1 semapv:RegularExpressionReplacement MONDO:0015827 distal renal tubular acidosis skos:closeMatch Orphanet:18 Distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045224 MONDO:0015830 partial bilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180068 Partial bilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partial bilateral aplasia of the müllerian ducts MONDO:0015831 unilateral aplasia of the mullerian ducts skos:closeMatch Orphanet:180071 Unilateral aplasia of the Müllerian ducts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unilateral aplasia of the müllerian ducts @@ -27596,73 +27602,73 @@ MONDO:0015834 didelphys uterus skos:closeMatch Orphanet:180086 Didelphys uterus MONDO:0015839 septate uterus skos:closeMatch Orphanet:180122 Septate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062606 MONDO:0015842 bicornuate uterus skos:closeMatch Orphanet:180134 Bicornuate uterus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004550 MONDO:0015843 uterine hypoplasia skos:closeMatch Orphanet:180139 Uterine hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063146 -MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049786 MONDO:0015854 supernumerary breasts skos:exactMatch OMIM:163700 nipples, supernumerary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymastia +MONDO:0015854 supernumerary breasts skos:closeMatch Orphanet:180182 Supernumerary breasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049786 MONDO:0015863 polyembryoma skos:closeMatch Orphanet:180229 Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334518 MONDO:0015863 polyembryoma skos:closeMatch NCIT:C66776 Gonadal Polyembryoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonadal polyembryoma MONDO:0015864 mixed germ cell tumor skos:closeMatch Orphanet:180234 Mixed germ cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334524 MONDO:0015867 vaginal carcinoma skos:closeMatch Orphanet:180247 Vaginal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262659 MONDO:0015871 benign breast phyllodes tumor skos:closeMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011813 -MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704323 MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033367 +MONDO:0015873 Paget disease of the nipple skos:closeMatch Orphanet:180275 Paget disease of the nipple semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704323 MONDO:0015883 hidrotic ectodermal dysplasia, Halal type skos:closeMatch Orphanet:1809 Hidrotic ectodermal dysplasia, Halal type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930953 -MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:633 Laron syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015892 growth hormone insensitivity syndrome skos:exactMatch OMIM:262500 laron syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym growth hormone insensitivity syndrome -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 -MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061630 +MONDO:0015892 growth hormone insensitivity syndrome skos:closeMatch Orphanet:181393 Growth hormone insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271568 MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0302280 -MONDO:0015898 adrenogenital syndrome skos:closeMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 +MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047808 +MONDO:0015898 adrenogenital syndrome skos:closeMatch NCIT:C34360 Congenital Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital adrenal hyperplasia +MONDO:0015898 adrenogenital syndrome skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061630 MONDO:0015900 hypoaldosteronism disease skos:closeMatch Orphanet:181419 Rare hypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020595 MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:181428 Hyperalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 MONDO:0015903 hyperalphalipoproteinemia skos:closeMatch Orphanet:79506 Cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342883 MONDO:0015905 syndromic dyslipidemia skos:closeMatch Orphanet:181437 Rare syndromic dyslipidemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare syndromic dyslipidemia -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 -MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008803 MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008582 +MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008803 +MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 MONDO:0015908 chromomycosis skos:closeMatch Orphanet:182 Chromomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002862 -MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplastic anemia MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aplastic anemia +MONDO:0015909 aplastic anemia skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplastic anemia MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with dispersed leukocytic inclusions -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym matins -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, and deafness MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia with leukocyte inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dohle leukocyte inclusions with giant platelets MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alport syndrome with macrothrombocytopenia, formerly +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrothrombocytopenia, nephritis, and deafness MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131650 Sebastian Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sebastian syndrome -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155100 -MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym matins MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131642 Fechtner Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fechtner syndrome +MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:closeMatch Orphanet:182050 MYH9-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155100 MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss skos:exactMatch NCIT:C131639 Epstein Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label epstein syndrome MONDO:0015914 primary orthostatic hypotension skos:closeMatch NCIT:C170885 Neurogenic Orthostatic Hypotension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurogenic orthostatic hypotension MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary arterial hypertension +MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension skos:closeMatch NCIT:C97119 Idiopathic Pulmonary Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic pulmonary hypertension MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064911 -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pulmonary arterial hypertension MONDO:0015924 pulmonary arterial hypertension skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2973725 -MONDO:0015924 pulmonary arterial hypertension skos:exactMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pulmonary arterial hypertension +MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206062 MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017563 MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022611 -MONDO:0015925 interstitial lung disease skos:closeMatch Orphanet:182095 Interstitial lung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206062 +MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035653 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032273 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 -MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035653 MONDO:0015926 pneumoconiosis skos:closeMatch Orphanet:182098 Pneumoconiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011009 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 -MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206660 MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018207 +MONDO:0015935 extragonadal germinoma skos:closeMatch Orphanet:182127 Extragonadal germinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018237 MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 MONDO:0015942 frontometaphyseal dysplasia skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538064 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048594 -MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008728 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048594 MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015267 +MONDO:0015943 eosinophilic granulomatosis with polyangiitis skos:closeMatch Orphanet:183 Eosinophilic granulomatosis with polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008728 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931613 MONDO:0015944 axial mesodermal dysplasia spectrum skos:closeMatch Orphanet:1834 Axial mesodermal dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537790 @@ -27673,16 +27679,16 @@ MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 S MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069566 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016511 MONDO:0015974 severe combined immunodeficiency skos:closeMatch Orphanet:183660 Severe combined immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085110 +MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001471 MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 -MONDO:0015977 agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypogammaglobulinemia MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000361 -MONDO:0015977 agammaglobulinemia skos:closeMatch Orphanet:183669 Agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001471 +MONDO:0015977 agammaglobulinemia skos:exactMatch NCIT:C26931 Hypogammaglobulinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypogammaglobulinemia MONDO:0015986 bilateral renal agenesis skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis, bilateral -MONDO:0015987 scimitar syndrome skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051951 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 -MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012587 +MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036400 +MONDO:0015987 scimitar syndrome skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051951 +MONDO:0015987 scimitar syndrome skos:exactMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym scimitar syndrome MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 @@ -27690,86 +27696,86 @@ MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:1851 Multic MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97363 Unilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 MONDO:0015988 multicystic dysplastic kidney skos:closeMatch Orphanet:97364 Bilateral multicystic dysplastic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021782 -MONDO:0015991 citrullinemia skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175683 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 MONDO:0015991 citrullinemia skos:closeMatch Orphanet:187 Citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020159 +MONDO:0015991 citrullinemia skos:closeMatch Orphanet:247525 Citrullinemia type I semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency MONDO:0015991 citrullinemia skos:closeMatch OMIM:215700 citrullinemia, classic semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ass deficiency -MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cone-rod retinal dystrophy MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy +MONDO:0015993 cone-rod dystrophy skos:exactMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cone-rod dystrophy MONDO:0015993 cone-rod dystrophy skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone rod dystrophy MONDO:0015995 melorheostosis with osteopoikilosis skos:closeMatch Orphanet:1879 Melorheostosis with osteopoikilosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931505 -MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 +MONDO:0015998 isolated ectopia lentis skos:closeMatch NCIT:C34566 Congenital Ectopic Lens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital ectopic lens MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014145 MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 -MONDO:0015998 isolated ectopia lentis skos:closeMatch NCIT:C34566 Congenital Ectopic Lens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital ectopic lens +MONDO:0015998 isolated ectopia lentis skos:closeMatch Orphanet:1885 Isolated ectopia lentis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536184 MONDO:0016001 2-hydroxyglutaric aciduria skos:closeMatch Orphanet:19 2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2746066 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keds -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NCIT:C125700 Ehlers-Danlos Syndrome, Type VI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type vi +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds via MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kyphoscoliotic ehlers-danlos syndrome -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kyphoscoliotic eds MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds vi -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym ehlers-danlos syndrome type 6a -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268342 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch NCIT:C125700 Ehlers-Danlos Syndrome, Type VI semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type vi MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym eds via -MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, kyphoscoliotic type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch Orphanet:536545 Kyphoscoliotic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kyphoscoliotic eds MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 -MONDO:0016003 ehrlichiosis skos:narrowMatch ICD10CM:A77.49 Other ehrlichiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ehrlichiosis semapv:RegularExpressionReplacement MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085399 -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071183 -MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch NCIT:C98928 Fetal Methotrexate Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal methotrexate syndrome +MONDO:0016003 ehrlichiosis skos:narrowMatch ICD10CM:A77.49 Other ehrlichiosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ehrlichiosis semapv:RegularExpressionReplacement +MONDO:0016003 ehrlichiosis skos:closeMatch Orphanet:1902 Ehrlichiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016873 MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432367 +MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch NCIT:C98928 Fetal Methotrexate Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal methotrexate syndrome +MONDO:0016004 aminopterin/methotrexate embryofetopathy skos:closeMatch Orphanet:1908 Aminopterin/methotrexate embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071183 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009207 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003057 MONDO:0016006 Cockayne syndrome skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009835 MONDO:0016007 cocaine embryofetopathy skos:closeMatch Orphanet:1911 Cocaine embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432371 -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 +MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265372 MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537922 MONDO:0016008 fetal hydantoin syndrome skos:exactMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fetal hydantoin syndrome -MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265372 +MONDO:0016008 fetal hydantoin syndrome skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016508 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265373 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 MONDO:0016009 fetal trimethadione syndrome skos:closeMatch Orphanet:1913 Fetal trimethadione syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537798 +MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265374 MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vitamin k antagonist embryofetopathy MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051445 -MONDO:0016010 vitamin K-antagonist embryofetopathy skos:closeMatch Orphanet:1914 Vitamin K antagonist embryofetopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265374 MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alcohol-related birth defects -MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015923 MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016845 -MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853695 +MONDO:0016011 fetal alcohol syndrome skos:closeMatch Orphanet:1915 Fetal alcohol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015923 MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012780 +MONDO:0016012 diethylstilbestrol syndrome skos:closeMatch Orphanet:1916 Diethylstilbestrol syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0853695 MONDO:0016013 fetal methylmercury syndrome skos:closeMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym minamata disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016014 fetal minoxidil syndrome skos:closeMatch Orphanet:1918 Fetal minoxidil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432373 MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535291 -MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930868 MONDO:0016019 Rasmussen subacute encephalitis skos:exactMatch OMIM:133705 external auditory canal, bilateral atresia of, with congenital vertical talus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rasmussen syndrome +MONDO:0016019 Rasmussen subacute encephalitis skos:closeMatch Orphanet:1929 Rasmussen subacute encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930868 MONDO:0016022 early myoclonic encephalopathy skos:closeMatch Orphanet:1935 Early myoclonic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270855 MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch OMIM:616421 myoclonic-atonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae MONDO:0016025 myoclonic-astastic epilepsy skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mae -MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:140927 Benign familial neonatal-infantile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 +MONDO:0016027 benign neonatal seizures skos:closeMatch Orphanet:1949 Benign familial neonatal epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067866 MONDO:0016029 esthesioneuroblastoma skos:closeMatch NCIT:C3789 Olfactory Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label olfactory neuroblastoma MONDO:0016029 esthesioneuroblastoma skos:closeMatch Orphanet:1957 Esthesioneuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olfactory neuroblastoma -MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272126 MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053873 -MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 +MONDO:0016030 Evans syndrome skos:closeMatch Orphanet:1959 Evans syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272126 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931183 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 -MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachmann-de lange syndrome +MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome skos:closeMatch Orphanet:1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536384 MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270972 MONDO:0016033 Cornelia de Lange syndrome skos:closeMatch Orphanet:199 Cornelia de Lange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056354 -MONDO:0016035 Nelson syndrome skos:closeMatch OMIM:125550 dermal ridges-off-the-end semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ridges-off-the-end syndrome +MONDO:0016033 Cornelia de Lange syndrome skos:exactMatch OMIM:122470 cornelia lange lange syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brachmann-de lange syndrome MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027577 MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028913 MONDO:0016035 Nelson syndrome skos:closeMatch Orphanet:199244 Nelson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009347 +MONDO:0016035 Nelson syndrome skos:closeMatch OMIM:125550 dermal ridges-off-the-end semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ridges-off-the-end syndrome MONDO:0016037 superficial Fibromatosis skos:closeMatch Orphanet:199257 Superficial fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406571 MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0553647 MONDO:0016038 calcified aponeurotic fibroma skos:closeMatch Orphanet:199260 Calcifying aponeurotic fibroma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label calcifying aponeurotic fibroma @@ -27781,37 +27787,37 @@ MONDO:0016040 harlequin syndrome skos:closeMatch Orphanet:199282 Harlequin syndr MONDO:0016043 isolated cleft lip skos:closeMatch Orphanet:199302 Isolated cleft lip semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009259 MONDO:0016044 cleft lip/palate skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009260 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014236 -MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014801 MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 +MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014801 MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.19 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement MONDO:0016047 endophthalmitis skos:narrowMatch ICD10WHO:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement MONDO:0016047 endophthalmitis skos:narrowMatch ICD10CM:H44.1 Other endophthalmitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym endophthalmitis semapv:RegularExpressionReplacement MONDO:0016047 endophthalmitis skos:closeMatch Orphanet:199323 Endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009877 MONDO:0016051 cleft lip-retinopathy syndrome skos:closeMatch Orphanet:1995 Cleft lip-retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931789 MONDO:0016052 atypical autism skos:closeMatch Orphanet:199627 Atypical autism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003747 -MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027534 MONDO:0016056 isolated congenital microcephaly skos:exactMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym true microcephaly -MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014617 +MONDO:0016056 isolated congenital microcephaly skos:closeMatch Orphanet:199642 Isolated congenital microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027534 MONDO:0016057 isolated encephalocele skos:closeMatch NCIT:C84687 Encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalocele -MONDO:0016063 Cowden disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple hamartoma syndrome +MONDO:0016057 isolated encephalocele skos:closeMatch Orphanet:199647 Isolated encephalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014617 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006223 -MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051906 +MONDO:0016063 Cowden disease skos:closeMatch Orphanet:201 Cowden syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018553 MONDO:0016063 Cowden disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 -MONDO:0016064 cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft palate +MONDO:0016063 Cowden disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple hamartoma syndrome MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008925 -MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009269 MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002972 +MONDO:0016064 cleft palate skos:closeMatch Orphanet:2014 Cleft palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009269 +MONDO:0016064 cleft palate skos:exactMatch OMIM:119540 cleft palate, isolated semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cleft palate MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 -MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931507 MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537489 +MONDO:0016066 sternal cleft skos:closeMatch Orphanet:2017 Sternal cleft semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931507 MONDO:0016067 Crandall syndrome skos:closeMatch Orphanet:202 Crandall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432348 MONDO:0016070 hereditary gingival fibromatosis skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0399440 +MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016085 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016674 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 -MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016085 MONDO:0016075 filariasis skos:closeMatch Orphanet:2034 Filariasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005368 MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537782 MONDO:0016077 congenital aortopulmonary window skos:closeMatch Orphanet:2037 Congenital aortopulmonary window semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931610 @@ -27824,8 +27830,8 @@ MONDO:0016083 FLOTCH syndrome skos:closeMatch Orphanet:2045 FLOTCH syndrome sema MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535963 MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535963 MONDO:0016085 Cole-Carpenter syndrome skos:closeMatch Orphanet:2050 Cole-Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862178 -MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 deficiency +MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency skos:exactMatch OMIM:300322 lesch-nyhan syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563671 Mucinous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mucinous cystadenoma of ovary in childhood MONDO:0016092 serous or mucinous cystadenoma of childhood skos:exactMatch Orphanet:563666 Serous cystadenoma of childhood semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym serous cystadenoma of ovary in childhood MONDO:0016093 borderline epithelial tumor of ovary skos:closeMatch Orphanet:206473 Borderline epithelial tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665489 @@ -27833,73 +27839,73 @@ MONDO:0016094 vaginal germ cell malignant tumor skos:closeMatch Orphanet:206489 MONDO:0016095 vaginal rhabdomyosarcoma skos:closeMatch Orphanet:206492 Vulvovaginal rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vulvovaginal rhabdomyosarcoma MONDO:0016101 neurolymphomatosis skos:closeMatch NCIT:C84884 Marek Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marek disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016107 myotonic dystrophy skos:closeMatch NCIT:C84913 Myotonic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonic disorder semapv:RegularExpressionReplacement -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068871 -MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027126 +MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068871 +MONDO:0016107 myotonic dystrophy skos:closeMatch Orphanet:206647 Myotonic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009223 MONDO:0016115 bulbospinal muscular atrophy of adulthood skos:closeMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bulbospinal muscular atrophy of adult MONDO:0016117 muscular lipidosis skos:closeMatch Orphanet:206953 Muscular lipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410214 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 -MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:206970 Myotonic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028658 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 +MONDO:0016120 myotonic syndrome skos:closeMatch Orphanet:606 Proximal myotonic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020967 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279412 -MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016208 MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010245 -MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051512 +MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016208 +MONDO:0016122 periodic paralysis skos:closeMatch Orphanet:206976 Periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279412 MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0150005 +MONDO:0016126 viral myositis skos:closeMatch Orphanet:206991 Viral myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051512 MONDO:0016128 parasitic myositis skos:closeMatch Orphanet:206997 Parasitic myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263997 -MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262481 MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017902 +MONDO:0016129 eosinophilic gastroenteritis skos:closeMatch Orphanet:2070 Eosinophilic gastroenteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262481 MONDO:0016130 fungal myositis skos:closeMatch Orphanet:207000 Fungal myositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410251 MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan skos:exactMatch Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-sarcoglycanopathy -MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-sarcoglycanopathy MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:closeMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930900 +MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan skos:exactMatch Orphanet:119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-sarcoglycanopathy MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan skos:closeMatch Orphanet:353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym gamma-sarcoglycanopathy MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan skos:exactMatch Orphanet:219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym delta-sarcoglycanopathy MONDO:0016145 qualitative or quantitative defects of dysferlin skos:closeMatch Orphanet:207073 Qualitative or quantitative defects of dysferlin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931687 MONDO:0016158 narcolepsy-cataplexy syndrome skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028713 -MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931587 MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537678 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752125 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164500 -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement +MONDO:0016159 Gemignani syndrome skos:closeMatch Orphanet:2074 Gemignani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931587 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with macular degeneration and external ophthalmoplegia +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with retinal degeneration MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym olivopontocerebellar atrophy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch OMIM:164500 spinocerebellar ataxia 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opca with retinal degeneration +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752125 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164500 +MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch Orphanet:94147 Spinocerebellar ataxia type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016163 autosomal dominant cerebellar ataxia type II skos:closeMatch NCIT:C126562 Spinocerebellar Ataxia Type 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 7 semapv:RegularExpressionReplacement MONDO:0016167 optic pathway glioma skos:closeMatch Orphanet:2086 Optic pathway glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796418 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068850 -MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2316212 MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056587 +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2316212 +MONDO:0016168 cryopyrin-associated periodic syndrome skos:closeMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068850 +MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003483 -MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011692 MONDO:0016175 cutis laxa skos:closeMatch Orphanet:209 Cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010495 MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:closeMatch Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1836081 MONDO:0016202 autosomal dominant rhegmatogenous retinal detachment skos:exactMatch OMIM:609508 stickler syndrome, iia i, nonsyndromic ocular semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rhegmatogenous retinal detachment, autosomal dominant MONDO:0016205 IRVAN syndrome skos:closeMatch Orphanet:209943 IRVAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3665812 -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lens-induced iridocyclitis -MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152137 MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339320 +MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152137 +MONDO:0016207 phacoanaphylactic uveitis skos:closeMatch Orphanet:209959 Phacoanaphylactic uveitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lens-induced iridocyclitis MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood skos:closeMatch Orphanet:209973 Benign nocturnal alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign nocturnal alternating hemiplegia of childhood MONDO:0016215 spastic quadriplegic cerebral palsy skos:closeMatch Orphanet:210141 Inherited congenital spastic tetraplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inherited congenital spastic tetraplegia +MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mal de débarquement +MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608983 MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064924 MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537840 -MONDO:0016217 mal de Debarquement skos:closeMatch Orphanet:210272 Mal de débarquement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608983 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 +MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018378 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020275 MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018767 -MONDO:0016218 Guillain-Barre syndrome skos:closeMatch Orphanet:2103 Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018378 MONDO:0016222 spindle cell hemangioma skos:closeMatch Orphanet:210584 Spindle cell hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1304508 MONDO:0016226 specific language disorder skos:exactMatch NCIT:C35546 Dysphasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dysphasia MONDO:0016227 hereditary episodic ataxia skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isaacs syndrome @@ -27907,119 +27913,119 @@ MONDO:0016231 capillary malformation skos:closeMatch Orphanet:211247 Rare capill MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1367420 MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 MONDO:0016236 kaposiform hemangioendothelioma skos:closeMatch Orphanet:2122 Kaposiform hemangioendothelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537007 -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018825 -MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266119 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006393 +MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266119 +MONDO:0016238 solitary fibrous tumor skos:closeMatch Orphanet:2126 Solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018825 MONDO:0016238 solitary fibrous tumor skos:closeMatch NCIT:C3087 Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiopericytoma MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 +MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011777 MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010690 -MONDO:0016239 cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003554 MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018987 MONDO:0016240 hemimelia skos:closeMatch Orphanet:2130 Hemimelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019464 +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 +MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alternating hemiplegia MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label adrenal hypoplasia congenita MONDO:0016241 alternating hemiplegia of childhood skos:exactMatch Orphanet:595337 Adrenal hypoplasia congenita semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital adrenal hypoplasia MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536589 MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:2131 Alternating hemiplegia of childhood semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338488 -MONDO:0016241 alternating hemiplegia of childhood skos:closeMatch Orphanet:209978 Alternating hemiplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alternating hemiplegia +MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018883 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019021 MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 -MONDO:0016242 hemoglobin C disease skos:closeMatch Orphanet:2132 Hemoglobin C disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006445 MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238159 MONDO:0016243 hemoglobin E disease skos:closeMatch Orphanet:2133 Hemoglobin E disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053215 MONDO:0016244 atypical hemolytic-uremic syndrome skos:closeMatch Orphanet:2134 Atypical hemolytic uremic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931788 MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mixed epithelial and mesenchymal cancer of corpus uteri MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm skos:closeMatch Orphanet:213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant mixed epithelial and mesenchymal tumor of corpus uteri -MONDO:0016256 Hennekam syndrome skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome MONDO:0016256 Hennekam syndrome skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340834 +MONDO:0016256 Hennekam syndrome skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome MONDO:0016258 uterine corpus carcinofibroma skos:closeMatch Orphanet:213605 Carcinofibroma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinofibroma of the corpus uteri MONDO:0016260 uterine corpus rhabdomyosarcoma skos:closeMatch Orphanet:213615 Rhabdomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdomyosarcoma of the corpus uteri MONDO:0016262 leiomyosarcoma of the corpus uteri skos:closeMatch Orphanet:213625 Leiomyosarcoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280631 -MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0241910 MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003827 +MONDO:0016264 autoimmune hepatitis skos:closeMatch Orphanet:2137 Autoimmune hepatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0241910 MONDO:0016264 autoimmune hepatitis skos:closeMatch NCIT:C27778 Autoimmune Hepatitis with Centrilobular Necrosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autoimmune hepatitis with centrilobular necrosis MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch NCIT:C8719 Endometrial Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial squamous cell carcinoma MONDO:0016266 squamous cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213716 Squamous cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial squamous cell carcinoma -MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch NCIT:C40156 Endometrial Undifferentiated Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial undifferentiated carcinoma -MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch NCIT:C40154 Endometrial Transitional Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial transitional cell carcinoma +MONDO:0016267 undifferentiated carcinoma of the corpus uteri skos:closeMatch Orphanet:213721 Undifferentiated carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial undifferentiated carcinoma MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch Orphanet:213746 Transitional cell carcinoma of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endometrial transitional cell carcinoma +MONDO:0016272 transitional cell carcinoma of the corpus uteri skos:closeMatch NCIT:C40154 Endometrial Transitional Cell Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label endometrial transitional cell carcinoma MONDO:0016273 malignant germ cell tumor of corpus uteri skos:closeMatch Orphanet:213751 Malignant germ cell tumor of the corpus uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the corpus uteri MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch NCIT:C85207 True Hermaphroditism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label true hermaphroditism +MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 MONDO:0016281 46,XX ovotesticular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovotesticular dsd -MONDO:0016281 46,XX ovotesticular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050090 -MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch NCIT:C40213 Cervical Adenoid Basal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical adenoid basal carcinoma MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch Orphanet:213828 Adenoid basal carcinoma of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cervical adenoid basal carcinoma +MONDO:0016287 adenoid basal carcinoma of the cervix uteri skos:closeMatch NCIT:C40213 Cervical Adenoid Basal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cervical adenoid basal carcinoma MONDO:0016289 malignant germ cell tumor of cervix uteri skos:closeMatch Orphanet:213837 Malignant germ cell tumor of the cervix uteri semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant germ cell tumor of the cervix uteri MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538112 MONDO:0016290 Hernández-Aguirre Negrete syndrome skos:closeMatch Orphanet:2139 Hernández-Aguirre Negrete syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538112 MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 MONDO:0016293 congenital stationary night blindness skos:closeMatch Orphanet:215 Congenital stationary night blindness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536122 -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306980 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1844017 -MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:306980 -MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 +MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome skos:closeMatch Orphanet:2150 Hirschsprung disease-type D brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538319 MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:168486 Congenital neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 -MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056304 +MONDO:0016295 neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:216 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027877 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 +MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056304 MONDO:0016296 holoprosencephaly skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016142 MONDO:0016301 congenitally corrected transposition of the great arteries skos:closeMatch Orphanet:216694 Congenitally corrected transposition of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011120 -MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023524 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036807 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007968 +MONDO:0016318 progressive multifocal leukoencephalopathy skos:closeMatch Orphanet:217260 Progressive multifocal leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023524 MONDO:0016322 neuroendocrine cell hyperplasia of infancy skos:closeMatch Orphanet:217560 Neuroendocrine cell hyperplasia of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3161105 MONDO:0016331 infantile systemic hyalinosis skos:closeMatch Orphanet:2176 Infantile systemic hyalinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:236490 +MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536231 -MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 +MONDO:0016333 familial dilated cardiomyopathy skos:closeMatch Orphanet:217607 Familial dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340427 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006832 MONDO:0016344 hydranencephaly skos:closeMatch Orphanet:2177 Hydranencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020225 MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010506 MONDO:0016349 congenital hydrocephalus skos:closeMatch Orphanet:2185 Congenital hydrocephalus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020256 -MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement -MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement -MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement +MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10CM:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement +MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement +MONDO:0016349 congenital hydrocephalus skos:narrowMatch ICD10WHO:Q03.8 Other congenital hydrocephalus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital hydrocephalus semapv:RegularExpressionReplacement MONDO:0016352 idiopathic inherited hypercalciuria skos:closeMatch Orphanet:2197 Idiopathic hypercalciuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypercalciuria MONDO:0016358 limited cutaneous systemic sclerosis skos:closeMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0748540 MONDO:0016359 limited systemic sclerosis skos:closeMatch Orphanet:220407 Limited systemic sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290138 MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 -MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2674616 -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch NCIT:C148259 Joubert Syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016362 attenuated familial adenomatous polyposis skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538265 MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012503 -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis +MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch OMIM:608629 joubert syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016364 Joubert syndrome with ocular defect skos:closeMatch NCIT:C148259 Joubert Syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:closeMatch NCIT:C27313 Adult Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult dermatomyositis MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012503 +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011633 MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003882 MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement +MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016367 dermatomyositis skos:narrowMatch ICD10WHO:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement -MONDO:0016367 dermatomyositis skos:closeMatch NCIT:C27313 Adult Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult dermatomyositis -MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011633 +MONDO:0016367 dermatomyositis skos:closeMatch Orphanet:221 Dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym adult dermatomyositis MONDO:0016367 dermatomyositis skos:narrowMatch ICD10CM:M33.1 Other dermatomyositis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermatomyositis semapv:RegularExpressionReplacement MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch OMIM:618625 rothmund-thomson syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poikiloderma atrophicans and cataract MONDO:0016368 Rothmund-Thomson syndrome type 1 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618625 -MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221008 Rothmund-Thomson syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 +MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:221016 Rothmund-Thomson syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 MONDO:0016369 Rothmund-Thomson syndrome type 2 skos:closeMatch Orphanet:2909 Rothmund-Thomson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268400 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054319 -MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238265 -MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154731 +MONDO:0016370 Marchiafava-Bignami disease skos:closeMatch Orphanet:221074 Marchiafava-Bignami disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026828 MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018391 +MONDO:0016372 glossopharyngeal neuralgia skos:closeMatch Orphanet:221098 Glossopharyngeal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154731 MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym facial neuralgia MONDO:0016374 cranial neuralgia skos:closeMatch Orphanet:221109 Cranial neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010269 MONDO:0016379 erosive pustular dermatosis of the scalp skos:closeMatch Orphanet:222 Erosive pustular dermatosis of the scalp semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406464 @@ -28028,35 +28034,35 @@ MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 MONDO:0016381 hypertrichosis lanuginosa congenita skos:closeMatch Orphanet:2222 Hypertrichosis lanuginosa congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145700 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018500 -MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029147 +MONDO:0016383 nephrogenic diabetes insipidus skos:closeMatch Orphanet:223 Nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162283 MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome skos:closeMatch Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931685 MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome skos:closeMatch Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931722 -MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832648 MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537156 MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537156 -MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028933 +MONDO:0016390 familial hypoparathyroidism skos:closeMatch Orphanet:2238 Familial isolated hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832648 MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0158981 +MONDO:0016391 neonatal diabetes mellitus skos:closeMatch Orphanet:224 Neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028933 MONDO:0016395 foveal hypoplasia-presenile cataract syndrome skos:closeMatch Orphanet:2253 Foveal hypoplasia-presenile cataract syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931644 MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 -MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843504 +MONDO:0016396 pontocerebellar hypoplasia type 1 skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548069 MONDO:0016410 central congenital hypothyroidism skos:exactMatch OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tsh deficiency -MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial -MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial male -MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114480 MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346153 +MONDO:0016419 hereditary breast carcinoma skos:closeMatch Orphanet:227535 Hereditary breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114480 +MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial male +MONDO:0016419 hereditary breast carcinoma skos:closeMatch OMIM:114480 breast cancer semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym breast cancer, familial MONDO:0016421 toxic oil syndrome skos:closeMatch Orphanet:227972 Toxic oil syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051222 MONDO:0016422 autoimmune polyendocrinopathy type 3 skos:closeMatch Orphanet:227982 Autoimmune polyendocrinopathy type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535942 MONDO:0016426 fusariosis skos:closeMatch Orphanet:228119 Fusariosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051919 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 -MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010252 MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label baló concentric sclerosis +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010252 +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:726 Alpers-Huttenlocher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205710 -MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atriodigital dysplasia +MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder +MONDO:0016430 Balo concentric sclerosis skos:closeMatch Orphanet:228165 Baló concentric sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004712 MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym heart-hand syndrome +MONDO:0016432 heart-hand syndrome skos:exactMatch OMIM:142900 holt-oram syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atriodigital dysplasia MONDO:0016438 linear focal dermal elastosis skos:closeMatch Orphanet:228236 Linear focal elastosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label linear focal elastosis MONDO:0016439 elastoderma skos:closeMatch Orphanet:228240 Elastoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406555 MONDO:0016441 acquired pseudoxanthoma elasticum skos:closeMatch Orphanet:228247 Acquired pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274759 @@ -28065,19 +28071,19 @@ MONDO:0016446 acquired cutis laxa skos:closeMatch Orphanet:228285 Acquired cutis MONDO:0016453 foodborne botulism skos:closeMatch Orphanet:228371 Foodborne botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739094 MONDO:0016455 virus-associated trichodysplasia spinulosa skos:closeMatch Orphanet:228379 Virus-associated trichodysplasia spinulosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267126 MONDO:0016464 insulin-resistance syndrome type B skos:closeMatch Orphanet:2298 Insulin-resistance syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342337 -MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asbestos intoxication MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003949 -MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pachyonychia congenita type 1 semapv:RegularExpressionReplacement -MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265334 -MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pachyonychia congenita type 1 semapv:RegularExpressionReplacement +MONDO:0016466 asbestosis skos:closeMatch Orphanet:2302 Asbestos intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label asbestos intoxication MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 +MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym pachyonychia congenita type 1 semapv:RegularExpressionReplacement MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053549 -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 -MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 +MONDO:0016471 pachyonychia congenita skos:closeMatch OMIM:167200 pachyonychia congenita 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label pachyonychia congenita type 1 semapv:RegularExpressionReplacement +MONDO:0016471 pachyonychia congenita skos:closeMatch Orphanet:2309 Pachyonychia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265334 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013100 MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013618 -MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263591 +MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 +MONDO:0016472 dracunculiasis skos:closeMatch Orphanet:231 Dracunculiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004320 MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013706 +MONDO:0016474 drug-induced lupus erythematosus skos:closeMatch Orphanet:231111 Drug-induced lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263591 MONDO:0016483 intracranial berry aneurysm skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cerebral saccular aneurysm MONDO:0016484 Usher syndrome type 2 skos:closeMatch Orphanet:231178 Usher syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339534 MONDO:0016485 Usher syndrome type 3 skos:closeMatch Orphanet:231183 Usher syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1568248 @@ -28094,35 +28100,35 @@ MONDO:0016496 pharyngeal-cervical-brachial variant of Guillain-Barre syndrome sk MONDO:0016497 paraparetic variant of Guillain-Barre syndrome skos:closeMatch Orphanet:231445 Paraparetic variant of Guillain-Barré syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraparetic variant of guillain-barré syndrome MONDO:0016499 acute pandysautonomia skos:closeMatch Orphanet:231457 Acute pandysautonomia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315246 MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:closeMatch Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenocortical carcinoma with pure aldosterone hypersecretion -MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063935 -MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kabuki make-up syndrome MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 -MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kabuki syndrome MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym niikawa-kuroki syndrome MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796004 -MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 +MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kabuki syndrome +MONDO:0016512 Kabuki syndrome skos:exactMatch OMIM:147920 kabuki syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kabuki make-up syndrome +MONDO:0016512 Kabuki syndrome skos:closeMatch Orphanet:2322 Kabuki syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537705 MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265291 MONDO:0016516 Kenny-Caffey syndrome skos:exactMatch OMIM:127000 kenny-caffey syndrome, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kenny syndrome -MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome +MONDO:0016516 Kenny-Caffey syndrome skos:closeMatch Orphanet:2333 Kenny-Caffey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537020 MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome +MONDO:0016521 muscular pseudohypertrophy-hypothyroidism syndrome skos:closeMatch Orphanet:567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hoffman syndrome MONDO:0016522 Kousseff syndrome skos:closeMatch Orphanet:2351 Kousseff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931444 -MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064585 MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 +MONDO:0016523 bronchogenic cyst skos:closeMatch Orphanet:2357 Bronchogenic cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001994 MONDO:0016525 familial hyperaldosteronism skos:closeMatch Orphanet:235936 Familial hyperaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3713420 MONDO:0016526 trisomy 9p skos:closeMatch Orphanet:236 Trisomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265428 MONDO:0016528 limb body wall complex skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym body stalk anomaly -MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023885 MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265761 -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly and epileptic encephalopathy -MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly and epileptic encephalopathy +MONDO:0016530 laryngocele skos:closeMatch Orphanet:2372 Laryngocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023885 MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048816 MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238111 -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly and epileptic encephalopathy +MONDO:0016532 Lennox-Gastaut syndrome skos:closeMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly and epileptic encephalopathy MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:305100 ectodermal dysplasia 1, hypohidrotic, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome +MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch OMIM:224900 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia, hypohidrotic MONDO:0016536 autosomal recessive lymphoproliferative disease skos:exactMatch OMIM:615122 lymphoproliferative syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cd27 deficiency MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 MONDO:0016537 lymphoproliferative syndrome skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008232 @@ -28132,43 +28138,43 @@ MONDO:0016546 primary orthostatic tremor skos:closeMatch Orphanet:238606 Primary MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 MONDO:0016557 leukonychia totalis skos:closeMatch Orphanet:2387 Leukonychia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535889 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024797 -MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 +MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023968 MONDO:0016566 loiasis skos:closeMatch Orphanet:2404 Loiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008118 MONDO:0016567 locked-in syndrome skos:closeMatch Orphanet:2406 Locked-in syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024792 MONDO:0016568 Lowe-Kohn-Cohen syndrome skos:closeMatch Orphanet:2408 Lowe-Kohn-Cohen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931080 MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0519063 MONDO:0016570 primary pulmonary lymphoma skos:closeMatch Orphanet:2420 Primary pulmonary lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037418 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1455728 -MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000746 +MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537957 +MONDO:0016573 acute fatty liver of pregnancy skos:closeMatch Orphanet:243367 Acute fatty liver of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1455728 MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome skos:closeMatch Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835172 -MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kartagener syndrome -MONDO:0016575 primary ciliary dyskinesia skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome MONDO:0016575 primary ciliary dyskinesia skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069713 -MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split-hand deformity -MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectrodactyly +MONDO:0016575 primary ciliary dyskinesia skos:closeMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siewert syndrome +MONDO:0016575 primary ciliary dyskinesia skos:exactMatch OMIM:244400 ciliary dyskinesia, primary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kartagener syndrome MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265554 MONDO:0016576 split hand-foot malformation skos:closeMatch Orphanet:2440 Isolated split hand-split foot malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated split hand-split foot malformation -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome -MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interrupted aortic arch +MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym split-hand deformity +MONDO:0016576 split hand-foot malformation skos:exactMatch OMIM:183600 split-hand/foot malformation 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ectrodactyly +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double-outlet right ventricle -MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 -MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent truncus arteriosus MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:2445 Conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857586 +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:3384 Truncus arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:217095 +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym double-outlet right ventricle +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym persistent truncus arteriosus MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym truncus arteriosus communis -MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221013 +MONDO:0016581 conotruncal heart malformations skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch +MONDO:0016581 conotruncal heart malformations skos:closeMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interrupted aortic arch +MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98880 Persistent Truncus Arteriosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label persistent truncus arteriosus MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042949 +MONDO:0016586 systemic mastocytosis skos:closeMatch Orphanet:2467 Systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221013 +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349788 MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019571 -MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058093 +MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy skos:closeMatch Orphanet:247 Arrhythmogenic right ventricular cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349788 MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155866 MONDO:0016595 inhalational anthrax skos:closeMatch Orphanet:247257 Inhalational anthrax semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035667 MONDO:0016596 hyperphosphatasia-intellectual disability syndrome skos:exactMatch OMIM:239300 hyperphosphatasia with impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mabry syndrome @@ -28184,43 +28190,43 @@ MONDO:0016608 megalencephaly skos:closeMatch Orphanet:2477 Megalencephaly semapv MONDO:0016611 lipoblastoma skos:closeMatch Orphanet:247762 Lipoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260965 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053360 -MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051686 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome -MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement +MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406702 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029411 MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:248095 Primary hypertrophic osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010004 +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement +MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0016620 primary hypertrophic osteoarthropathy skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051686 MONDO:0016620 primary hypertrophic osteoarthropathy skos:exactMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 semapv:RegularExpressionReplacement MONDO:0016621 juvenile Huntington disease skos:closeMatch Orphanet:248111 Juvenile Huntington disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751208 -MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931453 MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537238 MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537238 -MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930962 +MONDO:0016622 Melhem-Fahl syndrome skos:closeMatch Orphanet:2482 Melhem-Fahl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931453 MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lower limb malformation-hypospadias syndrome +MONDO:0016639 lower limb deficiency-hypospadias syndrome skos:closeMatch Orphanet:2487 Lower limb malformation-hypospadias syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930962 MONDO:0016641 limb transversal defect-cardiac anomaly syndrome skos:closeMatch Orphanet:2492 FATCO syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931047 MONDO:0016642 meningioma skos:closeMatch NCIT:C3229 Meningeal Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meningeal neoplasm -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027191 MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 -MONDO:0016642 meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma -MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 +MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025286 +MONDO:0016642 meningioma skos:closeMatch Orphanet:2495 Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027191 +MONDO:0016642 meningioma skos:closeMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial meningioma MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma -MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement -MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538065 +MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016643 frontonasal dysplasia skos:closeMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016643 frontonasal dysplasia skos:exactMatch OMIM:136760 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontonasal dysplasia MONDO:0016643 frontonasal dysplasia skos:exactMatch NCIT:C129028 Frontonasal Dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontonasal dysplasia +MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:250 Frontonasal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1876203 +MONDO:0016643 frontonasal dysplasia skos:closeMatch Orphanet:391474 Frontorhiny semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym frontonasal dysplasia type 1 semapv:RegularExpressionReplacement MONDO:0016648 multiple epiphyseal dysplasia skos:closeMatch Orphanet:251 Multiple epiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028197 -MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micro syndrome MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym warburg micro syndrome MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym warburg micro syndrome +MONDO:0016649 Warburg micro syndrome skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micro syndrome MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016654 ring chromosome 5 skos:closeMatch Orphanet:251043 Ring chromosome 5 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 5 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016659 8p23.1 duplication syndrome skos:exactMatch Orphanet:284160 8q21.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label 8q21.11 microdeletion syndrome @@ -28237,14 +28243,14 @@ MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet MONDO:0016670 sickle cell-hemoglobin d disease syndrome skos:closeMatch Orphanet:251370 Sickle cell-hemoglobin D disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272084 MONDO:0016671 sickle cell-hemoglobin E disease syndrome skos:closeMatch Orphanet:251375 Sickle cell-hemoglobin E disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272085 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 +MONDO:0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:187370 +MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch Orphanet:251515 Distal arthrogryposis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861238 MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tendo calcaneus, short MONDO:0016675 distal arthrogryposis type 10 skos:closeMatch OMIM:187370 arthrogryposis, distal, iia 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital plantar contractures MONDO:0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome skos:closeMatch Orphanet:251523 Hyperzincemia and hypercalprotectinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1860229 @@ -28255,60 +28261,60 @@ MONDO:0016681 gliosarcoma skos:closeMatch Orphanet:251576 Gliosarcoma semapv:Lex MONDO:0016682 giant cell glioblastoma skos:closeMatch Orphanet:251579 Giant cell glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334588 MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066254 MONDO:0016683 gliomatosis cerebri skos:closeMatch Orphanet:251582 Gliomatosis cerebri semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334576 -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002224 -MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334579 +MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060971 +MONDO:0016684 anaplastic astrocytoma skos:closeMatch Orphanet:251589 Anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002224 MONDO:0016685 low-grade astrocytoma skos:closeMatch Orphanet:251592 Low-grade astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065869 MONDO:0016686 diffuse astrocytoma skos:closeMatch Orphanet:251595 Diffuse astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280785 MONDO:0016687 protoplasmic astrocytoma skos:closeMatch Orphanet:251598 Protoplasmic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334580 -MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065889 MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334582 +MONDO:0016688 fibrillary astrocytoma skos:closeMatch Orphanet:251601 Fibrillary astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065889 MONDO:0016689 gemistocytic astrocytoma skos:closeMatch Orphanet:251604 Gemistocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334581 MONDO:0016690 pleomorphic xanthoastrocytoma skos:closeMatch Orphanet:251607 Pleomorphic xanthoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334586 MONDO:0016691 pilocytic astrocytoma skos:closeMatch Orphanet:251612 Pilocytic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334583 MONDO:0016692 pilomyxoid astrocytoma skos:closeMatch Orphanet:251615 Pilomyxoid astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1519086 MONDO:0016693 subependymal giant cell astrocytoma skos:closeMatch Orphanet:251618 Subependymal giant cell astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205768 -MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglioma MONDO:0016695 oligodendroglioma skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030286 +MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oligodendroglioma MONDO:0016695 oligodendroglioma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oligodendroglioma MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334590 MONDO:0016696 anaplastic oligodendroglioma skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026659 -MONDO:0016698 ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymoma -MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014967 +MONDO:0016698 ependymoma skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ependymoma +MONDO:0016698 ependymoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ependymoma +MONDO:0016698 ependymoma skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0016699 myxopapillary ependymoma skos:closeMatch Orphanet:251643 Myxopapillary ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205769 -MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014968 MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280788 -MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 +MONDO:0016700 anaplastic ependymoma skos:closeMatch Orphanet:251646 Anaplastic ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014968 MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027744 +MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251656 Oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 MONDO:0016702 oligoastrocytoma skos:closeMatch Orphanet:251651 Oligoastrocytic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280793 MONDO:0016703 anaplastic oligoastrocytoma skos:closeMatch Orphanet:251663 Anaplastic oligoastrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431108 MONDO:0016705 angiocentric glioma skos:closeMatch Orphanet:251671 Angiocentric glioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363903 MONDO:0016707 astroblastoma skos:closeMatch Orphanet:251679 Astroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334587 MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch Orphanet:251863 Desmoplastic/nodular medulloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751291 +MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057846 MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cns pnet MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central nervous system primitive neuroectodermal tumor -MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor skos:closeMatch Orphanet:251870 Central nervous system embryonal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057846 -MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014966 MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0700367 +MONDO:0016715 ependymoblastoma skos:closeMatch Orphanet:251880 Ependymoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014966 MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes MONDO:0016717 choroid plexus neoplasm skos:closeMatch Orphanet:251896 Choroid plexus tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085138 -MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus carcinoma MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym choroid plexus carcinoma +MONDO:0016718 choroid plexus carcinoma skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym choroid plexus carcinoma MONDO:0016718 choroid plexus carcinoma skos:closeMatch Orphanet:251899 Choroid plexus carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067478 -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931529 MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 -MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205898 +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome skos:closeMatch Orphanet:2519 Microcephaly-seizures-intellectual disability-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537544 MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050487 -MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917890 +MONDO:0016722 pineoblastoma skos:closeMatch Orphanet:251909 Pineoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205898 MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035059 +MONDO:0016723 pineocytoma skos:closeMatch Orphanet:251912 Pineocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917890 MONDO:0016724 papillary tumor of the pineal region skos:closeMatch Orphanet:251915 Papillary tumor of the pineal region semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2985219 MONDO:0016730 gangliocytoma skos:closeMatch Orphanet:251992 Ganglioneuroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017075 -MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma +MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206716 MONDO:0016733 ganglioglioma skos:closeMatch Orphanet:251949 Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017701 MONDO:0016734 anaplastic ganglioglioma skos:closeMatch Orphanet:251957 Anaplastic ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431112 @@ -28316,32 +28322,32 @@ MONDO:0016735 papillary glioneuronal tumor skos:closeMatch Orphanet:251962 Papil MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061282 MONDO:0016743 tumor of meninges skos:closeMatch Orphanet:252025 Tumor of meninges semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025284 MONDO:0016746 meningeal melanocytoma skos:closeMatch Orphanet:252046 Meningeal melanocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266113 -MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary melanoma of the cns MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym malignant melanoma of meninges -MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018813 +MONDO:0016747 primary melanoma of the central nervous system skos:closeMatch Orphanet:252050 Primary melanoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary melanoma of the cns MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206734 -MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930954 +MONDO:0016748 hemangioblastoma skos:closeMatch Orphanet:252054 Hemangioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018813 MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-cleft palate-abnormal retinal pigmentation syndrome +MONDO:0016750 microcephaly-cleft palate syndrome skos:closeMatch Orphanet:2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930954 MONDO:0016751 malignant perineurioma skos:closeMatch Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266188 -MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027830 MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029267 +MONDO:0016755 neurofibroma skos:closeMatch Orphanet:252183 Neurofibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027830 MONDO:0016757 malignant triton tumor skos:closeMatch Orphanet:252212 Malignant triton tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334616 -MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2932714 MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 +MONDO:0016759 pontocerebellar hypoplasia type 2 skos:closeMatch Orphanet:2524 Pontocerebellar hypoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548070 MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type skos:closeMatch Orphanet:2528 Microcephaly-microcornea syndrome, Seemanova type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537539 -MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sed and semd MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia +MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:94068 Spondyloepiphyseal dysplasia congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062920 MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia +MONDO:0016763 spondylometaphyseal dysplasia skos:exactMatch OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia MONDO:0016769 linear lichen planus skos:closeMatch Orphanet:254379 Linear lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023650 MONDO:0016770 actinic lichen planus skos:closeMatch Orphanet:254395 Actinic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406365 MONDO:0016772 annular lichen planus skos:closeMatch Orphanet:254424 Annular lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406363 -MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056959 MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023647 +MONDO:0016773 atrophic lichen planus skos:closeMatch Orphanet:254449 Atrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056959 MONDO:0016774 lichen planus pigmentosus skos:closeMatch Orphanet:254463 Lichen planus pigmentosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406366 MONDO:0016775 lichen planus pemphigoides skos:closeMatch Orphanet:254478 Lichen planus pemphigoides semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406369 MONDO:0016777 inhalational botulism skos:closeMatch Orphanet:254504 Inhalational botulism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1443900 @@ -28349,58 +28355,58 @@ MONDO:0016785 complete hydatidiform mole skos:closeMatch Orphanet:254688 Complet MONDO:0016786 partial hydatidiform mole skos:closeMatch Orphanet:254693 Partial hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334529 MONDO:0016787 epithelioid trophoblastic tumor skos:closeMatch Orphanet:254698 Epithelioid trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266159 MONDO:0016798 ataxia neuropathy spectrum skos:closeMatch Orphanet:254818 Ataxia neuropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3683791 -MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843852 MONDO:0016809 spinocerebellar ataxia with epilepsy skos:exactMatch OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia with epilepsy -MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851920 +MONDO:0016809 spinocerebellar ataxia with epilepsy skos:closeMatch Orphanet:254881 Spinocerebellar ataxia with epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843852 MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538007 +MONDO:0016812 dopa-responsive dystonia skos:closeMatch Orphanet:255 Dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1851920 MONDO:0016814 maternally-inherited Leigh syndrome skos:closeMatch Orphanet:255210 Mitochondrial DNA-associated Leigh syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna-associated leigh syndrome -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome -MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070612 MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 MONDO:0016817 Meier-Gorlin syndrome skos:closeMatch Orphanet:2554 Ear-patella-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538012 +MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meier-gorlin syndrome +MONDO:0016817 Meier-Gorlin syndrome skos:exactMatch OMIM:224690 meier-gorlin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meier-gorlin syndrome MONDO:0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026654 -MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 +MONDO:0016820 Moyamoya disease skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028047 -MONDO:0016820 Moyamoya disease skos:exactMatch OMIM:252350 moyamoya disease 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym moyamoya disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026654 +MONDO:0016820 Moyamoya disease skos:closeMatch Orphanet:2573 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009072 +MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014952 MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016603 -MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan skos:closeMatch Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014952 -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028427 -MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 +MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028427 MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008271 +MONDO:0016823 mycetoma skos:closeMatch Orphanet:2583 Mycetoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024449 MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma -MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251950 MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 +MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome skos:closeMatch Orphanet:2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537476 MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 MONDO:0016826 methylmalonic aciduria and homocystinuria skos:closeMatch Orphanet:26 Methylmalonic acidemia with homocystinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537359 MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266833 -MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835084 MONDO:0016829 familial visceral myopathy skos:exactMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym megaduodenum and/or megacystis -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410189 +MONDO:0016829 familial visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1835084 +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 -MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020389 +MONDO:0016830 Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410189 MONDO:0016840 trisomy 17p skos:closeMatch Orphanet:261290 Trisomy 17p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795865 MONDO:0016848 juvenile temporal arteritis skos:closeMatch Orphanet:26137 Juvenile temporal arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751547 MONDO:0016853 ring chromosome Y skos:closeMatch Orphanet:261529 Ring chromosome Y syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome y syndrome -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cholestasis with peripheral pulmonary stenosis -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic ductular hypoplasia, syndromatic -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome -MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261619 Alagille syndrome due to a JAG1 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:52 Alagille syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriohepatic dysplasia +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alagille-watson syndrome +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch Orphanet:261600 Alagille syndrome due to 20p12 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118450 +MONDO:0016862 Alagille syndrome due to a JAG1 point mutation skos:closeMatch OMIM:118450 alagille syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic ductular hypoplasia, syndromatic MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch Orphanet:261857 Partial deletion of the short arm of chromosome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795796 MONDO:0016883 partial deletion of the short arm of chromosome 1 skos:closeMatch NCIT:C36501 Loss of Chromosome 1p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 1p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016892 partial deletion of the short arm of chromosome 10 skos:closeMatch Orphanet:261938 Partial deletion of the short arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795836 @@ -28411,181 +28417,181 @@ MONDO:0016907 partial deletion of the long arm of chromosome 8 skos:closeMatch O MONDO:0016909 partial monosomy of the long arm of chromosome 10 skos:closeMatch Orphanet:262083 Partial monosomy of the long arm of chromosome 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795839 MONDO:0016910 partial deletion of the long arm of chromosome 11 skos:closeMatch NCIT:C37312 Loss of Chromosome 11q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 11q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016911 partial deletion of the long arm of chromosome 13 skos:closeMatch NCIT:C36497 Loss of Chromosome 13q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 13q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 8p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 8p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016945 partial duplication of the short arm of chromosome 8 skos:closeMatch Orphanet:264450 Trisomy 8p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duplication type 8p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016952 partial duplication of the long arm of chromosome 1 skos:closeMatch NCIT:C36521 Partial Trisomy 1q semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label partial trisomy type 1q semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0686353 MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049288 +MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0686353 MONDO:0016971 limb-girdle muscular dystrophy skos:closeMatch Orphanet:263 Limb-girdle muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d049288 MONDO:0016975 thymoma type AB skos:closeMatch Orphanet:263324 Thymoma type AB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266092 MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome skos:closeMatch Orphanet:263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disorder syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018923 MONDO:0016982 angiosarcoma skos:closeMatch Orphanet:263413 Angiosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002476 -MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type v MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome type 5 -MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027961 +MONDO:0016983 Bartter syndrome with hypocalcemia skos:exactMatch Orphanet:570371 Bartter syndrome type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bartter syndrome type v MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051713 -MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0016984 nevus of Ota skos:closeMatch Orphanet:263425 Nevus of Ota semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027961 MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:263432 Nevus of Ito semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 +MONDO:0016985 nevus of Ito skos:closeMatch Orphanet:464 Incontinentia pigmenti semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022283 MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomelanosis of ito MONDO:0016985 nevus of Ito skos:closeMatch OMIM:300337 hypomelanosis of ito semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypomelanosis of ito MONDO:0016986 congenital smooth muscle hamartoma skos:closeMatch Orphanet:263435 Congenital smooth muscle hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406819 MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017406 MONDO:0016989 Fuchs heterochromic iridocyclitis skos:closeMatch Orphanet:263479 Fuchs heterochromic iridocyclitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016782 -MONDO:0016990 acquired prothrombin deficiency skos:closeMatch NCIT:C131622 Acquired Factor II Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired factor ii deficiency MONDO:0016990 acquired prothrombin deficiency skos:closeMatch Orphanet:26348 Acquired prothrombin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392610 +MONDO:0016990 acquired prothrombin deficiency skos:closeMatch NCIT:C131622 Acquired Factor II Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired factor ii deficiency MONDO:0016993 generalized peeling skin syndrome type C skos:closeMatch Orphanet:263558 Peeling skin syndrome type C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peeling skin syndrome type c -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taybi-linder syndrome MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brachymelic primordial dwarfism -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low-birth-weight dwarfism with skeletal dysplasia -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child -MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cephaloskeletal dysplasia +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:closeMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mopd type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0016994 microcephalic osteodysplastic primordial dwarfism types I and III skos:exactMatch OMIM:210710 microcephalic osteodysplastic primordial dwarfism, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym taybi-linder syndrome MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch OMIM:308050 congenital hemidysplasia with ichthyosiform erythroderma and limb defects semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym child syndrome +MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch Orphanet:139 CHILD syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child syndrome +MONDO:0017014 interstitial lung disease specific to childhood skos:exactMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label child MONDO:0017015 primary interstitial lung disease specific to childhood skos:closeMatch NCIT:C16423 Child semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label child -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049808 -MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039743 -MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thanatophoric dwarfism MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thanatophoric dysplasia +MONDO:0017042 thanatophoric dysplasia skos:exactMatch OMIM:187600 thanatophoric dysplasia, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym thanatophoric dwarfism +MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039743 +MONDO:0017042 thanatophoric dysplasia skos:closeMatch Orphanet:2655 Thanatophoric dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049808 MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332965 MONDO:0017043 congenital mesoblastic nephroma skos:closeMatch Orphanet:2665 Congenital mesoblastic nephroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070665 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011553 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037138 MONDO:0017048 pseudomyxoma peritonei skos:closeMatch Orphanet:26790 Pseudomyxoma peritonei semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033822 -MONDO:0017069 spina bifida cystica skos:closeMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268369 Spina bifida aperta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida aperta -MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spina bifida cystica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071011 MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:93969 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele -MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124517 Cranial Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele -MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele +MONDO:0017069 spina bifida cystica skos:closeMatch Orphanet:268744 Spina bifida cystica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071011 +MONDO:0017069 spina bifida cystica skos:closeMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myelomeningocele MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009694 +MONDO:0017079 meningoencephalocele skos:closeMatch Orphanet:268820 Cranial meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele +MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124517 Cranial Meningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cranial meningocele MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124557 Encephalomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalomeningocele MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:closeMatch Orphanet:2697 Arthrogryposis-renal dysfunction-cholestasis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535382 MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arc syndrome MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 -MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029502 MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009625 MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028271 +MONDO:0017124 noma skos:closeMatch Orphanet:2700 Noma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029502 MONDO:0017127 inherited soft tissue tumor skos:closeMatch Orphanet:271832 Genetic soft tissue tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic soft tissue tumor MONDO:0017128 inherited digestive tract tumor skos:closeMatch Orphanet:271835 Genetic digestive tract tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic digestive tract tumor MONDO:0017129 inherited cardiac tumor skos:closeMatch Orphanet:271841 Genetic cardiac tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic cardiac tumor -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029001 -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039202 -MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009855 -MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz gbbb syndrome -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz syndrome +MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030314 +MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039202 +MONDO:0017137 onchocerciasis skos:closeMatch Orphanet:2737 Onchocerciasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029001 MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertelorism with esophageal abnormality and hypospadias +MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz syndrome +MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome +MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch OMIM:300000 opitz gbbb syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz gbbb syndrome +MONDO:0017138 Opitz G/BBB syndrome skos:closeMatch Orphanet:2745 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opitz bbbg syndrome MONDO:0017140 L1 syndrome skos:exactMatch OMIM:303350 masa syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym crash syndrome -MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065151 MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 +MONDO:0017147 idiopathic pulmonary arterial hypertension skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065151 MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension skos:closeMatch Orphanet:275786 Drug- or toxin-induced pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0340544 MONDO:0017162 imperforate oropharynx-costo vetebral anomalies syndrome skos:closeMatch Orphanet:2759 Imperforate oropharynx-costovertebral anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imperforate oropharynx-costovertebral anomalies syndrome MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:276161 Multiple endocrine neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061299 MONDO:0017169 multiple endocrine neoplasia skos:closeMatch Orphanet:100094 Multiple polyglandular tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027662 +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans and short stature -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial osteochondritis dissecans -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans -MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans, short stature, and early-onset osteoarthritis MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031231 MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029421 -MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:2764 Osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010008 -MONDO:0017182 familial hyperinsulinism skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nesidioblastosis +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans, short stature, and early-onset osteoarthritis +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondritis dissecans and short stature +MONDO:0017178 osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label familial osteochondritis dissecans +MONDO:0017178 osteochondritis dissecans skos:closeMatch OMIM:165800 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0017182 familial hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nesidioblastosis +MONDO:0017182 familial hyperinsulinism skos:exactMatch NCIT:C4375 Nesidioblastosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nesidioblastosis MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072255 MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 MONDO:0017194 Blount disease skos:closeMatch Orphanet:2768 Blount disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536237 -MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432253 MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063718 +MONDO:0017195 Bruck syndrome skos:closeMatch Orphanet:2771 Bruck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432253 MONDO:0017195 Bruck syndrome skos:exactMatch OMIM:609220 bruck syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym osteogenesis imperfecta with congenital joint contractures MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome skos:closeMatch Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931096 -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and related disorders -MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031280 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010022 +MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031280 +MONDO:0017198 osteopetrosis skos:closeMatch Orphanet:2781 Osteopetrosis and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteopetrosis and related disorders MONDO:0017200 polycystic ovaries-urethral sphincter dysfunction syndrome skos:closeMatch Orphanet:2795 Fowler urethral sphincter dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931462 -MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059593 MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527306 +MONDO:0017201 Spasmus nutans skos:closeMatch Orphanet:279882 Spasmus nutans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059593 MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000730 MONDO:0017202 acute endophthalmitis skos:closeMatch Orphanet:279888 Acute endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154773 -MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154774 MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008864 -MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006666 +MONDO:0017203 chronic endophthalmitis skos:closeMatch Orphanet:279891 Chronic endophthalmitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154774 MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051714 +MONDO:0017215 calciphylaxis skos:closeMatch Orphanet:280062 Calciphylaxis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006666 MONDO:0017236 rapidly progressive glomerulonephritis skos:closeMatch NCIT:C35444 Crescentic Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label crescentic glomerulonephritis MONDO:0017241 AP4-related intellectual disability and spastic paraplegia skos:closeMatch Orphanet:280763 Severe intellectual disability and progressive spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label severe intellectual disability and progressive spastic paraplegia MONDO:0017242 cutaneous collagenous vasculopathy skos:closeMatch Orphanet:280779 Cutaneous collagenous vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4305323 MONDO:0017255 panuveitis skos:closeMatch Orphanet:280898 Panuveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033687 MONDO:0017256 idiopathic anterior uveitis skos:closeMatch Orphanet:280914 Idiopathic anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339315 -MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label self-improving collodion baby MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855789 -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 -MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0017267 self-healing collodion baby skos:closeMatch Orphanet:281122 Self-improving collodion baby semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label self-improving collodion baby MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 +MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:461 Recessive X-linked ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 +MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079588 +MONDO:0017269 X-linked ichthyosis syndrome skos:closeMatch Orphanet:281210 X-linked ichthyosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048063 MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome skos:closeMatch Orphanet:2819 Spastic paraplegia-facial-cutaneous lesions syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931617 -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338451 -MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068968 MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 -MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallidopontonigral degeneration +MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338451 +MONDO:0017276 frontotemporal dementia skos:closeMatch Orphanet:282 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057180 +MONDO:0017276 frontotemporal dementia skos:narrowMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym frontotemporal dementia semapv:RegularExpressionReplacement MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frontotemporal dementia MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multiple system tauopathy with presenile dementia -MONDO:0017276 frontotemporal dementia skos:narrowMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym frontotemporal dementia semapv:RegularExpressionReplacement +MONDO:0017276 frontotemporal dementia skos:exactMatch OMIM:600274 frontotemporal dementia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pallidopontonigral degeneration MONDO:0017278 autoimmune polyendocrinopathy skos:closeMatch Orphanet:282196 Autoimmune polyendocrinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085409 MONDO:0017280 demodicidosis skos:closeMatch Orphanet:283 Demodicidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854478 +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948954 +MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053042 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym echinococcus multilocularis infection -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053042 -MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0948954 MONDO:0017282 alveolar echinococcosis skos:closeMatch Orphanet:284 Alveolar echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536591 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868854 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067287 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017285 penoscrotal transposition skos:closeMatch Orphanet:2842 Penoscrotal transposition semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536650 MONDO:0017286 tempi syndrome skos:closeMatch Orphanet:284227 TEMPI syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854394 -MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203653 MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071569 +MONDO:0017287 IgG4-related disease skos:closeMatch Orphanet:284264 IgG4-related disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203653 MONDO:0017291 reversible cerebral vasoconstriction syndrome skos:closeMatch Orphanet:284388 Reversible cerebral vasoconstriction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3544214 MONDO:0017297 chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids skos:closeMatch Orphanet:284448 CLIPPERS semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3854437 MONDO:0017298 acute zonal occult outer retinopathy skos:closeMatch Orphanet:284454 Acute zonal occult outer retinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730298 -MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065276 MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement MONDO:0017304 ocular albinism skos:narrowMatch ICD10CM:E70.318 Other ocular albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym ocular albinism semapv:RegularExpressionReplacement +MONDO:0017304 ocular albinism skos:closeMatch Orphanet:284804 Ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065276 MONDO:0017306 disorder of phenylalanine metabolism skos:closeMatch Orphanet:284814 Disorder of phenylalanine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268461 MONDO:0017312 Perrault syndrome skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0685838 +MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym veds MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular eds -MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch Orphanet:286 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym veds MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:exactMatch OMIM:130050 ehlers-danlos syndrome, vascular iia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym eds type 4 semapv:RegularExpressionReplacement MONDO:0017315 short stature-webbed neck-heart disease syndrome skos:closeMatch Orphanet:2865 Short stature-webbed neck-heart disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930950 +MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931658 MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537893 -MONDO:0017317 phakomatosis pigmentokeratotica skos:closeMatch Orphanet:2874 Phakomatosis pigmentokeratotica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931658 +MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013902 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014490 +MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017319 hereditary elliptocytosis skos:exactMatch Orphanet:98868 Southeast Asian ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary ovalocytosis MONDO:0017319 hereditary elliptocytosis skos:exactMatch NCIT:C36293 Ovalocytosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovalocytosis -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013902 -MONDO:0017319 hereditary elliptocytosis skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004612 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536654 MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency skos:closeMatch Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268194 MONDO:0017321 pili torti-onychodysplasia syndrome skos:closeMatch Orphanet:2890 Pili torti-onychodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931483 -MONDO:0017339 exfoliative ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis exfoliativa MONDO:0017339 exfoliative ichthyosis skos:closeMatch Orphanet:289586 Exfoliative ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838440 -MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068349 +MONDO:0017339 exfoliative ichthyosis skos:exactMatch OMIM:146800 ichthyosis bullosa of siemens semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis exfoliativa MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363744 +MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder skos:closeMatch Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068349 MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065039 MONDO:0017347 plasmablastic lymphoma skos:closeMatch Orphanet:289666 Plasmablastic lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3472614 MONDO:0017349 myopericytoma skos:closeMatch NCIT:C3087 Hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemangiopericytoma @@ -28595,42 +28601,42 @@ MONDO:0017351 inborn disorder of lysine and hydroxylysine metabolism skos:closeM MONDO:0017352 disorder of glutamine metabolism skos:closeMatch Orphanet:289841 Disorder of glutamine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342669 MONDO:0017356 inborn disorder of ornithine metabolism skos:closeMatch Orphanet:289869 Disorder of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342690 MONDO:0017359 3-methylglutaconic aciduria skos:closeMatch Orphanet:289902 3-methylglutaconic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696376 -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010618 -MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035921 +MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010618 +MONDO:0017361 congenital rubella syndrome skos:closeMatch Orphanet:290 Congenital rubella syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012410 MONDO:0017362 neuralgic amyotrophy skos:closeMatch Orphanet:2901 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063020 -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053869 -MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016878 -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 -MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032371 +MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053869 +MONDO:0017364 POEMS syndrome skos:closeMatch Orphanet:2905 POEMS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085404 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036012 MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 +MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011051 +MONDO:0017373 poliomyelitis skos:closeMatch Orphanet:2912 Poliomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032371 +MONDO:0017376 reactive arthritis skos:exactMatch NCIT:C34975 Reiter Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiter syndrome +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085435 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038294 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016918 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035012 MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003267 -MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085435 -MONDO:0017376 reactive arthritis skos:exactMatch NCIT:C34975 Reiter Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiter syndrome +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035012 +MONDO:0017376 reactive arthritis skos:closeMatch Orphanet:29207 Reactive arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038294 MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome skos:closeMatch Orphanet:2921 Preaxial polydactyly-colobomata-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931655 -MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0345893 +MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:2929 Juvenile polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 MONDO:0017380 juvenile polyposis syndrome skos:closeMatch Orphanet:329971 Generalized juvenile polyposis/juvenile polyposis coli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174900 -MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877055 MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048799 +MONDO:0017384 acute generalized exanthematous pustulosis skos:closeMatch Orphanet:293173 Acute generalized exanthematous pustulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877055 MONDO:0017386 pleomorphic rhabdomyosarcoma skos:closeMatch Orphanet:293199 Pleomorphic rhabdomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334480 MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015099 MONDO:0017387 epithelioid sarcoma skos:closeMatch Orphanet:293202 Epithelioid sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0205944 -MONDO:0017395 fixed pigmented erythema skos:exactMatch NCIT:C111986 Fixed Drug Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fixed drug eruption MONDO:0017395 fixed pigmented erythema skos:closeMatch Orphanet:293812 Fixed drug eruption semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048796 +MONDO:0017395 fixed pigmented erythema skos:exactMatch NCIT:C111986 Fixed Drug Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fixed drug eruption MONDO:0017398 3MC syndrome skos:exactMatch OMIM:257920 3mc syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopalatoskeletal syndrome -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748662 MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615710 +MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch OMIM:615710 mitchell-riley syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia -MONDO:0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome skos:closeMatch Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748662 MONDO:0017409 fetal cytomegalovirus syndrome skos:closeMatch Orphanet:294 Fetal cytomegalovirus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349499 MONDO:0017410 porencephaly skos:closeMatch Orphanet:2940 Porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036172 MONDO:0017415 multiple pterygium syndrome skos:closeMatch OMIM:265000 multiple pterygium syndrome, escobar variant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pterygium syndrome @@ -28640,55 +28646,55 @@ MONDO:0017417 renal-hepatic-pancreatic dysplasia skos:closeMatch Orphanet:294415 MONDO:0017419 non-syndromic amelia skos:closeMatch Orphanet:294925 Amelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001926 MONDO:0017427 congenital deformities of limbs skos:closeMatch Orphanet:294944 Congenital deformities of limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024500 MONDO:0017430 non-syndromic congenital joint dislocations skos:closeMatch Orphanet:294951 Congenital joint dislocations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital joint dislocations -MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome +MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome MONDO:0017435 popliteal pterygium syndrome skos:closeMatch Orphanet:294963 Popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265259 +MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label popliteal pterygium syndrome MONDO:0017435 popliteal pterygium syndrome skos:exactMatch OMIM:119500 popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym popliteal pterygium syndrome -MONDO:0017435 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 Autosomal dominant popliteal pterygium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym facio-genito-popliteal syndrome MONDO:0017456 central polydactyly of fingers skos:closeMatch Orphanet:295004 Central polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central polydactyly MONDO:0017462 congenital pseudoarthrosis of the tibia skos:closeMatch Orphanet:295018 Congenital pseudoarthrosis of the tibia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265661 MONDO:0017469 congenital elbow dislocation skos:closeMatch Orphanet:295032 Isolated congenital radial head dislocation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated congenital radial head dislocation MONDO:0017470 congenital knee dislocation skos:closeMatch Orphanet:295034 Congenital knee dislocation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010520 MONDO:0017568 Prata-Liberal-Goncalves syndrome skos:closeMatch Orphanet:2956 Acrodysplasia scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931761 MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 -MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, de barsy type MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535990 +MONDO:0017569 de Barsy syndrome skos:closeMatch Orphanet:2962 De Barsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, de barsy type MONDO:0017570 leukocyte adhesion deficiency skos:exactMatch OMIM:116920 leukocyte adhesion deficiency, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukocyte adhesion deficiency MONDO:0017571 Proteus-like syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proteus-like syndrome -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043848 -MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10WHO:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement -MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014061 MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 +MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004675 MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10WHO:A84.8 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0017572 tick-borne encephalitis skos:narrowMatch ICD10CM:A84.89 Other tick-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym tick-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0017572 tick-borne encephalitis skos:closeMatch Orphanet:297 Tick-borne encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043848 MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myoneurogastrointestinal encephalopathy syndrome MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy skos:closeMatch Orphanet:1876 Oculogastrointestinal muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculogastrointestinal muscular dystrophy +MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058489 -MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:2982 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 MONDO:0017577 spontaneous periodic hypothermia skos:closeMatch Orphanet:29822 Spontaneous periodic hypothermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931542 MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome skos:closeMatch OMIM:243310 baraitser-winter syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fryns-aftimos syndrome MONDO:0017582 pituitary adenocarcinoma skos:closeMatch Orphanet:300385 Pituitary carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346300 MONDO:0017588 nail tumor skos:closeMatch Orphanet:300515 Rare nail tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare nail tumor -MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262401 MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048853 +MONDO:0017590 carcinoma of the ampulla of vater skos:closeMatch Orphanet:300557 Carcinoma of the ampulla of Vater semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0262401 MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041932 MONDO:0017592 staphylococcal toxemia skos:closeMatch Orphanet:300579 Staphylococcal toxemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854511 MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch Orphanet:300857 T-cell/histiocyte rich large B cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1321547 -MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 +MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054446 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0017598 primary cutaneous anaplastic large cell lymphoma skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301362 -MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019054 MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349633 +MONDO:0017600 hairy cell leukemia variant skos:closeMatch Orphanet:300878 Hairy cell leukemia variant semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019054 MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch Orphanet:300903 ALK-negative anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1332078 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059387 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1867774 -MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068896 MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054842 +MONDO:0017607 caudal regression sequence skos:closeMatch Orphanet:3027 Caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068896 MONDO:0017607 caudal regression sequence skos:exactMatch OMIM:176450 currarino syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sacral agenesis syndrome MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primitive renal tubule syndrome MONDO:0017609 renal tubular dysgenesis skos:exactMatch OMIM:267430 renal tubular dysgenesis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label renal tubular dysgenesis @@ -28701,8 +28707,8 @@ MONDO:0017612 junctional epidermolysis bullosa skos:closeMatch Orphanet:305 Junc MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome skos:closeMatch Orphanet:3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796264 MONDO:0017615 benign familial infantile epilepsy skos:exactMatch NCIT:C183308 Benign Familial Infantile Seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial infantile seizures MONDO:0017617 acquired adult-onset immunodeficiency skos:closeMatch Orphanet:306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies -MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pten hamartoma tumor syndrome MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pten hamartoma tumor syndrome +MONDO:0017623 PTEN hamartoma tumor syndrome skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pten hamartoma tumor syndrome MONDO:0017623 PTEN hamartoma tumor syndrome skos:closeMatch Orphanet:306498 PTEN hamartoma tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1959582 MONDO:0017628 myospherulosis skos:closeMatch Orphanet:306553 Myospherulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027123 MONDO:0017634 non-infectious anterior uveitis skos:closeMatch Orphanet:306648 Non-infectious anterior uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339317 @@ -28726,25 +28732,25 @@ MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficien MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017922 MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form skos:closeMatch Orphanet:308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053250 MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form skos:closeMatch Orphanet:308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856305 +MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar anomaly -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch OMIM:106700 total anomalous pulmonary venous return 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anomalous pulmonary venous return -MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C85056 Scimitar Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch Orphanet:185 Scimitar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label scimitar syndrome -MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072221 -MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency +MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch NCIT:C98585 Total Anomalous Pulmonary Venous Return semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label total anomalous pulmonary venous return MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 +MONDO:0017708 mevalonate kinase deficiency skos:exactMatch NCIT:C84890 Mevalonate Kinase Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mevalonate kinase deficiency +MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:309025 Mevalonate kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072221 MONDO:0017708 mevalonate kinase deficiency skos:closeMatch Orphanet:29 Mevalonic aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054078 -MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268241 MONDO:0017711 pancreatic colipase deficiency skos:exactMatch OMIM:614338 pancreatic lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pancreatic colipase deficiency +MONDO:0017711 pancreatic colipase deficiency skos:closeMatch Orphanet:309108 Pancreatic colipase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268241 MONDO:0017714 acyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:309120 Acyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268635 MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency skos:closeMatch Orphanet:71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231530 MONDO:0017719 gangliosidosis skos:closeMatch Orphanet:309144 Gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017083 -MONDO:0017719 gangliosidosis skos:narrowMatch ICD10CM:E75.19 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement MONDO:0017719 gangliosidosis skos:narrowMatch ICD10WHO:E75.1 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement -MONDO:0017720 GM2 gangliosidosis skos:narrowMatch ICD10CM:E75.09 Other GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gm2 gangliosidosis semapv:RegularExpressionReplacement +MONDO:0017719 gangliosidosis skos:narrowMatch ICD10CM:E75.19 Other gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gangliosidosis semapv:RegularExpressionReplacement MONDO:0017720 GM2 gangliosidosis skos:closeMatch Orphanet:309152 GM2 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268274 +MONDO:0017720 GM2 gangliosidosis skos:narrowMatch ICD10CM:E75.09 Other GM2 gangliosidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym gm2 gangliosidosis semapv:RegularExpressionReplacement MONDO:0017726 Tay-Sachs disease, B variant, adult form skos:closeMatch Orphanet:309192 Tay-Sachs disease, B variant, adult form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848914 MONDO:0017734 sialidosis skos:closeMatch Orphanet:309294 Sialidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058800 MONDO:0017735 congenital aortic valve stenosis skos:closeMatch Orphanet:3093 Congenital aortic valve stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010371 @@ -28752,10 +28758,10 @@ MONDO:0017736 disorder of sialic acid metabolism skos:closeMatch Orphanet:309319 MONDO:0017746 atypical Rett syndrome skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748910 MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation skos:closeMatch Orphanet:309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0017759 disorder of catecholamine synthesis skos:closeMatch Orphanet:309830 Disorder of catecholamine synthesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342685 -MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012714 MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061091 -MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of zinc metabolism and transport +MONDO:0017762 disorder of copper metabolism skos:closeMatch Orphanet:309839 Disorder of copper metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0012714 MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048260 +MONDO:0017764 disorder of zinc metabolism skos:closeMatch Orphanet:309845 Disorder of zinc metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of zinc metabolism and transport MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039054 MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012213 MONDO:0017767 rheumatic fever skos:closeMatch Orphanet:3099 Rheumatic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035436 @@ -28764,91 +28770,92 @@ MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semap MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020195 MONDO:0017768 reflex epilepsy skos:closeMatch Orphanet:310 Reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270857 MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mayer-rokitansky-kuster-hauser syndrome -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian aplasia/dysgenesis -MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065148 +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mayer-rokitansky-kuster-hauser syndrome MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mayer-rokitansky-küster-hauser syndrome +MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome skos:closeMatch Orphanet:3109 Mayer-Rokitansky-Küster-Hauser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065148 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 +MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052456 MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473527 -MONDO:0017773 hypoalphalipoproteinemia skos:closeMatch Orphanet:31153 Hypoalphalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065156 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006995 MONDO:0017774 hypobetalipoproteinemia skos:closeMatch Orphanet:31154 Hypobetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020597 -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 +MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069748 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025229 MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 -MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069748 -MONDO:0017775 melioidosis skos:narrowMatch ICD10WHO:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement +MONDO:0017775 melioidosis skos:closeMatch Orphanet:31202 Melioidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008554 MONDO:0017775 melioidosis skos:narrowMatch ICD10CM:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement +MONDO:0017775 melioidosis skos:narrowMatch ICD10WHO:A24.3 Other melioidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym melioidosis semapv:RegularExpressionReplacement MONDO:0017776 nocardiosis skos:closeMatch Orphanet:31204 Nocardiosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029444 MONDO:0017778 lamellar ichthyosis skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023686 MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach skos:closeMatch Orphanet:314022 Gastric adenocarcinoma and proximal polyposis of the stomach semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619182 -MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C7644 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 +MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002448 MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C4310 Adenomatoid Odontogenic Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adenomatoid odontogenic tumor +MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066796 +MONDO:0017795 ameloblastoma skos:closeMatch NCIT:C7644 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:55881 Adamantinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adamantinoma -MONDO:0017795 ameloblastoma skos:closeMatch Orphanet:314419 Ameloblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002448 -MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025184 MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027139 +MONDO:0017799 Meigs syndrome skos:closeMatch Orphanet:314451 Meigs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025184 MONDO:0017815 acquired porencephaly skos:closeMatch Orphanet:314697 Acquired porencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151860 MONDO:0017822 mixed functioning pituitary adenoma skos:closeMatch Orphanet:314759 Mixed functioning pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346305 -MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751690 MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029236 +MONDO:0017827 malignant peripheral nerve sheath tumor skos:closeMatch Orphanet:3148 Malignant peripheral nerve sheath tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751690 MONDO:0017832 mycobacterium xenopi infection skos:closeMatch NCIT:C150881 Mycobacterium xenopi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mycobacterium xenopi MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:679 Malignant atrophic papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221011 MONDO:0017836 erythrokeratoderma en cocardes skos:closeMatch Orphanet:315 Erythrokeratoderma ''en cocardes'' semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratoderma ''en cocardes'' MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 -MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265301 MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537525 MONDO:0017838 sclerosteosis skos:exactMatch OMIM:269500 sclerosteosis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with syndactyly +MONDO:0017838 sclerosteosis skos:closeMatch Orphanet:3152 Sclerosteosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265301 MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal-retinal syndrome MONDO:0017842 Senior-Loken syndrome skos:exactMatch OMIM:266900 senior-loken syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym senior-loken syndrome MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 MONDO:0017842 Senior-Loken syndrome skos:closeMatch Orphanet:3156 Senior-Loken syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537580 +MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036920 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040493 MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 -MONDO:0017844 Sezary syndrome skos:closeMatch Orphanet:3162 Sézary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012751 MONDO:0017845 spastic ataxia skos:closeMatch Orphanet:316226 Spastic ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849156 -MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931473 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 +MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931473 MONDO:0017849 Siegler-Brewer-Carey syndrome skos:closeMatch Orphanet:3167 Siegler-Brewer-Carey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537335 MONDO:0017850 sirenomelia skos:exactMatch OMIM:600145 sacral defect with anterior meningocele semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sirenomelia MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037205 MONDO:0017850 sirenomelia skos:closeMatch Orphanet:3169 Sirenomelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049216 +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrokeratodermia variabilis +MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratodermia variabilis MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier-gottron disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis extremitatum hereditaria progrediens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049048 MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progressive symmetric erythrokeratodermia, gottron type +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label progressive symmetric erythrokeratodermia MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia progressiva symmetrica -MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049048 +MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym darier-gottron disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017851 erythrokeratodermia variabilis skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265961 -MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym erythrokeratodermia variabilis -MONDO:0017851 erythrokeratodermia variabilis skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym erythrokeratodermia variabilis -MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001890 +MONDO:0017853 hypersensitivity pneumonitis skos:closeMatch Orphanet:31740 Hypersensitivity pneumonitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000542 +MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroleukemia MONDO:0017858 acute erythroid leukemia skos:closeMatch Orphanet:318 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023440 +MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroleukemia MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome -MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia MONDO:0017864 congenital pulmonary veins atresia or stenosis skos:closeMatch NCIT:C99036 Pulmonary Vein Stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary vein stenosis -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label valvular pulmonary stenosis +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037451 +MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017865 congenital pulmonary valve stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0017866 subpulmonary stenosis skos:closeMatch Orphanet:3190 Subpulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165028 MONDO:0017874 Argentine hemorrhagic fever skos:closeMatch Orphanet:319223 Argentine hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019097 @@ -28856,44 +28863,44 @@ MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivia MONDO:0017875 Bolivian hemorrhagic fever skos:closeMatch Orphanet:319229 Bolivian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10005932 MONDO:0017876 Venezuelan hemorrhagic fever skos:closeMatch Orphanet:319234 Venezuelan hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042470 MONDO:0017877 Brazilian hemorrhagic fever skos:closeMatch Orphanet:319239 Brazilian hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343633 +MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch NCIT:C14213 Hantavirus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hantavirus MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019143 MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch Orphanet:319247 Hantavirus pulmonary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0243025 -MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch NCIT:C14213 Hantavirus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hantavirus MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039143 MONDO:0017880 Rift valley fever skos:closeMatch Orphanet:319251 Rift valley fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035613 -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey fever MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022810 -MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023505 +MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey fever MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0017881 Kyasanur forest disease skos:closeMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023505 MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019103 MONDO:0017882 Omsk hemorrhagic fever skos:closeMatch Orphanet:319266 Omsk hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030310 -MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement -MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma -MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306837 MONDO:0017884 papillary renal cell carcinoma skos:closeMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0017884 papillary renal cell carcinoma skos:closeMatch Orphanet:319298 Papillary renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1306837 +MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement +MONDO:0017884 papillary renal cell carcinoma skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal cell carcinoma, papillary, type 1 semapv:RegularExpressionReplacement +MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma MONDO:0017885 chromophobe renal cell carcinoma skos:closeMatch Orphanet:319303 Chromophobe renal cell carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266042 MONDO:0017904 steroid dehydrogenase deficiency-dental anomalies syndrome skos:closeMatch Orphanet:3196 Steroid dehydrogenase deficiency-dental anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931508 MONDO:0017906 amyloidosis cutis dyschromia skos:exactMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyloidosis cutis dyschromica -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 -MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutathione synthetase deficiency +MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyroglutamic aciduria MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 5-oxoprolinuria -MONDO:0017909 inherited glutathione synthetase deficiency skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glutathione synthetase deficiency +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536835 +MONDO:0017909 inherited glutathione synthetase deficiency skos:closeMatch Orphanet:32 Glutathione synthetase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398746 MONDO:0017910 dehydrated hereditary stomatocytosis skos:exactMatch OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dehydrated hereditary stomatocytosis MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome skos:closeMatch Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931292 -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850321 -MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 +MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:322 Exstrophy-epispadias complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bladder exstrophy-epispadias-cloacal extrophy complex -MONDO:0017919 exstrophy-epispadias complex skos:exactMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oeis complex +MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258040 +MONDO:0017919 exstrophy-epispadias complex skos:closeMatch Orphanet:93929 Cloacal exstrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850321 MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome skos:closeMatch Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931654 +MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym symphalangism-brachydactyly syndrome MONDO:0017923 multiple synostoses syndrome skos:exactMatch OMIM:186500 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wl syndrome -MONDO:0017923 multiple synostoses syndrome skos:closeMatch Orphanet:3237 Multiple synostoses syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175700 MONDO:0017939 minicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minicore myopathy MONDO:0017941 chikungunya skos:closeMatch Orphanet:324625 Chikungunya semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008055 MONDO:0017943 autoerythrocyte sensitization syndrome skos:closeMatch Orphanet:324636 Autoerythrocyte sensitization syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0301928 @@ -28902,29 +28909,29 @@ MONDO:0017947 ABeta amyloidosis, Italian type skos:exactMatch OMIM:605714 cerebr MONDO:0017948 ABetaA21G amyloidosis skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, flemish variant MONDO:0017949 ABeta amyloidosis, Arctic type skos:exactMatch OMIM:605714 cerebral amyloid angiopathy, app-related semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral amyloid angiopathy, app-related, arctic variant MONDO:0017951 trichorhinophalangeal syndrome skos:closeMatch Orphanet:324764 Trichorhinophalangeal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265255 -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328840 -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1328840 MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069521 +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056735 +MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune lymphoproliferative syndrome MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym canale-smith syndrome -MONDO:0017979 autoimmune lymphoproliferative syndrome skos:exactMatch OMIM:601859 autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autoimmune lymphoproliferative syndrome -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042928 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydromyelia MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 -MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042928 MONDO:0017987 syringomyelia skos:closeMatch Orphanet:99856 Primary syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039144 +MONDO:0017987 syringomyelia skos:closeMatch Orphanet:3280 Syringomyelia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013595 MONDO:0017987 syringomyelia skos:closeMatch NCIT:C123638 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia MONDO:0017988 multifocal atrial tachycardia skos:closeMatch Orphanet:3282 Multifocal atrial tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221158 MONDO:0017989 His bundle tachycardia skos:closeMatch Orphanet:3283 His bundle tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039235 MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia skos:closeMatch Orphanet:3286 Catecholaminergic polymorphic ventricular tachycardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1631597 -MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young female arteritis -MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulseless disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 -MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043097 MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039263 +MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulseless disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013625 +MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043097 +MONDO:0017991 Takayasu arteritis skos:closeMatch OMIM:207600 takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym young female arteritis MONDO:0017991 Takayasu arteritis skos:closeMatch Orphanet:3287 Takayasu arteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207600 MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration skos:exactMatch OMIM:612319 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fatty acid hydroxylase-associated neurodegeneration MONDO:0018000 hereditary thrombocytosis with transverse limb defect skos:closeMatch Orphanet:329319 Thrombocythemia with distal limb defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocythemia with distal limb defects @@ -28938,135 +28945,135 @@ MONDO:0018026 tetraploidy syndrome skos:closeMatch Orphanet:3305 Tetraploidy sem MONDO:0018026 tetraploidy syndrome skos:exactMatch NCIT:C28450 Tetraploidy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tetraploidy MONDO:0018027 duplication/inversion 15q11 skos:closeMatch Orphanet:3306 Inverted duplicated chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isodicentric chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018029 congenital factor XIII deficiency skos:closeMatch NCIT:C131633 Factor XIII Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label factor xiii deficiency -MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795832 MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538027 +MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795832 MONDO:0018030 tetrasomy 9p skos:closeMatch Orphanet:3310 Tetrasomy 9p semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538027 MONDO:0018031 granulomatous slack skin disease skos:closeMatch Orphanet:33111 Granulomatous slack skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0376407 MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071249 MONDO:0018034 thalidomide embryopathy skos:closeMatch Orphanet:3312 Thalidomide embryopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432365 -MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536514 -MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751757 +MONDO:0018043 Thomas syndrome skos:closeMatch Orphanet:3316 Thomas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931225 MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hypersomnolence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypersomnolence -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846142 -MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hoyeraal-hreidarsson syndrome +MONDO:0018044 idiopathic hypersomnia skos:closeMatch Orphanet:33208 Idiopathic hypersomnia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751757 MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 +MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:exactMatch OMIM:305000 dyskeratosis congenita, X-linked semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hoyeraal-hreidarsson syndrome MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536068 -MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931365 +MONDO:0018045 Hoyeraal-Hreidarsson syndrome skos:closeMatch Orphanet:3322 Hoyeraal-Hreidarsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1846142 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536900 +MONDO:0018047 familial thrombomodulin anomalies skos:closeMatch Orphanet:3324 Familial thrombomodulin anomalies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931365 MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062506 MONDO:0018048 heparin-induced thrombocytopenia skos:closeMatch Orphanet:3325 Heparin-induced thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272285 -MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tibial aplasia with split-hand/split-foot deformity MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym split-hand/foot malformation with long bone deficiency MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectrodactyly with aplasia of long bones +MONDO:0018050 tibial aplasia-ectrodactyly syndrome skos:closeMatch OMIM:119100 split-hand/foot malformation with long bone deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia of tibia with ectrodactyly MONDO:0018051 Jessner lymphocytic infiltration of the skin skos:closeMatch Orphanet:33314 Jessner lymphocytic infiltration of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580181 MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955934 MONDO:0018053 trichothiodystrophy skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044628 -MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056960 MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023648 +MONDO:0018056 bullous lichen planus skos:closeMatch Orphanet:33408 Bullous lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056960 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1261567 -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 -MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 -MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 +MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:141127 Congenital tracheal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 +MONDO:0018058 tracheal agenesis skos:closeMatch Orphanet:3346 Tracheal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536975 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027249 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025294 MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 +MONDO:0018059 meningococcal meningitis skos:closeMatch Orphanet:33475 Meningococcal meningitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008585 MONDO:0018061 trichodermodysplasia-dental alterations syndrome skos:closeMatch Orphanet:3353 Trichodermodysplasia-dental alterations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931485 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047883 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010201 MONDO:0018063 nodular non-suppurative panniculitis skos:closeMatch Orphanet:33577 Nodular non-suppurative panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030328 -MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy x +MONDO:0018066 trisomy X skos:exactMatch NCIT:C86948 Trisomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy x MONDO:0018066 trisomy X skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221033 -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 -MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0333693 MONDO:0018067 triploidy skos:exactMatch NCIT:C8324 Triploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label triploidy MONDO:0018067 triploidy skos:closeMatch NCIT:C85204 Triploidy Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triploidy syndrome -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152095 -MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044686 -MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 +MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0333693 +MONDO:0018067 triploidy skos:closeMatch Orphanet:3376 Triploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057885 MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018068 trisomy 13 skos:exactMatch NCIT:C36529 Trisomy 13 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 13 semapv:RegularExpressionReplacement -MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 +MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044686 +MONDO:0018068 trisomy 13 skos:closeMatch Orphanet:3378 Trisomy 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152095 MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement +MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018071 trisomy 18 skos:exactMatch OMIM:300484 orofaciodigital syndrome 8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym edwards syndrome +MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053884 +MONDO:0018071 trisomy 18 skos:closeMatch Orphanet:3380 Trisomy 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152096 MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C101362 Complete Trisomy 18 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete trisomy type 18 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018071 trisomy 18 skos:exactMatch NCIT:C36626 Trisomy 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label trisomy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent truncus arteriosus +MONDO:0018072 persistent truncus arteriosus skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym persistent truncus arteriosus MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0018075 neural tube defect skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044755 -MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041296 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014376 -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 +MONDO:0018076 tuberculosis skos:closeMatch Orphanet:3389 Tuberculosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041296 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041351 -MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045146 -MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266101 +MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 +MONDO:0018077 tularemia skos:closeMatch Orphanet:3392 Tularemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014406 MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 +MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1266101 MONDO:0018079 thymic epithelial neoplasm skos:closeMatch Orphanet:3398 Thymic epithelial neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536905 +MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930957 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535630 -MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930957 MONDO:0018081 hemorrhagic fever-renal syndrome skos:closeMatch Orphanet:340 Hemorrhagic fever-renal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023484 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048951 -MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 MONDO:0018084 Uhl anomaly skos:exactMatch OMIM:107970 arrhythmogenic right ventricular dysplasia, familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uhl anomaly +MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 +MONDO:0018084 Uhl anomaly skos:closeMatch Orphanet:3403 Uhl anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536932 MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 -MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931371 MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536938 +MONDO:0018085 umbilical cord ulceration-intestinal atresia syndrome skos:closeMatch Orphanet:3405 Umbilical cord ulceration-intestinal atresia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931371 MONDO:0018087 viral hemorrhagic fever skos:closeMatch Orphanet:341 Viral hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019104 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016207 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 -MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031069 MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial mediterranean fever +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 MONDO:0018088 familial Mediterranean fever skos:exactMatch OMIM:249100 familial mediterranean fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label familial mediterranean fever -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013611 -MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013069 +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031069 +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10016207 +MONDO:0018088 familial Mediterranean fever skos:closeMatch Orphanet:342 Familial Mediterranean fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010505 MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004310 +MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013069 +MONDO:0018089 double outlet right ventricle skos:closeMatch Orphanet:3426 Double outlet right ventricle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013611 MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome skos:closeMatch Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931177 MONDO:0018092 Vogt-Koyanagi-Harada disease skos:closeMatch Orphanet:3437 Vogt-Koyanagi-Harada disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042170 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 -MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069203 -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 -MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265313 +MONDO:0018094 Waardenburg syndrome skos:closeMatch Orphanet:3440 Waardenburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014849 +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital +MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056846 -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome +MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265313 +MONDO:0018096 Weill-Marchesani syndrome skos:closeMatch Orphanet:3449 Weill-Marchesani syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064963 MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:277600 weill-marchesani syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spherophakia-brachymorphia syndrome -MONDO:0018096 Weill-Marchesani syndrome skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mesodermal dysmorphodystrophy, congenital MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021750 -MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile spasms syndrome +MONDO:0018097 West syndrome skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 +MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010036 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011005 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003317 -MONDO:0018102 corneal dystrophy skos:closeMatch Orphanet:34533 Corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010036 +MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043207 MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014929 -MONDO:0018105 Wolfram syndrome skos:closeMatch Orphanet:3463 Wolfram syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043207 MONDO:0018106 hereditary xanthinuria skos:exactMatch OMIM:278300 xanthinuria, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency MONDO:0018106 hereditary xanthinuria skos:exactMatch Orphanet:93601 Xanthinuria type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xanthine dehydrogenase deficiency MONDO:0018115 epidermal nevus syndrome skos:closeMatch Orphanet:35125 Epidermal nevus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014985 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017604 -MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016952 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 +MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016952 MONDO:0018116 galactosemia skos:closeMatch Orphanet:352 Galactosemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 MONDO:0018124 Oncogenic osteomalacia skos:closeMatch Orphanet:352540 Oncogenic osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1274103 MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:exactMatch OMIM:606952 albinism, oculocutaneous, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oca1-ts @@ -29074,25 +29081,25 @@ MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 skos:closeMat MONDO:0018141 pyruvate carboxylase deficiency, infantile form skos:closeMatch Orphanet:353308 Pyruvate carboxylase deficiency, infantile type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyruvate carboxylase deficiency, infantile type MONDO:0018148 vasoproliferative tumor of retina skos:closeMatch Orphanet:353356 Vasoproliferative tumor of the retina semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vasoproliferative tumor of the retina MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 -MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085131 +MONDO:0018149 GM1 gangliosidosis skos:closeMatch Orphanet:354 GM1 gangliosidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016537 MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glb1 deficiency MONDO:0018149 GM1 gangliosidosis skos:exactMatch OMIM:230500 gm1-gangliosidosis, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym beta-galactosidase-1 deficiency -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018048 -MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency -MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 +MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018048 MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017205 +MONDO:0018150 Gaucher disease skos:closeMatch Orphanet:355 Gaucher disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005776 +MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acid beta-glucosidase deficiency MONDO:0018150 Gaucher disease skos:exactMatch OMIM:230800 gaucher disease, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glucocerebrosidase deficiency MONDO:0018151 coenzyme Q10 deficiency skos:closeMatch Orphanet:35656 Coenzyme Q10 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843920 MONDO:0018152 serpiginous choroiditis skos:closeMatch Orphanet:35686 Serpiginous choroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0729842 MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 -MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060801 MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0878675 MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d031249 +MONDO:0018153 Erdheim-Chester disease skos:closeMatch Orphanet:35687 Erdheim-Chester disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060801 MONDO:0018154 Madelung deformity skos:exactMatch OMIM:127300 leri-weill dyschondrosteosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym madelung deformity -MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036704 MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0154682 +MONDO:0018155 lateral sclerosis skos:closeMatch Orphanet:35689 Primary lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036704 MONDO:0018158 mitochondrial DNA depletion syndrome skos:closeMatch Orphanet:35698 Mitochondrial DNA depletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059396 MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:790 Retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 MONDO:0018160 hereditary retinoblastoma skos:closeMatch Orphanet:357027 Hereditary retinoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180200 @@ -29102,25 +29109,25 @@ MONDO:0018163 autosomal recessive cutis laxa type 2A skos:closeMatch Orphanet:35 MONDO:0018164 arterial thoracic outlet syndrome skos:closeMatch Orphanet:357107 Arterial thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956395 MONDO:0018165 venous thoracic outlet syndrome skos:closeMatch Orphanet:357131 Venous thoracic outlet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1956396 MONDO:0018166 oral submucous fibrosis skos:closeMatch Orphanet:357154 Oral submucous fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029172 -MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549307 MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027974 +MONDO:0018169 morning glory syndrome skos:closeMatch Orphanet:35737 Morning glory disc anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0549307 MONDO:0018170 idiopathic nephrotic syndrome skos:closeMatch Orphanet:357502 Idiopathic nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3496337 -MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian germ cell cancer MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ovarian germ cell cancer MONDO:0018171 malignant germ cell tumor of ovary skos:closeMatch Orphanet:35807 Malignant germ cell tumor of ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346180 +MONDO:0018171 malignant germ cell tumor of ovary skos:exactMatch OMIM:603737 ovarian germ cell cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ovarian germ cell cancer MONDO:0018175 combined deficiency of factor V and factor VIII skos:closeMatch Orphanet:35909 Combined deficiency of factor V and factor VIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1856883 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018336 -MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018337 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018337 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 +MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018336 MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005909 MONDO:0018177 glioblastoma skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glioblastoma multiforme MONDO:0018177 glioblastoma skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017636 MONDO:0018178 intestinal lymphangiectasia skos:closeMatch Orphanet:36204 Intestinal lymphangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025213 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 +MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041929 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013206 MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038165 -MONDO:0018181 staphylococcal scalded skin syndrome skos:closeMatch Orphanet:36236 Staphylococcal scalded skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041929 MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0021100 MONDO:0018182 bullous impetigo skos:closeMatch Orphanet:36237 Bullous impetigo semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006563 MONDO:0018188 genetic intestinal polyposis skos:closeMatch Orphanet:363314 Genetic intestinal polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2713443 @@ -29134,19 +29141,19 @@ MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome sk MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome skos:closeMatch Orphanet:363958 17q21.31 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864871 MONDO:0018221 immune hydrops fetalis skos:closeMatch Orphanet:364013 Immune hydrops fetalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0455990 MONDO:0018226 infantile epileptic-dyskinetic encephalopathy skos:exactMatch OMIM:308350 developmental and epileptic encephalopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym infantile epileptic-dyskinetic encephalopathy -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic epidermal necrolysis, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe cutaneous adverse reaction, susceptibility to -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stevens-johnson syndrome, susceptibility to MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042033 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe cutaneous adverse reaction, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038325 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stevens-johnson syndrome, susceptibility to MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersensitivity syndrome, carbamazepine-induced, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe cutaneous adverse reaction, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym toxic epidermal necrolysis, susceptibility to MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch NCIT:C3385 Erythema Multiforme Major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038325 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:502499 Erythema multiforme major semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema multiforme major MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608579 -MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe cutaneous adverse reaction, susceptibility to +MONDO:0018229 Stevens-Johnson syndrome skos:closeMatch Orphanet:36426 Stevens-Johnson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013262 MONDO:0018233 otopalatodigital syndrome spectrum disorder skos:closeMatch Orphanet:364541 Otopalatodigital syndrome spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748918 MONDO:0018234 dysostosis skos:closeMatch Orphanet:364559 Dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013393 MONDO:0018242 autoimmune hypoparathyroidism skos:closeMatch Orphanet:36913 Autoimmune hypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271865 @@ -29160,41 +29167,41 @@ MONDO:0018271 peripheral primitive neuroectodermal tumor skos:closeMatch Orphane MONDO:0018274 GM3 synthase deficiency skos:closeMatch Orphanet:370933 GM3 synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609056 MONDO:0018274 GM3 synthase deficiency skos:closeMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym salt and pepper mental retardation syndrome MONDO:0018276 muscular dystrophy-dystroglycanopathy skos:closeMatch Orphanet:370953 Congenital muscular dystrophy due to dystroglycanopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital muscular dystrophy due to dystroglycanopathy +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600040 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282488 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011796 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1720830 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282488 -MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0600040 MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062908 -MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524988 +MONDO:0018301 interstitial cystitis skos:closeMatch Orphanet:37202 Interstitial cystitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018856 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019873 +MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062908 +MONDO:0018304 Schnitzler syndrome skos:closeMatch Orphanet:37748 Schnitzler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0524988 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008906 +MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018203 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006105 -MONDO:0018305 chronic granulomatous disease skos:closeMatch Orphanet:379 Chronic granulomatous disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018203 MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 MONDO:0018307 neurodegeneration with brain iron accumulation skos:closeMatch Orphanet:385 Neurodegeneration with brain iron accumulation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538421 -MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334091 MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatic cystic hamartoma +MONDO:0018308 liver mesenchymal hamartoma skos:closeMatch Orphanet:386 Hepatic cystic hamartoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334091 +MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aganglionic megacolon +MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010539 +MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019569 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3661523 MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010539 -MONDO:0018309 Hirschsprung disease skos:closeMatch Orphanet:388 Hirschsprung disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006627 -MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym aganglionic megacolon -MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018309 Hirschsprung disease skos:exactMatch OMIM:142623 hirschsprung disease, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch -MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch OMIM:604856 langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069698 MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604856 MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:389 Langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019621 +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch Orphanet:86823 Lissencephaly with cerebellar hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch +MONDO:0018310 Langerhans cell histiocytosis skos:closeMatch OMIM:604856 langerhans cell histiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lch MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019655 -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 -MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020141 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 +MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020141 +MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021808 MONDO:0018312 histoplasmosis skos:closeMatch Orphanet:390 Histoplasmosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006660 MONDO:0018315 X-linked osteoporosis with fractures skos:closeMatch Orphanet:391330 X-linked osteoporosis with fractures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300910 MONDO:0018326 transient neonatal myasthenia gravis skos:closeMatch Orphanet:391504 Transient neonatal myasthenia gravis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0495465 @@ -29209,155 +29216,155 @@ MONDO:0018354 Prader-Willi-like syndrome skos:exactMatch OMIM:615547 schaaf-yang MONDO:0018360 neonatal lupus erythematosus skos:closeMatch Orphanet:398124 Neonatal lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409979 MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537068 MONDO:0018363 focal facial dermal dysplasia skos:closeMatch Orphanet:79133 Focal facial dermal dysplasia type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537068 -MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma MONDO:0018369 immature ovarian teratoma skos:closeMatch NCIT:C4286 Immature Teratoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immature teratoma +MONDO:0018369 immature ovarian teratoma skos:exactMatch NCIT:C39995 Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma MONDO:0018371 nebulin-related early-onset distal myopathy skos:closeMatch Orphanet:399103 Distal nebulin myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label distal nebulin myopathy MONDO:0018373 avascular necrosis skos:exactMatch NCIT:C118385 Avascular Necrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label avascular necrosis MONDO:0018378 osteonecrosis of the jaw skos:closeMatch Orphanet:399293 Osteonecrosis of the jaw semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2711248 MONDO:0018381 osteochondrosis skos:closeMatch NCIT:C34877 Osteochondritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondritis -MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 MONDO:0018381 osteochondrosis skos:exactMatch NCIT:C118381 Apophysitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label apophysitis +MONDO:0018381 osteochondrosis skos:closeMatch Orphanet:399319 Osteochondrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029429 MONDO:0018382 epiphysiolysis of the hip skos:exactMatch NCIT:C118384 Slipped Capital Femoral Epiphysis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label slipped capital femoral epiphysis -MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014096 MONDO:0018408 cystic echinococcosis skos:exactMatch NCIT:C122289 Echinococcus granulosus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label echinococcus granulosus +MONDO:0018408 cystic echinococcosis skos:closeMatch Orphanet:400 Cystic echinococcosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014096 MONDO:0018424 inherited lipoic acid biosynthesis defect skos:closeMatch Orphanet:401854 Lipoic acid biosynthesis defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lipoic acid biosynthesis defect MONDO:0018432 lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym papular mucinosis MONDO:0018439 eosinophilic colitis skos:closeMatch Orphanet:402035 Eosinophilic colitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267448 MONDO:0018440 autosomal recessive distal renal tubular acidosis skos:closeMatch Orphanet:402041 Autosomal recessive distal renal tubular acidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1864498 MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome skos:closeMatch Orphanet:404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618272 MONDO:0018447 chondromyxoid fibroma skos:closeMatch Orphanet:404507 Chondromyxoid fibroma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221290 -MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym b-k mole syndrome +MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:exactMatch OMIM:606719 melanoma-pancreatic cancer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial atypical multiple mole melanoma-pancreatic carcinoma syndrome MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018453 familial atypical multiple mole melanoma syndrome skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342637 MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:405 Familial hypocalciuric hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 -MONDO:0018458 familial hypocalciuric hypercalcemia skos:closeMatch Orphanet:93372 Familial hypocalciuric hypercalcemia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1809471 -MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperglycerolemia MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch NCIT:C124845 Hyperglycerolemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperglycerolemia -MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271073 +MONDO:0018459 isolated glycerol kinase deficiency skos:exactMatch OMIM:307030 glycerol kinase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperglycerolemia MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057429 MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 +MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271073 MONDO:0018460 Eales disease skos:closeMatch Orphanet:40923 Eales disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538011 MONDO:0018465 insulin autoimmune syndrome skos:closeMatch Orphanet:411593 Insulin autoimmune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854359 +MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, atypical nephropathic MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosin, defect of MONDO:0018467 nephropathic infantile cystinosis skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cystinosis, infantile nephropathic -MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystinosis, atypical nephropathic MONDO:0018467 nephropathic infantile cystinosis skos:closeMatch OMIM:219800 cystinosis, nephropathic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lysosomal cystine transport protein, defect of -MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal aplasia -MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal adysplasia -MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal aplasia MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym renal agenesis +MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary renal aplasia MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal agenesis +MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal adysplasia +MONDO:0018470 renal agenesis skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym renal aplasia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hypercholesterolemia with hyperlipemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-betalipoproteinemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coronary artery disorder, severe, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein e, deficiency or defect of MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hyperbeta- and prebetalipoproteinemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060751 MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperlipemia with familial hypercholesterolemic xanthomatosis -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hypercholesterolemia with hyperlipemia +MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617347 +MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym low density lipoprotein cholesterol level quantitative trait locus type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020479 MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysbetalipoproteinemia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617347 -MONDO:0018473 hyperlipoproteinemia type 3 skos:exactMatch NCIT:C34710 Remnant Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label remnant hyperlipidemia -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch Orphanet:412 Dysbetalipoproteinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060751 -MONDO:0018473 hyperlipoproteinemia type 3 skos:closeMatch OMIM:617347 hyperlipoproteinemia, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floating-betalipoproteinemia MONDO:0018477 bilirubin encephalopathy skos:closeMatch Orphanet:529808 Chronic bilirubin encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kernicterus spectrum disorder -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 -MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001627 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch NCIT:C131426 Congenital Lipoid Adrenal Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital lipoid adrenal hyperplasia MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:181412 Adrenogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0701163 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000312 +MONDO:0018479 congenital adrenal hyperplasia skos:closeMatch Orphanet:418 Congenital adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010323 MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset skos:closeMatch Orphanet:420429 Glycogen storage disease due to acid maltase deficiency, late-onset semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3888925 MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency skos:closeMatch Orphanet:79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0580190 MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 -MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020844 MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024591 MONDO:0018493 malignant hyperthermia of anesthesia skos:exactMatch OMIM:145600 malignant hyperthermia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperthermia of anesthesia MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008305 +MONDO:0018493 malignant hyperthermia of anesthesia skos:closeMatch Orphanet:423 Malignant hyperthermia of anesthesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020844 MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018500 cutaneous larva migrans skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018510 small intestine neuroendocrine neoplasm skos:closeMatch Orphanet:423975 Neuroendocrine tumor of the small intestine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of the small intestine MONDO:0018515 squamous cell carcinoma of rectum skos:closeMatch Orphanet:424002 Squamous cell carcinoma of the rectum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1335690 MONDO:0018521 squamous cell carcinoma of pancreas skos:exactMatch NCIT:C173813 Pancreatic Squamous Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic squamous cell carcinoma -MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucinous cystadenocarcinoma of the pancreas +MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic mucinous cystadenocarcinoma MONDO:0018523 pancreatic mucinous cystadenoma skos:closeMatch NCIT:C5713 Pancreatic Mucinous Cystadenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic mucinous cystadenocarcinoma -MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome -MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall syndrome MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch OMIM:154780 marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym marshall syndrome MONDO:0018540 PFAPA syndrome skos:closeMatch NCIT:C128115 Marshall Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome +MONDO:0018540 PFAPA syndrome skos:closeMatch Orphanet:560 Marshall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label marshall syndrome MONDO:0018542 severe congenital neutropenia skos:closeMatch Orphanet:42738 Severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052210 -MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sudanophilic cerebral sclerosis -MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051260 -MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:43 X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000326 MONDO:0018544 adrenoleukodystrophy skos:exactMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label diffuse cerebral sclerosis of schilder +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:59298 Schilder disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007795 MONDO:0018544 adrenoleukodystrophy skos:narrowMatch ICD10CM:E71.528 Other X-linked adrenoleukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym x-linked adrenoleukodystrophy semapv:RegularExpressionReplacement +MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sudanophilic cerebral sclerosis +MONDO:0018544 adrenoleukodystrophy skos:exactMatch OMIM:272100 sudanophilic cerebral sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sudanophilic cerebral sclerosis +MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139396 X-linked cerebral adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 MONDO:0018544 adrenoleukodystrophy skos:closeMatch Orphanet:139399 Adrenomyeloneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300100 -MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020230 +MONDO:0018546 serotonin syndrome skos:closeMatch Orphanet:43116 Serotonin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040108 MONDO:0018555 hypogonadotropic hypogonadism skos:exactMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gonadotropic deficiency -MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch Orphanet:238666 Isolated congenital hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated congenital gonadotropin deficiency -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022972 -MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067685 +MONDO:0018555 hypogonadotropic hypogonadism skos:closeMatch NCIT:C120145 Isolated Hypogonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hypogonadotropic hypogonadism MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015624 -MONDO:0018570 hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoethanolaminuria -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 -MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 +MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022972 +MONDO:0018556 Lambert-Eaton myasthenic syndrome skos:closeMatch Orphanet:43393 Lambert-Eaton myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067685 MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049933 MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020630 +MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 +MONDO:0018570 hypophosphatasia skos:closeMatch Orphanet:436 Hypophosphatasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007014 +MONDO:0018570 hypophosphatasia skos:exactMatch OMIM:241500 hypophosphatasia, infantile semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym phosphoethanolaminuria MONDO:0018579 disorder of ketone body transport skos:closeMatch Orphanet:438072 Disorder of keton body transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of keton body transport MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus skos:closeMatch Orphanet:438266 Progressive encephalomyelitis with rigidity and myoclonus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1861457 -MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018582 GCGR-related hyperglucagonemia skos:exactMatch OMIM:619290 mahvash disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mahvash disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018597 plastic bronchitis skos:closeMatch Orphanet:439881 Plastic bronchitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0264342 MONDO:0018603 interstitial lung disease due to SP-C deficiency skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931939 -MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 +MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393911 MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054970 -MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 +MONDO:0018608 pure autonomic failure skos:closeMatch Orphanet:441 Pure autonomic failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931939 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010510 +MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010308 MONDO:0018612 congenital hypothyroidism skos:closeMatch Orphanet:442 Congenital hypothyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003409 MONDO:0018615 hemicrania continua skos:exactMatch NCIT:C117081 Hemicrania Continua semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemicrania continua MONDO:0018616 central serous chorioretinopathy skos:closeMatch Orphanet:443079 Central serous chorioretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730328 -MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030528 MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34894 Paratyphoid Fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34895 Paratyphoid Fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b MONDO:0018626 paratyphoid fever skos:closeMatch NCIT:C34896 Paratyphoid Fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c +MONDO:0018626 paratyphoid fever skos:closeMatch Orphanet:443227 Paratyphoid fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030528 MONDO:0018630 hereditary nonpolyposis colon cancer skos:closeMatch Orphanet:443909 Hereditary nonpolyposis colon cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0009405 -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931059 -MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:146550 -MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206246 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535912 +MONDO:0018631 Marie Unna hereditary hypotrichosis skos:closeMatch Orphanet:444 Marie Unna hereditary hypotrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931059 MONDO:0018634 hereditary amyloidosis skos:closeMatch NCIT:C84555 Familial Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial amyloidosis -MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 +MONDO:0018634 hereditary amyloidosis skos:closeMatch Orphanet:444116 Hereditary amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206246 MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:444916 Pseudohypoaldosteronism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033805 -MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis +MONDO:0018638 pseudohypoaldosteronism skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 MONDO:0018646 sclerosing cholangitis skos:closeMatch Orphanet:447771 Sclerosing cholangitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008313 -MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618373 +MONDO:0018646 sclerosing cholangitis skos:exactMatch Orphanet:171 Primary sclerosing cholangitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary sclerosing cholangitis MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma -MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684275 +MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome skos:closeMatch Orphanet:447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618373 MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061992 +MONDO:0018660 hemophilia skos:closeMatch Orphanet:448 Hemophilia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0684275 MONDO:0018663 regressive spondylometaphyseal dysplasia skos:closeMatch Orphanet:448267 Regressive spondylometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618019 -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 -MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatoblastoma MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062001 -MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 +MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206624 +MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hepatoblastoma MONDO:0018666 hepatoblastoma skos:exactMatch OMIM:114550 hepatocellular carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatoblastoma +MONDO:0018666 hepatoblastoma skos:closeMatch Orphanet:449 Hepatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018197 MONDO:0018667 pleural empyema skos:closeMatch NCIT:C45692 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax MONDO:0018667 pleural empyema skos:closeMatch NCIT:C34572 Empyema semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label empyema MONDO:0018677 visceral heterotaxy skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067265 @@ -29368,35 +29375,35 @@ MONDO:0018685 incessant infant ventricular tachycardia skos:closeMatch Orphanet: MONDO:0018686 acquired Creutzfeldt-Jakob disease skos:closeMatch Orphanet:204 Sporadic Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sporadic cjd MONDO:0018687 progressive muscular atrophy skos:closeMatch Orphanet:454706 Progressive muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0917981 MONDO:0018689 plasma cell leukemia skos:closeMatch Orphanet:454714 Plasma cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023484 -MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001519 MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:103100 MONDO:0018690 Holmes-Adie syndrome skos:closeMatch OMIM:103100 adie pupil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poorly reacting pupils +MONDO:0018690 Holmes-Adie syndrome skos:closeMatch Orphanet:454718 Holmes-Adie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001519 MONDO:0018694 isolated tracheo-esophageal fistula skos:closeMatch Orphanet:454750 Isolated tracheoesophageal fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated tracheoesophageal fistula -MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:604667 CADPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:114212 CAPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps +MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch OMIM:604667 CADPS semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018737 catastrophic antiphospholipid syndrome skos:exactMatch Orphanet:208650 Cryopyrin-associated periodic syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym caps MONDO:0018746 mucous membrane pemphigoid skos:closeMatch Orphanet:46486 Mucous membrane pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057052 MONDO:0018746 mucous membrane pemphigoid skos:closeMatch NCIT:C34907 Benign Mucous Membrane Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign mucous membrane pemphigoid -MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079293 MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056508 +MONDO:0018747 acquired epidermolysis bullosa skos:closeMatch Orphanet:46487 Epidermolysis bullosa acquisita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079293 MONDO:0018747 acquired epidermolysis bullosa skos:narrowMatch ICD10CM:L12.35 Other acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym acquired epidermolysis bullosa semapv:RegularExpressionReplacement MONDO:0018747 acquired epidermolysis bullosa skos:narrowMatch ICD10CM:L12.35 Other acquired epidermolysis bullosa semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym acquired epidermolysis bullosa semapv:RegularExpressionReplacement -MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024515 MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406650 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 +MONDO:0018748 linear IgA Dermatosis skos:closeMatch Orphanet:46488 Linear IgA dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024515 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613566 -MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:231237 Delta-beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141749 -MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome +MONDO:0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome skos:closeMatch Orphanet:46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:142470 MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label desanto-shinawi syndrome +MONDO:0018760 DeSanto-Shinawi syndrome skos:exactMatch OMIM:616708 desanto-shinawi syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym desanto-shinawi syndrome MONDO:0018764 microcephalic primordial dwarfism due to RTTN deficiency skos:closeMatch Orphanet:468631 Microcephalic cortical malformations-short stature due to RTTN deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614833 MONDO:0018765 cryptogenic multifocal ulcerous stenosing enteritis skos:closeMatch Orphanet:468635 Cryptogenic multifocal ulcerous stenosing enteritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4302263 -MONDO:0018767 severe primary trimethylaminuria skos:closeMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-odor syndrome MONDO:0018767 severe primary trimethylaminuria skos:closeMatch Orphanet:468726 Severe primary trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602079 +MONDO:0018767 severe primary trimethylaminuria skos:closeMatch OMIM:602079 trimethylaminuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fish-odor syndrome MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343068 MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial cold urticaria MONDO:0018768 familial cold autoinflammatory syndrome skos:closeMatch Orphanet:47045 Familial cold urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064570 @@ -29404,55 +29411,55 @@ MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:Lexi MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d021865 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10023076 MONDO:0018769 isosporiasis skos:closeMatch Orphanet:472 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0311386 -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057621 -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 -MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym jeune syndrome MONDO:0018770 Jeune syndrome skos:exactMatch OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeune syndrome +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265275 +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057621 +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 +MONDO:0018770 Jeune syndrome skos:closeMatch Orphanet:474 Jeune syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537571 MONDO:0018771 congenital anomaly of ventricular septum skos:closeMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital anomaly of ventricular septum -MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym joubert syndrome MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert-boltshauser syndrome MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome -MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048786 +MONDO:0018772 Joubert syndrome skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym joubert syndrome MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265336 -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrointestinal ulceration, recurrent, with dysfunctional platelets -MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phospholipase a2, group iva, deficiency of +MONDO:0018781 KID syndrome skos:closeMatch Orphanet:477 KID syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048786 MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastrointestinal ulceration, recurrent, with dysfunctional platelets +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phospholipase a2, group iva, deficiency of +MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrointestinal ulceration, recurrent, with dysfunctional platelets MONDO:0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder skos:closeMatch Orphanet:477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618372 -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 +MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053142 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 -MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053142 +MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:3157 Septo-optic dysplasia spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162809 MONDO:0018800 Kallmann syndrome skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017436 MONDO:0018801 congenital bilateral absence of vas deferens skos:closeMatch Orphanet:48 Congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010670 MONDO:0018805 bile duct cyst skos:exactMatch NCIT:C2943 Choledochal Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label choledochal cyst -MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing cholangitis, neonatal MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sclerosing cholangitis, neonatal +MONDO:0018816 isolated neonatal sclerosing cholangitis skos:closeMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sclerosing cholangitis, neonatal MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome skos:closeMatch Orphanet:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616878 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037635 +MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017511 -MONDO:0018824 pyoderma gangrenosum skos:closeMatch Orphanet:48104 Pyoderma gangrenosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085652 MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065580 MONDO:0018826 Lewis-Sumner syndrome skos:closeMatch Orphanet:48162 Lewis-Sumner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1695985 -MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617397 MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label usp18 deficiency +MONDO:0018828 pseudo-TORCH syndrome 2 skos:closeMatch Orphanet:481665 USP18 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617397 +MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048640 +MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033838 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000796 -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033838 -MONDO:0018830 Kimura disease skos:closeMatch Orphanet:482 Kimura disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048640 -MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266463 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048911 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054082 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 -MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292753 +MONDO:0018838 lissencephaly spectrum disorders skos:closeMatch Orphanet:48471 Lissencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266463 MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065857 +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 MONDO:0018842 primary effusion lymphoma skos:closeMatch NCIT:C3471 AIDS-Related Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids-related lymphoma -MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292753 +MONDO:0018842 primary effusion lymphoma skos:closeMatch Orphanet:48686 Primary effusion lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054685 MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch NCIT:C3752 Embryonal Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma +MONDO:0018843 embryonal carcinoma of the central nervous system skos:closeMatch Orphanet:180226 Embryonal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label embryonal carcinoma MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014496 MONDO:0018844 urachal cyst skos:closeMatch Orphanet:488 Urachal cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065375 @@ -29461,144 +29468,144 @@ MONDO:0018846 penile agenesis skos:closeMatch OMIM:264600 pseudovaginal perineos MONDO:0018846 penile agenesis skos:closeMatch Orphanet:49 Penile agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536649 MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:exactMatch NCIT:C123249 Idiopathic Retroperitoneal Fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label idiopathic retroperitoneal fibrosis MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 -MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012185 -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054013 +MONDO:0018848 IgG4-related retroperitoneal fibrosis skos:closeMatch Orphanet:49041 IgG4-related retroperitoneal fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038979 MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 -MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 -MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dentinogenesis imperfecta without osteogenesis imperfecta +MONDO:0018849 dentinogenesis imperfecta skos:exactMatch OMIM:125490 dentinogenesis imperfecta 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opalescent teeth without osteogenesis imperfecta +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054013 +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011436 +MONDO:0018849 dentinogenesis imperfecta skos:closeMatch Orphanet:49042 Dentinogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003811 MONDO:0018850 proliferating trichilemmal cyst skos:exactMatch OMIM:609649 trichilemmal cyst 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pilar cyst -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152200 -MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000454 MONDO:0018852 achromatopsia skos:exactMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pingelapese blindness +MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000454 +MONDO:0018852 achromatopsia skos:closeMatch Orphanet:49382 Achromatopsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152200 MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0018853 transgrediens et progrediens palmoplantar keratoderma skos:exactMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037556 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043068 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037556 MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:100067 Waterhouse-Friderichsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014884 +MONDO:0018854 acquired purpura fulminans skos:closeMatch Orphanet:49566 Acquired purpura fulminans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055665 MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym folliculitis ulerythematosa reticulata +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch NCIT:C124070 Keratosis Pilaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis pilaris +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia vermiculata MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym honeycomb atrophy -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch NCIT:C124070 Keratosis Pilaris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis pilaris -MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:3406 Ulerythema ophryogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ulerythema ophryogenesis MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:2340 Keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch Orphanet:79100 Atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604093 -MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562462 +MONDO:0018855 keratosis pilaris atrophicans skos:closeMatch OMIM:209700 atrophoderma vermiculata semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrophodermia reticulata symmetrica faciei MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007815 +MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1562462 MONDO:0018857 creeping myiasis skos:closeMatch Orphanet:504 Creeping myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059547 MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 MONDO:0018864 Kikuchi-Fujimoto disease skos:closeMatch Orphanet:50918 Kikuchi-Fujimoto disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0398367 -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aicardi-goutières syndrome -MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudotoxoplasmosis syndrome +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aicardi-goutières syndrome MONDO:0018866 Aicardi-Goutieres syndrome skos:exactMatch OMIM:225750 aicardi-goutieres syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cree encephalitis +MONDO:0018866 Aicardi-Goutieres syndrome skos:closeMatch Orphanet:51 Aicardi-Goutières syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535607 MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023522 +MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067609 MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007966 -MONDO:0018868 metachromatic leukodystrophy skos:closeMatch Orphanet:512 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067609 -MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arylsulfatase a deficiency MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym metachromatic leukodystrophy +MONDO:0018868 metachromatic leukodystrophy skos:exactMatch OMIM:250100 metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metachromatic leukodystrophy MONDO:0018869 cobblestone lissencephaly skos:exactMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lissencephaly type 2 semapv:RegularExpressionReplacement MONDO:0018869 cobblestone lissencephaly skos:exactMatch OMIM:257320 lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 2 semapv:RegularExpressionReplacement MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 MONDO:0018870 arterial calcification of infancy skos:closeMatch Orphanet:51608 Generalized arterial calcification of infancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537440 MONDO:0018870 arterial calcification of infancy skos:exactMatch OMIM:208000 arterial calcification, generalized, of infancy, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic infantile arterial calcification -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000890 MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 +MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000890 MONDO:0018872 acute megakaryoblastic leukemia skos:closeMatch Orphanet:518 Acute megakaryoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023462 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myelogenous +MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute myeloid +MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid +MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid, susceptibility to MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000880 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023467 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 -MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid, susceptibility to -MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukemia, acute myeloid -MONDO:0018874 acute myeloid leukemia skos:closeMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukemia, acute myeloid -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:519 Acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319465 Inherited acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:167714 Unclassified acute myeloid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sbla syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome -MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym li-fraumeni syndrome +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 +MONDO:0018874 acute myeloid leukemia skos:closeMatch Orphanet:319480 Acute myeloid leukemia with CEBPA somatic mutations semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601626 MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085390 MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066795 +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label li-fraumeni syndrome MONDO:0018875 Li-Fraumeni syndrome skos:closeMatch Orphanet:524 Li-Fraumeni syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016864 +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sbla syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label li-fraumeni syndrome +MONDO:0018875 Li-Fraumeni syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym li-fraumeni syndrome +MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061275 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020522 -MONDO:0018876 mantle cell lymphoma skos:closeMatch Orphanet:52416 Mantle cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061275 MONDO:0018877 retinitis punctata albescens skos:exactMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym retinitis punctata albescens MONDO:0018878 branchiootic syndrome skos:exactMatch OMIM:602588 branchiootic syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym branchiootic dysplasia MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 -MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535892 -MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463824 +MONDO:0018879 lichen planopilaris skos:closeMatch Orphanet:525 Lichen planopilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023645 +MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10CM:D46.Z Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614286 +MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3463824 MONDO:0018881 myelodysplastic syndrome skos:closeMatch OMIM:614286 myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelodysplastic syndrome, susceptibility to -MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10WHO:D46.7 Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement -MONDO:0018881 myelodysplastic syndrome skos:narrowMatch ICD10CM:D46.Z Other myelodysplastic syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym myelodysplastic syndromes semapv:RegularExpressionReplacement -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036023 -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 +MONDO:0018881 myelodysplastic syndrome skos:exactMatch NCIT:C8648 Myelodysplastic Syndrome, Unclassifiable semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelodysplastic syndrome, unclassifiable +MONDO:0018881 myelodysplastic syndrome skos:closeMatch Orphanet:52688 Myelodysplastic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028532 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym systemic vasculitis -MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042384 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014657 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047115 +MONDO:0018882 vasculitis skos:closeMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036023 +MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lawrence-seip syndrome MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024603 MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital generalized lipodystrophy MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:528 Congenital generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch OMIM:151660 lipodystrophy, familial partial, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoatrophic diabetes -MONDO:0018883 Berardinelli-Seip congenital lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lawrence-seip syndrome MONDO:0018891 familial tumoral calcinosis skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059364 -MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536752 MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048661 +MONDO:0018892 Wyburn-Mason syndrome skos:closeMatch Orphanet:53719 Wyburn-Mason syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265321 MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068841 MONDO:0018893 Cobb syndrome skos:closeMatch Orphanet:53721 Spinal arteriovenous metameric syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346068 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 -MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040664 +MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032249 +MONDO:0018895 Plummer-Vinson syndrome skos:closeMatch Orphanet:54028 Plummer-Vinson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011004 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011697 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034155 MONDO:0018896 thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:54057 Thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043648 -MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:541 Primary cutaneous CD30+ T-cell lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 +MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease skos:closeMatch Orphanet:300865 Primary cutaneous anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065863 MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051708 MONDO:0018898 primary cutaneous lymphoma skos:closeMatch Orphanet:542 Primary cutaneous lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302772 MONDO:0018901 left ventricular noncompaction skos:closeMatch Orphanet:54260 Left ventricular noncompaction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960469 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206669 -MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019827 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018248 -MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039483 +MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206669 +MONDO:0018902 hepatocellular adenoma skos:closeMatch Orphanet:54272 Hepatocellular adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019827 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036231 +MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039483 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 MONDO:0018903 sarcocystosis skos:closeMatch Orphanet:54368 Sarcocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012523 MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch Orphanet:54370 Primary membranoproliferative glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018370 @@ -29606,155 +29613,155 @@ MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch O MONDO:0018904 primary membranoproliferative glomerulonephritis skos:closeMatch NCIT:C34644 Membranoproliferative Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label membranoproliferative glomerulonephritis MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016403 -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079744 MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012818 -MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 +MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch Orphanet:544 Diffuse large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0079744 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024301 -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010276 +MONDO:0018906 follicular lymphoma skos:closeMatch Orphanet:545 Follicular lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008224 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 -MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011318 MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003397 +MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010276 +MONDO:0018907 craniopharyngioma skos:closeMatch Orphanet:54595 Craniopharyngioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011318 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym non-hodgkin lymphoma -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0018908 non-Hodgkin lymphoma skos:exactMatch OMIM:605027 lymphoma, non-hodgkin, familial semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym non-hodgkin lymphoma -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 -MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024305 MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:547 Non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029547 +MONDO:0018908 non-Hodgkin lymphoma skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008228 MONDO:0018910 oculocutaneous albinism skos:narrowMatch ICD10CM:E70.328 Other oculocutaneous albinism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym oculocutaneous albinism semapv:RegularExpressionReplacement MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 -MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0078918 +MONDO:0018910 oculocutaneous albinism skos:closeMatch Orphanet:55 Oculocutaneous albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016115 MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342276 MONDO:0018911 maturity-onset diabetes of the young skos:closeMatch Orphanet:552 MODY semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606391 -MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement -MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020610 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011652 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020564 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020610 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001622 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020562 -MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020564 -MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854310 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003480 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:553 Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000308 +MONDO:0018912 Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0010481 +MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement +MONDO:0018912 Cushing syndrome skos:narrowMatch ICD10WHO:E24.8 Other Cushing syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym cushing syndrome semapv:RegularExpressionReplacement MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 +MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1854310 MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary hypotrichosis simplex MONDO:0018914 hypotrichosis simplex skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537160 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0235782 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007426 MONDO:0018918 carcinoma of gallbladder and extrahepatic biliary tract skos:closeMatch Orphanet:56044 Carcinoma of gallbladder and extrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153452 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016065 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia +MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 -MONDO:0018919 McCune-Albright syndrome skos:closeMatch NCIT:C34610 Polyostotic Fibrous Dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyostotic fibrous dysplasia -MONDO:0018919 McCune-Albright syndrome skos:closeMatch OMIM:174800 mccune-albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyostotic fibrous dysplasia +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174800 MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:562 McCune-Albright syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242292 -MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049430 +MONDO:0018919 McCune-Albright syndrome skos:closeMatch Orphanet:93276 Polyostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005359 MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0269972 -MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meckel syndrome -MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0018920 peripartum cardiomyopathy skos:closeMatch Orphanet:563 Peripartum cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049430 MONDO:0018921 Meckel syndrome skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265215 +MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meckel-gruber syndrome +MONDO:0018921 Meckel syndrome skos:exactMatch OMIM:249000 meckel syndrome, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meckel syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012979 -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label digeorge syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066430 -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cayler cardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge sequence -MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch NCIT:C2989 22q11.2 Deletion Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label 22q11.2 deletion syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym conotruncal anomaly face syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cayler cardiofacial syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label digeorge syndrome +MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:188400 digeorge syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym digeorge syndrome MONDO:0018923 22q11.2 deletion syndrome skos:exactMatch OMIM:125520 cayler cardiofacial syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cayler cardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label velocardiofacial syndrome MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch OMIM:192430 velocardiofacial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome -MONDO:0018923 22q11.2 deletion syndrome skos:closeMatch Orphanet:567 22q11.2 deletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym velocardiofacial syndrome MONDO:0018924 microphthalmia, Lenz type skos:closeMatch OMIM:309800 microphthalmia, syndromic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lenz dysplasia MONDO:0018926 human prion disease skos:exactMatch NCIT:C128346 Transmissible Spongiform Encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transmissible spongiform encephalopathy -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061981 -MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 +MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061981 MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262087 -MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy type 21 semapv:RegularExpressionReplacement +MONDO:0018927 SUNCT syndrome skos:closeMatch Orphanet:57145 SUNCT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d050798 MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018930 monosomy 21 skos:exactMatch NCIT:C36469 Monosomy 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monosomy type 21 semapv:RegularExpressionReplacement MONDO:0018930 monosomy 21 skos:closeMatch Orphanet:574 Monosomy 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795875 -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ml type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type iii alpha/beta -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:577 Mucolipidosis type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252600 -MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch Orphanet:423461 Mucolipidosis type III alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta, atypical semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018931 mucolipidosis type III, alpha/beta skos:closeMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis type 3 alpha/beta semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label classic hairy cell leukemia -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023443 -MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019053 MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 -MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 +MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007943 +MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019053 +MONDO:0018935 hairy cell leukemia skos:closeMatch Orphanet:58017 Classic hairy cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023443 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004430 +MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029417 MONDO:0018936 osteoblastoma skos:closeMatch Orphanet:58040 Osteoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018215 -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84898 Mucopolysaccharidosis Type IIIB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiib -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056890 -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome a -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib -MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency +MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome b +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79270 Sanfilippo syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiib +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84898 Mucopolysaccharidosis Type IIIB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiib MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym naglu deficiency -MONDO:0018937 mucopolysaccharidosis type 3 skos:exactMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heparan sulfate sulfatase deficiency +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026706 MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:79269 Sanfilippo syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iiia +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch Orphanet:581 Mucopolysaccharidosis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056890 MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch NCIT:C84897 Mucopolysaccharidosis Type IIIA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iiia -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iva -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252900 mucopolysaccharidosis, iia 3a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym sanfilippo syndrome a +MONDO:0018937 mucopolysaccharidosis type 3 skos:closeMatch OMIM:252920 mucopolysaccharidosis, iia 3b semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym n-acetyl-alpha-d-glucosaminidase deficiency +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028095 MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309297 Mucopolysaccharidosis type 4A semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type iva MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026707 -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84902 Mucopolysaccharidosis Type IVB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type ivb +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym galactosamine-6-sulfatase deficiency +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio syndrome a +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch NCIT:C84901 Mucopolysaccharidosis Type IVA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label mucopolysaccharidosis type iva MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:309310 Mucopolysaccharidosis type 4B semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym mucopolysaccharidosis type ivb -MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch Orphanet:582 Mucopolysaccharidosis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028095 +MONDO:0018938 mucopolysaccharidosis type 4 skos:closeMatch OMIM:253000 mucopolysaccharidosis, iia 4a semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym morquio a disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751882 MONDO:0018940 congenital myasthenic syndrome skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020294 MONDO:0018941 furuncular myiasis skos:closeMatch Orphanet:591 Furuncular myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931766 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 -MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931639 +MONDO:0018942 macrophagic myofasciitis skos:closeMatch Orphanet:592 Macrophagic myofasciitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537829 MONDO:0018943 myofibrillar myopathy skos:closeMatch Orphanet:593 Myofibrillar myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2678065 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020217 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006828 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:99927 Hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym molar pregnancy -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061988 -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch NCIT:C3110 Hydatidiform Mole semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole -MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:59305 Gestational trophoblastic neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod phenotype +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 +MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch OMIM:231090 hydatidiform mole, recurrent, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod syndrome with chronic granulomatous disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch OMIM:300842 mcleod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mcleod phenotype MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch Orphanet:59306 McLeod neuroacanthocytosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 MONDO:0018946 rhombencephalosynapsis skos:closeMatch Orphanet:59315 Rhombencephalosynapsis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1866130 -MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement +MONDO:0018947 centronuclear myopathy skos:narrowMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym centronuclear myopathy semapv:RegularExpressionReplacement MONDO:0018947 centronuclear myopathy skos:closeMatch Orphanet:595 Centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175709 -MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270962 MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym multiminicore myopathy MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:255320 congenital myopathy 1b, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym multicore myopathy +MONDO:0018948 multiminicore myopathy skos:closeMatch Orphanet:598 Multiminicore myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270962 MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mmd MONDO:0018948 multiminicore myopathy skos:exactMatch OMIM:604467 MMD semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mmd MONDO:0018949 distal myopathy skos:closeMatch Orphanet:599 Distal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751336 @@ -29763,264 +29770,264 @@ MONDO:0018951 distal myopathy with vocal cord weakness skos:closeMatch Orphanet: MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003094 MONDO:0018952 argyria skos:closeMatch Orphanet:60014 Argyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001129 -MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym catlin marks +MONDO:0018953 parietal foramina skos:exactMatch OMIM:168500 parietal foramina 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym foramina parietalia permagna MONDO:0018954 Loeys-Dietz syndrome skos:closeMatch Orphanet:60030 Loeys-Dietz syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2697932 -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168198 -MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059314 +MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 +MONDO:0018955 recurrent respiratory papillomatosis skos:closeMatch Orphanet:60032 Recurrent respiratory papillomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535297 MONDO:0018956 idiopathic bronchiectasis skos:closeMatch Orphanet:60033 Idiopathic bronchiectasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339985 -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 +MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178970 MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1997249 -MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178970 +MONDO:0018957 pudendal neuralgia skos:closeMatch Orphanet:60039 Pudendal neuralgia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d060545 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206157 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 MONDO:0018958 nemaline myopathy skos:closeMatch Orphanet:607 Nemaline myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017696 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931826 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, acetazolamide-responsive -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, potassium-aggravated +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, atypical +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia, potassium-aggravated MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia permanens -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laryngospasm, severe neonatal episodic -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia, potassium-aggravated +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia, potassium-aggravated MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia fluctuans -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotonia congenita, atypical -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931826 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:612 Potassium-aggravated myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538353 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99736 Acetazolamide-responsive myotonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608390 MONDO:0018959 potassium-aggravated myotonia skos:closeMatch NCIT:C122789 Myotonia Fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia fluctuans -MONDO:0018959 potassium-aggravated myotonia skos:closeMatch Orphanet:99735 Myotonia permanens semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myotonia permanens -MONDO:0018961 familial melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018959 potassium-aggravated myotonia skos:closeMatch OMIM:608390 myotonia, potassium-aggravated semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium channel muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018961 familial melanoma skos:closeMatch Orphanet:618 Familial melanoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 +MONDO:0018961 familial melanoma skos:closeMatch Orphanet:404560 Familial atypical multiple mole melanoma syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2314896 MONDO:0018963 hereditary methemoglobinemia skos:closeMatch Orphanet:621 Hereditary methemoglobinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272087 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1567741 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 -MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009394 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88917 X-linked Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:88919 Autosomal recessive Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001843 -MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022034 +MONDO:0018965 Alport syndrome skos:closeMatch Orphanet:63 Alport syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1567741 MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152234 +MONDO:0018968 iniencephaly skos:closeMatch Orphanet:63259 Iniencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022034 MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152426 MONDO:0018969 craniorachischisis skos:closeMatch Orphanet:63260 Craniorachischisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10011321 +MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868569 MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536309 -MONDO:0018973 patterned dystrophy of the retinal pigment epithelium skos:closeMatch Orphanet:63454 Pattern dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868569 MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057056 MONDO:0018974 paraneoplastic pemphigus skos:closeMatch Orphanet:63455 Paraneoplastic pemphigus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112570 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047712 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome semapv:RegularExpressionReplacement MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027831 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538607 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:97685 17q11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:162200 neurofibromatosis, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von recklinghausen disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:638 Neurofibromatosis-Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurofibromatosis type 1 microdeletion syndrome semapv:RegularExpressionReplacement -MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162200 -MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931271 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009456 +MONDO:0018975 neurofibromatosis type 1 skos:closeMatch Orphanet:636 Neurofibromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047712 MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536633 +MONDO:0018976 schisis association skos:closeMatch Orphanet:63862 Schisis association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931271 MONDO:0018977 polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG skos:closeMatch Orphanet:639 Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1736154 -MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027074 MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536136 MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536136 +MONDO:0018978 IgG4-related mediastinitis skos:closeMatch Orphanet:63999 IgG4-related mediastinitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10027074 MONDO:0018979 multifocal motor neuropathy skos:closeMatch Orphanet:641 Multifocal motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393847 MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 MONDO:0018982 Niemann-Pick disease type C skos:closeMatch Orphanet:646 Niemann-Pick disease type C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052556 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051526 MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392060 -MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051526 MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0040381 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 +MONDO:0018983 Tolosa-Hunt syndrome skos:closeMatch Orphanet:64686 Tolosa-Hunt syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020333 MONDO:0018984 Oroya fever skos:closeMatch Orphanet:64692 Oroya fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029307 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0405469 MONDO:0018987 granulomatous mastitis skos:closeMatch Orphanet:64722 Granulomatous mastitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058890 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053678 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057129 -MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053678 MONDO:0018988 iridocorneal endothelial syndrome skos:exactMatch OMIM:146720 ichthyosis--cheek--eyebrow syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ice syndrome +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 +MONDO:0018988 iridocorneal endothelial syndrome skos:closeMatch Orphanet:64734 Iridocorneal endothelial syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1096100 MONDO:0018992 IgG4-related thyroid disease skos:closeMatch Orphanet:64744 IgG4-related thyroid disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039142 MONDO:0018993 Charcot-Marie-Tooth disease type 2 skos:closeMatch Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autosomal dominant charcot-marie-tooth disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018994 Charcot-Marie-Tooth disease type X skos:closeMatch Orphanet:64747 X-linked Charcot-Marie-Tooth disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked charcot-marie-tooth disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 skos:closeMatch Orphanet:64753 Spinocerebellar ataxia with axonal neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606002 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029748 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 +MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym noonan syndrome MONDO:0018997 Noonan syndrome skos:exactMatch OMIM:163950 noonan syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym noonan syndrome -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0028326 -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009634 -MONDO:0018997 Noonan syndrome skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029748 +MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339527 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057130 -MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339527 +MONDO:0018998 Leber congenital amaurosis skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070667 MONDO:0018999 LCAT deficiency skos:exactMatch OMIM:245900 lecithin:cholesterol acyltransferase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lcat deficiency MONDO:0019000 perineural cyst skos:exactMatch NCIT:C4797 Perineural Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perineural cyst -MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dysplastic gangliocytoma of the cerebellum +MONDO:0019002 Lhermitte-Duclos disease skos:exactMatch OMIM:158350 cowden syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lhermitte-duclos disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019002 Lhermitte-Duclos disease skos:closeMatch Orphanet:65285 Lhermitte-Duclos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0391826 MONDO:0019003 multiple endocrine neoplasia type 2 skos:closeMatch Orphanet:653 Multiple endocrine neoplasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028191 -MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027708 MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029145 +MONDO:0019004 kidney Wilms tumor skos:closeMatch Orphanet:654 Nephroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027708 MONDO:0019004 kidney Wilms tumor skos:exactMatch OMIM:194070 wilms tumor 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephroblastoma MONDO:0019005 nephronophthisis skos:closeMatch Orphanet:655 Nephronophthisis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0687120 MONDO:0019006 familial idiopathic steroid-resistant nephrotic syndrome skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868672 MONDO:0019007 vaginal atresia skos:closeMatch Orphanet:65681 Vaginal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046879 -MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch NCIT:C84402 Benign Recurrent Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis MONDO:0019008 benign recurrent intrahepatic cholestasis skos:closeMatch Orphanet:65682 Benign recurrent intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0149841 -MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch NCIT:C131425 Congenital Hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hyperinsulinism -MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0019008 benign recurrent intrahepatic cholestasis skos:exactMatch NCIT:C84402 Benign Recurrent Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label benign recurrent intrahepatic cholestasis MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:601820 hyperinsulinemic hypoglycemia, familial, 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0019010 congenital isolated hyperinsulinism skos:exactMatch OMIM:256450 hyperinsulinemic hypoglycemia, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym persistent hyperinsulinemic hypoglycemia of infancy +MONDO:0019010 congenital isolated hyperinsulinism skos:closeMatch NCIT:C131425 Congenital Hyperinsulinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hyperinsulinism MONDO:0019011 Charcot-Marie-Tooth disease type 1 skos:exactMatch OMIM:118200 charcot-marie-tooth disease, demyelinating, iia 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary motor and sensory neuropathy type 1 semapv:RegularExpressionReplacement -MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpenter syndrome MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym carpenter syndrome +MONDO:0019012 Carpenter syndrome skos:exactMatch OMIM:201000 carpenter syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym carpenter syndrome MONDO:0019012 Carpenter syndrome skos:closeMatch Orphanet:65759 Carpenter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275078 -MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795690 MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030308 +MONDO:0019015 omphalocele skos:closeMatch Orphanet:660 Omphalocele semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795690 MONDO:0019018 Tako-tsubo cardiomyopathy skos:closeMatch Orphanet:66529 Tako-Tsubo cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1739395 -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 -MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029434 MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031243 +MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 +MONDO:0019019 osteogenesis imperfecta skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010013 MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIM:603828 brittle bone disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym brittle bone disorder semapv:RegularExpressionReplacement MONDO:0019019 osteogenesis imperfecta skos:exactMatch OMIM:603828 brittle bone disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brittle bone disorder semapv:RegularExpressionReplacement -MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d034701 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:66646 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1136033 +MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:98292 Mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019023 cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:154800 MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 -MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036221 +MONDO:0019024 mast cell sarcoma skos:closeMatch Orphanet:66661 Mast cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012515 MONDO:0019025 extracutaneous mastocytoma skos:closeMatch Orphanet:66662 Extracutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272202 -MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930799 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531613 +MONDO:0019028 amoebiasis due to Entamoeba histolytica skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930799 MONDO:0019032 X-linked intellectual disability with isolated growth hormone deficiency skos:closeMatch Orphanet:67045 X-linked intellectual disability with isolated growth hormone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848068 MONDO:0019033 primary cutis verticis gyrata skos:closeMatch Orphanet:671 Primary cutis verticis gyrata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263417 MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536003 MONDO:0019034 accessory pancreas skos:closeMatch Orphanet:674 Accessory pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536003 -MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334489 MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 +MONDO:0019035 pancreatoblastoma skos:closeMatch Orphanet:677 Pancreatoblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537162 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036813 -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 -MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:240071 Classic progressive supranuclear palsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038868 +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 MONDO:0019037 progressive supranuclear palsy skos:closeMatch OMIM:601104 supranuclear palsy, progressive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym steele-richardson-olszewski syndrome +MONDO:0019037 progressive supranuclear palsy skos:closeMatch Orphanet:683 Progressive supranuclear palsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013494 MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023520 MONDO:0019046 leukodystrophy skos:closeMatch Orphanet:68356 Leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10024381 MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10060892 -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019045 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019045 MONDO:0019050 inherited hemoglobinopathy skos:narrowMatch ICD10CM:D58.2 Other hemoglobinopathies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemoglobinopathies semapv:RegularExpressionReplacement -MONDO:0019050 inherited hemoglobinopathy skos:closeMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006453 +MONDO:0019050 inherited hemoglobinopathy skos:closeMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemoglobinopathy +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058097 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rare metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008661 -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058097 MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062018 -MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rare metabolic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0025521 +MONDO:0019052 inborn errors of metabolism skos:closeMatch Orphanet:68367 Rare inborn errors of metabolism semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label rare inborn errors of metabolism MONDO:0019053 peroxisomal disease skos:closeMatch Orphanet:68373 Peroxisomal disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0282528 +MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 +MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029323 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009468 -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029323 -MONDO:0019056 neuromuscular disease skos:closeMatch Orphanet:68381 Neuromuscular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027868 MONDO:0019060 bone neoplasm skos:closeMatch Orphanet:68411 Rare bone tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare bone tumor MONDO:0019063 vascular anomaly skos:closeMatch Orphanet:68419 Vascular anomaly or angioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular anomaly or angioma MONDO:0019064 hereditary spastic paraplegia skos:closeMatch Orphanet:685 Hereditary spastic paraplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019903 -MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:exactMatch NCIT:C117187 Amyloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyloid +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002726 +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 +MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:narrowMatch ICD10WHO:E85.8 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002726 -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002022 -MONDO:0019065 amyloidosis skos:exactMatch NCIT:C117187 Amyloid semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyloid -MONDO:0019065 amyloidosis skos:closeMatch Orphanet:69 Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000686 MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement +MONDO:0019065 amyloidosis skos:narrowMatch ICD10CM:E85.89 Other amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym amyloidosis semapv:RegularExpressionReplacement MONDO:0019072 intrahepatic cholestasis skos:exactMatch NCIT:C84400 Intrahepatic Cholestasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intrahepatic cholestasis -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulonephritis with sparse hair and telangiectases -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectatic membranoproliferative glomerulonephritis MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome -MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypotrichosis-lymphedema-telangiectasia-renal defect syndrome MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch Orphanet:69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137940 +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulonephritis with sparse hair and telangiectases +MONDO:0019073 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:closeMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym telangiectatic membranoproliferative glomerulonephritis MONDO:0019075 Bosley-Salih-Alorainy syndrome skos:exactMatch OMIM:601536 athabaskan brainstem dysgenesis syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bosley-salih-alorainy syndrome -MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334063 MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068856 -MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3c syndrome +MONDO:0019077 warty dyskeratoma skos:closeMatch Orphanet:69745 Warty dyskeratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334063 +MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 +MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym craniocerebellocardiac dysplasia -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 +MONDO:0019078 Ritscher-Schinzel syndrome skos:exactMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 3c syndrome MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796137 -MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535313 +MONDO:0019078 Ritscher-Schinzel syndrome skos:closeMatch OMIM:220210 ritscher-schinzel syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dandy-walker-like malformation with atrioventricular septal defect MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263504 MONDO:0019080 alopecia totalis skos:closeMatch Orphanet:700 Alopecia totalis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001766 -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030805 -MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 +MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030805 MONDO:0019082 bullous pemphigoid skos:closeMatch NCIT:C34908 Pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid +MONDO:0019082 bullous pemphigoid skos:closeMatch Orphanet:703 Bullous pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010391 MONDO:0019084 radiation proctitis skos:closeMatch Orphanet:70475 Radiation proctitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037766 MONDO:0019085 vernal keratoconjunctivitis skos:closeMatch Orphanet:70476 Vernal keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022577 -MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal cancer -MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal cancer MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10030155 MONDO:0019086 carcinoma of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0152018 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 +MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym esophageal cancer +MONDO:0019086 carcinoma of esophagus skos:closeMatch OMIM:133239 esophageal cancer semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label esophageal cancer MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10004593 -MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008593 MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206698 -MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432487 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10008593 +MONDO:0019087 cholangiocarcinoma skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018281 MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051358 -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 +MONDO:0019088 post-transplant lymphoproliferative disease skos:closeMatch Orphanet:70568 Post-transplant lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432487 +MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006475 MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006287 MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006475 +MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch Orphanet:70589 Bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061416 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035148 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015009 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010930 MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032064 -MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035148 -MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050245 +MONDO:0019095 plague skos:closeMatch Orphanet:707 Plague semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061416 MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242584 +MONDO:0019098 autoimmune thrombocytopenia skos:closeMatch Orphanet:71203 Autoimmune thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050245 +MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029322 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027873 MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 -MONDO:0019100 neuromyelitis optica skos:closeMatch Orphanet:71211 Neuromyelitis optica spectrum disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009471 MONDO:0019101 retinal capillary malformation skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 -MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338465 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066142 +MONDO:0019104 Sandifer syndrome skos:closeMatch NCIT:C113397 Sandifer's Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandifers syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338465 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 MONDO:0019104 Sandifer syndrome skos:closeMatch Orphanet:71272 Sandifer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537234 -MONDO:0019104 Sandifer syndrome skos:closeMatch NCIT:C113397 Sandifer's Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandifers syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178770 MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 +MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3178770 MONDO:0019105 renal nutcracker syndrome skos:closeMatch Orphanet:71273 Renal nutcracker syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d059228 -MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268150 MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272052 +MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268150 MONDO:0019107 Rh deficiency syndrome skos:closeMatch Orphanet:71275 Rh deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849387 MONDO:0019107 Rh deficiency syndrome skos:closeMatch OMIM:268150 rh-null, regulator iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rh-mod MONDO:0019108 silent sinus syndrome skos:closeMatch Orphanet:71276 Silent sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3698095 @@ -30030,66 +30037,66 @@ MONDO:0019109 CANOMAD syndrome skos:closeMatch Orphanet:71279 CANOMAD syndrome s MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072376 MONDO:0019114 psychogenic movement disorders skos:closeMatch Orphanet:71519 Psychogenic movement disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267131 MONDO:0019115 obesity due to melanocortin 4 receptor deficiency skos:exactMatch OMIM:618406 body mass index quantitative trait locus 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mc4r deficiency -MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038857 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0854723 +MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038857 MONDO:0019118 inherited retinal dystrophy skos:closeMatch Orphanet:71862 Inherited retinal disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058499 -MONDO:0019121 pneumocystosis skos:exactMatch NCIT:C124358 Pneumocystis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumocystis MONDO:0019121 pneumocystosis skos:closeMatch Orphanet:723 Pneumocystosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1535939 -MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 +MONDO:0019121 pneumocystosis skos:exactMatch NCIT:C124358 Pneumocystis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pneumocystis MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055953 -MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 +MONDO:0019124 microscopic polyangiitis skos:closeMatch Orphanet:727 Microscopic polyangiitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063344 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038304 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032453 MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 -MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085655 +MONDO:0019125 relapsing polychondritis skos:closeMatch Orphanet:728 Relapsing polychondritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011081 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036102 MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 +MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017285 +MONDO:0019127 polymyositis skos:closeMatch Orphanet:732 Polymyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085655 MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label müllerian aplasia MONDO:0019128 mullerian aplasia skos:closeMatch Orphanet:73217 Müllerian aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537371 MONDO:0019134 central neurocytoma skos:closeMatch Orphanet:73256 Central neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206719 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 -MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043541 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061418 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028098 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020096 +MONDO:0019136 Zygomycosis skos:closeMatch Orphanet:73263 Zygomycosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009091 MONDO:0019141 porokeratosis of Mibelli skos:exactMatch OMIM:175800 porokeratosis 1, multiple types semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porokeratosis of mibelli MONDO:0019141 porokeratosis of Mibelli skos:closeMatch Orphanet:735 Porokeratosis of Mibelli semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0949506 +MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036181 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061356 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011164 -MONDO:0019142 inherited porphyria skos:closeMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032708 -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069517 -MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392662 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 +MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392662 +MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069517 MONDO:0019143 angiostrongyliasis skos:closeMatch Orphanet:74 Angiostrongyliasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536369 MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency skos:closeMatch Orphanet:743 Severe hereditary thrombophilia due to congenital protein S deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein s deficiency MONDO:0019145 hereditary thrombophilia due to congenital protein C deficiency skos:closeMatch Orphanet:745 Severe hereditary thrombophilia due to congenital protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe hereditary thrombophilia due to congenital protein c deficiency MONDO:0019146 inherited susceptibility to mycobacterial diseases skos:closeMatch Orphanet:748 Mendelian susceptibility to mycobacterial diseases semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3266863 +MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028586 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027030 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009198 -MONDO:0019147 myiasis skos:closeMatch Orphanet:75110 Myiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028586 -MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015223 -MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043208 MONDO:0019148 Wolman disease skos:closeMatch Orphanet:75233 Wolman disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053687 +MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019148 Wolman disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym wolman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019149 cholesteryl ester storage disease skos:closeMatch Orphanet:75234 Cholesteryl ester storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008384 MONDO:0019149 cholesteryl ester storage disease skos:exactMatch OMIM:278000 lysosomal acid lipase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cholesteryl ester storage disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 MONDO:0019152 Oguchi disease skos:closeMatch Orphanet:75382 Oguchi disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537743 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dhtr deficiency -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrotestosterone receptor deficiency -MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym androgen receptor deficiency +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ar deficiency +MONDO:0019154 androgen insensitivity syndrome skos:closeMatch OMIM:300068 androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dihydrotestosterone receptor deficiency MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013734 MONDO:0019154 androgen insensitivity syndrome skos:closeMatch Orphanet:754 Androgen insensitivity syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056292 @@ -30099,90 +30106,90 @@ MONDO:0019155 Leydig cell hypoplasia skos:closeMatch Orphanet:755 Leydig cell hy MONDO:0019155 Leydig cell hypoplasia skos:closeMatch OMIM:238320 leydig cell hypoplasia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leydig cell agenesis MONDO:0019159 Loeffler endocarditis skos:closeMatch Orphanet:75566 Loeffler endocarditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052841 MONDO:0019161 pseudohypoaldosteronism type 1 skos:closeMatch Orphanet:756 Pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268436 -MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch OMIM:114300 arthrogryposis, distal, iia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon syndrome MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:757 Pseudohypoaldosteronism type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1449844 +MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:145260 pseudohypoaldosteronism, iia 2a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon hyperkalemia-hypertension syndrome MONDO:0019162 pseudohypoaldosteronism type 2 skos:exactMatch OMIM:614495 pseudohypoaldosteronism, iia 2d semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial hyperkalemic hypertension MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch Orphanet:376 Gordon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gordon syndrome MONDO:0019165 central precocious puberty skos:exactMatch NCIT:C113217 Gonadotropin-Dependent Precocious Puberty semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gonadotropin-dependent precocious puberty MONDO:0019165 central precocious puberty skos:closeMatch Orphanet:759 Central precocious puberty semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342543 MONDO:0019167 immunoglobulin a vasculitis skos:closeMatch NCIT:C35499 Vascular Purpura semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular purpura -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704275 -MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037652 MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041188 -MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037652 +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 +MONDO:0019168 pyomyositis skos:closeMatch Orphanet:764 Pyomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052880 MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate dehydrogenase complex deficiency +MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch OMIM:312170 pyruvate dehydrogenase e1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency MONDO:0019169 pyruvate dehydrogenase deficiency skos:exactMatch Orphanet:79243 Pyruvate dehydrogenase E1-alpha deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pyruvate decarboxylase deficiency -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 -MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036024 -MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome +MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 +MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:767 Polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010488 +MONDO:0019170 polyarteritis nodosa skos:closeMatch Orphanet:439762 Systemic polyarteritis nodosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0031036 MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ward-romano syndrome -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 -MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057926 +MONDO:0019171 familial long QT syndrome skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym romano-ward syndrome MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035828 +MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057926 +MONDO:0019171 familial long QT syndrome skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1141890 MONDO:0019172 aniridia skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003076 -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 +MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034494 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037742 -MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034494 +MONDO:0019173 rabies skos:closeMatch Orphanet:770 Rabies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011818 MONDO:0019179 monosomy 9q22.3 skos:closeMatch Orphanet:77301 Monosomy 9q22.3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711390 MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039445 MONDO:0019180 hereditary hemorrhagic telangiectasia skos:closeMatch Orphanet:774 Hereditary hemorrhagic telangiectasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019883 -MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71526 Obesity due to pro-opiomelanocortin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 MONDO:0019182 inherited obesity skos:exactMatch NCIT:C120382 Monogenic Obesity semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label monogenic obesity -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034362 +MONDO:0019182 inherited obesity skos:closeMatch Orphanet:71529 Obesity due to melanocortin 4 receptor deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601665 +MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037688 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037731 +MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034362 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011778 -MONDO:0019186 Q fever skos:closeMatch Orphanet:781 Q fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037688 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 -MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495488 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535679 MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059255 -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 -MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 +MONDO:0019187 Axenfeld-Rieger syndrome skos:closeMatch Orphanet:782 Axenfeld-Rieger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3495488 MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035934 MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039281 +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 +MONDO:0019188 Rubinstein-Taybi syndrome skos:closeMatch Orphanet:783 Rubinstein-Taybi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012415 MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym broad thumb-hallux syndrome MONDO:0019188 Rubinstein-Taybi syndrome skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym rubinstein syndrome MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism skos:closeMatch Orphanet:79062 Disorder of amino acid and other organic acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of amino acid and other organic acid metabolism MONDO:0019190 juvenile polyposis of infancy skos:exactMatch OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile polyposis of infancy -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026103 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052317 MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008882 -MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026103 +MONDO:0019191 IgG4-related dacryoadenitis and sialadenitis skos:closeMatch Orphanet:79078 IgG4-related dacryoadenitis and sialadenitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10051457 MONDO:0019193 acquired generalized lipodystrophy skos:closeMatch Orphanet:79086 Acquired generalized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271693 -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary inclusion body myopathy type 3 MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch OMIM:605637 congenital myopathy 6 with ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles +MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:closeMatch Orphanet:79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary inclusion body myopathy type 3 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042742 -MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029077 MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009879 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 +MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029077 +MONDO:0019198 sympathetic ophthalmia skos:closeMatch Orphanet:79098 Sympathetic ophthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042742 MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038914 -MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268000 MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012174 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268000 +MONDO:0019200 retinitis pigmentosa skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035334 MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268446 MONDO:0019201 thyrotoxic periodic paralysis skos:closeMatch Orphanet:79102 Thyrotoxic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043788 MONDO:0019202 myxofibrosarcoma skos:closeMatch Orphanet:79105 Myxofibrosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066948 +MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066728 MONDO:0019203 acute interstitial pneumonia skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1279945 -MONDO:0019203 acute interstitial pneumonia skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome skos:closeMatch Orphanet:79127 Respiratory bronchiolitis-interstitial lung disease syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066393 MONDO:0019206 sparse hair-short stature-skin anomalies syndrome skos:exactMatch Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sparse hair-short stature-skin anomalies syndrome MONDO:0019207 DEND syndrome skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1853564 MONDO:0019208 Bickerstaff brainstem encephalitis skos:closeMatch Orphanet:79138 Bickerstaff brainstem encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1960543 -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 -MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014057 +MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014596 +MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 MONDO:0019209 Japanese encephalitis skos:closeMatch Orphanet:79139 Japanese encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004672 MONDO:0019210 cutaneous neuroendocrine carcinoma skos:closeMatch Orphanet:79140 Cutaneous neuroendocrine carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0007129 MONDO:0019214 inborn carbohydrate metabolic disorder skos:closeMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of carbohydrate metabolism @@ -30195,58 +30202,58 @@ MONDO:0019220 inborn disorder of cobalamin metabolism and transport skos:closeMa MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism skos:closeMatch Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of methionine cycle and sulfur amino acid metabolism MONDO:0019223 disorder of fatty acid and ketone body metabolism skos:closeMatch Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of fatty acid oxidation and ketone body metabolism MONDO:0019224 inborn disorder of gamma-aminobutyric acid metabolism skos:closeMatch Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of gamma-aminobutyric acid metabolism -MONDO:0019227 inborn disorder of glycerol metabolism skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of glycerol metabolism MONDO:0019227 inborn disorder of glycerol metabolism skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342762 +MONDO:0019227 inborn disorder of glycerol metabolism skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of glycerol metabolism MONDO:0019228 inborn disorder of histidine metabolism skos:closeMatch Orphanet:79181 Disorder of histidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268512 MONDO:0019230 inborn disorder of ornithine or proline metabolism skos:closeMatch Orphanet:79185 Disorder of ornithine or proline metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of ornithine or proline metabolism MONDO:0019231 inborn disorder of pentose phosphate metabolism skos:closeMatch Orphanet:79186 Disorder of pentose phosphate metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pentose phosphate metabolism MONDO:0019232 inborn disorder of peptide metabolism skos:closeMatch Orphanet:79187 Disorder of peptide metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of peptide metabolism -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peroxisome biogenesis disorder MONDO:0019234 peroxisome biogenesis disorder skos:exactMatch OMIM:601539 peroxisome biogenesis disorder 1b semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peroxisome biogenesis disorder -MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0019234 peroxisome biogenesis disorder skos:closeMatch Orphanet:79189 Peroxisome biogenesis disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536664 MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism skos:closeMatch Orphanet:79190 Disorder of phenylalanin or tyrosine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of phenylalanin or tyrosine metabolism -MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine metabolism MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061476 +MONDO:0019236 inborn disorder of purine metabolism skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine metabolism MONDO:0019237 inborn disorder of pyridoxine metabolism skos:closeMatch Orphanet:79192 Disorder of pyridoxine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyridoxine metabolism -MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070969 MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of pyrimidine metabolism MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 +MONDO:0019238 inborn disorder of pyrimidine metabolism skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10070969 MONDO:0019239 inborn disorder of serine family metabolism skos:closeMatch Orphanet:79194 Disorder of serine or glycine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of serine or glycine metabolism -MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of the gamma-glutamyl cycle MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268517 +MONDO:0019241 inborn disorder of the gamma-glutamyl cycle skos:closeMatch Orphanet:79196 Disorder of the gamma-glutamyl cycle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of the gamma-glutamyl cycle MONDO:0019242 inborn disorder of branched-chain amino acid metabolism skos:closeMatch Orphanet:79197 Disorder of branched-chain amino acid metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342712 MONDO:0019243 inborn disorder of energy metabolism skos:closeMatch Orphanet:79200 Disorder of energy metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of energy metabolism MONDO:0019246 inborn disorder of lysosomal amino acid transport skos:closeMatch Orphanet:79207 Disorder of lysosomal amino acid transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of lysosomal amino acid transport +MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009081 -MONDO:0019248 mucolipidosis skos:closeMatch Orphanet:79212 Mucolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026697 -MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement +MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10WHO:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 -MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028093 MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009083 MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026703 +MONDO:0019249 mucopolysaccharidosis skos:closeMatch Orphanet:79213 Mucopolysaccharidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028093 +MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10CM:E76.29 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement -MONDO:0019249 mucopolysaccharidosis skos:narrowMatch ICD10WHO:E76.2 Other mucopolysaccharidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mucopolysaccharidoses semapv:RegularExpressionReplacement MONDO:0019250 inborn disorder of biogenic amine metabolism and transport skos:closeMatch Orphanet:79214 Disorder of biogenic amine metabolism and transport semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of biogenic amine metabolism and transport -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 -MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of purine or pyrimidine metabolism MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011686 +MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037546 MONDO:0019254 inborn disorder of purine or pyrimidine metabolism skos:closeMatch Orphanet:79224 Disorder of purine or pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034139 -MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement -MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement -MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10WHO:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013106 MONDO:0019255 sphingolipidosis skos:closeMatch Orphanet:79225 Sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037899 +MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement +MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10WHO:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement +MONDO:0019255 sphingolipidosis skos:narrowMatch ICD10CM:E75.2 Other sphingolipidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym sphingolipidosis semapv:RegularExpressionReplacement MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 MONDO:0019257 hemochromatosis type 2 skos:closeMatch Orphanet:79230 Hemochromatosis type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537247 -MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034875 MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751434 +MONDO:0019259 classic phenylketonuria skos:closeMatch Orphanet:79254 Classic phenylketonuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034875 MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0022797 MONDO:0019260 adult neuronal ceroid lipofuscinosis skos:closeMatch Orphanet:79262 Adult neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kufs disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019261 infantile neuronal ceroid lipofuscinosis skos:exactMatch OMIM:256730 ceroid lipofuscinosis, neuronal, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym santavuori disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -30260,303 +30267,303 @@ MONDO:0019266 SAPHO syndrome skos:closeMatch Orphanet:793 SAPHO syndrome semapv: MONDO:0019266 SAPHO syndrome skos:closeMatch NCIT:C84530 Acquired Hyperostosis Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired hyperostosis syndrome MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019268 epidermal disease skos:broadMatch Orphanet:79359 Other epidermal disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym epidermal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021198 MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007057 -MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021198 MONDO:0019269 ichthyosis skos:closeMatch Orphanet:79354 Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020757 MONDO:0019270 erythrokeratoderma skos:closeMatch Orphanet:79355 Erythrokeratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015280 -MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis -MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrichosis +MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020555 MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement +MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement MONDO:0019280 hypertrichosis skos:narrowMatch ICD10WHO:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006983 -MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020555 +MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypertrichosis +MONDO:0019280 hypertrichosis skos:exactMatch NCIT:C79597 Hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypertrichosis MONDO:0019280 hypertrichosis skos:closeMatch Orphanet:79365 Rare disorder with hypertrichosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10020864 -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement -MONDO:0019280 hypertrichosis skos:narrowMatch ICD10CM:L68.8 Other hypertrichosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hypertrichosis semapv:RegularExpressionReplacement MONDO:0019281 isolated genetic hair shaft abnormality skos:closeMatch Orphanet:79366 Isolated hair shaft abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated hair shaft abnormality MONDO:0019283 nail anomaly skos:closeMatch Orphanet:79368 Nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028684 MONDO:0019284 inherited isolated nail anomaly skos:closeMatch Orphanet:79369 Isolated nail anomaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label isolated nail anomaly -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013575 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 -MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010452 MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 +MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013575 +MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch Orphanet:79373 Ectodermal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010452 MONDO:0019290 hypopigmentation of the skin skos:closeMatch Orphanet:79376 Hypopigmentation of the skin semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10040868 +MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162819 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017445 -MONDO:0019293 skin vascular disease skos:closeMatch Orphanet:79379 Skin vascular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062171 MONDO:0019296 subcutaneous tissue disorder skos:closeMatch Orphanet:79382 Subcutaneous tissue disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290008 -MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063493 +MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature aging MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 MONDO:0019303 premature aging syndrome skos:closeMatch Orphanet:79389 Premature aging semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019588 +MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017490 -MONDO:0019306 congenital non-bullous ichthyosiform erythroderma skos:closeMatch NCIT:C84805 Lamellar Ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lamellar ichthyosis +MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym junctional epidermolysis bullosa inversa MONDO:0019308 junctional epidermolysis bullosa inversa skos:exactMatch OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym jeb-i -MONDO:0019308 junctional epidermolysis bullosa inversa skos:closeMatch Orphanet:79405 Junctional epidermolysis bullosa inversa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2673609 MONDO:0019311 woolly hair nevus skos:closeMatch Orphanet:79414 Woolly hair nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343114 MONDO:0019312 Hermansky-Pudlak syndrome skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071775 MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 MONDO:0019314 cutaneous mastocytoma skos:closeMatch Orphanet:79455 Cutaneous mastocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054705 MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10012812 MONDO:0019315 diffuse cutaneous mastocytosis skos:closeMatch Orphanet:79456 Diffuse cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024901 -MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046752 MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042111 +MONDO:0019316 maculopapular cutaneous mastocytosis skos:closeMatch Orphanet:79457 Maculopapular cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046752 MONDO:0019316 maculopapular cutaneous mastocytosis skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urticaria pigmentosa MONDO:0019318 inflammatory linear verrucous epidermal nevus skos:closeMatch Orphanet:79466 Inflammatory linear verrucous epidermal nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0473574 MONDO:0019319 verrucous nevus skos:closeMatch Orphanet:79467 Verrucous nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0362030 -MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263316 MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057053 -MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058917 +MONDO:0019322 pemphigus vegetans skos:closeMatch Orphanet:79479 Pemphigus vegetans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263316 MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263312 -MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057069 +MONDO:0019323 pemphigus erythematosus skos:closeMatch Orphanet:79480 Pemphigus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058917 MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263313 +MONDO:0019324 pemphigus foliaceus skos:closeMatch Orphanet:79481 Pemphigus foliaceus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057069 MONDO:0019329 microcystic lymphatic malformation skos:closeMatch Orphanet:79490 Microcystic lymphatic malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary lymphangioma +MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 +MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017727 MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 -MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gardner syndrome MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gardner syndrome -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005736 -MONDO:0019336 Gardner syndrome skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017727 -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 -MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis +MONDO:0019336 Gardner syndrome skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gardner syndrome MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039486 -MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym boeck sarcoid -MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036202 +MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 +MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sarcoidosis +MONDO:0019338 sarcoidosis skos:exactMatch OMIM:181000 sarcoidosis, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sarcoidosis +MONDO:0019338 sarcoidosis skos:closeMatch Orphanet:797 Sarcoidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012507 +MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056894 MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535317 MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535317 -MONDO:0019339 47,XYY syndrome skos:closeMatch Orphanet:8 47,XYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056894 MONDO:0019340 scleroderma skos:closeMatch Orphanet:801 Scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039710 +MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265202 +MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nanocephalic dwarfism MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bird-headed dwarfism MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym seckel-type dwarfism -MONDO:0019342 Seckel syndrome skos:exactMatch OMIM:210600 seckel syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nanocephalic dwarfism -MONDO:0019342 Seckel syndrome skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265202 +MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609059 MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537778 -MONDO:0019344 antisynthetase syndrome skos:closeMatch Orphanet:81 Antisynthetase syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068801 -MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement +MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054178 MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017915 MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement -MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement +MONDO:0019345 shigellosis skos:narrowMatch ICD10WHO:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement -MONDO:0019345 shigellosis skos:closeMatch Orphanet:810 Shigellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054178 +MONDO:0019345 shigellosis skos:narrowMatch ICD10CM:A03.8 Other shigellosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym shigellosis semapv:RegularExpressionReplacement MONDO:0019346 sialidosis type 1 skos:exactMatch OMIM:256550 neuraminidase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipomucopolysaccharidosis MONDO:0019346 sialidosis type 1 skos:closeMatch Orphanet:812 Sialidosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023806 MONDO:0019347 peeling skin syndrome skos:exactMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym deciduous skin -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sotos syndrome +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sotos syndrome -MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral gigantism -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175695 -MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064387 MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 +MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064387 +MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175695 MONDO:0019349 Sotos syndrome skos:closeMatch Orphanet:821 Sotos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058495 -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019904 -MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037889 +MONDO:0019349 Sotos syndrome skos:exactMatch OMIM:117550 sotos syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sotos syndrome MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013103 +MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037889 +MONDO:0019350 hereditary spherocytosis skos:closeMatch Orphanet:822 Hereditary spherocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019904 MONDO:0019351 isolated spina bifida skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041524 -MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062766 +MONDO:0019353 Stargardt disease skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fundus flavimaculatus MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855465 +MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271093 +MONDO:0019353 Stargardt disease skos:closeMatch Orphanet:827 Stargardt disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062766 MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019353 Stargardt disease skos:exactMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fundus flavimaculatus -MONDO:0019353 Stargardt disease skos:closeMatch OMIM:248200 stargardt disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label stargardt disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265253 MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063402 +MONDO:0019354 Stickler syndrome skos:closeMatch Orphanet:828 Stickler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265253 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085253 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 +MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014924 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064056 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016706 -MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043195 MONDO:0019355 adult-onset Still disease skos:closeMatch Orphanet:829 Adult-onset Still disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058493 MONDO:0019357 congenital narrowing of cervical spinal canal skos:closeMatch Orphanet:831 Congenital cervical spinal stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital cervical spinal stenosis -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035793 -MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039207 -MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039137 +MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012373 +MONDO:0019359 Rocky mountain spotted fever skos:closeMatch Orphanet:83311 Rocky Mountain spotted fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035793 MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035597 +MONDO:0019360 rickettsialpox skos:closeMatch Orphanet:83312 Rickettsialpox semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039137 MONDO:0019362 epidemic louse-borne typhus skos:closeMatch Orphanet:83314 Epidemic typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014979 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012612 -MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039766 MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036472 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 +MONDO:0019365 scrub typhus skos:closeMatch Orphanet:83317 Scrub typhus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039766 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 -MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931872 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538523 MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:3166 Sialuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 -MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:834 Free sialic acid storage disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067529 +MONDO:0019366 free sialic acid storage disease skos:closeMatch Orphanet:309334 Salla disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067531 MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0555197 MONDO:0019368 florid cemento-osseous dysplasia skos:exactMatch NCIT:C173929 Focal Cemento-Osseous Dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label focal cemento-osseous dysplasia -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 -MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0458219 +MONDO:0019368 florid cemento-osseous dysplasia skos:closeMatch Orphanet:83451 Florid cemento-osseous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537063 MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064332 +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020918 +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:83452 Complex regional pain syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0458219 +MONDO:0019369 complex regional pain syndrome skos:closeMatch Orphanet:99995 Complex regional pain syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reflex sympathetic dystrophy MONDO:0019369 complex regional pain syndrome skos:closeMatch OMIM:604335 reflex sympathetic dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reflex sympathetic dystrophy -MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10WHO:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10CM:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement -MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 +MONDO:0019372 solitary bone cyst skos:narrowMatch ICD10WHO:M85.6 Other cyst of bone semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cyst of bone semapv:RegularExpressionReplacement MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064581 MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0281508 MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 +MONDO:0019373 desmoplastic small round cell tumor skos:closeMatch Orphanet:83469 Desmoplastic small round cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058405 MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606937 MONDO:0019374 CAMOS syndrome skos:closeMatch Orphanet:83472 CAMOS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847114 +MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014584 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014053 MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 -MONDO:0019378 la Crosse encephalitis skos:closeMatch Orphanet:83483 La Crosse encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004670 -MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014614 MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153064 +MONDO:0019380 western equine encephalitis skos:closeMatch Orphanet:83593 Western equine encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014614 MONDO:0019383 acute disseminated encephalomyelitis skos:closeMatch Orphanet:83597 Acute disseminated encephalomyelitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014059 MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014040 MONDO:0019384 encephalitis lethargica skos:closeMatch Orphanet:83600 Encephalitis lethargica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052369 MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hashimoto encephalitis MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis skos:closeMatch Orphanet:83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393639 MONDO:0019386 progressive rubella panencephalitis skos:closeMatch Orphanet:83616 Rubella panencephalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rubella panencephalitis -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717757 MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 -MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071573 MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d055955 -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055206 -MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 +MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071573 +MONDO:0019390 Susac syndrome skos:closeMatch Orphanet:838 Susac syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717757 +MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi anemia +MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconi anemia MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0015625 -MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fanconi anemia -MONDO:0019391 Fanconi anemia skos:exactMatch OMIM:227650 fanconi anemia, complementation group a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym fanconi anemia -MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042926 +MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055206 +MONDO:0019391 Fanconi anemia skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005199 MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406803 +MONDO:0019392 syringocystadenoma papilliferum skos:closeMatch Orphanet:840 Syringocystadenoma papilliferum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042926 MONDO:0019395 Hinman syndrome skos:exactMatch NCIT:C123206 Non-Neurogenic Neurogenic Bladder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-neurogenic neurogenic bladder -MONDO:0019399 Isaac syndrome skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement -MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751919 +MONDO:0019399 Isaac syndrome skos:closeMatch Orphanet:84142 Isaacs syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement +MONDO:0019399 Isaac syndrome skos:closeMatch OMIM:160120 episodic ataxia, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym isaacs-mertens syndrome semapv:RegularExpressionReplacement +MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043391 MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017086 -MONDO:0019402 beta thalassemia skos:closeMatch Orphanet:848 Beta-thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043391 -MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002876 -MONDO:0019404 perineurioma skos:closeMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft tissue perineurioma -MONDO:0019404 perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft tissue perineurioma +MONDO:0019403 congenital dyserythropoietic anemia skos:closeMatch Orphanet:85 Congenital dyserythropoietic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000742 MONDO:0019404 perineurioma skos:closeMatch Orphanet:85102 Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751691 +MONDO:0019404 perineurioma skos:closeMatch Orphanet:100002 Extraneural perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym soft tissue perineurioma +MONDO:0019404 perineurioma skos:closeMatch NCIT:C6912 Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label soft tissue perineurioma MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type skos:closeMatch Orphanet:85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618150 MONDO:0019408 Astley-Kendall dysplasia skos:closeMatch Orphanet:85175 Astley-Kendall dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300228 -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteoporosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, juvenile MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteoporosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteoporosis, juvenile -MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615221 +MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch OMIM:259750 osteoporosis, juvenile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteoporosis, juvenile MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259750 +MONDO:0019409 idiopathic juvenile osteoporosis skos:closeMatch Orphanet:85193 Idiopathic juvenile osteoporosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615221 MONDO:0019414 BRESEK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3502469 -MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036206 MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0155773 +MONDO:0019431 primitive portal vein thrombosis skos:closeMatch Orphanet:854 Primitive portal vein thrombosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036206 MONDO:0019433 oligoarticular juvenile idiopathic arthritis skos:closeMatch Orphanet:85410 Oligoarticular juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931171 MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:exactMatch NCIT:C61278 Still Disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label still disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019434 systemic-onset juvenile idiopathic arthritis skos:closeMatch NCIT:C119031 Systemic Juvenile Idiopathic Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label systemic juvenile idiopathic arthritis MONDO:0019437 enthesitis-related juvenile idiopathic arthritis skos:closeMatch NCIT:C119024 Enthesitis-Related Arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enthesitis-related arthritis +MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036673 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268381 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:85443 AL amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c531616 MONDO:0019438 AL amyloidosis skos:exactMatch OMIM:254500 myeloma, multiple semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis -MONDO:0019438 AL amyloidosis skos:closeMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis -MONDO:0019438 AL amyloidosis skos:exactMatch NCIT:C3819 Primary Amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary amyloidosis MONDO:0019438 AL amyloidosis skos:closeMatch Orphanet:314701 Primary systemic amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis +MONDO:0019438 AL amyloidosis skos:closeMatch NCIT:C8299 Primary Systemic Amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary systemic amyloidosis MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039811 MONDO:0019439 AA amyloidosis skos:closeMatch Orphanet:85445 AA amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221014 MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014235 MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014235 MONDO:0019444 trichinellosis skos:closeMatch Orphanet:863 Trichinellosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044608 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536553 +MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334262 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536553 MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044611 -MONDO:0019445 trichofolliculoma skos:closeMatch Orphanet:864 Trichofolliculoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334262 +MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:86795 Localized lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:402007 Lichen myxedematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0019446 localized lichen myxedematosus skos:closeMatch Orphanet:167635 Scleromyxedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263390 -MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023481 MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 +MONDO:0019451 chronic neutrophilic leukemia skos:closeMatch Orphanet:86829 Chronic neutrophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015467 MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796466 MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia skos:closeMatch Orphanet:86836 Refractory cytopenia with multilineage dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067959 -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 -MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038270 MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 -MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334674 +MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:86839 Refractory anemia with excess blasts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000754 +MONDO:0019454 myelodysplastic syndrome with excess blasts skos:closeMatch Orphanet:168960 Refractory anemia with excess blasts in transformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002894 MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000879 -MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292773 +MONDO:0019455 acute panmyelosis with myelofibrosis skos:closeMatch Orphanet:86843 Acute panmyelosis with myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334674 MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myeloid leukaemia with myelodysplasia-related features +MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292773 +MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015471 -MONDO:0019458 acute basophilic leukemia skos:closeMatch Orphanet:86849 Acute basophilic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023437 -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301357 -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia -MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch NCIT:C82179 Mixed Phenotype Acute Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mixed phenotype acute leukemia +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1301357 +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 +MONDO:0019460 acute leukemia of ambiguous lineage skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0475801 MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 MONDO:0019461 B-cell prolymphocytic leukemia skos:closeMatch Orphanet:86852 B-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054403 -MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062113 MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349632 -MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018852 +MONDO:0019462 splenic marginal zone lymphoma skos:closeMatch Orphanet:86854 Splenic marginal zone lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062113 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019350 +MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018852 MONDO:0019464 heavy chain disease skos:closeMatch Orphanet:86864 Heavy chain disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006362 MONDO:0019465 nodal marginal zone B-cell lymphoma skos:closeMatch Orphanet:86867 Nodal marginal zone B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029460 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025325 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024307 +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025325 MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch Orphanet:86869 Lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008230 -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363142 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 -MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023494 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015461 MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042985 +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023494 +MONDO:0019468 T-cell prolymphocytic leukemia skos:closeMatch Orphanet:86871 T-cell prolymphocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2363142 MONDO:0019468 T-cell prolymphocytic leukemia skos:exactMatch NCIT:C70649 T-Cell Chronic Lymphocytic Leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label t-cell chronic lymphocytic leukemia -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955861 +MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label large granular lymphocyte leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065862 +MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86872 T-cell large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1955861 MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1522378 -MONDO:0019469 T-cell large granular lymphocyte leukemia skos:closeMatch Orphanet:512034 Large granular lymphocyte leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label large granular lymphocyte leukemia -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028811 -MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292777 MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1522378 +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292777 +MONDO:0019470 aggressive NK-cell leukemia skos:closeMatch Orphanet:86873 Aggressive NK-cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028811 MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10001413 MONDO:0019471 adult T-cell leukemia/lymphoma skos:closeMatch Orphanet:86875 Adult T-cell leukemia/lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023493 -MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392788 MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065855 -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022703 -MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0456889 +MONDO:0019472 extranodal nasal NK/T cell lymphoma skos:closeMatch Orphanet:86879 Extranodal nasal NK/T cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392788 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 MONDO:0019473 enteropathy-associated T-cell lymphoma skos:exactMatch NCIT:C150495 Intestinal T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal t-cell lymphoma -MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333984 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058527 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0456889 +MONDO:0019473 enteropathy-associated T-cell lymphoma skos:closeMatch Orphanet:86880 Enteropathy-associated T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022703 MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066957 -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphoma, subcutaneous panniculitis-like +MONDO:0019474 hepatosplenic T-cell lymphoma skos:closeMatch Orphanet:86882 Hepatosplenic T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1333984 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphoma, subcutaneous panniculitis-like -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618398 -MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphoma, subcutaneous panniculitis-like MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537503 -MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034623 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0522624 +MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma skos:closeMatch Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618398 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 +MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034623 MONDO:0019476 primary cutaneous peripheral T-cell lymphoma not otherwise specified skos:closeMatch Orphanet:86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d016411 MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334663 MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054747 @@ -30564,203 +30571,203 @@ MONDO:0019479 histiocytic sarcoma skos:closeMatch Orphanet:86896 Histiocytic sar MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054752 MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054752 MONDO:0019480 Langerhans cell sarcoma skos:closeMatch Orphanet:86897 Langerhans cell sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1260327 -MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary bundle branch defect MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial progressive cardiac conduction defect -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003650 -MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206754 +MONDO:0019490 progressive familial heart block skos:closeMatch Orphanet:871 Familial progressive cardiac conduction defect semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hereditary bundle branch defect MONDO:0019496 neuroendocrine neoplasm skos:exactMatch NCIT:C188218 Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuroendocrine tumor -MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-syndromic genetic deafness +MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206754 +MONDO:0019496 neuroendocrine neoplasm skos:closeMatch Orphanet:877 Neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003650 MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym isolated genetic deafness -MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 +MONDO:0019497 nonsyndromic genetic hearing loss skos:closeMatch Orphanet:87884 Non-syndromic genetic deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-syndromic genetic deafness MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0277356 MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 -MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 +MONDO:0019498 tungiasis skos:closeMatch Orphanet:879 Tungiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058285 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 +MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045181 MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:881 Turner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014424 -MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C34434 Bonnevie-Ullrich Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bonnevie-ullrich syndrome -MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x MONDO:0019499 Turner syndrome skos:closeMatch Orphanet:99226 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0041408 +MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C34434 Bonnevie-Ullrich Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bonnevie-ullrich syndrome +MONDO:0019499 Turner syndrome skos:closeMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label monosomy x MONDO:0019499 Turner syndrome skos:exactMatch NCIT:C85210 XO Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label xo syndrome -MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043276 MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 +MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043276 MONDO:0019500 extragonadal teratoma skos:closeMatch Orphanet:883 Extragonadal teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013724 +MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa-deafness syndrome +MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 -MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 +MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271097 +MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063396 MONDO:0019501 Usher syndrome skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052245 -MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa-deafness syndrome -MONDO:0019501 Usher syndrome skos:closeMatch OMIM:500004 retinitis pigmentosa-deafness syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa-deafness syndrome MONDO:0019503 anterior segment dysgenesis skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior segment ocular dysgenesis MONDO:0019503 anterior segment dysgenesis skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym anterior segment mesenchymal dysgenesis MONDO:0019504 superior limbic keratoconjunctivitis skos:closeMatch Orphanet:88633 Superior limbic keratoconjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0339229 MONDO:0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 4h syndrome MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 MONDO:0019507 amelogenesis imperfecta skos:closeMatch Orphanet:88661 Amelogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000567 -MONDO:0019508 van der Woude syndrome skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604547 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536528 MONDO:0019508 van der Woude syndrome skos:closeMatch Orphanet:888 Van der Woude syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0175697 +MONDO:0019508 van der Woude syndrome skos:exactMatch OMIM:119300 van der woude syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lip-pit syndrome MONDO:0019512 congenital heart malformation skos:closeMatch Orphanet:88991 Rare congenital non-syndromic heart malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare congenital non-syndromic heart malformation -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019156 +MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047216 +MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019156 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch NCIT:C8301 Veno-Occlusive Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label veno-occlusive disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019514 hepatic veno-occlusive disease skos:closeMatch Orphanet:890 Hepatic veno-occlusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006504 MONDO:0019516 exudative vitreoretinopathy skos:exactMatch OMIM:133780 exudative vitreoretinopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym criswick-schepens syndrome MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536463 MONDO:0019517 Waardenburg syndrome type 2 skos:closeMatch Orphanet:895 Waardenburg syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2700265 -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shah-waardenburg syndrome -MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg-shah syndrome MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym waardenburg-shah syndrome -MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265496 +MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym waardenburg-shah syndrome +MONDO:0019518 Waardenburg-Shah syndrome skos:exactMatch OMIM:277580 waardenburg syndrome, iia 4a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym shah-waardenburg syndrome MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 +MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265496 MONDO:0019525 tetrasomy X skos:closeMatch Orphanet:9 Tetrasomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536502 MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263398 -MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535509 +MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056968 +MONDO:0019526 erythema elevatum diutinum skos:closeMatch Orphanet:90000 Erythema elevatum diutinum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263398 MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0409999 MONDO:0019527 undifferentiated connective tissue syndrome skos:closeMatch Orphanet:90002 Undifferentiated connective tissue syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071575 -MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 -MONDO:0019530 non-syndromic syndactyly skos:closeMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019530 non-syndromic syndactyly skos:closeMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chromosome type 2q35 duplication syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019530 non-syndromic syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 +MONDO:0019530 non-syndromic syndactyly skos:closeMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndactyly MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618660 MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch Orphanet:90030 Hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 hemolytic anemia due to glutathione reductase deficiency skos:closeMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hemolytic anemia due to glutathione reductase deficiency -MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warm antibody autoimmune hemolytic anemia MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047822 MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch Orphanet:90033 Autoimmune hemolytic anemia, warm type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272118 +MONDO:0019532 autoimmune hemolytic anemia, warm type skos:closeMatch NCIT:C162611 Warm Antibody Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warm antibody autoimmune hemolytic anemia MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10055019 MONDO:0019537 hemoglobin D disease skos:closeMatch Orphanet:90039 Hemoglobin D disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272080 -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome -MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042217 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053885 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0541719 +MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gaisböck syndrome +MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042217 MONDO:0019538 Gaisbock syndrome skos:closeMatch Orphanet:90041 Gaisböck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2242785 -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 -MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000804 MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017114 +MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000804 +MONDO:0019542 acute liver failure skos:closeMatch Orphanet:90062 Acute liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162557 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 -MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343101 MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536693 -MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393807 +MONDO:0019547 Wells syndrome skos:closeMatch Orphanet:901 Wells syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343101 MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:exactMatch OMIM:601152 neuropathy, hereditary motor and sensory, iia via, with optic atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym peripheral neuropathy and optic atrophy +MONDO:0019551 hereditary motor and sensory neuropathy type 6 skos:closeMatch Orphanet:90120 Hereditary motor and sensory neuropathy type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393807 MONDO:0019555 panniculitis and localized lipodystrophy skos:closeMatch Orphanet:90159 Panniculitis-induced localized lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panniculitis-induced localized lipodystrophy MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024145 MONDO:0019557 chilblain lupus skos:closeMatch Orphanet:90280 Chilblain lupus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025141 +MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024138 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10013072 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008179 -MONDO:0019558 discoid lupus erythematosus skos:closeMatch Orphanet:90281 Discoid lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024138 MONDO:0019560 lupus erythematosus tumidus skos:closeMatch Orphanet:90283 Lupus erythematosus tumidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406636 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030327 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 MONDO:0019561 lupus erythematosus panniculitis skos:closeMatch Orphanet:90285 Lupus erythematosus panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015435 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 -MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039712 MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036420 +MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039712 +MONDO:0019562 localized scleroderma skos:closeMatch Orphanet:90289 Localized scleroderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012594 MONDO:0019563 CREST syndrome skos:exactMatch OMIM:181750 scleroderma, familial progressive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym crest syndrome -MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym limited cutaneous systemic scleroderma +MONDO:0019563 CREST syndrome skos:exactMatch Orphanet:220402 Limited cutaneous systemic sclerosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label limited cutaneous systemic sclerosis MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042974 MONDO:0019565 hereditary von Willebrand disease skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047715 MONDO:0019567 Ehlers-Danlos syndrome, classic type, 1 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130000 -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch NCIT:C125697 Ehlers-Danlos Syndrome, Type II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, type ii -MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch Orphanet:287 Classical Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch NCIT:C135725 Cockayne Syndrome Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cockayne syndrome type a -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mitis type, formerly +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers danlos syndrome, mild classic type, formerly +MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds ii, formerly MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751039 MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 +MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch NCIT:C135725 Cockayne Syndrome Type A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cockayne syndrome type a MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751038 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90324 Cockayne syndrome type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90322 Cockayne syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:90321 Cockayne syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 +MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch Orphanet:191 Cockayne syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 MONDO:0019571 autosomal dominant cutis laxa skos:closeMatch Orphanet:90348 Autosomal dominant cutis laxa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268350 -MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043192 MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263402 +MONDO:0019576 telangiectasia macularis eruptiva perstans skos:closeMatch Orphanet:90389 Telangiectasia macularis eruptiva perstans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043192 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1862840 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 MONDO:0019577 anonychia-onychodystrophy syndrome skos:closeMatch Orphanet:90390 Anonychia-onychodystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536378 MONDO:0019581 acral persistent papular mucinosis skos:closeMatch Orphanet:90396 Acral persistent papular mucinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406660 -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory deafness type dfn -MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked non-syndromic sensorineural deafness type dfn MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated neurosensory deafness type dfn MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked isolated sensorineural deafness type dfn -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural deafness type dfna -MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory deafness type dfna +MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label x-linked non-syndromic sensorineural deafness type dfn +MONDO:0019586 X-linked nonsyndromic hearing loss skos:closeMatch Orphanet:90625 X-linked non-syndromic sensorineural deafness type DFN semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym x-linked non-syndromic neurosensory deafness type dfn MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal dominant non-syndromic sensorineural deafness type dfna +MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant non-syndromic neurosensory deafness type dfna MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated neurosensory deafness type dfna +MONDO:0019587 autosomal dominant nonsyndromic hearing loss skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal dominant isolated sensorineural deafness type dfna MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607197 -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive non-syndromic sensorineural deafness type dfnb MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated neurosensory deafness type dfnb +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive non-syndromic neurosensory deafness type dfnb -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated sensorineural deafness type dfnb MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:603324 GJB3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive -MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch OMIM:607197 deafness, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label autosomal recessive non-syndromic sensorineural deafness type dfnb +MONDO:0019588 hearing loss, autosomal recessive skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive isolated sensorineural deafness type dfnb MONDO:0019591 panhypopituitarism skos:exactMatch OMIM:262600 pituitary hormone deficiency, combined, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym panhypopituitarism -MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242343 MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10033662 +MONDO:0019591 panhypopituitarism skos:closeMatch Orphanet:90695 Non-acquired panhypopituitarism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242343 +MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048220 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043346 -MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048220 MONDO:0019600 xeroderma pigmentosum skos:closeMatch Orphanet:910 Xeroderma pigmentosum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014983 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 -MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043459 MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015211 +MONDO:0019609 Zellweger spectrum disorders skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043459 MONDO:0019609 Zellweger spectrum disorders skos:exactMatch OMIM:214100 peroxisome biogenesis disorder 1a (zellweger) semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebrohepatorenal syndrome +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017852 +MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015408 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043515 MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015043 -MONDO:0019610 Zollinger-Ellison syndrome skos:closeMatch Orphanet:913 Zollinger-Ellison syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gastrinoma MONDO:0019611 TSH-secreting pituitary adenoma skos:closeMatch Orphanet:91347 TSH-secreting pituitary adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346303 MONDO:0019612 functioning gonadotropic adenoma skos:closeMatch Orphanet:91348 Functioning gonadotropic adenoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0346304 -MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036297 MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0242342 +MONDO:0019618 Sheehan syndrome skos:closeMatch Orphanet:91355 Sheehan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036297 MONDO:0019622 non-specific interstitial pneumonia skos:closeMatch Orphanet:91364 Non-specific interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1290344 MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10019860 MONDO:0019623 hereditary angioedema skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019243 MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 -MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538173 +MONDO:0019624 acquired angioedema skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931758 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0392775 MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystic medial necrosis of aorta MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia +MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial aortic dissection MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia -MONDO:0019625 familial thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial aortic dissection MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0019626 isolated ankyloblepharon filiforme adnatum skos:closeMatch Orphanet:91397 Isolated ankyloblepharon filiforme adnatum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1302999 MONDO:0019628 Rieger anomaly skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059198 MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 MONDO:0019631 persistent hyperplastic primary vitreous skos:closeMatch Orphanet:91495 Persistent hyperplastic primary vitreous semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054514 -MONDO:0019632 Lyme disease skos:exactMatch NCIT:C86206 Borrelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label borrelia -MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024198 MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10025169 +MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024198 MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 MONDO:0019632 Lyme disease skos:closeMatch Orphanet:91546 Lyme disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008193 +MONDO:0019632 Lyme disease skos:exactMatch NCIT:C86206 Borrelia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label borrelia MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038300 +MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035021 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d012061 -MONDO:0019633 relapsing fever skos:closeMatch Orphanet:91547 Relapsing fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035021 MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0859976 MONDO:0019635 idiopathic achalasia skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036669 MONDO:0019636 renal agenesis, unilateral skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266294 @@ -30775,51 +30782,51 @@ MONDO:0019648 achondrogenesis skos:closeMatch Orphanet:932 Achondrogenesis semap MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016064 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 MONDO:0019665 monostotic fibrous dysplasia skos:closeMatch Orphanet:93277 Monostotic fibrous dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005358 -MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612847 MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch OMIM:612847 brachyolmia iia 4 with mild epiphyseal and metaphyseal changes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylodysplasia and premature pubarche -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 -MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 +MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type skos:closeMatch Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612847 MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058902 +MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1142432 +MONDO:0019668 adenoma of pancreas skos:closeMatch Orphanet:93292 Adenoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538110 MONDO:0019669 hypochondrogenesis skos:exactMatch OMIM:200610 achondrogenesis, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypochondrogenesis MONDO:0019673 postaxial polydactyly type A skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3887487 MONDO:0019674 postaxial polydactyly type B skos:closeMatch Orphanet:93335 Postaxial polydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868120 -MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, beighton type MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity type 1 +MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia with joint laxity, beighton type MONDO:0019676 brachydactyly type B skos:closeMatch Orphanet:93383 Brachydactyly type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300267 MONDO:0019691 short rib dysplasia skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliopathies with major skeletal involvement -MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromesomelic dwarfism MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:93437 Acromesomelic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535658 +MONDO:0019696 acromesomelic dysplasia skos:closeMatch Orphanet:968 Acromesomelic dysplasia, Hunter-Thompson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromesomelic dwarfism MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label campomelic dysplasia and related disorders MONDO:0019698 bent bone dysplasia skos:closeMatch Orphanet:93439 Campomelic dysplasia and related disorders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432238 MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002806 -MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008445 MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d002806 +MONDO:0019701 chondrodysplasia punctata skos:closeMatch Orphanet:93442 Chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008445 MONDO:0019702 neonatal osteosclerotic dysplasia skos:closeMatch Orphanet:93443 Neonatal osteosclerotic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1300205 MONDO:0019719 congenital anomaly of kidney and urinary tract skos:closeMatch Orphanet:93545 Renal or urinary tract malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1968949 MONDO:0019730 light chain deposition disease skos:closeMatch Orphanet:93558 Light chain deposition disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238239 -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068240 -MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymyalgia rheumatica -MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1527406 MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym polymyalgia rheumatica +MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068240 +MONDO:0019735 polymyalgia rheumatica skos:closeMatch Orphanet:93569 Polymyalgia rheumatica semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032533 +MONDO:0019735 polymyalgia rheumatica skos:exactMatch OMIM:187360 temporal arteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym polymyalgia rheumatica MONDO:0019736 dense deposit disease skos:closeMatch Orphanet:93571 Dense deposit disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268743 +MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043645 +MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717961 MONDO:0019737 thrombotic microangiopathy skos:narrowMatch ICD10CM:M31.19 Other thrombotic microangiopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym thrombotic microangiopathy semapv:RegularExpressionReplacement MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d057049 -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10043645 -MONDO:0019737 thrombotic microangiopathy skos:closeMatch Orphanet:93573 Thrombotic microangiopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2717961 -MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2584778 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536901 +MONDO:0019740 acquired thrombotic thrombocytopenic purpura skos:closeMatch Orphanet:93585 Immune-mediated thrombotic thrombocytopenic purpura semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2584778 MONDO:0019746 cystinuria type B skos:closeMatch Orphanet:93613 Cystinuria type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857389 -MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072220 MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3267073 +MONDO:0019751 autoinflammatory syndrome skos:closeMatch Orphanet:93665 Autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072220 MONDO:0019753 localized Castleman disease skos:closeMatch Orphanet:93685 Unicentric Castleman disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label unicentric castleman disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019755 developmental defect during embryogenesis skos:exactMatch Orphanet:377789 Malformation syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malformation syndrome -MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015088 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 +MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10015088 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014588 MONDO:0019759 epispadias skos:closeMatch Orphanet:93928 Isolated epispadias semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004842 MONDO:0019760 terminal transverse defects of arm skos:exactMatch OMIM:217100 constricting bands, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym terminal transverse defects of arm @@ -30828,34 +30835,34 @@ MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orph MONDO:0019772 blepharospasm-oromandibular dystonia syndrome skos:closeMatch Orphanet:90186 Meige disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008538 MONDO:0019773 myelomeningocele skos:exactMatch NCIT:C101201 Myelomeningocele semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelomeningocele MONDO:0019780 anotia skos:closeMatch Orphanet:93976 Anotia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002654 +MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytoma MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001254 -MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym astrocytoma MONDO:0019781 astrocytoma (excluding glioblastoma) skos:exactMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label astrocytoma MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015355 -MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062891 MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017609 +MONDO:0019783 neovascular glaucoma skos:closeMatch Orphanet:94058 Neovascular glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062891 MONDO:0019787 autoimmune enteropathy skos:closeMatch Orphanet:94075 Severe immune-mediated enteropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0341305 MONDO:0019788 non-secreting paraganglioma skos:closeMatch Orphanet:94080 Non-functioning paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-functioning paraganglioma MONDO:0019789 cytophagic histiocytic panniculitis skos:closeMatch Orphanet:94087 Cytophagic histiocytic panniculitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406594 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 +MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027849 MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029282 -MONDO:0019790 neuroleptic malignant syndrome skos:closeMatch Orphanet:94093 Neuroleptic malignant syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009459 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930936 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 -MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym primary acalvaria -MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535570 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 +MONDO:0019795 acalvaria skos:closeMatch Orphanet:945 Acalvaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009436 MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0220659 -MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 +MONDO:0019797 acrodysostosis skos:closeMatch Orphanet:950 Acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538179 MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162569 MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 +MONDO:0019799 hepatoerythropoietic porphyria skos:closeMatch Orphanet:95159 Hepatoerythropoietic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017121 MONDO:0019801 acute adrenal insufficiency skos:closeMatch Orphanet:95409 Acute adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151467 MONDO:0019804 tracheomalacia skos:closeMatch Orphanet:95430 Congenital tracheomalacia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010654 MONDO:0019805 twin to twin transfusion syndrome skos:closeMatch Orphanet:95431 Twin to twin transfusion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058328 @@ -30863,32 +30870,32 @@ MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018888 MONDO:0019806 primary progressive aphasia skos:closeMatch Orphanet:95432 Primary progressive aphasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018888 MONDO:0019808 aortic valve atresia skos:closeMatch Orphanet:95448 Congenital aortic valve atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066801 -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis spectrum -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 -MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044223 MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lyell syndrome MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label stevens-johnson syndrome/toxic epidermal necrolysis spectrum +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044223 +MONDO:0019810 toxic epidermal necrolysis skos:closeMatch Orphanet:95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014518 MONDO:0019810 toxic epidermal necrolysis skos:exactMatch Orphanet:537 Toxic epidermal necrolysis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label toxic epidermal necrolysis MONDO:0019813 congenital tricuspid stenosis skos:closeMatch Orphanet:95459 Congenital tricuspid stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10010656 MONDO:0019851 acquired primary ovarian failure skos:closeMatch Orphanet:95709 Acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired premature ovarian failure MONDO:0019852 inherited primary ovarian failure skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-acquired premature ovarian failure -MONDO:0019861 thyroid hypoplasia skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid hypoplasia MONDO:0019861 thyroid hypoplasia skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065938 +MONDO:0019861 thyroid hypoplasia skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid hypoplasia +MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023569 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071015 MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 -MONDO:0019862 levocardia skos:closeMatch Orphanet:95854 Levocardia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007979 -MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 8 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537940 +MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019867 mosaic trisomy 8 skos:closeMatch Orphanet:96061 Mosaic trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10053916 MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536796 MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 22 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536796 -MONDO:0019871 distal trisomy 2p skos:exactMatch NCIT:C185241 Distal Trisomy 2p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal trisomy type 2p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019869 mosaic trisomy 22 skos:closeMatch Orphanet:96068 Mosaic trisomy 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 22 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019871 distal trisomy 2p skos:exactMatch NCIT:C185241 Distal Trisomy 2p semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal trisomy type 2p semapv:RegularExpressionReplacement +MONDO:0019871 distal trisomy 2p skos:exactMatch NCIT:C185241 Distal Trisomy 2p semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label distal trisomy type 2p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal trisomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538087 MONDO:0019884 distal trisomy 10q skos:closeMatch Orphanet:96102 Distal trisomy 10q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538087 MONDO:0019885 distal trisomy 11q skos:closeMatch Orphanet:96103 Distal trisomy 11q semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538294 @@ -30898,44 +30905,44 @@ MONDO:0019891 monosomy 22 skos:exactMatch NCIT:C36461 Monosomy 22 semapv:Lexical MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion skos:exactMatch OMIM:610253 kleefstra syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 9q subtelomeric deletion syndrome MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019903 ring chromosome 2 skos:closeMatch Orphanet:96171 Ring chromosome 2 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 2 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 3 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 +MONDO:0019904 ring chromosome 3 skos:closeMatch Orphanet:96172 Ring chromosome 3 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 9 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 11 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019905 ring chromosome 9 skos:closeMatch Orphanet:96173 Ring chromosome 9 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538022 MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265444 -MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 11 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019906 ring chromosome 11 skos:closeMatch Orphanet:96175 Ring chromosome 11 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 +MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538303 MONDO:0019907 ring chromosome 13 skos:closeMatch Orphanet:96176 Ring chromosome 13 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019907 ring chromosome 13 skos:closeMatch NCIT:C179703 Ring Chromosome 13 Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 13 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538035 +MONDO:0019908 ring chromosome 15 skos:closeMatch Orphanet:96177 Ring chromosome 15 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 15 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ring type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019909 ring chromosome 16 skos:closeMatch Orphanet:96178 Ring chromosome 16 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ring chromosome type 16 syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mulchandani-bhoj-conlin syndrome MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mulchandani-bhoj-conlin syndrome -MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617352 MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uniparental disomy, maternal, chromosome type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0019917 maternal uniparental disomy of chromosome 20 skos:closeMatch Orphanet:96186 Maternal uniparental disomy of chromosome 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617352 MONDO:0019927 growth hormone-producing pituitary gland neoplasm skos:exactMatch Orphanet:96256 Somatotropic adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym somatotropinoma -MONDO:0019928 48,XXXY syndrome skos:closeMatch NCIT:C89799 XXXY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxxy syndrome MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265498 MONDO:0019928 48,XXXY syndrome skos:closeMatch Orphanet:96263 48,XXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10048228 +MONDO:0019928 48,XXXY syndrome skos:closeMatch NCIT:C89799 XXXY Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xxxy syndrome MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 -MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265499 MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:10 48,XXYY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007713 +MONDO:0019929 49,XXXXY syndrome skos:closeMatch Orphanet:96264 49,XXXXY syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265499 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0001206 -MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10000599 +MONDO:0019933 acromegaly skos:closeMatch Orphanet:963 Acromegaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000172 MONDO:0019933 acromegaly skos:closeMatch NCIT:C112834 Growth Hormone Excess semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label growth hormone excess -MONDO:0019934 polyploidy skos:exactMatch NCIT:C3338 Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 MONDO:0019934 polyploidy skos:closeMatch Orphanet:96321 Polyploidy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011123 +MONDO:0019934 polyploidy skos:exactMatch NCIT:C3338 Polyploidy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label polyploidy MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:96346 Anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic anorectal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537771 @@ -30943,8 +30950,8 @@ MONDO:0019938 anorectal malformation skos:closeMatch Orphanet:557 Non-syndromic MONDO:0019943 hereditary continuous muscle fiber activity skos:closeMatch Orphanet:972 Hereditary continuous muscle fiber activity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834559 MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058554 MONDO:0019944 Eisenmenger syndrome skos:closeMatch Orphanet:97214 Eisenmenger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013743 -MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041307 MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0263610 +MONDO:0019945 solar urticaria skos:closeMatch Orphanet:97230 Solar urticaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10041307 MONDO:0019946 ligneous conjunctivitis skos:exactMatch OMIM:217090 plasminogen deficiency, iia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ligneous conjunctivitis MONDO:0019947 rippling muscle disease 2 skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606072 MONDO:0019947 rippling muscle disease 2 skos:closeMatch NCIT:C148318 Limb-Girdle Muscular Dystrophy Type 1C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label limb-girdle muscular dystrophy type 1c @@ -30953,63 +30960,63 @@ MONDO:0019950 congenital muscular dystrophy skos:closeMatch Orphanet:97242 Conge MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 MONDO:0019951 rigid spine syndrome skos:closeMatch Orphanet:97244 Rigid spine syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535683 MONDO:0019951 rigid spine syndrome skos:exactMatch OMIM:602771 congenital myopathy 3 with rigid spine semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rigid spine syndrome -MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement -MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement MONDO:0019952 congenital myopathy skos:closeMatch Orphanet:97245 Congenital myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10062547 +MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement +MONDO:0019952 congenital myopathy skos:narrowMatch ICD10CM:G71.29 Other congenital myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym congenital myopathy semapv:RegularExpressionReplacement MONDO:0019954 pancreatic neuroendocrine tumor skos:closeMatch Orphanet:97253 Neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuroendocrine tumor of pancreas -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014038 -MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014581 MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018404 -MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017689 +MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004660 +MONDO:0019956 encephalitis skos:closeMatch Orphanet:97275 Encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014581 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 +MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017689 MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005935 -MONDO:0019960 VIPoma skos:closeMatch NCIT:C3488 WDHA Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wdha syndrome -MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic vipoma +MONDO:0019959 glucagonoma skos:closeMatch Orphanet:97280 Glucagonoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018404 MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047430 MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d003969 MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wdha syndrome -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047430 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011993 -MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cholera +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym watery diarrhea-hypokalemia-achlorhydria syndrome +MONDO:0019960 VIPoma skos:closeMatch Orphanet:97282 VIPoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0011993 +MONDO:0019960 VIPoma skos:closeMatch NCIT:C95599 Pancreatic Vipoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic vipoma +MONDO:0019960 VIPoma skos:closeMatch NCIT:C3488 WDHA Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wdha syndrome MONDO:0019963 bronchial endocrine tumor skos:closeMatch Orphanet:97287 Bronchial neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bronchial neuroendocrine tumor MONDO:0019967 Kienbock disease skos:closeMatch Orphanet:97332 Kienbock disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064242 MONDO:0019970 Sinding-Larsen-Johansson disease skos:closeMatch Orphanet:97337 Sinding-Larsen-Johansson disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10063585 MONDO:0019971 melanoma of soft tissue skos:closeMatch Orphanet:97338 Melanoma of soft tissue semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206651 -MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030783 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10029400 MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010383 -MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal face syndrome -MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities -MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0019975 pellagra skos:closeMatch Orphanet:97352 Pellagra semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0030783 MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fetal face syndrome MONDO:0019978 Robinow syndrome skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0019978 Robinow syndrome skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities MONDO:0019990 non-amyloid fibrillary glomerulopathy skos:closeMatch NCIT:C96182 Fibrillary Glomerulonephritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrillary glomerulonephritis -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 -MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037126 +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011547 +MONDO:0019992 pseudohypoparathyroidism skos:closeMatch Orphanet:97593 Pseudohypoparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0033806 MONDO:0020010 infectious disorder of the nervous system skos:closeMatch Orphanet:98010 Infectious disease of the nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0597039 -MONDO:0020040 46,XY disorder of sex development skos:closeMatch NCIT:C86031 XY Female semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xy female +MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751824 MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058490 -MONDO:0020040 46,XY disorder of sex development skos:closeMatch Orphanet:98085 46,XY disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751824 -MONDO:0020066 Ehlers-Danlos syndrome skos:narrowMatch ICD10CM:Q79.69 Other Ehlers-Danlos syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ehlers-danlos syndromes semapv:RegularExpressionReplacement -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014316 -MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013720 +MONDO:0020040 46,XY disorder of sex development skos:closeMatch NCIT:C86031 XY Female semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label xy female MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004535 +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10014316 +MONDO:0020066 Ehlers-Danlos syndrome skos:closeMatch Orphanet:98249 Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0013720 +MONDO:0020066 Ehlers-Danlos syndrome skos:narrowMatch ICD10CM:Q79.69 Other Ehlers-Danlos syndromes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym ehlers-danlos syndromes semapv:RegularExpressionReplacement MONDO:0020067 infectious encephalitis skos:exactMatch Orphanet:98252 Infectious encephalitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label infectious encephalitis -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 +MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonic epilepsy MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751778 -MONDO:0020074 progressive myoclonus epilepsy skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym progressive myoclonic epilepsy +MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch Orphanet:98261 Progressive myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 MONDO:0020075 genetic non-syndromic obesity skos:closeMatch Orphanet:98267 Genetic non-syndromic obesity semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym monogenic obesity due to a leptin-melanocortin pathway anomaly -MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292778 MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028576 +MONDO:0020076 myeloproliferative neoplasm skos:closeMatch Orphanet:98274 Myeloproliferative neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292778 MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0020077 myelodysplastic/myeloproliferative disease skos:closeMatch Orphanet:98275 Myelodysplastic/myeloproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054437 MONDO:0020082 dendritic cell tumor skos:closeMatch NCIT:C27260 Dendritic Cell Tumor, Not Otherwise Specified semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dendritic cell tumor, not otherwise specified @@ -31017,33 +31024,33 @@ MONDO:0020084 lymphoproliferative disease associated with primary immune disease MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d052496 MONDO:0020088 familial partial lipodystrophy skos:closeMatch Orphanet:98306 Familial partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0271694 -MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877192 MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10049287 +MONDO:0020089 acquired lipodystrophy skos:closeMatch Orphanet:98307 Acquired lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0877192 MONDO:0020102 hereditary stomatocytosis skos:closeMatch Orphanet:98365 Hereditary stomatocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1262483 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002880 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, autoimmune hemolytic -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002046 -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, autoimmune hemolytic MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement -MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 MONDO:0020108 autoimmune hemolytic anemia skos:narrowMatch ICD10CM:D59.19 Other autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym autoimmune hemolytic anemia semapv:RegularExpressionReplacement MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000744 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002046 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch Orphanet:98375 Autoimmune hemolytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0002880 +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, autoimmune hemolytic +MONDO:0020108 autoimmune hemolytic anemia skos:closeMatch OMIM:205700 anemia, autoimmune hemolytic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, autoimmune hemolytic MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037322 MONDO:0020110 pulmonary agenesis skos:closeMatch Orphanet:984 Pulmonary agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265780 -MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10038184 +MONDO:0020113 primary acquired red cell aplasia skos:closeMatch Orphanet:98421 Primary acquired red cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0034902 MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036062 MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:98428 Secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 MONDO:0020115 secondary polycythemia skos:closeMatch Orphanet:238547 Acquired secondary polycythemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318533 -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 -MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533847 MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009135 -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 +MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028641 +MONDO:0020120 skeletal muscle disorder skos:closeMatch Orphanet:98472 Skeletal muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1533847 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 -MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028356 +MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:97242 Congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0026850 MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009136 +MONDO:0020121 muscular dystrophy skos:closeMatch Orphanet:98473 Muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10028356 MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0270984 MONDO:0020123 metabolic myopathy skos:closeMatch Orphanet:98486 Metabolic myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068836 MONDO:0020124 neuromuscular junction disease skos:closeMatch Orphanet:98491 Neuromuscular junction disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020511 @@ -31056,22 +31063,22 @@ MONDO:0020144 cerebrovascular dementia skos:closeMatch Orphanet:98549 Rare cereb MONDO:0020212 superficial corneal dystrophy skos:closeMatch Orphanet:98625 Superficial corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2315777 MONDO:0020213 stromal corneal dystrophy skos:closeMatch Orphanet:98626 Stromal corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038457 MONDO:0020249 hereditary optic neuropathy skos:closeMatch Orphanet:98671 Hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061323 -MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338508 MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 +MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0338508 MONDO:0020250 autosomal dominant optic atrophy skos:closeMatch Orphanet:98672 Autosomal dominant optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d029241 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10046851 +MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014605 -MONDO:0020283 uveitis skos:closeMatch Orphanet:98715 Uveitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0042164 -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular canal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atrioventricular septal defect -MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular canal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label atrioventricular septal defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect +MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect MONDO:0020290 atrioventricular septal defect skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym endocardial cushion defect -MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344963 MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064962 MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10050053 +MONDO:0020291 hypoplastic right heart syndrome skos:closeMatch Orphanet:98723 Hypoplastic right heart syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0344963 MONDO:0020292 congenital anomaly of the great arteries skos:closeMatch Orphanet:98724 Congenital anomaly of the great arteries semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10061080 MONDO:0020294 atrial defect and interatrial communication skos:closeMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rare atrial defect and interatrial communication MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001164 @@ -31079,72 +31086,72 @@ MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Co MONDO:0020296 congenital arteriovenous fistula skos:closeMatch Orphanet:98731 Congenital arteriovenous fistula semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003226 MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:closeMatch Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3696898 MONDO:0020310 familial focal epilepsy with variable foci skos:exactMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci -MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 +MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10009018 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015477 MONDO:0020311 chronic myelomonocytic leukemia skos:closeMatch Orphanet:98823 Chronic myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023480 -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch NCIT:C7463 Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023479 +MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch NCIT:C7463 Acute Myelomonocytic Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch Orphanet:517 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856823 MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0280141 MONDO:0020321 acute undifferentiated leukemia skos:closeMatch Orphanet:98835 Acute undifferentiated leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10045516 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 -MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 +MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015456 MONDO:0020322 acute biphenotypic leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023464 -MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036710 MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1292754 +MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch Orphanet:98838 Primary mediastinal large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036710 MONDO:0020323 primary mediastinal large B-cell lymphoma skos:closeMatch NCIT:C9280 Primary Mediastinal (Thymic) Large B-Cell Lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary mediastinal (thymic) large b-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch Orphanet:98839 Intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069643 +MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206180 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017728 -MONDO:0020325 anaplastic large cell lymphoma skos:closeMatch Orphanet:98841 Anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206180 +MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 +MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056670 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017731 -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056670 -MONDO:0020326 lymphomatoid papulosis skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206182 MONDO:0020326 lymphomatoid papulosis skos:exactMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lyp MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056452 MONDO:0020331 indolent systemic mastocytosis skos:closeMatch Orphanet:98848 Indolent systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272203 MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1112486 MONDO:0020333 aggressive systemic mastocytosis skos:closeMatch Orphanet:98850 Aggressive systemic mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056453 -MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 +MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mast cell leukemia +MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast cell leukemia MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056450 +MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023461 MONDO:0020334 mast cell leukemia skos:closeMatch Orphanet:98851 Mast cell leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007946 -MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mast cell leukemia -MONDO:0020334 mast cell leukemia skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mast cell leukemia MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 MONDO:0020338 adult pure red cell aplasia skos:closeMatch NCIT:C70548 Acquired Pure Red Cell Aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired pure red cell aplasia -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868720 -MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066854 MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054091 +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868720 +MONDO:0020341 periventricular nodular heterotopia skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066854 MONDO:0020344 postsynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98913 Postsynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label postsynaptic congenital myasthenic syndromes MONDO:0020345 presynaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label presynaptic congenital myasthenic syndromes MONDO:0020346 synaptic congenital myasthenic syndrome skos:closeMatch Orphanet:98915 Synaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label synaptic congenital myasthenic syndromes MONDO:0020356 coloboma of iris skos:closeMatch Orphanet:98944 Coloboma of iris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10052642 MONDO:0020357 coloboma of eyelid skos:closeMatch Orphanet:98946 Coloboma of eyelid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521573 MONDO:0020364 posterior polymorphous corneal dystrophy skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym posterior polymorphous corneal dystrophy -MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma -MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:closeMatch NCIT:C150251 Primary Congenital Glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label primary congenital glaucoma +MONDO:0020366 congenital glaucoma skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym primary congenital glaucoma +MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmia -MONDO:0020366 congenital glaucoma skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmus -MONDO:0020366 congenital glaucoma skos:closeMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym primary congenital glaucoma -MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064032 +MONDO:0020366 congenital glaucoma skos:exactMatch Orphanet:98976 Congenital glaucoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital glaucoma +MONDO:0020366 congenital glaucoma skos:exactMatch OMIM:231300 glaucoma 3, primary congenital, a semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym buphthalmos MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2981140 +MONDO:0020367 juvenile open angle glaucoma skos:closeMatch Orphanet:98977 Juvenile glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10064032 MONDO:0020368 Axenfeld anomaly skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10058653 -MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057487 MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0544008 -MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059200 +MONDO:0020369 Chandler syndrome skos:closeMatch Orphanet:98979 Chandler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057487 MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1168173 +MONDO:0020370 Cogan-Reese syndrome skos:closeMatch Orphanet:98980 Cogan-Reese syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10059200 MONDO:0020373 early-onset anterior polar cataract skos:closeMatch Orphanet:98988 Early-onset anterior polar cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855179 MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 MONDO:0020374 cerulean cataract skos:closeMatch Orphanet:98989 Cerulean cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537955 @@ -31155,35 +31162,35 @@ MONDO:0020379 early-onset zonular cataract skos:closeMatch Orphanet:98995 Early- MONDO:0020381 patterned macular dystrophy skos:exactMatch OMIM:169150 macular dystrophy, patterned, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym patterned dystrophy of retinal pigment epithelium MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome skos:closeMatch Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10037450 -MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:99054 Valvular pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 +MONDO:0020395 valvar pulmonary stenosis skos:closeMatch Orphanet:3189 Congenital pulmonary valvar stenosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011666 MONDO:0020399 congenital hypoplasia of the mitral valve annulus skos:closeMatch Orphanet:99058 Hypoplasia of the mitral valve annulus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3165203 -MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066802 MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1868705 +MONDO:0020404 shone complex skos:closeMatch Orphanet:99063 Shone complex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066802 MONDO:0020417 right aortic arch skos:closeMatch Orphanet:99081 Right aortic arch semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067407 MONDO:0020418 dysphagia lusoria skos:closeMatch Orphanet:99082 Dysphagia lusoria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0267073 MONDO:0020420 pulmonary branch stenosis skos:closeMatch Orphanet:99084 Peripheral pulmonary stenosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label peripheral pulmonary stenosis MONDO:0020433 ectasia of the left appendage skos:closeMatch Orphanet:99102 Ectasia of the left atrial appendage semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectasia of the left atrial appendage -MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031302 MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031303 +MONDO:0020434 atrial septal defect, ostium secundum type skos:closeMatch Orphanet:99103 Atrial septal defect, ostium secundum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10031302 MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 MONDO:0020436 atrial septal defect, sinus venosus type skos:closeMatch Orphanet:99105 Atrial septal defect, sinus venosus type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548009 +MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 +MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 MONDO:0020437 atrial septal defect, ostium primum type skos:exactMatch Orphanet:1330 Partial atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label partial atrioventricular septal defect MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:1478 Interatrial communication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006344 -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 -MONDO:0020437 atrial septal defect, ostium primum type skos:closeMatch Orphanet:99106 Atrial septal defect, ostium primum type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c548006 MONDO:0020438 atrial septal aneurysm skos:closeMatch Orphanet:99107 Atrial septal aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0521533 MONDO:0020457 6-phosphogluconate dehydrogenase deficiency skos:closeMatch Orphanet:99135 6-phosphogluconate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619199 MONDO:0020459 unstable hemoglobin disease skos:closeMatch Orphanet:99139 Unstable hemoglobin disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272006 -MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272362 MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069495 +MONDO:0020460 acquired von willebrand syndrome skos:closeMatch Orphanet:99147 Acquired von Willebrand syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0272362 MONDO:0020466 monosomy X skos:exactMatch NCIT:C36630 Monosomy X semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy x MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 -MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018265 +MONDO:0020479 pituitary gigantism skos:closeMatch Orphanet:99725 Pituitary gigantism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005877 MONDO:0020479 pituitary gigantism skos:closeMatch NCIT:C93046 Gigantism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gigantism MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency skos:closeMatch NCIT:C129076 Molybdenum Cofactor Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label molybdenum cofactor deficiency MONDO:0020481 myotonia fluctuans skos:closeMatch Orphanet:99734 Myotonia fluctuans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0752355 @@ -31192,30 +31199,30 @@ MONDO:0020482 myotonia permanens skos:exactMatch OMIM:608390 myotonia, potassium MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 MONDO:0020485 King-Denborough syndrome skos:closeMatch Orphanet:99741 King-Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619542 -MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054161 MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343528 -MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NCIT:C126813 Aldosterone Synthase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aldosterone synthase deficiency +MONDO:0020487 Pontiac fever skos:closeMatch Orphanet:99748 Pontiac fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10054161 MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:610600 corticosterone methyloxidase iia 2 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-oxidase deficiency MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch OMIM:203400 corticosterone methyloxidase iia 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 18-hydroxylase deficiency -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 -MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 +MONDO:0020489 familial hyperreninemic hypoaldosteronism type 1 skos:exactMatch NCIT:C126813 Aldosterone Synthase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label aldosterone synthase deficiency MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic trisomy chromosome type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 9 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label band heterotopia +MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 +MONDO:0020490 mosaic trisomy 9 skos:closeMatch Orphanet:99776 Mosaic trisomy 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535454 +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical laminar heterotopia MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym subcortical band heterotopia -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double cortex syndrome -MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym band heterotopia -MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:607432 lissencephaly 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym subcortical laminar heterotopia +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:600348 band heterotopia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label band heterotopia +MONDO:0020491 subcortical band heterotopia skos:closeMatch Orphanet:99796 Subcortical band heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1848201 +MONDO:0020491 subcortical band heterotopia skos:exactMatch OMIM:300067 lissencephaly, x-linked, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym double cortex syndrome MONDO:0020492 hemimegalencephaly skos:closeMatch Orphanet:99802 Hemimegalencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0431391 MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym haddad syndrome -MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym haddad syndrome +MONDO:0020493 Haddad syndrome skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020494 oculootodental syndrome skos:closeMatch Orphanet:99806 Oculootodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750325 MONDO:0020494 oculootodental syndrome skos:exactMatch OMIM:166750 otodental dysplasia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculootodental syndrome MONDO:0020495 PEHO-like syndrome skos:closeMatch Orphanet:99807 PEHO-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617507 -MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026822 MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024788 +MONDO:0020500 Marburg hemorrhagic fever skos:closeMatch Orphanet:99826 Marburg hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10026822 MONDO:0020501 Crimean-Congo hemorrhagic fever skos:closeMatch Orphanet:99827 Crimean-Congo hemorrhagic fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0019099 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015004 @@ -31224,46 +31231,46 @@ MONDO:0020502 yellow fever skos:closeMatch Orphanet:99829 Yellow fever semapv:Le MONDO:0020506 ovarioleukodystrophy skos:closeMatch Orphanet:99853 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847967 MONDO:0020506 ovarioleukodystrophy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarioleukodystrophy MONDO:0020507 Cree leukoencephalopathy skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cree leukoencephalopathy -MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:543 Burkitt lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 -MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatocytic seminoma -MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatocytic seminoma +MONDO:0020511 precursor B-cell acute lymphoblastic leukemia skos:closeMatch Orphanet:99860 Precursor B-cell acute lymphoblastic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006413 MONDO:0020513 spermatocytic seminoma skos:closeMatch Orphanet:99865 Spermatocytic seminoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0334517 +MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spermatocytic seminoma +MONDO:0020513 spermatocytic seminoma skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spermatocytic seminoma MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020522 Ehlers-Danlos syndrome type 7B skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label transient neonatal diabetes mellitus MONDO:0020525 transient neonatal diabetes mellitus skos:exactMatch Orphanet:99886 Transient neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient neonatal diabetes mellitus -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d047748 -MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10035109 +MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:96253 Cushing disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221406 MONDO:0020528 ACTH-dependent Cushing syndrome skos:closeMatch Orphanet:99892 ACTH-dependent Cushing syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342442 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2930924 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 MONDO:0020530 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency skos:closeMatch Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535530 MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary skos:closeMatch Orphanet:99912 Malignant dysgerminomatous germ cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant dysgerminomatous germ cell tumor of the ovary -MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gynandroblastoma MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0018413 +MONDO:0020540 ovarian gynandroblastoma skos:closeMatch Orphanet:99914 Gynandroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gynandroblastoma MONDO:0020541 maligant granulosa cell tumor of ovary skos:closeMatch Orphanet:99915 Maligant granulosa cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label maligant granulosa cell tumor of the ovary +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 +MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003810 MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant sertoli-leydig cell tumor of the ovary -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206723 -MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036769 -MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044251 MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343532 +MONDO:0020544 streptococcal toxic-shock syndrome skos:closeMatch Orphanet:99918 Streptococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044251 MONDO:0020545 staphylococcal toxic-shock syndrome skos:closeMatch Orphanet:99919 Staphylococcal toxic-shock syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10044250 -MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856825 MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066260 -MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0867389 +MONDO:0020546 acute graft versus host disease skos:closeMatch Orphanet:99920 Acute graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0856825 MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066261 +MONDO:0020547 chronic graft versus host disease skos:closeMatch Orphanet:99921 Chronic graft versus host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0867389 MONDO:0020548 ocular pemphigoid skos:closeMatch Orphanet:99922 Ocular cicatricial pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067776 MONDO:0020549 invasive hydatidiform mole skos:closeMatch Orphanet:99925 Invasive mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0008493 MONDO:0020550 gestational choriocarcinoma skos:closeMatch Orphanet:99926 Gestational choriocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0349557 -MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206666 MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 -MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 +MONDO:0020552 placental site trophoblastic tumor skos:closeMatch Orphanet:99928 Placental site trophoblastic tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d018245 MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842984 +MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K skos:closeMatch Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842983 MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069682 MONDO:0020559 O'Sullivan-McLeod syndrome skos:closeMatch Orphanet:99965 O'Sullivan-McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2721741 @@ -31278,66 +31285,66 @@ MONDO:0020572 complex regional pain syndrome type 2 skos:closeMatch Orphanet:999 MONDO:0020573 inherited disease susceptibility skos:closeMatch NCIT:C17939 Genetic Susceptibility semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic susceptibility MONDO:0020583 chromosome 17 disorder skos:closeMatch NCIT:C129438 Chromosome 17 Abnormality semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 17 abnormality semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020598 malabsorption syndrome skos:exactMatch NCIT:C113483 Malabsorption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malabsorption -MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement -MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10CM:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0020601 mosquito-borne viral encephalitis skos:narrowMatch ICD10WHO:A83.8 Other mosquito-borne viral encephalitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mosquito-borne viral encephalitis semapv:RegularExpressionReplacement +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysplasia gigantism syndrome, x-linked +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome +MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312870 -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym golabi-rosen syndrome -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym simpson-golabi-behmel syndrome type 1 -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:closeMatch OMIM:312870 simpson-golabi-behmel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sgbs -MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 skos:exactMatch Orphanet:373 Simpson-Golabi-Behmel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym simpson dysmorphia syndrome MONDO:0020603 X-linked chondrodysplasia punctata 2 skos:closeMatch Orphanet:35173 X-linked dominant chondrodysplasia punctata semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302960 +MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism -MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liddle syndrome MONDO:0020607 Liddle syndrome 1 skos:closeMatch NCIT:C84827 Liddle Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177200 -MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liddle syndrome MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoaldosteronism +MONDO:0020607 Liddle syndrome 1 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:177200 +MONDO:0020607 Liddle syndrome 1 skos:closeMatch OMIM:177200 liddle syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 skos:closeMatch Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618097 MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617829 MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 MONDO:0020639 monosomy skos:exactMatch NCIT:C3239 Monosomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label monosomy -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome +MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteodysgenesis, multisynostotic, with fractures MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multisynostotic osteodysgenesis with long bone fractures -MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch Orphanet:83 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 +MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trapezoidocephaly-synostosis syndrome MONDO:0020680 acute bronchiolitis skos:closeMatch NCIT:C39659 Acute Bronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute bronchiolitis -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb, clubfoot, and progressive joint and skin laxity syndrome -MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, distal, with peculiar facies and hydronephrosis MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dundar syndrome MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch Orphanet:2953 Musculocontractural Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome -MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adducted thumb-clubfoot syndrome +MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch OMIM:601776 ehlers-danlos syndrome, musculocontractural type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, musculocontractural type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch Orphanet:75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch OMIM:130070 ehlers-danlos syndrome, spondylodysplastic type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, progeroid type, type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, periodontitis type +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch OMIM:130080 ehlers-danlos syndrome, periodontal type, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, periodontal type, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch Orphanet:75392 Periodontal Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 -MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C2864 AIDS Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids dementia MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C3715 AIDS Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids encephalopathy +MONDO:0020689 AIDS dementia complex skos:closeMatch NCIT:C2864 AIDS Dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aids dementia MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral anomalies -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysplasia MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis -MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:277300 spondylocostal dysostosis 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysplasia MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch OMIM:122600 spondylocostal dysostosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylothoracic dysostosis +MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch Orphanet:2311 Autosomal recessive spondylocostal dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 MONDO:0020701 brachydactyly type A1A skos:closeMatch OMIM:112500 brachydactyly, iia a1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym farabee-type brachydactyly MONDO:0020702 autosomal dominant epidermolytic ichthyosis skos:exactMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label autosomal dominant epidermolytic ichthyosis MONDO:0020704 inherited rippling muscle disease skos:closeMatch Orphanet:97238 Rippling muscle disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10069417 -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neural tube defects, susceptibility to +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch OMIM:182940 neural tube defects, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neural tube defects, susceptibility to -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch NCIT:C101214 Spina Bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:268357 Neural tube closure defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch Orphanet:823 Isolated spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182940 MONDO:0020712 46,XY sex reversal 1 skos:closeMatch Orphanet:242 46,XY complete gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400044 MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch Orphanet:31837 Pulmonary venoocclusive disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265450 MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch OMIM:265450 pulmonary venoocclusive disease 1, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary venoocclusive disorder type 1, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -31346,118 +31353,118 @@ MONDO:0020715 multiple system atrophy 1, susceptibility to skos:closeMatch Orpha MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch Orphanet:95716 Familial thyroid dyshormonogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274400 MONDO:0020717 autosomal dominant woolly hair skos:closeMatch Orphanet:170 Woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194300 MONDO:0020718 congenital short bowel syndrome, autosomal recessive skos:closeMatch Orphanet:2301 Congenital short bowel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615237 -MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked hypophosphatemic rickets +MONDO:0020720 X-linked hypophosphatemic rickets skos:exactMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked hypophosphatemic rickets MONDO:0020720 X-linked hypophosphatemic rickets skos:closeMatch Orphanet:89936 X-linked hypophosphatemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3540852 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, x-linked -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221018 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hereditary sideroblastic +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, hypochromic -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:98362 Constitutional sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221018 +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, x-linked +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary iron-loading anemia MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, sideroblastic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:75563 X-linked sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536761 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch Orphanet:1047 Sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300751 -MONDO:0020721 X-linked sideroblastic anemia 1 skos:closeMatch OMIM:300751 anemia, sideroblastic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary iron-loading anemia -MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis, calcium oxalate +MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephrolithiasis, calcium oxalate MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch OMIM:167030 nephrolithiasis, calcium oxalate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urolithiasis, calcium oxalate +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha, type 25-hydroxyvitamin d3 deficiency, selective semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxycholecalciferol-1-hydroxylase deficiency MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 1-alpha-hydroxylase deficiency -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 -MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268689 MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pddr type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116860 +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch OMIM:264700 vitamin d hydroxylation-deficient rickets, iia 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 25-hydroxycholecalciferol-1-hydroxylase deficiency +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268689 +MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch Orphanet:289157 Hypocalcemic vitamin D-dependent rickets semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations +MONDO:0020724 cerebral cavernous malformation 1 skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:116860 MONDO:0020725 anemia due to chronic disorder skos:closeMatch NCIT:C35659 Anemia due to Chronic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anemia due to chronic disorder MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:174000 MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muc1-related autosomal dominant tubulointerstitial kidney disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd +MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 skos:closeMatch OMIM:174000 tubulointerstitial kidney disease, autosomal dominant, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mckd MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement -MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616045 -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement +MONDO:0020727 combined oxidative phosphorylation deficiency 22 skos:closeMatch OMIM:616045 combined oxidative phosphorylation deficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 22 semapv:RegularExpressionReplacement MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypouricemia, renal, type 1 semapv:RegularExpressionReplacement -MONDO:0020728 hypouricemia, renal 1 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220150 MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal hypouricemia +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dalmatian hypouricemia +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch Orphanet:94088 Hereditary renal hypouricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220150 +MONDO:0020728 hypouricemia, renal 1 skos:closeMatch OMIM:220150 hypouricemia, renal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypouricemia, renal, type 1 semapv:RegularExpressionReplacement MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia, autosomal recessive, due to ighm defect -MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 +MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym agammaglobulinemia type 1, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:229717 Isolated agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 +MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 MONDO:0020731 arbovirus infection skos:closeMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthropod-borne viral infection MONDO:0020731 arbovirus infection skos:closeMatch NCIT:C34396 Arthropod-Borne Viral Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthropod-borne viral infection MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 -MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 MONDO:0020732 progeria skos:exactMatch NCIT:C34951 Progeria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeria -MONDO:0020732 progeria skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria +MONDO:0020732 progeria skos:closeMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011371 MONDO:0020732 progeria skos:exactMatch Orphanet:740 Hutchinson-Gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints +MONDO:0020732 progeria skos:exactMatch OMIM:176670 hutchinson-gilford progeria syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progeria MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sym1 +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary absence of the proximal interphalangeal joints +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing symphalangism +MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label symphalangism, proximal, type 1a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym symphalangism, proximal, type 1a semapv:RegularExpressionReplacement MONDO:0020733 proximal symphalangism 1A skos:closeMatch Orphanet:3250 Proximal symphalangism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 -MONDO:0020733 proximal symphalangism 1A skos:closeMatch OMIM:185800 symphalangism, proximal, 1a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing symphalangism -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to aimah +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenal hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corticotropin-independent macronodular adrenal hyperplasia +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cushing syndrome, adrenal, due to aimah MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia -MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenal hyperplasia +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenocortical hyperplasia MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch Orphanet:189427 Cushing syndrome due to macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219080 -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenocorticotropic hormone-independent macronodular adrenal hyperplasia MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair syndrome +MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191480 MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pili trianguli et canaliculi MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch OMIM:191480 uncombable hair syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uncombable hair syndrome -MONDO:0020736 uncombable hair syndrome 1 skos:closeMatch Orphanet:1410 Uncombable hair syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uncombable hair syndrome -MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa10 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 10 with or without ataxia, mental retardation, and seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch OMIM:616732 optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym opa10 MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures skos:closeMatch Orphanet:98676 Autosomal recessive isolated optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616732 -MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label skin creases, congenital symmetric circumferential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch OMIM:156610 skin creases, congenital symmetric circumferential, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin creases, congenital symmetric circumferential, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch Orphanet:2505 Multiple benign circumferential skin creases on limbs semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 MONDO:0020739 hypercalcemia, infantile, 1 skos:closeMatch Orphanet:300547 Autosomal recessive infantile hypercalcemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:143880 -MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:238468 Hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 +MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:69088 Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 skos:closeMatch Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300291 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epd +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, pyridoxine-dependent +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, pyridoxine-dependent MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine dependency with seizures -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266100 -MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aasa dehydrogenase deficiency MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch OMIM:266100 epilepsy, pyridoxine-dependent semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pyridoxine-dependent epilepsy -MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 +MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine-dependent epilepsy MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:530995 Mixed phenotype acute leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 +MONDO:0020743 mixed phenotype acute leukemia skos:closeMatch Orphanet:86851 Acute leukemia of ambiguous lineage semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067399 MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch Orphanet:2990 Autosomal recessive multiple pterygium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618469 MONDO:0020747 sitosterolemia 1 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210250 MONDO:0020748 sitosterolemia 2 skos:closeMatch Orphanet:2882 Sitosterolemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618666 MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221770 MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 skos:closeMatch Orphanet:2770 Nasu-Hakola disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618193 MONDO:0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myoclonic epilepsy, juvenile, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020754 visceral myopathy skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis -MONDO:0020754 visceral myopathy skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0020754 visceral myopathy skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal -MONDO:0020754 visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155310 MONDO:0020754 visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis +MONDO:0020754 visceral myopathy skos:closeMatch OMIM:155310 visceral myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megaduodenum and/or megacystis +MONDO:0020754 visceral myopathy skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:155310 +MONDO:0020754 visceral myopathy skos:closeMatch OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudoobstruction, idiopathic intestinal MONDO:0020756 migraine, familial hemiplegic, 1 skos:closeMatch Orphanet:569 Familial or sporadic hemiplegic migraine semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:141500 MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 skos:closeMatch Orphanet:64280 Childhood absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600131 MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 skos:closeMatch OMIM:618646 diencephalic-mesencephalic junction dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia @@ -31465,8 +31472,8 @@ MONDO:0020765 neuropathy, congenital hypomyelinating, 2 skos:closeMatch Orphanet MONDO:0020766 neuropathy, congenital hypomyelinating, 3 skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618186 MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:closeMatch NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cauda equina syndrome with neurogenic bladder MONDO:0020767 cauda equina syndrome with neurogenic bladder skos:closeMatch NCIT:C34453 Cauda Equina Syndrome with Neurogenic Bladder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cauda equina syndrome with neurogenic bladder -MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 skos:closeMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive, with axonal neuropathy type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 skos:closeMatch Orphanet:1941 Juvenile absence epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607631 MONDO:0020773 cerebrospinal fluid rhinorrhea skos:closeMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid rhinorrhea MONDO:0020773 cerebrospinal fluid rhinorrhea skos:closeMatch NCIT:C84627 Cerebrospinal Fluid Rhinorrhea semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid rhinorrhea @@ -31478,41 +31485,41 @@ MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020778 cone-rod dystrophy and hearing loss 1 skos:closeMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crdhl -MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020780 cone-rod dystrophy and hearing loss 2 skos:closeMatch OMIM:618358 cone-rod dystrophy and hearing loss 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod dystrophy and hearing loss type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch Orphanet:555407 NAD(P)HX epimerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617186 -MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 skos:closeMatch OMIM:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020782 chronic gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis MONDO:0020782 chronic gingivitis skos:closeMatch NCIT:C34474 Chronic Gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842180 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 -MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:90307 Parkes Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608354 -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618196 -MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:3205 Sturge-Weber syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0038505 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:2346 Angioosteohypertrophic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608355 +MONDO:0020783 capillary malformation-arteriovenous malformation 1 skos:closeMatch Orphanet:137667 Capillary malformation-arteriovenous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842180 MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch OMIM:618196 capillary malformation-arteriovenous malformation 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym capillary malformation-arteriovenous malformation type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020785 capillary malformation-arteriovenous malformation 2 skos:closeMatch Orphanet:1053 Vein of Galen aneurysmal malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618196 MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 skos:closeMatch OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypomagnesemia, seizures, and mental retardation type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020789 pseudo-TORCH syndrome 1 skos:closeMatch Orphanet:1229 Congenital intrauterine infection-like syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251290 MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch OMIM:607313 gaze palsy, familial horizontal, with progressive scoliosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, progressive external, and scoliosis MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607313 MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann epithelial -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch NCIT:C84795 Meesmann Corneal Dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meesmann corneal dystrophy +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, juvenile epithelial, of meesmann MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch OMIM:122100 corneal dystrophy, meesmann, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label meesmann corneal dystrophy MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164310 MONDO:0020795 Silver-Russell syndrome 5 skos:closeMatch Orphanet:397590 Silver-Russell syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618908 MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch Orphanet:813 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 MONDO:0020798 hypoparathyroidism, familial isolated, 2 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618883 -MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dentigerous cyst +MONDO:0020815 dentigerous cyst skos:exactMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:closeMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentigerous cyst MONDO:0020815 dentigerous cyst skos:closeMatch NCIT:C173832 Dentigerous Cyst semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dentigerous cyst MONDO:0020820 distal arthrogryposis type 2B1 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601680 @@ -31540,148 +31547,148 @@ MONDO:0020920 escherichia coli infection skos:closeMatch NCIT:C34594 Escherichia MONDO:0020971 gonococcal urethritis skos:closeMatch NCIT:C26787 Gonococcal Urethritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gonococcal urethritis MONDO:0020974 laryngeal granuloma skos:closeMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal granuloma MONDO:0020974 laryngeal granuloma skos:closeMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label laryngeal granuloma -MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal granuloma MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label laryngeal granuloma +MONDO:0020974 laryngeal granuloma skos:exactMatch NCIT:C3068 Laryngeal Granuloma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label laryngeal granuloma MONDO:0020977 granulomatous prostatitis skos:closeMatch NCIT:C26789 Granulomatous Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulomatous prostatitis MONDO:0020977 granulomatous prostatitis skos:closeMatch NCIT:C26789 Granulomatous Prostatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label granulomatous prostatitis MONDO:0020983 myocardial rupture skos:closeMatch NCIT:C34668 Cardiac Rupture semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac rupture MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch NCIT:C129072 Hereditary Persistence of Fetal Hemoglobin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary persistence of fetal hemoglobin +MONDO:0021001 hemochromatosis type 1 skos:exactMatch NCIT:C82892 Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis +MONDO:0021001 hemochromatosis type 1 skos:narrowMatch ICD10CM:E83.118 Other hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis semapv:RegularExpressionReplacement +MONDO:0021001 hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label symptomatic form of hemochromatosis type 1 MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of classic hemochromatosis MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym symptomatic form of hfe-related hereditary hemochromatosis MONDO:0021001 hemochromatosis type 1 skos:closeMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:235200 -MONDO:0021001 hemochromatosis type 1 skos:narrowMatch ICD10CM:E83.118 Other hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hemochromatosis semapv:RegularExpressionReplacement -MONDO:0021001 hemochromatosis type 1 skos:exactMatch NCIT:C82892 Hemochromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemochromatosis -MONDO:0021001 hemochromatosis type 1 skos:exactMatch Orphanet:465508 Symptomatic form of hemochromatosis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label symptomatic form of hemochromatosis type 1 -MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039075 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10042778 MONDO:0021002 syndactyly skos:exactMatch NCIT:C87125 Syndactyly semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndactyly -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 +MONDO:0021002 syndactyly skos:closeMatch Orphanet:90025 Non-syndromic syndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013576 +MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603596 MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 -MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10036063 -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome +MONDO:0021003 polydactyly skos:closeMatch Orphanet:2913 Non-syndromic polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d017689 MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10067148 MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog syndrome -MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog-scott syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch Orphanet:915 Aarskog-Scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia +MONDO:0021005 faciodigitogenital syndrome skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog-scott syndrome +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciogenital dysplasia +MONDO:0021005 faciodigitogenital syndrome skos:closeMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym aarskog-scott syndrome MONDO:0021005 faciodigitogenital syndrome skos:closeMatch NCIT:C129720 Aarskog Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label aarskog syndrome -MONDO:0021005 faciodigitogenital syndrome skos:exactMatch OMIM:305400 aarskog-scott syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym faciodigitogenital syndrome MONDO:0021011 hereditary progressive chorea without dementia skos:closeMatch Orphanet:1429 Benign hereditary chorea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118700 MONDO:0021012 susceptibility to visceral leishmaniasis, 1 skos:closeMatch Orphanet:507 Leishmaniasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608207 -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair-brain syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy-neurocutaneous syndrome -MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bids syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amish brittle hair brain syndrome +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bids syndrome +MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair-brain syndrome MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234050 MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch OMIM:234050 trichothiodystrophy 4, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy, nonphotosensitive type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3501858 -MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1d +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603511 MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant limb-girdle muscular dystrophy type 1d +MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) skos:closeMatch Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym limb-girdle muscular dystrophy type 1d MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537863 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300500 MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch Orphanet:54 X-linked recessive ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342684 -MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10057034 MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:79234 Crigler-Najjar syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 +MONDO:0021020 Crigler-Najjar syndrome type 1 skos:closeMatch Orphanet:205 Crigler-Najjar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218800 MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch Orphanet:1513 Craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 MONDO:0021022 hereditary hyperekplexia skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kok disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021024 malaria, susceptibility to skos:closeMatch Orphanet:673 Malaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611162 -MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial -MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:215600 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial +MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cirrhosis, familial +MONDO:0021025 cirrhosis, familial, with antigenemia skos:closeMatch OMIM:118900 cirrhosis, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cirrhosis, familial MONDO:0021032 herpes zoster with dermatitis of eyelid skos:closeMatch NCIT:C34696 Herpes Zoster Dermatitis of Eyelid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpes zoster dermatitis of eyelid MONDO:0021035 alopecia-intellectual disability syndrome 1 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203650 MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 MONDO:0021040 pancreatic neoplasm skos:closeMatch Orphanet:217074 Rare carcinoma of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010190 MONDO:0021040 pancreatic neoplasm skos:closeMatch NCIT:C12393 Pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreas MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 -MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017638 MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005910 +MONDO:0021042 glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017638 MONDO:0021047 breast phyllodes tumor skos:exactMatch Orphanet:180261 Phyllodes tumor of the breast semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label phyllodes tumor of the breast -MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006007 MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1704327 +MONDO:0021054 bone sarcoma skos:closeMatch Orphanet:223727 Bone sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006007 +MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056981 MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032580 MONDO:0021055 classic familial adenomatous polyposis skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adenomatous polyposis of the colon -MONDO:0021055 classic familial adenomatous polyposis skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10056981 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial adenomatous polyposis, attenuated -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial polyposis of the colon -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, adenomatous intestinal MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain tumor-polyposis syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis of the colon +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017097 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial polyposis of the colon +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch NCIT:C6728 Gardner Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis coli, attenuated +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial adenomatous polyposis, attenuated +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polyposis, adenomatous intestinal MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gardner syndrome +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:220460 Attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:99818 Turcot syndrome with polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:733 Familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis coli, attenuated -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:247806 APC-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:175100 -MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch NCIT:C6728 Gardner Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome -MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch OMIM:175100 familial adenomatous polyposis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adenomatous polyposis of the colon +MONDO:0021056 familial adenomatous polyposis 1 skos:closeMatch Orphanet:79665 Gardner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gardner syndrome MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement +MONDO:0021061 neurofibromatosis skos:narrowMatch ICD10CM:Q85.09 Other neurofibromatosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym neurofibromatosis semapv:RegularExpressionReplacement MONDO:0021061 neurofibromatosis skos:closeMatch NCIT:C3274 Neurofibromatosis Type 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neurofibromatosis type 2 MONDO:0021063 malignant colon neoplasm skos:exactMatch OMIM:114500 colorectal cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym colon cancer -MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch NCIT:C3060 Glomus Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor +MONDO:0021064 jugulotympanic paraganglioma skos:closeMatch Orphanet:391651 Glomus tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label glomus tumor MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharoptosis with absent eye movements -MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, congenital MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym feom1 locus +MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis of extraocular muscles, congenital, type 3b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch Orphanet:45358 Congenital fibrosis of extraocular muscles semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym levin syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021093 cranioectodermal dysplasia 1 skos:closeMatch Orphanet:1515 Cranioectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218330 MONDO:0021094 immunodeficiency disease skos:closeMatch NCIT:C3131 Immunodeficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency syndrome MONDO:0021094 immunodeficiency disease skos:exactMatch NCIT:C39725 Immunodeficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 -MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0027404 +MONDO:0021107 narcolepsy skos:closeMatch Orphanet:2073 Narcolepsy type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d009290 MONDO:0021113 respiratory failure skos:closeMatch NCIT:C27043 Acute Respiratory Failure semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute respiratory failure MONDO:0021117 lung neoplasm skos:closeMatch NCIT:C12468 Lung semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lung -MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female infertility MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label female infertility +MONDO:0021124 female infertility skos:exactMatch NCIT:C181774 Female Infertility semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label female infertility MONDO:0021125 disease characteristic skos:exactMatch NCIT:C27992 Disease Qualifier semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder qualifier semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0021129 microphthalmia skos:closeMatch NCIT:C98989 Microphthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label microphthalmos MONDO:0021129 microphthalmia skos:closeMatch Orphanet:35612 Nanophthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label nanophthalmos +MONDO:0021129 microphthalmia skos:closeMatch NCIT:C98989 Microphthalmos semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label microphthalmos MONDO:0021137 not rare skos:exactMatch NCIT:C43461 Common semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label common MONDO:0021140 congenital skos:exactMatch NCIT:C99210 Congenital semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital MONDO:0021141 acquired skos:exactMatch NCIT:C85869 Acquired semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired -MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021142 acquired rippling muscle disease skos:exactMatch Orphanet:206575 Rippling muscle disease with myasthenia gravis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acquired rippling muscle disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021148 female reproductive system neoplasm skos:closeMatch Orphanet:98063 Rare gynecological tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017416 -MONDO:0021152 inherited skos:closeMatch NCIT:C17938 Genetic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic MONDO:0021152 inherited skos:exactMatch NCIT:C28018 Inherited semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label inherited +MONDO:0021152 inherited skos:closeMatch NCIT:C17938 Genetic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic MONDO:0021152 inherited skos:closeMatch NCIT:C27998 Hereditary semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hereditary MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dermis disorder -MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021154 dermis disorder skos:exactMatch Orphanet:79377 Dermis disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dermis disorder semapv:RegularExpressionReplacement -MONDO:0021154 dermis disorder skos:broadMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement +MONDO:0021154 dermis disorder skos:closeMatch Orphanet:79381 Other dermis disorder semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym dermis disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0021156 hypophysitis skos:exactMatch NCIT:C121147 Hypophysitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophysitis MONDO:0021162 carotenemia skos:exactMatch NCIT:C26963 Carotenemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carotenemia MONDO:0021175 herpetic vulvovaginitis skos:closeMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpetic vulvovaginitis MONDO:0021175 herpetic vulvovaginitis skos:closeMatch NCIT:C34697 Herpetic Vulvovaginitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpetic vulvovaginitis +MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement +MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.49 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement -MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlipidemia -MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperlipidemia +MONDO:0021187 hyperlipidemia skos:exactMatch NCIT:C34707 Hyperlipidemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperlipidemia MONDO:0021187 hyperlipidemia skos:closeMatch Orphanet:181422 Rare hyperlipidemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020473 -MONDO:0021187 hyperlipidemia skos:narrowMatch ICD10CM:E78.4 Other hyperlipidemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym hyperlipidemia semapv:RegularExpressionReplacement MONDO:0021203 serous otitis media skos:exactMatch NCIT:C34886 Secretory Otitis Media semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label secretory otitis media MONDO:0021227 adrenal gland neoplasm skos:closeMatch Orphanet:100091 Adrenal/paraganglial tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adrenal/paraganglial tumor MONDO:0021281 cavernous hemangioma of retina skos:closeMatch Orphanet:71213 Retinal capillary malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0730304 -MONDO:0021315 malignant tumor of nasopharynx skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153392 MONDO:0021315 malignant tumor of nasopharynx skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0238301 +MONDO:0021315 malignant tumor of nasopharynx skos:closeMatch Orphanet:150 Nasopharyngeal carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0153392 MONDO:0021355 neoplasm of esophagus skos:closeMatch Orphanet:70482 Carcinoma of esophagus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014859 MONDO:0021367 leukemia, myeloid, accelerated-phase skos:closeMatch NCIT:C3173 Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label accelerated phase chronic myelogenous leukemia, bcr-abl1 positive MONDO:0021377 hypertrophic lichen planus skos:closeMatch NCIT:C34779 Hypertrophic Lichen Planus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic lichen planus @@ -31693,13 +31700,13 @@ MONDO:0021559 non-autoimmune hemolytic anemia skos:closeMatch NCIT:C34853 Non-Au MONDO:0021559 non-autoimmune hemolytic anemia skos:closeMatch NCIT:C34853 Non-Autoimmune Hemolytic Anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-autoimmune hemolytic anemia MONDO:0021562 omphalitis skos:closeMatch NCIT:C116008 Omphalitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omphalitis MONDO:0021568 renal tubule disorder skos:closeMatch Orphanet:93603 Rare renal tubular disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0151747 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloilioperoneal atrophy with cardiopathy -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 -MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0410190 +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98853 Autosomal dominant Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:98855 Autosomal recessive Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2750035 MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch Orphanet:261 Emery-Dreifuss muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:181350 +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scapuloilioperoneal atrophy with cardiopathy +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant +MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant skos:closeMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym emery-dreifuss muscular dystrophy, autosomal dominant MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym disseminated sclerosis MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple sclerosis, susceptibility to MONDO:0021571 multiple sclerosis, susceptibility to 1 skos:closeMatch OMIM:126200 multiple sclerosis, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label multiple sclerosis, susceptibility to @@ -31707,14 +31714,14 @@ MONDO:0021573 oocyte maturation defect 2 skos:closeMatch Orphanet:488191 Female MONDO:0021574 oocyte maturation defect 3 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617712 MONDO:0021575 oocyte maturation defect 4 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617743 MONDO:0021636 astrocytic tumor skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym astrocytoma -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma -MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003571 MONDO:0021636 astrocytic tumor skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma +MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10003571 +MONDO:0021636 astrocytic tumor skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label astrocytoma MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93403 Syndactyly type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538153 MONDO:0021651 synpolydactyly skos:exactMatch NCIT:C125597 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly -MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265553 MONDO:0021651 synpolydactyly skos:exactMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polysyndactyly +MONDO:0021651 synpolydactyly skos:closeMatch Orphanet:93338 Polysyndactyly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265553 MONDO:0021657 ovarian sex cord-stromal tumor skos:closeMatch NCIT:C4208 Ovarian Sex Cord Tumor with Annular Tubules semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian sex cord tumor with annular tubules MONDO:0021660 deep seated dermatophytosis skos:closeMatch Orphanet:397587 Deep dermatophytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1395264 MONDO:0021662 bile duct neoplasm skos:closeMatch Orphanet:70567 Cholangiocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001650 @@ -31722,13 +31729,13 @@ MONDO:0021662 bile duct neoplasm skos:closeMatch Orphanet:70567 Cholangiocarcino MONDO:0021667 neuralgia skos:exactMatch NCIT:C79695 Neuralgia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neuralgia MONDO:0021667 neuralgia skos:exactMatch NCIT:C79695 Neuralgia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuralgia MONDO:0021718 polyneuritis skos:closeMatch NCIT:C26864 Polyneuritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polyneuritis -MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement +MONDO:0021722 vulvodynia skos:narrowMatch ICD10CM:N94.818 Other vulvodynia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym vulvodynia semapv:RegularExpressionReplacement MONDO:0021723 vaginismus skos:exactMatch NCIT:C78703 Vaginismus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vaginismus MONDO:0021723 vaginismus skos:exactMatch NCIT:C78703 Vaginismus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vaginismus MONDO:0021736 proctosigmoiditis skos:closeMatch NCIT:C34950 Proctosigmoiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label proctosigmoiditis -MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement +MONDO:0021739 prurigo skos:narrowMatch ICD10CM:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021739 prurigo skos:narrowMatch ICD10WHO:L28.2 Other prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym prurigo semapv:RegularExpressionReplacement MONDO:0021750 pyonephrosis skos:closeMatch NCIT:C123032 Pyonephrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyonephrosis @@ -31755,13 +31762,13 @@ MONDO:0022103 chronic prostatitis skos:closeMatch NCIT:C26930 Chronic Prostatiti MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym central centrifugal cicatricial alopecia MONDO:0022113 central centrifugal cicatricial alopecia skos:closeMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label central centrifugal cicatricial alopecia MONDO:0022174 chromosome 12p deletion skos:closeMatch NCIT:C36410 Loss of Chromosome 12p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 12p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022180 chromosome 16 trisomy skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022180 chromosome 16 trisomy skos:closeMatch NCIT:C37866 Trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0022180 chromosome 16 trisomy skos:closeMatch Orphanet:1708 Mosaic trisomy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022293 vascular disorder of penis skos:closeMatch NCIT:C35218 Penile Vascular Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label penile vascular disorder MONDO:0022293 vascular disorder of penis skos:closeMatch NCIT:C35218 Penile Vascular Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label penile vascular disorder MONDO:0022308 corticobasal degeneration disorder skos:closeMatch Orphanet:454887 Corticobasal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corticobasal syndrome -MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair defect with photosensitivity and mental retardation MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hair defect with photosensitivity and mental retardation +MONDO:0022316 hair defect with photosensitivity and intellectual disability syndrome skos:closeMatch OMIM:234030 hair defect with photosensitivity and mental retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hair defect with photosensitivity and mental retardation MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia MONDO:0022394 cervical intraepithelial neoplasia skos:closeMatch NCIT:C3782 Cervical Intraepithelial Neoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cervical intraepithelial neoplasia MONDO:0022430 persistent fetal circulation syndrome skos:narrowMatch ICD10CM:P29.38 Other persistent fetal circulation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym persistent fetal circulation semapv:RegularExpressionReplacement @@ -31773,9 +31780,9 @@ MONDO:0022636 candida glabrata infection skos:exactMatch NCIT:C77179 Candida gla MONDO:0022749 non-neoplastic nevus skos:closeMatch NCIT:C3937 Non-Neoplastic Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-neoplastic nevus MONDO:0022749 non-neoplastic nevus skos:closeMatch NCIT:C3937 Non-Neoplastic Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label non-neoplastic nevus MONDO:0022754 chromosome 17p deletion skos:closeMatch NCIT:C36499 Loss of Chromosome 17p semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 17p semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022757 chromosome 20 trisomy skos:closeMatch NCIT:C36397 Trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trisomy type 20 mosaicism semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0022757 chromosome 20 trisomy skos:closeMatch Orphanet:1724 Mosaic trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0022757 chromosome 20 trisomy skos:closeMatch NCIT:C36397 Trisomy 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022759 trisomy 22 skos:exactMatch NCIT:C114765 Trisomy 22 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0022953 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency skos:exactMatch Orphanet:79101 Hyperprolinemia type 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym delta-1-pyrroline-5-carboxylate dehydrogenase deficiency MONDO:0022968 dextrocardia with situs inversus skos:closeMatch Orphanet:101063 Situs inversus totalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label situs inversus totalis @@ -31793,12 +31800,12 @@ MONDO:0023161 viral myocarditis skos:closeMatch NCIT:C128381 Viral Myocarditis s MONDO:0023161 viral myocarditis skos:closeMatch NCIT:C128381 Viral Myocarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral myocarditis MONDO:0023164 viral pericarditis skos:closeMatch NCIT:C128405 Viral Pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral pericarditis MONDO:0023164 viral pericarditis skos:closeMatch NCIT:C128405 Viral Pericarditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral pericarditis -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glosso-masticatory diplegia MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bilateral anterior opercular syndrome -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931412 +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537069 MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation -MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facio-pharyngo-glosso-masticatory diplegia +MONDO:0023171 foix chavany Marie syndrome skos:closeMatch Orphanet:2048 Foix-Chavany-Marie syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931412 MONDO:0023206 functional pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506060 Functioning neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label functioning neuroendocrine tumor of pancreas MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:closeMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented dermatofibrosarcoma protuberans MONDO:0023273 pigmented dermatofibrosarcoma protuberans skos:closeMatch NCIT:C9430 Pigmented Dermatofibrosarcoma Protuberans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented dermatofibrosarcoma protuberans @@ -31828,108 +31835,108 @@ MONDO:0023682 tympanic paraganglioma skos:closeMatch NCIT:C8428 Tympanic Paragan MONDO:0023682 tympanic paraganglioma skos:closeMatch NCIT:C8428 Tympanic Paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tympanic paraganglioma MONDO:0023820 Moebius axonal neuropathy hypogonadism skos:closeMatch Orphanet:2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931024 MONDO:0023880 WHIM syndrome skos:exactMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label whim syndrome -MONDO:0023910 Martsolf syndrome skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome MONDO:0023910 Martsolf syndrome skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome +MONDO:0023910 Martsolf syndrome skos:exactMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym martsolf syndrome MONDO:0024245 ductal eccrine adenocarcinoma skos:closeMatch NCIT:C54664 Hidradenocarcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hidradenocarcinoma MONDO:0024249 pityriasis lichenoides skos:closeMatch NCIT:C37871 Pityriasis Lichenoides et Varioliformis Acuta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pityriasis lichenoides et varioliformis acuta MONDO:0024251 Minamata disease skos:exactMatch Orphanet:1917 Fetal methylmercury syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym minamata disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athyreotic hypothyroidism MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hypoplasia +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, athyreotic MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, due to thyroid dysgenesis MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid, ectopic -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athyreotic hypothyroidism -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid dysgenesis MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid agenesis -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, athyreotic MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid hypoplasia +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyroid dysgenesis +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hypoplasia +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95713 Athyreosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95719 Thyroid hemiagenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95712 Thyroid ectopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218700 -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch Orphanet:95720 Thyroid hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid hypoplasia MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym resistance to thyrotropin -MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch NCIT:C85190 Thyroid Dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thyroid dysgenesis +MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 skos:closeMatch OMIM:609893 hypothyroidism, congenital, nongoitrous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin resistance MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome +MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs +MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:603154 PNN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane anomaly MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs -MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:126800 duane retraction syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retraction syndrome +MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duane syndrome MONDO:0024265 Duane syndrome type 1 skos:closeMatch NCIT:C84678 Duane Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label duane syndrome -MONDO:0024265 Duane syndrome type 1 skos:closeMatch OMIM:603154 PNN semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym drs -MONDO:0024265 Duane syndrome type 1 skos:closeMatch Orphanet:233 Duane retraction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126800 MONDO:0024266 patent ductus arteriosus 3 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617039 -MONDO:0024275 amebic dysentery skos:closeMatch NCIT:C34558 Amebic Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amebic colitis MONDO:0024275 amebic dysentery skos:closeMatch Orphanet:67 Amoebiasis due to Entamoeba histolytica semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label amoebiasis due to entamoeba histolytica +MONDO:0024275 amebic dysentery skos:closeMatch NCIT:C34558 Amebic Colitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amebic colitis MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal thrombocytopenia MONDO:0024277 neonatal thrombocytopenia skos:exactMatch NCIT:C98995 Neonatal Thrombocytopenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neonatal thrombocytopenia -MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbilirubinemia MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hyperbilirubinemia -MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular malformation +MONDO:0024288 hyperbilirubinemia skos:exactMatch NCIT:C27088 Hyperbilirubinemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hyperbilirubinemia MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label vascular malformation +MONDO:0024291 vascular malformation skos:exactMatch NCIT:C112117 Vascular Malformation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label vascular malformation MONDO:0024295 skin disease caused by bacterial infection skos:closeMatch NCIT:C157794 Bacterial Skin Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bacterial skin disorder semapv:RegularExpressionReplacement +MONDO:0024300 hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypophosphatemic rickets MONDO:0024300 hypophosphatemic rickets skos:exactMatch Orphanet:437 Hypophosphatemic rickets semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hypophosphatemic rickets -MONDO:0024300 hypophosphatemic rickets skos:closeMatch OMIM:307800 hypophosphatemic rickets, X-linked dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypophosphatemic vitamin d-resistant rickets MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ichthyosis vulgaris +MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis vulgaris MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ichthyosis vulgaris MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ichthyosis vulgaris -MONDO:0024304 ichthyosis vulgaris skos:exactMatch OMIM:146700 ichthyosis vulgaris semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ichthyosis vulgaris MONDO:0024305 acquired hyperprolactinemia skos:closeMatch NCIT:C113168 Hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia -MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperprolactinemia +MONDO:0024305 acquired hyperprolactinemia skos:closeMatch OMIM:615555 hyperprolactinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperprolactinemia MONDO:0024306 acquired lactic acidosis skos:closeMatch NCIT:C98969 Lactic Acidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lactic acidosis MONDO:0024307 prothrombin deficiency skos:exactMatch Orphanet:325 Congenital factor II deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prothrombin deficiency +MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch OMIM:264800 pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pseudoxanthoma elasticum -MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch NCIT:C85036 Pseudoxanthoma Elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum MONDO:0024308 pseudoxanthoma elasticum (inherited or acquired) skos:exactMatch Orphanet:758 Pseudoxanthoma elasticum semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pseudoxanthoma elasticum -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory radicular, autosomal recessive +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acroosteolysis, neurogenic MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morvan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, hereditary sensory radicular, autosomal recessive MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, progressive sensory, of children -MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acroosteolysis, neurogenic +MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch OMIM:201300 neuropathy, hereditary sensory and autonomic, iia 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuropathy, congenital sensory MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:970 Hereditary sensory and autonomic neuropathy type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:201300 MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A skos:closeMatch Orphanet:83467 Morvan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751540 MONDO:0024361 circadian rhythm sleep disorder skos:narrowMatch ICD10CM:G47.29 Other circadian rhythm sleep disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym circadian rhythm sleep disorder semapv:RegularExpressionReplacement MONDO:0024422 auditory perceptual disorders skos:closeMatch NCIT:C84575 Auditory Perceptual Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label auditory perceptual disorder -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acral dysostosis with facial and genital abnormalities +MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:3107 Autosomal dominant Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265205 MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal face syndrome -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180700 -MONDO:0024455 autosomal dominant Robinow syndrome 1 skos:closeMatch Orphanet:97360 Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow dwarfism -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:91483 Rieger anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glaucoma iridogoniodysplasia, familial MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label iris hypoplasia with glaucoma -MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:308500 iris hypoplasia with glaucoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma +MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch OMIM:601631 anterior segment dysgenesis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym iris hypoplasia with glaucoma MONDO:0024456 anterior segment dysgenesis 3 skos:closeMatch Orphanet:98978 Axenfeld anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601631 MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch Orphanet:35069 Infantile neuroaxonal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256600 MONDO:0024457 neurodegeneration with brain iron accumulation 2A skos:closeMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neuroaxonal dystrophy, infantile MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian failure, hypergonadotropic MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, with normal karyotype -MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx gonadal dysgenesis MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarian dysgenesis, hypergonadotropic, autosomal recessive +MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch OMIM:233300 ovarian dysgenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx gonadal dysgenesis MONDO:0024463 ovarian dysgenesis 1 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233300 -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 -MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 +MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:exactMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interstitial lung disorder due to surfactant protein c deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 skos:closeMatch Orphanet:440392 Interstitial lung disease due to SP-C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610913 MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial palsy, congenital, unilateral or bilateral MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601471 MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch Orphanet:306527 Isolated hereditary congenital facial paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1832284 -MONDO:0024466 facial paresis, hereditary congenital, 1 skos:closeMatch OMIM:601471 facial paresis, hereditary congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mobius syndrome type 2, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001907 MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10006045 -MONDO:0024472 boutonneuse fever skos:closeMatch Orphanet:83313 Boutonneuse fever semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0006060 MONDO:0024477 liver and intrahepatic bile duct neoplasm skos:closeMatch Orphanet:306636 Rare tumor of liver and intrahepatic biliary tract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0023903 MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C14161 Low Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label low grade MONDO:0024491 tumor grade 1, general grading system skos:exactMatch NCIT:C14171 Well Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label well differentiated @@ -31937,346 +31944,346 @@ MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C14162 MONDO:0024492 tumor grade 2, general grading system skos:exactMatch NCIT:C28083 Intermediate Grade semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intermediate grade MONDO:0024493 tumor grade 3, general grading system skos:exactMatch NCIT:C14167 Poorly Differentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label poorly differentiated MONDO:0024494 tumor grade 4, general grading system skos:exactMatch NCIT:C14176 Undifferentiated semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label undifferentiated -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioma of brain, familial MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym astrocytoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3795 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioma of brain, familial MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme -MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch OMIM:137800 glioma susceptibility 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym astrocytoma MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3795 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label subependymoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glioblastoma multiforme +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:360 Glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1621958 MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:301 Ependymal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0004114 MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3288 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oligodendroglioma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251627 Oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251639 Subependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0206725 -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C60781 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label astrocytoma +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:94 Astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 +MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251636 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0014474 MONDO:0024498 glioma susceptibility 1 skos:closeMatch NCIT:C3017 Ependymoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ependymoma -MONDO:0024498 glioma susceptibility 1 skos:closeMatch Orphanet:251630 Anaplastic oligodendroglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137800 MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch Orphanet:100092 Gastroenteropancreatic neuroendocrine neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gep-nen -MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch NCIT:C2915 Carcinoid Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumor MONDO:0024503 digestive system neuroendocrine neoplasm skos:exactMatch NCIT:C95404 Digestive System Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label digestive system neuroendocrine tumor +MONDO:0024503 digestive system neuroendocrine neoplasm skos:closeMatch NCIT:C2915 Carcinoid Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumor MONDO:0024504 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor skos:closeMatch Orphanet:506090 Serotonin-producing neuroendocrine tumor of pancreas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label serotonin-producing neuroendocrine tumor of pancreas -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with terminal transverse limb defects -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence defect of limbs, scalp, and skull -MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, congenital heart defect, and frontonasal cysts MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch Orphanet:974 Adams-Oliver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100300 -MONDO:0024507 aniridia 1 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym absence defect of limbs, scalp, and skull +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita with terminal transverse limb defects +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aplasia cutis congenita, congenital heart defect, and frontonasal cysts +MONDO:0024506 Adams-Oliver syndrome 1 skos:closeMatch OMIM:100300 adams-oliver syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital scalp defects with distal limb reduction anomalies MONDO:0024507 aniridia 1 skos:closeMatch OMIM:106210 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aniridia ii, formerly +MONDO:0024507 aniridia 1 skos:closeMatch Orphanet:250923 Isolated aniridia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106210 MONDO:0024507 aniridia 1 skos:closeMatch OMIM:106210 aniridia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract, congenital, with late-onset corneal dystrophy MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch Orphanet:166412 Hot water reflex epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 +MONDO:0024517 schwannomatosis 1 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schwannomatosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurilemmomatosis, congenital cutaneous MONDO:0024517 schwannomatosis 1 skos:closeMatch OMIM:162091 schwannomatosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwannomatosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024517 schwannomatosis 1 skos:closeMatch Orphanet:93921 Full schwannomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:162091 +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal agenesis +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch NCIT:C99041 Renal Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal adysplasia MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary renal aplasia +MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal aplasia -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal agenesis MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch NCIT:C99041 Renal Agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal agenesis -MONDO:0024519 renal hypodysplasia/aplasia 1 skos:closeMatch Orphanet:411709 Renal agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:191830 MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:1848 Renal agenesis, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 MONDO:0024520 renal hypodysplasia/aplasia 3 skos:closeMatch Orphanet:93100 Renal agenesis, unilateral semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617805 MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, abdominal aortic MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch OMIM:100070 aortic aneurysm, familial abdominal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal aortic aneurysm MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch Orphanet:86 Familial abdominal aortic aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:100070 MONDO:0024521 aortic aneurysm, familial abdominal, 1 skos:closeMatch NCIT:C27000 Abdominal Aortic Aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal aortic aneurysm -MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial cutaneous lichen MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen amyloidosis, familial +MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch OMIM:105250 amyloidosis, primary localized cutaneous, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, familial cutaneous lichen MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch Orphanet:353220 Familial primary localized cutaneous amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109730 -MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder semapv:RegularExpressionReplacement -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, bicuspid MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic stenosis, calcific +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, calcification of MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic stenosis, calcific +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve +MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, bicuspid +MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C78650 Aortic Valve Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder semapv:RegularExpressionReplacement +MONDO:0024523 aortic valve disease 1 skos:closeMatch Orphanet:402075 Familial bicuspid aortic valve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:109730 MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bicuspid aortic valve -MONDO:0024523 aortic valve disease 1 skos:closeMatch OMIM:109730 aortic valve disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve, calcification of +MONDO:0024523 aortic valve disease 1 skos:closeMatch NCIT:C128803 Bicuspid Aortic Valve semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bicuspid aortic valve MONDO:0024524 dyschromatosis universalis hereditaria 1 skos:closeMatch Orphanet:241 Dyschromatosis universalis hereditaria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127500 MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal fanconi syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi syndrome without cystinosis -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult fanconi syndrome -MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luder-sheldon syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi renotubular syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch NCIT:C4377 Adult Fanconi Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label adult fanconi syndrome MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:134600 -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome -MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym luder-sheldon syndrome +MONDO:0024525 Fanconi renotubular syndrome 1 skos:closeMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adult fanconi syndrome MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135500 +MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly +MONDO:0024526 Zimmermann-Laband syndrome 1 skos:closeMatch OMIM:135500 zimmermann-laband syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym laband syndrome MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch Orphanet:84090 Fibronectin glomerulopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137950 -MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glomerulopathy with giant fibrillar deposits +MONDO:0024527 glomerulopathy with fibronectin deposits 1 skos:closeMatch OMIM:137950 glomerulopathy with fibronectin deposits 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lobular glomerulopathy, familial MONDO:0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 skos:closeMatch Orphanet:254892 Autosomal dominant progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157640 +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, familial +MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157700 MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barlow syndrome -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, myxomatous type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym click-murmur syndrome -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral regurgitation, familial +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, myxomatous type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse, familial MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myxomatous valvular disorder, familial semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024529 MVP1 skos:closeMatch Orphanet:741 Familial mitral valve prolapse semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:157700 +MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitral valve prolapse type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024529 MVP1 skos:closeMatch OMIM:157700 mitral valve prolapse 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym floppy mitral valve -MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy -MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158810 -MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, benign congenital +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bethlem myopathy +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bethlem myopathy +MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, benign congenital, with contractures +MONDO:0024530 Bethlem myopathy 1 skos:closeMatch OMIM:158810 bethlem myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, benign congenital +MONDO:0024530 Bethlem myopathy 1 skos:exactMatch NCIT:C126688 Bethlem Myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bethlem myopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tubular aggregate myopathy MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch OMIM:160565 myopathy, tubular aggregate, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, tubular aggregate -MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubular aggregate myopathy MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160565 +MONDO:0024531 myopathy, tubular aggregate, 1 skos:closeMatch Orphanet:2593 Tubular aggregate myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tubular aggregate myopathy MONDO:0024532 otofaciocervical syndrome 1 skos:closeMatch Orphanet:2792 Otofaciocervical syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:166780 MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, fenfluramine-associated +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, dexfenfluramine-associated MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pph1 with hht -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch OMIM:178600 pulmonary hypertension, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary hypertension, primary, type 1, with hereditary hemorrhagic telangiectasia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 -MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch NCIT:C157552 Pulmonary Arterial Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:182090 Pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary arterial hypertension MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275766 Idiopathic pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3203102 -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:275777 Heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 +MONDO:0024533 pulmonary hypertension, primary, 1 skos:closeMatch Orphanet:422 Idiopathic/heritable pulmonary arterial hypertension semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178600 MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch OMIM:179850 dowling-degos disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures -MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179850 -MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reticular pigment anomaly of flexures +MONDO:0024534 Dowling-Degos disease 1 skos:closeMatch Orphanet:79145 Dowling-Degos disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3714534 MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch Orphanet:85191 Singleton-Merten dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:182250 -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NCIT:C123727 Familial Glucocorticoid Deficiency Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement +MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024535 Singleton-Merten syndrome 1 skos:closeMatch OMIM:182250 singleton-merten syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label singleton-merten syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202200 -MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal unresponsiveness to acth MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth resistance -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbar palsy, progressive, with sensorineural deafness -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontobulbar palsy with deafness -MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch OMIM:202200 glucocorticoid deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adrenal unresponsiveness to acth +MONDO:0024536 glucocorticoid deficiency 1 skos:closeMatch NCIT:C123727 Familial Glucocorticoid Deficiency Type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial glucocorticoid deficiency type 1 semapv:RegularExpressionReplacement MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch Orphanet:572543 RFVT2-related riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211530 +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontobulbar palsy with deafness +MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 skos:closeMatch OMIM:211530 brown-vialetto-van laere syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bulbar palsy, progressive, with sensorineural deafness +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fahr disorder, familial, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferrocalcinosis, cerebrovascular MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, autosomal dominant, adult-onset MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym striopallidodentate calcinosis, bilateral -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213600 -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fahr disorder, familial, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch OMIM:213600 basal ganglia calcification, idiopathic, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ferrocalcinosis, cerebrovascular -MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis +MONDO:0024538 basal ganglia calcification, idiopathic, 1 skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0393590 MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal dystrophy, central areolar +MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0024539 choroidal dystrophy, central areolar, 1 skos:closeMatch Orphanet:75377 Central areolar choroidal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215500 -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 -MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch Orphanet:90647 Jervell and Lange-Nielsen syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220400 MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardioauditory syndrome of jervell and lange-nielsen +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym surdo-cardiac syndrome +MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 skos:closeMatch OMIM:220400 jervell and lange-nielsen syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, congenital, and functional heart disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222470 MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym the syndrome MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, fatal infantile, with trichorrhexis nodosa MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch OMIM:222470 trichohepatoenteric syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea, syndromic -MONDO:0024541 trichohepatoenteric syndrome 1 skos:closeMatch Orphanet:84064 Syndromic diarrhea semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:222470 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysequilibrium syndrome +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq1 MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia and mental retardation with or without quadrupedal locomotion type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, congenital, and mental retardation, autosomal recessive MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar hypoplasia, vldlr-associated -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym camrq1 -MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch OMIM:224050 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysequilibrium syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dysequilibrium syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:224050 -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragilitas oculi with joint hyperextensibility -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229200 -MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgenesis mesodermalis corneae et sclerae MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal recessive -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dysgenesis mesodermalis corneae et sclerae +MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch Orphanet:90354 Brittle cornea syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229200 +MONDO:0024543 brittle cornea syndrome 1 skos:closeMatch OMIM:229200 brittle cornea syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragilitas oculi with joint hyperextensibility MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850808 +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi myopathy +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi myopathy -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 MONDO:0024545 Miyoshi muscular dystrophy 1 skos:exactMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch NCIT:C118846 Miyoshi Muscular Dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label miyoshi muscular dystrophy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial idiopathic osteoarthropathy of childhood +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch Orphanet:45448 Miyoshi myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254130 +MONDO:0024545 Miyoshi muscular dystrophy 1 skos:closeMatch OMIM:254130 miyoshi muscular dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, distal, late-onset, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pho, autosomal recessive MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cranioosteoarthropathy -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial idiopathic osteoarthropathy of childhood MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:2796 Pachydermoperiostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym touraine-solente-gole syndrome MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pachydermoperiostosis, autosomal recessive -MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:614441 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pdp, autosomal recessive -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 -MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:259100 +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch Orphanet:1525 Cranio-osteoarthropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy +MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 skos:closeMatch OMIM:259100 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym currarino idiopathic osteoarthropathy MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic hypoplasia, congenital +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch OMIM:260370 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pagen +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch Orphanet:2805 Partial pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratolysis exfoliativa congenita -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin peeling, familial continuous generalized -MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:817 Peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263543 Generalized peeling skin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 MONDO:0024548 peeling skin syndrome 1 skos:closeMatch Orphanet:263553 Peeling skin syndrome type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270300 +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deciduous skin +MONDO:0024548 peeling skin syndrome 1 skos:closeMatch OMIM:270300 peeling skin syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym skin peeling, familial continuous generalized +MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300345 MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, colobomatous, isolated type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch Orphanet:98938 Colobomatous microphthalmia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300345 +MONDO:0024549 microphthalmia with coloboma 1 skos:closeMatch OMIM:300345 microphthalmia, isolated, with coloboma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, isolated, with coloboma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmd +MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch OMIM:305620 frontometaphyseal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontometaphyseal dysplasia type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024550 frontometaphyseal dysplasia 1 skos:closeMatch Orphanet:1826 Frontometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305620 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebv infection, severe, susceptibility to +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus infection, familial fatal +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked progressive combined variable +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infectious mononucleosis, severe, susceptibility to MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlp -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epstein-barr virus infection, familial fatal -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ebv infection, severe, susceptibility to -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative syndrome, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duncan disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:2442 X-linked lymphoproliferative disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym purtilo syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308240 -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infectious mononucleosis, severe, susceptibility to -MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, x-linked progressive combined variable +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch Orphanet:98842 Lymphomatoid papulosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lyp +MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency skos:closeMatch OMIM:308240 lymphoproliferative syndrome, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphoproliferative disorder, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309801 MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch Orphanet:2556 Microphthalmia with linear skin defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym midas syndrome MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, syndromic type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia, dermal aplasia, and sclerocornea MONDO:0024552 linear skin defects with multiple congenital anomalies 1 skos:closeMatch OMIM:309801 linear skin defects with multiple congenital anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with linear skin defects +MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838103 +MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600462 MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch OMIM:600462 myopathy, lactic acidosis, and sideroblastic anemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial myopathy and sideroblastic anemia -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial myopathy and sideroblastic anemia -MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 skos:closeMatch Orphanet:2598 Mitochondrial myopathy and sideroblastic anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1838103 MONDO:0024554 D-2-hydroxyglutaric aciduria 1 skos:closeMatch Orphanet:79315 D-2-hydroxyglutaric aciduria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600721 MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym van der knaap disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604004 +MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lvm MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy with swelling and cysts -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch OMIM:604004 megalencephalic leukoencephalopathy with subcortical cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604004 -MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 skos:closeMatch Orphanet:2478 Megalencephalic leukoencephalopathy with subcortical cysts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vacuolating megalencephalic leukoencephalopathy with subcortical cysts -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci -MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with variable foci MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch Orphanet:98820 Familial focal epilepsy with variable foci semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604364 +MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, partial, with variable foci +MONDO:0024556 epilepsy, familial focal, with variable foci 1 skos:closeMatch OMIM:604364 epilepsy, familial focal, with variable foci 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1858391 +MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch OMIM:604391 ataxia-telangiectasia-like disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atld -MONDO:0024557 ataxia-telangiectasia-like disorder 1 skos:closeMatch Orphanet:251347 Ataxia-telangiectasia-like disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604391 -MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605432 MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rusat MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch OMIM:605432 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, congenital, with radioulnar synostosis -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, thoracic aortic -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia -MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 +MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 skos:closeMatch Orphanet:71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605432 MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erdheim cystic medial necrosis of aorta +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:229 Familial aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym annuloaortic ectasia +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic dissection, familial MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic aneurysm, familial thoracic -MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607086 +MONDO:0024559 aortic aneurysm, familial thoracic 1 skos:closeMatch OMIM:607086 aortic aneurysm, familial thoracic 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, thoracic aortic MONDO:0024560 PDA1 skos:closeMatch Orphanet:466729 Familial patent arterial duct semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607411 -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset, with or without choroidal neovascularization -MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitelliform macular dystrophy, adult-onset +MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024560 PDA1 skos:closeMatch OMIM:607411 patent ductus arteriosus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label patent ductus arteriosus type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch Orphanet:99000 Adult-onset foveomacular vitelliform dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608161 +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitelliform macular dystrophy, adult-onset +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset, with or without choroidal neovascularization +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym foveomacular dystrophy, adult-onset +MONDO:0024561 vitelliform macular dystrophy 3 skos:closeMatch OMIM:608161 macular dystrophy, vitelliform, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macular dystrophy, vitelliform, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome, congenital MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus rhythm, congenital absence of MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus bradycardia syndrome, familial -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus node disorder, familial, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024562 sick sinus syndrome 1 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608567 -MONDO:0024562 sick sinus syndrome 1 skos:closeMatch OMIM:608567 sick sinus syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sick sinus syndrome, congenital -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610551 -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc +MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024563 herpes simplex encephalitis, susceptibility to, 1 skos:closeMatch OMIM:610551 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coats plus syndrome -MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coats plus syndrome +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch OMIM:612199 cerebroretinal microangiopathy with calcifications and cysts 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crmcc +MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coats plus syndrome MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 skos:closeMatch Orphanet:313838 Coats plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612199 MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 skos:closeMatch Orphanet:247820 Ectodermal dysplasia-syndactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613573 -MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch Orphanet:165805 Familial mesial temporal lobe epilepsy with febrile seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614418 -MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihprf +MONDO:0024566 febrile seizures, familial, 11 skos:closeMatch OMIM:614418 febrile seizures, familial, 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, familial febrile, type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch Orphanet:371364 Hypotonia-speech impairment-severe cognitive delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615419 +MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 skos:closeMatch OMIM:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ihprf MONDO:0024568 infantile liver failure syndrome 1 skos:closeMatch Orphanet:370088 Acute infantile liver failure-multisystemic involvement syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615438 MONDO:0024569 optic atrophy 8 skos:closeMatch Orphanet:1215 Autosomal dominant optic atrophy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616648 MONDO:0024570 hyperparathyroidism 4 skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617343 -MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 -MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:746 Mitochondrial trifunctional protein deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NCIT:C68677 von Willebrand Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement -MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 +MONDO:0024573 familial hypertrophic cardiomyopathy skos:closeMatch Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d024741 MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014842 +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:exactMatch Orphanet:903 Von Willebrand disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement +MONDO:0024574 von Willebrand disease (hereditary or acquired) skos:closeMatch NCIT:C68677 von Willebrand Disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrand disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0024575 pregnancy disorder skos:closeMatch NCIT:C34941 Pregnancy Complication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pregnancy complication -MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with cataracts and intellectual disability MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label muscular dystrophy, congenital, with cataracts and intellectual disability +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, with cataracts and intellectual disability MONDO:0024623 otorhinolaryngologic disease skos:closeMatch NCIT:C118420 Otolaryngologic Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label otolaryngologic disorder semapv:RegularExpressionReplacement MONDO:0024636 inflammation of heart layer skos:exactMatch NCIT:C168128 Carditis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label carditis MONDO:0024637 malignant soft tissue neoplasm skos:exactMatch Orphanet:3394 Soft tissue sarcoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym malignant soft tissue tumor MONDO:0024664 hypertension, pregnancy-induced skos:closeMatch NCIT:C4371 Gestational Hypertension semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gestational hypertension MONDO:0024664 hypertension, pregnancy-induced skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypertension, pregnancy-induced -MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinoma tumor suppressor gene locus -MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinoma tumor suppressor gene locus -MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022498 MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d007340 -MONDO:0024677 pancreatic insulinoma skos:exactMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma +MONDO:0024677 pancreatic insulinoma skos:closeMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10022498 MONDO:0024677 pancreatic insulinoma skos:closeMatch NCIT:C65184 Islet Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label islet cell adenoma -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039106 +MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label insulinoma tumor suppressor gene locus +MONDO:0024677 pancreatic insulinoma skos:closeMatch OMIM:606960 insulinoma tumor suppressor gene locus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym insulinoma tumor suppressor gene locus +MONDO:0024677 pancreatic insulinoma skos:exactMatch Orphanet:97279 Insulinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label insulinoma MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type gct +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0039106 +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 +MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym diffuse-type giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch NCIT:C3402 Tenosynovial Giant Cell Tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tenosynovial giant cell tumor -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 -MONDO:0024686 tenosynovial giant cell tumor, diffuse type skos:closeMatch Orphanet:66627 Tenosynovial giant cell tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013586 MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301074 MONDO:0024954 larva migrans, visceral skos:closeMatch NCIT:C34758 Visceral Larva Migrans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visceral larva migrans MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0025102 monkey disease skos:exactMatch Orphanet:319254 Kyasanur forest disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym monkey disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834014 MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculopharyngodistal myopathy -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciooculolaryngopharyngeal myopathy with distal and respiratory involvement MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oculopharyngodistal myopathy +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faciooculolaryngopharyngeal myopathy with distal and respiratory involvement +MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch Orphanet:98897 Oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1834014 MONDO:0025303 anaplasmosis skos:exactMatch NCIT:C128425 Anaplasmosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label anaplasmosis MONDO:0025353 developmental and epileptic encephalopathy, 90 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301058 MONDO:0025354 spermatogenic failure, X-linked, 3 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301059 MONDO:0025382 sarcoma, avian skos:closeMatch NCIT:C17466 Rous Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rous sarcoma MONDO:0025419 furunculosis skos:closeMatch NCIT:C99087 Furuncle semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label furuncle MONDO:0025487 murine acquired immunodeficiency syndrome skos:closeMatch NCIT:C17375 Murine AIDS semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label murine aids -MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C134767 Bovine Lymphosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine lymphosarcoma MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C131469 Bovine Leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine leukemia +MONDO:0025489 enzootic bovine leukosis skos:closeMatch NCIT:C134767 Bovine Lymphosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bovine lymphosarcoma MONDO:0025511 inherited neuroendocrine tumor skos:closeMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genetic neuroendocrine tumor MONDO:0025514 livedoid vasculopathy skos:closeMatch Orphanet:542643 Livedoid vasculopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym livedo reticularis with summer ulcerations MONDO:0025667 limbal stem cell deficiency skos:closeMatch Orphanet:171673 Limbal stem cell deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1561989 @@ -32287,18 +32294,18 @@ MONDO:0025712 angioedema, hereditary, 4 skos:closeMatch Orphanet:91378 Hereditar MONDO:0025713 angioedema, hereditary, 7 skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619366 MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch OMIM:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym megacystis-microcolon-intestinal hypoperistalsis syndrome -MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026404 X inactivation, familial skewed, 1 skos:closeMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x inactivation, familial skewed, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026426 X inactivation, familial skewed, 2 skos:closeMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x inactivation, familial skewed, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301021 -MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder, x-linked, with craniofacial abnormalities MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mullegama-klein-martinez syndrome +MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder, x-linked, with craniofacial abnormalities MONDO:0026722 Mullegama-Klein-Martinez syndrome skos:closeMatch OMIM:301022 mullegama-klein-martinez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mullegama-klein-martinez syndrome MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch OMIM:301024 intellectual developmental disorder, X-linked 108 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, x-linked type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paganini-miozzo syndrome MONDO:0026724 Paganini-Miozzo syndrome skos:closeMatch OMIM:301025 paganini-miozzo syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paganini-miozzo syndrome MONDO:0026726 nephrotic syndrome, type 20 skos:closeMatch Orphanet:656 Genetic steroid-resistant nephrotic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301028 @@ -32306,20 +32313,20 @@ MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch Orphanet:528084 Non-specifi MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shukla-vernon syndrome MONDO:0026727 Shukla-Vernon syndrome skos:closeMatch OMIM:301029 shukla-vernon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shukla-vernon syndrome MONDO:0026730 Basilicata-Akhtar syndrome skos:closeMatch OMIM:301032 basilicata-akhtar syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 skos:closeMatch OMIM:301033 hypothyroidism, congenital, nongoitrous, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch OMIM:301035 hypothyroidism, congenital, nongoitrous, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type skos:closeMatch OMIM:301039 intellectual developmental disorder, x-linked, syndromic, hackmann-di donato iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, with marfanoid habitus, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wieacker-wolff syndrome, female-restricted MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label wieacker-wolff syndrome, female-restricted -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026762 Wieacker-Wolff syndrome, female-restricted skos:closeMatch OMIM:301041 wieacker-wolff syndrome, female-restricted semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wieacker-wolff syndrome, female-restricted MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:220386 Semilobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch Orphanet:93925 Alobar holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 +MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch OMIM:301043 holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 13, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026765 congenital disorder of glycosylation, type IIr skos:closeMatch OMIM:301045 congenital disorder of glycosylation, iia iir semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cdg iir -MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 74, covid19-related, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory insufficiency due to sars-cov-2 viral infection MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked skos:closeMatch OMIM:301051 immunodeficiency 74, covid19-related, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tlr7 deficiency MONDO:0026777 VEXAS syndrome skos:closeMatch Orphanet:596753 VEXAS syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301054 @@ -32327,22 +32334,22 @@ MONDO:0027026 Buschke Lowenstein tumor skos:closeMatch NCIT:C6371 Giant Condylom MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 skos:exactMatch NCIT:C186788 Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 MONDO:0027353 autosomal recessive dyskeratosis congenita 4 skos:exactMatch OMIM:613989 dyskeratosis congenita, autosomal dominant 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dyskeratosis congenita, autosomal recessive type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 +MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 +MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0795833 MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:261494 Kleefstra syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 -MONDO:0027407 Kleefstra syndrome 1 skos:closeMatch Orphanet:96147 Kleefstra syndrome due to 9q34 microdeletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610253 MONDO:0027451 autosomal recessive cutis laxa type 2D skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617403 MONDO:0027462 autosomal recessive cutis laxa type 2C skos:closeMatch Orphanet:357074 Autosomal recessive cutis laxa type 2, classic type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617402 MONDO:0027652 5-fluorouracil toxicity skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 5-fluorouracil toxicity -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureteropelvic junction obstruction +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis due to pujo MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multicystic renal dysplasia, bilateral MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pelviureteric junction obstruction -MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydronephrosis due to pujo +MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch OMIM:143400 congenital anomalies of kidney and urinary tract 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ureteropelvic junction obstruction MONDO:0027676 congenital anomalies of kidney and urinary tract 2 skos:closeMatch NCIT:C99007 Pelviureteric Junction Obstruction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pelviureteric junction obstruction -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617839 MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch OMIM:617839 amyotrophic lateral sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:closeMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0027694 amyotrophic lateral sclerosis type 23 skos:exactMatch NCIT:C178411 Amyotrophic Lateral Sclerosis 23 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label amyotrophic lateral sclerosis type 23 semapv:RegularExpressionReplacement MONDO:0029000 poisoning skos:closeMatch NCIT:C28283 Intoxication semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intoxication MONDO:0029000 poisoning skos:exactMatch NCIT:C34933 Poisoning semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label poisoning @@ -32350,13 +32357,13 @@ MONDO:0029130 polydactyly, postaxial, type A8 skos:closeMatch Orphanet:289 Ellis MONDO:0029132 Liddle syndrome 3 skos:closeMatch Orphanet:526 Liddle syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618126 MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 skos:closeMatch Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618129 MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, limb-girdle, autosomal recessive type 24 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch OMIM:618135 muscular dystrophy-dystroglycanopathy (limb-girdle), iia c, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch Orphanet:899 Walker-Warburg syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 skos:closeMatch Orphanet:258 Laminin subunit alpha 2-related congenital muscular dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618138 MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 -MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch OMIM:618140 deafness, autosomal dominant 74 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 74 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch Orphanet:2382 Lennox-Gastaut syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch OMIM:618145 deafness, autosomal recessive 111 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 111 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -32364,28 +32371,28 @@ MONDO:0029142 hearing loss, autosomal recessive 111 skos:closeMatch Orphanet:906 MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypertelorism and distinctive facies MONDO:0029143 intellectual developmental disorder with hypertelorism and distinctive facies skos:closeMatch OMIM:618147 intellectual developmental disorder with hypertelorism and distinctive facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 14q32 deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency -MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mto deficiency MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis due to methanethiol oxidase deficiency +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mto deficiency MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extraoral halitosis with dimethylsulfoxiduria MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label extraoral halitosis due to methanethiol oxidase deficiency +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch Orphanet:562538 Autosomal recessive extra-oral halitosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618148 +MONDO:0029144 extraoral halitosis due to methanethiol oxidase deficiency skos:closeMatch OMIM:618148 extraoral halitosis due to methanethiol oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methanethiol oxidase deficiency MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym orofacial cleft type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029145 orofacial cleft 8 skos:closeMatch OMIM:618149 orofacial cleft 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft type 51p with or without cleft palate, nonsyndromic, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029145 orofacial cleft 8 skos:closeMatch Orphanet:199306 Cleft lip/palate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618149 +MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029147 spermatogenic failure 33 skos:closeMatch OMIM:618152 spermatogenic failure 33 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0029147 spermatogenic failure 33 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618152 -MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0029148 spermatogenic failure 34 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618153 MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0029148 spermatogenic failure 34 skos:closeMatch OMIM:618153 spermatogenic failure 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 34 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030006 combined oxidative phosphorylation deficiency 40 skos:closeMatch Orphanet:570491 QRSL1-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618835 MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch Orphanet:2850 Alopecia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618840 MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia skos:closeMatch Orphanet:478 Kallmann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618841 -MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome +MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diets-jongmans syndrome MONDO:0030012 Diets-Jongmans syndrome skos:exactMatch Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym diets-jongmans syndrome MONDO:0030019 anauxetic dysplasia 3 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618853 MONDO:0030020 combined oxidative phosphorylation deficiency 44 skos:closeMatch Orphanet:166105 FASTKD2-related infantile mitochondrial encephalomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618855 @@ -32393,8 +32400,8 @@ MONDO:0030051 intellectual developmental disorder with autistic features and lan MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618910 MONDO:0030056 Fanconi renotubular syndrome 5 skos:closeMatch Orphanet:3337 Primary Fanconi renotubular syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618913 MONDO:0030057 neurodevelopmental, jaw, eye, and digital syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618914 -MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch OMIM:618915 deafness, autosomal dominant 77 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 77 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618916 MONDO:0030061 periventricular nodular heterotopia 9 skos:closeMatch Orphanet:98892 Periventricular nodular heterotopia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618918 @@ -32405,8 +32412,8 @@ MONDO:0030067 Treacher Collins syndrome 4 skos:closeMatch Orphanet:861 Treacher- MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618948 MONDO:0030071 retinitis pigmentosa 89 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618955 MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618959 -MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitchell syndrome MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitchell syndrome +MONDO:0030073 Mitchell syndrome skos:exactMatch Orphanet:631248 Mitchell Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitchell syndrome MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy skos:closeMatch Orphanet:589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618961 MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618845 MONDO:0030087 diabetes mellitus, permanent neonatal 2 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618856 @@ -32425,9 +32432,9 @@ MONDO:0030300 cardiomyopathy, dilated, 2D skos:closeMatch Orphanet:154 Familial MONDO:0030307 spermatogenic failure 55 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619380 MONDO:0030309 Leber hereditary optic neuropathy, autosomal recessive skos:closeMatch Orphanet:104 Leber hereditary optic neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619382 MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 skos:closeMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:closeMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:closeMatch OMIM:619398 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive skos:closeMatch OMIM:612567 inflammatory bowel disease 25, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, early-onset, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619431 MONDO:0030330 cardiomyopathy, familial restrictive, 6 skos:closeMatch Orphanet:75249 Familial isolated restrictive cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619433 MONDO:0030331 Ritscher-Schinzel syndrome 4 skos:closeMatch Orphanet:7 3C syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619435 @@ -32460,8 +32467,8 @@ MONDO:0030471 Galloway-Mowat syndrome 9 skos:closeMatch Orphanet:2065 Galloway-M MONDO:0030472 developmental and epileptic encephalopathy 98 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619605 MONDO:0030473 developmental and epileptic encephalopathy 99 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619606 MONDO:0030476 Galloway-Mowat syndrome 10 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619609 -MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch OMIM:619615 deafness, autosomal recessive 119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 119 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030480 hearing loss, autosomal recessive 119 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619615 MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe skos:closeMatch Orphanet:79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619555 MONDO:0030492 spermatogenic failure 59 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619645 @@ -32482,12 +32489,12 @@ MONDO:0030531 spermatogenic failure 65 skos:closeMatch Orphanet:399805 Male infe MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive skos:closeMatch Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619599 MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619482 MONDO:0030539 central hypoventilation syndrome, congenital, 3 skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619483 -MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch OMIM:619500 deafness, autosomal dominant 81 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 81 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 MONDO:0030608 interstitial lung disease 1 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619611 -MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome +MONDO:0030639 Teebi hypertelorism syndrome skos:exactMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym teebi hypertelorism syndrome MONDO:0030669 gastrointestinal defects and immunodeficiency syndrome 2 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619708 MONDO:0030679 Noonan syndrome 14 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619745 MONDO:0030680 cardiomyopathy, dilated, 2F skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619747 @@ -32499,16 +32506,16 @@ MONDO:0030712 oculopharyngodistal myopathy 4 skos:closeMatch Orphanet:98897 Ocul MONDO:0030714 osteogenesis imperfecta, IIA 22 skos:closeMatch Orphanet:666 Osteogenesis imperfecta semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619795 MONDO:0030716 spermatogenic failure 66 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619799 MONDO:0030718 spermatogenic failure 67 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619803 -MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch OMIM:619804 deafness, autosomal dominant 82 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch OMIM:619804 deafness, autosomal dominant 82 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch OMIM:619804 deafness, autosomal dominant 82 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 82 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030719 hearing loss, autosomal dominant 82 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619804 MONDO:0030721 spermatogenic failure 68 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619805 -MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch OMIM:619808 deafness, autosomal dominant 83 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619810 -MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030723 hearing loss, autosomal dominant 83 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619808 MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch OMIM:619810 deafness, autosomal dominant 84 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030724 hearing loss, autosomal dominant 84 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619810 MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619813 MONDO:0030727 developmental and epileptic encephalopathy 101 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619814 MONDO:0030731 aortic aneurysm, familial thoracic 12 skos:closeMatch Orphanet:91387 Familial thoracic aortic aneurysm and aortic dissection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619825 @@ -32524,8 +32531,8 @@ MONDO:0030781 restrictive dermopathy 2 skos:closeMatch Orphanet:1662 Restrictive MONDO:0030797 retinitis pigmentosa 93 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619845 MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619849 MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 skos:closeMatch Orphanet:495930 Familial monosomy 7 syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619041 -MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement +MONDO:0030805 spinocerebellar ataxia 49 skos:exactMatch Orphanet:631106 Spinocerebellar ataxia type 49 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 49 semapv:RegularExpressionReplacement MONDO:0030809 spermatogenic failure 72 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619867 MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619868 MONDO:0030818 spermatogenic failure 73 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619878 @@ -32539,8 +32546,8 @@ MONDO:0030841 mismatch repair cancer syndrome 3 skos:closeMatch Orphanet:252202 MONDO:0030843 mismatch repair cancer syndrome 4 skos:closeMatch Orphanet:252202 Constitutional mismatch repair deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619101 MONDO:0030844 spermatogenic failure 47 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619102 MONDO:0030846 spermatogenic failure 48 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619108 -MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 +MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 MONDO:0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619099 MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619115 MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 skos:closeMatch Orphanet:230857 Ehlers-Danlos/osteogenesis imperfecta syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619120 @@ -32559,8 +32566,8 @@ MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 sko MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619141 MONDO:0030878 Kaya-Barakat-Masson syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619125 MONDO:0030881 developmental and epileptic encephalopathy 102 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619881 -MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 +MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia skos:closeMatch Orphanet:275872 Frontotemporal dementia with motor neuron disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619133 MONDO:0030886 holoprosencephaly 14 skos:closeMatch Orphanet:2162 Holoprosencephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619895 MONDO:0030887 cardiomyopathy, dilated, 2G skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619897 MONDO:0030894 AMED syndrome, digenic skos:closeMatch Orphanet:611216 Aplastic anemia-intellectual disability-dwarfism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619151 @@ -32572,37 +32579,37 @@ MONDO:0030899 oculocutaneous albinism type 8 skos:closeMatch Orphanet:597733 Ocu MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619170 MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 MONDO:0030903 Hermansky-Pudlak syndrome 11 skos:closeMatch Orphanet:79430 Hermansky-Pudlak syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619172 -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619174 +MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030905 hearing loss, autosomal recessive 117 skos:closeMatch OMIM:619174 deafness, autosomal recessive 117 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 117 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030907 intellectual disability, X-linked 106 skos:closeMatch OMIM:300997 intellectual developmental disorder, X-linked 106 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300998 -MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxs35 +MONDO:0030908 intellectual disability, X-linked, syndromic, 35 skos:closeMatch OMIM:300998 intellectual developmental disorder, x-linked, syndromic, 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked, syndromic, type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301008 MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type skos:closeMatch OMIM:301008 intellectual developmental disorder, x-linked, syndromic, houge iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxshg -MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd45 MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030910 intellectual disability, autosomal dominant 45 skos:closeMatch OMIM:617600 intellectual developmental disorder, autosomal dominant 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd45 MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd46 -MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617635 +MONDO:0030911 intellectual disability, autosomal dominant 46 skos:closeMatch OMIM:617601 intellectual developmental disorder, autosomal dominant 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd47 MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch OMIM:617635 intellectual developmental disorder, autosomal dominant 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030912 intellectual disability, autosomal dominant 47 skos:closeMatch Orphanet:502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617635 MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd48 MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch OMIM:617751 intellectual developmental disorder, autosomal dominant 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom MONDO:0030913 intellectual disability, autosomal dominant 48 skos:closeMatch Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617751 +MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617752 MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931130 MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch OMIM:617752 clark-baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym baraitser syndrome -MONDO:0030914 Clark-Baraitser syndrome skos:closeMatch Orphanet:600731 Clark-Baraitser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617752 -MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt61 MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt61 MONDO:0030915 intellectual disability, autosomal recessive 61 skos:closeMatch OMIM:617773 intellectual developmental disorder, autosomal recessive 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alwadei syndrome MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd50 MONDO:0030916 intellectual disability, autosomal dominant 50 skos:closeMatch OMIM:617787 intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd51 +MONDO:0030917 intellectual disability, autosomal dominant 51 skos:closeMatch OMIM:617788 intellectual developmental disorder, autosomal dominant 51 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 51 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617796 MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd52 MONDO:0030918 intellectual disability, autosomal dominant 52 skos:closeMatch OMIM:617796 intellectual developmental disorder, autosomal dominant 52 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 52 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -32613,12 +32620,12 @@ MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMI MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch OMIM:617799 intellectual developmental disorder, autosomal dominant 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 54 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030920 intellectual disability, autosomal dominant 54 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617799 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617831 -MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd55 MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 55, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures skos:closeMatch OMIM:617831 intellectual developmental disorder, autosomal dominant 55, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd55 +MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd56 MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch OMIM:617854 intellectual developmental disorder, autosomal dominant 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 56 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030922 intellectual disability, autosomal dominant 56 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617854 MONDO:0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619175 MONDO:0030925 oocyte maturation defect 10 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619176 @@ -32641,8 +32648,8 @@ MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:c MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay skos:closeMatch Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619220 MONDO:0030972 spermatogenic failure 74 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619937 MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619224 -MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 +MONDO:0030975 premature ovarian failure 20 skos:closeMatch Orphanet:95710 Non-acquired premature ovarian failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619938 MONDO:0030977 neuropathy, hereditary motor, with myopathic features skos:closeMatch Orphanet:314485 Young adult-onset distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619216 MONDO:0030978 endove syndrome, limb-only type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619217 MONDO:0030979 endove syndrome, limb-brain type skos:closeMatch Orphanet:611223 EN1-related dorsoventral syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619218 @@ -32654,10 +32661,10 @@ MONDO:0030994 neurodevelopmental disorder with or without autism or seizures sko MONDO:0030995 global developmental delay with speech and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619243 MONDO:0030996 bleeding disorder, platelet-type, 24 skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619271 MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619272 +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 +MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dfna80 -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch OMIM:619274 deafness, autosomal dominant 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 MONDO:0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619244 MONDO:0031002 Baralle-Macken syndrome skos:exactMatch Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym baralle-macken syndrome MONDO:0031003 hypercholanemia, familial, 2 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619256 @@ -32666,12 +32673,12 @@ MONDO:0031008 nephrotic syndrome, type 24 skos:closeMatch Orphanet:567548 Idiopa MONDO:0031009 Glanzmann thrombasthenia 2 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619267 MONDO:0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619264 MONDO:0031021 developmental and epileptic encephalopathy 104 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619970 -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations -MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral capillary malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angioma, familial MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebral cavernous malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebral cavernous malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations +MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous malformations of cns and retina MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch OMIM:116860 cerebral cavernous malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cavernous angiomatous malformations MONDO:0031037 famililal cerebral cavernous malformations skos:closeMatch Orphanet:221061 Familial cerebral cavernous malformation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931263 MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 skos:closeMatch Orphanet:172 Progressive familial intrahepatic cholestasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620010 @@ -32684,49 +32691,50 @@ MONDO:0031057 dyskeratosis congenita, digenic skos:closeMatch Orphanet:1775 Dysk MONDO:0031062 polycystic kidney disease 7 skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620056 MONDO:0031169 odontochondrodysplasia skos:exactMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label odontochondrodysplasia MONDO:0031213 restrictive dermopathy skos:exactMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein iib-iiia deficiency MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch Orphanet:849 Glanzmann thrombasthenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273800 +MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet glycoprotein iib-iiia deficiency +MONDO:0031332 Glanzmann thrombasthenia 1 skos:closeMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital disorder of deglycosylation MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch NCIT:C126746 Congenital Disorder of Deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation -MONDO:0031421 Olmsted syndrome skos:exactMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome -MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843139 +MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609071 +MONDO:0031421 Olmsted syndrome skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607748 +MONDO:0031446 hypercholanemia, familial 1 skos:closeMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1843139 MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 skos:closeMatch Orphanet:306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614231 -MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618009 MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 61 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement +MONDO:0032485 intellectual developmental disorder 61 skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618009 MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement -MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618154 +MONDO:0032526 spinocerebellar ataxia 48 skos:exactMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement +MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch OMIM:618093 spinocerebellar ataxia 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hennekam lymphangiectasia-lymphedema syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 skos:closeMatch Orphanet:2136 Hennekam syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618154 MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ophthalmoplegia, external, with rib and vertebral anomalies MONDO:0032565 ophthalmoplegia, external, with rib and vertebral anomalies skos:closeMatch OMIM:618155 ophthalmoplegia, external, with rib and vertebral anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ophthalmoplegia, external, with rib and vertebral anomalies +MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squalene synthase deficiency MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with low cholesterol and abnormal urine organic acids MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squalene synthase deficiency -MONDO:0032566 squalene synthase deficiency skos:closeMatch OMIM:618156 squalene synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym squalene synthase deficiency -MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618157 MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch OMIM:618157 isolated growth hormone deficiency, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dwarfism of sindh +MONDO:0032567 isolated growth hormone deficiency, type 4 skos:closeMatch Orphanet:231671 Isolated growth hormone deficiency type IB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618157 MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:0032568 intellectual developmental disorder with macrocephaly, seizures, and speech delay skos:closeMatch OMIM:618158 intellectual developmental disorder with macrocephaly, seizures, and speech delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with macrocephaly, seizures, and speech delay MONDO:0032569 isolated growth hormone deficiency, type 5 skos:closeMatch Orphanet:231662 Isolated growth hormone deficiency type IA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618160 MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032570 Joubert syndrome 35 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618161 -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay -MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay +MONDO:0032570 Joubert syndrome 35 skos:closeMatch OMIM:618161 joubert syndrome 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac, facial, and digital anomalies with developmental delay +MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch OMIM:618164 cardiac, facial, and digital anomalies with developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay +MONDO:0032572 cardiac, facial, and digital anomalies with developmental delay skos:closeMatch NCIT:C179868 Cardiac, Facial, and Digital Anomalies with Developmental Delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac, facial, and digital anomalies with developmental delay MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032573 bone marrow failure syndrome 5 skos:closeMatch OMIM:618165 bone marrow failure syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bone marrow failure syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondrodysplasia, brachydactyly, and overlapping malformed digits MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteochondrodysplasia, brachydactyly, and overlapping malformed digits -MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits skos:closeMatch OMIM:618167 osteochondrodysplasia, brachydactyly, and overlapping malformed digits semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondrodysplasia, brachydactyly, and overlapping malformed digits MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032575 diarrhea 9 skos:closeMatch OMIM:618168 diarrhea 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch OMIM:618173 retinitis pigmentosa 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 83 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032577 retinitis pigmentosa 83 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618173 MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 skos:closeMatch OMIM:618174 cortical dysplasia, complex, with other brain malformations 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032579 warburg-cinotti syndrome skos:closeMatch OMIM:618175 warburg-cinotti syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym warburg-cinotti syndrome @@ -32745,25 +32753,25 @@ MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesi MONDO:0032590 ovarian dysgenesis 8 skos:closeMatch OMIM:618187 ovarian dysgenesis 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarian dysgenesis type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032591 hyperparathyroidism, transient neonatal skos:closeMatch Orphanet:417 Neonatal severe primary hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618188 MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch Orphanet:154 Familial isolated dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618189 -MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032592 cardiomyopathy, dilated, 2c skos:closeMatch OMIM:618189 cardiomyopathy, dilated, 2c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiomyopathy, dilated, type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618195 MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder and retinitis pigmentosa MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch OMIM:618195 intellectual developmental disorder and retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder and retinitis pigmentosa -MONDO:0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618195 -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618197 -MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch OMIM:618197 myasthenic syndrome, congenital, 23, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 23, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618197 MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch OMIM:618198 myasthenic syndrome, congenital, 24, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 24, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618198 MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 +MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 15a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032599 immunodeficiency 15a skos:closeMatch OMIM:618204 immunodeficiency 15a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 15a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032599 immunodeficiency 15a skos:closeMatch Orphanet:397787 Severe combined immunodeficiency due to IKK2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618204 -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-campeau syndrome -MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618205 +MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch Orphanet:599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome +MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-campeau syndrome +MONDO:0032600 Snijders Blok-Campeau syndrome skos:closeMatch OMIM:618205 snijders blok-campeau syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-campeau syndrome MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch OMIM:618213 inflammatory bowel disease, immunodeficiency, and encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym inflammatory bowel disorder, immunodeficiency, and encephalopathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032601 inflammatory bowel disease, immunodeficiency, and encephalopathy skos:closeMatch Orphanet:565788 Infantile inflammatory bowel disease with neurological involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618213 @@ -32771,18 +32779,18 @@ MONDO:0032603 polydactyly, postaxial, type A9 skos:closeMatch Orphanet:93334 Pos MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch OMIM:618220 retinitis pigmentosa 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 84 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032604 retinitis pigmentosa 84 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618220 -MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch OMIM:618221 intellectual developmental disorder, autosomal recessive 66 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 66 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vertebral anomalies and variable endocrine and t-cell dysfunction MONDO:0032607 vertebral anomalies and variable endocrine and T-cell dysfunction skos:closeMatch OMIM:618223 vertebral anomalies and variable endocrine and t-cell dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vertebral anomalies and variable endocrine and t-cell dysfunction -MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 -MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 +MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 -MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 +MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618225 MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 +MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618226 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:70474 Leigh syndrome with cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618228 @@ -32790,20 +32798,20 @@ MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618229 MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618230 -MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618231 MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch OMIM:618231 epidermodysplasia verruciformis, susceptibility to, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618231 MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618232 -MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 +MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618233 MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618234 MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618235 MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618236 MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618237 MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618238 MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618239 -MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 +MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618240 MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618241 MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618241 MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618242 @@ -32820,116 +32828,116 @@ MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatc MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch OMIM:618254 ciliary dyskinesia, primary, 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 39, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618257 MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch OMIM:618257 deafness, autosomal recessive 112 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 112 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032639 hearing loss, autosomal recessive 112 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618257 -MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032641 mirror movements 4 skos:closeMatch OMIM:618264 mirror movements 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mirror movements type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032641 mirror movements 4 skos:closeMatch Orphanet:238722 Familial congenital mirror movements semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618264 -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 -MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch OMIM:618265 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development +MONDO:0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development skos:closeMatch Orphanet:565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618265 MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch Orphanet:611256 Pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618266 -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 -MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch OMIM:618267 epidermodysplasia verruciformis, susceptibility to, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618267 MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichohepatoneurodevelopmental syndrome MONDO:0032645 trichohepatoneurodevelopmental syndrome skos:closeMatch OMIM:618268 trichohepatoneurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichohepatoneurodevelopmental syndrome MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital anomalies of kidney and urinary tract type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032646 congenital anomalies of kidney and urinary tract 3 skos:closeMatch OMIM:618270 congenital anomalies of kidney and urinary tract 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital anomalies of kidney and urinary tract type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations +MONDO:0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations skos:closeMatch OMIM:618273 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MONDO:0032649 hypotrichosis 14 skos:closeMatch Orphanet:55654 Hypotrichosis simplex semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618275 -MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with cerebellar atrophy +MONDO:0032649 hypotrichosis 14 skos:closeMatch OMIM:618275 hypotrichosis 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypotrichosis type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with cerebellar atrophy +MONDO:0032650 neurodegeneration, childhood-onset, with cerebellar atrophy skos:closeMatch OMIM:618276 neurodegeneration, childhood-onset, with cerebellar atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with cerebellar atrophy MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fibrosis, neurodegeneration, and cerebral angiomatosis MONDO:0032651 fibrosis, neurodegeneration, and cerebral angiomatosis skos:closeMatch OMIM:618278 fibrosis, neurodegeneration, and cerebral angiomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrosis, neurodegeneration, and cerebral angiomatosis -MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-urogenital syndrome MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cardiac-urogenital syndrome +MONDO:0032653 cardiac-urogenital syndrome skos:closeMatch OMIM:618280 cardiac-urogenital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cardiac-urogenital syndrome MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive skos:closeMatch OMIM:618282 hyper-ige recurrent infection syndrome 3, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyper-ige recurrent infection syndrome type 3, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visual impairment and progressive phthisis bulbi MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym visual impairment and progressive phthisis bulbi +MONDO:0032655 visual impairment and progressive phthisis bulbi skos:closeMatch OMIM:618283 visual impairment and progressive phthisis bulbi semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label visual impairment and progressive phthisis bulbi MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum MONDO:0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skos:closeMatch OMIM:618284 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum -MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly, acquired, with impaired intellectual development -MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with impaired intellectual development MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with mental retardation +MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macrocephaly, acquired, with impaired intellectual development +MONDO:0032658 macrocephaly, acquired, with impaired intellectual development skos:closeMatch OMIM:618286 macrocephaly, acquired, with impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macrocephaly, acquired, with impaired intellectual development MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucocutaneous ulceration, chronic MONDO:0032659 mucocutaneous ulceration, chronic skos:closeMatch OMIM:618287 mucocutaneous ulceration, chronic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucocutaneous ulceration, chronic MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant skos:closeMatch OMIM:618291 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinal muscular atrophy, lower extremity-predominant, type 2b, prenatal onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618292 -MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +MONDO:0032661 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia skos:closeMatch OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch OMIM:618295 intellectual developmental disorder, autosomal recessive 67 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 67 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 +MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch OMIM:618300 ciliary dyskinesia, primary, 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch OMIM:618302 intellectual developmental disorder, autosomal recessive 68 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 68 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch OMIM:618307 epidermodysplasia verruciformis, susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch NCIT:C176608 Epidermodysplasia Verruciformis, Susceptibility to, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 skos:closeMatch Orphanet:324294 T-cell immunodeficiency with epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618307 MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch OMIM:618309 epidermodysplasia verruciformis, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidermodysplasia verruciformis, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 skos:closeMatch Orphanet:302 Epidermodysplasia verruciformis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618309 MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch OMIM:618310 diamond-blackfan anemia 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032668 Diamond-Blackfan anemia 18 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618310 -MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch OMIM:618312 diamond-blackfan anemia 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032669 Diamond-Blackfan anemia 19 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618312 MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618313 MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diamond-blackfan anemia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032670 Diamond-Blackfan anemia 20 skos:closeMatch OMIM:618313 diamond-blackfan anemia 20 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diamond-blackfan anemia type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with cardiac defects and dysmorphic facies -MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618316 MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch OMIM:618316 intellectual developmental disorder with cardiac defects and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with cardiac defects and dysmorphic facies +MONDO:0032672 intellectual developmental disorder with cardiac defects and dysmorphic facies skos:closeMatch Orphanet:562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618316 MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive skos:closeMatch OMIM:618317 basal ganglia calcification, idiopathic, 7, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 7, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618323 -MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 25, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myasthenic syndrome, congenital, type 25, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch OMIM:618323 myasthenic syndrome, congenital, 25, presynaptic semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myasthenic syndrome, congenital, type 25, presynaptic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic skos:closeMatch Orphanet:98914 Presynaptic congenital myasthenic syndromes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618323 +MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 9 with complex brainstem malformation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch OMIM:618325 lissencephaly 9 with complex brainstem malformation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lissencephaly type 9 with complex brainstem malformation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032677 lissencephaly 9 with complex brainstem malformation skos:closeMatch Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618325 MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch Orphanet:557064 Neonatal epileptic encephalopathy due to glutaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618328 MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch OMIM:618328 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032679 combined oxidative phosphorylation deficiency 37 skos:closeMatch OMIM:618329 combined oxidative phosphorylation deficiency 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay with or without impaired intellectual development MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay with or without impaired intellectual development +MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch OMIM:618330 global developmental delay with or without impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay with or without impaired intellectual development MONDO:0032680 global developmental delay with or without impaired intellectual development skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618330 -MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with episodic rhabdomyolysis -MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency -MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +MONDO:0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis skos:closeMatch OMIM:618331 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with episodic rhabdomyolysis MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagei syndrome -MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development +MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +MONDO:0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency skos:closeMatch OMIM:618336 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development -MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development skos:closeMatch OMIM:618339 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 +MONDO:0032686 spermatogenic failure 35 skos:closeMatch OMIM:618341 spermatogenic failure 35 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 35 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch OMIM:618342 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria with or without vascular-type ehlers-danlos syndrome +MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polymicrogyria with or without vascular-type ehlers-danlos syndrome +MONDO:0032688 polymicrogyria with or without vascular-type ehlers-danlos syndrome skos:closeMatch OMIM:618343 polymicrogyria with or without vascular-type ehlers-danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polymicrogyria with or without vascular-type ehlers-danlos syndrome MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618345 -MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations +MONDO:0032689 retinitis pigmentosa 85 skos:closeMatch OMIM:618345 retinitis pigmentosa 85 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, growth deficiency, seizures, and brain malformations +MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations skos:closeMatch OMIM:618346 microcephaly, growth deficiency, seizures, and brain malformations semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly, growth deficiency, seizures, and brain malformations +MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618347 -MONDO:0032691 Galloway-Mowat syndrome 6 skos:closeMatch OMIM:618347 galloway-mowat syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch OMIM:618348 galloway-mowat syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label galloway-mowat syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032692 Galloway-Mowat syndrome 7 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618348 @@ -32939,60 +32947,60 @@ MONDO:0032693 Galloway-Mowat syndrome 8 skos:closeMatch OMIM:618349 galloway-mow MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch OMIM:618351 microcephaly 25, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 25, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032694 microcephaly 25, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618351 -MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032696 oocyte maturation defect 6 skos:closeMatch OMIM:618353 oocyte maturation defect 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032696 oocyte maturation defect 6 skos:closeMatch Orphanet:404466 Female infertility due to zona pellucida defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618353 -MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder and language delay with or without structural brain abnormalities +MONDO:0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities skos:closeMatch OMIM:618354 neurodevelopmental disorder and language delay with or without structural brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder and language delay with or without structural brain abnormalities MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with central and peripheral motor dysfunction MONDO:0032698 neurodevelopmental disorder with central and peripheral motor dysfunction skos:closeMatch OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with central and peripheral motor dysfunction -MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 +MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 skos:closeMatch OMIM:618357 epilepsy, idiopathic generalized, susceptibility to, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, idiopathic generalized, susceptibility to, type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch OMIM:618362 coffin-siris syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis +MONDO:0032702 Coffin-Siris syndrome 8 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618362 MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis +MONDO:0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis skos:closeMatch OMIM:618363 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination skos:closeMatch Orphanet:597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618367 MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 skos:closeMatch OMIM:618369 spinocerebellar ataxia, autosomal recessive 27 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 27 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turnpenny-fry syndrome MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym turnpenny-fry syndrome +MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label turnpenny-fry syndrome MONDO:0032707 turnpenny-fry syndrome skos:closeMatch OMIM:618371 turnpenny-fry syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurocardioskeletal syndrome MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032712 combined oxidative phosphorylation deficiency 38 skos:closeMatch OMIM:618378 combined oxidative phosphorylation deficiency 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch OMIM:618381 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome MONDO:0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome skos:closeMatch Orphanet:598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618381 +MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch OMIM:618383 intellectual developmental disorder, autosomal recessive 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate +MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch OMIM:618384 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate MONDO:0032716 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate skos:closeMatch Orphanet:615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618384 MONDO:0032717 amelogenesis imperfecta, type 3c skos:closeMatch OMIM:618386 amelogenesis imperfecta, iia 3c semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amelogenesis imperfecta, hypocalcification type, autosomal recessive MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch OMIM:618392 spondyloepiphyseal dysplasia, kondo-fu iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed with elevated blood lysosomal enzymes MONDO:0032723 immunodeficiency 60 skos:closeMatch OMIM:618394 immunodeficiency 60 and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency and autoimmunity, bach2-related MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 skos:closeMatch Orphanet:93359 Spondyloepimetaphyseal dysplasia with joint laxity semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618395 MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 -MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch OMIM:618397 combined oxidative phosphorylation deficiency 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032726 combined oxidative phosphorylation deficiency 39 skos:closeMatch Orphanet:565624 Combined oxidative phosphorylation defect type 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618397 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch OMIM:618402 intellectual developmental disorder, autosomal recessive 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032730 leukodystrophy, hypomyelinating, 18 skos:closeMatch OMIM:618404 leukodystrophy, hypomyelinating, 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618410 MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032732 hearing loss, autosomal recessive 113 skos:closeMatch OMIM:618410 deafness, autosomal recessive 113 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 113 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with impaired intellectual development and progressive ataxia MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label global developmental delay, progressive ataxia, and elevated glutamine MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym global developmental delay, progressive ataxia, and elevated glutamine -MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032733 global developmental delay, progressive ataxia, and elevated glutamine skos:closeMatch OMIM:618412 global developmental delay, progressive ataxia, and elevated glutamine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with impaired intellectual development and progressive ataxia MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032735 cataract 48 skos:closeMatch OMIM:618415 cataract 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cataract type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032735 cataract 48 skos:closeMatch Orphanet:98994 Total early-onset cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618415 MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression MONDO:0032736 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression skos:closeMatch OMIM:618416 metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression @@ -33001,91 +33009,91 @@ MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch OMIM:618 MONDO:0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy skos:closeMatch OMIM:618419 myoectodermal gonadal dysgenesis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032739 spermatogenic failure 36 skos:closeMatch OMIM:618420 spermatogenic failure 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618422 +MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032740 hearing loss, autosomal recessive 100 skos:closeMatch OMIM:618422 deafness, autosomal recessive 100 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 100 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with impaired speech and hyperkinetic movements MONDO:0032741 neurodevelopmental disorder with impaired speech and hyperkinetic movements skos:closeMatch OMIM:618425 neurodevelopmental disorder with impaired speech and hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with impaired speech and hyperkinetic movements MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 skos:closeMatch OMIM:618426 encephalopathy, acute, infection-induced, susceptibility to, 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced, susceptibility to, type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032744 spermatogenic failure 37 skos:closeMatch OMIM:618429 spermatogenic failure 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032744 spermatogenic failure 37 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618429 +MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with variable intellectual impairment and behavioral abnormalities MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618430 MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with variable intellectual impairment and behavioral abnormalities -MONDO:0032745 developmental delay with variable intellectual impairment and behavioral abnormalities skos:closeMatch OMIM:618430 developmental delay with variable intellectual impairment and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with variable intellectual impairment and behavioral abnormalities +MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618431 MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch OMIM:618431 hydatidiform mole, recurrent, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032746 hydatidiform mole, recurrent, 3 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618431 MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch OMIM:618432 hydatidiform mole, recurrent, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydatidiform mole, recurrent, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032747 hydatidiform mole, recurrent, 4 skos:closeMatch Orphanet:254688 Complete hydatidiform mole semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618432 -MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032748 spermatogenic failure 38 skos:closeMatch OMIM:618433 spermatogenic failure 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032748 spermatogenic failure 38 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618433 MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618434 MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 94 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032749 hearing loss, autosomal recessive 94 skos:closeMatch OMIM:618434 deafness, autosomal recessive 94 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 94 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1147 Sheldon-Hall syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 -MONDO:0032750 arthrogryposis, distal, type 2B2 skos:closeMatch Orphanet:1146 Distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618435 -MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:97120 Distal arthrogryposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 +MONDO:0032751 arthrogryposis, distal, type 2B3 skos:closeMatch Orphanet:2053 Freeman-Sheldon syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618436 MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032753 spastic ataxia 9, autosomal recessive skos:closeMatch OMIM:618438 spastic ataxia 9, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic ataxia type 9, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with or without variable brain abnormalities MONDO:0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA skos:closeMatch OMIM:618443 neurodevelopmental disorder with or without variable brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with or without variable brain abnormalities -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 -MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:exactMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 MONDO:0032756 long qt syndrome 8 skos:exactMatch Orphanet:65283 Timothy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement -MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch OMIM:618447 long qt syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:exactMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032756 long qt syndrome 8 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618447 +MONDO:0032756 long qt syndrome 8 skos:closeMatch NCIT:C142894 Long QT Syndrome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label long qt syndrome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch OMIM:618449 ciliary dyskinesia, primary, 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 -MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia +MONDO:0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia skos:closeMatch OMIM:618451 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:0032759 intellectual developmental disorder with short stature and variable skeletal anomalies skos:closeMatch OMIM:618453 intellectual developmental disorder with short stature and variable skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and variable skeletal anomalies MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label developmental delay with or without dysmorphic facies and autism MONDO:0032760 developmental delay with or without dysmorphic facies and autism skos:closeMatch OMIM:618454 developmental delay with or without dysmorphic facies and autism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with or without dysmorphic facies and autism -MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch OMIM:618456 deafness, autosomal recessive 114 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 114 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032761 hearing loss, autosomal recessive 114 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618456 -MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032762 hearing loss, autosomal recessive 115 skos:closeMatch OMIM:618457 deafness, autosomal recessive 115 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 115 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032763 immunodeficiency 62 skos:closeMatch OMIM:618459 immunodeficiency 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3k syndrome MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label khan-khan-katsanis syndrome MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym khan-khan-katsanis syndrome -MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032764 Khan-Khan-Katsanis syndrome skos:closeMatch OMIM:618460 khan-khan-katsanis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3k syndrome MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency -MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein a-i deficiency +MONDO:0032765 bleeding disorder, platelet-type, 22 skos:closeMatch OMIM:618462 bleeding disorder, platelet-type, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bleeding disorder, platelet-type, type 22 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym apolipoprotein a-i deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:604091 hypoalphalipoproteinemia, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency +MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym high density lipoprotein deficiency +MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label apolipoprotein a-i deficiency MONDO:0032766 hypoalphalipoproteinemia, primary, 2 skos:closeMatch Orphanet:425 Apolipoprotein A-I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618463 -MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618464 -MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032767 paragangliomas 6 skos:closeMatch OMIM:618464 paragangliomas 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032767 paragangliomas 6 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618464 MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch OMIM:618468 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch NCIT:C179296 Developmental and Epileptic Encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618470 -MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with severe speech and ambulation defects MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with severe speech and ambulation defects +MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch OMIM:618470 intellectual developmental disorder with severe speech and ambulation defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with severe speech and ambulation defects +MONDO:0032770 intellectual developmental disorder with severe speech and ambulation defects skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618470 MONDO:0032771 paragangliomas 7 skos:closeMatch Orphanet:29072 Hereditary pheochromocytoma-paraganglioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618475 MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032771 paragangliomas 7 skos:closeMatch OMIM:618475 paragangliomas 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paragangliomas type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label brain abnormalities, neurodegeneration, and dysosteosclerosis MONDO:0032772 brain abnormalities, neurodegeneration, and dysosteosclerosis skos:closeMatch OMIM:618476 brain abnormalities, neurodegeneration, and dysosteosclerosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brain abnormalities, neurodegeneration, and dysosteosclerosis -MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine-cytidineuria MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym uridine-cytidineuria +MONDO:0032773 uridine-cytidineuria skos:closeMatch OMIM:618477 uridine-cytidineuria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label uridine-cytidineuria MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar, ocular, craniofacial, and genital syndrome MONDO:0032774 cerebellar, ocular, craniofacial, and genital syndrome skos:closeMatch OMIM:618479 cerebellar, ocular, craniofacial, and genital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar, ocular, craniofacial, and genital syndrome MONDO:0032775 neurodevelopmental disorder with seizures and speech and walking impairment skos:closeMatch OMIM:618480 neurodevelopmental disorder with seizures and speech and walking impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and speech and walking impairment @@ -33102,22 +33110,22 @@ MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dys MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital hypotonia, epilepsy, developmental delay, and digital anomalies MONDO:0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies skos:closeMatch OMIM:618494 congenital hypotonia, epilepsy, developmental delay, and digital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital hypotonia, epilepsy, developmental delay, and digital anomalies MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd122 deficiency MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym interleukin type 2 receptor, beta, deficiency of semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd122 deficiency MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency -MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch OMIM:618495 immunodeficiency 63 with lymphoproliferation and autoimmunity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 63 with lymphoproliferation and autoimmunity semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements +MONDO:0032783 aortic valve disease 3 skos:closeMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aortic valve disorder type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements +MONDO:0032784 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements skos:closeMatch OMIM:618497 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements MONDO:0032785 polydactyly, postaxial, type a10 skos:closeMatch Orphanet:93334 Postaxial polydactyly type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618498 MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032786 Noonan syndrome 11 skos:closeMatch OMIM:618499 noonan syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032786 Noonan syndrome 11 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618499 MONDO:0032786 Noonan syndrome 11 skos:closeMatch NCIT:C177119 Noonan Syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch Orphanet:556955 Pancreatic agenesis-holoprosencephaly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618500 MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis skos:closeMatch OMIM:618500 holoprosencephaly 12 with or without pancreatic agenesis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly type 12 with or without pancreatic agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy with seizures and variable developmental delay MONDO:0032788 cerebellar atrophy with seizures and variable developmental delay skos:closeMatch OMIM:618501 cerebellar atrophy with seizures and variable developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar atrophy with seizures and variable developmental delay MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch OMIM:618504 intellectual developmental disorder, autosomal recessive 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -33127,75 +33135,75 @@ MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal ske MONDO:0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities skos:closeMatch OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618506 MONDO:0032791 Coffin-Siris syndrome 10 skos:closeMatch OMIM:618506 intellectual developmental disorder with speech delay and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch Orphanet:65 Leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618513 +MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032794 leber congenital amaurosis 19 skos:closeMatch OMIM:618513 leber congenital amaurosis 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leber congenital amaurosis type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032795 intellectual developmental disorder 59 skos:closeMatch OMIM:618522 intellectual developmental disorder, autosomal dominant 59 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 59 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 congenital myopathy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with tremor MONDO:0032797 myopathy, congenital, with tremor skos:closeMatch OMIM:618524 congenital myopathy 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myogenic tremor MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features MONDO:0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features skos:closeMatch OMIM:618527 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features -MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 +MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) skos:closeMatch OMIM:618528 mitochondrial DNA depletion syndrome 16 (hepatic type) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 16 (hepatic type) semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch OMIM:618529 robinow syndrome, autosomal recessive 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label robinow syndrome, autosomal recessive type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 -MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch Orphanet:1507 Autosomal recessive Robinow syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch OMIM:618531 erythrokeratodermia variabilis et progressiva 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618531 +MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch OMIM:618533 deafness, autosomal dominant 37 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 37 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032803 immunodeficiency 64 skos:closeMatch Orphanet:3261 Autoimmune lymphoproliferative syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618534 MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type skos:closeMatch Orphanet:248 Autosomal recessive hypohidrotic ectodermal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618535 MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypopigmentation, organomegaly, and delayed myelination and development MONDO:0032805 hypopigmentation, organomegaly, and delayed myelination and development skos:closeMatch OMIM:618541 hypopigmentation, organomegaly, and delayed myelination and development semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypopigmentation, organomegaly, and delayed myelination and development -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 -MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch OMIM:618546 trichothiodystrophy 7, nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch Orphanet:33364 Trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch NCIT:C173102 Trichothiodystrophy 7, Nonphotosensitive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trichothiodystrophy type 7, nonphotosensitive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with visual defects and brain anomalies MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with visual defects and brain anomalies -MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032807 neurodevelopmental disorder with visual defects and brain anomalies skos:closeMatch OMIM:618547 neurodevelopmental disorder with visual defects and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with visual defects and brain anomalies MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 -MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatitis, fulminant viral, susceptibility to +MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch OMIM:618548 multiple congenital anomalies-hypotonia-seizures syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatitis, fulminant viral, susceptibility to -MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032809 hepatitis, fulminant viral, susceptibility to skos:closeMatch OMIM:618549 hepatitis, fulminant viral, susceptibility to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hepatitis, fulminant viral, susceptibility to MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032810 oocyte maturation defect 7 skos:closeMatch OMIM:618550 oocyte maturation defect 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032811 night blindness, congenital stationary, type1i skos:closeMatch Orphanet:1872 Cone rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618555 MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 -MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch OMIM:618564 microangiopathy and leukoencephalopathy, pontine, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microangiopathy and leukoencephalopathy, pontine, autosomal dominant +MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant skos:closeMatch Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618564 MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032815 mitochondrial DNA depletion syndrome 17 skos:closeMatch OMIM:618567 mitochondrial DNA depletion syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618569 MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with ataxia, hypotonia, and microcephaly MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch OMIM:618569 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +MONDO:0032816 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618569 MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:0032817 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies skos:closeMatch OMIM:618571 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with cerebellar hypoplasia and spasticity MONDO:0032818 neurodevelopmental disorder with cerebellar hypoplasia and spasticity skos:closeMatch OMIM:618572 neurodevelopmental disorder with cerebellar hypoplasia and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with cerebellar hypoplasia and spasticity MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thyrotropin-releasing hormone resistance, generalized +MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch OMIM:618573 hypothyroidism, congenital, nongoitrous, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypothyroidism, congenital, nongoitrous, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch Orphanet:99832 Resistance to thyrotropin-releasing hormone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 -MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch OMIM:618577 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with structural brain anomalies and dysmorphic facies MONDO:0032821 myopathy, congenital, progressive, with scoliosis skos:closeMatch OMIM:618578 congenital myopathy 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, progressive, with scoliosis MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch OMIM:618580 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 60, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch Orphanet:1942 Myoclonic-astatic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618587 +MONDO:0032823 intellectual developmental disorder 60 with seizures skos:closeMatch OMIM:618587 intellectual developmental disorder, autosomal dominant 60, with seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 60, with seizures semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with brain anomalies, seizures, and scoliosis MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies, seizures, and scoliosis MONDO:0032824 glycosylphosphatidylinositol biosynthesis defect 21 skos:closeMatch OMIM:618590 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia and axial hypotonia, progressive MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic tetraplegia and axial hypotonia, progressive +MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic tetraplegia and axial hypotonia, progressive MONDO:0032828 spastic tetraplegia and axial hypotonia, progressive skos:closeMatch OMIM:618598 spastic tetraplegia and axial hypotonia, progressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sod1 deficiency, autosomal recessive -MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities +MONDO:0032829 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities skos:closeMatch OMIM:618603 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label snijders blok-fisher syndrome MONDO:0032830 snijders blok-fisher syndrome skos:closeMatch OMIM:618604 snijders blok-fisher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym snijders blok-fisher syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch Orphanet:613267 Pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 @@ -33211,28 +33219,28 @@ MONDO:0032834 retinitis pigmentosa 86 skos:closeMatch Orphanet:791 Retinitis pig MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label weiss-kruszka syndrome MONDO:0032836 weiss-kruszka syndrome skos:closeMatch OMIM:618619 weiss-kruszka syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weiss-kruszka syndrome -MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal obesity-metabolic syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abdominal obesity-metabolic syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies +MONDO:0032837 abdominal obesity-metabolic syndrome 4 skos:closeMatch OMIM:618620 abdominal obesity-metabolic syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abdominal obesity-metabolic syndrome type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch OMIM:618622 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032839 noonan syndrome 12 skos:closeMatch OMIM:618624 noonan syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 MONDO:0032839 noonan syndrome 12 skos:closeMatch NCIT:C177120 Noonan Syndrome 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label noonan syndrome type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032839 noonan syndrome 12 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618624 MONDO:0032841 Usher syndrome, type 1M skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618632 +MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, developmental delay, and poor growth MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym siddiqi syndrome -MONDO:0032842 Siddiqi syndrome skos:closeMatch OMIM:618635 siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, dystonia, developmental delay, and poor growth -MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032843 oculopharyngeal myopathy with leukoencephalopathy 1 skos:closeMatch OMIM:618637 oculopharyngeal myopathy with leukoencephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculopharyngeal myopathy with leukoencephalopathy type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch OMIM:618641 infantile liver failure syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label infantile liver failure syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032844 infantile liver failure syndrome 3 skos:closeMatch Orphanet:464724 Fever-associated acute infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618641 +MONDO:0032845 spermatogenic failure 39 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618643 MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032845 spermatogenic failure 39 skos:closeMatch OMIM:618643 spermatogenic failure 39 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 39 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032845 spermatogenic failure 39 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618643 -MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 65, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 65, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032848 immunodeficiency 65, susceptibility to viral infections skos:closeMatch OMIM:618648 immunodeficiency 65, susceptibility to viral infections semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 65, susceptibility to viral infections semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032849 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies skos:closeMatch OMIM:618651 halperin-birk syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurooculocardiogenitourinary syndrome MONDO:0032850 neurooculocardiogenitourinary syndrome skos:closeMatch OMIM:618652 neurooculocardiogenitourinary syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurooculocardiogenitourinary syndrome @@ -33241,47 +33249,47 @@ MONDO:0032851 intellectual developmental disorder with impaired language and dys MONDO:0032851 intellectual developmental disorder with impaired language and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618653 MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with structured cores and z-line abnormalities MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities skos:closeMatch OMIM:618654 congenital myopathy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym multiple structured core disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant skos:closeMatch OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, distal, type 6, adult-onset, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch OMIM:618658 zimmermann-laband syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zimmermann-laband syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032854 zimmermann-laband syndrome 3 skos:closeMatch Orphanet:3473 Zimmermann-Laband syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618658 -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies -MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618659 +MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies +MONDO:0032855 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:closeMatch OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch Orphanet:1670 Chronic diarrhea with villous atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618662 +MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intractable diarrhea of infancy syndrome MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032857 diarrhea 11, malabsorptive, congenital skos:closeMatch OMIM:618662 diarrhea 11, malabsorptive, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diarrhea type 11, malabsorptive, congenital semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032859 spermatogenic failure 40 skos:closeMatch OMIM:618664 spermatogenic failure 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 40 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032859 spermatogenic failure 40 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618664 MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch OMIM:618665 intellectual developmental disorder, autosomal recessive 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal recessive type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032862 hydrocephalus, congenital communicating, 1 skos:closeMatch OMIM:618667 hydrocephalus, congenital, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital communicating, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032863 spermatogenic failure 41 skos:closeMatch OMIM:618670 spermatogenic failure 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 41 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032863 spermatogenic failure 41 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618670 -MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with speech delay, autism, and dysmorphic facies -MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032864 intellectual developmental disorder with speech delay, autism, and dysmorphic facies skos:closeMatch OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 skos:closeMatch OMIM:618674 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary fibrosis and/or bone marrow failure, telomere-related, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 skos:closeMatch OMIM:618677 cortical dysplasia, complex, with other brain malformations 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical dysplasia, complex, with other brain malformations type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lessel-kubisch syndrome +MONDO:0032867 pancreatic cancer, susceptibility to, 5 skos:closeMatch OMIM:618680 pancreatic cancer, susceptibility to, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic cancer, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lessel-kubisch syndrome +MONDO:0032868 lessel-kubisch syndrome skos:closeMatch OMIM:618681 lessel-kubisch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lessel-kubisch syndrome MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 skos:closeMatch Orphanet:254913 Isolated ATP synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618683 -MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618687 MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with short stature and behavioral abnormalities +MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618687 MONDO:0032870 intellectual developmental disorder with short stature and behavioral abnormalities skos:closeMatch OMIM:618687 intellectual developmental disorder with short stature and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with short stature and behavioral abnormalities -MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile skos:closeMatch OMIM:618688 leukodystrophy, hypomyelinating, 19, transient infantile semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, hypomyelinating, type 19, transient infantile semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch OMIM:618695 ciliary dyskinesia, primary, 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 42, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -33289,15 +33297,15 @@ MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement skos:closeMatch MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch OMIM:618699 ciliary dyskinesia, primary, 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and microcephaly with genital anomalies MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short stature and microcephaly with genital anomalies +MONDO:0032875 short stature and microcephaly with genital anomalies skos:closeMatch OMIM:618702 short stature and microcephaly with genital anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short stature and microcephaly with genital anomalies MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ito-raymond syndrome MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with absent language and variable seizures MONDO:0032876 neurodevelopmental disorder with absent language and variable seizures skos:closeMatch OMIM:618707 neurodevelopmental disorder with absent language and variable seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with absent language and variable seizures -MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures -MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +MONDO:0032877 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures skos:closeMatch OMIM:618709 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +MONDO:0032878 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia skos:closeMatch OMIM:618718 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label megabladder, congenital MONDO:0032879 megabladder, congenital skos:closeMatch OMIM:618719 megabladder, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym megabladder, congenital MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch OMIM:618721 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutamate oxaloacetate transaminase, mitochondrial, deficiency of @@ -33305,24 +33313,24 @@ MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch OMI MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature ovarian failure type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032881 premature ovarian failure 16 skos:closeMatch OMIM:618723 premature ovarian failure 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym premature ovarian failure type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032881 premature ovarian failure 16 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618723 -MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heyn-sproul-jackson syndrome MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, short stature, and impaired intellectual development +MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label heyn-sproul-jackson syndrome MONDO:0032882 Heyn-Sproul-Jackson syndrome skos:closeMatch OMIM:618724 heyn-sproul-jackson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym heyn-sproul-jackson syndrome -MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures -MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies +MONDO:0032883 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures skos:closeMatch OMIM:618725 intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies +MONDO:0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies skos:closeMatch OMIM:618727 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label liang-wang syndrome MONDO:0032886 Liang-Wang syndrome skos:closeMatch OMIM:618729 liang-wang syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liang-wang syndrome MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MONDO:0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity skos:closeMatch OMIM:618730 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vandervore-schot syndrome -MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies -MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poirier-bienvenu neurodevelopmental syndrome +MONDO:0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies skos:closeMatch OMIM:618731 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym poirier-bienvenu neurodevelopmental syndrome -MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032889 Poirier-Bienvenu neurodevelopmental syndrome skos:closeMatch OMIM:618732 poirier-bienvenu neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label poirier-bienvenu neurodevelopmental syndrome MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch OMIM:618734 aneurysm, intracranial berry, 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label aneurysm, intracranial berry, type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch Orphanet:231160 Familial cerebral saccular aneurysm semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618734 MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym structural brain anomalies with impaired intellectual development and craniosynostosis MONDO:0032892 structural brain anomalies with impaired intellectual development and craniosynostosis skos:closeMatch OMIM:618736 structural brain anomalies with impaired intellectual development and craniosynostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label structural brain anomalies with impaired intellectual development and craniosynostosis @@ -33331,208 +33339,208 @@ MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic faci MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy skos:closeMatch OMIM:618741 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:closeMatch OMIM:618744 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym barakat-perenthaler syndrome -MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032896 spermatogenic failure 42 skos:closeMatch OMIM:618745 spermatogenic failure 42 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 42 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032896 spermatogenic failure 42 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618745 -MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with hypotonia and behavioral abnormalities -MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 +MONDO:0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities skos:closeMatch OMIM:618748 intellectual developmental disorder with hypotonia and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with hypotonia and behavioral abnormalities MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032898 spermatogenic failure 43 skos:closeMatch OMIM:618751 spermatogenic failure 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure type 43 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like -MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032898 spermatogenic failure 43 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618751 MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neutropenia, severe congenital, type 8, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutropenia, severe congenital, type 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch OMIM:618752 neutropenia, severe congenital, 8, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +MONDO:0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements skos:closeMatch OMIM:618760 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label catifa syndrome -MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym catifa syndrome +MONDO:0032901 Catifa syndrome skos:closeMatch OMIM:618761 catifa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032902 Joubert syndrome 36 skos:closeMatch OMIM:618763 joubert syndrome 36 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 36 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 MONDO:0032902 Joubert syndrome 36 skos:closeMatch Orphanet:2754 Orofaciodigital syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618763 MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch OMIM:618766 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch OMIM:618767 corneal dystrophy, meesmann, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, meesmann, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch Orphanet:98954 Meesmann corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 -MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch OMIM:618768 spastic paraplegia 81, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 81, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032905 spastic paraplegia 81, autosomal recessive skos:closeMatch Orphanet:506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618768 MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch OMIM:618770 spastic paraplegia 82, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spastic paraplegia type 82, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cebalid syndrome +MONDO:0032907 lymphatic malformation 8 skos:closeMatch OMIM:618773 lymphatic malformation 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphatic malformation type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cebalid syndrome MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development +MONDO:0032908 CEBALID syndrome skos:closeMatch OMIM:618774 cebalid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cebalid syndrome MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 skos:closeMatch Orphanet:1460 Isolated complex III deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618775 MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch OMIM:618778 deafness, autosomal dominant 75 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 75 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch OMIM:618779 coffin-siris syndrome 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 11 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032912 Coffin-Siris syndrome 11 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618779 -MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch Orphanet:3303 Tetralogy of Fallot semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618780 MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032913 congenital heart defects, multiple types, 7 skos:closeMatch OMIM:618780 congenital heart defects, multiple types, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 +MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch OMIM:618781 ciliary dyskinesia, primary, 44 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 44 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032915 long QT syndrome 16 skos:closeMatch OMIM:618782 long qt syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ventricular tachycardia, catecholaminergic polymorphic type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:3447 Weaver syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618786 MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym imagawa-matsumoto syndrome MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch OMIM:618786 imagawa-matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imagawa-matsumoto syndrome -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 -MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch OMIM:618787 deafness, autosomal dominant 76 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 76 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch OMIM:618792 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome MONDO:0032919 intellectual developmental disorder 62 skos:closeMatch OMIM:618793 intellectual developmental disorder, autosomal dominant 62 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618795 -MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile arthritis MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label juvenile arthritis -MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation +MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch OMIM:618795 juvenile arthritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym juvenile arthritis +MONDO:0032920 juvenile arthritis due to defect in LACC1 skos:closeMatch Orphanet:85414 Systemic-onset juvenile idiopathic arthritis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618795 MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation +MONDO:0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation skos:closeMatch OMIM:618797 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label beck-fahrner syndrome MONDO:0032922 Beck-Fahrner syndrome skos:closeMatch OMIM:618798 beck-fahrner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beck-fahrner syndrome MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 skos:closeMatch OMIM:618800 spinocerebellar ataxia, autosomal recessive 28 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 28 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 +MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 45, without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch OMIM:618801 ciliary dyskinesia, primary, 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 -MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label respiratory papillomatosis, juvenile recurrent, congenital MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym respiratory papillomatosis, juvenile recurrent, congenital +MONDO:0032925 respiratory papillomatosis, juvenile recurrent, congenital skos:closeMatch OMIM:618803 respiratory papillomatosis, juvenile recurrent, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label respiratory papillomatosis, juvenile recurrent, congenital MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sandestig-stefanova syndrome MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch OMIM:618804 sandestig-stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome -MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triokinase and fmn cyclase deficiency syndrome MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym triokinase and fmn cyclase deficiency syndrome +MONDO:0032927 triokinase and FMN cyclase deficiency syndrome skos:closeMatch OMIM:618805 triokinase and fmn cyclase deficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label triokinase and fmn cyclase deficiency syndrome MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch OMIM:618806 t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym t-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with poor growth and with or without seizures or ataxia MONDO:0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia skos:closeMatch OMIM:618808 intellectual developmental disorder with poor growth and with or without seizures or ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with poor growth and with or without seizures or ataxia -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 +MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 deletion syndrome, atad3 gene cluster, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch OMIM:618810 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym phrinl syndrome MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 -MONDO:0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal skos:closeMatch Orphanet:615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618810 -MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032932 mitochondrial DNA depletion syndrome 18 skos:closeMatch OMIM:618811 mitochondrial DNA depletion syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant skos:closeMatch OMIM:618815 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitourinary and/or brain malformation syndrome MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym genitourinary and/or brain malformation syndrome -MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic limb shortening with dysmorphic features +MONDO:0032934 genitourinary and/or brain malformation syndrome skos:closeMatch OMIM:618820 genitourinary and/or brain malformation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label genitourinary and/or brain malformation syndrome MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhizomelic limb shortening with dysmorphic features +MONDO:0032935 rhizomelic limb shortening with dysmorphic features skos:closeMatch OMIM:618821 rhizomelic limb shortening with dysmorphic features semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhizomelic limb shortening with dysmorphic features MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures skos:closeMatch OMIM:618822 congenital myopathy 9a semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0032937 myopathy, congenital proximal, with minicore lesions skos:closeMatch OMIM:618823 congenital myopathy 9b, proximal, with minicore lesions semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital proximal, with minicore lesions -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch Orphanet:1980 Bilateral striopallidodentate calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618824 -MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive skos:closeMatch OMIM:618824 basal ganglia calcification, idiopathic, 8, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basal ganglia calcification, idiopathic, type 8, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly skos:closeMatch OMIM:618825 intellectual developmental disorder, autosomal dominant 63, with macrocephaly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 63, with macrocephaly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618826 +MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0032940 retinitis pigmentosa 88 skos:closeMatch OMIM:618826 retinitis pigmentosa 88 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 88 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch OMIM:618828 nabais sa-de vries syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with microcephaly and dysmorphic facies MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch OMIM:618829 nabais sa-de vries syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3, formerly -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, congenital -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without hepatic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label polycystic kidney disorder type 4 with or without polycystic liver disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hepatic fibrosis, congenital MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney and hepatic disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic kidney disorder type 4 with or without hepatic disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3, formerly +MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3 MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:263200 MONDO:0033004 polycystic kidney disease 4 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0085548 -MONDO:0033004 polycystic kidney disease 4 skos:closeMatch OMIM:600666 polycystic kidney disease 3 with or without polycystic liver disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pkd3 -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-microcephaly syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome -MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251300 MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrosis-neuronal dysmigration syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, autosomal recessive type 5, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:251300 +MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym galloway syndrome MONDO:0033005 Galloway-Mowat syndrome 1 skos:closeMatch OMIM:251300 galloway-mowat syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly, hiatal hernia, and nephrotic syndrome MONDO:0033006 Galloway-Mowat syndrome 2, X-linked skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301006 MONDO:0033007 Galloway-Mowat syndrome 3 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617729 MONDO:0033008 Galloway-Mowat syndrome 4 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617730 MONDO:0033009 Galloway-Mowat syndrome 5 skos:closeMatch Orphanet:2065 Galloway-Mowat syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617731 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia, progressive symmetric +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis with erythema gyratum repens +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:495 Transgrediens et progrediens palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym greither disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch NCIT:C84696 Erythrokeratodermia Variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 -MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratosis palmoplantaris transgrediens et progrediens -MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617524 +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133200 +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis +MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 skos:closeMatch OMIM:133200 erythrokeratodermia variabilis et progressiva 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617524 MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 skos:closeMatch OMIM:617524 erythrokeratodermia variabilis et progressiva 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617525 MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch OMIM:617525 erythrokeratodermia variabilis et progressiva 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617525 -MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch OMIM:617526 erythrokeratodermia variabilis et progressiva 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 skos:closeMatch Orphanet:317 Erythrokeratodermia variabilis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617526 MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch Orphanet:316 Progressive symmetric erythrokeratodermia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617756 +MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 skos:closeMatch OMIM:617756 erythrokeratodermia variabilis et progressiva 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrokeratodermia variabilis et progressiva type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy skos:closeMatch Orphanet:527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617560 -MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617562 MONDO:0033044 Meckel syndrome 13 skos:closeMatch OMIM:617562 meckel syndrome 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joubert syndrome type 29 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033044 Meckel syndrome 13 skos:closeMatch Orphanet:564 Meckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617562 MONDO:0033045 orofaciodigital syndrome 16 skos:closeMatch OMIM:617563 orofaciodigital syndrome 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 16 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033047 Perrault syndrome 6 skos:closeMatch Orphanet:2855 Perrault syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617565 MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 skos:closeMatch Orphanet:313 Lamellar ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617571 MONDO:0033123 exudative vitreoretinopathy 7 skos:closeMatch Orphanet:891 Familial exudative vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617572 MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G skos:closeMatch Orphanet:476394 PMP2-related Charcot-Marie-Tooth disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618279 -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617637 +MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033198 hearing loss, autosomal recessive 106 skos:closeMatch OMIM:617637 deafness, autosomal recessive 106 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 106 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617639 MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033199 hearing loss, autosomal recessive 107 skos:closeMatch OMIM:617639 deafness, autosomal recessive 107 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617654 -MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033200 hearing loss, autosomal recessive 108 skos:closeMatch OMIM:617654 deafness, autosomal recessive 108 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 108 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033201 hearing loss, autosomal recessive 57 skos:closeMatch OMIM:618003 deafness, autosomal recessive 57 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033202 hearing loss, autosomal recessive 109 skos:closeMatch OMIM:618013 deafness, autosomal recessive 109 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 109 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial steroid-resistant nephrotic syndrome with adrenal insufficiency MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617575 -MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617577 +MONDO:0033203 nephrotic syndrome 14 skos:closeMatch Orphanet:506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label familial steroid-resistant nephrotic syndrome with adrenal insufficiency MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch OMIM:617577 ciliary dyskinesia, primary, 37 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 37, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033204 ciliary dyskinesia, primary, 37 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617577 MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch OMIM:617605 deafness, autosomal dominant 71 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 71 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033258 hearing loss, autosomal dominant 71 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617605 -MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch OMIM:617606 deafness, autosomal dominant 72 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 72 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033259 hearing loss, autosomal dominant 72 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617606 +MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617663 -MONDO:0033260 hearing loss, autosomal dominant 73 skos:closeMatch OMIM:617663 deafness, autosomal dominant 73 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 73 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation skos:closeMatch OMIM:617772 deafness, autosomal dominant 34, with or without inflammation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 34, with or without inflammation semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033281 polycystic kidney disease 5 skos:closeMatch Orphanet:731 Autosomal recessive polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617610 MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 skos:closeMatch Orphanet:569274 Multiple mitochondrial dysfunctions syndrome type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617613 MONDO:0033308 Joubert syndrome 30 skos:closeMatch Orphanet:475 Joubert syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617622 @@ -33552,15 +33560,15 @@ MONDO:0033369 developmental and epileptic encephalopathy, 60 skos:closeMatch Orp MONDO:0033371 developmental and epileptic encephalopathy, 62 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617938 MONDO:0033374 developmental and epileptic encephalopathy, 65 skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618008 MONDO:0033375 orofaciodigital syndrome 17 skos:closeMatch OMIM:617926 orofaciodigital syndrome 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 17 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement +MONDO:0033479 spinocerebellar ataxia 44 skos:exactMatch Orphanet:631095 Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label spinocerebellar ataxia type 44 semapv:RegularExpressionReplacement MONDO:0033481 spinocerebellar ataxia 46 skos:closeMatch OMIM:617770 spinocerebellar ataxia 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, type 46, autosomal dominant, with sensory axonal neuropathy semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement +MONDO:0033482 spinocerebellar ataxia 47 skos:exactMatch Orphanet:589515 PUM1-associated developmental disability-ataxia-seizure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spinocerebellar ataxia type 47 semapv:RegularExpressionReplacement MONDO:0033486 leukodystrophy, hypomyelinating, 14 skos:closeMatch Orphanet:139441 Hypomyelination with atrophy of basal ganglia and cerebellum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617899 -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617808 +MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033492 Coffin-Siris syndrome 6 skos:closeMatch OMIM:617808 coffin-siris syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch OMIM:617626 fibromatosis, gingival, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibromatosis, gingival, hereditary, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033493 fibromatosis, gingival, 5 skos:closeMatch Orphanet:2024 Hereditary gingival fibromatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617626 MONDO:0033532 Suleiman-El-Hattab syndrome skos:closeMatch OMIM:618950 suleiman-el-hattab syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym suleiman-el-hattab syndrome @@ -33569,71 +33577,71 @@ MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch O MONDO:0033533 combined oxidative phosphorylation deficiency 45 skos:closeMatch OMIM:618951 combined oxidative phosphorylation deficiency 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 45 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033534 combined oxidative phosphorylation deficiency 46 skos:closeMatch OMIM:618952 combined oxidative phosphorylation deficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 46 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033537 combined oxidative phosphorylation deficiency 47 skos:closeMatch OMIM:618958 combined oxidative phosphorylation deficiency 47 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 47 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ifng deficiency, autosomal recessive MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 69 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033541 immunodeficiency 69 skos:closeMatch OMIM:618963 immunodeficiency 69 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 69, mycobacteriosis, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod synaptic disorder syndrome, congenital nonprogressive +MONDO:0033542 immunodeficiency 70 skos:closeMatch OMIM:618969 immunodeficiency 70 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 70 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cone-rod synaptic disorder syndrome, congenital nonprogressive -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and variable bone defects +MONDO:0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive skos:closeMatch OMIM:618970 cone-rod synaptic disorder syndrome, congenital nonprogressive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cone-rod synaptic disorder syndrome, congenital nonprogressive MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618971 -MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tolchin-le caignec syndrome +MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with behavioral abnormalities and variable bone defects MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tolchin-le caignec syndrome +MONDO:0033544 Tolchin-Le Caignec syndrome skos:closeMatch OMIM:618971 tolchin-le caignec syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tolchin-le caignec syndrome MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch OMIM:618972 mitochondrial DNA depletion syndrome 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial dna depletion syndrome type 19 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033545 mitochondrial DNA depletion syndrome 19 skos:closeMatch Orphanet:254875 Mitochondrial DNA depletion syndrome, myopathic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618972 -MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smvt deficiency MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, infantile-onset, biotin-responsive -MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium-dependent multivitamin transporter deficiency +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smvt deficiency MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sodium-dependent multivitamin transporter deficiency +MONDO:0033546 neurodegeneration, infantile-onset, biotin-responsive skos:closeMatch OMIM:618973 sodium-dependent multivitamin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sodium-dependent multivitamin transporter deficiency MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label li-ghorbani-weisz-hubshman syndrome MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch OMIM:618974 li-ghorbani-weisz-hubshman syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym li-ghorbani-weisz-hubshman syndrome MONDO:0033547 Li-Ghorbani-Weisz-Hubshman syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618974 MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, due to myod1 deficiency -MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch Orphanet:994 Fetal akinesia deformation sequence semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618975 -MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 +MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies skos:closeMatch OMIM:618975 congenital myopathy 17 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033549 optic atrophy 12 skos:closeMatch OMIM:618977 optic atrophy 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic atrophy type 12 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033549 optic atrophy 12 skos:closeMatch Orphanet:98673 Autosomal dominant optic atrophy, classic form semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618977 MONDO:0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia skos:closeMatch Orphanet:183707 Neutrophil immunodeficiency syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618987 -MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, dpm3-related MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch Orphanet:370968 Congenital muscular dystrophy with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 +MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch OMIM:618992 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), iia b, 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy, congenital, dpm3-related MONDO:0033557 hemophagocytic lymphohistiocytosis, familial, 6 skos:closeMatch Orphanet:540 Familial hemophagocytic lymphohistiocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618998 -MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, immune dysregulation, and eosinophilia -MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, immune dysregulation, and eosinophilia MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, enteritis, colitis, and eosinophilia -MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with seizures and language delay +MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, immune dysregulation, and eosinophilia +MONDO:0033558 autoinflammation, immune dysregulation, and eosinophilia skos:closeMatch OMIM:618999 autoinflammation, immune dysregulation, and eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation, immune dysregulation, and eosinophilia MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619000 +MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with seizures and language delay MONDO:0033559 intellectual developmental disorder with seizures and language delay skos:closeMatch OMIM:619000 intellectual developmental disorder with seizures and language delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with seizures and language delay MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 +MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deeah syndrome MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label deeah syndrome MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities -MONDO:0033561 deeah syndrome skos:closeMatch OMIM:619004 deeah syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deeah syndrome -MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619005 MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 -MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619005 MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch OMIM:619007 retinitis pigmentosa 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 90 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033563 retinitis pigmentosa 90 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619007 MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033564 oocyte maturation defect 8 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619009 +MONDO:0033564 oocyte maturation defect 8 skos:closeMatch OMIM:619009 oocyte maturation defect 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033565 oocyte maturation defect 9 skos:closeMatch Orphanet:488191 Female infertility due to oocyte meiotic arrest semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619011 -MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033565 oocyte maturation defect 9 skos:closeMatch OMIM:619011 oocyte maturation defect 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oocyte maturation defect type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033566 combined oxidative phosphorylation deficiency 48 skos:closeMatch OMIM:619012 combined oxidative phosphorylation deficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 48 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033569 combined oxidative phosphorylation deficiency 49 skos:closeMatch OMIM:619024 combined oxidative phosphorylation deficiency 49 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 49 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619031 +MONDO:0033570 combined oxidative phosphorylation deficiency 50 skos:closeMatch OMIM:619025 combined oxidative phosphorylation deficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined oxidative phosphorylation deficiency type 50 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch OMIM:619031 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies +MONDO:0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619031 MONDO:0033615 coenzyme q10 deficiency, primary, 9 skos:closeMatch Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619028 MONDO:0033622 spermatogenic failure 44 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619044 MONDO:0033630 neurodevelopmental disorder with speech impairment and dysmorphic facies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619056 @@ -33661,116 +33669,116 @@ MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 de MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch OMIM:619081 deafness, autosomal dominant 78 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 78 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619081 MONDO:0033667 Delpire-McNeill syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619083 -MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch OMIM:619086 deafness, autosomal dominant 79 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 79 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 MONDO:0033669 Noonan syndrome 13 skos:closeMatch Orphanet:648 Noonan syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619087 -MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch Orphanet:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch OMIM:619093 deafness, autosomal recessive 116 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 116 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0033671 spermatogenic failure 45 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619094 MONDO:0033673 spermatogenic failure 46 skos:closeMatch Orphanet:399808 Male infertility with teratozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619095 MONDO:0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome skos:closeMatch Orphanet:522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618218 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 1 semapv:RegularExpressionReplacement -MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 1 semapv:RegularExpressionReplacement MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 2 semapv:RegularExpressionReplacement MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioneurotic edema, hereditary +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label angioedema, hereditary, type 1 semapv:RegularExpressionReplacement +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100050 Hereditary angioedema type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch OMIM:106100 angioedema, hereditary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angioedema, hereditary, type 1 semapv:RegularExpressionReplacement +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:91378 Hereditary angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 +MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch Orphanet:100051 Hereditary angioedema type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 MONDO:0034022 Bethlem myopathy 2 skos:closeMatch Orphanet:610 Bethlem myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616471 MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency skos:closeMatch Orphanet:538958 Combined immunodeficiency due to CD70 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618261 MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch Orphanet:544503 RNF13-related severe early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618379 MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers skos:closeMatch Orphanet:544602 Congenital myopathy with reduced type 2 muscle fibers semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618414 -MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch OMIM:618321 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0034121 NAD(P)HX dehydratase deficiency skos:closeMatch Orphanet:555402 NAD(P)HX dehydratase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618321 -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoskeletodental syndrome MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cataracts, early-onset, with skeletal and dental anomalies -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618440 -MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch OMIM:618440 oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oculoskeletodental syndrome +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label oculoskeletodental syndrome +MONDO:0034145 oculocerebrodental syndrome skos:closeMatch Orphanet:557003 Oculoskeletodental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618440 MONDO:0034212 methotrexate toxicity skos:exactMatch NCIT:C81194 Methotrexate Toxicity semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label methotrexate toxicity MONDO:0034556 vibratory angioedema skos:exactMatch OMIM:125630 vibratory urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym vibratory angioedema MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome skos:closeMatch Orphanet:589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617991 MONDO:0035153 male infertility due to acephalic spermatozoa skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acephalic spermatozoa syndrome -MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoffman syndrome MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bilu syndrome +MONDO:0035454 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome skos:exactMatch OMIM:609296 b-cell immunodeficiency, distal limb anomalies, and urogenital malformations semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoffman syndrome MONDO:0035474 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis skos:exactMatch OMIM:616843 lymphatic malformation 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym generalized lymphatic dysplasia of fotiou MONDO:0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome skos:closeMatch Orphanet:603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619273 MONDO:0036189 oculogastrointestinal-neurodevelopmental syndrome skos:closeMatch Orphanet:611201 Oculogastrointestinal-neurodevelopmental syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619318 MONDO:0036193 parkinsonism with polyneuropathy skos:closeMatch Orphanet:611237 Parkinsonism with polyneuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619279 MONDO:0036212 spastic paraparesis-cataracts-speech delay syndrome skos:closeMatch Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619338 +MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:closeMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0003810 MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym androblastoma -MONDO:0036595 ovarian Sertoli-Leydig cell tumor skos:exactMatch Orphanet:99916 Malignant Sertoli-Leydig cell tumor of the ovary semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym arrhenoblastoma MONDO:0037747 spinal injury skos:exactMatch NCIT:C50751 Spinal Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinal injury -MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NCIT:C97089 Carbohydrate Metabolism Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carbohydrate metabolism disorder semapv:RegularExpressionReplacement MONDO:0037792 carbohydrate metabolism disease skos:exactMatch Orphanet:79161 Disorder of carbohydrate metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of carbohydrate metabolism +MONDO:0037792 carbohydrate metabolism disease skos:exactMatch NCIT:C97089 Carbohydrate Metabolism Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label carbohydrate metabolism disorder semapv:RegularExpressionReplacement MONDO:0037807 glycerol metabolism disease skos:closeMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342762 MONDO:0037807 glycerol metabolism disease skos:exactMatch Orphanet:79179 Disorder of glycerol metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of glycerol metabolism MONDO:0037821 porphyrin metabolism disease skos:closeMatch Orphanet:309813 Disorder of porphyrin and heme metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label disorder of porphyrin and heme metabolism -MONDO:0037829 purine metabolism disease skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 MONDO:0037829 purine metabolism disease skos:exactMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of purine metabolism -MONDO:0037937 pyrimidine metabolism disease skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 +MONDO:0037829 purine metabolism disease skos:closeMatch Orphanet:79191 Disorder of purine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268104 MONDO:0037937 pyrimidine metabolism disease skos:exactMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label disorder of pyrimidine metabolism +MONDO:0037937 pyrimidine metabolism disease skos:closeMatch Orphanet:79193 Disorder of pyrimidine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268127 MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria MONDO:0037939 porphyria skos:exactMatch Orphanet:738 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria -MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label porphyria -MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement +MONDO:0037939 porphyria skos:exactMatch NCIT:C97096 Porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label porphyria MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0037939 porphyria skos:narrowMatch ICD10WHO:E80.2 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement +MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0037939 porphyria skos:narrowMatch ICD10CM:E80.29 Other porphyria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym porphyria semapv:RegularExpressionReplacement MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617816 MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 skos:closeMatch OMIM:617816 glycosylphosphatidylinositol biosynthesis defect 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 62 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 -MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ehlers-danlos syndrome, arthrochalasia type, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch OMIM:617821 ehlers-danlos syndrome, arthrochalasia type, 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eds type 7b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch Orphanet:1899 Arthrochalasia Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 MONDO:0040502 glucocorticoid deficiency 5 skos:closeMatch Orphanet:361 Familial glucocorticoid deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617825 -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617681 -MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch OMIM:617681 blepharocheilodontic syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0040503 blepharocheilodontic syndrome 2 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617681 MONDO:0040671 class V glucose-6-phosphate dehydrogenase deficiency skos:closeMatch NCIT:C34607 Favism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label favism MONDO:0040674 orgasm disorder skos:closeMatch NCIT:C78510 Abnormal Orgasm semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label abnormal orgasm MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peripheral ischemia MONDO:0041114 peripheral ischemia skos:exactMatch NCIT:C78535 Peripheral Ischemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label peripheral ischemia MONDO:0041182 polymorphic light eruption skos:exactMatch NCIT:C112201 Polymorphous Light Eruption semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label polymorphous light eruption MONDO:0042233 disseminated candidiasis skos:closeMatch NCIT:C116813 Invasive Candidiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label invasive candidiasis -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal adenoma and carcinoma type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601228 MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome type 15q13-q14 duplication syndrome, type 40-kb semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, on chromosome type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch Orphanet:157794 Hereditary mixed polyposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601228 +MONDO:0042486 polyposis syndrome, hereditary mixed, 1 skos:closeMatch OMIM:601228 polyposis syndrome, hereditary mixed, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorectal cancer, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042490 neutropenia, severe congenital, 1, autosomal dominant skos:closeMatch Orphanet:486 Autosomal dominant severe congenital neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:202700 +MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label seizures, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch OMIM:601764 seizures, benign familial infantile, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym convulsions, benign familial infantile, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch Orphanet:306 Benign familial infantile epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 MONDO:0042970 disorder of glutamate decarboxylase skos:closeMatch Orphanet:3006 Pyridoxine-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1291560 MONDO:0042974 parainfluenza virus type 3 infectious disease skos:closeMatch NCIT:C112317 Human Parainfluenza Virus 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label human parainfluenza virus type 3 semapv:RegularExpressionReplacement -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym brooke-fordyce trichoepitheliomas -MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:79493 Brooke-Spiegler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma adenoides cysticum of brooke +MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch Orphanet:867 Familial multiple trichoepithelioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601606 +MONDO:0042977 trichoepithelioma, multiple familial, 1 skos:closeMatch OMIM:601606 trichoepithelioma, multiple familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epithelioma, hereditary multiple benign cystic MONDO:0042979 hypokalemic periodic paralysis, type 1 skos:closeMatch Orphanet:681 Hypokalemic periodic paralysis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:170400 -MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:618496 aortic valve disease 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis +MONDO:0042981 aortic valve stenosis skos:exactMatch OMIM:614823 aortic valve disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aortic valve stenosis MONDO:0042982 GATA2 deficiency with susceptibility to MDS/AML skos:exactMatch OMIM:614172 immunodeficiency 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gata2 deficiency MONDO:0042983 neurocutaneous syndrome skos:closeMatch NCIT:C84348 Phakomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phakomatosis -MONDO:0043003 familial acanthosis nigricans skos:closeMatch NCIT:C26687 Acanthosis Nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans -MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans +MONDO:0043003 familial acanthosis nigricans skos:closeMatch OMIM:100600 acanthosis nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acanthosis nigricans +MONDO:0043003 familial acanthosis nigricans skos:closeMatch NCIT:C26687 Acanthosis Nigricans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acanthosis nigricans MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931224 MONDO:0043143 microphthalmia microtia fetal akinesia skos:closeMatch Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thomas-jewett-raines syndrome MONDO:0043164 palmer pagon syndrome skos:closeMatch Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2931734 MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 -MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536477 +MONDO:0043207 urethral obstruction sequence skos:closeMatch Orphanet:2970 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0265363 MONDO:0043233 exfoliative dermatitis skos:closeMatch NCIT:C39646 Erythroderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroderma MONDO:0043251 odontoma skos:closeMatch NCIT:C3710 Ameloblastic Fibro-Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ameloblastic fibro-odontoma MONDO:0043251 odontoma skos:closeMatch NCIT:C3711 Compound Odontoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label compound odontoma @@ -33779,18 +33787,18 @@ MONDO:0043303 hyperacusis skos:closeMatch NCIT:C122579 Phonophobia semapv:Lexica MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0043317 amyopathic dermatomyositis skos:closeMatch Orphanet:93672 Juvenile dermatomyositis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538250 MONDO:0043327 cerebrospinal fluid leak skos:closeMatch NCIT:C50487 Cerebrospinal Fluid Leakage semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebrospinal fluid leakage -MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eosinophil peroxidase deficiency, partial MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly +MONDO:0043364 eosinophil peroxidase deficiency skos:closeMatch OMIM:261500 eosinophil peroxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym presentey anomaly MONDO:0043373 sudden sensorineural hearing loss skos:closeMatch Orphanet:90059 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma MONDO:0043452 chromosome 8, trisomy skos:closeMatch NCIT:C36396 Trisomy 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label trisomy type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0043510 brain injury skos:exactMatch NCIT:C50440 Brain Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label brain injury MONDO:0043510 brain injury skos:exactMatch NCIT:C50440 Brain Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain injury -MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement -MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement +MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10WHO:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement +MONDO:0043541 viral conjunctivitis skos:narrowMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym viral conjunctivitis semapv:RegularExpressionReplacement MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C70653 Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label inversion MONDO:0043678 chromosome inversion disorder skos:closeMatch NCIT:C6827 Chromosomal Inversion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chromosomal inversion MONDO:0043726 multiple organ dysfunction syndrome skos:exactMatch NCIT:C75568 Multiple Organ Failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiple organ failure @@ -33801,23 +33809,23 @@ MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:Lexic MONDO:0043895 ankle injury skos:exactMatch NCIT:C35137 Ankle Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ankle injury MONDO:0043919 radiation pneumonitis skos:closeMatch NCIT:C9436 Radiation Fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label radiation fibrosis MONDO:0043959 pseudolymphoma skos:closeMatch NCIT:C97078 Benign Lymphoid Hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label benign lymphoid hyperplasia -MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedo reticularis MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label livedo reticularis -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044037 livedo reticularis skos:exactMatch NCIT:C74524 Livedo Reticularis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label livedo reticularis +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipomatosis of pancreas, congenital -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-bodian syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch NCIT:C61235 Shwachman-Diamond Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label shwachman-diamond syndrome MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260400 -MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome +MONDO:0044204 Shwachman-Diamond syndrome 1 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic insufficiency and bone marrow dysfunction MONDO:0044205 Shwachman-Diamond syndrome 2 skos:closeMatch Orphanet:811 Shwachman-Diamond syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617941 -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophy with sensorineural deafness -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-insley syndrome MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome, formerly -MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-insley syndrome +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nance-sweeney chondrodysplasia MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch Orphanet:1427 Otospondylomegaepiphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:215150 +MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive skos:closeMatch OMIM:184840 otospondylomegaepiphyseal dysplasia, autosomal dominant semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym weissenbacher-zweymuller syndrome MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactoferrin-deficient neutrophils MONDO:0044207 specific granule deficiency 1 skos:closeMatch OMIM:245480 specific granule deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutrophil lactoferrin deficiency MONDO:0044207 specific granule deficiency 1 skos:closeMatch Orphanet:169142 Recurrent infection due to specific granule deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245480 @@ -33825,26 +33833,26 @@ MONDO:0044208 specific granule deficiency 2 skos:closeMatch Orphanet:169142 Recu MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch OMIM:616224 myasthenic syndrome, congenital, 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym prepl deficiency MONDO:0044299 myasthenic syndrome, congenital, 22 skos:closeMatch Orphanet:590 Congenital myasthenic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616224 MONDO:0044300 familial adenomatous polyposis 4 skos:closeMatch Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617100 -MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, dysmorphic facial features, and intellectual developmental disorder -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617384 -MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, mild, non-bh4-deficient +MONDO:0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder skos:closeMatch OMIM:617360 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, dysmorphic facial features, and intellectual developmental disorder MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, mild, non-bh4-deficient +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch OMIM:617384 hyperphenylalaninemia, mild, non-bh4-deficient semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, mild, non-bh4-deficient +MONDO:0044304 hyperphenylalaninemia due to DNAJC12 deficiency skos:closeMatch Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617384 MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination skos:closeMatch Orphanet:500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617393 -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch Orphanet:110 Bardet-Biedl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617406 +MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044308 bardet-biedl syndrome 21 skos:closeMatch OMIM:617406 bardet-biedl syndrome 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label bardet-biedl syndrome type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044309 Diamond-Blackfan anemia 16 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617408 MONDO:0044310 Diamond-Blackfan anemia 17 skos:closeMatch Orphanet:124 Blackfan-Diamond anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617409 MONDO:0044311 brachycephaly, trichomegaly, and developmental delay skos:closeMatch OMIM:617412 brachycephaly, trichomegaly, and developmental delay semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym macinnes syndrome -MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:closeMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoskeletal dysplasia with neurodevelopmental abnormalities MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:closeMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunoskeletal dysplasia with neurodevelopmental abnormalities -MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt60 +MONDO:0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities skos:closeMatch OMIM:617425 immunoskeletal dysplasia with neurodevelopmental abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoskeletal dysplasia with neurodevelopmental abnormalities MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 60 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch OMIM:617432 intellectual developmental disorder, autosomal recessive 60 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt60 MONDO:0044314 retinitis pigmentosa 78 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617433 -MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym crs7, digenic +MONDO:0044315 craniosynostosis 7 skos:closeMatch OMIM:617439 craniosynostosis 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym craniosynostosis type 7, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies skos:closeMatch Orphanet:505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617452 MONDO:0044320 retinitis pigmentosa 79 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617460 MONDO:0044324 Al Kaissi syndrome skos:closeMatch OMIM:617694 al kaissi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label al kaissi syndrome @@ -33855,12 +33863,12 @@ MONDO:0044330 hyperekplexia 4 skos:closeMatch Orphanet:3197 Hereditary hyperekpl MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc degeneration, susceptibility to MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc herniation, susceptibility to MONDO:0044339 lumbar disc degenerative disorder skos:closeMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lumbar disc disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10CM:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10WHO:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement +MONDO:0044343 cervical disc degenerative disorder skos:narrowMatch ICD10CM:M50.3 Other cervical disc degeneration semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym cervical disc degeneration semapv:RegularExpressionReplacement +MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy +MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy MONDO:0044348 hemoglobinopathy skos:exactMatch Orphanet:68364 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy -MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hemoglobinopathy -MONDO:0044348 hemoglobinopathy skos:exactMatch NCIT:C3092 Hemoglobinopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hemoglobinopathy MONDO:0044350 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:closeMatch Orphanet:99879 Familial isolated hyperparathyroidism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600166 MONDO:0044355 isolated sternocostoclavicular hyperostosis skos:closeMatch Orphanet:178311 Isolated sternocostoclavicular hyperostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020499 MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome skos:closeMatch Orphanet:494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617763 @@ -33873,16 +33881,16 @@ MONDO:0044688 isolated optic neuritis skos:exactMatch NCIT:C597 Ion semapv:Lexic MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, progressive, early-onset, with brain atrophy and spasticity MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, progressive, early-onset, with brain atrophy and spasticity MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome skos:closeMatch Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617669 -MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with brain atrophy MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617672 MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neurodegeneration, childhood-onset, with brain atrophy +MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder skos:closeMatch OMIM:617672 neurodegeneration, childhood-onset, with brain atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neurodegeneration, childhood-onset, with brain atrophy MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome skos:closeMatch Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301018 MONDO:0044704 oropharynx squamous cell carcinoma skos:closeMatch Orphanet:500478 Squamous cell carcinoma of the oropharynx semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the oropharynx MONDO:0044705 paranasal sinus squamous cell carcinoma skos:closeMatch Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of the nasal cavity and paranasal sinuses MONDO:0044710 lip and oral cavity squamous cell carcinoma skos:closeMatch Orphanet:502369 Squamous cell carcinoma of oral cavity and lip semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of oral cavity and lip -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, mitochondrial, and ataxia -MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, mitochondrial, and ataxia MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617675 +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, mitochondrial, and ataxia +MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome skos:closeMatch OMIM:617675 myopathy, mitochondrial, and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, mitochondrial, and ataxia MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch Orphanet:502444 Alkaline ceramidase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617762 MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label leukodystrophy, progressive, early childhood-onset MONDO:0044718 alkaline ceramidase 3 deficiency skos:closeMatch OMIM:617762 leukodystrophy, progressive, early childhood-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym leukodystrophy, progressive, early childhood-onset @@ -33897,51 +33905,51 @@ MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym birk-landau-perez syndrome MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch Orphanet:505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617595 MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome skos:closeMatch OMIM:617595 birk-landau-perez syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label birk-landau-perez syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome -MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch OMIM:617557 gabriele-de vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch NCIT:C165531 Gabriele-de Vries Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617557 +MONDO:0044738 Gabriele de Vries syndrome skos:closeMatch Orphanet:506358 Gabriele-de Vries syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gabriele-de vries syndrome MONDO:0044740 salivary gland squamous cell carcinoma skos:closeMatch Orphanet:500481 Squamous cell carcinoma of salivary glands semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label squamous cell carcinoma of salivary glands -MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prekallikrein deficiency -MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label prekallikrein deficiency MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym prekallikrein deficiency +MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label prekallikrein deficiency +MONDO:0044744 prekallikrein deficiency skos:exactMatch OMIM:612423 prekallikrein deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym prekallikrein deficiency MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nervous system injury MONDO:0044745 nervous system injury skos:exactMatch NCIT:C4974 Nervous System Injury semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nervous system injury MONDO:0044765 steroid-resistant nephrotic syndrome skos:closeMatch OMIM:600995 nephrotic syndrome, iia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym nephrotic syndrome, steroid-resistant, autosomal recessive -MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof10 MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym menopause, natural, age at, quantitative trait locus type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0044776 premature ovarian failure 10 skos:closeMatch OMIM:612885 premature ovarian failure 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pof10 MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma skos:closeMatch Orphanet:86893 Nodular lymphocyte predominant Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1334968 -MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 +MONDO:0044786 solid pseudopapillary neoplasm of the pancreas skos:exactMatch Orphanet:424065 Solid pseudopapillary carcinoma of pancreas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym solid pseudopapillary neoplasm of the pancreas +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented moles +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital pigmented nevus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318558 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanocytic nevus syndrome, congenital MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital melanocytic nevus MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spitz nevus MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym melanocytic nevus syndrome, congenital -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1318558 -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137550 -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented moles -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C27007 Spitz Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spitz nevus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label melanocytic nevus syndrome, congenital MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C4498 Nevus Spilus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nevus spilus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym giant congenital pigmented nevus -MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842036 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10072036 MONDO:0044792 large congenital melanocytic nevus skos:closeMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nevus spilus +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1842036 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch Orphanet:626 Large congenital melanocytic nevus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137550 +MONDO:0044792 large congenital melanocytic nevus skos:closeMatch NCIT:C27007 Spitz Nevus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spitz nevus MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spitz nevus MONDO:0044793 spitz nevus skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spitz nevus -MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia +MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym idiopathic torsion dystonia MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia -MONDO:0044811 idiopathic torsion dystonia skos:closeMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans +MONDO:0044811 idiopathic torsion dystonia skos:exactMatch Orphanet:256 Early-onset generalized limb-onset dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic torsion dystonia MONDO:0044871 dystonia, focal, task-specific skos:closeMatch OMIM:611284 dystonia, focal, task-specific semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym musicians dystonia semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0044876 drug hypersensitivity syndrome skos:exactMatch Orphanet:139402 Drug reaction with eosinophilia and systemic symptoms semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label drug reaction with eosinophilia and systemic symptoms -MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label myelofibrosis +MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis MONDO:0044903 myelofibrosis skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label myelofibrosis MONDO:0044970 mitochondrial disease skos:exactMatch Orphanet:68380 Mitochondrial disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mitochondrial disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -33951,75 +33959,75 @@ MONDO:0045022 disorder of organic acid metabolism skos:exactMatch NCIT:C101334 O MONDO:0045024 cancer or benign tumor skos:closeMatch NCIT:C3262 Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label neoplasm MONDO:0045042 restricted to specific location skos:exactMatch NCIT:C14146 Localized semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label localized MONDO:0045045 selective IgG immunodeficiency skos:closeMatch Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162539 -MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym toxemia of pregnancy MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym toxemia of pregnancy -MONDO:0045057 delirium skos:narrowMatch ICD10WHO:F05.8 Other delirium semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym delirium semapv:RegularExpressionReplacement +MONDO:0045048 toxemia of pregnancy skos:exactMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym toxemia of pregnancy MONDO:0045057 delirium skos:closeMatch NCIT:C34868 Organic Brain Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic brain syndrome -MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0045057 delirium skos:narrowMatch ICD10WHO:F05.8 Other delirium semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym delirium semapv:RegularExpressionReplacement MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch Orphanet:777 X-linked non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 -MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 +MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, x-linked type 107 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:912 Zellweger syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 +MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:772 Infantile Refsum disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 +MONDO:0054549 peroxisome biogenesis disorder 10B skos:closeMatch Orphanet:44 Neonatal adrenoleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617370 MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608805 -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head -MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, aseptic necrosis of +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym femoral head, avascular necrosis of +MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ischemic necrosis of femoral head MONDO:0054550 avascular necrosis of femoral head, primary, 1 skos:closeMatch OMIM:608805 avascular necrosis of femoral head, primary, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteonecrosis of femoral head MONDO:0054551 avascular necrosis of femoral head, primary, 2 skos:closeMatch Orphanet:86820 Familial avascular necrosis of femoral head semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617383 MONDO:0054559 congenital disorder of glycosylation, type IIq skos:closeMatch Orphanet:435934 COG2-CDG semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617395 +MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607095 MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondyloepimetaphyseal dysplasia, anauxetic type -MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch OMIM:607095 anauxetic dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anauxetic dysplasia MONDO:0054560 anauxetic dysplasia 1 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anauxetic dysplasia MONDO:0054561 anauxetic dysplasia 2 skos:closeMatch Orphanet:93347 Anauxetic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617396 +MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617405 MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label short-rib thoracic dysplasia type 17 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly skos:closeMatch Orphanet:93426 Ciliopathies with major skeletal involvement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617405 MONDO:0054577 bleeding disorder, platelet-type, 21 skos:closeMatch Orphanet:851 Paris-Trousseau thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617443 -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107480 -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anus, imperforate, with hand, foot, and ear anomalies MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym deafness, sensorineural, with imperforate anus and thumb anomalies -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome -MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym renal-ear-anal-radial syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107480 +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rear syndrome +MONDO:0054581 Townes-Brocks syndrome 1 skos:closeMatch OMIM:107480 townes-brocks syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym townes-brocks-branchiootorenal-like syndrome MONDO:0054582 Townes-Brocks syndrome 2 skos:closeMatch Orphanet:857 Townes-Brocks syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617466 MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617506 MONDO:0054593 microcephaly 18, primary, autosomal dominant skos:closeMatch Orphanet:2514 Autosomal dominant primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617520 MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 skos:closeMatch Orphanet:2744 Horizontal gaze palsy with progressive scoliosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617542 MONDO:0054615 spermatogenic failure 18 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617576 -MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617616 MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch OMIM:617616 skraban-deardorff syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intellectual disability with seizures, abnormal gait, and distinctive facial features -MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tosti syndrome +MONDO:0054636 Skraban-Deardorff syndrome skos:closeMatch Orphanet:513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617616 MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607721 +MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 skos:closeMatch OMIM:607721 noonan syndrome-like disorder with loose anagen hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tosti syndrome MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch Orphanet:611247 Pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch OMIM:617765 immunodeficiency, common variable, 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency, common variable, type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 6, with fiber-type disproportion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch Orphanet:2020 Congenital fiber-type disproportion myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617760 MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion skos:closeMatch OMIM:617760 myopathy, centronuclear, 6, with fiber-type disproportion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 6, with fiber-type disproportion semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch OMIM:617638 immunodeficiency 11b with atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic dermatitis, elevated ige, and eosinophilia -MONDO:0054697 immunodeficiency 11b with atopic dermatitis skos:closeMatch NCIT:C176630 Immunodeficiency 11B with Atopic Dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 11b with atopic dermatitis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nakajo-nishimura syndrome MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 1, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation, lipodystrophy, and dermatosis syndrome MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jmp syndrome +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:256040 -MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nakajo-nishimura syndrome +MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 skos:closeMatch OMIM:256040 proteasome-associated autoinflammatory syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617591 MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 skos:closeMatch OMIM:617591 proteasome-associated autoinflammatory syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym proteasome-associated autoinflammatory syndrome type 3, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 skos:closeMatch Orphanet:324977 Proteasome-associated autoinflammatory syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618048 MONDO:0054701 Kleefstra syndrome 2 skos:closeMatch Orphanet:261652 Kleefstra syndrome due to a point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617768 -MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617781 MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617800 +MONDO:0054708 retinitis pigmentosa 80 skos:closeMatch Orphanet:791 Retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617781 MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch OMIM:617800 microcephaly 19, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 19, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054716 microcephaly 19, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617800 MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch OMIM:617809 geleophysic dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym geleophysic dysplasia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054722 geleophysic dysplasia 3 skos:closeMatch Orphanet:2623 Geleophysic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617809 @@ -34030,117 +34038,117 @@ MONDO:0054727 spermatogenic failure 23 skos:closeMatch Orphanet:399805 Male infe MONDO:0054729 spermatogenic failure 25 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617960 MONDO:0054731 spermatogenic failure 27 skos:closeMatch Orphanet:276234 Non-syndromic male infertility due to sperm motility disorder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617965 MONDO:0054732 spermatogenic failure 28 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618086 +MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch Orphanet:1052 Mosaic variegated aneuploidy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617598 -MONDO:0054736 mosaic variegated aneuploidy syndrome 3 skos:closeMatch OMIM:617598 mosaic variegated aneuploidy syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mosaic variegated aneuploidy syndrome type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations MONDO:0054737 Fraser syndrome 1 skos:closeMatch NCIT:C118436 Fraser Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219000 MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos with other malformations +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome MONDO:0054737 Fraser syndrome 1 skos:closeMatch OMIM:219000 fraser syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fraser syndrome MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fraser syndrome -MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cryptophthalmos-syndactyly syndrome +MONDO:0054737 Fraser syndrome 1 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219000 MONDO:0054738 Fraser syndrome 2 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617666 MONDO:0054739 Fraser syndrome 3 skos:closeMatch Orphanet:2052 Fraser syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617667 -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119580 MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:119580 -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectropion, inferior, with cleft type 51p and/or palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch Orphanet:1997 Blepharo-cheilo-odontic syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lagophthalmia with bilateral cleft type 51p and palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bcd syndrome +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym clefting, ectropion, and conical teeth +MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectropion, inferior, with cleft type 51p and/or palate semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elschnig syndrome -MONDO:0054740 blepharocheilodontic syndrome 1 skos:closeMatch OMIM:119580 blepharocheilodontic syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blepharocheilodontic syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 skos:closeMatch Orphanet:457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617872 MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fanconi anemia, complementation group s MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch Orphanet:84 Fanconi anemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617883 MONDO:0054748 Fanconi anemia, complementation group S skos:closeMatch OMIM:617883 fanconi anemia, complementation group s semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fanconi anemia, complementation group s MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 skos:closeMatch Orphanet:803 Amyotrophic lateral sclerosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617892 +MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617900 MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch OMIM:617900 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym herpes simplex encephalitis, susceptibility to, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617900 -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617914 -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 +MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054761 microcephaly 20, primary, autosomal recessive skos:closeMatch OMIM:617914 microcephaly 20, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 20, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica -MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch Orphanet:319635 Amyloidosis cutis dyschromia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617920 MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis cutis dyschromica +MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054765 amyloidosis, primary localized cutaneous, 3 skos:closeMatch OMIM:617920 amyloidosis, primary localized cutaneous, 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyloidosis, primary localized cutaneous, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617927 MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch OMIM:617927 orofaciodigital syndrome 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ofds type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617927 MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym orofaciodigital syndrome type 18 semapv:RegularExpressionReplacement -MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054780 elliptocytosis 3 skos:closeMatch OMIM:617948 elliptocytosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, perinatal hemolytic, fatal or near-fatal +MONDO:0054776 epilepsy, familial focal, with variable foci 4 skos:closeMatch OMIM:617935 epilepsy, familial focal, with variable foci 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial focal, with variable foci type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054780 elliptocytosis 3 skos:closeMatch Orphanet:288 Hereditary elliptocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617948 +MONDO:0054780 elliptocytosis 3 skos:closeMatch OMIM:617948 elliptocytosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anemia, perinatal hemolytic, fatal or near-fatal MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 skos:closeMatch Orphanet:569290 Multiple mitochondrial dysfunctions syndrome type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617954 MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, nonsyndromic, autosomal recessive type 3, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies skos:closeMatch OMIM:617967 hydrocephalus, congenital, 3, with brain anomalies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydrocephalus, congenital, type 3, with brain anomalies semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054801 erythrocytosis, familial, 6 skos:closeMatch OMIM:617980 erythrocytosis, familial, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054802 erythrocytosis, familial, 7 skos:closeMatch OMIM:617981 erythrocytosis, familial, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythrocytosis, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617983 MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054804 microcephaly 21, primary, autosomal recessive skos:closeMatch OMIM:617983 microcephaly 21, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 21, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch OMIM:617984 microcephaly 22, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 22, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054805 microcephaly 22, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617984 -MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch OMIM:617985 microcephaly 23, primary, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microcephaly type 23, primary, autosomal recessive semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054806 microcephaly 23, primary, autosomal recessive skos:closeMatch Orphanet:2512 Autosomal recessive primary microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617985 MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch Orphanet:536532 Classical-like Ehlers-Danlos syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 -MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch OMIM:618027 coffin-siris syndrome 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label coffin-siris syndrome type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054831 Coffin-Siris syndrome 7 skos:closeMatch Orphanet:1465 Coffin-Siris syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618027 MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch Orphanet:98973 Posterior polymorphous corneal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym corneal dystrophy, posterior polymorphous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch OMIM:618031 corneal dystrophy, posterior polymorphous, 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label corneal dystrophy, posterior polymorphous, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD skos:closeMatch Orphanet:521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618036 -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613135 -MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dopamine transporter deficiency syndrome +MONDO:0054835 classic dopamine transporter deficiency syndrome skos:closeMatch Orphanet:238455 Infantile dystonia-parkinsonism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2751067 MONDO:0054836 parkinsonism-dystonia, infantile, 2 skos:closeMatch Orphanet:352649 Brain dopamine-serotonin vesicular transport disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618049 MONDO:0054837 intellectual disability, autosomal dominant 57 skos:closeMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal dominant type 57 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054837 intellectual disability, autosomal dominant 57 skos:closeMatch OMIM:618050 intellectual developmental disorder, autosomal dominant 57 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrd57 MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch Orphanet:730 Autosomal dominant polycystic kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618061 -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ciliary dyskinesia, primary, type 38 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch OMIM:618063 ciliary dyskinesia, primary, 38 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ciliary dyskinesia, primary, type 38, with or without situs inversus semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch Orphanet:244 Primary ciliary dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch Orphanet:2254 Pontocerebellar hypoplasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618065 +MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054846 epilepsy, familial adult myoclonic, 6 skos:closeMatch OMIM:618074 epilepsy, familial adult myoclonic, 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign adult familial myoclonic epilepsy type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cortical myoclonic tremor with epilepsy, familial, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0054847 epilepsy, familial adult myoclonic, 7 skos:closeMatch OMIM:618075 epilepsy, familial adult myoclonic, 7 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epilepsy, familial adult myoclonic, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054850 ovarian dysgenesis 6 skos:closeMatch Orphanet:243 46,XX gonadal dysgenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618078 MONDO:0054852 peeling skin syndrome 6 skos:closeMatch Orphanet:263548 Peeling skin syndrome type A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618084 MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch Orphanet:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618094 MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0054860 hearing loss, autosomal recessive 110 skos:closeMatch OMIM:618094 deafness, autosomal recessive 110 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 110 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt63 MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch Orphanet:178469 Autosomal dominant non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 +MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrt63 MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 63 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meconium ileus +MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym meconium ileus MONDO:0054868 meconium ileus skos:exactMatch OMIM:614665 meconium ileus semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label meconium ileus -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym germinal cell aplasia -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sertoli cell-only syndrome MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym del castillo syndrome +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spermatogenic failure, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch NCIT:C168988 Sertoli Cell-Only Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sertoli cell-only syndrome +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch Orphanet:399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305700 MONDO:0056797 neurodevelopmental disorder with midbrain and hindbrain malformations skos:closeMatch Orphanet:808 Seckel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617523 MONDO:0056798 disorder of appendix skos:exactMatch NCIT:C173799 Appendix Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label appendix disorder semapv:RegularExpressionReplacement MONDO:0056822 amyotonia congenita skos:closeMatch OMIM:205000 amyotonia congenita semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oppenheim disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34150,9 +34158,9 @@ MONDO:0060456 cerebral sclerosis, diffuse, scholz type skos:closeMatch Orphanet: MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoinflammation with arthritis and dyskeratosis MONDO:0060457 autoinflammation with arthritis and dyskeratosis skos:closeMatch OMIM:617388 autoinflammation with arthritis and dyskeratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoinflammation with arthritis and dyskeratosis MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch Orphanet:2680 Hypomyelination neuropathy-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sry-negative -MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 46,xx sex reversal type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060489 46,XX sex reversal 4 skos:closeMatch OMIM:617480 46,xx sex reversal 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx sex reversal, sry-negative MONDO:0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies skos:closeMatch Orphanet:544469 PRUNE1-related neurological syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617481 MONDO:0060491 neurodevelopmental disorder with involuntary movements skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617493 MONDO:0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness skos:closeMatch OMIM:617519 neurodevelopmental disorder with hypotonia, neuropathy, and deafness semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, congenital, with neuropathy and deafness @@ -34162,22 +34170,22 @@ MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:61759 MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maai deficiency MONDO:0060527 maleylacetoacetate isomerase deficiency skos:closeMatch OMIM:617596 maleylacetoacetate isomerase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypersuccinylacetonemia, mild MONDO:0060533 microcephaly, short stature, and limb abnormalities skos:closeMatch Orphanet:572773 Microcephaly-short stature-limb abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617604 +MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617660 MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital nad deficiency disorder type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch OMIM:617660 vertebral, cardiac, renal, and limb defects syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 3-hydroxyanthranilic acidemia -MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617660 MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital nad deficiency disorder type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch OMIM:617661 vertebral, cardiac, renal, and limb defects syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kynureninase deficiency, complete MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 skos:closeMatch Orphanet:521438 Congenital vertebral-cardiac-renal anomalies syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617661 MONDO:0060556 joint laxity, short stature, and myopia skos:closeMatch Orphanet:527450 Severe myopia-generalized joint laxity-short stature syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617662 MONDO:0060562 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities skos:closeMatch OMIM:617668 encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lipoyltransferase type 2 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0060564 HELIX syndrome skos:closeMatch OMIM:617671 helix syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia MONDO:0060564 HELIX syndrome skos:closeMatch Orphanet:528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617671 +MONDO:0060564 HELIX syndrome skos:closeMatch OMIM:617671 helix syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch OMIM:617682 pilarowski-bjornsson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay and speech apraxia with or without seizures MONDO:0060568 Pilarowski-Bjornsson syndrome skos:closeMatch Orphanet:529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617682 MONDO:0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures skos:closeMatch Orphanet:88616 Autosomal recessive non-syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617709 MONDO:0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures skos:closeMatch Orphanet:572798 WARS2-related combined oxidative phosphorylation defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617710 -MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy and optic atrophy MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label auditory neuropathy and optic atrophy +MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch OMIM:617717 auditory neuropathy and optic atrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym auditory neuropathy and optic atrophy MONDO:0060582 auditory neuropathy-optic atrophy syndrome skos:closeMatch Orphanet:542585 Auditory neuropathy-optic atrophy syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617717 MONDO:0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617755 MONDO:0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia skos:closeMatch OMIM:617780 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym methylenetetrahydrofolate dehydrogenase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34187,20 +34195,20 @@ MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatc MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 skos:closeMatch OMIM:617810 glycosylphosphatidylinositol biosynthesis defect 15 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym developmental delay, epilepsy, cerebellar atrophy, and osteopenia MONDO:0060631 Alkuraya-Kucinskas syndrome skos:closeMatch Orphanet:610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617822 MONDO:0060659 neurodevelopmental disorder with poor language and loss of hand skills skos:closeMatch Orphanet:3095 Atypical Rett syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617903 -MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital heart defects, multiple types, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060663 congenital heart defects, multiple types, 5 skos:closeMatch OMIM:617912 congenital heart defects, multiple types, 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital heart defects, multiple types, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 skos:closeMatch Orphanet:307 Juvenile myoclonic epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617924 MONDO:0060688 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency skos:closeMatch OMIM:617953 hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of t4 -MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arene oxide detoxification defect +MONDO:0060690 phenytoin toxicity skos:closeMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fetal hydantoin syndrome +MONDO:0060690 phenytoin toxicity skos:closeMatch OMIM:617955 phenytoin toxicity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arene oxide detoxification defect MONDO:0060690 phenytoin toxicity skos:closeMatch Orphanet:1912 Fetal hydantoin syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome -MONDO:0060690 phenytoin toxicity skos:closeMatch NCIT:C98927 Fetal Hydantoin Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label fetal hydantoin syndrome MONDO:0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures skos:closeMatch OMIM:617977 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym elhattab-alkuraya syndrome MONDO:0060707 Ververi-Brady syndrome skos:closeMatch Orphanet:580940 QRICH1-related intellectual disability-chondrodysplasia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617982 MONDO:0060714 tumoral calcinosis, hyperphosphatemic, familial, 2 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617993 MONDO:0060715 tumoral calcinosis, hyperphosphatemic, familial, 3 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617994 -MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch OMIM:618021 tetraamelia syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetraamelia syndrome type 2 with pulmonary agenesis semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0060732 tetraamelia syndrome 2 skos:closeMatch Orphanet:3301 Tetraamelia-multiple malformations syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618021 MONDO:0060733 humerofemoral hypoplasia with radiotibial ray deficiency skos:closeMatch OMIM:618022 humerofemoral hypoplasia with radiotibial ray deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hfhrtrd MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch Orphanet:597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 MONDO:0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities skos:closeMatch OMIM:618089 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with dysmorphic facies and behavioral abnormalities @@ -34213,14 +34221,14 @@ MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotub MONDO:0060778 adult Fanconi syndrome skos:exactMatch OMIM:134600 fanconi renotubular syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym adult fanconi syndrome MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 MONDO:0100003 susceptibility to angioedema induced by ACE inhibitors skos:closeMatch Orphanet:91385 Acquired angioedema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300909 -MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mast cell activation disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym mast cell activation syndrome semapv:RegularExpressionReplacement +MONDO:0100004 mast cell activation syndrome skos:narrowMatch ICD10CM:D89.49 Other mast cell activation disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym mast cell activation disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pityriasis rubra pilaris +MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris +MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032027 MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010916 -MONDO:0100017 pityriasis rubra pilaris skos:closeMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0032027 MONDO:0100017 pityriasis rubra pilaris skos:exactMatch Orphanet:2897 Pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris -MONDO:0100017 pityriasis rubra pilaris skos:exactMatch OMIM:173200 pityriasis rubra pilaris semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pityriasis rubra pilaris MONDO:0100025 epilepsy of infancy with migrating focal seizures skos:exactMatch Orphanet:293181 Malignant migrating focal seizures of infancy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy of infancy with migrating focal seizures MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym complex neurodevelopmental disorder MONDO:0100038 complex neurodevelopmental disorder skos:exactMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym complex neurodevelopmental disorder @@ -34234,32 +34242,32 @@ MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch Orpha MONDO:0100050 Usher syndrome, type 1D/F skos:closeMatch OMIM:601067 usher syndrome, iia 1d semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ush1d/f, cdh23/pcdh15, digenic MONDO:0100053 anaphylaxis skos:exactMatch NCIT:C50460 Anaphylactic Shock semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label anaphylactic shock MONDO:0100059 hypereosinophilia of undetermined significance skos:exactMatch NCIT:C185725 Hypereosinophilia of Undetermined Significance semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypereosinophilia of undetermined significance -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071545 MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116552 Early Infantile Epileptic Encephalopathy with Burst-Suppression semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label early infantile epileptic encephalopathy with burst-suppression -MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:1934 Early infantile epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10071545 MONDO:0100062 developmental and epileptic encephalopathy skos:exactMatch NCIT:C116529 Infantile Spasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile spasm -MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency +MONDO:0100062 developmental and epileptic encephalopathy skos:closeMatch Orphanet:3451 Infantile spasms syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0037769 MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency +MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch Orphanet:101150 Autosomal recessive dopa-responsive dystonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100064 tyrosine hydroxylase deficiency skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tyrosine hydroxylase deficiency MONDO:0100075 jaw fracture skos:exactMatch NCIT:C26803 Jaw Fracture semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label jaw fracture -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607208 -MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dravet syndrome +MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100079 developmental and epileptic encephalopathy, 6 skos:closeMatch NCIT:C116573 Dravet Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dravet syndrome MONDO:0100081 sleep disorder skos:closeMatch NCIT:C94836 Parasomnia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label parasomnia MONDO:0100082 LEOPARD syndrome 1 skos:closeMatch Orphanet:500 Noonan syndrome with multiple lentigines semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:151100 -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet disorder, familial, with associated myeloid malignancy -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, aspirin-like -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, familial, with associated myeloid malignancy +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial thrombocytopenia with propensity to acute myelogenous leukemia MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch Orphanet:71290 Familial platelet disorder with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601399 -MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:exactMatch NCIT:C162696 Familial Platelet Disorder with Associated Myeloid Malignancy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial platelet disorder with associated myeloid malignancy +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, aspirin-like +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label platelet disorder, familial, with associated myeloid malignancy +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym platelet disorder, familial, with associated myeloid malignancy +MONDO:0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 skos:closeMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopenia, familial, with propensity to acute myelogenous leukemia MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label perinatal disorder MONDO:0100086 perinatal disease skos:exactMatch NCIT:C35095 Perinatal Disorder semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label perinatal disorder semapv:RegularExpressionReplacement MONDO:0100087 familial Alzheimer disease skos:exactMatch Orphanet:1020 Early-onset autosomal dominant Alzheimer disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym familial alzheimer disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34277,21 +34285,21 @@ MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De MONDO:0100126 P5CS deficiency skos:exactMatch Orphanet:35664 ALDH18A1-related De Barsy syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym p5cs deficiency MONDO:0100129 intracranial arachoid cyst skos:closeMatch Orphanet:2356 Arachnoid cyst semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207790 MONDO:0100133 mitochondrial complex I deficiency skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936907 -MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dravet syndrome +MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome +MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dravet syndrome MONDO:0100135 Dravet syndrome skos:exactMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome MONDO:0100135 Dravet syndrome skos:closeMatch Orphanet:33069 Dravet syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751122 -MONDO:0100135 Dravet syndrome skos:exactMatch OMIM:607208 dravet syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label dravet syndrome MONDO:0100144 Uner Tan Syndrome skos:exactMatch Orphanet:1766 Dysequilibrium syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uner tan syndrome MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:411629 Infantile nephropathic cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 MONDO:0100151 nephropathic cystinosis skos:closeMatch Orphanet:213 Cystinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:219800 -MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261100 MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:exactMatch Orphanet:67046 3-methylglutaconic aciduria type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mga1 +MONDO:0100156 Imerslund-Grasbeck syndrome type 1 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261100 MONDO:0100157 Imerslund-Grasbeck syndrome type 2 skos:closeMatch Orphanet:35858 Imerslund-Gräsbeck syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618882 -MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1833104 +MONDO:0100164 permanent neonatal diabetes mellitus skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:79134 DEND syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym diabetes mellitus, permanent, of infancy MONDO:0100165 permanent neonatal diabetes mellitus 1 skos:closeMatch Orphanet:99885 Isolated permanent neonatal diabetes mellitus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606176 @@ -34300,20 +34308,20 @@ MONDO:0100169 polyneuropathy, inflammatory demyelinating, chronic skos:exactMatc MONDO:0100173 leukemia, acute myeloid, susceptibility to skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym leukemia, acute myeloid, susceptibility to MONDO:0100181 dermatitis, atopic, 1 skos:exactMatch OMIM:603165 dermatitis, atopic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dermatitis, atopic, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100183 radioulnar synostosis, nonsyndromic, susceptibility to skos:closeMatch Orphanet:3269 Congenital radioulnar synostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:179300 +MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label gtp cyclohydrolase i deficiency -MONDO:0100184 GTP cyclohydrolase I deficiency skos:exactMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100185 immune reconstitution inflammatory syndrome skos:closeMatch NCIT:C125712 Immune Reconstitution Inflammatory Syndrome Associated with Kaposi Sarcoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label immune reconstitution inflammatory syndrome associated with kaposi sarcoma -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase type 1 deficiency semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hyperphenylalaninemia, bh4-deficient, b MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, b -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0268467 -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 -MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch NCIT:C141442 GTP Cyclohydrolase I Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch Orphanet:2102 GTP cyclohydrolase I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gtp cyclohydrolase i deficiency +MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hyperphenylalaninemia, bh4-deficient, b MONDO:0100187 opioid-induced constipation skos:exactMatch NCIT:C148034 Opioid-Induced Constipation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label opioid-induced constipation MONDO:0100189 apolipoprotein A-I deficiency skos:exactMatch OMIM:618463 hypoalphalipoproteinemia, primary, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym apolipoprotein a-i deficiency MONDO:0100190 gastric intestinal metaplasia skos:exactMatch NCIT:C8360 Intestinal Metaplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intestinal metaplasia @@ -34322,299 +34330,297 @@ MONDO:0100202 lumbar disc herniation, susceptibility to skos:exactMatch OMIM:603 MONDO:0100206 lumbar disc degeneration, susceptibility to skos:exactMatch OMIM:603932 intervertebral disc disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lumbar disc degeneration, susceptibility to MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:245590 MONDO:0100212 IFAP syndrome skos:exactMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ifap syndrome -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839988 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 -MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1839988 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536085 +MONDO:0100213 IFAP syndrome with or without BRESHECK syndrome skos:closeMatch Orphanet:85284 BRESEK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308205 MONDO:0100214 Rajab interstitial lung disease with brain calcifications skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym rajab interstitial lung disorder with brain calcifications semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613658 MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rajab syndrome +MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613658 MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620062 MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant skos:closeMatch Orphanet:220465 Laron syndrome with immunodeficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618985 MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 skos:closeMatch Orphanet:178506 Brain calcification, Rajab type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619013 MONDO:0100221 IFAP syndrome 2 skos:closeMatch Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619016 -MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:255241 Leigh syndrome with leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 -MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lama2-related muscular dystrophy +MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch Orphanet:2609 Isolated complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym lama2-related muscular dystrophy -MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100228 LAMA2-related muscular dystrophy skos:exactMatch Orphanet:207094 Laminin subunit alpha 2-related muscular dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lama2-related muscular dystrophy MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100231 psoriatic arthritis, susceptibility to, 1 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym psoriatic arthritis, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100233 long COVID-19 skos:exactMatch NCIT:C179263 Post-Acute Sequelae of COVID-19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label post-acute sequelae of covid-19 MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024790 MONDO:0100244 paroxysmal nocturnal hemoglobinuria skos:closeMatch Orphanet:447 Paroxysmal nocturnal hemoglobinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10034042 MONDO:0100247 multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch Orphanet:280633 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936419 -MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development -MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d058531 MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xx male, sry-positive +MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xx testicular disorder of sex development +MONDO:0100249 46,XX testicular disorder of sex development skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xx testicular disorder of sex development +MONDO:0100249 46,XX testicular disorder of sex development skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2748895 MONDO:0100250 46,XX sex reversal 1 skos:closeMatch OMIM:400045 46,xx sex reversal 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 46,xx true hermaphroditism, sry-positive -MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:393 46,XX testicular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 +MONDO:0100250 46,XX sex reversal 1 skos:closeMatch Orphanet:2138 46,XX ovotesticular disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:400045 +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morbus teutschlaender +MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis with hyperphosphatemia MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lipocalcinogranulomatosis MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cortical hyperostosis with hyperphosphatemia -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperostosis with hyperphosphatemia MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:closeMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tumoral calcinosis, hyperphosphatemic, familial, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym morbus teutschlaender -MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudothalidomide syndrome -MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268300 +MONDO:0100252 tumoral calcinosis, hyperphosphatemic, familial, 1 skos:closeMatch Orphanet:53715 Familial tumoral calcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211900 MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym roberts-sc phocomelia syndrome MONDO:0100253 Roberts-SC phocomelia syndrome skos:exactMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym roberts-sc phocomelia syndrome +MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268300 +MONDO:0100253 Roberts-SC phocomelia syndrome skos:closeMatch Orphanet:3103 Roberts syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudothalidomide syndrome MONDO:0100255 adenosine kinase deficiency skos:closeMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mental retardation, autosomal recessive type 8, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100255 adenosine kinase deficiency skos:closeMatch Orphanet:289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614300 -MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency +MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glyceronephosphate o-acyltransferase deficiency MONDO:0100273 glyceronephosphate O-acyltransferase deficiency skos:exactMatch OMIM:222765 rhizomelic chondrodysplasia punctata, iia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gnpat deficiency +MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym agps deficiency -MONDO:0100274 alkylglycerone-phosphate synthase deficiency skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, iia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alkylglycerone-phosphate synthase deficiency MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 -MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10047801 +MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0024419 +MONDO:0100280 Waldenstrom macroglobulinemia skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008258 MONDO:0100281 macroglobulinemia, Waldenstrom, 1 skos:closeMatch Orphanet:33226 Waldenström macroglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:153600 MONDO:0100282 SC phocomelia syndrome skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym sc phocomelia syndrome MONDO:0100285 extrahepatic biliary atresia skos:closeMatch Orphanet:30391 Isolated biliary atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210500 -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849394 -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis with early nyctalopia -MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268100 MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym enhanced s-cone syndrome MONDO:0100288 enhanced S-cone syndrome skos:exactMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym enhanced s-cone syndrome -MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym goldmann-favre syndrome +MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849394 +MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:268100 +MONDO:0100288 enhanced S-cone syndrome skos:closeMatch Orphanet:53540 Goldmann-Favre syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinoschisis with early nyctalopia MONDO:0100289 Goldmann-Favre syndrome skos:closeMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym favre hyaloideoretinal degeneration +MONDO:0100289 Goldmann-Favre syndrome skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym goldmann-favre syndrome MONDO:0100292 Carey-Fineman-Ziter syndrome 2 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619941 MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch Orphanet:3208 Isolated succinate-CoQ reductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252011 -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch NCIT:C187258 Succinate Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinate dehydrogenase deficiency -MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate dehydrogenase deficiency MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate coq reductase deficiency -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2609071 +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch OMIM:252011 mitochondrial complex 2 deficiency, nuclear iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym succinate dehydrogenase deficiency +MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 skos:closeMatch NCIT:C187258 Succinate Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label succinate dehydrogenase deficiency MONDO:0100296 Olmsted syndrome 1 skos:closeMatch Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 MONDO:0100302 LADD syndrome 1 skos:closeMatch Orphanet:2363 Lacrimoauriculodentodigital syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:149730 MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:312 Autosomal dominant epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 MONDO:0100303 ichthyosis, annular epidermolytic 1 skos:closeMatch Orphanet:281139 Annular epidermolytic ichthyosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607602 MONDO:0100308 atactic disorder skos:closeMatch NCIT:C26702 Ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ataxia -MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:101016 Romano-Ward syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10039211 -MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100316 long QT syndrome 1 skos:closeMatch Orphanet:768 Familial long QT syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:192500 MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:613688 long qt syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1/2, digenic semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100316 long QT syndrome 1 skos:closeMatch OMIM:192500 long qt syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym long qt syndrome type 1, acquired, susceptibility to semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch OMIM:184260 odontochondrodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with dentinogenesis imperfecta MONDO:0100325 odontochondrodysplasia 1 skos:closeMatch Orphanet:166272 Odontochondrodysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184260 +MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glanzmann thrombasthenia MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glanzmann thrombasthenia -MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glanzmann thrombasthenia MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanzmann thrombasthenia -MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glanzmann thrombasthenia +MONDO:0100326 Glanzmann thrombasthenia skos:exactMatch NCIT:C61249 Glanzmann Thrombasthenia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glanzmann thrombasthenia MONDO:0100327 hypercholanemia, familial skos:exactMatch Orphanet:238475 Familial hypercholanemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial hypercholanemia MONDO:0100330 disease arising from reactivation of latent virus skos:exactMatch NCIT:C9494 Latent Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label latent infection MONDO:0100338 urinary tract infection skos:exactMatch NCIT:C50791 Urinary Tract Infection semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label urinary tract infection -MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017374 +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:closeMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym friedreich ataxia with retained reflexes +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia +MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich ataxia MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 -MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005621 +MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10017374 +MONDO:0100339 Friedreich ataxia skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0016719 +MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia MONDO:0100339 Friedreich ataxia skos:exactMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:closeMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym friedreich ataxia with retained reflexes -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label friedreich ataxia -MONDO:0100339 Friedreich ataxia skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label friedreich ataxia MONDO:0100340 Friedreich ataxia 1 skos:closeMatch Orphanet:95 Friedreich ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:229300 MONDO:0100342 malignant glioma skos:closeMatch Orphanet:182067 Glial tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10018338 +MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 MONDO:0100344 Bartter disease type 1 skos:closeMatch OMIM:601678 bartter syndrome, iia 1, antenatal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypokalemic alkalosis with hypercalciuria type 1, antenatal semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100344 Bartter disease type 1 skos:exactMatch NCIT:C178412 Bartter Syndrome, Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label bartter syndrome, type 1 -MONDO:0100344 Bartter disease type 1 skos:closeMatch Orphanet:112 Bartter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601678 MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement MONDO:0100345 lactose intolerance skos:narrowMatch ICD10CM:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement +MONDO:0100345 lactose intolerance skos:closeMatch OMIM:223100 lactose intolerance, adult iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase persistence MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement MONDO:0100345 lactose intolerance skos:narrowMatch ICD10WHO:E73.8 Other lactose intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasBroadSynonym lactose intolerance semapv:RegularExpressionReplacement -MONDO:0100345 lactose intolerance skos:closeMatch OMIM:223100 lactose intolerance, adult iia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lactase persistence -MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumors, intestinal MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym carcinoid tumors, intestinal +MONDO:0100347 carcinoid syndrome skos:closeMatch OMIM:114900 carcinoid tumors, intestinal semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label carcinoid tumors, intestinal MONDO:0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619091 MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym coach syndrome MONDO:0100349 COACH syndrome skos:exactMatch OMIM:216360 coach syndrome 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome with congenital hepatic fibrosis MONDO:0100349 COACH syndrome skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1857662 +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128200 +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal kinesigenic dyskinesia MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic choreoathetosis -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial paroxysmal MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal kinesigenic dyskinesia -MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch Orphanet:98809 Paroxysmal kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:128200 +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia, familial paroxysmal +MONDO:0100352 episodic kinesigenic dyskinesia 1 skos:closeMatch OMIM:128200 episodic kinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal kinesigenic dyskinesia MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249210 MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 skos:closeMatch Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1608393 -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:204100 leber congenital amaurosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100368 RPE65-related recessive retinopathy skos:closeMatch OMIM:613794 retinitis pigmentosa 20 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 20 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100428 progressive bulbar palsy of childhood skos:closeMatch Orphanet:97229 Riboflavin transporter deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:211500 MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 MONDO:0100429 intrahepatic cholestasis of pregnancy skos:closeMatch Orphanet:69665 Intrahepatic cholestasis of pregnancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535932 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 semapv:RegularExpressionReplacement +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255800 MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch OMIM:255800 schwartz-jampel syndrome, iia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chondrodystrophic myotonia -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 semapv:RegularExpressionReplacement MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym schwartz-jampel syndrome type 1 -MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:closeMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255800 +MONDO:0100435 Schwartz-Jampel syndrome type 1 skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym schwartz-jampel syndrome type 1 MONDO:0100436 cataract 2, multiple types skos:closeMatch Orphanet:91492 Early-onset non-syndromic cataract semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604307 +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod degeneration, x-linked +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch Orphanet:156171 Retinal ciliopathy due to mutation in the RPGR gene semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinal ciliopathy due to mutation in the rpgr gene MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 3 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod degeneration, x-linked -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 15 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:300029 retinitis pigmentosa 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 3 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement -MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy, x-linked, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement +MONDO:0100437 RPGR-related retinopathy skos:closeMatch OMIM:304020 cone-rod dystrophy, x-linked, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone dystrophy type 1, x-linked semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa, juvenile, aipl1-related -MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 4 semapv:RegularExpressionReplacement +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 4 semapv:RegularExpressionReplacement +MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604393 leber congenital amaurosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy, aipl1-related MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:604011 UNC119 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0100438 AIPL1-related retinopathy skos:closeMatch OMIM:120970 cone-rod dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd ixa2 MONDO:0100439 glycogen storage disease IXa2 skos:exactMatch OMIM:306000 glycogen storage disease ixa1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder ixa2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:303100 choroideremia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal dystrophy, central areolar +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label choroidal dystrophy, central areolar, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100441 GUCY2D-related dominant retinopathy skos:closeMatch OMIM:215500 choroidal dystrophy, central areolar, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym choroidal sclerosis +MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100442 RP2-related retinopathy skos:closeMatch OMIM:312600 retinitis pigmentosa 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus -MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus -MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens +MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus +MONDO:0100443 RDH5-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym vasterbotten dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy +MONDO:0100443 RDH5-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:52427 Retinitis punctata albescens semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym vasterbotten dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bothnia retinal dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym västerbotten dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym newfoundland rod-cone dystrophy -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:227796 Fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus -MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607475 bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bothnia retinal dystrophy -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym fundus albipunctatus +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:607476 newfoundland rod-cone dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label newfoundland rod-cone dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch Orphanet:85128 Bothnia retinal dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bothnia retinal dystrophy +MONDO:0100444 RLBP1-related retinopathy skos:closeMatch OMIM:136880 fundus albipunctatus semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis punctata albescens MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 5 semapv:RegularExpressionReplacement +MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100445 LCA5-related retinopathy skos:closeMatch OMIM:604537 leber congenital amaurosis 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 5 semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm1, formerly -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym total colorblindness with myopia -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia with myopia MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym total colorblindness with myopia MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm1, formerly MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia with myopia +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 3 semapv:RegularExpressionReplacement +MONDO:0100446 CNGB3-related retinopathy skos:closeMatch OMIM:262300 achromatopsia 3 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 1, formerly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement -MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100447 ATF6-related retinopathy skos:closeMatch OMIM:616517 achromatopsia 7 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 7 semapv:RegularExpressionReplacement +MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement -MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100448 RAB28-related retinopathy skos:closeMatch OMIM:615374 cone-rod dystrophy 18 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 18 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym autosomal recessive posterior column ataxia and retinitis pigmentosa MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch Orphanet:88628 Posterior column ataxia-retinitis pigmentosa syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia-retinitis pigmentosa syndrome -MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia with retinitis pigmentosa MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym posterior column ataxia with retinitis pigmentosa +MONDO:0100449 FLVCR1-related retinopathy with or without ataxia skos:closeMatch OMIM:609033 posterior column ataxia with retinitis pigmentosa semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label posterior column ataxia with retinitis pigmentosa MONDO:0100450 CAPN5-related vitreoretinopathy skos:closeMatch Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193235 +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611134 meckel syndrome, iia 4 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym meckel-like cerebrorenodigital syndrome -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label senior-loken syndrome type 6 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:611755 leber congenital amaurosis 10 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 10 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement +MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610188 joubert syndrome 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label joubert syndrome type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:610189 senior-loken syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym senior-loken syndrome type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100451 CEP290-related ciliopathy skos:closeMatch OMIM:615991 bardet-biedl syndrome 14 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label bardet-biedl syndrome type 14 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100452 RPE65-related dominant retinopathy skos:closeMatch OMIM:618697 retinitis pigmentosa 87 with choroidal involvement semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 87 with choroidal involvement semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal blindness, congenital -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement -MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label cone-rod dystrophy type 6 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200400 +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal cone dystrophy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:601777 cone-rod dystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym cone-rod dystrophy type 6 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinal blindness, congenital +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 1 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 1 semapv:RegularExpressionReplacement +MONDO:0100453 GUCY2D-related recessive retinopathy skos:closeMatch OMIM:204000 leber congenital amaurosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym amaurosis congenita of leber type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536011 +MONDO:0100457 achalasia, familial esophageal skos:closeMatch Orphanet:930 Idiopathic achalasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:200400 MONDO:0100459 azoospermia skos:exactMatch NCIT:C80076 Azoospermia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label azoospermia MONDO:0100460 tobacco addiction, susceptibility to skos:exactMatch OMIM:612052 smoking as a quantitative trait locus 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nicotine dependence, susceptibility to MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans skos:closeMatch Orphanet:251262 Familial osteochondritis dissecans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:165800 MONDO:0100464 acid sphingomyelinase deficiency skos:exactMatch Orphanet:618899 Acid sphingomyelinase deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acid sphingomyelinase deficiency -MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count -MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch Orphanet:275555 Preeclampsia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:189800 -MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608709 +MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypertension, pregnancy-induced +MONDO:0100467 preeclampsia/eclampsia 1 skos:closeMatch OMIM:189800 preeclampsia/eclampsia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hemolysis, elevated liver enzymes, and low platelet count MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym barraquer-simons syndrome +MONDO:0100476 lipodystrophy, partial, acquired, susceptibility to skos:closeMatch Orphanet:79087 Acquired partial lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608709 MONDO:0100478 brain malformations with or without urinary tract defects skos:closeMatch Orphanet:401986 1p31p32 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613735 MONDO:0100480 autoimmune primary adrenal insufficiency skos:closeMatch Orphanet:85138 Addison disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autoimmune adrenalitis -MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100484 TSPAN12-related vitreoretinopathy skos:closeMatch OMIM:613310 exudative vitreoretinopathy 5 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label exudative vitreoretinopathy type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch Orphanet:26106 Hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia +MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch NCIT:C118459 Amastia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amastia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amastia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amazia +MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch OMIM:113700 breasts and/or nipples, aplasia or hypoplasia of, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym athelia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch Orphanet:180188 Isolated congenital breast hypoplasia/aplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:113700 -MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 skos:closeMatch NCIT:C118459 Amastia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amastia -MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343055 MONDO:0100491 generalized pustular psoriasis skos:exactMatch OMIM:614204 psoriasis 14, pustular semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym generalized pustular psoriasis +MONDO:0100491 generalized pustular psoriasis skos:closeMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0343055 MONDO:0100491 generalized pustular psoriasis skos:exactMatch Orphanet:247353 Generalized pustular psoriasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label generalized pustular psoriasis MONDO:0100501 body-stalk anomaly skos:exactMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym body stalk anomaly MONDO:0100501 body-stalk anomaly skos:closeMatch Orphanet:2369 Limb body wall complex semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label limb body wall complex +MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:617781 retinitis pigmentosa 80 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 80 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0100509 IFT140-related recessive ciliopathy skos:closeMatch OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym short-rib thoracic dysplasia type 9 with or without polydactyly semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0100515 mirror movements 1 and/or agenesis of the corpus callosum skos:exactMatch OMIM:157600 mirror movements 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mirror movements type 1 and/or agenesis of the corpus callosum semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0400004 phrynoderma skos:exactMatch NCIT:C112827 Phrynoderma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label phrynoderma -MONDO:0600023 idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751356 MONDO:0600023 idiopathic inflammatory myopathy skos:exactMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic inflammatory myopathy +MONDO:0600023 idiopathic inflammatory myopathy skos:closeMatch Orphanet:98482 Idiopathic inflammatory myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0751356 MONDO:0600025 hydrosalpinx skos:exactMatch NCIT:C78293 Fallopian Tube Obstruction semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fallopian tube obstruction MONDO:0700005 idiopathic skos:exactMatch NCIT:C28242 Idiopathic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label idiopathic MONDO:0700035 monosomy chromosome 8 skos:closeMatch NCIT:C36535 Loss of Chromosome 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label loss of chromosome type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34625,80 +34631,80 @@ MONDO:0700039 bladder exstrophy-epispadias-cloacal extrophy complex skos:exactMa MONDO:0700041 neuroblastoma, susceptibility to, 2 skos:closeMatch Orphanet:635 Neuroblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613013 MONDO:0700062 mosaic skos:exactMatch NCIT:C88144 Mosaic semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label mosaic MONDO:0700063 complete skos:exactMatch NCIT:C25250 Complete semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label complete +MONDO:0700065 trisomy skos:exactMatch NCIT:C3421 Trisomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy MONDO:0700065 trisomy skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014314 MONDO:0700065 trisomy skos:closeMatch Orphanet:3375 Trisomy X semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d014314 -MONDO:0700065 trisomy skos:exactMatch NCIT:C3421 Trisomy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy -MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfa deficiency MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2a semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700073 glutaric acidemia IIa skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfa deficiency MONDO:0700074 glutaric acidemia IIb skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfb deficiency MONDO:0700074 glutaric acidemia IIb skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glutaric acidemia type 2c semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700076 glutaric acidemia IIc skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym etfdh deficiency -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome +MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rds of prematurity +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal respiratory distress syndrome MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant ards +MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infant acute respiratory distress syndrome MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infant respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym neonatal respiratory distress syndrome -MONDO:0700081 newborn respiratory distress syndrome skos:exactMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyaline membrane disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch OMIM:267450 respiratory distress syndrome 1n premature infants semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rds of prematurity -MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020192 MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0035220 -MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 +MONDO:0700081 newborn respiratory distress syndrome skos:closeMatch Orphanet:70587 Infant acute respiratory distress syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0020192 MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:886 Usher syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 +MONDO:0700087 Usher syndrome type 1B skos:closeMatch Orphanet:231169 Usher syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276900 MONDO:0700088 paroxysmal nonkinesigenic dyskinesia skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paroxysmal non-kinesigenic dyskinesia MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia type 8 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mount-reback syndrome -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065657 +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:118800 MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:98810 Paroxysmal non-kinesigenic dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10065658 +MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mount-reback syndrome MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, nonkinesigenic MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym choreoathetosis, familial paroxysmal -MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0700089 paroxysmal nonkinesigenic dyskinesia 1 skos:closeMatch Orphanet:1431 Paroxysmal dyskinesia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym paroxysmal dystonic choreoathetosis MONDO:0700090 epilepsy, familial temporal lobe, 1 skos:closeMatch Orphanet:101046 Autosomal dominant epilepsy with auditory features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600512 MONDO:0700107 chromosome 19q13.11 deletion syndrome, distal skos:closeMatch Orphanet:217346 19q13.11 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613026 MONDO:0700112 heterotaxy, visceral, 5, autosomal skos:closeMatch Orphanet:450 Heterotaxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:270100 MONDO:0700115 proliferative vitreoretinopathy skos:exactMatch OMIM:193235 vitreoretinopathy, neovascular inflammatory semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym proliferative vitreoretinopathy -MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch NCIT:C129866 Dopamine Transporter Deficiency Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dopamine transporter deficiency syndrome +MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome skos:exactMatch OMIM:613135 parkinsonism-dystonia 1, infantile-onset semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dopamine transporter deficiency syndrome MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch NCIT:C130986 Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700126 trisomy 21 skos:exactMatch NCIT:C43224 Trisomy 21 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0700126 trisomy 21 skos:exactMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700126 trisomy 21 skos:exactMatch Orphanet:870 Down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0700126 trisomy 21 skos:exactMatch OMIM:190685 down syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym trisomy type 21 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0700217 neonatal sepsis skos:exactMatch NCIT:C116802 Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis MONDO:0700226 food allergy skos:exactMatch NCIT:C172304 Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy MONDO:0800025 Teebi hypertelorism syndrome 1 skos:closeMatch Orphanet:1519 SPECC1L-related hypertelorism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145420 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275808 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haddad syndrome +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchs with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007982 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10066131 -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haddad syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cchs with hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym haddad syndrome -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:661 Congenital central hypoventilation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1275808 MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ondine-hirschsprung disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711381 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:209880 +MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:closeMatch Orphanet:99803 Haddad syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label haddad syndrome MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:221820 -MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847627 +MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 skos:closeMatch Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c3711381 MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606703 +MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant skos:closeMatch Orphanet:324588 Familial dyskinesia and facial myokymia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1847627 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:79126 Acute interstitial pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 -MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pulmonary fibrosis, idiopathic MONDO:0800029 interstitial lung disease 2 skos:closeMatch OMIM:178500 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym hamman-rich disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 +MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054990 MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 +MONDO:0800029 interstitial lung disease 2 skos:closeMatch Orphanet:2032 Idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10021240 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial intestinal polyatresia syndrome -MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:436252 Combined immunodeficiency-enteropathy spectrum semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 +MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch Orphanet:2300 Multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275210 MONDO:0800042 restrictive dermopathy 1 skos:closeMatch Orphanet:1662 Restrictive dermopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0406585 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 -MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796176 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601559 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0432240 +MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796176 MONDO:0800043 Stüve-Wiedemann syndrome 1 skos:closeMatch Orphanet:3206 Stüve-Wiedemann syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537502 MONDO:0800044 congenital disorder of deglycosylation 1 skos:closeMatch Orphanet:404454 Alacrimia-choreoathetosis-liver dysfunction syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615273 MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:476102 Hereditary pediatric Behçet-like disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 @@ -34706,51 +34712,51 @@ MONDO:0800046 thyroid hormone metabolism, abnormal 1 skos:closeMatch Orphanet:17 MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant skos:closeMatch Orphanet:140957 Autosomal dominant macrothrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613112 MONDO:0800096 abnormal mineralization disorder skos:closeMatch NCIT:C26838 Osteomalacia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteomalacia MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement +MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym retinitis pigmentosa type 33 semapv:RegularExpressionReplacement MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rp33 -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement -MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement +MONDO:0800098 SNRNP200-related dominant retinopathy skos:closeMatch OMIM:610359 retinitis pigmentosa 33 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label retinitis pigmentosa type 33 semapv:RegularExpressionReplacement MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca13 MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinitis pigmentosa type 53 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca9 +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 13 semapv:RegularExpressionReplacement +MONDO:0800099 RDH12-related recessive retinopathy skos:closeMatch OMIM:612712 leber congenital amaurosis 13 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 13 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch Orphanet:611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym shilca syndrome -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm2 -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym leber congenital amaurosis type 9 semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label leber congenital amaurosis type 9 semapv:RegularExpressionReplacement +MONDO:0800101 NMNAT1-related retinopathy skos:closeMatch OMIM:608553 leber congenital amaurosis 9 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym lca9 MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromacy type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym rod monochromatism type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achm2 MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement -MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colorblindness, total +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch OMIM:216900 achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800102 CNGA3-related retinopathy skos:closeMatch NCIT:C168757 Achromatopsia 2 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label achromatopsia type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800103 COACH syndrome 1 skos:closeMatch Orphanet:1454 Joubert syndrome with hepatic defect semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216360 -MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive +MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:619924 immunodeficiency 105 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800104 immunodeficiency 105 skos:closeMatch OMIM:608971 immunodeficiency 104 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive MONDO:0800113 necrotizing vasculitis skos:exactMatch Orphanet:52759 Vasculitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym systemic vasculitis MONDO:0800120 Mac-Leod-Swyer-James-Syndrome skos:exactMatch Orphanet:800 Schwartz-Jampel syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sjs MONDO:0800166 Knobloch syndrome skos:exactMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label knobloch syndrome -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849409 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267750 -MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kno MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym retinal detachment and occipital encephalocele -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007625 -MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036980 +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch OMIM:267750 knobloch syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kno +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:267750 +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1849409 +MONDO:0800167 Knobloch syndrome 1 skos:closeMatch Orphanet:1571 Knobloch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537209 MONDO:0800175 cardiogenic shock skos:exactMatch NCIT:C50482 Cardiogenic Shock semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cardiogenic shock +MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0036980 +MONDO:0800175 cardiogenic shock skos:closeMatch Orphanet:97292 Cardiogenic shock semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10007625 MONDO:0800187 immunodeficiency 83, susceptibility to viral infections skos:closeMatch Orphanet:1930 Herpes simplex virus encephalitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613002 MONDO:0800195 achalasia-alacrima syndrome skos:exactMatch OMIM:231550 achalasia-addisonianism-alacrima syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achalasia-alacrima syndrome MONDO:0800196 achromatopsia 5 skos:exactMatch OMIM:613093 cone dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym achromatopsia type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34770,11 +34776,11 @@ MONDO:0800224 amyotrophic lateral sclerosis, susceptibility to, 13 skos:exactMat MONDO:0800226 strabismus, susceptibility to, 1 skos:exactMatch OMIM:185100 strabismus, susceptibility to semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym strabismus, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800250 Graves disease, susceptibility to, X-linked 2 skos:exactMatch OMIM:300351 graves disease, susceptibility to, X-linked 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graves disorder, susceptibility to, x-linked type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800261 autoimmune thyroid disease, susceptibility to, 5 skos:exactMatch OMIM:601941 iia 1 diabetes mellitus 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune thyroid disorder, susceptibility to, type 5 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avc defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocardial cushion defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect -MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular septal defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym endocardial cushion defect +MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym avc defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label atrioventricular septal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:closeMatch Orphanet:98722 Atrioventricular septal defect semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atrioventricular canal defect MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMatch OMIM:606215 atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement @@ -34787,16 +34793,16 @@ MONDO:0800287 autism, susceptibility to, 14b skos:exactMatch OMIM:614671 chromos MONDO:0800290 Li-fraumeni-like syndrome skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym li-fraumeni-like syndrome MONDO:0800294 progressive encephalomyelitis with rigidity skos:exactMatch OMIM:184850 stiff-person syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym progressive encephalomyelitis with rigidity MONDO:0800296 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 skos:exactMatch OMIM:193220 vitreoretinochoroidopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microcornea, rod-cone dystrophy, cataract, and posterior staphyloma type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile skos:exactMatch Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lincl -MONDO:0800298 peroxisome biogenesis disorder, complementation group 2 skos:exactMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:0800297 neuronal ceroid lipofuscinosis, late infantile skos:exactMatch OMIM:204500 ceroid lipofuscinosis, neuronal, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neuronal ceroid lipofuscinosis, late infantile MONDO:0800298 peroxisome biogenesis disorder, complementation group 2 skos:exactMatch OMIM:620252 TMEM245 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cg2 +MONDO:0800298 peroxisome biogenesis disorder, complementation group 2 skos:exactMatch OMIM:214110 peroxisome biogenesis disorder 2a (zellweger) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym peroxisome biogenesis disorder, complementation group type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800299 myopathy, congenital, with excess of muscle spindles skos:exactMatch OMIM:218040 costello syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, congenital, with excess of muscle spindles MONDO:0800300 black locks with albinism and deafness syndrome skos:exactMatch OMIM:227010 ermine phenotype semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym black locks with albinism and deafness syndrome MONDO:0800301 Friedreich ataxia with retained reflexes skos:exactMatch OMIM:229300 friedreich ataxia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym friedreich ataxia with retained reflexes MONDO:0800302 glycogen storage disease Id skos:exactMatch OMIM:232240 glycogen storage disease ic semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder id semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement -MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch Orphanet:824 Primary myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia +MONDO:0800305 myelofibrosis with myeloid metaplasia skos:exactMatch OMIM:254450 myelofibrosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myelofibrosis with myeloid metaplasia MONDO:0800306 epilepsy, progressive myoclonic, 2b skos:exactMatch OMIM:254780 myoclonic epilepsy of lafora semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym epilepsy, progressive myoclonic, type 2b semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800307 de la Chapelle dysplasia skos:exactMatch Orphanet:56304 Atelosteogenesis type II semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym de la chapelle dysplasia MONDO:0800308 orotic aciduria without megaloblastic anemia skos:exactMatch OMIM:258900 orotic aciduria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym orotic aciduria without megaloblastic anemia @@ -34860,8 +34866,8 @@ MONDO:0800388 cardiac glycoside intoxication skos:closeMatch NCIT:C34539 Digital MONDO:0800408 urogenital adysplasia skos:exactMatch OMIM:277000 mayer-rokitansky-kuster-hauser syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urogenital adysplasia MONDO:0800409 ventricular fibrillation during myocardial infarction, susceptibility to skos:exactMatch OMIM:603829 ventricular fibrillation, paroxysmal familial, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ventricular fibrillation during myocardial infarction, susceptibility to MONDO:0800410 UV-induced skin damage, susceptibility to skos:exactMatch OMIM:266300 skin/hair/eye pigmentation, variation in, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym uv-induced skin damage, susceptibility to -MONDO:0800412 yakut short stature syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome MONDO:0800412 yakut short stature syndrome skos:exactMatch Orphanet:2616 3M syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome +MONDO:0800412 yakut short stature syndrome skos:exactMatch OMIM:273750 three m syndrome 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym yakut short stature syndrome MONDO:0800413 antisocial behavior, susceptibility to skos:exactMatch OMIM:300615 brunner syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym antisocial behavior, susceptibility to MONDO:0800414 aplastic anemia, susceptibility to skos:exactMatch OMIM:609135 aplastic anemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aplastic anemia, susceptibility to MONDO:0800415 asthma, aspirin-induced, susceptibility to skos:exactMatch OMIM:208550 asthma, nasal polyps, and aspirin intolerance semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym asthma, aspirin-induced, susceptibility to @@ -34881,24 +34887,24 @@ MONDO:0800428 dengue shock syndrome, susceptibility to skos:exactMatch OMIM:6143 MONDO:0800429 dyslexia, susceptibility to, 4 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyslexia, susceptibility to, type 4 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800430 dyslexia, susceptibility to, 7 skos:exactMatch OMIM:127700 dyslexia, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dyslexia, susceptibility to, type 7 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800431 efavirenz central nervous system toxicity, susceptibility to skos:exactMatch OMIM:614546 efavirenz, poor metabolism of semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym efavirenz central nervous system toxicity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:617885 body mass index quantitative trait locus 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612362 body mass index quantitative trait locus 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:612460 body mass index quantitative trait locus 14 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:613444 chromosome 16p11.2 deletion syndrome, 220-kb semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:300306 body mass index quantitative trait locus 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607514 body mass index quantitative trait locus 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:602025 body mass index quantitative trait locus 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:603188 body mass index quantitative trait locus 8 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:615457 body mass index quantitative trait locus 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to -MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:608410 body mass index quantitative trait locus 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to +MONDO:0800432 obesity, susceptibility to skos:exactMatch OMIM:607447 body mass index quantitative trait locus 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym obesity, susceptibility to MONDO:0800433 ovarian cancer, familial, susceptibility to, 1 skos:exactMatch OMIM:604370 breast-ovarian cancer, familial, susceptibility to, 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 1 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800434 ovarian cancer, familial, susceptibility to, 2 skos:exactMatch OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 2 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800435 ovarian cancer, familial, susceptibility to, 3 skos:exactMatch OMIM:613399 breast-ovarian cancer, familial, susceptibility to, 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ovarian cancer, familial, susceptibility to, type 3 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch Orphanet:1394 Cerebrofaciothoracic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 -MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254940 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1850746 MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy-moebius-robin syndrome +MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:closeMatch Orphanet:1358 Carey-Fineman-Ziter syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254940 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616901 MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 skos:closeMatch Orphanet:459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym loucks-innes syndrome @@ -34913,36 +34919,50 @@ MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosette MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma skos:exactMatch NCIT:C45340 Primary Cutaneous Gamma-Delta T-Cell Lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous gamma-delta t-cell lymphoma MONDO:0851095 KINSSHIP syndrome skos:exactMatch Orphanet:632603 Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome MONDO:0851100 malignant olfactory nerve neoplasm skos:exactMatch NCIT:C4768 Malignant Olfactory Nerve Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label malignant olfactory nerve neoplasm +MONDO:0859083 systemic lupus erythematosus 17 skos:closeMatch Orphanet:536 Systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301080 +MONDO:0859136 Alzahrani-Kuwahara syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619268 +MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619306 +MONDO:0859144 Buratti-Harel syndrome skos:closeMatch Orphanet:528084 Non-specific syndromic intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619314 MONDO:0859150 BDV syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome MONDO:0859154 Bartsocas-Papas syndrome 2 skos:closeMatch Orphanet:1234 Bartsocas-Papas syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619339 +MONDO:0859157 visceral myopathy 2 skos:closeMatch Orphanet:2604 Familial visceral myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619350 +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:closeMatch Orphanet:254905 Isolated cytochrome C oxidase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619355 +MONDO:0859173 sick sinus syndrome 4 skos:closeMatch Orphanet:166282 Familial sick sinus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619464 +MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:closeMatch Orphanet:33110 Autosomal agammaglobulinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619824 +MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:closeMatch Orphanet:445038 3-methylglutaconic aciduria type 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619835 +MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619859 +MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphoribosylaminoimidazole carboxylase deficiency +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:98808 Autosomal dominant dopa-responsive dystonia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 +MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:closeMatch Orphanet:442835 Non-specific early-onset epileptic encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619922 +MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:closeMatch Orphanet:140468 Autosomal recessive distal hereditary motor neuropathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620011 MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch OMIM:620227 deafness, autosomal dominant 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal dominant type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0859366 hearing loss, autosomal dominant 85 skos:closeMatch OMIM:620227 deafness, autosomal dominant 85 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal dominant type 85 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0859374 hearing loss, autosomal recessive 120 skos:closeMatch OMIM:620238 deafness, autosomal recessive 120 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym deafness, autosomal recessive type 120 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:0859374 hearing loss, autosomal recessive 120 skos:closeMatch OMIM:620238 deafness, autosomal recessive 120 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness, autosomal recessive type 120 semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 +MONDO:8000006 WHIM syndrome 1 skos:exactMatch NCIT:C176819 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warts, hypogammaglobulinemia, infections, and myelokathexis syndrome MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536697 MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193670 MONDO:8000006 WHIM syndrome 1 skos:closeMatch Orphanet:51636 WHIM syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0472817 -MONDO:8000006 WHIM syndrome 1 skos:exactMatch NCIT:C176819 Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label warts, hypogammaglobulinemia, infections, and myelokathexis syndrome MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:212720 MONDO:8000008 Martsolf syndrome 1 skos:closeMatch Orphanet:1387 Cataract-intellectual disability-hypogonadism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0796037 MONDO:8000010 antiphospholipid syndrome skos:closeMatch OMIM:107320 antiphospholipid syndrome, familial semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lupus anticoagulant, familial -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nid a MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal pseudoobstruction due to neuronal disorder semapv:RegularExpressionReplacement semapv:RegularExpressionReplacement +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym argyrophil myenteric plexus, deficiency of MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855733 MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537394 -MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:2978 Chronic intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243180 +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch Orphanet:99811 Neuronal intestinal pseudoobstruction semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1855733 +MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive skos:closeMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nid a MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 skos:closeMatch Orphanet:456312 Infantile multisystem neurologic-endocrine-pancreatic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616263 -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label testicular regression syndrome -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:273250 MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xy gonadal agenesis syndrome MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 -MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression, embryonic MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression syndrome MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anorchia, familial +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym testicular regression, embryonic +MONDO:8000015 46,XY sex reversal 11 skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537770 MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10002641 MONDO:8000017 testicular regression syndrome skos:closeMatch Orphanet:983 Testicular regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0266427 MONDO:8000017 testicular regression syndrome skos:exactMatch OMIM:273250 46,xy sex reversal 11 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym testicular regression syndrome diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 919901b1..9e07bde7 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/e5be3694-cc11-49bf-b050-fb6bd53bcffe +# mapping_set_id: https://w3id.org/sssom/mappings/9590d76a-344c-424d-b26d-a9339fbd1214 subject_id subject_label predicate_id object_id mapping_justification NCIT:C12290 Mandible oboInOwl:hasDbXref UBERON:0001684 semapv:UnspecifiedMatching NCIT:C12298 Retroperitoneum oboInOwl:hasDbXref UBERON:0003693 semapv:UnspecifiedMatching diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 72632dd3..a2fec93f 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2023-03-29") +Annotation(owl:versionInfo "2023-04-05") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 6042ee1c..9d0e41fd 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2023-03-29") +Annotation(owl:versionInfo "2023-04-05") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index ac33dcc1..624e651a 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -5,27 +5,27 @@ ## Summary of mappings: * Number of mappings in `unmapped_icd_lex`: 1936 * Number of mappings in `unmapped_omim_lex`: 10 - * Number of mappings in `unmapped_ordo_lex`: 10 - * Number of mappings in `unmapped_doid_lex`: 422 - * Number of mappings in `unmapped_ncit_lex`: 173 + * Number of mappings in `unmapped_ordo_lex`: 11 + * Number of mappings in `unmapped_doid_lex`: 23 + * Number of mappings in `unmapped_ncit_lex`: 171 * Number of mappings in `unmapped_icd_mondo`: 37 - * Number of mappings in `unmapped_omim_mondo`: 2221 - * Number of mappings in `unmapped_ordo_mondo`: 1408 + * Number of mappings in `unmapped_omim_mondo`: 2371 + * Number of mappings in `unmapped_ordo_mondo`: 1407 * Number of mappings in `unmapped_doid_mondo`: 51 - * Number of mappings in `unmapped_ncit_mondo`: 2790 - * Number of mappings in `mondo_closematch_icd10cm`: 426 + * Number of mappings in `unmapped_ncit_mondo`: 2789 * Number of mappings in `mondo_broadmatch_icd10cm`: 77 - * Number of mappings in `mondo_exactmatch_icd10cm`: 1971 * Number of mappings in `mondo_narrowmatch_icd10cm`: 354 - * Number of mappings in `mondo_closematch_doid`: 898 - * Number of mappings in `mondo_broadmatch_doid`: 4 - * Number of mappings in `mondo_exactmatch_doid`: 471 - * Number of mappings in `mondo_narrowmatch_doid`: 6 - * Number of mappings in `mondo_closematch_ncit`: 250 + * Number of mappings in `mondo_exactmatch_icd10cm`: 1971 + * Number of mappings in `mondo_closematch_icd10cm`: 427 * Number of mappings in `mondo_broadmatch_ncit`: 29 - * Number of mappings in `mondo_exactmatch_ncit`: 2965 - * Number of mappings in `mondo_closematch_omim`: 9 - * Number of mappings in `mondo_exactmatch_omim`: 1679 - * Number of mappings in `mondo_closematch_orphanet`: 8 + * Number of mappings in `mondo_exactmatch_ncit`: 2962 + * Number of mappings in `mondo_closematch_ncit`: 252 * Number of mappings in `mondo_broadmatch_orphanet`: 1 * Number of mappings in `mondo_exactmatch_orphanet`: 1416 + * Number of mappings in `mondo_closematch_orphanet`: 9 + * Number of mappings in `mondo_broadmatch_doid`: 2 + * Number of mappings in `mondo_narrowmatch_doid`: 2 + * Number of mappings in `mondo_exactmatch_doid`: 72 + * Number of mappings in `mondo_closematch_doid`: 533 + * Number of mappings in `mondo_exactmatch_omim`: 1829 + * Number of mappings in `mondo_closematch_omim`: 15 diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv index 7f50800a..5910f10f 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ncit_mondo.tsv @@ -187,7 +187,6 @@ MONDO:0002432 malignant neoplasm of acoustic nerve NCIT:C4539 MONDO:equivalentTo MONDO:0002434 oculomotor nerve cancer NCIT:C6995 MONDO:equivalentTo Malignant Oculomotor Nerve Neoplasm semapv:UnspecifiedMatching MONDO:0002440 erythropoietin polycythemia NCIT:C35434 MONDO:equivalentTo Polycythaemia due to Excess Erythropoetin Production semapv:UnspecifiedMatching MONDO:0002441 Jervell and Lange-Nielsen syndrome NCIT:C84793 MONDO:equivalentTo Jervell and Lange Nielsen Syndrome semapv:UnspecifiedMatching -MONDO:0002444 melancholia NCIT:C34812 MONDO:equivalentTo Melancholic Depression semapv:UnspecifiedMatching MONDO:0002459 type IV hypersensitivity disease NCIT:C3115 MONDO:equivalentTo Type IV Hypersensitivity semapv:UnspecifiedMatching MONDO:0002464 lacrimal gland cancer NCIT:C3563 MONDO:equivalentTo Malignant Lacrimal Gland Neoplasm semapv:UnspecifiedMatching MONDO:0002486 lobular neoplasia NCIT:C27939 MONDO:equivalentTo Breast Lobular Neoplasia semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index fd1b2102..53991b81 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -400,7 +400,6 @@ MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-enc MONDO:0013144 hereditary antithrombin deficiency OMIM:613118 MONDO:equivalentTo antithrombin 3 deficiency semapv:UnspecifiedMatching MONDO:0013150 parkinsonism-dystonia, infantile OMIMPS:613135 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013176 Weill-Marchesani 4 syndrome, recessive OMIM:613195 MONDO:equivalentTo weill-marchesani syndrome 4 semapv:UnspecifiedMatching -MONDO:0013214 bile acid malabsorption, primary OMIM:613291 MONDO:equivalentTo bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO:0013225 congenital generalized lipodystrophy type 4 OMIM:613327 MONDO:equivalentTo lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching MONDO:0013229 hot water reflex epilepsy OMIMPS:613339 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0013234 hypokalemic periodic paralysis, type 2 OMIM:613345 MONDO:equivalentTo hypokalemic periodic paralysis, iia 2 semapv:UnspecifiedMatching @@ -1052,7 +1051,14 @@ MONDO:0800129 autoinflammatory disease, X-linked OMIM:301081 MONDO:equivalentTo MONDO:0800130 autoinflammatory syndrome with immunodeficiency OMIM:619375 MONDO:equivalentTo autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency OMIM:619858 MONDO:equivalentTo autoinflammatory-pancytopenia syndrome semapv:UnspecifiedMatching MONDO:0800188 malignant hyperthermia, susceptibility to OMIMPS:145600 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 OMIM:619355 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 22 semapv:UnspecifiedMatching +MONDO:0859182 Short stature, Dauber-Argente type OMIM:619489 MONDO:equivalentTo short stature, dauber-argente iia semapv:UnspecifiedMatching +MONDO:0859223 congenital disorder of glycosylation, type Iw, autosomal dominant OMIM:619714 MONDO:equivalentTo congenital disorder of glycosylation, iia iw, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859237 3-methylglutaconic aciduria, type VIIA OMIM:619835 MONDO:equivalentTo 3-methylglutaconic aciduria, iia 7a semapv:UnspecifiedMatching +MONDO:0859300 Neuronopathy, distal hereditary motor, type X OMIM:620080 MONDO:equivalentTo neuronopathy, distal hereditary motor, iia 10 semapv:UnspecifiedMatching MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J OMIM:620111 MONDO:equivalentTo charcot-marie-tooth disease, demyelinating, iia 1j semapv:UnspecifiedMatching +MONDO:0859317 Pseudohypoaldosteronism, type IB2, autosomal recessive OMIM:620125 MONDO:equivalentTo pseudohypoaldosteronism, iia ib2, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859318 Pseudohypoaldosteronism, type IB3, autosomal recessive OMIM:620126 MONDO:equivalentTo pseudohypoaldosteronism, iia ib3, autosomal recessive semapv:UnspecifiedMatching MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 OMIM:620135 MONDO:equivalentTo mitochondrial complex 1 deficiency, nuclear iia 39 semapv:UnspecifiedMatching MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 OMIM:620137 MONDO:equivalentTo mitochondrial complex 3 deficiency, nuclear iia 11 semapv:UnspecifiedMatching MONDO:0859356 congenital disorder of glycosylation, type IIy OMIM:620200 MONDO:equivalentTo congenital disorder of glycosylation, iia iiy semapv:UnspecifiedMatching @@ -1061,3 +1067,8 @@ MONDO:0859381 cardiomyopathy, dilated, 100 OMIM:620247 MONDO:equivalentTo cardio MONDO:0859383 ichthyosis hystrix OMIMPS:146590 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0859390 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features OMIMPS:300491 MONDO:equivalentTo semapv:UnspecifiedMatching MONDO:0859393 Atelis syndrome OMIMPS:620184 MONDO:equivalentTo semapv:UnspecifiedMatching +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 OMIM:620275 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 23 semapv:UnspecifiedMatching +MONDO:0859524 hearing loss, autosomal dominant 86 OMIM:620280 MONDO:equivalentTo deafness, autosomal dominant 86 semapv:UnspecifiedMatching +MONDO:0859525 hearing loss, autosomal dominant 87 OMIM:620281 MONDO:equivalentTo deafness, autosomal dominant 87 semapv:UnspecifiedMatching +MONDO:0859527 hearing loss, autosomal dominant 88 OMIM:620283 MONDO:equivalentTo deafness, autosomal dominant 88 semapv:UnspecifiedMatching +MONDO:0859528 hearing loss, autosomal dominant 89 OMIM:620284 MONDO:equivalentTo deafness, autosomal dominant 89 semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv index 76b43085..e64a49bc 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo_exact.tsv @@ -83,7 +83,6 @@ MONDO:0009029 cranial nerves, congenital paresis of OMIM:218100 MONDO:equivalent MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive OMIM:218400 MONDO:equivalentTo craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0009103 diaphragmatic hernia 2 OMIM:222400 MONDO:equivalentTo diaphragmatic hernia 2 semapv:UnspecifiedMatching MONDO:0009248 fructose and galactose intolerance OMIM:229500 MONDO:equivalentTo fructose and galactose intolerance semapv:UnspecifiedMatching -MONDO:0009288 glycogen storage disease Ib OMIM:232220 MONDO:equivalentTo glycogen storage disease ib semapv:UnspecifiedMatching MONDO:0009346 histidinuria due to a renal tubular defect OMIM:235830 MONDO:equivalentTo histidinuria due to a renal tubular defect semapv:UnspecifiedMatching MONDO:0009382 hyperbilirubinemia, shunt, primary OMIM:237800 MONDO:equivalentTo hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching MONDO:0009500 kuru, susceptibility to OMIM:245300 MONDO:equivalentTo kuru, susceptibility to semapv:UnspecifiedMatching @@ -407,6 +406,7 @@ MONDO:0013192 spondyloarthropathy, susceptibility to, 3 OMIM:613238 MONDO:equiva MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 OMIM:613239 MONDO:equivalentTo thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013196 Lynch syndrome 8 OMIM:613244 MONDO:equivalentTo lynch syndrome 8 semapv:UnspecifiedMatching MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to OMIM:613290 MONDO:equivalentTo hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching +MONDO:0013214 bile acid malabsorption, primary, 1 OMIM:613291 MONDO:equivalentTo bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 OMIM:613312 MONDO:equivalentTo hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO:0013230 epilepsy, hot water, 2 OMIM:613340 MONDO:equivalentTo epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO:0013257 leprosy, susceptibility to, 6 OMIM:613407 MONDO:equivalentTo leprosy, susceptibility to, 6 semapv:UnspecifiedMatching @@ -881,7 +881,6 @@ MONDO:0030749 epidermolysis bullosa, junctional 3B, severe OMIM:619786 MONDO:equ MONDO:0030756 Stuve-Wiedemann syndrome 2 OMIM:619751 MONDO:equivalentTo stuve-wiedemann syndrome 2 semapv:UnspecifiedMatching MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate OMIM:619816 MONDO:equivalentTo epidermolysis bullosa, junctional 5a, intermediate semapv:UnspecifiedMatching MONDO:0030770 congenital disorder of deglycosylation 2 OMIM:619775 MONDO:equivalentTo congenital disorder of deglycosylation 2 semapv:UnspecifiedMatching -MONDO:0030781 restrictive dermopathy 2 OMIM:619793 MONDO:equivalentTo restrictive dermopathy 2 semapv:UnspecifiedMatching MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly OMIM:619827 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly semapv:UnspecifiedMatching MONDO:0030787 spermatogenic failure 71 OMIM:619831 MONDO:equivalentTo spermatogenic failure 71 semapv:UnspecifiedMatching MONDO:0030797 retinitis pigmentosa 93 OMIM:619845 MONDO:equivalentTo retinitis pigmentosa 93 semapv:UnspecifiedMatching @@ -1117,21 +1116,142 @@ MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant OMIM MONDO:0800437 Carey-Fineman-Ziter syndrome 1 OMIM:254940 MONDO:equivalentTo carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching MONDO:0859046 rhabdomyosarcoma, embryonal, 2 OMIM:180295 MONDO:equivalentTo rhabdomyosarcoma, embryonal, 2 semapv:UnspecifiedMatching MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies OMIM:301066 MONDO:equivalentTo intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:UnspecifiedMatching +MONDO:0859081 chromosome Xq13 duplication syndrome OMIM:301069 MONDO:equivalentTo chromosome xq13 duplication syndrome semapv:UnspecifiedMatching +MONDO:0859083 systemic lupus erythematosus 17 OMIM:301080 MONDO:equivalentTo systemic lupus erythematosus 17 semapv:UnspecifiedMatching +MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked OMIM:301094 MONDO:equivalentTo neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked semapv:UnspecifiedMatching MONDO:0859086 intellectual developmental disorder, X-linked 110 OMIM:301095 MONDO:equivalentTo intellectual developmental disorder, X-linked 110 semapv:UnspecifiedMatching +MONDO:0859136 Alzahrani-Kuwahara syndrome OMIM:619268 MONDO:equivalentTo alzahrani-kuwahara syndrome semapv:UnspecifiedMatching +MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM:619286 MONDO:equivalentTo neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0859139 blepharophimosis-impaired intellectual development syndrome OMIM:619293 MONDO:equivalentTo blepharophimosis-impaired intellectual development syndrome semapv:UnspecifiedMatching +MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM:619306 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0859142 Hiatt-Neu-Cooper neurodevelopmental syndrome OMIM:619311 MONDO:equivalentTo hiatt-neu-cooper neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859143 Radio-Tartaglia syndrome OMIM:619312 MONDO:equivalentTo radio-tartaglia syndrome semapv:UnspecifiedMatching +MONDO:0859144 Buratti-Harel syndrome OMIM:619314 MONDO:equivalentTo buratti-harel syndrome semapv:UnspecifiedMatching +MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM:619321 MONDO:equivalentTo growth restriction, hypoplastic kidneys, alopecia, and distinctive facies semapv:UnspecifiedMatching MONDO:0859147 Marbach-Rustad progeroid syndrome OMIM:619322 MONDO:equivalentTo marbach-rustad progeroid syndrome semapv:UnspecifiedMatching +MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth OMIM:619323 MONDO:equivalentTo neurodevelopmental disorder with seizures and gingival overgrowth semapv:UnspecifiedMatching +MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM:619333 MONDO:equivalentTo neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:UnspecifiedMatching MONDO:0859154 Bartsocas-Papas syndrome 2 OMIM:619339 MONDO:equivalentTo bartsocas-papas syndrome 2 semapv:UnspecifiedMatching +MONDO:0859155 chromosome 1p36 deletion syndrome, proximal OMIM:619343 MONDO:equivalentTo chromosome 1p36 deletion syndrome, proximal semapv:UnspecifiedMatching +MONDO:0859157 visceral myopathy 2 OMIM:619350 MONDO:equivalentTo visceral myopathy 2 semapv:UnspecifiedMatching +MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset OMIM:619352 MONDO:equivalentTo ataxia, intention tremor, and hypotonia syndrome, childhood-onset semapv:UnspecifiedMatching +MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy OMIM:619354 MONDO:equivalentTo deafness, cataract, impaired intellectual development, and polyneuropathy semapv:UnspecifiedMatching +MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms OMIM:619373 MONDO:equivalentTo neurodevelopmental disorder with infantile epileptic spasms semapv:UnspecifiedMatching +MONDO:0859163 Faundes-Banka syndrome OMIM:619376 MONDO:equivalentTo faundes-banka syndrome semapv:UnspecifiedMatching +MONDO:0859164 osteootohepatoenteric syndrome OMIM:619377 MONDO:equivalentTo osteootohepatoenteric syndrome semapv:UnspecifiedMatching +MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities OMIM:619383 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy OMIM:619424 MONDO:equivalentTo myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy semapv:UnspecifiedMatching +MONDO:0859169 White-Kernohan syndrome OMIM:619426 MONDO:equivalentTo white-kernohan syndrome semapv:UnspecifiedMatching +MONDO:0859171 Luo-Schoch-Yamamoto syndrome OMIM:619460 MONDO:equivalentTo luo-schoch-yamamoto syndrome semapv:UnspecifiedMatching +MONDO:0859173 sick sinus syndrome 4 OMIM:619464 MONDO:equivalentTo sick sinus syndrome 4 semapv:UnspecifiedMatching +MONDO:0859174 Usmani-Riazuddin syndrome, autosomal dominant OMIM:619467 MONDO:equivalentTo usmani-riazuddin syndrome, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859175 nephronophthisis-like nephropathy 2 OMIM:619468 MONDO:equivalentTo nephronophthisis-like nephropathy 2 semapv:UnspecifiedMatching +MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities OMIM:619470 MONDO:equivalentTo neurodevelopmental disorder with motor and speech delay and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859177 VISS syndrome OMIM:619472 MONDO:equivalentTo viss syndrome semapv:UnspecifiedMatching +MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 MONDO:equivalentTo developmental delay, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum OMIM:619480 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:UnspecifiedMatching +MONDO:0859180 bile acid malabsorption, primary, 2 OMIM:619481 MONDO:equivalentTo bile acid malabsorption, primary, 2 semapv:UnspecifiedMatching +MONDO:0859181 DEGCAGS syndrome OMIM:619488 MONDO:equivalentTo degcags syndrome semapv:UnspecifiedMatching +MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to OMIM:619491 MONDO:equivalentTo parkinson disease 24, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies OMIM:619503 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859186 Chopra-Amiel-Gordon syndrome OMIM:619504 MONDO:equivalentTo chopra-amiel-gordon syndrome semapv:UnspecifiedMatching +MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities OMIM:619512 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities OMIM:619517 MONDO:equivalentTo neurodevelopmental disorder with seizures and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM:619518 MONDO:equivalentTo muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome semapv:UnspecifiedMatching +MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities OMIM:619522 MONDO:equivalentTo neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities semapv:UnspecifiedMatching +MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome OMIM:619534 MONDO:equivalentTo biliary, renal, neurologic, and skeletal syndrome semapv:UnspecifiedMatching +MONDO:0859193 neuroocular syndrome OMIM:619539 MONDO:equivalentTo neuroocular syndrome semapv:UnspecifiedMatching +MONDO:0859194 Boudin-Mortier syndrome OMIM:619543 MONDO:equivalentTo boudin-mortier syndrome semapv:UnspecifiedMatching +MONDO:0859196 Usmani-Riazuddin syndrome, autosomal recessive OMIM:619548 MONDO:equivalentTo usmani-riazuddin syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies OMIM:619557 MONDO:equivalentTo short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies semapv:UnspecifiedMatching +MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities OMIM:619575 MONDO:equivalentTo developmental delay with or without intellectual impairment or behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM:619576 MONDO:equivalentTo cerebellar ataxia, brain abnormalities, and cardiac conduction defects semapv:UnspecifiedMatching +MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures OMIM:619580 MONDO:equivalentTo neurodevelopmental disorder with impaired language and ataxia and with or without seizures semapv:UnspecifiedMatching +MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities OMIM:619595 MONDO:equivalentTo developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities semapv:UnspecifiedMatching +MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM:619602 MONDO:equivalentTo fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity OMIM:619616 MONDO:equivalentTo neurodevelopmental disorder with hearing loss and spasticity semapv:UnspecifiedMatching +MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay OMIM:619639 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and gross motor and speech delay semapv:UnspecifiedMatching +MONDO:0859208 Hengel-Maroofian-Schols syndrome OMIM:619641 MONDO:equivalentTo hengel-maroofian-schols syndrome semapv:UnspecifiedMatching +MONDO:0859209 Zaki syndrome OMIM:619648 MONDO:equivalentTo zaki syndrome semapv:UnspecifiedMatching +MONDO:0859210 chromosome 16q12 duplication syndrome OMIM:619649 MONDO:equivalentTo chromosome 16q12 duplication syndrome semapv:UnspecifiedMatching +MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia OMIM:619651 MONDO:equivalentTo neurodevelopmental disorder with hyperkinetic movements and dyskinesia semapv:UnspecifiedMatching +MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus OMIM:619653 MONDO:equivalentTo neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus semapv:UnspecifiedMatching +MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome OMIM:619680 MONDO:equivalentTo marbach-schaaf neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia OMIM:619681 MONDO:equivalentTo dystonia, early-onset, and/or spastic paraplegia semapv:UnspecifiedMatching +MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM:619685 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis semapv:UnspecifiedMatching +MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome OMIM:619690 MONDO:equivalentTo brunet-wagner neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859218 developmental delay with variable neurologic and brain abnormalities OMIM:619694 MONDO:equivalentTo developmental delay with variable neurologic and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859219 Rauch-Steindl syndrome OMIM:619695 MONDO:equivalentTo rauch-steindl syndrome semapv:UnspecifiedMatching +MONDO:0859220 Ferguson-Bonni neurodevelopmental syndrome OMIM:619699 MONDO:equivalentTo ferguson-bonni neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome OMIM:619701 MONDO:equivalentTo yoon-bellen neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859224 intellectual disability and myopathy syndrome OMIM:619719 MONDO:equivalentTo intellectual disability and myopathy syndrome semapv:UnspecifiedMatching +MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities OMIM:619725 MONDO:equivalentTo neurodevelopmental disorder with or without variable movement or behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859228 combined oxidative phosphorylation deficiency 55 OMIM:619743 MONDO:equivalentTo combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching +MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619761 MONDO:equivalentTo cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism semapv:UnspecifiedMatching +MONDO:0859230 Kury-Isidor syndrome OMIM:619762 MONDO:equivalentTo kury-isidor syndrome semapv:UnspecifiedMatching +MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM:619797 MONDO:equivalentTo neurodevelopmental disorder with central hypotonia and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859234 agammaglobulinemia 8b, autosomal recessive OMIM:619824 MONDO:equivalentTo agammaglobulinemia 8b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities OMIM:619833 MONDO:equivalentTo neurodevelopmental disorder with neuromuscular and skeletal abnormalities semapv:UnspecifiedMatching +MONDO:0859239 Chilton-Okur-Chung neurodevelopmental syndrome OMIM:619841 MONDO:equivalentTo chilton-okur-chung neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy OMIM:619844 MONDO:equivalentTo intellectual developmental disorder with or without peripheral neuropathy semapv:UnspecifiedMatching +MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly OMIM:619847 MONDO:equivalentTo neurodegeneration, childhood-onset, with progressive microcephaly semapv:UnspecifiedMatching MONDO:0859242 leukodystrophy, hypomyelinating, 24 OMIM:619851 MONDO:equivalentTo leukodystrophy, hypomyelinating, 24 semapv:UnspecifiedMatching +MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM:619854 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 OMIM:619862 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 32 semapv:UnspecifiedMatching +MONDO:0859247 neurocardiofaciodigital syndrome OMIM:619869 MONDO:equivalentTo neurocardiofaciodigital syndrome semapv:UnspecifiedMatching +MONDO:0859249 parenti-mignot neurodevelopmental syndrome OMIM:619873 MONDO:equivalentTo parenti-mignot neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM:619876 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures semapv:UnspecifiedMatching +MONDO:0859251 Dentici-Novelli neurodevelopmental syndrome OMIM:619877 MONDO:equivalentTo dentici-novelli neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies OMIM:619880 MONDO:equivalentTo neurodevelopmental disorder with poor growth and skeletal anomalies semapv:UnspecifiedMatching +MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM:619884 MONDO:equivalentTo osteoporosis, childhood- or juvenile-onset, with developmental delay semapv:UnspecifiedMatching +MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive OMIM:619903 MONDO:equivalentTo peripheral motor neuropathy, childhood-onset, biotin-responsive semapv:UnspecifiedMatching +MONDO:0859256 neurodevelopmental disorder with language delay and seizures OMIM:619908 MONDO:equivalentTo neurodevelopmental disorder with language delay and seizures semapv:UnspecifiedMatching +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism OMIM:619911 MONDO:equivalentTo intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism semapv:UnspecifiedMatching +MONDO:0859258 neurodevelopmental disorder with dystonia and seizures OMIM:619922 MONDO:equivalentTo neurodevelopmental disorder with dystonia and seizures semapv:UnspecifiedMatching +MONDO:0859260 Dworschak-Punetha neurodevelopmental syndrome OMIM:619955 MONDO:equivalentTo dworschak-punetha neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0859261 attention deficit-hyperactivity disorder 8 OMIM:619957 MONDO:equivalentTo attention deficit-hyperactivity disorder 8 semapv:UnspecifiedMatching +MONDO:0859262 ACCES syndrome OMIM:619959 MONDO:equivalentTo acces syndrome semapv:UnspecifiedMatching +MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM:619964 MONDO:equivalentTo developmental delay, impaired speech, and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching +MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy OMIM:619971 MONDO:equivalentTo neurodevelopmental disorder with epilepsy and brain atrophy semapv:UnspecifiedMatching +MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy OMIM:619972 MONDO:equivalentTo neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy semapv:UnspecifiedMatching +MONDO:0859267 tumor predisposition syndrome 2 OMIM:619975 MONDO:equivalentTo tumor predisposition syndrome 2 semapv:UnspecifiedMatching +MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies OMIM:619989 MONDO:equivalentTo neurodevelopmental disorder with speech delay and variable ocular anomalies semapv:UnspecifiedMatching +MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies OMIM:619995 MONDO:equivalentTo neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies semapv:UnspecifiedMatching +MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities OMIM:620001 MONDO:equivalentTo neurodevelopmental disorder with spasticity, seizures, and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome OMIM:620005 MONDO:equivalentTo primordial dwarfism-immunodeficiency-lipodystrophy syndrome semapv:UnspecifiedMatching +MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects OMIM:620007 MONDO:equivalentTo intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects semapv:UnspecifiedMatching +MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM:620009 MONDO:equivalentTo keratoderma-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 OMIM:620011 MONDO:equivalentTo spinal muscular atrophy, distal, autosomal recessive, 6 semapv:UnspecifiedMatching +MONDO:0859280 developmental delay, hypotonia, and impaired language OMIM:620012 MONDO:equivalentTo developmental delay, hypotonia, and impaired language semapv:UnspecifiedMatching +MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures OMIM:620023 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures semapv:UnspecifiedMatching +MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay OMIM:620027 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, short stature, and speech delay semapv:UnspecifiedMatching +MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM:620029 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:UnspecifiedMatching +MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language OMIM:620038 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, hypotonia, and absent language semapv:UnspecifiedMatching +MONDO:0859288 bone marrow failure and diabetes mellitus syndrome OMIM:620044 MONDO:equivalentTo bone marrow failure and diabetes mellitus syndrome semapv:UnspecifiedMatching +MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders OMIM:620065 MONDO:equivalentTo developmental delay, behavioral abnormalities, and neuropsychiatric disorders semapv:UnspecifiedMatching +MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM:620066 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment semapv:UnspecifiedMatching +MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM:620070 MONDO:equivalentTo neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:UnspecifiedMatching +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities OMIM:620073 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities semapv:UnspecifiedMatching +MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly OMIM:620075 MONDO:equivalentTo neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly semapv:UnspecifiedMatching +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects OMIM:620083 MONDO:equivalentTo neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects semapv:UnspecifiedMatching +MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction OMIM:620089 MONDO:equivalentTo neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction semapv:UnspecifiedMatching +MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies OMIM:620098 MONDO:equivalentTo developmental delay with variable intellectual disability and dysmorphic facies semapv:UnspecifiedMatching MONDO:0859308 retinitis pigmentosa 95 OMIM:620102 MONDO:equivalentTo retinitis pigmentosa 95 semapv:UnspecifiedMatching MONDO:0859309 spastic paraplegia 88, autosomal dominant OMIM:620106 MONDO:equivalentTo spastic paraplegia 88, autosomal dominant semapv:UnspecifiedMatching +MONDO:0859310 orofaciodigital syndrome 19 OMIM:620107 MONDO:equivalentTo orofaciodigital syndrome 19 semapv:UnspecifiedMatching +MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM:620113 MONDO:equivalentTo neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities semapv:UnspecifiedMatching +MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures OMIM:620114 MONDO:equivalentTo neurodevelopmental disorder with speech impairment and with or without seizures semapv:UnspecifiedMatching MONDO:0859314 developmental and epileptic encephalopathy 108 OMIM:620115 MONDO:equivalentTo developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching +MONDO:0859316 iron overload, susceptibility to OMIM:620121 MONDO:equivalentTo iron overload, susceptibility to semapv:UnspecifiedMatching MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 OMIM:620133 MONDO:equivalentTo dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0859323 combined oxidative phosphorylation deficiency 56 OMIM:620139 MONDO:equivalentTo combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities OMIM:620141 MONDO:equivalentTo developmental delay, language impairment, and ocular abnormalities semapv:UnspecifiedMatching MONDO:0859325 developmental and epileptic encephalopathy 109 OMIM:620145 MONDO:equivalentTo developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching MONDO:0859327 developmental and epileptic encephalopathy 110 OMIM:620149 MONDO:equivalentTo developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy OMIM:620152 MONDO:equivalentTo hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:UnspecifiedMatching MONDO:0859329 mosaic variegated aneuploidy syndrome 4 OMIM:620153 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching +MONDO:0859330 oocyte maturation defect 13 OMIM:620154 MONDO:equivalentTo oocyte maturation defect 13 semapv:UnspecifiedMatching +MONDO:0859331 Rabin-Pappas syndrome OMIM:620155 MONDO:equivalentTo rabin-pappas syndrome semapv:UnspecifiedMatching MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 OMIM:620156 MONDO:equivalentTo cortical dysplasia, complex, with other brain malformations 11 semapv:UnspecifiedMatching MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 OMIM:620157 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 70 semapv:UnspecifiedMatching MONDO:0859334 spinocerebellar ataxia 50 OMIM:620158 MONDO:equivalentTo spinocerebellar ataxia 50 semapv:UnspecifiedMatching @@ -1141,21 +1261,40 @@ MONDO:0859339 tooth agenesis, selective, 10 OMIM:620173 MONDO:equivalentTo tooth MONDO:0859340 spinocerebellar ataxia 27B, late-onset OMIM:620174 MONDO:equivalentTo spinocerebellar ataxia 27b, late-onset semapv:UnspecifiedMatching MONDO:0859341 hypotrichosis 15 OMIM:620177 MONDO:equivalentTo hypotrichosis 15 semapv:UnspecifiedMatching MONDO:0859342 microcephaly 30, primary, autosomal recessive OMIM:620183 MONDO:equivalentTo microcephaly 30, primary, autosomal recessive semapv:UnspecifiedMatching +MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome OMIM:620186 MONDO:equivalentTo branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome semapv:UnspecifiedMatching MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM:620189 MONDO:equivalentTo mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching +MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM:620191 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities semapv:UnspecifiedMatching +MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM:620194 MONDO:equivalentTo neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies semapv:UnspecifiedMatching +MONDO:0859351 obesity and hypopigmentation OMIM:620195 MONDO:equivalentTo obesity and hypopigmentation semapv:UnspecifiedMatching MONDO:0859352 spermatogenic failure 79 OMIM:620196 MONDO:equivalentTo spermatogenic failure 79 semapv:UnspecifiedMatching MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus OMIM:620197 MONDO:equivalentTo ciliary dyskinesia, primary, 49, without situs inversus semapv:UnspecifiedMatching MONDO:0859354 thyroid hormone metabolism, abnormal, 3 OMIM:620198 MONDO:equivalentTo thyroid hormone metabolism, abnormal, 3 semapv:UnspecifiedMatching MONDO:0859358 cardiomyopathy, dilated, 2H OMIM:620203 MONDO:equivalentTo cardiomyopathy, dilated, 2h semapv:UnspecifiedMatching MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 OMIM:620208 MONDO:equivalentTo spinocerebellar ataxia, autosomal recessive 33 semapv:UnspecifiedMatching +MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM:620210 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia semapv:UnspecifiedMatching MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 OMIM:620211 MONDO:equivalentTo hyperinsulinemic hypoglycemia, familial, 8 semapv:UnspecifiedMatching MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia OMIM:620221 MONDO:equivalentTo spastic paraplegia 79a, autosomal dominant, with ataxia semapv:UnspecifiedMatching MONDO:0859364 spermatogenic failure 80 OMIM:620222 MONDO:equivalentTo spermatogenic failure 80 semapv:UnspecifiedMatching +MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures OMIM:620224 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures semapv:UnspecifiedMatching MONDO:0859367 retinitis pigmentosa 96 OMIM:620228 MONDO:equivalentTo retinitis pigmentosa 96 semapv:UnspecifiedMatching +MONDO:0859368 short QT syndrome 7 OMIM:620231 MONDO:equivalentTo short qt syndrome 7 semapv:UnspecifiedMatching +MONDO:0859369 joint contractures, osteochondromas, and B-cell lymphoma OMIM:620232 MONDO:equivalentTo joint contractures, osteochondromas, and b-cell lymphoma semapv:UnspecifiedMatching +MONDO:0859371 rhabdomyolysis, susceptibility to, 1 OMIM:620235 MONDO:equivalentTo rhabdomyolysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies OMIM:620236 MONDO:equivalentTo cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:UnspecifiedMatching MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 OMIM:620237 MONDO:equivalentTo intellectual developmental disorder, autosomal recessive 78 semapv:UnspecifiedMatching +MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities OMIM:620240 MONDO:equivalentTo developmental delay with hypotonia, myopathy, and brain abnormalities semapv:UnspecifiedMatching MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to OMIM:620241 MONDO:equivalentTo hydrocephalus, congenital, 5, susceptibility to semapv:UnspecifiedMatching +MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM:620242 MONDO:equivalentTo neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:UnspecifiedMatching MONDO:0859378 leukodystrophy, hypomyelinating, 25 OMIM:620243 MONDO:equivalentTo leukodystrophy, hypomyelinating, 25 semapv:UnspecifiedMatching MONDO:0859379 lymphatic malformation 13 OMIM:620244 MONDO:equivalentTo lymphatic malformation 13 semapv:UnspecifiedMatching MONDO:0859380 episodic kinesigenic dyskinesia 3 OMIM:620245 MONDO:equivalentTo episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO:0859382 cataract 50 with or without glaucoma OMIM:620253 MONDO:equivalentTo cataract 50 with or without glaucoma semapv:UnspecifiedMatching +MONDO:0859477 spermatogenic failure, X-linked, 5 OMIM:301099 MONDO:equivalentTo spermatogenic failure, x-linked, 5 semapv:UnspecifiedMatching +MONDO:0859478 spermatogenic failure, X-linked, 6 OMIM:301101 MONDO:equivalentTo spermatogenic failure, x-linked, 6 semapv:UnspecifiedMatching +MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM:620250 MONDO:equivalentTo neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum semapv:UnspecifiedMatching +MONDO:0859521 oocyte maturation defect 14 OMIM:620276 MONDO:equivalentTo oocyte maturation defect 14 semapv:UnspecifiedMatching +MONDO:0859522 spermatogenic failure 81 OMIM:620277 MONDO:equivalentTo spermatogenic failure 81 semapv:UnspecifiedMatching +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile OMIM:620285 MONDO:equivalentTo amyotrophic lateral sclerosis 27, juvenile semapv:UnspecifiedMatching +MONDO:0859530 myopathy, sarcoplasmic body OMIM:620286 MONDO:equivalentTo myopathy, sarcoplasmic body semapv:UnspecifiedMatching +MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures OMIM:620292 MONDO:equivalentTo neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching MONDO:8000013 portal hypertension, noncirrhotic, 1 OMIM:617068 MONDO:equivalentTo portal hypertension, noncirrhotic, 1 semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv index 6fecd21f..426792ba 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo_exact.tsv @@ -32,7 +32,6 @@ MONDO:0015310 syndromic optic nerve hypoplasia Orphanet:137905 MONDO:equivalentT MONDO:0015323 teratogenic Pierre Robin syndrome Orphanet:138059 MONDO:equivalentTo Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching MONDO:0015327 developmental anomaly of metabolic origin Orphanet:139009 MONDO:equivalentTo Developmental anomaly of metabolic origin semapv:UnspecifiedMatching MONDO:0015330 overgrowth/obesity syndrome Orphanet:139024 MONDO:equivalentTo Overgrowth/obesity syndrome semapv:UnspecifiedMatching -MONDO:0015333 progeroid syndrome Orphanet:139033 MONDO:equivalentTo Progeroid syndrome semapv:UnspecifiedMatching MONDO:0015334 branchial arch or oral-acral syndrome Orphanet:139036 MONDO:equivalentTo Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO:0015338 syndromic craniosynostosis Orphanet:139393 MONDO:equivalentTo Syndromic craniosynostosis semapv:UnspecifiedMatching MONDO:0015341 congenital panfollicular nevus Orphanet:139414 MONDO:equivalentTo Congenital panfollicular nevus semapv:UnspecifiedMatching diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv index c56bf28a..7368cff2 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv @@ -1,5 +1,3 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0004979 asthma skos:broadMatch DOID:0080821 exercise-induced bronchoconstriction semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym exercise-induced asthma LEXMATCH -MONDO:0015134 constitutional neutropenia skos:broadMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym kostmann syndrome LEXMATCH -MONDO:0015134 constitutional neutropenia skos:broadMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym oio:hasExactSynonym kostmann disorder LEXMATCH -MONDO:0016643 frontonasal dysplasia skos:broadMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH +MONDO:0008048 autosomal dominant centronuclear myopathy skos:broadMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label centronuclear myopathy type 1 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index e29fec8a..ae866b76 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -1,173 +1,88 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000023 infantile liver failure skos:closeMatch DOID:0080716 infantile liver failure syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:615438 LEXMATCH MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B skos:closeMatch DOID:0112375 muscular dystrophy-dystroglycanopathy type B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:613155 LEXMATCH -MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma skos:closeMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9702/3 LEXMATCH +MONDO:0002413 glycogen storage disease I skos:closeMatch DOID:0081329 glycogen storage disease I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:e74.01 LEXMATCH +MONDO:0002413 glycogen storage disease I skos:closeMatch DOID:0081329 glycogen storage disease I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005953 LEXMATCH MONDO:0002601 teratoma skos:closeMatch DOID:0080602 benign teratoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9080/1 LEXMATCH MONDO:0003424 oncocytic adenoma skos:closeMatch DOID:0081306 spindle cell oncocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8290/0 LEXMATCH MONDO:0004784 allergic asthma skos:closeMatch DOID:0080811 extrinsic asthma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym atopic asthma LEXMATCH -MONDO:0004976 amyotrophic lateral sclerosis skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000690 LEXMATCH MONDO:0005072 neuroblastoma skos:closeMatch DOID:0081315 central nervous system tumor with BCOR internal tandem duplication semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9500/3 LEXMATCH MONDO:0005072 neuroblastoma skos:closeMatch DOID:0080906 CNS neuroblastoma with FOXR2 activation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9500/3 LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:closeMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9873/3 LEXMATCH MONDO:0005505 dysembryoplastic neuroepithelial tumor skos:closeMatch DOID:0081305 polymorphous low grade neuroepithelial tumour of the young semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9413/0 LEXMATCH -MONDO:0006372 pituicytoma skos:closeMatch DOID:0081280 pituicytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9432/1 LEXMATCH -MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH MONDO:0006444 teratoma with malignant transformation skos:closeMatch DOID:0081246 teratoma with somatic-type malignancy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9084/3 LEXMATCH -MONDO:0006515 acute pancreatitis skos:closeMatch DOID:0080998 acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d019283 LEXMATCH -MONDO:0006624 overactive bladder skos:closeMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d053201 LEXMATCH -MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types LEXMATCH MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:102200 LEXMATCH -MONDO:0007060 spermatogenic failure 6 skos:closeMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym keratoderma-hypotrichosis-leukonychia totalis syndrome LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:104100 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105500 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym als-pdc LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:closeMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH +MONDO:0007052 growth hormone secreting pituitary adenoma 1 skos:closeMatch DOID:0112009 pituitary adenoma 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pituitary adenoma type 1, multiple types LEXMATCH MONDO:0007111 aneurysm, intracranial berry type 1 skos:closeMatch DOID:0080964 intracranial berry aneurysm 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105800 LEXMATCH MONDO:0007145 aplasia cutis congenita skos:closeMatch DOID:0080661 nonsyndromic aplasia cutis congenita semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:107600 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108200 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arthrogryposis and sensorineural deafness LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial hand abnormality and sensori-neural deafness LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:closeMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535386 LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:closeMatch DOID:0080676 Stickler syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:108300 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:114300 LEXMATCH -MONDO:0007252 Gordon syndrome skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537288 LEXMATCH MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122700 LEXMATCH -MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin resistance LEXMATCH MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080666 warfarin sensitivity semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin sensitivity LEXMATCH +MONDO:0007390 coumarin resistance skos:closeMatch DOID:0080665 warfarin resistance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warfarin resistance LEXMATCH MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080801 autosomal dominant craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:123000 LEXMATCH -MONDO:0007435 dentatorubral-pallidoluysian atrophy skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH MONDO:0007451 diabetes insipidus, nephrogenic, autosomal skos:closeMatch DOID:0081061 nephrogenic diabetes insipidus type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:125800 LEXMATCH -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0007458 digitotalar dysmorphism; ulnar drift, hereditary skos:closeMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126050 LEXMATCH MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome skos:closeMatch DOID:0080721 calvarial doughnut lesions with bone fragility semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:126550 LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:closeMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:127000 LEXMATCH MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label basan syndrome LEXMATCH MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:129200 LEXMATCH MONDO:0007507 absence of fingerprints-congenital milia syndrome skos:closeMatch DOID:0080725 BASAN syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537659 LEXMATCH MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type skos:closeMatch DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130060 LEXMATCH MONDO:0007538 amelogenesis imperfecta, type 3A skos:closeMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c562880 LEXMATCH MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate skos:closeMatch DOID:0080511 epidermolysis bullosa simplex generalized type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:131900 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:136760 LEXMATCH -MONDO:0007636 frontorhiny skos:closeMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:closeMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144650 LEXMATCH MONDO:0007783 malignant hyperthermia, susceptibility to, 1 skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:145600 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label keratosis palmoplantaris striata type 1 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536162 LEXMATCH MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse skos:closeMatch DOID:0081108 keratosis palmoplantaris striata 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148700 LEXMATCH -MONDO:0007922 lymphedema-distichiasis syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures skos:closeMatch DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:158600 LEXMATCH MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:160150 LEXMATCH MONDO:0008106 nystagmus 2, congenital, autosomal dominant skos:closeMatch DOID:0111792 congenital nystagmus 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164100 LEXMATCH -MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 LEXMATCH MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 2 LEXMATCH MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567664 LEXMATCH +MONDO:0008123 autosomal dominant omodysplasia skos:closeMatch DOID:0080845 omodysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164745 LEXMATCH MONDO:0008302 centra precocious puberty 1 skos:closeMatch DOID:0112310 central precocious puberty 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176400 LEXMATCH MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant skos:closeMatch DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:176860 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:closeMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178110 LEXMATCH -MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:closeMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184100 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia algerian type LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184253 LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:closeMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535794 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia sutcliffe type LEXMATCH -MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia corner fracture type LEXMATCH MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535793 LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:closeMatch DOID:0081317 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:186500 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:closeMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193700 LEXMATCH -MONDO:0008676 white sponge nevus 1 skos:closeMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:193900 LEXMATCH -MONDO:0008676 white sponge nevus 1 skos:closeMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 1 LEXMATCH -MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema LEXMATCH +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia corner fracture type LEXMATCH +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaphyseal dysplasia sutcliffe type LEXMATCH +MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type skos:closeMatch DOID:0112297 spondylometaphyseal dysplasia corner fracture type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:184255 LEXMATCH MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:194380 LEXMATCH +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dehydrated hereditary stomatocytosis type 1 with or without pseudohyperkalemia and/or perinatal edema LEXMATCH MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema skos:closeMatch DOID:0111576 dehydrated hereditary stomatocytosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudohyperkalemia edinburgh LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:203740 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:closeMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym oxoglutaric aciduria LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:closeMatch DOID:0081289 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym antley bixler syndrome LEXMATCH -MONDO:0008926 COFS syndrome skos:closeMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:214150 LEXMATCH -MONDO:0008966 Aagenaes syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:closeMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:218400 LEXMATCH -MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537004 LEXMATCH MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:220111 LEXMATCH +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type skos:closeMatch DOID:0111180 French Canadian Leigh disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537004 LEXMATCH MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type skos:closeMatch DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225320 LEXMATCH MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type skos:closeMatch DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225410 LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:closeMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231005 LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:closeMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:231900 LEXMATCH -MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:closeMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565535 LEXMATCH -MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:closeMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233600 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label combined cellular and humoral immune defects with granulomas LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233650 LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:closeMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567115 LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial pulmonary capillary hemangiomatosis LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:closeMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:234810 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nag synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetyl glutamate synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label n-acetylglutamate synthase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym n-acetylglutamate synthetase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nags deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:closeMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:237310 LEXMATCH +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA skos:closeMatch DOID:0081329 glycogen storage disease I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym von gierke disorder LEXMATCH +MONDO:0009288 glycogen storage disease Ib skos:closeMatch DOID:0081331 glycogen storage disease Ic semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232240 LEXMATCH +MONDO:0009288 glycogen storage disease Ib skos:closeMatch DOID:0081330 glycogen storage disease Ib semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:232220 LEXMATCH MONDO:0009413 immunodeficiency, common variable, 2 skos:closeMatch DOID:0081145 common variable immunodeficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240500 LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypoinsulinemic hypoglycemia with hemihypertrophy LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:closeMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:240900 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 LEXMATCH -MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565476 LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:241600 LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565476 LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym b2m deficiency LEXMATCH MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym beta-2-microglobulin deficiency LEXMATCH +MONDO:0009434 hypoproteinemia, hypercatabolic skos:closeMatch DOID:0111981 immunodeficiency 43 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 43 LEXMATCH MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency skos:closeMatch DOID:0080594 hyper IgE recurrent infection syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243700 LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:closeMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:244460 LEXMATCH MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy skos:closeMatch DOID:0081128 mandibuloacral dysplasia type A lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:248370 LEXMATCH MONDO:0009580 intellectual disability, autosomal recessive 1 skos:closeMatch DOID:0081177 autosomal recessive intellectual developmental disorder 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:249500 LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535798 LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250220 LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedaghatian chondrodysplasia LEXMATCH MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type skos:closeMatch DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia sedaghatian type LEXMATCH -MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis iii gamma LEXMATCH MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252605 LEXMATCH MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565367 LEXMATCH -MONDO:0009693 plasma cell myeloma skos:closeMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym al amyloidosis LEXMATCH +MONDO:0009652 GNPTG-mucolipidosis skos:closeMatch DOID:0080678 mucolipidosis III gamma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis iii gamma LEXMATCH MONDO:0009698 Unverricht-Lundborg syndrome skos:closeMatch DOID:0111452 progressive myoclonus epilepsy 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254800 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:254900 LEXMATCH -MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia skos:closeMatch DOID:0080991 multiminicore disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:255320 LEXMATCH MONDO:0009762 nystagmus, congenital, autosomal recessive skos:closeMatch DOID:0111797 autosomal recessive congenital nystagmus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:257400 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label omodysplasia type 1 LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:closeMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:258315 LEXMATCH MONDO:0009862 dihydropteridine reductase deficiency skos:closeMatch DOID:0081130 BH4-deficient hyperphenylalaninemia C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:261630 LEXMATCH MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264070 LEXMATCH MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency skos:closeMatch DOID:0081131 BH4-deficient hyperphenylalaninemia D semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia (hpa) due to pterin-4-alpha-carbinolamine dehydratase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label 17-beta hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym 17-ksr deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym neutral type 17-beta-hydroxysteroid oxidoreductase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:closeMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264300 LEXMATCH +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch DOID:0081333 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeroid syndrome, neonatal LEXMATCH +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:closeMatch DOID:0081333 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264090 LEXMATCH MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria skos:closeMatch DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266130 LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:closeMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:266510 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 48 LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:closeMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:269840 LEXMATCH -MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:closeMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271600 LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564796 LEXMATCH -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with intellectual disability LEXMATCH MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271620 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564794 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spondylometaepiphyseal dysplasia short limb-hand type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-abnormal calcification type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed short limb-hand type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaepiphyseal dysplasia, short limb-hand type LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed type 2 LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smed-sl/ac LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:closeMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:271665 LEXMATCH -MONDO:0010090 Summitt syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0010132 familial thyroid dyshormonogenesis skos:closeMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564766 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536479 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276880 LEXMATCH -MONDO:0010167 urocanic aciduria skos:closeMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label urocanase deficiency LEXMATCH +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type skos:closeMatch DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia tarda with intellectual disability LEXMATCH MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation skos:closeMatch DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277180 LEXMATCH MONDO:0010186 vitamin D-dependent rickets, type 2A skos:closeMatch DOID:0080884 vitamin D-dependent rickets type 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277440 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277450 LEXMATCH MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 skos:closeMatch DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564741 LEXMATCH -MONDO:0010222 X-linked Opitz G/BBB syndrome skos:closeMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300000 LEXMATCH MONDO:0010230 intellectual disability, X-linked 23 skos:closeMatch DOID:0112049 non-syndromic X-linked intellectual disability 23 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300046 LEXMATCH MONDO:0010231 intellectual disability, X-linked 20 skos:closeMatch DOID:0112023 non-syndromic X-linked intellectual disability 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300047 LEXMATCH MONDO:0010236 intellectual disability, X-linked 14 skos:closeMatch DOID:0112027 non-syndromic X-linked intellectual disability 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300062 LEXMATCH @@ -176,33 +91,26 @@ MONDO:0010250 intellectual disability, X-linked 49 skos:closeMatch DOID:0112060 MONDO:0010251 intellectual disability, X-linked 50 skos:closeMatch DOID:0112029 non-syndromic X-linked intellectual disability 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300115 LEXMATCH MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300143 LEXMATCH MONDO:0010256 intellectual disability, X-linked 21 skos:closeMatch DOID:0112022 non-syndromic X-linked intellectual disability 21 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx21 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300166 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym syndromic microphthalmia type 2 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia cataracts radiculomegaly and septal heart defects LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:closeMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label syndromic microphthalmia type 2 LEXMATCH MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300210 LEXMATCH MONDO:0010266 intellectual disability, X-linked 58 skos:closeMatch DOID:0112024 non-syndromic X-linked intellectual disability 58 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx58 LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:closeMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300215 LEXMATCH -MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 LEXMATCH MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx72 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300323 LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:closeMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH +MONDO:0010289 intellectual disability, X-linked 72 skos:closeMatch DOID:0112059 non-syndromic X-linked intellectual disability 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300271 LEXMATCH MONDO:0010300 intellectual disability, X-linked 53 skos:closeMatch DOID:0112047 non-syndromic X-linked intellectual disability 53 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300324 LEXMATCH MONDO:0010307 intellectual disability, X-linked 73 skos:closeMatch DOID:0112017 non-syndromic X-linked intellectual disability 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300355 LEXMATCH MONDO:0010309 intellectual disability, X-linked 42 skos:closeMatch DOID:0112057 non-syndromic X-linked intellectual disability 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300372 LEXMATCH -MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 LEXMATCH MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx63 LEXMATCH MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acsl4-related intellectual disability LEXMATCH -MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arx-related intellectual disability LEXMATCH +MONDO:0010313 intellectual disability, X-linked 63 skos:closeMatch DOID:0112050 non-syndromic X-linked intellectual disability 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300387 LEXMATCH MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxarx LEXMATCH +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arx-related intellectual disability LEXMATCH MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related skos:closeMatch DOID:0112021 non-syndromic X-linked intellectual disability ARX-related semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300419 LEXMATCH MONDO:0010322 intellectual disability, X-linked 2 skos:closeMatch DOID:0112016 non-syndromic X-linked intellectual disability 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300428 LEXMATCH MONDO:0010324 intellectual disability, X-linked 81 skos:closeMatch DOID:0112033 non-syndromic X-linked intellectual disability 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300433 LEXMATCH +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sdsx LEXMATCH MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300434 LEXMATCH -MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type skos:closeMatch DOID:0112126 Stocco Dos Santos type X-linked intellectual disability semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stocco dos santos x-linked mental retardation syndrome LEXMATCH -MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx46 LEXMATCH MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300436 LEXMATCH +MONDO:0010326 intellectual disability, X-linked 46 skos:closeMatch DOID:0112055 non-syndromic X-linked intellectual disability 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx46 LEXMATCH MONDO:0010329 intellectual disability, X-linked 77 skos:closeMatch DOID:0112039 non-syndromic X-linked intellectual disability 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300454 LEXMATCH MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300498 LEXMATCH MONDO:0010344 intellectual disability, X-linked 45 skos:closeMatch DOID:0112028 non-syndromic X-linked intellectual disability 45 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx45 LEXMATCH @@ -216,44 +124,27 @@ MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 MONDO:0010363 intellectual disability, X-linked 91 skos:closeMatch DOID:0112043 non-syndromic X-linked intellectual disability 91 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx91 LEXMATCH MONDO:0010369 nystagmus 5, congenital, X-linked skos:closeMatch DOID:0111796 congenital nystagmus 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300589 LEXMATCH MONDO:0010373 premature ovarian failure 2B skos:closeMatch DOID:0080859 primary ovarian insufficiency 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300604 LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:closeMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300614 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567068 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 34 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 34, mycobacteriosis, x-linked LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:closeMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300645 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300653 LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pgk1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:closeMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567067 LEXMATCH MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx93 LEXMATCH MONDO:0010393 intellectual disability, X-linked 93 skos:closeMatch DOID:0112045 non-syndromic X-linked intellectual disability 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300659 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566878 LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:closeMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300673 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567478 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300703 LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:closeMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spinocerebellar ataxia, x-linked type 5 LEXMATCH MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset skos:closeMatch DOID:0080687 reducing body myopathy 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300718 LEXMATCH -MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 LEXMATCH MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx96 LEXMATCH -MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz LEXMATCH +MONDO:0010429 intellectual disability, X-linked 96 skos:closeMatch DOID:0112035 non-syndromic X-linked intellectual disability 96 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300802 LEXMATCH MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx97 LEXMATCH +MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrxz LEXMATCH MONDO:0010430 intellectual disability, X-linked 97 skos:closeMatch DOID:0112046 non-syndromic X-linked intellectual disability 97 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300803 LEXMATCH MONDO:0010435 nystagmus 6, congenital, X-linked skos:closeMatch DOID:0111795 congenital nystagmus 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300814 LEXMATCH MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300844 LEXMATCH MONDO:0010447 intellectual disability, X-linked 19 skos:closeMatch DOID:0112019 non-syndromic X-linked intellectual disability 19 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx19 LEXMATCH MONDO:0010450 intellectual disability, X-linked 89 skos:closeMatch DOID:0112031 non-syndromic X-linked intellectual disability 89 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300848 LEXMATCH -MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 LEXMATCH MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx41 LEXMATCH -MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 LEXMATCH +MONDO:0010451 intellectual disability, X-linked 41 skos:closeMatch DOID:0112058 non-syndromic X-linked intellectual disability 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300849 LEXMATCH MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx90 LEXMATCH +MONDO:0010452 intellectual disability, X-linked 90 skos:closeMatch DOID:0112041 non-syndromic X-linked intellectual disability 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300850 LEXMATCH MONDO:0010453 intellectual disability, X-linked 92 skos:closeMatch DOID:0112032 non-syndromic X-linked intellectual disability 92 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300851 LEXMATCH MONDO:0010454 intellectual disability, X-linked 88 skos:closeMatch DOID:0112053 non-syndromic X-linked intellectual disability 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300852 LEXMATCH MONDO:0010468 aneurysm, intracranial berry, 5 skos:closeMatch DOID:0080968 intracranial berry aneurysm 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300870 LEXMATCH MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx98 LEXMATCH MONDO:0010483 X-linked intellectual disability, Cantagrel type skos:closeMatch DOID:0112044 non-syndromic X-linked intellectual disability 98 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300912 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym maine microphthalmos LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:closeMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300915 LEXMATCH MONDO:0010486 Olmsted syndrome, X-linked skos:closeMatch DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300918 LEXMATCH MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx99 LEXMATCH MONDO:0010487 intellectual disability, X-linked 99 skos:closeMatch DOID:0112026 non-syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300919 LEXMATCH @@ -261,147 +152,67 @@ MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch DOID:0112040 MONDO:0010488 intellectual disability, X-linked 100 skos:closeMatch DOID:0112040 non-syndromic X-linked intellectual disability 100 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300923 LEXMATCH MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx101 LEXMATCH MONDO:0010489 intellectual disability, X-linked 101 skos:closeMatch DOID:0112048 non-syndromic X-linked intellectual disability 101 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300928 LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:closeMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300934 LEXMATCH -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 LEXMATCH MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300943 LEXMATCH +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 skos:closeMatch DOID:0112007 growth hormone secreting pituitary adenoma 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acromegaly due to pituitary adenoma type 2 LEXMATCH MONDO:0010495 trichothiodystrophy 5, nonphotosensitive skos:closeMatch DOID:0111868 nonphotosensitive trichothiodystrophy 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300953 LEXMATCH MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted skos:closeMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300968 LEXMATCH -MONDO:0010506 intellectual disability, X-linked 61 skos:closeMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300978 LEXMATCH MONDO:0010508 intellectual disability, X-linked 103 skos:closeMatch DOID:0112020 non-syndromic X-linked intellectual disability 103 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300982 LEXMATCH MONDO:0010509 intellectual disability, X-linked 104 skos:closeMatch DOID:0112018 non-syndromic X-linked intellectual disability 104 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300983 LEXMATCH MONDO:0010510 intellectual disability, X-linked 105 skos:closeMatch DOID:0112036 non-syndromic X-linked intellectual disability 105 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300984 LEXMATCH MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked skos:closeMatch DOID:0111863 X-linked congenital bilateral absence of vas deferens semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300985 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:closeMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300988 LEXMATCH MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked skos:closeMatch DOID:0111850 primary ciliary dyskinesia 36 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300991 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax3 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301790 LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:closeMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537315 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301840 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537316 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:closeMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax4 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:closeMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302500 LEXMATCH -MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 LEXMATCH MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:302600 LEXMATCH +MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scax2 LEXMATCH MONDO:0010548 spinocerebellar ataxia, X-linked 2 skos:closeMatch DOID:0111830 X-linked spinocerebellar ataxia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cerebellar ataxia with extrapyramidal involvement early-onset LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:closeMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304400 LEXMATCH MONDO:0010581 diabetes insipidus, nephrogenic, X-linked skos:closeMatch DOID:0081060 X-linked nephrogenic diabetes insipidus semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:304800 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ectodermal dysplasia type 1 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic, x-linked LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ectodermal dysplasia type 1, hypohidrotic/hair/tooth type, x-linked LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:305100 LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym xlhed LEXMATCH MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked skos:closeMatch DOID:0080754 X-linked keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308800 LEXMATCH MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis skos:closeMatch DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:308990 LEXMATCH MONDO:0010655 X-linked intellectual disability with marfanoid habitus skos:closeMatch DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309520 LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:closeMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309530 LEXMATCH MONDO:0010659 FRAXE intellectual disability skos:closeMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile xe syndrome LEXMATCH MONDO:0010659 FRAXE intellectual disability skos:closeMatch DOID:0080984 X-linked intellectual developmental disorder 109 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309548 LEXMATCH MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx9 LEXMATCH MONDO:0010660 intellectual disability, X-linked 9 skos:closeMatch DOID:0112034 non-syndromic X-linked intellectual disability 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309549 LEXMATCH MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:309555 LEXMATCH MONDO:0010661 severe X-linked intellectual disability, Gustavson type skos:closeMatch DOID:0081123 X-linked mental retardation Gustavson type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked mental retardation gustavson type LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH -MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure skos:closeMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310468 LEXMATCH MONDO:0010693 nystagmus 1, congenital, X-linked skos:closeMatch DOID:0111790 congenital nystagmus 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:310700 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fmr1-related primary ovarian insufficiency LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fragile x-associated primary ovarian insufficiency LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:closeMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:311360 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536692 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:closeMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:312910 LEXMATCH MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B skos:closeMatch DOID:0080887 vitamin D-dependent rickets type 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600081 LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral defect with anterior meningocele LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sacral agenesis LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label caudal regression syndrome LEXMATCH -MONDO:0010831 familial caudal dysgenesis skos:closeMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym caudal dysgenesis syndrome LEXMATCH -MONDO:0010865 pseudoaminopterin syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement skos:closeMatch DOID:0081017 congenital fibrosis of the extraocular muscles 3A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600638 LEXMATCH MONDO:0010931 vitamin D-dependent rickets, type 2B skos:closeMatch DOID:0080885 vitamin D-dependent rickets type 2B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600785 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:closeMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601076 LEXMATCH MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 skos:closeMatch DOID:0081016 congenital fibrosis of the extraocular muscles 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602078 LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym faisalabad histiocytosis LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym histiocytosis with joint contractures and sensorineural deafness LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label histiocytosis-lymphadenopathy plus syndrome LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sinus histiocytosis and massive lymphadenopathy LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pigmented hypertrichosis with insulin-dependent diabetes mellitus LEXMATCH -MONDO:0011273 H syndrome skos:closeMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:602782 LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:closeMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603472 LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:closeMatch DOID:0080770 autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:603902 LEXMATCH MONDO:0011414 Peters anomaly skos:closeMatch DOID:0080610 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604229 LEXMATCH MONDO:0011414 Peters anomaly skos:closeMatch DOID:0080610 anterior segment dysgenesis 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 5 LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:closeMatch DOID:0080675 Stickler syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:604841 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:closeMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605637 LEXMATCH MONDO:0011593 seizures, benign familial infantile, 2 skos:closeMatch DOID:0081115 benign familial infantile seizures 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605751 LEXMATCH MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency skos:closeMatch DOID:0070341 neonatal-onset type II citrullinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605814 LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:closeMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606164 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565232 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606367 LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cd25 deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2ra deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:closeMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 41 with lymphoproliferation and autoimmunity LEXMATCH MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency skos:closeMatch DOID:0080731 Ehlers-Danlos syndrome classic-like 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606408 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607326 LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:closeMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 1 LEXMATCH MONDO:0011828 intellectual disability, autosomal recessive 2 skos:closeMatch DOID:0081178 autosomal recessive intellectual developmental disorder 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607417 LEXMATCH -MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564393 LEXMATCH MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607473 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym smd with bowed forearms and facial dysmorphism LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535791 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:closeMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607543 LEXMATCH +MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 skos:closeMatch DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564393 LEXMATCH MONDO:0011864 immunodeficiency, common variable, 1 skos:closeMatch DOID:0081144 common variable immunodeficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607594 LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:closeMatch DOID:0081116 benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607745 LEXMATCH MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to skos:closeMatch DOID:0112245 focal segmental glomerulosclerosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607832 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:607932 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia and pituitary anomalies LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566440 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:closeMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia LEXMATCH MONDO:0012015 nystagmus 3, congenital, autosomal dominant skos:closeMatch DOID:0111793 congenital nystagmus 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608345 LEXMATCH -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:closeMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608358 LEXMATCH MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608361 LEXMATCH MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sedk LEXMATCH MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type skos:closeMatch DOID:0112282 spondyloepiphyseal dysplasia Kimberley type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564252 LEXMATCH MONDO:0012037 intellectual disability, autosomal recessive 3 skos:closeMatch DOID:0081179 autosomal recessive intellectual developmental disorder 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608443 LEXMATCH MONDO:0012053 aneurysm, intracranial berry, 2 skos:closeMatch DOID:0080965 intracranial berry aneurysm 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608542 LEXMATCH MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy skos:closeMatch DOID:0081129 mandibuloacral dysplasia type B lipodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608612 LEXMATCH -MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 LEXMATCH MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 2 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563825 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608940 LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:closeMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia with cone-rod dystrophy LEXMATCH +MONDO:0012097 spondylocostal dysostosis 2, autosomal recessive skos:closeMatch DOID:0112362 spondylocostal dysostosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608681 LEXMATCH MONDO:0012169 premature ovarian failure 3 skos:closeMatch DOID:0080860 primary ovarian insufficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:608996 LEXMATCH MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609052 LEXMATCH -MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia type a4 LEXMATCH MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563803 LEXMATCH +MONDO:0012185 spondylometaphyseal dysplasia, A4 type skos:closeMatch DOID:0112301 spondylometaphyseal dysplasia type A4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylometaphyseal dysplasia type a4 LEXMATCH MONDO:0012194 aneurysm, intracranial berry, 3 skos:closeMatch DOID:0080966 intracranial berry aneurysm 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609122 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609128 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:closeMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c563791 LEXMATCH MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type skos:closeMatch DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609223 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:closeMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609241 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609242 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:closeMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label kanzaki disorder LEXMATCH MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c skos:closeMatch DOID:0081019 congenital fibrosis of the extraocular muscles 3C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609384 LEXMATCH MONDO:0012274 acromesomelic dysplasia 3 skos:closeMatch DOID:0081237 acromesomelic dysplasia-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609441 LEXMATCH -MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 LEXMATCH MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 3 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565223 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609815 LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:closeMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label zygodactyly type 1 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 54 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566492 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:closeMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609981 LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:closeMatch DOID:0081318 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610017 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:closeMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610099 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610125 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:closeMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566441 LEXMATCH +MONDO:0012349 spondylocostal dysostosis 3, autosomal recessive skos:closeMatch DOID:0112361 spondylocostal dysostosis 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609813 LEXMATCH MONDO:0012443 aneurysm, intracranial berry, 4 skos:closeMatch DOID:0080967 intracranial berry aneurysm 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610213 LEXMATCH MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610256 LEXMATCH MONDO:0012456 congenital primary aphakia skos:closeMatch DOID:0080607 anterior segment dysgenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anterior segment dysgenesis type 2 LEXMATCH -MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 skos:closeMatch DOID:0081119 benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610353 LEXMATCH -MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 LEXMATCH MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610618 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym kostmann disorder LEXMATCH -MONDO:0012548 Kostmann syndrome skos:closeMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610738 LEXMATCH +MONDO:0012526 hereditary angioedema type 3 skos:closeMatch DOID:0080940 hereditary angioedema type III semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d056828 LEXMATCH MONDO:0012612 intellectual disability, autosomal recessive 12 skos:closeMatch DOID:0081180 autosomal recessive intellectual developmental disorder 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611090 LEXMATCH MONDO:0012613 intellectual disability, autosomal recessive 5 skos:closeMatch DOID:0081181 autosomal recessive intellectual developmental disorder 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611091 LEXMATCH MONDO:0012614 intellectual disability, autosomal recessive 6 skos:closeMatch DOID:0081182 autosomal recessive intellectual developmental disorder 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611092 LEXMATCH @@ -410,65 +221,34 @@ MONDO:0012617 intellectual disability, autosomal recessive 9 skos:closeMatch DOI MONDO:0012618 intellectual disability, autosomal recessive 10 skos:closeMatch DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611096 LEXMATCH MONDO:0012619 intellectual disability, autosomal recessive 11 skos:closeMatch DOID:0081186 autosomal recessive intellectual developmental disorder 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611097 LEXMATCH MONDO:0012623 intellectual disability, autosomal recessive 4 skos:closeMatch DOID:0081187 autosomal recessive intellectual developmental disorder 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611107 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567006 LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:closeMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611126 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:closeMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611222 LEXMATCH MONDO:0012689 premature ovarian failure 5 skos:closeMatch DOID:0080862 primary ovarian insufficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611548 LEXMATCH MONDO:0012713 spondylometaphyseal dysplasia, East African type skos:closeMatch DOID:0112302 spondylometaphyseal dysplasia East African type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611702 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fantasy island syndrome LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567128 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611717 LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed-bds LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:closeMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondyloepiphyseal dysplasia-brachydactyly and distinctive speech LEXMATCH MONDO:0012752 aneurysm, intracranial berry, 6 skos:closeMatch DOID:0080969 intracranial berry aneurysm 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:611892 LEXMATCH MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mitochondrial neurogastrointestinal encephalopathy syndrome, rrm2b-related LEXMATCH MONDO:0012792 mitochondrial DNA depletion syndrome 8a skos:closeMatch DOID:0070331 mitochondrial DNA depletion syndrome 8b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612075 LEXMATCH MONDO:0012810 aneurysm, intracranial berry, 7 skos:closeMatch DOID:0080970 intracranial berry aneurysm 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612161 LEXMATCH MONDO:0012811 aneurysm, intracranial berry, 8 skos:closeMatch DOID:0080971 intracranial berry aneurysm 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612162 LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive protein c deficiency LEXMATCH -MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567353 LEXMATCH MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612304 LEXMATCH +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c567353 LEXMATCH +MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive skos:closeMatch DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal recessive protein c deficiency LEXMATCH MONDO:0012861 premature ovarian failure 6 skos:closeMatch DOID:0080863 primary ovarian insufficiency 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612310 LEXMATCH MONDO:0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type skos:closeMatch DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612350 LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:closeMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9866/3 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612541 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:closeMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dursun syndrome LEXMATCH MONDO:0012949 aneurysm, intracranial berry, 9 skos:closeMatch DOID:0080972 intracranial berry aneurysm 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612586 LEXMATCH MONDO:0012950 aneurysm, intracranial berry, 10 skos:closeMatch DOID:0080973 intracranial berry aneurysm 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612587 LEXMATCH MONDO:0012965 seizures, benign familial infantile, 4 skos:closeMatch DOID:0081117 benign familial infantile seizures 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612627 LEXMATCH MONDO:0012987 agammaglobulinemia 6, autosomal recessive skos:closeMatch DOID:0081138 agammaglobulinemia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612692 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 1 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 9 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612782 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:closeMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557826 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c557827 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612783 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 10 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immune dysfunction with t-cell inactivation due to calcium entry defect type 2 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:closeMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym stim1 deficiency LEXMATCH MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant skos:closeMatch DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612843 LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:closeMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612951 LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:closeMatch DOID:0081319 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612961 LEXMATCH MONDO:0013065 premature ovarian failure 7 skos:closeMatch DOID:0080864 primary ovarian insufficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612964 LEXMATCH -MONDO:0013073 palmoplantar keratoderma, nonepidermolytic, focal 1 skos:closeMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label focal nonepidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:closeMatch DOID:0080778 transient infantile liver failure semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613070 LEXMATCH MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant skos:closeMatch DOID:0112131 severe congenital neutropenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613107 LEXMATCH MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb3 LEXMATCH MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 skos:closeMatch DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613151 LEXMATCH MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb4 LEXMATCH MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 skos:closeMatch DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613152 LEXMATCH -MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 LEXMATCH MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613156 LEXMATCH +MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 skos:closeMatch DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb2 LEXMATCH MONDO:0013173 intellectual disability, autosomal recessive 13 skos:closeMatch DOID:0081098 autosomal recessive intellectual developmental disorder 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613192 LEXMATCH MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type skos:closeMatch DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613320 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:613339 LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water immersion epilepsy LEXMATCH MONDO:0013230 epilepsy, hot water, 2 skos:closeMatch DOID:0081107 hot water epilepsy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613340 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 2 LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:closeMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613451 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontonasal dysplasia type 3 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:closeMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613456 LEXMATCH MONDO:0013283 immunodeficiency, common variable, 3 skos:closeMatch DOID:0081146 common variable immunodeficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613493 LEXMATCH MONDO:0013284 immunodeficiency, common variable, 4 skos:closeMatch DOID:0081147 common variable immunodeficiency 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613494 LEXMATCH MONDO:0013285 immunodeficiency, common variable, 5 skos:closeMatch DOID:0081148 common variable immunodeficiency 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613495 LEXMATCH @@ -476,16 +256,14 @@ MONDO:0013286 immunodeficiency, common variable, 6 skos:closeMatch DOID:0081149 MONDO:0013287 agammaglobulinemia 2, autosomal recessive skos:closeMatch DOID:0081135 agammaglobulinemia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613500 LEXMATCH MONDO:0013288 agammaglobulinemia 3, autosomal recessive skos:closeMatch DOID:0081137 agammaglobulinemia 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613501 LEXMATCH MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency skos:closeMatch DOID:0080925 cytochrome P450 oxidoreductase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613571 LEXMATCH -MONDO:0013324 lymphedema-posterior choanal atresia syndrome skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613686 LEXMATCH MONDO:0013366 spondylocostal dysostosis 4, autosomal recessive skos:closeMatch DOID:0112364 spondylocostal dysostosis 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 4 LEXMATCH MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613930 LEXMATCH MONDO:0013492 alopecia-intellectual disability syndrome 3 skos:closeMatch DOID:0080951 alopecia-mental retardation syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia-mental retardation syndrome type 3 LEXMATCH MONDO:0013502 amyloidosis, primary localized cutaneous, 2 skos:closeMatch DOID:0080931 primary localized cutaneous amyloidosis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613955 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:closeMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613958 LEXMATCH +MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch DOID:0081334 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614008 LEXMATCH +MONDO:0013523 Nestor-Guillermo progeria syndrome skos:closeMatch DOID:0081334 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym progeria syndrome, childhood-onset, with osteolysis LEXMATCH MONDO:0013528 intellectual disability, autosomal recessive 14 skos:closeMatch DOID:0081188 autosomal recessive intellectual developmental disorder 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614020 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:closeMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614065 LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:closeMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614078 LEXMATCH MONDO:0013629 intellectual disability, autosomal recessive 16 skos:closeMatch DOID:0081189 autosomal recessive intellectual developmental disorder 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614208 LEXMATCH MONDO:0013651 intellectual disability, autosomal recessive 18 skos:closeMatch DOID:0081190 autosomal recessive intellectual developmental disorder 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614249 LEXMATCH MONDO:0013654 aneurysm, intracranial berry, 11 skos:closeMatch DOID:0080974 intracranial berry aneurysm 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614252 LEXMATCH @@ -498,116 +276,66 @@ MONDO:0013706 intellectual disability, autosomal recessive 23 skos:closeMatch DO MONDO:0013707 intellectual disability, autosomal recessive 24 skos:closeMatch DOID:0081197 autosomal recessive intellectual developmental disorder 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614345 LEXMATCH MONDO:0013708 intellectual disability, autosomal recessive 25 skos:closeMatch DOID:0081198 autosomal recessive intellectual developmental disorder 25 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614346 LEXMATCH MONDO:0013709 intellectual disability, autosomal recessive 28 skos:closeMatch DOID:0081199 autosomal recessive intellectual developmental disorder 28 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614347 LEXMATCH -MONDO:0013730 graft versus host disease skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d006086 LEXMATCH MONDO:0013734 microphthalmia, syndromic 11 skos:closeMatch DOID:0111804 syndromic microphthalmia 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614402 LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:closeMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614434 LEXMATCH -MONDO:0013773 porencephaly 2 skos:closeMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614483 LEXMATCH MONDO:0013785 intellectual disability, autosomal recessive 34 skos:closeMatch DOID:0081200 autosomal recessive intellectual developmental disorder 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614499 LEXMATCH MONDO:0013862 immunodeficiency, common variable, 7 skos:closeMatch DOID:0081150 common variable immunodeficiency 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614699 LEXMATCH MONDO:0013863 combined immunodeficiency due to LRBA deficiency skos:closeMatch DOID:0081151 common variable immunodeficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614700 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:closeMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614753 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:closeMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614807 LEXMATCH MONDO:0013903 nystagmus 7, congenital, autosomal dominant skos:closeMatch DOID:0111791 congenital nystagmus 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614826 LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:closeMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614881 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 30 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:closeMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614891 LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 32a LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 32a, mycobacteriosis, autosomal dominant LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:closeMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614893 LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:closeMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614920 LEXMATCH MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement skos:closeMatch DOID:0111729 familial episodic pain syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615040 LEXMATCH MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome skos:closeMatch DOID:0081201 autosomal recessive intellectual developmental disorder 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615162 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615191 LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:closeMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lissencephaly type 5 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:closeMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615206 LEXMATCH +MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency LEXMATCH MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 56 LEXMATCH MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615207 LEXMATCH -MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome skos:closeMatch DOID:0111982 immunodeficiency 56 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il21r immunodeficiency LEXMATCH MONDO:0014083 agammaglobulinemia 7, autosomal recessive skos:closeMatch DOID:0081139 agammaglobulinemia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615214 LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615222 LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:closeMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label smith-mccort dysplasia type 2 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:closeMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615285 LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:closeMatch DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615286 LEXMATCH MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures skos:closeMatch DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615290 LEXMATCH MONDO:0014125 symphalangism, proximal, 1B skos:closeMatch DOID:0080788 proximal symphalangism 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615298 LEXMATCH MONDO:0014137 precocious puberty, central, 2 skos:closeMatch DOID:0112309 central precocious puberty 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615346 LEXMATCH MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mddgb14 LEXMATCH MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 skos:closeMatch DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615351 LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:closeMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615369 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 12 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:closeMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615468 LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:closeMatch DOID:0112344 hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615491 LEXMATCH MONDO:0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome skos:closeMatch DOID:0081202 autosomal recessive intellectual developmental disorder 37 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615493 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615510 LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:closeMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aamr LEXMATCH MONDO:0014224 developmental delay with autism spectrum disorder and gait instability skos:closeMatch DOID:0081203 autosomal recessive intellectual developmental disorder 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615516 LEXMATCH -MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 LEXMATCH MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects LEXMATCH +MONDO:0014229 microphthalmia, syndromic 12 skos:closeMatch DOID:0111800 syndromic microphthalmia 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615524 LEXMATCH MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch DOID:0080735 Ehlers-Danlos syndrome kyphoscoliotic type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH MONDO:0014236 Ehlers-Danlos syndrome, musculocontractural type 2 skos:closeMatch DOID:0080737 Ehlers-Danlos syndrome musculocontractural type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615539 LEXMATCH MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome skos:closeMatch DOID:0081204 autosomal recessive intellectual developmental disorder 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615541 LEXMATCH MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement skos:closeMatch DOID:0111731 familial episodic pain syndrome 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615552 LEXMATCH MONDO:0014260 immunodeficiency, common variable, 10 skos:closeMatch DOID:0081152 common variable immunodeficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615577 LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:closeMatch DOID:0111959 immunodeficiency 15B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615592 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ox40 deficiency LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615593 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:closeMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 16 LEXMATCH MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome skos:closeMatch DOID:0081205 autosomal recessive intellectual developmental disorder 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615599 LEXMATCH MONDO:0014289 macrocephaly-developmental delay syndrome skos:closeMatch DOID:0081206 autosomal recessive intellectual developmental disorder 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615637 LEXMATCH MONDO:0014321 premature ovarian failure 8 skos:closeMatch DOID:0080865 primary ovarian insufficiency 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615723 LEXMATCH MONDO:0014322 premature ovarian failure 9 skos:closeMatch DOID:0080866 primary ovarian insufficiency 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615724 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615758 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:closeMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 22 LEXMATCH MONDO:0014338 IL21-related infantile inflammatory bowel disease skos:closeMatch DOID:0081153 common variable immunodeficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615767 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615785 LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:closeMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label white sponge nevus type 2 LEXMATCH MONDO:0014354 intellectual disability, autosomal recessive 43 skos:closeMatch DOID:0081207 autosomal recessive intellectual developmental disorder 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615817 LEXMATCH MONDO:0014383 myopathy, tubular aggregate, 2 skos:closeMatch DOID:0080686 tubular aggregate myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615883 LEXMATCH MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615892 LEXMATCH MONDO:0014388 familial median cleft of the upper and lower lips skos:closeMatch DOID:0080407 orofacial cleft 14 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofacial cleft type 14 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615897 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:closeMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 24 LEXMATCH MONDO:0014409 intellectual disability, autosomal recessive 44 skos:closeMatch DOID:0081208 autosomal recessive intellectual developmental disorder 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615942 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:closeMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615966 LEXMATCH MONDO:0014430 intellectual disability, autosomal recessive 45 skos:closeMatch DOID:0081209 autosomal recessive intellectual developmental disorder 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615979 LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:closeMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616022 LEXMATCH MONDO:0014485 pontocerebellar hypoplasia, type 1C skos:closeMatch DOID:0112334 pontocerebellar hypoplasia type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616081 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616094 LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:closeMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related LEXMATCH MONDO:0014499 intellectual disability, autosomal recessive 46 skos:closeMatch DOID:0081210 autosomal recessive intellectual developmental disorder 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616116 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616145 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c535347 LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:closeMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label catel manzke syndrome LEXMATCH MONDO:0014510 fatty acyl-CoA reductase 1 deficiency skos:closeMatch DOID:0081243 rhizomelic chondrodysplasia punctate type 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616154 LEXMATCH MONDO:0014524 intellectual disability, autosomal recessive 47 skos:closeMatch DOID:0081211 autosomal recessive intellectual developmental disorder 47 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616193 LEXMATCH MONDO:0014534 lissencephaly 6 with microcephaly skos:closeMatch DOID:0112236 lissencephaly 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616212 LEXMATCH MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 skos:closeMatch DOID:0081020 congenital fibrosis of the extraocular muscles 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616219 LEXMATCH MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome skos:closeMatch DOID:0081212 autosomal recessive intellectual developmental disorder 48 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616269 LEXMATCH -MONDO:0014561 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia skos:closeMatch DOID:0081134 3-methylglutaconic aciduria type 7b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 LEXMATCH +MONDO:0014561 3-methylglutaconic aciduria, type VIIB skos:closeMatch DOID:0081134 3-methylglutaconic aciduria type 7b semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616271 LEXMATCH MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:closeMatch DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616400 LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune interstitial lung, joint, and kidney disorder LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:closeMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616414 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 40 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:closeMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616433 LEXMATCH MONDO:0014649 intellectual disability, autosomal recessive 50 skos:closeMatch DOID:0081213 autosomal recessive intellectual developmental disorder 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616460 LEXMATCH MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616566 LEXMATCH MONDO:0014694 spondylocostal dysostosis 6, autosomal recessive skos:closeMatch DOID:0112360 spondylocostal dysostosis 6 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spondylocostal dysostosis type 6 LEXMATCH MONDO:0014697 immunodeficiency, common variable, 12 skos:closeMatch DOID:0081154 common variable immunodeficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616576 LEXMATCH MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type skos:closeMatch DOID:0112281 spondyloepiphyseal dysplasia Stanescu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616583 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:closeMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616622 LEXMATCH MONDO:0014755 skin creases, congenital symmetric circumferential, 2 skos:closeMatch DOID:0112243 congenital symmetric circumferential skin creases 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616734 LEXMATCH MONDO:0014759 intellectual disability, autosomal recessive 51 skos:closeMatch DOID:0081214 autosomal recessive intellectual developmental disorder 51 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616739 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym combined immunodeficiency due to tfrc deficiency LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:closeMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616740 LEXMATCH MONDO:0014810 pancytopenia due to IKZF1 mutations skos:closeMatch DOID:0081155 common variable immunodeficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616873 LEXMATCH -MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation LEXMATCH MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616875 LEXMATCH +MONDO:0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; skos:closeMatch DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cerebellar atrophy, visual impairment, and psychomotor retardation LEXMATCH MONDO:0014815 intellectual disability, autosomal recessive 52 skos:closeMatch DOID:0081215 autosomal recessive intellectual developmental disorder 52 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616887 LEXMATCH MONDO:0014840 agammaglobulinemia 8, autosomal dominant skos:closeMatch DOID:0081140 agammaglobulinemia 8A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616941 LEXMATCH MONDO:0014841 trichothiodystrophy 6, nonphotosensitive skos:closeMatch DOID:0111872 nonphotosensitive trichothiodystrophy 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616943 LEXMATCH MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080869 primary ovarian insufficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH MONDO:0014843 premature ovarian failure 11 skos:closeMatch DOID:0080868 primary ovarian insufficiency 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616946 LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:closeMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617014 LEXMATCH MONDO:0014874 pontocerebellar hypoplasia, type 2F skos:closeMatch DOID:0112329 pontocerebellar hypoplasia type 2F semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617026 LEXMATCH MONDO:0014876 intellectual disability, autosomal recessive 54 skos:closeMatch DOID:0081216 autosomal recessive intellectual developmental disorder 54 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617028 LEXMATCH MONDO:0014903 seizures, benign familial infantile, 5 skos:closeMatch DOID:0081118 benign familial infantile seizures 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617080 LEXMATCH @@ -615,25 +343,18 @@ MONDO:0014930 intellectual disability, autosomal recessive 56 skos:closeMatch DO MONDO:0014951 Sotos syndrome 3 skos:closeMatch DOID:0081218 autosomal recessive intellectual developmental disorder 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617169 LEXMATCH MONDO:0014954 Ehlers-Danlos syndrome, periodontal type 2 skos:closeMatch DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617174 LEXMATCH MONDO:0014962 intellectual disability, autosomal recessive 57 skos:closeMatch DOID:0081219 autosomal recessive intellectual developmental disorder 57 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617188 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:closeMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617217 LEXMATCH MONDO:0014975 autosomal recessive spastic paraplegia type 78 skos:closeMatch DOID:0112348 hereditary spastic paraplegia 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617225 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:closeMatch DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617232 LEXMATCH MONDO:0014996 intellectual disability, autosomal recessive 58 skos:closeMatch DOID:0081220 autosomal recessive intellectual developmental disorder 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617270 LEXMATCH MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent skos:closeMatch DOID:0080769 early-onset vitamin B6-dependent epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617290 LEXMATCH -MONDO:0015008 amelogenesis imperfecta, type 1J skos:closeMatch DOID:0080953 amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617297 LEXMATCH -MONDO:0015009 lymphatic malformation 7 skos:closeMatch DOID:0081030 central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617300 LEXMATCH MONDO:0015020 intellectual disability, autosomal recessive 59 skos:closeMatch DOID:0081221 autosomal recessive intellectual developmental disorder 59 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617323 LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:closeMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c565097 LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:closeMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301030 LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:closeMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym globozoospermia LEXMATCH MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 skos:closeMatch DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:225400 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:8815/1 LEXMATCH MONDO:0016238 solitary fibrous tumor skos:closeMatch DOID:0080897 solitary fibrous tumor/hemangiopericytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label solitary fibrous tumor/hemangiopericytoma LEXMATCH -MONDO:0016535 hypohidrotic ectodermal dysplasia skos:closeMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cst syndrome LEXMATCH +MONDO:0016642 meningioma skos:closeMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial meningioma LEXMATCH MONDO:0016642 meningioma skos:closeMatch DOID:0080843 supratentorial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH MONDO:0016642 meningioma skos:closeMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008579 LEXMATCH -MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0080876 IDH-wildtype anaplastic astrocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH +MONDO:0016684 anaplastic astrocytoma skos:closeMatch DOID:0081257 astrocytoma, IDH-mutant, grade 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9401/3 LEXMATCH MONDO:0016691 pilocytic astrocytoma skos:closeMatch DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9421/1 LEXMATCH MONDO:0016691 pilocytic astrocytoma skos:closeMatch DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9421/1 LEXMATCH MONDO:0016695 oligodendroglioma skos:closeMatch DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9450/3 LEXMATCH @@ -643,91 +364,46 @@ MONDO:0016698 ependymoma skos:closeMatch DOID:0080890 supratentorial ependymoma MONDO:0016707 astroblastoma skos:closeMatch DOID:0080904 astroblastoma, MN1-altered semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9430/3 LEXMATCH MONDO:0016710 medulloblastoma with extensive nodularity skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH MONDO:0016711 desmoplastic/nodular medulloblastoma skos:closeMatch DOID:0080705 medulloblastoma SHH activated and TP53 wild-type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9471/3 LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:closeMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9506/1 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081285 myxoid glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:closeMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9509/1 LEXMATCH -MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0017603 ALK-negative anaplastic large cell lymphoma skos:closeMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9702/3 LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:closeMatch DOID:0080916 erythroleukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroleukemia LEXMATCH MONDO:0018177 glioblastoma skos:closeMatch DOID:0080878 IDH-wildtype glioblastoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9440/3 LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:closeMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9867/3 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d015470 LEXMATCH -MONDO:0018874 acute myeloid leukemia skos:closeMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9861/3 LEXMATCH -MONDO:0018905 diffuse large B-cell lymphoma skos:closeMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9680/3 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564038 LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:closeMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300842 LEXMATCH MONDO:0019082 bullous pemphigoid skos:closeMatch DOID:0080841 pemphigoid semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pemphigoid LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:closeMatch DOID:11650 bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001997 LEXMATCH -MONDO:0019134 central neurocytoma skos:closeMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9506/1 LEXMATCH -MONDO:0019162 pseudohypoaldosteronism type 2 skos:closeMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gordon syndrome LEXMATCH -MONDO:0019297 lymphedema skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d008209 LEXMATCH -MONDO:0019313 lymphatic malformation skos:closeMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q82.0 LEXMATCH -MONDO:0019438 AL amyloidosis skos:closeMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym light chain amyloidosis LEXMATCH MONDO:0019456 acute myeloid leukemia with multilineage dysplasia skos:closeMatch DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9895/3 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081307 lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081308 grade I lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081309 grade II lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH +MONDO:0019466 lymphomatoid granulomatosis skos:closeMatch DOID:0081308 grade I lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9766/1 LEXMATCH MONDO:0019568 Ehlers-Danlos syndrome, classic type, 2 skos:closeMatch DOID:0080726 Ehlers-Danlos syndrome classic type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130010 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:closeMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:216400 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:closeMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:133540 LEXMATCH MONDO:0019781 astrocytoma (excluding glioblastoma) skos:closeMatch DOID:0081256 astrocytoma, IDH-mutant, grade 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9400/3 LEXMATCH -MONDO:0020074 progressive myoclonus epilepsy skos:closeMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d020191 LEXMATCH -MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:closeMatch DOID:0081094 acute myeloid leukemia with MLL rearrangement semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9897/3 LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:closeMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9874/3 LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:closeMatch DOID:0081311 intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icdo:9712/3 LEXMATCH -MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 LEXMATCH MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label king denborough syndrome LEXMATCH +MONDO:0020485 King-Denborough syndrome skos:closeMatch DOID:0080990 King Denborough syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536883 LEXMATCH MONDO:0020496 familial porencephaly skos:closeMatch DOID:0112313 brain small vessel disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:175780 LEXMATCH -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:closeMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618012 LEXMATCH MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis skos:closeMatch DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:207410 LEXMATCH MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 skos:closeMatch DOID:0080736 Ehlers-Danlos syndrome musculocontractural type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601776 LEXMATCH MONDO:0020682 Ehlers-Danlos syndrome, spondylodysplastic type, 1 skos:closeMatch DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130070 LEXMATCH MONDO:0020684 Ehlers-Danlos syndrome, periodontal type 1 skos:closeMatch DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:130080 LEXMATCH MONDO:0020692 spondylocostal dysostosis 1, autosomal recessive skos:closeMatch DOID:0112365 spondylocostal dysostosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:277300 LEXMATCH -MONDO:0020713 pulmonary venoocclusive disease 1 skos:closeMatch DOID:0081268 pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:265450 LEXMATCH -MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:closeMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:274400 LEXMATCH MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 skos:closeMatch DOID:0080652 calcium oxalate nephrolithiasis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:167030 LEXMATCH MONDO:0020723 vitamin D-dependent rickets, type 1A skos:closeMatch DOID:0080886 vitamin D-dependent rickets type 1A semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264700 LEXMATCH MONDO:0020729 autosomal recessive agammaglobulinemia 1 skos:closeMatch DOID:0081136 agammaglobulinemia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601495 LEXMATCH MONDO:0020733 proximal symphalangism 1A skos:closeMatch DOID:0080787 proximal symphalangism 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:185800 LEXMATCH MONDO:0020738 multiple benign circumferential skin creases on limbs 1 skos:closeMatch DOID:0112242 congenital symmetric circumferential skin creases 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:156610 LEXMATCH -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:closeMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618469 LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:closeMatch DOID:0080670 Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122100 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:closeMatch DOID:0081297 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:164310 LEXMATCH MONDO:0020846 intellectual disability, autosomal recessive 64 skos:closeMatch DOID:0081225 autosomal recessive intellectual developmental disorder 64 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618103 LEXMATCH MONDO:0020850 intellectual disability, autosomal recessive 65 skos:closeMatch DOID:0081226 autosomal recessive intellectual developmental disorder 65 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618109 LEXMATCH MONDO:0021013 trichothiodystrophy 4, nonphotosensitive skos:closeMatch DOID:0111867 nonphotosensitive trichothiodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nonphotosensitive trichothiodystrophy LEXMATCH MONDO:0021021 craniodiaphyseal dysplasia, autosomal dominant skos:closeMatch DOID:0080807 autosomal dominant craniodiaphyseal dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:122860 LEXMATCH MONDO:0021083 congenital fibrosis of extraocular muscles type 1 skos:closeMatch DOID:0081015 congenital fibrosis of the extraocular muscles 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:135700 LEXMATCH -MONDO:0022417 alopecia congenita keratosis palmoplantaris skos:closeMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c537050 LEXMATCH -MONDO:0023671 oculopharyngodistal myopathy 3 skos:closeMatch DOID:0081299 oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619473 LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym water immersion epilepsy LEXMATCH -MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bathing epilepsy LEXMATCH MONDO:0024508 epilepsy, hot water, 1 skos:closeMatch DOID:0081106 hot water epilepsy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613339 LEXMATCH MONDO:0024522 amyloidosis, primary localized cutaneous, 1 skos:closeMatch DOID:0080930 primary localized cutaneous amyloidosis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:105250 LEXMATCH -MONDO:0025193 oculopharyngodistal myopathy skos:closeMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:164310 LEXMATCH MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 skos:closeMatch DOID:0112099 nuclear type mitochondrial complex I deficiency 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301020 LEXMATCH MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 skos:closeMatch DOID:0112098 nuclear type mitochondrial complex I deficiency 30 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301021 LEXMATCH MONDO:0026723 intellectual developmental disorder, X-linked 108 skos:closeMatch DOID:0111844 X-linked intellectual developmental disorder 108 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301024 LEXMATCH MONDO:0026729 congenital disorder of glycosylation, type ICC skos:closeMatch DOID:0111839 congenital disorder of glycosylation Icc semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301031 LEXMATCH MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 skos:closeMatch DOID:0111835 congenital nongoitrous hypothyroidism 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301035 LEXMATCH MONDO:0027068 mitochondrial complex 1 deficiency, mitochondrial type 1 skos:closeMatch DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:500014 LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:closeMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618131 LEXMATCH -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618135 LEXMATCH -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:closeMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy, limb-girdle, pomgnt2-related LEXMATCH MONDO:0029137 hearing loss, autosomal dominant 74 skos:closeMatch DOID:0112165 autosomal dominant nonsyndromic deafness 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618140 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:closeMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618141 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:closeMatch DOID:0080950 alopecia-mental retardation syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618840 LEXMATCH MONDO:0030027 tremor, hereditary essential, 6 skos:closeMatch DOID:0081295 essential tremor 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618866 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:closeMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618910 LEXMATCH MONDO:0030058 hearing loss, autosomal dominant 77 skos:closeMatch DOID:0112168 autosomal dominant nonsyndromic deafness 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618915 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:closeMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618916 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:closeMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618959 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:closeMatch DOID:0081298 oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618940 LEXMATCH +MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 skos:closeMatch DOID:0070368 autosomal recessive chronic granulomatous disease 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618935 LEXMATCH MONDO:0030258 pontocerebellar hypoplasia, type 14 skos:closeMatch DOID:0112325 pontocerebellar hypoplasia type 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619301 LEXMATCH MONDO:0030259 pontocerebellar hypoplasia, type 15 skos:closeMatch DOID:0112326 pontocerebellar hypoplasia type 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619302 LEXMATCH MONDO:0030260 pontocerebellar hypoplasia, type 1E skos:closeMatch DOID:0112330 pontocerebellar hypoplasia type 1E semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619303 LEXMATCH @@ -741,17 +417,13 @@ MONDO:0030529 agammaglobulinemia 10, autosomal dominant skos:closeMatch DOID:008 MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 skos:closeMatch DOID:0081233 autosomal recessive intellectual developmental disorder 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619717 LEXMATCH MONDO:0030553 acromesomelic dysplasia 4 skos:closeMatch DOID:0081238 acromesomelic dysplasia-4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619636 LEXMATCH MONDO:0030673 spastic paraplegia 86, autosomal recessive skos:closeMatch DOID:0112342 hereditary spastic paraplegia 86 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619735 LEXMATCH -MONDO:0030712 oculopharyngodistal myopathy 4 skos:closeMatch DOID:0081300 oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619790 LEXMATCH +MONDO:0030781 restrictive dermopathy 2 skos:closeMatch DOID:0070370 restrictive dermopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619793 LEXMATCH MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:closeMatch DOID:0081234 autosomal recessive intellectual developmental disorder 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619827 LEXMATCH MONDO:0030847 arthrogryposis, distal, type 1C skos:closeMatch DOID:0112190 distal arthrogryposis type 1C semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619110 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:closeMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619131 LEXMATCH MONDO:0030869 spermatogenic failures 50 skos:closeMatch DOID:0112272 spermatogenic failure 50 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619145 LEXMATCH MONDO:0030870 premature ovarian failure 17 skos:closeMatch DOID:0080874 primary ovarian insufficiency 17 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619146 LEXMATCH -MONDO:0030939 premature ovarian failure 18 skos:closeMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619203 LEXMATCH MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 skos:closeMatch DOID:0081235 autosomal recessive intellectual developmental disorder 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619931 LEXMATCH -MONDO:0030985 premature ovarian failure 19 skos:closeMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619245 LEXMATCH MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 skos:closeMatch DOID:0081236 autosomal recessive intellectual developmental disorder 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619988 LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:closeMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618201 LEXMATCH MONDO:0032605 intellectual disability, autosomal recessive 66 skos:closeMatch DOID:0081227 autosomal recessive intellectual developmental disorder 66 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618221 LEXMATCH MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 skos:closeMatch DOID:0112083 nuclear type mitochondrial complex I deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618222 LEXMATCH MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 skos:closeMatch DOID:0112093 nuclear type mitochondrial complex I deficiency 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618224 LEXMATCH @@ -783,72 +455,39 @@ MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 skos:closeMatc MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 skos:closeMatch DOID:0112080 nuclear type mitochondrial complex I deficiency 32 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618252 LEXMATCH MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 skos:closeMatch DOID:0112097 nuclear type mitochondrial complex I deficiency 33 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618253 LEXMATCH MONDO:0032637 ciliary dyskinesia, primary, 39 skos:closeMatch DOID:0111854 primary ciliary dyskinesia 39 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618254 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:closeMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618266 LEXMATCH -MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:closeMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618285 LEXMATCH MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 skos:closeMatch DOID:0081228 autosomal recessive intellectual developmental disorder 67 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618295 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:closeMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618298 LEXMATCH MONDO:0032664 ciliary dyskinesia, primary, 40 skos:closeMatch DOID:0111853 primary ciliary dyskinesia 40 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618300 LEXMATCH MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 skos:closeMatch DOID:0081229 autosomal recessive intellectual developmental disorder 68 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618302 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618328 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:closeMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glutaminase deficiency with neonatal epileptic encephalopathy LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:closeMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618342 LEXMATCH -MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:closeMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618374 LEXMATCH MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 skos:closeMatch DOID:0081230 autosomal recessive intellectual developmental disorder 69 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618383 LEXMATCH -MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed with elevated blood lysosomal enzymes LEXMATCH MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618392 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:closeMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618396 LEXMATCH +MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type skos:closeMatch DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sed with elevated blood lysosomal enzymes LEXMATCH MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 skos:closeMatch DOID:0081231 autosomal recessive intellectual developmental disorder 70 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618402 LEXMATCH MONDO:0032737 spastic paraplegia 80, autosomal dominant skos:closeMatch DOID:0112341 hereditary spastic paraplegia 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618418 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:closeMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618437 LEXMATCH MONDO:0032757 ciliary dyskinesia, primary, 41 skos:closeMatch DOID:0111858 primary ciliary dyskinesia 41 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618449 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:closeMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618468 LEXMATCH MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type skos:closeMatch DOID:0080979 arthrogryposis multiplex congenita-3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618484 LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym il2rb deficiency LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618495 LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:closeMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 skos:closeMatch DOID:0081232 autosomal recessive intellectual developmental disorder 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618504 LEXMATCH MONDO:0032806 trichothiodystrophy 7, nonphotosensitive skos:closeMatch DOID:0111870 nonphotosensitive trichothiodystrophy 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618546 LEXMATCH MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618548 LEXMATCH MONDO:0032808 developmental and epileptic encephalopathy, 77 skos:closeMatch DOID:0112213 developmental and epileptic encephalopathy 77 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 19 LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:closeMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618557 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:closeMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618559 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:closeMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618573 LEXMATCH -MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym glycosylphosphatidylinositol biosynthesis defect type 20 LEXMATCH -MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:closeMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618580 LEXMATCH MONDO:0032831 pontocerebellar hypoplasia, type 13 skos:closeMatch DOID:0112332 pontocerebellar hypoplasia type 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618606 LEXMATCH MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type skos:closeMatch DOID:0112288 spondyloepiphyseal dysplasia Nishimura type semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618618 LEXMATCH -MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label siddiqi syndrome LEXMATCH -MONDO:0032842 Siddiqi syndrome skos:closeMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618635 LEXMATCH MONDO:0032846 osteogenesis imperfecta, type 20 skos:closeMatch DOID:0111849 osteogenesis imperfecta type 20 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618644 LEXMATCH -MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:closeMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618663 LEXMATCH MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 skos:closeMatch DOID:0080765 autosomal recessive intellectual developmental disorder 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618665 LEXMATCH MONDO:0032872 ciliary dyskinesia, primary, 42 skos:closeMatch DOID:0111855 primary ciliary dyskinesia 42 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618695 LEXMATCH MONDO:0032874 ciliary dyskinesia, primary, 43 skos:closeMatch DOID:0111856 primary ciliary dyskinesia 43 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618699 LEXMATCH MONDO:0032879 megabladder, congenital skos:closeMatch DOID:0112014 congenital megabladder semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618719 LEXMATCH -MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:closeMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618721 LEXMATCH MONDO:0032881 premature ovarian failure 16 skos:closeMatch DOID:0080873 primary ovarian insufficiency 16 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618723 LEXMATCH MONDO:0032891 aneurysm, intracranial berry, 12 skos:closeMatch DOID:0080975 intracranial berry aneurysm 12 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618734 LEXMATCH -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures LEXMATCH -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:closeMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618737 LEXMATCH -MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:closeMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618744 LEXMATCH MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym shwachman-diamond syndrome-like LEXMATCH MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch DOID:0112135 severe congenital neutropenia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH -MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome LEXMATCH MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618766 LEXMATCH -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:closeMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618767 LEXMATCH +MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum skos:closeMatch DOID:0080980 arthrogryposis multiplex congenita-4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zain syndrome LEXMATCH MONDO:0032906 spastic paraplegia 82, autosomal recessive skos:closeMatch DOID:0112343 hereditary spastic paraplegia 82 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618770 LEXMATCH MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 skos:closeMatch DOID:0112091 nuclear type mitochondrial complex I deficiency 34 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618776 LEXMATCH MONDO:0032911 hearing loss, autosomal dominant 75 skos:closeMatch DOID:0112166 autosomal dominant nonsyndromic deafness 75 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618778 LEXMATCH MONDO:0032914 ciliary dyskinesia, primary, 44 skos:closeMatch DOID:0111851 primary ciliary dyskinesia 44 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618781 LEXMATCH MONDO:0032917 hearing loss, autosomal dominant 76 skos:closeMatch DOID:0112167 autosomal dominant nonsyndromic deafness 76 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618787 LEXMATCH -MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618792 LEXMATCH -MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:closeMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym jamuar syndrome LEXMATCH MONDO:0032924 ciliary dyskinesia, primary, 45 skos:closeMatch DOID:0111857 primary ciliary dyskinesia 45 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618801 LEXMATCH -MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618804 LEXMATCH -MONDO:0032926 sandestig-stefanova syndrome skos:closeMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label sandestig-stefanova syndrome LEXMATCH -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618982 LEXMATCH -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:closeMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym immunodeficiency type 72 with autoinflammation LEXMATCH MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 skos:closeMatch DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618992 LEXMATCH MONDO:0033560 mitochondrial complex 1 deficiency, nuclear type 35 skos:closeMatch DOID:0112139 nuclear type mitochondrial complex I deficiency 35 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619003 LEXMATCH MONDO:0033614 spastic paraplegia 83, autosomal recessive skos:closeMatch DOID:0112346 hereditary spastic paraplegia 83 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619027 LEXMATCH @@ -858,25 +497,19 @@ MONDO:0033665 hearing loss, autosomal dominant 78 skos:closeMatch DOID:0112159 a MONDO:0033668 hearing loss, autosomal dominant 79 skos:closeMatch DOID:0112160 autosomal dominant nonsyndromic deafness 79 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619086 LEXMATCH MONDO:0033670 hearing loss, autosomal recessive 116 skos:closeMatch DOID:0112162 autosomal recessive nonsyndromic deafness 116 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619093 LEXMATCH MONDO:0033946 hereditary angioedema with C1Inh deficiency skos:closeMatch DOID:0080939 hereditary angioedema type I semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:106100 LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:closeMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618379 LEXMATCH MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 skos:closeMatch DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617821 LEXMATCH MONDO:0042499 benign familial neonatal-infantile seizures 1 skos:closeMatch DOID:0081114 benign familial infantile seizures 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601764 LEXMATCH MONDO:0044313 intellectual disability, autosomal recessive 60 skos:closeMatch DOID:0081222 autosomal recessive intellectual developmental disorder 60 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617432 LEXMATCH MONDO:0044317 premature ovarian failure 13 skos:closeMatch DOID:0080870 primary ovarian insufficiency 13 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617442 LEXMATCH MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym osteogenesis imperfecta, type xviii LEXMATCH MONDO:0044329 osteogenesis imperfecta, type 18 skos:closeMatch DOID:0111848 osteogenesis imperfecta type 18 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617952 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunodeficiency type 55 LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:closeMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617827 LEXMATCH MONDO:0044776 premature ovarian failure 10 skos:closeMatch DOID:0080867 primary ovarian insufficiency 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:612885 LEXMATCH MONDO:0044777 premature ovarian failure 14 skos:closeMatch DOID:0080871 primary ovarian insufficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618014 LEXMATCH MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mrx107 LEXMATCH MONDO:0049222 intellectual disability, X-linked 107 skos:closeMatch DOID:0112054 non-syndromic X-linked intellectual disability 107 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301013 LEXMATCH MONDO:0049223 osteogenesis imperfecta, type 19 skos:closeMatch DOID:0111847 osteogenesis imperfecta type 19 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301014 LEXMATCH -MONDO:0054601 pituitary adenoma 5, multiple types skos:closeMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617540 LEXMATCH -MONDO:0054665 pituitary adenoma 3, multiple types skos:closeMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617686 LEXMATCH MONDO:0054669 pontocerebellar hypoplasia, type 11 skos:closeMatch DOID:0112324 pontocerebellar hypoplasia type 11 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617695 LEXMATCH MONDO:0054691 immunodeficiency, common variable, 14 skos:closeMatch DOID:0081156 common variable immunodeficiency 14 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617765 LEXMATCH -MONDO:0054752 multiple synostoses syndrome 4 skos:closeMatch DOID:0081320 multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617898 LEXMATCH MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 skos:closeMatch DOID:0080732 Ehlers-Danlos syndrome classic-like 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618000 LEXMATCH MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 skos:closeMatch DOID:0080669 posterior polymorphous corneal dystrophy 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618031 LEXMATCH MONDO:0054843 ciliary dyskinesia, primary, 38 skos:closeMatch DOID:0111852 primary ciliary dyskinesia 38 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618063 LEXMATCH @@ -884,16 +517,18 @@ MONDO:0054844 pontocerebellar hypoplasia, type 1D skos:closeMatch DOID:0112323 p MONDO:0054861 intellectual disability, autosomal recessive 63 skos:closeMatch DOID:0081224 autosomal recessive intellectual developmental disorder 63 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618095 LEXMATCH MONDO:0054862 premature ovarian failure 15 skos:closeMatch DOID:0080872 primary ovarian insufficiency 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618096 LEXMATCH MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect skos:closeMatch DOID:0080978 arthrogryposis multiplex congenita-1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617468 LEXMATCH -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:closeMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617718 LEXMATCH -MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:closeMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617913 LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:closeMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618088 LEXMATCH -MONDO:0100048 graft-versus-host disease, susceptibility to skos:closeMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614395 LEXMATCH MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym gtp cyclohydrolase type 1 deficiency LEXMATCH MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia skos:closeMatch DOID:0112225 BH4-deficient hyperphenylalaninemia B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:233910 LEXMATCH MONDO:0100218 arthrogryposis multiplex congenita 5 skos:closeMatch DOID:0080981 arthrogryposis multiplex congenita-5 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618947 LEXMATCH MONDO:0100223 mitochondrial complex I deficiency, nuclear type skos:closeMatch DOID:0112065 nuclear type mitochondrial complex I deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:252010 LEXMATCH MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 skos:closeMatch DOID:0112074 nuclear type mitochondrial complex I deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252010 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref meddra:10068842 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:closeMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614594 LEXMATCH -MONDO:0100488 CDH1-related diffuse gastric and lobular breast cancer skos:closeMatch DOID:0080764 hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:137215 LEXMATCH +MONDO:0800042 restrictive dermopathy 1 skos:closeMatch DOID:0070369 restrictive dermopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:275210 LEXMATCH MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 skos:closeMatch DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:213980 LEXMATCH +MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:closeMatch DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619556 LEXMATCH +MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:closeMatch DOID:0081143 agammaglobulinemia 8B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619824 LEXMATCH +MONDO:0859235 auditory neuropathy, autosomal dominant 3 skos:closeMatch DOID:0112373 autosomal dominant auditory neuropathy 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619832 LEXMATCH +MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:closeMatch DOID:0081133 3-methylglutaconic aciduria type 7a semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619835 LEXMATCH +MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:closeMatch DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620071 LEXMATCH +MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:closeMatch DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620086 LEXMATCH +MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:closeMatch DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620094 LEXMATCH +MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:closeMatch DOID:0081328 familial hyperinsulinemic hypoglycemia 8 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620211 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index 5e8da753..d29e559d 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -8,8 +8,8 @@ MONDO:0000476 generalized dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion MONDO:0000476 generalized dystonia skos:closeMatch ICD10CM:G24.1 Genetic torsion dystonia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dystonia musculorum deformans LEXMATCH MONDO:0000481 cervical dystonia skos:closeMatch ICD10CM:G24.3 Spasmodic torticollis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spasmodic torticollis LEXMATCH MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65.8 Other paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym paraphilias LEXMATCH -MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65 Paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraphilias LEXMATCH MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65.89 Other paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym paraphilias LEXMATCH +MONDO:0000596 paraphilic disorder skos:closeMatch ICD10CM:F65 Paraphilias semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paraphilias LEXMATCH MONDO:0000741 angular cheilitis skos:closeMatch ICD10CM:K13.0 Diseases of lips semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cheilosis LEXMATCH MONDO:0000809 purpura fulminans skos:closeMatch ICD10CM:D65 Disseminated intravascular coagulation [defibrination syndrome] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrinolytic purpura LEXMATCH MONDO:0000888 gastrointestinal mucositis skos:closeMatch ICD10CM:K12.3 Oral mucositis (ulcerative) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucositis LEXMATCH @@ -20,8 +20,8 @@ MONDO:0001209 common wart skos:closeMatch ICD10CM:B07 Viral warts semapv:Lexical MONDO:0001209 common wart skos:closeMatch ICD10CM:B07.8 Other viral warts semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym viral warts LEXMATCH MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym classical typhus LEXMATCH MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym classical typhus (fever) LEXMATCH -MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidemic (louse-borne) typhus LEXMATCH MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label epidemic louse-borne typhus fever due to rickettsia prowazekii LEXMATCH +MONDO:0001246 typhus skos:closeMatch ICD10CM:A75.0 Epidemic louse-borne typhus fever due to Rickettsia prowazekii semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym epidemic (louse-borne) typhus LEXMATCH MONDO:0001256 arteriovenous hemangioma/malformation skos:closeMatch ICD10CM:Q27.3 Arteriovenous malformation (peripheral) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym arteriovenous malformation LEXMATCH MONDO:0001405 dermatophytosis of groin and perianal area skos:closeMatch ICD10CM:B35.6 Tinea cruris semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea cruris LEXMATCH MONDO:0001616 lobomycosis skos:closeMatch ICD10CM:B40.3 Cutaneous blastomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cutaneous blastomycosis LEXMATCH @@ -34,8 +34,8 @@ MONDO:0001809 adhesions of uterus skos:closeMatch ICD10CM:N85.6 Intrauterine syn MONDO:0002046 alcohol abuse skos:closeMatch ICD10CM:F10.2 Alcohol dependence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alcohol dependence LEXMATCH MONDO:0002099 Histoplasma capsulatum infectious disease skos:closeMatch ICD10CM:B39.4 Histoplasmosis capsulati, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym american histoplasmosis LEXMATCH MONDO:0002245 blood platelet disease skos:closeMatch ICD10CM:D69.1 Qualitative platelet defects semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym thrombocytopathy LEXMATCH -MONDO:0002249 thrombocytosis disease skos:closeMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym thrombocytosis LEXMATCH MONDO:0002249 thrombocytosis disease skos:closeMatch ICD10CM:D75.83 Thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label thrombocytosis LEXMATCH +MONDO:0002249 thrombocytosis disease skos:closeMatch ICD10CM:D75.838 Other thrombocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym thrombocytosis LEXMATCH MONDO:0002457 Treacher-Collins syndrome skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome LEXMATCH MONDO:0002471 bursitis skos:closeMatch ICD10CM:M75.0 Adhesive capsulitis of shoulder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym frozen shoulder LEXMATCH MONDO:0002572 aspiration pneumonitis skos:closeMatch ICD10CM:J69.0 Pneumonitis due to inhalation of food and vomit semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aspiration pneumonia LEXMATCH @@ -50,8 +50,8 @@ MONDO:0003406 sleep-wake disorder skos:closeMatch ICD10CM:G47.8 Other sleep diso MONDO:0003962 Froelich syndrome skos:closeMatch ICD10CM:E23.6 Other disorders of pituitary gland semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym adiposogenital dystrophy LEXMATCH MONDO:0003964 myositis ossificans skos:closeMatch ICD10CM:M61.1 Myositis ossificans progressiva semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym fibrodysplasia ossificans progressiva LEXMATCH MONDO:0004380 dendritic cell sarcoma skos:closeMatch ICD10CM:C96.4 Sarcoma of dendritic cells (accessory cells) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym follicular dendritic cell sarcoma LEXMATCH -MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch ICD10CM:E53.1 Pyridoxine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine deficiency LEXMATCH MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch ICD10CM:E53.1 Pyridoxine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vitamin b6 deficiency LEXMATCH +MONDO:0004574 pyridoxine deficiency anemia skos:closeMatch ICD10CM:E53.1 Pyridoxine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyridoxine deficiency LEXMATCH MONDO:0004596 cor pulmonale skos:closeMatch ICD10CM:I27 Other pulmonary heart diseases semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pulmonary heart disorders LEXMATCH MONDO:0004628 gastroduodenitis skos:closeMatch ICD10CM:K29 Gastritis and duodenitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label gastritis and duodenitis LEXMATCH MONDO:0004631 tongue cancer skos:closeMatch ICD10CM:C02.4 Malignant neoplasm of lingual tonsil semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant neoplasm of lingual tonsil LEXMATCH @@ -70,15 +70,15 @@ MONDO:0005260 autism skos:closeMatch ICD10CM:F84.0 Autistic disorder semapv:Lexi MONDO:0005318 canker sore skos:closeMatch ICD10CM:K12.0 Recurrent oral aphthae semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aphthous stomatitis LEXMATCH MONDO:0005339 androgenetic alopecia skos:closeMatch ICD10CM:L64.8 Other androgenic alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym androgenic alopecia LEXMATCH MONDO:0005339 androgenetic alopecia skos:closeMatch ICD10CM:L64 Androgenic alopecia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label androgenic alopecia LEXMATCH -MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch ICD10CM:A81.0 Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH +MONDO:0005357 Creutzfeldt Jacob disease skos:closeMatch ICD10CM:A81.09 Other Creutzfeldt-Jakob disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label creutzfeldt-jakob disorder LEXMATCH MONDO:0005364 Graves disease skos:closeMatch ICD10CM:E05.0 Thyrotoxicosis with diffuse goiter semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym graves' disorder LEXMATCH MONDO:0005387 primary ovarian failure skos:closeMatch ICD10CM:E28.31 Premature menopause semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label premature menopause LEXMATCH MONDO:0005554 rheumatic disorder skos:closeMatch ICD10CM:M77 Other enthesopathies semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym enthesopathies LEXMATCH MONDO:0005560 brain disorder skos:closeMatch ICD10CM:G93.49 Other encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym encephalopathy LEXMATCH MONDO:0005615 plasmacytoma skos:closeMatch ICD10CM:C90.3 Solitary plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym solitary myeloma LEXMATCH -MONDO:0005623 autoimmune thyroid disease skos:closeMatch ICD10CM:E06.3 Autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune thyroiditis LEXMATCH MONDO:0005623 autoimmune thyroid disease skos:closeMatch ICD10CM:E06.3 Autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lymphocytic thyroiditis LEXMATCH +MONDO:0005623 autoimmune thyroid disease skos:closeMatch ICD10CM:E06.3 Autoimmune thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label autoimmune thyroiditis LEXMATCH MONDO:0005631 actinomycosis skos:closeMatch ICD10CM:B47.1 Actinomycetoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycetoma LEXMATCH MONDO:0005634 acute hemorrhagic conjunctivitis skos:closeMatch ICD10CM:B30.8 Other viral conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym viral conjunctivitis LEXMATCH MONDO:0005634 acute hemorrhagic conjunctivitis skos:closeMatch ICD10CM:B30 Viral conjunctivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label viral conjunctivitis LEXMATCH @@ -88,13 +88,13 @@ MONDO:0005649 appendicitis skos:closeMatch ICD10CM:K35.89 Other acute appendicit MONDO:0005707 coccidiosis skos:closeMatch ICD10CM:A07.3 Isosporiasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym intestinal coccidiosis LEXMATCH MONDO:0005722 croup skos:closeMatch ICD10CM:J04.2 Acute laryngotracheitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute laryngotracheitis LEXMATCH MONDO:0005761 filarial elephantiasis skos:closeMatch ICD10CM:B74.0 Filariasis due to Wuchereria bancrofti semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bancroftian filariasis LEXMATCH -MONDO:0005850 milker's nodule skos:closeMatch ICD10CM:B08.03 Pseudocowpox [milker's node] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudocowpox LEXMATCH MONDO:0005850 milker's nodule skos:closeMatch ICD10CM:B08.03 Pseudocowpox [milker's node] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pseudocowpox LEXMATCH -MONDO:0005916 placenta accreta skos:closeMatch ICD10CM:O43.23 Placenta percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta LEXMATCH +MONDO:0005850 milker's nodule skos:closeMatch ICD10CM:B08.03 Pseudocowpox [milker's node] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pseudocowpox LEXMATCH MONDO:0005916 placenta accreta skos:closeMatch ICD10CM:O43.22 Placenta increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta LEXMATCH +MONDO:0005916 placenta accreta skos:closeMatch ICD10CM:O43.23 Placenta percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta LEXMATCH MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43.89 Other placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym placental disorders LEXMATCH -MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43 Placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placental disorders LEXMATCH MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43.8 Other placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym placental disorders LEXMATCH +MONDO:0005917 placenta disorder skos:closeMatch ICD10CM:O43 Placental disorders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placental disorders LEXMATCH MONDO:0005941 retroperitoneal cancer skos:closeMatch ICD10CM:C48.0 Malignant neoplasm of retroperitoneum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label malignant neoplasm of retroperitoneum LEXMATCH MONDO:0005993 Trichomonas vaginitis urogenital infection skos:closeMatch ICD10CM:A59.09 Other urogenital trichomoniasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym urogenital trichomoniasis LEXMATCH MONDO:0006277 lung lymphangioleiomyomatosis skos:closeMatch ICD10CM:J84.81 Lymphangioleiomyomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphangioleiomyomatosis LEXMATCH @@ -111,8 +111,8 @@ MONDO:0006879 optic papillitis skos:closeMatch ICD10CM:H35.81 Retinal edema sema MONDO:0006921 Actinomycetales infectious disease skos:closeMatch ICD10CM:A42 Actinomycosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycosis LEXMATCH MONDO:0007030 autosomal dominant Aarskog syndrome skos:closeMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym aarskog syndrome LEXMATCH MONDO:0007032 prune belly syndrome skos:closeMatch ICD10CM:Q79.4 Prune belly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym eagle-barrett syndrome LEXMATCH -MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency LEXMATCH MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch ICD10CM:D81.31 Severe combined immunodeficiency due to adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label severe combined immunodeficiency due to adenosine deaminase deficiency LEXMATCH +MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency skos:closeMatch ICD10CM:D81.39 Other adenosine deaminase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym partial ada deficiency LEXMATCH MONDO:0007082 alopecia areata 1 skos:closeMatch ICD10CM:L63.1 Alopecia universalis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label alopecia universalis LEXMATCH MONDO:0007110 Diamond-Blackfan anemia 1 skos:closeMatch ICD10CM:D61.01 Constitutional (pure) red blood cell aplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym blackfan-diamond syndrome LEXMATCH MONDO:0007130 congenital total pulmonary venous return anomaly skos:closeMatch ICD10CM:Q26.8 Other congenital malformations of great veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome LEXMATCH @@ -142,11 +142,11 @@ MONDO:0007896 acute monocytic leukemia skos:closeMatch ICD10CM:C93.Z Other monoc MONDO:0007896 acute monocytic leukemia skos:closeMatch ICD10CM:C93.0 Acute monoblastic/monocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute monoblastic/monocytic leukemia LEXMATCH MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome skos:closeMatch ICD10CM:E71.440 Ruvalcaba-Myhre-Smith syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ruvalcaba-myhre-smith syndrome LEXMATCH MONDO:0007927 congenital macroglossia skos:closeMatch ICD10CM:Q38.2 Macroglossia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label macroglossia LEXMATCH -MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome LEXMATCH MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mandibulofacial dysostosis LEXMATCH +MONDO:0007944 Treacher Collins syndrome 1 skos:closeMatch ICD10CM:Q75.4 Mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym treacher collins syndrome LEXMATCH MONDO:0007950 mastocytosis skos:closeMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym urticaria pigmentosa LEXMATCH -MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch ICD10CM:G43.8 Other migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym migraine LEXMATCH MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch ICD10CM:G43 Migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label migraine LEXMATCH +MONDO:0008000 migraine with or without aura, susceptibility to, 1 skos:closeMatch ICD10CM:G43.8 Other migraine semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym migraine LEXMATCH MONDO:0008006 Mobius syndrome skos:closeMatch ICD10CM:Q87.0 Congenital malformation syndromes predominantly affecting facial appearance semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym moebius syndrome LEXMATCH MONDO:0008054 juvenile dermatomyositis skos:closeMatch ICD10CM:M60.8 Other myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym myositis LEXMATCH MONDO:0008054 juvenile dermatomyositis skos:closeMatch ICD10CM:M60 Myositis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myositis LEXMATCH @@ -154,11 +154,11 @@ MONDO:0008055 myotonia congenita, autosomal dominant skos:closeMatch ICD10CM:G71 MONDO:0008076 amyotrophic neuralgia skos:closeMatch ICD10CM:G54.5 Neuralgic amyotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label neuralgic amyotrophy LEXMATCH MONDO:0008090 cyclic hematopoiesis skos:closeMatch ICD10CM:D70.4 Cyclic neutropenia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cyclic neutropenia LEXMATCH MONDO:0008104 Noonan syndrome 1 skos:closeMatch ICD10CM:Q87.19 Other congenital malformation syndromes predominantly associated with short stature semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym noonan syndrome LEXMATCH -MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.033 Optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral LEXMATCH MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.03 Optic nerve hypoplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia LEXMATCH +MONDO:0008136 isolated optic nerve hypoplasia skos:closeMatch ICD10CM:H47.033 Optic nerve hypoplasia, bilateral semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label optic nerve hypoplasia, bilateral LEXMATCH MONDO:0008145 Ollier disease skos:closeMatch ICD10CM:Q78.4 Enchondromatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label enchondromatosis LEXMATCH -MONDO:0008187 panic disorder 1 skos:closeMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder LEXMATCH MONDO:0008187 panic disorder 1 skos:closeMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label panic disorder LEXMATCH +MONDO:0008187 panic disorder 1 skos:closeMatch ICD10CM:F41.0 Panic disorder [episodic paroxysmal anxiety] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym panic disorder LEXMATCH MONDO:0008218 Hailey-Hailey disease skos:closeMatch ICD10CM:Q82.8 Other specified congenital malformations of skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym benign familial pemphigus LEXMATCH MONDO:0008248 pigmented purpuric eruption skos:closeMatch ICD10CM:L81.7 Pigmented purpuric dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pigmented purpuric dermatosis LEXMATCH MONDO:0008259 familial spontaneous pneumothorax skos:closeMatch ICD10CM:J93.11 Primary spontaneous pneumothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label primary spontaneous pneumothorax LEXMATCH @@ -201,16 +201,16 @@ MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficie MONDO:0009443 autosomal recessive congenital ichthyosis 4B skos:closeMatch ICD10CM:Q80.4 Harlequin fetus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label harlequin fetus LEXMATCH MONDO:0009571 Meckel syndrome, type 1 skos:closeMatch ICD10CM:Q61.9 Cystic kidney disease, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meckel-gruber syndrome LEXMATCH MONDO:0009572 autosomal recessive familial Mediterranean fever skos:closeMatch ICD10CM:M04.1 Periodic fever syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym familial mediterranean fever LEXMATCH -MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis LEXMATCH MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch ICD10CM:E75.25 Metachromatic leukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label metachromatic leukodystrophy LEXMATCH +MONDO:0009591 metachromatic leukodystrophy, juvenile form skos:closeMatch ICD10CM:E75.29 Other sphingolipidosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym sulfatide lipidosis LEXMATCH MONDO:0009649 moyamoya disease 1 skos:closeMatch ICD10CM:I67.5 Moyamoya disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label moyamoya disorder LEXMATCH MONDO:0009653 mucolipidosis type IV skos:closeMatch ICD10CM:E75.11 Mucolipidosis IV semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mucolipidosis iv LEXMATCH MONDO:0009659 mucopolysaccharidosis type 4A skos:closeMatch ICD10CM:E76.210 Morquio A mucopolysaccharidoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis, type iva LEXMATCH MONDO:0009660 mucopolysaccharidosis type 4B skos:closeMatch ICD10CM:E76.211 Morquio B mucopolysaccharidoses semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym mucopolysaccharidosis, type ivb LEXMATCH MONDO:0009665 biotinidase deficiency skos:closeMatch ICD10CM:E53.8 Deficiency of other specified B group vitamins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym biotin deficiency LEXMATCH MONDO:0009666 holocarboxylase synthetase deficiency skos:closeMatch ICD10CM:D81.818 Other biotin-dependent carboxylase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasBroadSynonym oio:hasBroadSynonym multiple carboxylase deficiency LEXMATCH -MONDO:0009692 primary myelofibrosis skos:closeMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis LEXMATCH MONDO:0009692 primary myelofibrosis skos:closeMatch ICD10CM:D47.4 Osteomyelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myelofibrosis LEXMATCH +MONDO:0009692 primary myelofibrosis skos:closeMatch ICD10CM:D75.81 Myelofibrosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myelofibrosis LEXMATCH MONDO:0009723 Leigh syndrome skos:closeMatch ICD10CM:G31.82 Leigh's disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym subacute necrotizing encephalopathy LEXMATCH MONDO:0009763 obesity-hypoventilation syndrome skos:closeMatch ICD10CM:E66.2 Morbid (severe) obesity with alveolar hypoventilation semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pickwickian syndrome LEXMATCH MONDO:0009796 ornithine aminotransferase deficiency skos:closeMatch ICD10CM:E72.4 Disorders of ornithine metabolism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ornithinemia LEXMATCH @@ -232,8 +232,8 @@ MONDO:0010247 X-linked cerebral adrenoleukodystrophy skos:closeMatch ICD10CM:E71 MONDO:0010269 Coats disease skos:closeMatch ICD10CM:H35.07 Retinal telangiectasis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label retinal telangiectasis LEXMATCH MONDO:0010602 hemophilia A skos:closeMatch ICD10CM:D66 Hereditary factor VIII deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym classical hemophilia LEXMATCH MONDO:0010627 X-linked lymphoproliferative syndrome skos:closeMatch ICD10CM:D82.3 Immunodeficiency following hereditary defective response to Epstein-Barr virus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym x-linked lymphoproliferative disorder LEXMATCH -MONDO:0010857 semantic dementia skos:closeMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym frontotemporal dementia LEXMATCH MONDO:0010857 semantic dementia skos:closeMatch ICD10CM:G31.0 Frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label frontotemporal dementia LEXMATCH +MONDO:0010857 semantic dementia skos:closeMatch ICD10CM:G31.09 Other frontotemporal dementia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym frontotemporal dementia LEXMATCH MONDO:0011024 dermatitis herpetiformis, familial skos:closeMatch ICD10CM:L13.0 Dermatitis herpetiformis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym duhrings disorder LEXMATCH MONDO:0011057 cerebrovascular disorder skos:closeMatch ICD10CM:I63.8 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH MONDO:0011057 cerebrovascular disorder skos:closeMatch ICD10CM:I63.89 Other cerebral infarction semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasBroadSynonym cerebral infarction LEXMATCH @@ -261,8 +261,8 @@ MONDO:0015167 amniotic band syndrome skos:closeMatch ICD10CM:Q79.8 Other congeni MONDO:0015306 Lemierre syndrome skos:closeMatch ICD10CM:J02 Acute pharyngitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acute sore throat LEXMATCH MONDO:0015665 scleromyxedema skos:closeMatch ICD10CM:L98.5 Mucinosis of the skin semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym lichen myxedematosus LEXMATCH MONDO:0015674 late infantile neuronal ceroid lipofuscinosis skos:closeMatch ICD10CM:E75.4 Neuronal ceroid lipofuscinosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bielschowsky-jansky disorder LEXMATCH -MONDO:0015691 hypereosinophilic syndrome skos:closeMatch ICD10CM:D72.19 Other eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym eosinophilia LEXMATCH MONDO:0015691 hypereosinophilic syndrome skos:closeMatch ICD10CM:D72.1 Eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label eosinophilia LEXMATCH +MONDO:0015691 hypereosinophilic syndrome skos:closeMatch ICD10CM:D72.19 Other eosinophilia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym eosinophilia LEXMATCH MONDO:0015871 benign breast phyllodes tumor skos:closeMatch ICD10CM:D48.6 Neoplasm of uncertain behavior of breast semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cystosarcoma phyllodes LEXMATCH MONDO:0015898 adrenogenital syndrome skos:closeMatch ICD10CM:E25.0 Congenital adrenogenital disorders associated with enzyme deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym congenital adrenal hyperplasia LEXMATCH MONDO:0015900 hypoaldosteronism disease skos:closeMatch ICD10CM:E27.40 Unspecified adrenocortical insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hypoaldosteronism LEXMATCH @@ -282,13 +282,14 @@ MONDO:0017287 IgG4-related disease skos:closeMatch ICD10CM:M35.5 Multifocal fibr MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch ICD10CM:Q79.63 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label vascular ehlers-danlos syndrome LEXMATCH MONDO:0017314 Ehlers-Danlos syndrome, vascular type skos:closeMatch ICD10CM:Q79.63 Vascular Ehlers-Danlos syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym vascular eds LEXMATCH MONDO:0017705 congenital pulmonary venous return anomaly skos:closeMatch ICD10CM:Q26.8 Other congenital malformations of great veins semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym scimitar syndrome LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:closeMatch ICD10CM:C94.0 Acute erythroid leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym erythroleukemia LEXMATCH MONDO:0017879 hantavirus pulmonary syndrome skos:closeMatch ICD10CM:B33.4 Hantavirus (cardio)-pulmonary syndrome [HPS] [HCPS] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hantavirus LEXMATCH MONDO:0017987 syringomyelia skos:closeMatch ICD10CM:Q06.4 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia LEXMATCH MONDO:0018097 West syndrome skos:closeMatch ICD10CM:G40.82 Epileptic spasms semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym wests syndrome LEXMATCH MONDO:0018103 Quinquaud's folliculitis decalvans skos:closeMatch ICD10CM:L66.2 Folliculitis decalvans semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label folliculitis decalvans LEXMATCH +MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.3 Paratyphoid fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.2 Paratyphoid fever B semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever b LEXMATCH MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.1 Paratyphoid fever A semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever a LEXMATCH -MONDO:0018626 paratyphoid fever skos:closeMatch ICD10CM:A01.3 Paratyphoid fever C semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label paratyphoid fever c LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym abscess of thorax LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86 Pyothorax semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pyothorax LEXMATCH MONDO:0018667 pleural empyema skos:closeMatch ICD10CM:J86.9 Pyothorax without fistula semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym empyema LEXMATCH @@ -323,14 +324,14 @@ MONDO:0019530 non-syndromic syndactyly skos:closeMatch ICD10CM:Q70 Syndactyly se MONDO:0019565 hereditary von Willebrand disease skos:closeMatch ICD10CM:D68.0 Von Willebrand's disease semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label von willebrands disorder LEXMATCH MONDO:0019773 myelomeningocele skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym meningomyelocele LEXMATCH MONDO:0020316 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) skos:closeMatch ICD10CM:C92.5 Acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH -MONDO:0020338 adult pure red cell aplasia skos:closeMatch ICD10CM:D60 Acquired pure red cell aplasia [erythroblastopenia] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired pure red cell aplasia LEXMATCH MONDO:0020338 adult pure red cell aplasia skos:closeMatch ICD10CM:D60 Acquired pure red cell aplasia [erythroblastopenia] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acquired pure red cell aplasia LEXMATCH +MONDO:0020338 adult pure red cell aplasia skos:closeMatch ICD10CM:D60 Acquired pure red cell aplasia [erythroblastopenia] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acquired pure red cell aplasia LEXMATCH MONDO:0020532 spirillary rat-bite fever skos:closeMatch ICD10CM:A25.0 Spirillosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spirillosis LEXMATCH MONDO:0020533 streptobacillary rat-bite fever skos:closeMatch ICD10CM:A25.1 Streptobacillosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label streptobacillosis LEXMATCH MONDO:0020680 acute bronchiolitis skos:closeMatch ICD10CM:J21 Acute bronchiolitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute bronchiolitis LEXMATCH MONDO:0020686 acute tonsillitis skos:closeMatch ICD10CM:J03.9 Acute tonsillitis, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym infective tonsillitis LEXMATCH -MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida LEXMATCH MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym spina bifida LEXMATCH +MONDO:0020705 neural tube defects, susceptibility to skos:closeMatch ICD10CM:Q05 Spina bifida semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spina bifida LEXMATCH MONDO:0020745 ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome skos:closeMatch ICD10CM:I49.49 Other premature depolarization semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym extrasystoles LEXMATCH MONDO:0020761 Bowen disease of the skin skos:closeMatch ICD10CM:D00-D09 In situ neoplasms (D00-D09) semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym bowens disorder LEXMATCH MONDO:0020782 chronic gingivitis skos:closeMatch ICD10CM:K05.1 Chronic gingivitis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label chronic gingivitis LEXMATCH @@ -344,8 +345,8 @@ MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch ICD10CM MONDO:0020989 hereditary persistence of fetal hemoglobin skos:closeMatch ICD10CM:D56.4 Hereditary persistence of fetal hemoglobin [HPFH] semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hereditary persistence of fetal hemoglobin LEXMATCH MONDO:0021019 X-linked recessive ocular albinism skos:closeMatch ICD10CM:E70.310 X-linked ocular albinism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label x-linked ocular albinism LEXMATCH MONDO:0021113 respiratory failure skos:closeMatch ICD10CM:J96.2 Acute and chronic respiratory failure semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acute and chronic respiratory failure LEXMATCH -MONDO:0021146 headache disorder skos:closeMatch ICD10CM:G44.89 Other headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym headache syndrome LEXMATCH MONDO:0021146 headache disorder skos:closeMatch ICD10CM:G44 Other headache syndromes semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym headache syndromes LEXMATCH +MONDO:0021146 headache disorder skos:closeMatch ICD10CM:G44.89 Other headache syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasBroadSynonym headache syndrome LEXMATCH MONDO:0021259 prostate neoplasm skos:closeMatch ICD10CM:N40 Benign prostatic hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym nodular prostate LEXMATCH MONDO:0021340 intertrigo skos:closeMatch ICD10CM:L30.4 Erythema intertrigo semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythema intertrigo LEXMATCH MONDO:0021377 hypertrophic lichen planus skos:closeMatch ICD10CM:L43.0 Hypertrophic lichen planus semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypertrophic lichen planus LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv index d5535d27..b29ba4d7 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_ncit.tsv @@ -9,8 +9,8 @@ MONDO:0001409 esophagitis skos:closeMatch NCIT:C97066 Acute Esophagitis semapv:L MONDO:0001657 brain cancer skos:closeMatch NCIT:C5115 Adult Malignant Brain Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult malignant brain neoplasm LEXMATCH MONDO:0002037 pleural disorder skos:closeMatch NCIT:C27563 Non-Neoplastic Pleural Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label non-neoplastic pleural disorder LEXMATCH MONDO:0002039 cognitive disorder skos:closeMatch NCIT:C34870 Organic Mental Disorder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label organic mental disorder LEXMATCH -MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis LEXMATCH MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26978 Acute Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute lymphadenitis LEXMATCH +MONDO:0002052 lymphadenitis skos:closeMatch NCIT:C26966 Chronic Lymphadenitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic lymphadenitis LEXMATCH MONDO:0002095 vascular cancer skos:closeMatch NCIT:C5388 Renal Vein Leiomyosarcoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label renal vein leiomyosarcoma LEXMATCH MONDO:0002155 cholecystitis skos:closeMatch NCIT:C35146 Chronic Cholecystitis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic cholecystitis LEXMATCH MONDO:0002211 B cell deficiency skos:closeMatch NCIT:C27141 Immunoglobulin Heavy Chain Deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label immunoglobulin heavy chain deletion LEXMATCH @@ -46,12 +46,12 @@ MONDO:0004966 gastritis skos:closeMatch NCIT:C27013 Erosive Gastritis semapv:Lex MONDO:0004972 adenoma skos:closeMatch NCIT:C4196 Acinar Cell Adenoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acinar cell adenoma LEXMATCH MONDO:0004979 asthma skos:closeMatch NCIT:C26976 Chronic Obstructive Asthma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label chronic obstructive asthma LEXMATCH MONDO:0004985 bipolar disorder skos:closeMatch NCIT:C34805 Manic Bipolar Affective Disorder semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label manic bipolar affective disorder LEXMATCH -MONDO:0005093 skin disorder skos:closeMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label genodermatosis LEXMATCH MONDO:0005093 skin disorder skos:closeMatch NCIT:C27554 Dermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label dermatosis LEXMATCH +MONDO:0005093 skin disorder skos:closeMatch NCIT:C156032 Genodermatosis semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label genodermatosis LEXMATCH MONDO:0005240 kidney disorder skos:closeMatch NCIT:C34843 Nephropathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nephropathy LEXMATCH MONDO:0005249 pneumonia skos:closeMatch NCIT:C27197 Acute Pneumonia semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label acute pneumonia LEXMATCH -MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C27644 Deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness LEXMATCH MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C50576 Hearing Impairment semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hearing impairment LEXMATCH +MONDO:0005365 hearing loss disorder skos:closeMatch NCIT:C27644 Deafness semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label deafness LEXMATCH MONDO:0005379 neurotic disorder skos:closeMatch NCIT:C34533 Reactive Depression semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label reactive depression LEXMATCH MONDO:0005387 primary ovarian failure skos:closeMatch NCIT:C113348 Hypergonadotropic Hypogonadism semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hypergonadotropic hypogonadism LEXMATCH MONDO:0005411 gallbladder cancer skos:closeMatch NCIT:C35676 Localized Malignant Gallbladder Neoplasm semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label localized malignant gallbladder neoplasm LEXMATCH @@ -59,16 +59,16 @@ MONDO:0005412 duodenal ulcer skos:closeMatch NCIT:C35263 Stress Ulcer semapv:Lex MONDO:0005520 rickets skos:closeMatch NCIT:C131447 Nutritional Rickets semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label nutritional rickets LEXMATCH MONDO:0005550 infectious disease skos:closeMatch NCIT:C128366 Clinical Infection semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label clinical infection LEXMATCH MONDO:0005560 brain disorder skos:closeMatch NCIT:C26920 Encephalopathy semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label encephalopathy LEXMATCH -MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma LEXMATCH MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C118421 Anaplastic Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label anaplastic plasmacytoma LEXMATCH +MONDO:0005615 plasmacytoma skos:closeMatch NCIT:C6932 Solitary Plasmacytoma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label solitary plasmacytoma LEXMATCH MONDO:0005623 autoimmune thyroid disease skos:closeMatch NCIT:C38766 Lymphocytic Thyroiditis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label lymphocytic thyroiditis LEXMATCH MONDO:0005631 actinomycosis skos:closeMatch NCIT:C34349 Actinomycetoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label actinomycetoma LEXMATCH MONDO:0005647 anogenital human papillomavirus infection skos:closeMatch NCIT:C2960 Condyloma Acuminatum semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label condyloma acuminatum LEXMATCH MONDO:0005794 Herpesviridae infectious disease skos:closeMatch NCIT:C172342 Herpesvirus Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label herpesvirus infection LEXMATCH MONDO:0005799 hookworm infectious disease skos:closeMatch NCIT:C34702 Hookworm Infection semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hookworm infection LEXMATCH MONDO:0005915 pityriasis versicolor skos:closeMatch NCIT:C112833 Tinea Versicolor semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label tinea versicolor LEXMATCH -MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta LEXMATCH MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113385 Placenta Increta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta increta LEXMATCH +MONDO:0005916 placenta accreta skos:closeMatch NCIT:C113386 Placenta Percreta semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label placenta percreta LEXMATCH MONDO:0006006 verrucous carcinoma skos:closeMatch NCIT:C164248 Warty Carcinoma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label warty carcinoma LEXMATCH MONDO:0006033 diffuse intrinsic pontine glioma skos:closeMatch NCIT:C182151 Diffuse Midline Glioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse midline glioma LEXMATCH MONDO:0006055 sex cord-stromal tumor skos:closeMatch NCIT:C39948 Malignant Testicular Sex Cord-Stromal Tumor semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label malignant testicular sex cord-stromal tumor LEXMATCH @@ -202,10 +202,12 @@ MONDO:0016264 autoimmune hepatitis skos:closeMatch NCIT:C27778 Autoimmune Hepati MONDO:0016430 Balo concentric sclerosis skos:closeMatch NCIT:C84670 Diffuse Cerebral Sclerosis of Schilder semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label diffuse cerebral sclerosis of schilder LEXMATCH MONDO:0016581 conotruncal heart malformations skos:closeMatch NCIT:C98958 Interrupted Aortic Arch semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label interrupted aortic arch LEXMATCH MONDO:0016642 meningioma skos:closeMatch NCIT:C7048 Supratentorial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label supratentorial meningioma LEXMATCH -MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma LEXMATCH +MONDO:0016642 meningioma skos:closeMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label intracranial meningioma LEXMATCH MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27363 Adult Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label adult ganglioglioma LEXMATCH +MONDO:0016733 ganglioglioma skos:closeMatch NCIT:C27362 Childhood Ganglioglioma semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label childhood ganglioglioma LEXMATCH MONDO:0017079 meningoencephalocele skos:closeMatch NCIT:C124557 Encephalomeningocele semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label encephalomeningocele LEXMATCH MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C95993 Di Guglielmo Syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label di guglielmo syndrome LEXMATCH +MONDO:0017858 acute erythroid leukemia skos:closeMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label erythroleukemia LEXMATCH MONDO:0017987 syringomyelia skos:closeMatch NCIT:C123638 Hydromyelia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label hydromyelia LEXMATCH MONDO:0018044 idiopathic hypersomnia skos:closeMatch NCIT:C84781 Idiopathic Hypersomnolence semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label idiopathic hypersomnolence LEXMATCH MONDO:0018381 osteochondrosis skos:closeMatch NCIT:C34877 Osteochondritis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label osteochondritis LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv index 934af96f..6851763b 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omim.tsv @@ -1,4 +1,10 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myotubular myopathy, autosomal dominant LEXMATCH +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label myopathy, centronuclear, type 1 LEXMATCH +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym rdfs:label myopathy, centronuclear, type 1 LEXMATCH +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 LEXMATCH +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym myopathy, centronuclear, type 1 LEXMATCH +MONDO:0008048 autosomal dominant centronuclear myopathy skos:closeMatch OMIM:160150 myopathy, centronuclear, 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym myopathy, centronuclear, autosomal dominant LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni, intensity of infection by LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label schistosoma mansoni infection, susceptibility/resistance to LEXMATCH MONDO:0008412 intestinal schistosomiasis skos:closeMatch OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym schistosoma mansoni infection, susceptibility/resistance to LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index 754675a8..1df56d07 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -7,3 +7,4 @@ MONDO:0016761 spondyloepiphyseal dysplasia skos:closeMatch Orphanet:253 Spondylo MONDO:0017576 46,XX disorder of sex development skos:closeMatch Orphanet:325697 Genetic 46,XX disorder of sex development semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c2936403 LEXMATCH MONDO:0018944 gestational trophoblastic neoplasm skos:closeMatch Orphanet:254685 Gestational trophoblastic disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c1135868 LEXMATCH MONDO:0032526 spinocerebellar ataxia 48 skos:closeMatch Orphanet:631103 Spinocerebellar ataxia type 48 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label spinocerebellar ataxia type 48 LEXMATCH +MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:closeMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619859 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 7b23f88a..d9461700 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -1,5 +1,4 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000023 infantile liver failure skos:exactMatch DOID:0080716 infantile liver failure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome LEXMATCH MONDO:0000275 obsolete monogenic disease skos:exactMatch DOID:0050177 monogenic disease semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000348 obsolete posterior polar cataract skos:exactMatch DOID:0050537 posterior polar cataract semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000373 gall bladder carcinoma in situ skos:exactMatch DOID:0050612 gallbladder carcinoma in situ semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -22,9 +21,10 @@ MONDO:0001679 obsolete crater-like holes of optic disc skos:exactMatch DOID:1329 MONDO:0001872 obsolete vestibular nystagmus skos:exactMatch DOID:14070 vestibular nystagmus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002324 obsolete enamel erosion skos:exactMatch DOID:2497 enamel erosion semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002336 obsolete inflammatory and toxic neuropathy skos:exactMatch DOID:2537 inflammatory and toxic neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002413 glycogen storage disease I skos:exactMatch DOID:0081329 glycogen storage disease I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disorder i LEXMATCH MONDO:0002488 intraductal breast neoplasm skos:exactMatch DOID:3013 intraductal breast benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:3117 hepatobiliary benign neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatobiliary tumors LEXMATCH MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:0080355 hepatobiliary system cancer semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0002514 hepatobiliary neoplasm skos:exactMatch DOID:3117 hepatobiliary benign neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatobiliary tumors LEXMATCH MONDO:0002891 obsolete gastrointestinal neuroendocrine benign tumor skos:exactMatch DOID:4148 gastrointestinal neuroendocrine benign tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003043 obsolete extraskeletal mesenchymal chondrosarcoma skos:exactMatch DOID:4548 extraskeletal mesenchymal chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0003192 rete ovarii neoplasm skos:exactMatch DOID:4895 rete ovarii benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -36,437 +36,38 @@ MONDO:0004268 obsolete subareolar duct papillomatosis skos:exactMatch DOID:7533 MONDO:0004391 obsolete adult extraosseous chondrosarcoma skos:exactMatch DOID:7902 adult extraskeletal myxoid chondrosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004792 cancer of isthmus of fallopian tube skos:exactMatch DOID:9459 isthmus cancer semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 sensory system disease semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0005161 human papilloma virus infection skos:exactMatch DOID:11166 Human papillomavirus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label human papillomavirus infectious disorder LEXMATCH -MONDO:0005224 acute myeloblastic leukemia without maturation skos:exactMatch DOID:0081086 acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia without maturation LEXMATCH MONDO:0005525 T-cell leukemia skos:exactMatch DOID:715 obsolete T-cell lymphoblastic leukemia/lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006033 diffuse intrinsic pontine glioma skos:exactMatch DOID:0080684 diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma LEXMATCH -MONDO:0006372 pituicytoma skos:exactMatch DOID:0081280 pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma LEXMATCH MONDO:0006515 acute pancreatitis skos:exactMatch DOID:0080998 acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute necrotizing pancreatitis LEXMATCH -MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym overactive bladder LEXMATCH -MONDO:0006624 overactive bladder skos:exactMatch DOID:0070355 overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder LEXMATCH MONDO:0006674 obsolete benign fibrous mesothelioma skos:exactMatch DOID:2653 benign fibrous mesothelioma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006728 obsolete discitis skos:exactMatch DOID:10986 discitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant palmoplantar hyperkeratosis and congenital alopecia LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type LEXMATCH -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia skos:exactMatch DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 LEXMATCH -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex skos:exactMatch DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 LEXMATCH -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome skos:exactMatch DOID:0111609 distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome LEXMATCH -MONDO:0007160 Stickler syndrome type 1 skos:exactMatch DOID:0080676 Stickler syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome LEXMATCH -MONDO:0007252 Gordon syndrome skos:exactMatch DOID:0111607 distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome LEXMATCH -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome skos:exactMatch DOID:0080723 Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 2 LEXMATCH -MONDO:0007538 amelogenesis imperfecta, type 3A skos:exactMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta type 3 LEXMATCH -MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny LEXMATCH -MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny LEXMATCH -MONDO:0007636 frontorhiny skos:exactMatch DOID:0081045 frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 1 LEXMATCH -MONDO:0007648 hereditary diffuse gastric adenocarcinoma skos:exactMatch DOID:0080764 hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency LEXMATCH -MONDO:0007762 hyperlipoproteinemia type V skos:exactMatch DOID:0111421 familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym milroy disorder LEXMATCH -MONDO:0007919 lymphatic malformation 1 skos:exactMatch DOID:0070212 hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema LEXMATCH -MONDO:0008048 autosomal dominant centronuclear myopathy skos:exactMatch DOID:0111223 centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 1 LEXMATCH -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A skos:exactMatch DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1a LEXMATCH -MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spondyloepiphyseal dysplasia tarda LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with severe genu valgum LEXMATCH -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type skos:exactMatch DOID:0112296 spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type LEXMATCH -MONDO:0008519 multiple synostoses syndrome 1 skos:exactMatch DOID:0081317 multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 1 LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 2a LEXMATCH -MONDO:0008675 Freeman-Sheldon syndrome skos:exactMatch DOID:0111605 distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 2a LEXMATCH -MONDO:0008676 white sponge nevus 1 skos:exactMatch DOID:0081287 white sponge nevus 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 1 LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency LEXMATCH -MONDO:0008759 oxoglutaricaciduria skos:exactMatch DOID:0081326 oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency LEXMATCH -MONDO:0008803 Antley-Bixler syndrome skos:exactMatch DOID:0081289 Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome LEXMATCH -MONDO:0008926 COFS syndrome skos:exactMatch DOID:0080910 cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome LEXMATCH -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive skos:exactMatch DOID:0080802 autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive craniometaphyseal dysplasia LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome LEXMATCH -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome skos:exactMatch DOID:0112250 Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c LEXMATCH -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria skos:exactMatch DOID:0112252 glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutathione synthetase deficiency without type 5-oxoprolinuria LEXMATCH -MONDO:0009305 granulocytopenia with immunoglobulin abnormality skos:exactMatch DOID:0111974 immunodeficiency 59 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 59 and hypoglycemia LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency with skin granulomas LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag type 1/2 deficiency LEXMATCH -MONDO:0009306 combined immunodeficiency with skin granulomas skos:exactMatch DOID:0112253 combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag type 1/2 deficiency LEXMATCH -MONDO:0009329 pulmonary venoocclusive disease 2 skos:exactMatch DOID:0081269 pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 2 LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency LEXMATCH -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency skos:exactMatch DOID:0112258 N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nags deficiency LEXMATCH -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy skos:exactMatch DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoinsulinemic hypoglycemia and body hemihypertrophy LEXMATCH -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome skos:exactMatch DOID:0080722 Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 1 LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome LEXMATCH -MONDO:0009699 action myoclonus-renal failure syndrome skos:exactMatch DOID:0111444 progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome LEXMATCH -MONDO:0009779 autosomal recessive omodysplasia skos:exactMatch DOID:0080844 omodysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omodysplasia type 1 LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency LEXMATCH -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency skos:exactMatch DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH -MONDO:0009926 autosomal recessive multiple pterygium syndrome skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive multiple pterygium syndrome LEXMATCH -MONDO:0009953 leukocyte adhesion deficiency type II skos:exactMatch DOID:0080492 leukocyte adhesion deficiency 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 2 LEXMATCH +MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081330 glycogen storage disease Ib semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disorder ib LEXMATCH +MONDO:0009288 glycogen storage disease Ib skos:exactMatch DOID:0081331 glycogen storage disease Ic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder ic LEXMATCH +MONDO:0009910 Wiedemann-Rautenstrauch syndrome skos:exactMatch DOID:0081333 Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-rautenstrauch syndrome LEXMATCH MONDO:0009959 peroxisome biogenesis disorder type 3B skos:exactMatch DOID:0081241 peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to zap70 deficiency LEXMATCH -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency skos:exactMatch DOID:0111943 immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency LEXMATCH -MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive skos:exactMatch DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spondyloepiphyseal dysplasia tarda LEXMATCH -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome skos:exactMatch DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome LEXMATCH -MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency LEXMATCH -MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria LEXMATCH -MONDO:0010167 urocanic aciduria skos:exactMatch DOID:0112180 urocanase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urocanic aciduria LEXMATCH -MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0111798 X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome LEXMATCH -MONDO:0010261 microphthalmia, syndromic 2 skos:exactMatch DOID:0111809 syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia LEXMATCH -MONDO:0010268 X-linked lissencephaly with abnormal genitalia skos:exactMatch DOID:0112238 X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency LEXMATCH -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency skos:exactMatch DOID:0112127 HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome LEXMATCH -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss skos:exactMatch DOID:0111741 X-linked deafness 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 LEXMATCH -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency skos:exactMatch DOID:0112000 immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency skos:exactMatch DOID:0111933 phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe neonatal-onset encephalopathy with microcephaly LEXMATCH -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly skos:exactMatch DOID:0111932 severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia LEXMATCH -MONDO:0010404 X-linked non progressive cerebellar ataxia skos:exactMatch DOID:0111833 X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 LEXMATCH -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome skos:exactMatch DOID:0111811 syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome LEXMATCH -MONDO:0010490 SSR4-congenital disorder of glycosylation skos:exactMatch DOID:0080574 congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y LEXMATCH -MONDO:0010506 intellectual disability, X-linked 61 skos:exactMatch DOID:0112042 Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonne-kalscheuer syndrome LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to moesin deficiency LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 LEXMATCH -MONDO:0010514 combined immunodeficiency due to moesin deficiency skos:exactMatch DOID:0112001 immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency LEXMATCH -MONDO:0010529 X-linked spinocerebellar ataxia type 3 skos:exactMatch DOID:0111831 X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 LEXMATCH -MONDO:0010534 X-linked spinocerebellar ataxia type 4 skos:exactMatch DOID:0111832 X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 LEXMATCH -MONDO:0010547 X-linked progressive cerebellar ataxia skos:exactMatch DOID:0111829 X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked progressive cerebellar ataxia LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss LEXMATCH -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher skos:exactMatch DOID:0111737 X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked LEXMATCH -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia skos:exactMatch DOID:0111664 ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx1 LEXMATCH -MONDO:0010656 intellectual disability, X-linked 1 skos:exactMatch DOID:0112038 non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH -MONDO:0010706 premature ovarian failure 1 skos:exactMatch DOID:0080857 primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 LEXMATCH -MONDO:0010732 spastic paraparesis-deafness syndrome skos:exactMatch DOID:0081100 spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraparesis-deafness syndrome LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 LEXMATCH -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 skos:exactMatch DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association LEXMATCH -MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h syndrome LEXMATCH -MONDO:0011273 H syndrome skos:exactMatch DOID:0111278 histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome LEXMATCH -MONDO:0011327 neuronal intranuclear inclusion disease skos:exactMatch DOID:0081294 neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disorder LEXMATCH -MONDO:0011381 dominant beta-thalassemia skos:exactMatch DOID:0080770 autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body beta-thalassemia LEXMATCH -MONDO:0011493 Stickler syndrome type 2 skos:exactMatch DOID:0080675 Stickler syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 LEXMATCH -MONDO:0011577 myopathy, proximal, and ophthalmoplegia skos:exactMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myopathy and ophthalmoplegia LEXMATCH -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis skos:exactMatch DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 15 with mandibulofacial dysostosis LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interleukin-2 receptor alpha chain deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH -MONDO:0011664 immunodeficiency due to CD25 deficiency skos:exactMatch DOID:0111968 immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency LEXMATCH -MONDO:0011814 Smith-McCort dysplasia 1 skos:exactMatch DOID:0081270 Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 1 LEXMATCH -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome skos:exactMatch DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome LEXMATCH -MONDO:0011904 seizures, benign familial infantile, 3 skos:exactMatch DOID:0081116 benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal-infantile seizures LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with brain and digit anomalies LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia with brain and digit anomalies LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 LEXMATCH -MONDO:0011936 microphthalmia with brain and digit anomalies skos:exactMatch DOID:0111805 syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 LEXMATCH -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH -MONDO:0012018 myopathy, myosin storage, autosomal dominant skos:exactMatch DOID:0111269 autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome LEXMATCH -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome skos:exactMatch DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome LEXMATCH -MONDO:0012195 arthrogryposis-severe scoliosis syndrome skos:exactMatch DOID:0111610 distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 LEXMATCH -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 skos:exactMatch DOID:0112318 Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder LEXMATCH -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 skos:exactMatch DOID:0112319 Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency LEXMATCH -MONDO:0012351 zygodactyly type 1 skos:exactMatch DOID:0111820 zygodactyly 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency LEXMATCH -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency skos:exactMatch DOID:0111967 immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency LEXMATCH -MONDO:0012394 multiple synostoses syndrome 2 skos:exactMatch DOID:0081318 multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 2 LEXMATCH -MONDO:0012410 Finnish upper limb-onset distal myopathy skos:exactMatch DOID:0111189 distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 3 LEXMATCH -MONDO:0012413 syndromic microphthalmia type 5 skos:exactMatch DOID:0111806 syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile agranulocytosis LEXMATCH -MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 LEXMATCH -MONDO:0012548 Kostmann syndrome skos:exactMatch DOID:0112133 severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kostmann syndrome LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency LEXMATCH -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency skos:exactMatch DOID:0112072 nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 LEXMATCH -MONDO:0012638 microphthalmia-brain atrophy syndrome skos:exactMatch DOID:0111812 syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type LEXMATCH -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type skos:exactMatch DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds LEXMATCH -MONDO:0012883 acute promyelocytic leukemia skos:exactMatch DOID:0081081 acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute promyelocytic leukemia with pml-rara LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 4 LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency LEXMATCH -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency skos:exactMatch DOID:0112136 severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 9 LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency LEXMATCH -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency skos:exactMatch DOID:0111976 immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency LEXMATCH -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency skos:exactMatch DOID:0111970 immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency LEXMATCH -MONDO:0013058 cystic leukoencephalopathy without megalencephaly skos:exactMatch DOID:0081007 RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystic leukoencephalopathy without megalencephaly LEXMATCH -MONDO:0013064 multiple synostoses syndrome 3 skos:exactMatch DOID:0081319 multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 3 LEXMATCH -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins skos:exactMatch DOID:0080778 transient infantile liver failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient infantile liver failure LEXMATCH -MONDO:0013209 non-alcoholic fatty liver disease skos:exactMatch DOID:0080546 non-alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-alcoholic fatty liver LEXMATCH -MONDO:0013229 hot water reflex epilepsy skos:exactMatch DOID:0081104 hot water epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hot water epilepsy LEXMATCH -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly skos:exactMatch DOID:0081046 frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 2 LEXMATCH -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome skos:exactMatch DOID:0081047 frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 3 LEXMATCH -MONDO:0013505 spermatogenic failure 9 skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 9 LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with posterior leg and anterior hand involvement LEXMATCH -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement skos:exactMatch DOID:0111190 distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy LEXMATCH -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type skos:exactMatch DOID:0112224 chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpapp deficiency LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder LEXMATCH -MONDO:0013730 graft versus host disease skos:exactMatch DOID:0081267 graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder LEXMATCH -MONDO:0013751 cutis laxa, autosomal dominant 2 skos:exactMatch DOID:0070136 autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant cutis laxa type 2 LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 LEXMATCH -MONDO:0013773 porencephaly 2 skos:exactMatch DOID:0112314 brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 LEXMATCH -MONDO:0013885 Malan overgrowth syndrome skos:exactMatch DOID:0112102 Sotos syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome type 2 LEXMATCH -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores skos:exactMatch DOID:0111224 centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 4 LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym young adult-onset distal hereditary motor neuropathy LEXMATCH -MONDO:0013947 young adult-onset distal hereditary motor neuropathy skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency LEXMATCH -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency skos:exactMatch DOID:0111990 immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency LEXMATCH -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency skos:exactMatch DOID:0111986 immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency LEXMATCH -MONDO:0013967 peroxisome biogenesis disorder 14B skos:exactMatch DOID:0081274 peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 14b LEXMATCH -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement skos:exactMatch DOID:0112230 lissencephaly 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 5 LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to card11 deficiency LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 11a LEXMATCH -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency skos:exactMatch DOID:0111957 immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to card11 deficiency LEXMATCH -MONDO:0014087 Smith-McCort dysplasia 2 skos:exactMatch DOID:0081271 Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 2 LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps45 deficiency LEXMATCH -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome skos:exactMatch DOID:0112132 severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital neutropenia-myelofibrosis-nephromegaly syndrome LEXMATCH -MONDO:0014119 intellectual disability-strabismus syndrome skos:exactMatch DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies LEXMATCH -MONDO:0014150 developmental and epileptic encephalopathy 94 skos:exactMatch DOID:0081325 developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 94 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 12 LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency LEXMATCH -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency skos:exactMatch DOID:0111988 immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency LEXMATCH -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome skos:exactMatch DOID:0112344 hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome LEXMATCH -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome skos:exactMatch DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alacrima, achalasia, and mental retardation syndrome LEXMATCH -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency skos:exactMatch DOID:0111959 immunodeficiency 15B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 15b LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency LEXMATCH -MONDO:0014268 combined immunodeficiency due to OX40 deficiency skos:exactMatch DOID:0111935 immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 LEXMATCH -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency skos:exactMatch DOID:0060018 CD3gamma deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cd3gamma deficiency LEXMATCH +MONDO:0013523 Nestor-Guillermo progeria syndrome skos:exactMatch DOID:0081334 Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nestor-guillermo progeria syndrome LEXMATCH MONDO:0014278 immunodeficiency 18 skos:exactMatch DOID:0060017 CD3epsilon deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 22 LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lymphocyte-specific protein tyrosine kinase deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency LEXMATCH -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency skos:exactMatch DOID:0111937 immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency LEXMATCH -MONDO:0014346 white sponge nevus 2 skos:exactMatch DOID:0081288 white sponge nevus 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 2 LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency LEXMATCH -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency skos:exactMatch DOID:0111938 immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency LEXMATCH -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency skos:exactMatch DOID:0111961 immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency LEXMATCH -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency skos:exactMatch DOID:0112134 severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to jagn1 deficiency LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy due to pomk deficiency LEXMATCH -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency skos:exactMatch DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome LEXMATCH -MONDO:0014507 Catel-Manzke syndrome skos:exactMatch DOID:0081122 Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome LEXMATCH -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma skos:exactMatch DOID:0111708 focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated focal non-epidermolytic palmoplantar keratoderma LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copa syndrome LEXMATCH -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome skos:exactMatch DOID:0081242 autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune interstitial lung disorder-arthritis syndrome LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 LEXMATCH -MONDO:0014637 DOCK2 deficiency skos:exactMatch DOID:0111951 immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 LEXMATCH -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency skos:exactMatch DOID:0111940 immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency LEXMATCH -MONDO:0014760 TFRC-related combined immunodeficiency skos:exactMatch DOID:0111948 immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency LEXMATCH -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency skos:exactMatch DOID:0112129 severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to csf3r deficiency LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 skos:exactMatch DOID:0080960 amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 LEXMATCH -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 skos:exactMatch DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2z LEXMATCH -MONDO:0015008 amelogenesis imperfecta, type 1J skos:exactMatch DOID:0080953 amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, type ij LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism LEXMATCH -MONDO:0015240 digitotalar dysmorphism skos:exactMatch DOID:0111596 distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 LEXMATCH -MONDO:0015408 diffuse lymphatic malformation skos:exactMatch DOID:0081031 generalized lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized lymphatic anomaly LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome LEXMATCH -MONDO:0015601 X-linked intellectual disability, van Esch type skos:exactMatch DOID:0111840 Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to round-headed spermatozoa LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to globozoospermia LEXMATCH -MONDO:0015746 male infertility due to globozoospermia skos:exactMatch DOID:0111156 spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym male infertility due to globozoospermia LEXMATCH -MONDO:0015760 T-cell non-Hodgkin lymphoma skos:exactMatch DOID:0081312 T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma LEXMATCH -MONDO:0016642 meningioma skos:exactMatch DOID:0080842 intracranial meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma LEXMATCH +MONDO:0015333 progeroid syndrome skos:exactMatch DOID:0081332 progeroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid syndrome LEXMATCH MONDO:0016715 ependymoblastoma skos:exactMatch DOID:0081286 embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH -MONDO:0016727 extraventricular neurocytoma skos:exactMatch DOID:0081314 extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma LEXMATCH -MONDO:0016735 papillary glioneuronal tumor skos:exactMatch DOID:0081283 papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor LEXMATCH -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule skos:exactMatch DOID:0081284 rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome LEXMATCH -MONDO:0017138 Opitz G/BBB syndrome skos:exactMatch DOID:0080697 Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome LEXMATCH -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system skos:exactMatch DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary diffuse large b-cell lymphoma of the central nervous system LEXMATCH -MONDO:0017607 caudal regression sequence skos:exactMatch DOID:0080700 caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017858 acute erythroid leukemia skos:exactMatch DOID:0080916 erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia LEXMATCH -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations skos:exactMatch DOID:0081095 acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with mutated cebpa LEXMATCH MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) skos:exactMatch DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with t(6;9)(p23;q34) LEXMATCH -MONDO:0018589 AApoAIV amyloidosis skos:exactMatch DOID:0080927 apolipoprotein A-IV associated amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aapoaiv amyloidosis LEXMATCH -MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis LEXMATCH -MONDO:0018613 AH amyloidosis skos:exactMatch DOID:0080934 immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis LEXMATCH MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability skos:exactMatch DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability LEXMATCH -MONDO:0018865 striate palmoplantar keratoderma skos:exactMatch DOID:0081105 keratosis palmoplantaris striata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratosis palmoplantaris striata LEXMATCH -MONDO:0018871 acute myelomonocytic leukemia M4 skos:exactMatch DOID:0081082 acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome LEXMATCH -MONDO:0018945 McLeod neuroacanthocytosis syndrome skos:exactMatch DOID:0112107 McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder LEXMATCH -MONDO:0018948 multiminicore myopathy skos:exactMatch DOID:0080991 multiminicore disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiminicore disorder LEXMATCH -MONDO:0019091 bronchopulmonary dysplasia skos:exactMatch DOID:11650 bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia LEXMATCH -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome skos:exactMatch DOID:0080719 proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body myopathy type 3 LEXMATCH -MONDO:0019438 AL amyloidosis skos:exactMatch DOID:0080933 immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis LEXMATCH -MONDO:0019466 lymphomatoid granulomatosis skos:exactMatch DOID:0081307 lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a LEXMATCH -MONDO:0019569 Cockayne syndrome type 1 skos:exactMatch DOID:0080907 Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 2 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 LEXMATCH -MONDO:0019570 Cockayne syndrome type 2 skos:exactMatch DOID:0080908 Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b LEXMATCH MONDO:0019976 dementia pugilistica skos:exactMatch DOID:0081291 chronic traumatic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic traumatic encephalopathy LEXMATCH -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy skos:exactMatch DOID:0081119 benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant nocturnal frontal lobe epilepsy LEXMATCH -MONDO:0020320 acute myeloblastic leukemia with maturation skos:exactMatch DOID:0081087 acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with maturation LEXMATCH -MONDO:0020324 intravascular large B-cell lymphoma skos:exactMatch DOID:0081311 intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma LEXMATCH -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 skos:exactMatch DOID:0112275 developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 93 LEXMATCH -MONDO:0020713 pulmonary venoocclusive disease 1 skos:exactMatch DOID:0081268 pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 1 LEXMATCH -MONDO:0020716 familial thyroid dyshormonogenesis 1 skos:exactMatch DOID:0112185 thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid dyshormonogenesis type 1 LEXMATCH -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B skos:exactMatch DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1b LEXMATCH -MONDO:0020791 corneal dystrophy, Meesmann, 1 skos:exactMatch DOID:0080670 Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 1 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:exactMatch DOID:0081297 oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 1 LEXMATCH -MONDO:0021009 salivary gland mucoepidermoid carcinoma skos:exactMatch DOID:0081293 salivary gland mucoepidermoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucoepidermoid carcinoma LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021657 ovarian sex cord-stromal tumor skos:exactMatch DOID:0080369 ovarian sex-cord stromal tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0023671 oculopharyngodistal myopathy 3 skos:exactMatch DOID:0081299 oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 3 LEXMATCH MONDO:0024286 benign blood vessel neoplasm skos:exactMatch DOID:60006 benign vascular tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024387 benign ovarian sex cord-stromal tumor skos:exactMatch DOID:0080370 ovarian sex cord-stromal benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0025193 oculopharyngodistal myopathy skos:exactMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to carmil2 deficiency LEXMATCH -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency skos:exactMatch DOID:0111984 immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 58 LEXMATCH -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 skos:exactMatch DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type c, type 8 LEXMATCH -MONDO:0029138 developmental and epileptic encephalopathy, 67 skos:exactMatch DOID:0112203 developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 67 LEXMATCH -MONDO:0030009 alopecia-intellectual disability syndrome 4 skos:exactMatch DOID:0080950 alopecia-mental retardation syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alopecia-mental retardation syndrome type 4 LEXMATCH -MONDO:0030054 developmental and epileptic encephalopathy, 86 skos:exactMatch DOID:0112220 developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 86 LEXMATCH -MONDO:0030059 developmental and epileptic encephalopathy, 87 skos:exactMatch DOID:0112221 developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 87 LEXMATCH -MONDO:0030072 developmental and epileptic encephalopathy, 88 skos:exactMatch DOID:0112222 developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 88 LEXMATCH -MONDO:0030134 oculopharyngodistal myopathy 2 skos:exactMatch DOID:0081298 oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 2 LEXMATCH -MONDO:0030712 oculopharyngodistal myopathy 4 skos:exactMatch DOID:0081300 oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 4 LEXMATCH -MONDO:0030861 osteogenesis imperfecta, type 21 skos:exactMatch DOID:0112201 osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenesis imperfecta type 21 LEXMATCH -MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH -MONDO:0030939 premature ovarian failure 18 skos:exactMatch DOID:0112269 primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 LEXMATCH -MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH -MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 LEXMATCH -MONDO:0030985 premature ovarian failure 19 skos:exactMatch DOID:0112278 primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 LEXMATCH -MONDO:0031043 lymphatic malformation 12 skos:exactMatch DOID:0081030 central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central conducting lymphatic anomaly LEXMATCH -MONDO:0031421 Olmsted syndrome skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome LEXMATCH -MONDO:0032598 developmental and epileptic encephalopathy, 68 skos:exactMatch DOID:0112204 developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 68 LEXMATCH -MONDO:0032643 pontocerebellar hypoplasia, type 12 skos:exactMatch DOID:0112327 pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia LEXMATCH -MONDO:0032657 developmental and epileptic encephalopathy, 69 skos:exactMatch DOID:0112205 developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 69 LEXMATCH -MONDO:0032663 developmental and epileptic encephalopathy, 70 skos:exactMatch DOID:0112206 developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 70 LEXMATCH -MONDO:0032678 developmental and epileptic encephalopathy, 71 skos:exactMatch DOID:0112207 developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 71 LEXMATCH -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature skos:exactMatch DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature LEXMATCH -MONDO:0032710 developmental and epileptic encephalopathy, 72 skos:exactMatch DOID:0112208 developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 72 LEXMATCH -MONDO:0032725 developmental and epileptic encephalopathy, 74 skos:exactMatch DOID:0112210 developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 74 LEXMATCH -MONDO:0032752 developmental and epileptic encephalopathy, 75 skos:exactMatch DOID:0112211 developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 75 LEXMATCH -MONDO:0032768 developmental and epileptic encephalopathy, 76 skos:exactMatch DOID:0112212 developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 LEXMATCH -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity skos:exactMatch DOID:0111997 immunodeficiency 63 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity LEXMATCH -MONDO:0032812 developmental and epileptic encephalopathy, 78 skos:exactMatch DOID:0112214 developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 78 LEXMATCH -MONDO:0032813 developmental and epileptic encephalopathy, 79 skos:exactMatch DOID:0112215 developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 79 LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resistance to thyrotropin-releasing hormone syndrome LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome LEXMATCH -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 skos:exactMatch DOID:0111836 congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency LEXMATCH -MONDO:0032822 developmental and epileptic encephalopathy, 80 skos:exactMatch DOID:0112216 developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 80 LEXMATCH -MONDO:0032842 Siddiqi syndrome skos:exactMatch DOID:0081273 Siddiqi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siddiqi syndrome LEXMATCH -MONDO:0032858 developmental and epileptic encephalopathy, 81 skos:exactMatch DOID:0112217 developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 81 LEXMATCH -MONDO:0032880 developmental and epileptic encephalopathy, 82 skos:exactMatch DOID:0080715 developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 82 LEXMATCH -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures skos:exactMatch DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures LEXMATCH -MONDO:0032895 developmental and epileptic encephalopathy, 83 skos:exactMatch DOID:0112218 developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 83 LEXMATCH -MONDO:0032904 corneal dystrophy, Meesmann, 2 skos:exactMatch DOID:0080671 Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 2 LEXMATCH -MONDO:0032918 developmental and epileptic encephalopathy, 84 skos:exactMatch DOID:0112219 developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 84 LEXMATCH -MONDO:0032926 sandestig-stefanova syndrome skos:exactMatch DOID:0081272 Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandestig-stefanova syndrome LEXMATCH -MONDO:0033551 immunodeficiency 72 with autoinflammation skos:exactMatch DOID:0112015 immunodeficiency 72 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 72 with autoinflammation LEXMATCH -MONDO:0034106 developmental and epileptic encephalopathy, 73 skos:exactMatch DOID:0112209 developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 73 LEXMATCH +MONDO:0030781 restrictive dermopathy 2 skos:exactMatch DOID:0070370 restrictive dermopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy type 2 LEXMATCH MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) skos:exactMatch DOID:0080643 B-lymphoblastic leukemia/lymphoma with BCR-ABL1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH MONDO:0044212 chronic idiopathic urticaria skos:exactMatch DOID:0080749 chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria LEXMATCH -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency skos:exactMatch DOID:0111993 immunodeficiency 55 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to gins1 deficiency LEXMATCH -MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 5, multiple types LEXMATCH -MONDO:0054601 pituitary adenoma 5, multiple types skos:exactMatch DOID:0112008 pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 5, multiple types LEXMATCH -MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH -MONDO:0054665 pituitary adenoma 3, multiple types skos:exactMatch DOID:0112010 pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types LEXMATCH -MONDO:0054752 multiple synostoses syndrome 4 skos:exactMatch DOID:0081320 multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 4 LEXMATCH MONDO:0056804 benign neoplasm of peripheral nervous system skos:exactMatch DOID:0080320 peripheral nervous system benign neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder LEXMATCH -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease skos:exactMatch DOID:0112004 immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 71 with inflammatory disorder and congenital thrombocytopenia LEXMATCH -MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities skos:exactMatch DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities LEXMATCH -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures skos:exactMatch DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques LEXMATCH -MONDO:0100296 Olmsted syndrome 1 skos:exactMatch DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 skos:exactMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v LEXMATCH +MONDO:0800042 restrictive dermopathy 1 skos:exactMatch DOID:0070369 restrictive dermopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy type 1 LEXMATCH +MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies skos:exactMatch DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies LEXMATCH +MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss skos:exactMatch DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss LEXMATCH +MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features skos:exactMatch DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with ocular anomalies and distinctive facial features LEXMATCH +MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia skos:exactMatch DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with eye movement abnormalities and ataxia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index ab786edd..bcbe08d6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -54,8 +54,8 @@ MONDO:0000650 peritoneal benign neoplasm skos:exactMatch NCIT:C8612 Benign Perit MONDO:0000651 obsolete thoracic disorder skos:exactMatch NCIT:C35742 Thoracic Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000654 benign connective and soft tissue neoplasm skos:exactMatch NCIT:C53684 Benign Connective and Soft Tissue Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000685 visual agnosia skos:exactMatch NCIT:C35276 Visual Agnosia semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C180523 Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection LEXMATCH MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C35286 Clostridium difficile Colitis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0000705 Clostridium difficile colitis skos:exactMatch NCIT:C180523 Clostridium difficile Infection semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label clostridium difficile infection LEXMATCH MONDO:0000709 Crohn ileitis skos:exactMatch NCIT:C35329 Crohn Ileitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000723 stutter disorder skos:exactMatch NCIT:C35043 Stutter semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0000743 oral hairy leukoplakia skos:exactMatch NCIT:C3722 Oral Cavity Hairy Leukoplakia semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -153,8 +153,8 @@ MONDO:0001536 vaginal leiomyoma skos:exactMatch NCIT:C6373 Vaginal Leiomyoma sem MONDO:0001540 bagassosis skos:exactMatch NCIT:C34409 Bagassosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001558 Potter sequence skos:exactMatch NCIT:C40435 Potter Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001577 respiratory syncytial virus infectious disease skos:exactMatch NCIT:C3354 Respiratory Syncytial Virus Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm LEXMATCH MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C3567 Malignant Nasolacrimal Duct Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0001580 lacrimal duct cancer skos:exactMatch NCIT:C175319 Malignant Lacrimal Drainage System Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant lacrimal drainage system neoplasm LEXMATCH MONDO:0001621 tick-borne relapsing fever skos:exactMatch NCIT:C34976 Tick-Borne Relapsing Fever semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001635 bladder squamous papilloma skos:exactMatch NCIT:C39834 Bladder Squamous Cell Papilloma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0001644 acute proliferative glomerulonephritis skos:exactMatch NCIT:C35443 Post-Streptococcal Glomerulonephritis semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -220,8 +220,8 @@ MONDO:0002083 Richter syndrome skos:exactMatch NCIT:C35424 Richter Syndrome sema MONDO:0002087 peritoneum cancer skos:exactMatch NCIT:C3538 Malignant Peritoneal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002090 eccrine sweat gland neoplasm skos:exactMatch NCIT:C6796 Eccrine Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002092 small intestine leiomyoma skos:exactMatch NCIT:C7725 Small Intestinal Leiomyoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002095 vascular cancer skos:exactMatch NCIT:C8538 Malignant Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002095 vascular cancer skos:exactMatch NCIT:C7390 Malignant Vascular Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular neoplasm LEXMATCH +MONDO:0002095 vascular cancer skos:exactMatch NCIT:C8538 Malignant Blood Vessel Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002100 cardiovascular cancer skos:exactMatch NCIT:C114940 Malignant Cardiovascular Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002108 thyroid cancer skos:exactMatch NCIT:C7510 Malignant Thyroid Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002109 pituitary cancer skos:exactMatch NCIT:C4769 Malignant Pituitary Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -311,7 +311,6 @@ MONDO:0002434 oculomotor nerve cancer skos:exactMatch NCIT:C6995 Malignant Oculo MONDO:0002435 oculomotor nerve neoplasm skos:exactMatch NCIT:C6994 Oculomotor Nerve Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002440 erythropoietin polycythemia skos:exactMatch NCIT:C35434 Polycythaemia due to Excess Erythropoetin Production semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002441 Jervell and Lange-Nielsen syndrome skos:exactMatch NCIT:C84793 Jervell and Lange Nielsen Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0002444 melancholia skos:exactMatch NCIT:C34812 Melancholic Depression semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002448 laryngeal sarcoma skos:exactMatch NCIT:C6020 Laryngeal Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002459 type IV hypersensitivity disease skos:exactMatch NCIT:C3115 Type IV Hypersensitivity semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002464 lacrimal gland cancer skos:exactMatch NCIT:C3563 Malignant Lacrimal Gland Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -422,8 +421,8 @@ MONDO:0002865 anus sarcoma skos:exactMatch NCIT:C5611 Anal Sarcoma semapv:Unspec MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma skos:exactMatch NCIT:C4130 Bile Duct Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002869 heart valve disorder skos:exactMatch NCIT:C45525 Valvular Heart Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002870 tricuspid valve insufficiency skos:exactMatch NCIT:C50843 Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation LEXMATCH -MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C36097 Cervical Carcinosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C40226 Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm LEXMATCH +MONDO:0002877 cervical carcinosarcoma skos:exactMatch NCIT:C36097 Cervical Carcinosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002879 uterine body mixed cancer skos:exactMatch NCIT:C6311 Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002880 ovarian adenosarcoma skos:exactMatch NCIT:C7317 Ovarian Adenosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0002881 vaginal adenosarcoma skos:exactMatch NCIT:C40277 Vaginal Adenosarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1066,8 +1065,8 @@ MONDO:0004712 herpes simplex dermatitis skos:exactMatch NCIT:C35620 Herpes Simpl MONDO:0004716 stomach carcinoma in situ skos:exactMatch NCIT:C7788 Stage 0 Gastric Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004719 hard palate cancer skos:exactMatch NCIT:C3528 Malignant Hard Palate Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004720 variola minor infection skos:exactMatch NCIT:C34365 Alastrim semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C8396 Submandibular Gland Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0004724 submandibular gland cancer skos:exactMatch NCIT:C3526 Malignant Submandibular Gland Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant submandibular gland neoplasm LEXMATCH MONDO:0004725 rectum carcinoma in situ skos:exactMatch NCIT:C4853 Stage 0 Rectal Cancer AJCC v6 and v7 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004726 liver inflammatory myofibroblastic tumor skos:exactMatch NCIT:C5858 Liver Inflammatory Myofibroblastic Tumor semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0004733 pyriform sinus cancer skos:exactMatch NCIT:C3531 Malignant Pyriform Fossa Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1541,8 +1540,8 @@ MONDO:0006676 beriberi skos:exactMatch NCIT:C34418 Vitamin B1 Deficiency semapv: MONDO:0006680 blue nevus skos:exactMatch NCIT:C3803 Blue Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006700 choroid cancer skos:exactMatch NCIT:C3566 Malignant Choroid Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006701 chromophobe adenoma skos:exactMatch NCIT:C2857 Pituitary Gland Chromophobe Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C6801 Skin Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C8402 Fibrohistiocytic Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label fibrohistiocytic neoplasm LEXMATCH +MONDO:0006717 cutaneous fibrous histiocytoma skos:exactMatch NCIT:C6801 Skin Fibrous Histiocytoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006734 benign duodenal neoplasm skos:exactMatch NCIT:C4775 Benign Duodenal Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006742 endemic goiter skos:exactMatch NCIT:C35023 Endemic Goiter semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006745 endometrioid stromal sarcoma skos:exactMatch NCIT:C8973 Endometrioid Stromal Sarcoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1567,8 +1566,8 @@ MONDO:0006859 mucinous cystadenoma skos:exactMatch NCIT:C2973 Mucinous Cystadeno MONDO:0006883 malignant superior sulcus neoplasm skos:exactMatch NCIT:C7527 Malignant Superior Sulcus Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006886 thyroid gland papillary and follicular carcinoma skos:exactMatch NCIT:C7380 Thyroid Gland Papillary and Follicular Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006889 paraphimosis skos:exactMatch NCIT:C34893 Paraphimosis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C3916 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C156757 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0006890 parathyroid gland adenoma skos:exactMatch NCIT:C3916 Parathyroid Gland Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006905 pigmented spindle cell nevus skos:exactMatch NCIT:C4751 Pigmented Spindle Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006908 pituitary apoplexy skos:exactMatch NCIT:C26853 Pituitary Gland Apoplexy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0006921 Actinomycetales infectious disease skos:exactMatch NCIT:C84534 Actinomycetales Infection semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1683,8 +1682,8 @@ MONDO:0008970 chondrodysplasia Blomstrand type skos:exactMatch NCIT:C131420 Blom MONDO:0009022 corpus callosum, agenesis of skos:exactMatch NCIT:C98905 Corpus Callosum Agenesis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009025 apparent mineralocorticoid excess skos:exactMatch NCIT:C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009047 cryptorchidism skos:exactMatch NCIT:C12326 Undescended Testes semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 LEXMATCH MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C98910 Cytochrome-C Oxidase Deficiency semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0009068 cytochrome-c oxidase deficiency disease skos:exactMatch NCIT:C176895 Mitochondrial Complex IV Deficiency, Nuclear Type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mitochondrial complex iv deficiency, nuclear type 1 LEXMATCH MONDO:0009130 Dyggve-Melchior-Clausen disease skos:exactMatch NCIT:C124844 Dyggve-Melchior-Clausen Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium skos:exactMatch NCIT:C114781 Dialysis Disequilibrium Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009141 torsion dystonia 2 skos:exactMatch NCIT:C123415 Autosomal Recessive Torsion Dystonia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1734,8 +1733,8 @@ MONDO:0010030 Sjogren syndrome skos:exactMatch NCIT:C70647 Sicca Syndrome semapv MONDO:0010130 dihydropyrimidine dehydrogenase deficiency skos:exactMatch NCIT:C3964 Dihydrouracil Dehydrogenase Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label dihydrouracil dehydrogenase deficiency LEXMATCH MONDO:0010186 vitamin D-dependent rickets, type 2A skos:exactMatch NCIT:C131075 Vitamin D Dependent Rickets 2a semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010188 familial isolated deficiency of vitamin E skos:exactMatch NCIT:C155996 Ataxia with Isolated Vitamin E Deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label ataxia with isolated vitamin e deficiency LEXMATCH -MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome LEXMATCH MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C35764 Wernicke-Korsakoff Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0010198 Wernicke-Korsakoff syndrome skos:exactMatch NCIT:C84803 Korsakoff Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label korsakoff syndrome LEXMATCH MONDO:0010278 Christianson syndrome skos:exactMatch NCIT:C181001 Mental Retardation, X-Linked Syndromic, Christianson Type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mental retardation, x-linked syndromic, christianson type LEXMATCH MONDO:0010281 Danon disease skos:exactMatch NCIT:C84735 Glycogen Storage Disease Type IIb semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0010293 ectodermal dysplasia and immune deficiency skos:exactMatch NCIT:C118844 Ectodermal Dysplasia and Immunodeficiency semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1946,7 +1945,6 @@ MONDO:0016474 drug-induced lupus erythematosus skos:exactMatch NCIT:C114354 Drug MONDO:0016505 aldosterone-producing adrenal cortex adenoma skos:exactMatch NCIT:C48451 Aldosterone-Producing Adrenal Cortical Adenoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016535 hypohidrotic ectodermal dysplasia skos:exactMatch NCIT:C84562 Anhidrotic Ectodermal Dysplasia 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016537 lymphoproliferative syndrome skos:exactMatch NCIT:C9308 Lymphoproliferative Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016642 meningioma skos:exactMatch NCIT:C4656 Intracranial Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma LEXMATCH MONDO:0016654 ring chromosome 5 skos:exactMatch NCIT:C121984 ROSE Cluster 5 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016664 drug-induced vasculitis skos:exactMatch NCIT:C112204 Drug Induced Cutaneous Vasculitis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016668 sickle cell-beta-thalassemia disease syndrome skos:exactMatch NCIT:C81288 S-Beta Thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label s-beta thalassemia LEXMATCH @@ -1956,8 +1954,8 @@ MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroect MONDO:0016715 ependymoblastoma skos:exactMatch NCIT:C186534 Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes LEXMATCH MONDO:0016729 mixed neuronal-glial tumor skos:exactMatch NCIT:C4747 Glioneuronal and Neuronal Tumors semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0016747 primary melanoma of the central nervous system skos:exactMatch NCIT:C5505 Central Nervous System Melanoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma LEXMATCH MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C3742 Myofibromatosis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0016824 infantile myofibromatosis skos:exactMatch NCIT:C27498 Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma LEXMATCH MONDO:0017025 Langerhans cell histiocytosis specific to childhood skos:exactMatch NCIT:C114483 Childhood Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017029 Langerhans cell histiocytosis specific to adulthood skos:exactMatch NCIT:C114929 Adult Langerhans Cell Histiocytosis semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017050 intraocular medulloepithelioma skos:exactMatch NCIT:C66806 Ciliary Body Medulloepithelioma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1986,7 +1984,6 @@ MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma skos:exactMatch NCIT: MONDO:0017615 benign familial infantile epilepsy skos:exactMatch NCIT:C183308 Benign Familial Infantile Seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial infantile seizures LEXMATCH MONDO:0017843 congenital pulmonary sequestration skos:exactMatch NCIT:C97124 Bronchopulmonary Sequestration semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017853 hypersensitivity pneumonitis skos:exactMatch NCIT:C34369 Extrinsic Allergic Alveolitis semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0017858 acute erythroid leukemia skos:exactMatch NCIT:C7152 Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia LEXMATCH MONDO:0017884 papillary renal cell carcinoma skos:exactMatch NCIT:C27890 Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma LEXMATCH MONDO:0017887 renal cell carcinoma associated with neuroblastoma skos:exactMatch NCIT:C100051 Renal Cell Carcinoma Associated with Neuroblastoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0017895 familial papillary or follicular thyroid carcinoma skos:exactMatch NCIT:C118829 Familial Nonmedullary Thyroid Gland Carcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2767,8 +2764,8 @@ MONDO:0044768 vagus nerve paraganglioma skos:exactMatch NCIT:C8427 Vagal Paragan MONDO:0044781 nephrotic syndrome of childhood - steroid sensitive skos:exactMatch NCIT:C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044784 myxoma skos:exactMatch NCIT:C6577 Myxoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044788 perihilar intrahepatic cholangiocarcinoma skos:exactMatch NCIT:C96804 Large Duct Intrahepatic Cholangiocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C4234 Giant Congenital Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C3944 Congenital Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0044792 large congenital melanocytic nevus skos:exactMatch NCIT:C4234 Giant Congenital Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044794 benign melanocytic skin nevus skos:exactMatch NCIT:C7571 Benign Skin Melanocytic Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044795 epithelioid cell nevus skos:exactMatch NCIT:C66757 Epithelioid Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0044796 spindle cell nevus skos:exactMatch NCIT:C66758 Spindle Cell Nevus semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2878,8 +2875,8 @@ MONDO:0700051 liver abscess (disease) skos:exactMatch NCIT:C99089 Liver Abscess MONDO:0700058 Morton neuroma skos:exactMatch NCIT:C4075 Morton Neuroma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700082 Robertsonian translocation Down syndrome skos:exactMatch NCIT:C188150 Robertsonian Translocation Down Syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700086 uniparental disomy skos:exactMatch NCIT:C85215 Uniparental Disomy semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C1535926 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0700092 neurodevelopmental disorder skos:exactMatch NCIT:C89338 Neurodevelopmental Disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700119 distal chromosome 18q deletion syndrome skos:exactMatch NCIT:C130986 Distal 18q Deletion Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal type 18q deletion syndrome LEXMATCH MONDO:0700134 bovine neoplasm skos:exactMatch NCIT:C134527 Bovine Neoplasm semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700136 bovine protoporphyria skos:exactMatch NCIT:C131472 Bovine Protoporphyria semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -2944,8 +2941,8 @@ MONDO:0700198 porcine lymphoma skos:exactMatch NCIT:C134786 Porcine Lymphoma sem MONDO:0700199 sheep lung adenocarcinoma skos:exactMatch NCIT:C147532 Sheep Lung Adenocarcinoma semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700217 neonatal sepsis skos:exactMatch NCIT:C116802 Neonatal Sepsis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neonatal sepsis LEXMATCH MONDO:0700218 group B streptococcal infection skos:exactMatch NCIT:C87168 Group B Streptococcal Infection semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C27383 Meningeal Carcinomatosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meningeal carcinomatosis LEXMATCH +MONDO:0700219 neoplastic meningitis skos:exactMatch NCIT:C3814 Metastatic Malignant Neoplasm in the Leptomeninges semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0700226 food allergy skos:exactMatch NCIT:C172304 Food Allergy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label food allergy LEXMATCH MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease skos:exactMatch NCIT:C98889 Congenital Central Hypoventilation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0800029 interstitial lung disease 2 skos:exactMatch NCIT:C35715 Usual Interstitial Pneumonia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label usual interstitial pneumonia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 432b17e7..01d3aa24 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -149,7 +149,6 @@ MONDO:0009248 fructose and galactose intolerance skos:exactMatch OMIM:229500 fru MONDO:0009259 gamma-glutamylcysteine synthetase deficiency skos:exactMatch OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009261 GM1 gangliosidosis type 2 skos:exactMatch OMIM:230600 gm1-gangliosidosis, iia 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009262 GM1 gangliosidosis type 3 skos:exactMatch OMIM:230650 gm1-gangliosidosis, iia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0009288 glycogen storage disease Ib skos:exactMatch OMIM:232220 glycogen storage disease ib semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009346 histidinuria due to a renal tubular defect skos:exactMatch OMIM:235830 histidinuria due to a renal tubular defect semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009366 normal pressure hydrocephalus skos:exactMatch OMIM:236690 hydrocephalus, normal-pressure, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0009382 hyperbilirubinemia, shunt, primary skos:exactMatch OMIM:237800 hyperbilirubinemia, shunt, primary semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -604,7 +603,7 @@ MONDO:0013192 spondyloarthropathy, susceptibility to, 3 skos:exactMatch OMIM:613 MONDO:0013193 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013196 Lynch syndrome 8 skos:exactMatch OMIM:613244 lynch syndrome 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013213 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch OMIM:613290 hearing loss, cisplatin-induced, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0013214 bile acid malabsorption, primary skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0013214 bile acid malabsorption, primary, 1 skos:exactMatch OMIM:613291 bile acid malabsorption, primary, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013219 hypophosphatemic rickets, autosomal recessive, 2 skos:exactMatch OMIM:613312 hypophosphatemic rickets, autosomal recessive, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013225 congenital generalized lipodystrophy type 4 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized, iia 4 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0013230 epilepsy, hot water, 2 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1270,7 +1269,6 @@ MONDO:0030749 epidermolysis bullosa, junctional 3B, severe skos:exactMatch OMIM: MONDO:0030756 Stuve-Wiedemann syndrome 2 skos:exactMatch OMIM:619751 stuve-wiedemann syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate skos:exactMatch OMIM:619816 epidermolysis bullosa, junctional 5a, intermediate semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch OMIM:619775 congenital disorder of deglycosylation 2 semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0030781 restrictive dermopathy 2 skos:exactMatch OMIM:619793 restrictive dermopathy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly skos:exactMatch OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030787 spermatogenic failure 71 skos:exactMatch OMIM:619831 spermatogenic failure 71 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0030797 retinitis pigmentosa 93 skos:exactMatch OMIM:619845 retinitis pigmentosa 93 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1630,24 +1628,152 @@ MONDO:0800268 atrioventricular septal defect, susceptibility to, 1 skos:exactMat MONDO:0800437 Carey-Fineman-Ziter syndrome 1 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859046 rhabdomyosarcoma, embryonal, 2 skos:exactMatch OMIM:180295 rhabdomyosarcoma, embryonal, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies skos:exactMatch OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859081 chromosome Xq13 duplication syndrome skos:exactMatch OMIM:301069 chromosome xq13 duplication syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859083 systemic lupus erythematosus 17 skos:exactMatch OMIM:301080 systemic lupus erythematosus 17 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked skos:exactMatch OMIM:301094 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859086 intellectual developmental disorder, X-linked 110 skos:exactMatch OMIM:301095 intellectual developmental disorder, X-linked 110 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859136 Alzahrani-Kuwahara syndrome skos:exactMatch OMIM:619268 alzahrani-kuwahara syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia skos:exactMatch OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859139 blepharophimosis-impaired intellectual development syndrome skos:exactMatch OMIM:619293 blepharophimosis-impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia skos:exactMatch OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859142 Hiatt-Neu-Cooper neurodevelopmental syndrome skos:exactMatch OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch OMIM:619312 radio-tartaglia syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859144 Buratti-Harel syndrome skos:exactMatch OMIM:619314 buratti-harel syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies skos:exactMatch OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch OMIM:619322 marbach-rustad progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth skos:exactMatch OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction skos:exactMatch OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859154 Bartsocas-Papas syndrome 2 skos:exactMatch OMIM:619339 bartsocas-papas syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859155 chromosome 1p36 deletion syndrome, proximal skos:exactMatch OMIM:619343 chromosome 1p36 deletion syndrome, proximal semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859157 visceral myopathy 2 skos:exactMatch OMIM:619350 visceral myopathy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset skos:exactMatch OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy skos:exactMatch OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859160 Mitochondrial complex IV deficiency, nuclear type 22 skos:exactMatch OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms skos:exactMatch OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859163 Faundes-Banka syndrome skos:exactMatch OMIM:619376 faundes-banka syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859164 osteootohepatoenteric syndrome skos:exactMatch OMIM:619377 osteootohepatoenteric syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities skos:exactMatch OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy skos:exactMatch OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859169 White-Kernohan syndrome skos:exactMatch OMIM:619426 white-kernohan syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859171 Luo-Schoch-Yamamoto syndrome skos:exactMatch OMIM:619460 luo-schoch-yamamoto syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859173 sick sinus syndrome 4 skos:exactMatch OMIM:619464 sick sinus syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859174 Usmani-Riazuddin syndrome, autosomal dominant skos:exactMatch OMIM:619467 usmani-riazuddin syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859175 nephronophthisis-like nephropathy 2 skos:exactMatch OMIM:619468 nephronophthisis-like nephropathy 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities skos:exactMatch OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859177 VISS syndrome skos:exactMatch OMIM:619472 viss syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities skos:exactMatch OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum skos:exactMatch OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859180 bile acid malabsorption, primary, 2 skos:exactMatch OMIM:619481 bile acid malabsorption, primary, 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859181 DEGCAGS syndrome skos:exactMatch OMIM:619488 degcags syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859182 Short stature, Dauber-Argente type skos:exactMatch OMIM:619489 short stature, dauber-argente iia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to skos:exactMatch OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies skos:exactMatch OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859186 Chopra-Amiel-Gordon syndrome skos:exactMatch OMIM:619504 chopra-amiel-gordon syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities skos:exactMatch OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities skos:exactMatch OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome skos:exactMatch OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities skos:exactMatch OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome skos:exactMatch OMIM:619534 biliary, renal, neurologic, and skeletal syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859193 neuroocular syndrome skos:exactMatch OMIM:619539 neuroocular syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859194 Boudin-Mortier syndrome skos:exactMatch OMIM:619543 boudin-mortier syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859196 Usmani-Riazuddin syndrome, autosomal recessive skos:exactMatch OMIM:619548 usmani-riazuddin syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies skos:exactMatch OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities skos:exactMatch OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects skos:exactMatch OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures skos:exactMatch OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities skos:exactMatch OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies skos:exactMatch OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:exactMatch OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay skos:exactMatch OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859208 Hengel-Maroofian-Schols syndrome skos:exactMatch OMIM:619641 hengel-maroofian-schols syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859209 Zaki syndrome skos:exactMatch OMIM:619648 zaki syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859210 chromosome 16q12 duplication syndrome skos:exactMatch OMIM:619649 chromosome 16q12 duplication syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia skos:exactMatch OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus skos:exactMatch OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859214 Marbach-Schaaf neurodevelopmental syndrome skos:exactMatch OMIM:619680 marbach-schaaf neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia skos:exactMatch OMIM:619681 dystonia, early-onset, and/or spastic paraplegia semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis skos:exactMatch OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859217 Brunet-Wagner neurodevelopmental syndrome skos:exactMatch OMIM:619690 brunet-wagner neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859218 developmental delay with variable neurologic and brain abnormalities skos:exactMatch OMIM:619694 developmental delay with variable neurologic and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch OMIM:619695 rauch-steindl syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859220 Ferguson-Bonni neurodevelopmental syndrome skos:exactMatch OMIM:619699 ferguson-bonni neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859221 Yoon-Bellen neurodevelopmental syndrome skos:exactMatch OMIM:619701 yoon-bellen neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859223 congenital disorder of glycosylation, type Iw, autosomal dominant skos:exactMatch OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859224 intellectual disability and myopathy syndrome skos:exactMatch OMIM:619719 intellectual disability and myopathy syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities skos:exactMatch OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859228 combined oxidative phosphorylation deficiency 55 skos:exactMatch OMIM:619743 combined oxidative phosphorylation deficiency 55 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism skos:exactMatch OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859230 Kury-Isidor syndrome skos:exactMatch OMIM:619762 kury-isidor syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies skos:exactMatch OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859234 agammaglobulinemia 8b, autosomal recessive skos:exactMatch OMIM:619824 agammaglobulinemia 8b, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities skos:exactMatch OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859237 3-methylglutaconic aciduria, type VIIA skos:exactMatch OMIM:619835 3-methylglutaconic aciduria, iia 7a semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859239 Chilton-Okur-Chung neurodevelopmental syndrome skos:exactMatch OMIM:619841 chilton-okur-chung neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy skos:exactMatch OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly skos:exactMatch OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859242 leukodystrophy, hypomyelinating, 24 skos:exactMatch OMIM:619851 leukodystrophy, hypomyelinating, 24 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities skos:exactMatch OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 skos:exactMatch OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859247 neurocardiofaciodigital syndrome skos:exactMatch OMIM:619869 neurocardiofaciodigital syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859249 parenti-mignot neurodevelopmental syndrome skos:exactMatch OMIM:619873 parenti-mignot neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures skos:exactMatch OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859251 Dentici-Novelli neurodevelopmental syndrome skos:exactMatch OMIM:619877 dentici-novelli neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies skos:exactMatch OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay skos:exactMatch OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive skos:exactMatch OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859256 neurodevelopmental disorder with language delay and seizures skos:exactMatch OMIM:619908 neurodevelopmental disorder with language delay and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:exactMatch OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859258 neurodevelopmental disorder with dystonia and seizures skos:exactMatch OMIM:619922 neurodevelopmental disorder with dystonia and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859260 Dworschak-Punetha neurodevelopmental syndrome skos:exactMatch OMIM:619955 dworschak-punetha neurodevelopmental syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859261 attention deficit-hyperactivity disorder 8 skos:exactMatch OMIM:619957 attention deficit-hyperactivity disorder 8 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859262 ACCES syndrome skos:exactMatch OMIM:619959 acces syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures skos:exactMatch OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy skos:exactMatch OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy skos:exactMatch OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859267 tumor predisposition syndrome 2 skos:exactMatch OMIM:619975 tumor predisposition syndrome 2 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies skos:exactMatch OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies skos:exactMatch OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities skos:exactMatch OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome skos:exactMatch OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects skos:exactMatch OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive skos:exactMatch OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 skos:exactMatch OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859280 developmental delay, hypotonia, and impaired language skos:exactMatch OMIM:620012 developmental delay, hypotonia, and impaired language semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures skos:exactMatch OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay skos:exactMatch OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures skos:exactMatch OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language skos:exactMatch OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859288 bone marrow failure and diabetes mellitus syndrome skos:exactMatch OMIM:620044 bone marrow failure and diabetes mellitus syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders skos:exactMatch OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment skos:exactMatch OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties skos:exactMatch OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:exactMatch OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly skos:exactMatch OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859300 Neuronopathy, distal hereditary motor, type X skos:exactMatch OMIM:620080 neuronopathy, distal hereditary motor, iia 10 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction skos:exactMatch OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies skos:exactMatch OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859308 retinitis pigmentosa 95 skos:exactMatch OMIM:620102 retinitis pigmentosa 95 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859309 spastic paraplegia 88, autosomal dominant skos:exactMatch OMIM:620106 spastic paraplegia 88, autosomal dominant semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch OMIM:620107 orofaciodigital syndrome 19 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J skos:exactMatch OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities skos:exactMatch OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures skos:exactMatch OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859314 developmental and epileptic encephalopathy 108 skos:exactMatch OMIM:620115 developmental and epileptic encephalopathy 108 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859316 iron overload, susceptibility to skos:exactMatch OMIM:620121 iron overload, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859317 Pseudohypoaldosteronism, type IB2, autosomal recessive skos:exactMatch OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859318 Pseudohypoaldosteronism, type IB3, autosomal recessive skos:exactMatch OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 skos:exactMatch OMIM:620133 dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 skos:exactMatch OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 skos:exactMatch OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859323 combined oxidative phosphorylation deficiency 56 skos:exactMatch OMIM:620139 combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:exactMatch OMIM:620141 developmental delay, language impairment, and ocular abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859325 developmental and epileptic encephalopathy 109 skos:exactMatch OMIM:620145 developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859327 developmental and epileptic encephalopathy 110 skos:exactMatch OMIM:620149 developmental and epileptic encephalopathy 110 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859329 mosaic variegated aneuploidy syndrome 4 skos:exactMatch OMIM:620153 mosaic variegated aneuploidy syndrome 4 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859330 oocyte maturation defect 13 skos:exactMatch OMIM:620154 oocyte maturation defect 13 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859331 Rabin-Pappas syndrome skos:exactMatch OMIM:620155 rabin-pappas syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 skos:exactMatch OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 skos:exactMatch OMIM:620157 intellectual developmental disorder, autosomal dominant 70 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859334 spinocerebellar ataxia 50 skos:exactMatch OMIM:620158 spinocerebellar ataxia 50 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1657,7 +1783,11 @@ MONDO:0859339 tooth agenesis, selective, 10 skos:exactMatch OMIM:620173 tooth ag MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:exactMatch OMIM:620174 spinocerebellar ataxia 27b, late-onset semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859341 hypotrichosis 15 skos:exactMatch OMIM:620177 hypotrichosis 15 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859342 microcephaly 30, primary, autosomal recessive skos:exactMatch OMIM:620183 microcephaly 30, primary, autosomal recessive semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome skos:exactMatch OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition skos:exactMatch OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities skos:exactMatch OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies skos:exactMatch OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859351 obesity and hypopigmentation skos:exactMatch OMIM:620195 obesity and hypopigmentation semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859352 spermatogenic failure 79 skos:exactMatch OMIM:620196 spermatogenic failure 79 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus skos:exactMatch OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859354 thyroid hormone metabolism, abnormal, 3 skos:exactMatch OMIM:620198 thyroid hormone metabolism, abnormal, 3 semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1665,16 +1795,36 @@ MONDO:0859356 congenital disorder of glycosylation, type IIy skos:exactMatch OMI MONDO:0859357 congenital disorder of glycosylation, type IIz skos:exactMatch OMIM:620201 congenital disorder of glycosylation, iia iiz semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859358 cardiomyopathy, dilated, 2H skos:exactMatch OMIM:620203 cardiomyopathy, dilated, 2h semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 skos:exactMatch OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia skos:exactMatch OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 skos:exactMatch OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia skos:exactMatch OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859364 spermatogenic failure 80 skos:exactMatch OMIM:620222 spermatogenic failure 80 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures skos:exactMatch OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859367 retinitis pigmentosa 96 skos:exactMatch OMIM:620228 retinitis pigmentosa 96 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859368 short QT syndrome 7 skos:exactMatch OMIM:620231 short qt syndrome 7 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859369 joint contractures, osteochondromas, and B-cell lymphoma skos:exactMatch OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859371 rhabdomyolysis, susceptibility to, 1 skos:exactMatch OMIM:620235 rhabdomyolysis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies skos:exactMatch OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 skos:exactMatch OMIM:620237 intellectual developmental disorder, autosomal recessive 78 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities skos:exactMatch OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to skos:exactMatch OMIM:620241 hydrocephalus, congenital, 5, susceptibility to semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities skos:exactMatch OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859378 leukodystrophy, hypomyelinating, 25 skos:exactMatch OMIM:620243 leukodystrophy, hypomyelinating, 25 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859379 lymphatic malformation 13 skos:exactMatch OMIM:620244 lymphatic malformation 13 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859380 episodic kinesigenic dyskinesia 3 skos:exactMatch OMIM:620245 episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859381 cardiomyopathy, dilated, 100 skos:exactMatch OMIM:620247 cardiomyopathy, dilated, 1oo semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0859382 cataract 50 with or without glaucoma skos:exactMatch OMIM:620253 cataract 50 with or without glaucoma semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859477 spermatogenic failure, X-linked, 5 skos:exactMatch OMIM:301099 spermatogenic failure, x-linked, 5 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859478 spermatogenic failure, X-linked, 6 skos:exactMatch OMIM:301101 spermatogenic failure, x-linked, 6 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum skos:exactMatch OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859520 Mitochondrial complex IV deficiency, nuclear type 23 skos:exactMatch OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859521 oocyte maturation defect 14 skos:exactMatch OMIM:620276 oocyte maturation defect 14 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859522 spermatogenic failure 81 skos:exactMatch OMIM:620277 spermatogenic failure 81 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859524 hearing loss, autosomal dominant 86 skos:exactMatch OMIM:620280 deafness, autosomal dominant 86 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch OMIM:620281 deafness, autosomal dominant 87 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch OMIM:620283 deafness, autosomal dominant 88 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch OMIM:620284 deafness, autosomal dominant 89 semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile skos:exactMatch OMIM:620285 amyotrophic lateral sclerosis 27, juvenile semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859530 myopathy, sarcoplasmic body skos:exactMatch OMIM:620286 myopathy, sarcoplasmic body semapv:UnspecifiedMatching MONDO_MAPPINGS +MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures skos:exactMatch OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000013 portal hypertension, noncirrhotic, 1 skos:exactMatch OMIM:617068 portal hypertension, noncirrhotic, 1 semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index 1543eeb8..65c26afe 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -75,7 +75,6 @@ MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch MONDO:0015330 overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching MONDO_MAPPINGS -MONDO:0015333 progeroid syndrome skos:exactMatch Orphanet:139033 Progeroid syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015334 branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015335 Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching MONDO_MAPPINGS @@ -1412,6 +1411,7 @@ MONDO:0850107 postinfectious cerebellitis skos:exactMatch Orphanet:624244 Postin MONDO:0850108 non-specific autoimmune cerebellar ataxia with characteristic antibodies skos:exactMatch Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:0851095 KINSSHIP syndrome skos:exactMatch Orphanet:632603 Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome LEXMATCH MONDO:0859150 BDV syndrome skos:exactMatch Orphanet:633028 CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome LEXMATCH +MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency skos:exactMatch Orphanet:633099 PAICS deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphoribosylaminoimidazole carboxylase deficiency LEXMATCH MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching MONDO_MAPPINGS MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv index 3f5472fc..12056e62 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_narrowmatch_doid.tsv @@ -1,7 +1,3 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0004249 pediatric supratentorial ependymoma skos:narrowMatch DOID:0080890 supratentorial ependymoma semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label supratentorial ependymoma LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym distal hmn v LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111203 distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym oio:hasExactSynonym dhmn5 LEXMATCH -MONDO:0015353 neuronopathy, distal hereditary motor, type 5A skos:narrowMatch DOID:0111214 distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label distal spinal muscular atrophy type 5 LEXMATCH -MONDO:0020793 oculopharyngodistal myopathy 1 skos:narrowMatch DOID:0081296 oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label oculopharyngodistal myopathy LEXMATCH +MONDO:0007538 amelogenesis imperfecta, type 3A skos:narrowMatch DOID:0111721 amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label amelogenesis imperfecta type 3 LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 4f31ef57..e78a478d 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -1,387 +1,13 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0000023 infantile liver failure DOID:0080716 MONDO:equivalentTo infantile liver failure syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile liver failure syndrome MONDO:0002514 hepatobiliary neoplasm DOID:3117 MONDO:equivalentTo hepatobiliary benign neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hepatobiliary tumors -MONDO:0005161 human papilloma virus infection DOID:11166 MONDO:equivalentTo Human papillomavirus infectious disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label human papillomavirus infectious disorder -MONDO:0005224 acute myeloblastic leukemia without maturation DOID:0081086 MONDO:equivalentTo acute myeloid leukemia without maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia without maturation MONDO:0006033 diffuse intrinsic pontine glioma DOID:0080684 MONDO:equivalentTo diffuse midline glioma, H3 K27M-mutant semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym diffuse intrinsic pontine glioma MONDO:0006515 acute pancreatitis DOID:0080998 MONDO:equivalentTo acute necrotizing pancreatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute necrotizing pancreatitis -MONDO:0006624 overactive bladder DOID:0070355 MONDO:equivalentTo overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym overactive bladder -MONDO:0006624 overactive bladder DOID:0070355 MONDO:equivalentTo overactive bladder syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym overactive bladder -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal dominant palmoplantar hyperkeratosis and congenital alopecia -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant palmoplantar keratoderma and congenital alopecia -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label palmoplantar keratoderma and congenital alopecia type 1 -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar keratoderma and congenital alopecia, stevanovic type -MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ppk-ca, stevanovic type -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym guam disorder -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lytico-bodig disorder -MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym parkinsonism-dementia-als complex -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-like hand anomaly-sensorineural deafness syndrome -MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 6 -MONDO:0007160 Stickler syndrome type 1 DOID:0080676 MONDO:equivalentTo Stickler syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 1 -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 3 -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gordon syndrome -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gordon syndrome -MONDO:0007252 Gordon syndrome DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym camptodactyly-cleft palate-clubfoot syndrome -MONDO:0007478 autosomal dominant Kenny-Caffey syndrome DOID:0080723 MONDO:equivalentTo Kenny-Caffey syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 2 -MONDO:0007538 amelogenesis imperfecta, type 3A DOID:0111721 MONDO:equivalentTo amelogenesis imperfecta type 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label amelogenesis imperfecta type 3 -MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 1 -MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym frontorhiny -MONDO:0007636 frontorhiny DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym frontorhiny -MONDO:0007648 hereditary diffuse gastric adenocarcinoma DOID:0080764 MONDO:equivalentTo hereditary diffuse gastric cancer semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hereditary diffuse gastric cancer -MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apoa5 deficiency -MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym familial apolipoprotein a-v deficiency -MONDO:0007762 hyperlipoproteinemia type V DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label familial apolipoprotein a5 deficiency -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital primary lymphedema -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym milroy disorder -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nonne-milroy lymphedema -MONDO:0007919 lymphatic malformation 1 DOID:0070212 MONDO:equivalentTo hereditary lymphedema I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hereditary lymphedema type i -MONDO:0008048 autosomal dominant centronuclear myopathy DOID:0111223 MONDO:equivalentTo centronuclear myopathy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 1 -MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant DOID:0112285 MONDO:equivalentTo autosomal dominant spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant spondyloepiphyseal dysplasia tarda -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia, schmidt type -MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia with severe genu valgum -MONDO:0008675 Freeman-Sheldon syndrome DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type 2a -MONDO:0008675 Freeman-Sheldon syndrome DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 2a -MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alpha-ketoglutarate dehydrogenase deficiency -MONDO:0008759 oxoglutaricaciduria DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label oxoglutarate dehydrogenase deficiency -MONDO:0008926 COFS syndrome DOID:0080910 MONDO:equivalentTo cerebrooculofacioskeletal syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cerebrooculofacioskeletal syndrome -MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive DOID:0080802 MONDO:equivalentTo autosomal recessive craniometaphyseal dysplasia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive craniometaphyseal dysplasia -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher disorder type 3c -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cardiovascular gaucher disorder -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym gaucher disorder-ophthalmoplegia-cardiovascular calcification syndrome -MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gaucher-like disorder -MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria DOID:0112252 MONDO:equivalentTo glutathione synthetase deficiency of erythrocytes semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glutathione synthetase deficiency without type 5-oxoprolinuria -MONDO:0009305 granulocytopenia with immunoglobulin abnormality DOID:0111974 MONDO:equivalentTo immunodeficiency 59 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 59 and hypoglycemia -MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to rag type 1/2 deficiency -MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to rag type 1/2 deficiency -MONDO:0009306 combined immunodeficiency with skin granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency with skin granulomas -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nags deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency -MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hyperammonemia due to n-acetylglutamate synthase deficiency -MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy DOID:0112263 MONDO:equivalentTo hypoinsulinemic hypoglycemia with hemihypertrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoinsulinemic hypoglycemia and body hemihypertrophy -MONDO:0009486 autosomal recessive Kenny-Caffey syndrome DOID:0080722 MONDO:equivalentTo Kenny-Caffey syndrome type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kenny-caffey syndrome type 1 -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym action myoclonus-renal failure syndrome -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myoclonus-nephropathy syndrome -MONDO:0009699 action myoclonus-renal failure syndrome DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym action myoclonus-renal failure syndrome -MONDO:0009779 autosomal recessive omodysplasia DOID:0080844 MONDO:equivalentTo omodysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label omodysplasia type 1 -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-beta-hydroxysteroid dehydrogenase type 3 deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketoreductase deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 17-ketosteroidreductase deficiency -MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym 46,xy disorder of sex development due to type 17-beta-hydroxysteroid dehydrogenase type 3 deficiency -MONDO:0009926 autosomal recessive multiple pterygium syndrome DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive multiple pterygium syndrome -MONDO:0009926 autosomal recessive multiple pterygium syndrome DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive multiple pterygium syndrome -MONDO:0009953 leukocyte adhesion deficiency type II DOID:0080492 MONDO:equivalentTo leukocyte adhesion deficiency 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label leukocyte adhesion deficiency type 2 +MONDO:0009288 glycogen storage disease Ib DOID:0081331 MONDO:equivalentTo glycogen storage disease Ic semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label glycogen storage disorder ic MONDO:0009959 peroxisome biogenesis disorder type 3B DOID:0081241 MONDO:equivalentTo peroxisome biogenesis disorder 3B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 3b -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MONDO:equivalentTo immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to zap70 deficiency -MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency DOID:0111943 MONDO:equivalentTo immunodeficiency 48 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym zeta-associated-protein type 70 deficiency -MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive DOID:0112293 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive spondyloepiphyseal dysplasia tarda -MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome DOID:0112196 MONDO:equivalentTo spondylometaepiphyseal dysplasia, short limb-hand type semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome -MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym encephalopathy due to urocanase deficiency -MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym urocanic aciduria -MONDO:0010167 urocanic aciduria DOID:0112180 MONDO:equivalentTo urocanase deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym urocanic aciduria -MONDO:0010225 Dent disease type 1 DOID:0111798 MONDO:equivalentTo X-linked nephrolithiasis type I semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym nephrolithiasis type 1 -MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym ofcd syndrome -MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oculofaciocardiodental syndrome -MONDO:0010261 microphthalmia, syndromic 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym xlag (x-linked lissencephaly with abnormal genitalia) syndrome -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with ambiguous genitalia -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly with abnormal genitalia -MONDO:0010268 X-linked lissencephaly with abnormal genitalia DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt deficiency, grade i -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related hyperuricemia -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase deficiency, grade i -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypoxanthine guanine phosphoribosyltransferase type 1 partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym kelley-seegmiller syndrome -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt1 partial deficiency -MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hprt-related gout -MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss DOID:0111741 MONDO:equivalentTo X-linked deafness 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked auditory neuropathy with peripheral sensory neuropathy type 1 -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked mendelian susceptibility to mycobacterial disorders due to cybb deficiency -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked msmd due to cybb deficiency -MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency DOID:0112000 MONDO:equivalentTo immunodeficiency 34 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 34 -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gsd due to phosphoglycerate kinase type 1 deficiency -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogenosis due to phosphoglycerate kinase type 1 deficiency -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency -MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym glycogen storage disorder due to phosphoglycerate kinase type 1 deficiency -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe neonatal-onset encephalopathy with microcephaly -MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital encephalopathy due to mecp2 mutation -MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked non progressive cerebellar ataxia -MONDO:0010404 X-linked non progressive cerebellar ataxia DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label x-linked spinocerebellar ataxia type 5 -MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome DOID:0111811 MONDO:equivalentTo syndromic microphthalmia 13 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome -MONDO:0010490 SSR4-congenital disorder of glycosylation DOID:0080574 MONDO:equivalentTo congenital disorder of glycosylation Iy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital disorder of glycosylation type 1y -MONDO:0010506 intellectual disability, X-linked 61 DOID:0112042 MONDO:equivalentTo Tonne-Kalscheuer syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tonne-kalscheuer syndrome -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to moesin deficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 50 -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msn-related combined immunodeficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked moesin-associated immunodeficiency -MONDO:0010514 combined immunodeficiency due to moesin deficiency DOID:0112001 MONDO:equivalentTo immunodeficiency 50 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to moesin deficiency -MONDO:0010529 X-linked spinocerebellar ataxia type 3 DOID:0111831 MONDO:equivalentTo X-linked spinocerebellar ataxia 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 3 -MONDO:0010534 X-linked spinocerebellar ataxia type 4 DOID:0111832 MONDO:equivalentTo X-linked spinocerebellar ataxia 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label x-linked spinocerebellar ataxia type 4 -MONDO:0010547 X-linked progressive cerebellar ataxia DOID:0111829 MONDO:equivalentTo X-linked spinocerebellar ataxia 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked progressive cerebellar ataxia -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and neurosensory hearing loss -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mixed conductive and sensorineural hearing loss -MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher DOID:0111737 MONDO:equivalentTo X-linked deafness 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked stapes gusher syndrome -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hypohidrotic ectodermal dysplasia, x-linked -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym christ-siemens-touraine syndrome -MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked anhidrotic ectodermal dysplasia -MONDO:0010656 intellectual disability, X-linked 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx1 -MONDO:0010656 intellectual disability, X-linked 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrx78 -MONDO:0010706 premature ovarian failure 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 1 -MONDO:0010706 premature ovarian failure 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 1 -MONDO:0010732 spastic paraparesis-deafness syndrome DOID:0081100 MONDO:equivalentTo spastic paraplegia with deafness semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spastic paraparesis-deafness syndrome -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym murcs association -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mrkh syndrome type 2 -MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atypical mrkh syndrome -MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym h syndrome -MONDO:0011273 H syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym h syndrome -MONDO:0011381 dominant beta-thalassemia DOID:0080770 MONDO:equivalentTo autosomal dominant beta thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body beta-thalassemia -MONDO:0011493 Stickler syndrome type 2 DOID:0080675 MONDO:equivalentTo Stickler syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label stickler syndrome type 2 -MONDO:0011577 myopathy, proximal, and ophthalmoplegia DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label proximal myopathy and ophthalmoplegia -MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym interleukin-2 receptor alpha chain deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency due to cd25 deficiency -MONDO:0011664 immunodeficiency due to CD25 deficiency DOID:0111968 MONDO:equivalentTo immunodeficiency 41 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency due to cd25 deficiency -MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome DOID:0112305 MONDO:equivalentTo spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome -MONDO:0011904 seizures, benign familial infantile, 3 DOID:0081116 MONDO:equivalentTo benign familial infantile seizures 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign familial neonatal-infantile seizures -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia with brain and digit anomalies -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym microphthalmia with brain and digit anomalies -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym bakrania-ragge syndrome -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym syndromic microphthalmia type 6 -MONDO:0011936 microphthalmia with brain and digit anomalies DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 6 -MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym myopathy, myosin storage, autosomal dominant -MONDO:0012018 myopathy, myosin storage, autosomal dominant DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym myopathy, myosin storage, autosomal dominant -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym smd-crd -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondylometaphyseal dysplasia-cone-rod dystrophy syndrome -MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal arthrogryposis type iid -MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 4 -MONDO:0012195 arthrogryposis-severe scoliosis syndrome DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym arthrogryposis-severe scoliosis syndrome -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label schindler disorder type 1 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 1 -MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 1 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym alpha-n-acetylgalactosaminidase deficiency type 2 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label kanzaki disorder -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym naga deficiency type 2 -MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 DOID:0112319 MONDO:equivalentTo Kanzaki disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym adult-onset alpha-n-acetylgalactosaminidase deficiency -MONDO:0012351 zygodactyly type 1 DOID:0111820 MONDO:equivalentTo zygodactyly 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label zygodactyly type 1 -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DOID:0111967 MONDO:equivalentTo immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym primary immunodeficiency due to mcm4 deficiency -MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency DOID:0111967 MONDO:equivalentTo immunodeficiency 54 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency -MONDO:0012410 Finnish upper limb-onset distal myopathy DOID:0111189 MONDO:equivalentTo distal muscular dystrophy 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal myopathy type 3 -MONDO:0012413 syndromic microphthalmia type 5 DOID:0111806 MONDO:equivalentTo syndromic microphthalmia 5 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label syndromic microphthalmia type 5 -MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym infantile agranulocytosis -MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kostmann syndrome -MONDO:0012548 Kostmann syndrome DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 3 -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acad9 deficiency -MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acyl-coa dehydrogenase type 9 deficiency -MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym microphthalmia-brain atrophy syndrome -MONDO:0012638 microphthalmia-brain atrophy syndrome DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label syndromic microphthalmia type 10 -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sed-bds -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym spondyloepiphyseal dysplasia, cantu type -MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym tattoo dysplasia -MONDO:0012883 acute promyelocytic leukemia DOID:0081081 MONDO:equivalentTo acute promyelocytic leukemia with PML-RARA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute promyelocytic leukemia with pml-rara -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label severe congenital neutropenia type 4 -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome -MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to g6pc3 deficiency -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 9 -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to orai1 deficiency -MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency DOID:0111976 MONDO:equivalentTo immunodeficiency 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to orai1 deficiency -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to stim1 deficiency -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to stim1 deficiency -MONDO:0013008 combined immunodeficiency due to STIM1 deficiency DOID:0111970 MONDO:equivalentTo immunodeficiency 10 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 10 -MONDO:0013058 cystic leukoencephalopathy without megalencephaly DOID:0081007 MONDO:equivalentTo RNASET2-deficient cystic leukoencephalopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cystic leukoencephalopathy without megalencephaly -MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins DOID:0080778 MONDO:equivalentTo transient infantile liver failure semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label transient infantile liver failure -MONDO:0013209 non-alcoholic fatty liver disease DOID:0080546 MONDO:equivalentTo non-alcoholic fatty liver semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label non-alcoholic fatty liver -MONDO:0013229 hot water reflex epilepsy DOID:0081104 MONDO:equivalentTo hot water epilepsy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label hot water epilepsy -MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly DOID:0081046 MONDO:equivalentTo frontonasal dysplasia 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 2 -MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome DOID:0081047 MONDO:equivalentTo frontonasal dysplasia 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label frontonasal dysplasia type 3 -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym distal myopathy with posterior leg and anterior hand involvement -MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal abd-filaminopathy -MONDO:0013561 chondrodysplasia with joint dislocations, gPAPP type DOID:0112224 MONDO:equivalentTo chondrodysplasia with joint dislocations gPAPP type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gpapp deficiency -MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label graft-versus-host disorder -MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym graft versus host disorder -MONDO:0013730 graft versus host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym graft versus host disorder -MONDO:0013751 cutis laxa, autosomal dominant 2 DOID:0070136 MONDO:equivalentTo autosomal dominant cutis laxa 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal dominant cutis laxa type 2 -MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label brain small vessel disorder type 2 -MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym porencephaly type 2 -MONDO:0013773 porencephaly 2 DOID:0112314 MONDO:equivalentTo brain small vessel disease 2 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym porencephaly type 2 -MONDO:0013885 Malan overgrowth syndrome DOID:0112102 MONDO:equivalentTo Sotos syndrome 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sotos syndrome type 2 -MONDO:0013890 congenital myopathy with internal nuclei and atypical cores DOID:0111224 MONDO:equivalentTo centronuclear myopathy 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label centronuclear myopathy type 4 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym young adult-onset distal hereditary motor neuropathy -MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dsma5 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive distal spinal muscular atrophy type 5 -MONDO:0013947 young adult-onset distal hereditary motor neuropathy DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym young adult-onset dhmn -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to complete il12rb1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 30 -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete interleukin type 12 receptor beta type 1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to complete il12rb1 deficiency -MONDO:0013955 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency DOID:0111990 MONDO:equivalentTo immunodeficiency 30 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to interleukin type 12 receptor beta type 1 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial interferon regulatory factor type 8 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial interferon regulatory factor type 8 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 32a -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mendelian susceptibility to mycobacterial disorders due to partial irf8 deficiency -MONDO:0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency DOID:0111986 MONDO:equivalentTo immunodeficiency 32A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym msmd due to partial irf8 deficiency -MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement DOID:0112230 MONDO:equivalentTo lissencephaly 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label lissencephaly type 5 -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to card11 deficiency -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to card11 deficiency -MONDO:0014081 severe combined immunodeficiency due to CARD11 deficiency DOID:0111957 MONDO:equivalentTo immunodeficiency 11A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 11a -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital neutropenia-myelofibrosis-nephromegaly syndrome -MONDO:0014118 congenital neutropenia-myelofibrosis-nephromegaly syndrome DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym vps45 deficiency -MONDO:0014119 intellectual disability-strabismus syndrome DOID:0081099 MONDO:equivalentTo neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to malt1 deficiency -MONDO:0014197 combined immunodeficiency due to MALT1 deficiency DOID:0111988 MONDO:equivalentTo immunodeficiency 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 12 -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome DOID:0112344 MONDO:equivalentTo hereditary spastic paraplegia 79 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome -MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome DOID:0112321 MONDO:equivalentTo alacrima, achalasia, and impaired intellectual development syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym alacrima, achalasia, and mental retardation syndrome -MONDO:0014267 severe combined immunodeficiency due to IKK2 deficiency DOID:0111959 MONDO:equivalentTo immunodeficiency 15B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 15b -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to hhv-8 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with impaired immunity to human herpes virus type 8 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym combined immunodeficiency with childhood-onset kaposi sarcoma -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 16 -MONDO:0014268 combined immunodeficiency due to OX40 deficiency DOID:0111935 MONDO:equivalentTo immunodeficiency 16 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to ox40 deficiency -MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency DOID:0060018 MONDO:equivalentTo CD3gamma deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cd3gamma deficiency -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 22 -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lck deficiency -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to lymphocyte-specific protein tyrosine kinase deficiency -MONDO:0014334 severe combined immunodeficiency due to LCK deficiency DOID:0111937 MONDO:equivalentTo immunodeficiency 22 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to lck deficiency -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 24 -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to ctps1 deficiency -MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency DOID:0111938 MONDO:equivalentTo immunodeficiency 24 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to ctps1 deficiency -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 26, with or without neurologic abnormalities -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym scid due to dna-pkcs deficiency -MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency DOID:0111961 MONDO:equivalentTo immunodeficiency 26 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to dna-pkcs deficiency -MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency DOID:0112134 MONDO:equivalentTo severe congenital neutropenia 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to jagn1 deficiency -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym lgmd due to pomk deficiency -MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym limb-girdle muscular dystrophy due to pomk deficiency -MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hyperphalangy-clinodactyly of index finger with pierre robin syndrome -MONDO:0014507 Catel-Manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym micrognathia digital syndrome -MONDO:0014622 isolated focal non-epidermolytic palmoplantar keratoderma DOID:0111708 MONDO:equivalentTo focal nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym isolated focal non-epidermolytic palmoplantar keratoderma -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autoimmune interstitial lung disorder-arthritis syndrome -MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym copa syndrome -MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym dock2 deficiency -MONDO:0014637 DOCK2 deficiency DOID:0111951 MONDO:equivalentTo immunodeficiency 40 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 40 -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive msmd due to complete rorgamma receptor defiency -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym autosomal recessive primary immunodeficiency due to rorc mutation -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 42 -MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency DOID:0111940 MONDO:equivalentTo immunodeficiency 42 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive mendelian susceptibility to mycobacterial disorders due to complete rorgamma receptor deficiency -MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym tfrc-related combined immunodeficiency -MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 46 -MONDO:0014760 TFRC-related combined immunodeficiency DOID:0111948 MONDO:equivalentTo immunodeficiency 46 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cid due to tfrc deficiency -MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency DOID:0112129 MONDO:equivalentTo severe congenital neutropenia 7 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive severe congenital neutropenia due to csf3r deficiency -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, hypomaturation type, iia6 -MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 DOID:0080762 MONDO:equivalentTo autosomal recessive limb-girdle muscular dystrophy type 2Z semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label autosomal recessive limb-girdle muscular dystrophy type 2z -MONDO:0015008 amelogenesis imperfecta, type 1J DOID:0080953 MONDO:equivalentTo amelogenesis imperfecta type 1J semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym amelogenesis imperfecta, type ij -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal arthrogryposis type 1 -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym digitotalar dysmorphism -MONDO:0015240 digitotalar dysmorphism DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym digitotalar dysmorphism -MONDO:0015408 diffuse lymphatic malformation DOID:0081031 MONDO:equivalentTo generalized lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label generalized lymphatic anomaly -MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label van esch-o'driscoll syndrome -MONDO:0015601 X-linked intellectual disability, van Esch type DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked intellectual disability, van esch type -MONDO:0015746 male infertility due to globozoospermia DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to globozoospermia -MONDO:0015746 male infertility due to globozoospermia DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym male infertility due to globozoospermia -MONDO:0015746 male infertility due to globozoospermia DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym male infertility due to round-headed spermatozoa -MONDO:0016642 meningioma DOID:0080842 MONDO:equivalentTo intracranial meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma MONDO:0016715 ependymoblastoma DOID:0081286 MONDO:equivalentTo embryonal tumor with multilayered rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes -MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label rosette-forming glioneuronal tumor -MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym opitz g/bbb syndrome -MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym opitz g/bbb syndrome -MONDO:0017138 Opitz G/BBB syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label opitz gbbb syndrome -MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system DOID:0081313 MONDO:equivalentTo primary diffuse large B-cell lymphoma of the central nervous system semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label primary diffuse large b-cell lymphoma of the central nervous system -MONDO:0017607 caudal regression sequence DOID:0080700 MONDO:equivalentTo caudal regression syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym caudal regression sequence -MONDO:0017858 acute erythroid leukemia DOID:0080916 MONDO:equivalentTo erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia -MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations DOID:0081095 MONDO:equivalentTo acute myeloid leukemia with mutated CEBPA semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with mutated cebpa MONDO:0018433 acute myeloid leukemia with t(6;9)(p23;q34) DOID:0081080 MONDO:equivalentTo acute myeloid leukemia with t(6;9) (p23;q34.1) semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute myeloid leukemia with t(6;9)(p23;q34) -MONDO:0018589 AApoAIV amyloidosis DOID:0080927 MONDO:equivalentTo apolipoprotein A-IV associated amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym aapoaiv amyloidosis -MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ah amyloidosis -MONDO:0018613 AH amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym heavy chain amyloidosis MONDO:0018821 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability DOID:0112025 MONDO:equivalentTo female-restricted syndromic X-linked intellectual disability 99 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability -MONDO:0018865 striate palmoplantar keratoderma DOID:0081105 MONDO:equivalentTo keratosis palmoplantaris striata semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label keratosis palmoplantaris striata -MONDO:0018871 acute myelomonocytic leukemia M4 DOID:0081082 MONDO:equivalentTo acute myelomonocytic leukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myelomonocytic leukemia -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym x-linked mcleod syndrome -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mcleod syndrome -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mcleod syndrome with or without chronic granulomatous disorder -MONDO:0018945 McLeod neuroacanthocytosis syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym mcleod neuroacanthocytosis syndrome -MONDO:0018948 multiminicore myopathy DOID:0080991 MONDO:equivalentTo multiminicore disease semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label multiminicore disorder -MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym inclusion body myopathy type 3 -MONDO:0019438 AL amyloidosis DOID:0080933 MONDO:equivalentTo immunoglobulin light chain amyloidosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym al amyloidosis -MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome a -MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 1 -MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type i -MONDO:0019569 Cockayne syndrome type 1 DOID:0080907 MONDO:equivalentTo Cockayne syndrome A semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 1 -MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cockayne syndrome b -MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type 2 -MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cockayne syndrome type ii -MONDO:0019570 Cockayne syndrome type 2 DOID:0080908 MONDO:equivalentTo Cockayne syndrome B semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym cockayne syndrome type 2 MONDO:0019976 dementia pugilistica DOID:0081291 MONDO:equivalentTo chronic traumatic encephalopathy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label chronic traumatic encephalopathy -MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy DOID:0081119 MONDO:equivalentTo benign familial infantile seizures 6 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal dominant nocturnal frontal lobe epilepsy -MONDO:0020320 acute myeloblastic leukemia with maturation DOID:0081087 MONDO:equivalentTo acute myeloid leukemia with maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukemia with maturation -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 DOID:0112275 MONDO:equivalentTo developmental and epileptic encephalopathy 93 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 93 -MONDO:0020716 familial thyroid dyshormonogenesis 1 DOID:0112185 MONDO:equivalentTo thyroid dyshormonogenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label thyroid dyshormonogenesis type 1 -MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1b -MONDO:0020791 corneal dystrophy, Meesmann, 1 DOID:0080670 MONDO:equivalentTo Meesmann corneal dystrophy 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 1 -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency DOID:0111984 MONDO:equivalentTo immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym severe combined immunodeficiency due to carmil2 deficiency -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency DOID:0111984 MONDO:equivalentTo immunodeficiency 58 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label immunodeficiency type 58 -MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym muscular dystrophy-dystroglycanopathy (limb-girdle) type c, type 8 -MONDO:0029138 developmental and epileptic encephalopathy, 67 DOID:0112203 MONDO:equivalentTo developmental and epileptic encephalopathy 67 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 67 -MONDO:0030009 alopecia-intellectual disability syndrome 4 DOID:0080950 MONDO:equivalentTo alopecia-mental retardation syndrome 4 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label alopecia-mental retardation syndrome type 4 -MONDO:0030054 developmental and epileptic encephalopathy, 86 DOID:0112220 MONDO:equivalentTo developmental and epileptic encephalopathy 86 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 86 -MONDO:0030059 developmental and epileptic encephalopathy, 87 DOID:0112221 MONDO:equivalentTo developmental and epileptic encephalopathy 87 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 87 -MONDO:0030072 developmental and epileptic encephalopathy, 88 DOID:0112222 MONDO:equivalentTo developmental and epileptic encephalopathy 88 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 88 -MONDO:0030861 osteogenesis imperfecta, type 21 DOID:0112201 MONDO:equivalentTo osteogenesis imperfecta type 21 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label osteogenesis imperfecta type 21 -MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 18 -MONDO:0030939 premature ovarian failure 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 18 -MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym premature ovarian failure type 19 -MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym premature ovarian failure type 19 -MONDO:0030985 premature ovarian failure 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pof19 -MONDO:0031043 lymphatic malformation 12 DOID:0081030 MONDO:equivalentTo central conducting lymphatic anomaly semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label central conducting lymphatic anomaly -MONDO:0031421 Olmsted syndrome DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome -MONDO:0032598 developmental and epileptic encephalopathy, 68 DOID:0112204 MONDO:equivalentTo developmental and epileptic encephalopathy 68 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 68 -MONDO:0032643 pontocerebellar hypoplasia, type 12 DOID:0112327 MONDO:equivalentTo pontocerebellar hypoplasia type 12 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym coasy-related pontocerebellar hypoplasia -MONDO:0032657 developmental and epileptic encephalopathy, 69 DOID:0112205 MONDO:equivalentTo developmental and epileptic encephalopathy 69 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 69 -MONDO:0032663 developmental and epileptic encephalopathy, 70 DOID:0112206 MONDO:equivalentTo developmental and epileptic encephalopathy 70 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 70 -MONDO:0032678 developmental and epileptic encephalopathy, 71 DOID:0112207 MONDO:equivalentTo developmental and epileptic encephalopathy 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 71 -MONDO:0032710 developmental and epileptic encephalopathy, 72 DOID:0112208 MONDO:equivalentTo developmental and epileptic encephalopathy 72 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 72 -MONDO:0032725 developmental and epileptic encephalopathy, 74 DOID:0112210 MONDO:equivalentTo developmental and epileptic encephalopathy 74 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 74 -MONDO:0032752 developmental and epileptic encephalopathy, 75 DOID:0112211 MONDO:equivalentTo developmental and epileptic encephalopathy 75 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 75 -MONDO:0032768 developmental and epileptic encephalopathy, 76 DOID:0112212 MONDO:equivalentTo developmental and epileptic encephalopathy 76 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 76 -MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity DOID:0111997 MONDO:equivalentTo immunodeficiency 63 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 63 with lymphoproliferation and autoimmunity -MONDO:0032812 developmental and epileptic encephalopathy, 78 DOID:0112214 MONDO:equivalentTo developmental and epileptic encephalopathy 78 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 78 -MONDO:0032813 developmental and epileptic encephalopathy, 79 DOID:0112215 MONDO:equivalentTo developmental and epileptic encephalopathy 79 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 79 -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym central hypothyroidism due to trh receptor deficiency -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym resistance to thyrotropin-releasing hormone syndrome -MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym trh resistance syndrome -MONDO:0032822 developmental and epileptic encephalopathy, 80 DOID:0112216 MONDO:equivalentTo developmental and epileptic encephalopathy 80 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 80 -MONDO:0032858 developmental and epileptic encephalopathy, 81 DOID:0112217 MONDO:equivalentTo developmental and epileptic encephalopathy 81 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 81 -MONDO:0032880 developmental and epileptic encephalopathy, 82 DOID:0080715 MONDO:equivalentTo developmental and epileptic encephalopathy 82 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 82 -MONDO:0032895 developmental and epileptic encephalopathy, 83 DOID:0112218 MONDO:equivalentTo developmental and epileptic encephalopathy 83 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 83 -MONDO:0032904 corneal dystrophy, Meesmann, 2 DOID:0080671 MONDO:equivalentTo Meesmann corneal dystrophy 2 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label meesmann corneal dystrophy type 2 -MONDO:0032918 developmental and epileptic encephalopathy, 84 DOID:0112219 MONDO:equivalentTo developmental and epileptic encephalopathy 84 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 84 -MONDO:0033551 immunodeficiency 72 with autoinflammation DOID:0112015 MONDO:equivalentTo immunodeficiency 72 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym immunodeficiency type 72 with autoinflammation -MONDO:0034106 developmental and epileptic encephalopathy, 73 DOID:0112209 MONDO:equivalentTo developmental and epileptic encephalopathy 73 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label developmental and epileptic encephalopathy type 73 -MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym chronic idiopathic urticaria -MONDO:0044725 combined immunodeficiency due to GINS1 deficiency DOID:0111993 MONDO:equivalentTo immunodeficiency 55 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym combined immunodeficiency due to gins1 deficiency -MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 5, multiple types -MONDO:0054601 pituitary adenoma 5, multiple types DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 5, multiple types -MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pituitary adenoma type 3, multiple types -MONDO:0054665 pituitary adenoma 3, multiple types DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym pituitary adenoma type 3, multiple types -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym immunodeficiency type 71 with inflammatory disorder and congenital thrombocytopenia -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder -MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease DOID:0112004 MONDO:equivalentTo immunodeficiency 71 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym platelet abnormalities with eosinophilia and immune-mediated inflammatory disorder -MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques -MONDO:0100296 Olmsted syndrome 1 DOID:0112013 MONDO:equivalentTo autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym olmsted syndrome type 1 -MONDO:0100296 Olmsted syndrome 1 DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym palmoplantar and periorificial keratoderma -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label distal spinal muscular atrophy type 5 -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hereditary motor neuropathy type v -MONDO:0100350 neuronopathy, distal hereditary motor, type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym distal hmn v +MONDO:0044212 chronic idiopathic urticaria DOID:0080749 MONDO:equivalentTo chronic spontaneous urticaria semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym chronic idiopathic urticaria diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index 8054b60a..d25c7d8f 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -1,38 +1,13 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source -MONDO:0006372 pituicytoma DOID:0081280 MONDO:equivalentTo pituicytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pituicytoma -MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A DOID:0081321 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label contractures, pterygia, and spondylocarpotarsal fusion syndrome type 1a -MONDO:0008519 multiple synostoses syndrome 1 DOID:0081317 MONDO:equivalentTo multiple synostoses syndrome 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 1 -MONDO:0008676 white sponge nevus 1 DOID:0081287 MONDO:equivalentTo white sponge nevus 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 1 -MONDO:0008803 Antley-Bixler syndrome DOID:0081289 MONDO:equivalentTo Antley-Bixler syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antley-bixler syndrome -MONDO:0009329 pulmonary venoocclusive disease 2 DOID:0081269 MONDO:equivalentTo pulmonary venoocclusive disease 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 2 -MONDO:0011327 neuronal intranuclear inclusion disease DOID:0081294 MONDO:equivalentTo neuronal intranuclear inclusion disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neuronal intranuclear inclusion disorder -MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis DOID:0111894 MONDO:equivalentTo Diamond-Blackfan anemia 15 with mandibulofacial dysostosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diamond-blackfan anemia type 15 with mandibulofacial dysostosis -MONDO:0011814 Smith-McCort dysplasia 1 DOID:0081270 MONDO:equivalentTo Smith-McCort dysplasia 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 1 -MONDO:0012394 multiple synostoses syndrome 2 DOID:0081318 MONDO:equivalentTo multiple synostoses syndrome 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 2 -MONDO:0013064 multiple synostoses syndrome 3 DOID:0081319 MONDO:equivalentTo multiple synostoses syndrome 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 3 -MONDO:0013505 spermatogenic failure 9 DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spermatogenic failure type 9 -MONDO:0013967 peroxisome biogenesis disorder 14B DOID:0081274 MONDO:equivalentTo peroxisome biogenesis disorder 14B semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label peroxisome biogenesis disorder type 14b -MONDO:0014087 Smith-McCort dysplasia 2 DOID:0081271 MONDO:equivalentTo Smith-McCort dysplasia 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label smith-mccort dysplasia type 2 -MONDO:0014150 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:equivalentTo developmental and epileptic encephalopathy 94 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label developmental and epileptic encephalopathy type 94 -MONDO:0014346 white sponge nevus 2 DOID:0081288 MONDO:equivalentTo white sponge nevus 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label white sponge nevus type 2 -MONDO:0015760 T-cell non-Hodgkin lymphoma DOID:0081312 MONDO:equivalentTo T-cell non-Hodgkin lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label t-cell non-hodgkin lymphoma -MONDO:0016727 extraventricular neurocytoma DOID:0081314 MONDO:equivalentTo extraventricular neurocytoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label extraventricular neurocytoma -MONDO:0016735 papillary glioneuronal tumor DOID:0081283 MONDO:equivalentTo papillary glioneuronal tumor semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label papillary glioneuronal tumor -MONDO:0019091 bronchopulmonary dysplasia DOID:11650 MONDO:equivalentTo bronchopulmonary dysplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label bronchopulmonary dysplasia -MONDO:0019466 lymphomatoid granulomatosis DOID:0081307 MONDO:equivalentTo lymphomatoid granulomatosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label lymphomatoid granulomatosis -MONDO:0020324 intravascular large B-cell lymphoma DOID:0081311 MONDO:equivalentTo intravascular large B-cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular large b-cell lymphoma -MONDO:0020713 pulmonary venoocclusive disease 1 DOID:0081268 MONDO:equivalentTo pulmonary venoocclusive disease 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pulmonary venoocclusive disorder type 1 -MONDO:0020793 oculopharyngodistal myopathy 1 DOID:0081297 MONDO:equivalentTo oculopharyngodistal myopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 1 -MONDO:0021009 salivary gland mucoepidermoid carcinoma DOID:0081293 MONDO:equivalentTo salivary gland mucoepidermoid carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label salivary gland mucoepidermoid carcinoma -MONDO:0023671 oculopharyngodistal myopathy 3 DOID:0081299 MONDO:equivalentTo oculopharyngodistal myopathy 3 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 3 -MONDO:0025193 oculopharyngodistal myopathy DOID:0081296 MONDO:equivalentTo oculopharyngodistal myopathy semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy -MONDO:0030134 oculopharyngodistal myopathy 2 DOID:0081298 MONDO:equivalentTo oculopharyngodistal myopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 2 -MONDO:0030712 oculopharyngodistal myopathy 4 DOID:0081300 MONDO:equivalentTo oculopharyngodistal myopathy 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oculopharyngodistal myopathy type 4 -MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081265 MONDO:equivalentTo intellectual developmental disorder with abnormal behavior, microcephaly, and short stature semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with abnormal behavior, microcephaly, and short stature -MONDO:0032842 Siddiqi syndrome DOID:0081273 MONDO:equivalentTo Siddiqi syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label siddiqi syndrome -MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0081266 MONDO:equivalentTo pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures -MONDO:0032926 sandestig-stefanova syndrome DOID:0081272 MONDO:equivalentTo Sandestig-Stefanova syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sandestig-stefanova syndrome -MONDO:0054752 multiple synostoses syndrome 4 DOID:0081320 MONDO:equivalentTo multiple synostoses syndrome 4 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple synostoses syndrome type 4 -MONDO:0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities -MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 MONDO:equivalentTo neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures +MONDO:0002413 glycogen storage disease I DOID:0081329 MONDO:equivalentTo glycogen storage disease I semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disorder i +MONDO:0009288 glycogen storage disease Ib DOID:0081330 MONDO:equivalentTo glycogen storage disease Ib semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glycogen storage disorder ib +MONDO:0009910 Wiedemann-Rautenstrauch syndrome DOID:0081333 MONDO:equivalentTo Wiedemann-Rautenstrauch syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label wiedemann-rautenstrauch syndrome +MONDO:0013523 Nestor-Guillermo progeria syndrome DOID:0081334 MONDO:equivalentTo Nestor-Guillermo progeria syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label nestor-guillermo progeria syndrome +MONDO:0015333 progeroid syndrome DOID:0081332 MONDO:equivalentTo progeroid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label progeroid syndrome +MONDO:0030781 restrictive dermopathy 2 DOID:0070370 MONDO:equivalentTo restrictive dermopathy 2 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy type 2 +MONDO:0800042 restrictive dermopathy 1 DOID:0070369 MONDO:equivalentTo restrictive dermopathy 1 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label restrictive dermopathy type 1 +MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081262 MONDO:equivalentTo intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies +MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID:0081324 MONDO:equivalentTo neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss +MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0081301 MONDO:equivalentTo intellectual developmental disorder with ocular anomalies and distinctive facial features semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intellectual developmental disorder with ocular anomalies and distinctive facial features +MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia DOID:0081275 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label neurodevelopmental disorder with eye movement abnormalities and ataxia diff --git a/src/ontology/lexmatch/unmapped_ncit_lex.tsv b/src/ontology/lexmatch/unmapped_ncit_lex.tsv index 50e5eea7..16b47705 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex.tsv @@ -24,8 +24,8 @@ MONDO:0002181 exostosis NCIT:C139151 MONDO:equivalentTo Osteophyte semapv:Lexica MONDO:0002485 breast neuroendocrine neoplasm NCIT:C175610 MONDO:equivalentTo Breast Neuroendocrine Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label breast neuroendocrine tumor MONDO:0002870 tricuspid valve insufficiency NCIT:C50843 MONDO:equivalentTo Tricuspid Valve Regurgitation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tricuspid valve regurgitation MONDO:0002877 cervical carcinosarcoma NCIT:C40226 MONDO:equivalentTo Cervical Mixed Epithelial and Mesenchymal Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cervical mixed epithelial and mesenchymal neoplasm -MONDO:0002928 carcinosarcoma NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor MONDO:0002928 carcinosarcoma NCIT:C8975 MONDO:equivalentTo Malignant Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant mixed mesodermal (mullerian) tumor +MONDO:0002928 carcinosarcoma NCIT:C3730 MONDO:equivalentTo Mixed Mesodermal (Mullerian) Tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label mixed mesodermal (mullerian) tumor MONDO:0003531 papillary eccrine carcinoma NCIT:C27527 MONDO:equivalentTo Tubular Apocrine Adenoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label tubular apocrine adenoma MONDO:0003649 esophageal neuroendocrine tumor NCIT:C5821 MONDO:equivalentTo Esophageal Neuroendocrine Neoplasm semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label esophageal neuroendocrine neoplasm MONDO:0003652 acute urate nephropathy NCIT:C123245 MONDO:equivalentTo Uric Acid Urolithiasis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label uric acid urolithiasis @@ -117,13 +117,11 @@ MONDO:0014955 RCBTB1-related retinopathy NCIT:C164155 MONDO:equivalentTo Retinal MONDO:0015031 extraneural perineurioma NCIT:C6912 MONDO:equivalentTo Soft Tissue Perineurioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label soft tissue perineurioma MONDO:0015474 cryptosporidiosis NCIT:C35591 MONDO:equivalentTo Cryptosporidial Gastroenteritis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label cryptosporidial gastroenteritis MONDO:0015686 primary peritoneal carcinoma NCIT:C4182 MONDO:equivalentTo Serous Surface Papillary Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label serous surface papillary carcinoma -MONDO:0016642 meningioma NCIT:C4656 MONDO:equivalentTo Intracranial Meningioma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label intracranial meningioma MONDO:0016668 sickle cell-beta-thalassemia disease syndrome NCIT:C81288 MONDO:equivalentTo S-Beta Thalassemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label s-beta thalassemia MONDO:0016715 ependymoblastoma NCIT:C186534 MONDO:equivalentTo Embryonal Tumor with Multilayered Rosettes semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label embryonal tumor with multilayered rosettes MONDO:0016824 infantile myofibromatosis NCIT:C27498 MONDO:equivalentTo Infantile Hemangiopericytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label infantile hemangiopericytoma MONDO:0017376 reactive arthritis NCIT:C34975 MONDO:equivalentTo Reiter Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label reiter syndrome MONDO:0017615 benign familial infantile epilepsy NCIT:C183308 MONDO:equivalentTo Benign Familial Infantile Seizures semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label benign familial infantile seizures -MONDO:0017858 acute erythroid leukemia NCIT:C7152 MONDO:equivalentTo Erythroleukemia semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythroleukemia MONDO:0017884 papillary renal cell carcinoma NCIT:C27890 MONDO:equivalentTo Sporadic Papillary Renal Cell Carcinoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sporadic papillary renal cell carcinoma MONDO:0018071 trisomy 18 NCIT:C101362 MONDO:equivalentTo Complete Trisomy 18 Syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label complete trisomy type 18 syndrome MONDO:0018369 immature ovarian teratoma NCIT:C39995 MONDO:equivalentTo Malignant Ovarian Teratoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant ovarian teratoma diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index b8742484..350e0d53 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -8,3 +8,4 @@ MONDO:0032526 spinocerebellar ataxia 48 Orphanet:631103 MONDO:equivalentTo Spino MONDO:0033479 spinocerebellar ataxia 44 Orphanet:631095 MONDO:equivalentTo Spinocerebellar ataxia type 44 semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label spinocerebellar ataxia type 44 MONDO:0851095 KINSSHIP syndrome Orphanet:632603 MONDO:equivalentTo Horseshoe kidney-Nievergelt/Savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym kinsship syndrome MONDO:0859150 BDV syndrome Orphanet:633028 MONDO:equivalentTo CPE-related Prader-Willi-like syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym bdv syndrome +MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency Orphanet:633099 MONDO:equivalentTo PAICS deficiency semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym phosphoribosylaminoimidazole carboxylase deficiency diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 8bdcdd6d..224dffa5 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 25, "annotation_property_count_incl": 25, - "axiom_count": 106474, - "axiom_count_incl": 106474, - "class_count": 12738, - "class_count_incl": 12738, + "axiom_count": 106567, + "axiom_count_incl": 106567, + "class_count": 12754, + "class_count_incl": 12754, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "C", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 15508, - "logical_axiom_count_incl": 15508, + "logical_axiom_count": 15531, + "logical_axiom_count_incl": 15531, "obj_property_count": 2, "obj_property_count_incl": 2, - "ontology_anno_count": 10, + "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 12767, - "signature_entity_count_incl": 12767, + "signature_entity_count": 12783, + "signature_entity_count_incl": 12783, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 15508, - "tbox_axiom_count_incl": 15508, - "tboxrbox_axiom_count": 15508, - "tboxrbox_axiom_count_incl": 15508, + "tbox_axiom_count": 15531, + "tbox_axiom_count_incl": 15531, + "tboxrbox_axiom_count": 15531, + "tboxrbox_axiom_count_incl": 15531, "axiom_types": [ "AnnotationAssertion", "DisjointClasses", @@ -65,22 +65,22 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 78203, + "AnnotationAssertion": 78257, "DisjointClasses": 26, - "Declaration": 12763, - "SubClassOf": 15482 + "Declaration": 12779, + "SubClassOf": 15505 }, "axiom_type_count_incl": { - "AnnotationAssertion": 78203, + "AnnotationAssertion": 78257, "DisjointClasses": 26, - "Declaration": 12763, - "SubClassOf": 15482 + "Declaration": 12779, + "SubClassOf": 15505 }, "class_expression_count": { - "Class": 43914 + "Class": 43976 }, "class_expression_count_incl": { - "Class": 43914 + "Class": 43976 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -107,21 +107,21 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 58471, - "owl": 2474, - "DOID": 42393, - "HP": 106, - "skos": 262, + "oboInOwl": 58504, + "owl": 2476, + "DOID": 42447, + "HP": 108, + "skos": 272, "CL": 60, - "rdfs": 18157, + "rdfs": 18166, "BFO": 2, "FOODON": 24, - "NCBITaxon": 318, + "NCBITaxon": 319, "TRANS": 13, - "SYMP": 301, + "SYMP": 306, "dc11": 2, - "rdf": 2021, - "IAO": 2052, + "rdf": 2029, + "IAO": 2060, "CHEBI": 90, "UBERON": 391, "SO": 17, @@ -130,21 +130,21 @@ "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 58471, - "owl": 2474, - "DOID": 42393, - "HP": 106, - "skos": 262, + "oboInOwl": 58504, + "owl": 2476, + "DOID": 42447, + "HP": 108, + "skos": 272, "CL": 60, - "rdfs": 18157, + "rdfs": 18166, "BFO": 2, "FOODON": 24, - "NCBITaxon": 318, + "NCBITaxon": 319, "TRANS": 13, - "SYMP": 301, + "SYMP": 306, "dc11": 2, - "rdf": 2021, - "IAO": 2052, + "rdf": 2029, + "IAO": 2060, "CHEBI": 90, "UBERON": 391, "SO": 17, @@ -155,17 +155,17 @@ "namespace_entity_count": { "oboInOwl": 11, "owl": 2, - "DOID": 11217, - "HP": 106, + "DOID": 11225, + "HP": 108, "xsd": 1, "CL": 60, "skos": 5, "BFO": 2, "rdfs": 2, "FOODON": 24, - "NCBITaxon": 318, + "NCBITaxon": 319, "TRANS": 13, - "SYMP": 301, + "SYMP": 306, "dc11": 2, "rdf": 1, "CHEBI": 90, @@ -179,17 +179,17 @@ "namespace_entity_count_incl": { "oboInOwl": 11, "owl": 2, - "DOID": 11217, - "HP": 106, + "DOID": 11225, + "HP": 108, "xsd": 1, "CL": 60, "skos": 5, "BFO": 2, "rdfs": 2, "FOODON": 24, - "NCBITaxon": 318, + "NCBITaxon": 319, "TRANS": 13, - "SYMP": 301, + "SYMP": 306, "dc11": 2, "rdf": 1, "CHEBI": 90, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 007bab71..4804b959 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 5c3ba1c0..0567761b 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index c6e7c4c6..298dda06 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 078c4504..89bb0164 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 6, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index eeea3ab4..eeb74b96 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 3, "ontology_anno_count": 0, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-03-29/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2023-04-05/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index 9f9d5ab0..f879c529 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -2041,6 +2041,9 @@ + + + @@ -3302,6 +3305,13 @@ + + + + + + + @@ -3512,7 +3522,6 @@ - @@ -8090,7 +8099,6 @@ - @@ -11479,6 +11487,7 @@ + @@ -11499,6 +11508,7 @@ + @@ -11672,6 +11682,7 @@ + @@ -12032,6 +12043,7 @@ + @@ -12062,6 +12074,7 @@ + @@ -12090,6 +12103,7 @@ + @@ -12269,6 +12283,7 @@ + @@ -12316,6 +12331,7 @@ + diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv index e36d6865..469c9cb5 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv @@ -7,6 +7,7 @@ DOID:0050068 obsolete pestis minor True False True True DOID:5532 obsolete ovarian squamous cell neoplasm True False True True DOID:2088 obsolete outlet dysfunction constipation True False True True DOID:0080088 obsolete nonsyndromic congenital nail disorder 10 True False True True +DOID:2848 obsolete melancholia True False True True DOID:0050747 obsolete lymphoplasmacytic lymphoma True False True True DOID:6496 obsolete extraskeletal myxoid chondrosarcoma True False True True DOID:9370 obsolete exophthalmos True False True True @@ -19,6 +20,7 @@ DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B True False True True DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A True False True True DOID:0110631 obsolete arthrogryposis due to muscular dystrophy True False True True +DOID:0110071 obsolete arrhythmogenic right ventricular dysplasia 2 True False True True DOID:0060208 obsolete amyotrophic lateral sclerosis type 17 True False True True DOID:6495 obsolete adult myxoid chondrosarcoma True False True True DOID:715 obsolete T-cell lymphoblastic leukemia/lymphoma True False True True diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv index 3b96aea0..f592dc7e 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -26 0.0019 +28 0.002 diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv index f60fbae5..f333720c 100644 --- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv @@ -508,6 +508,7 @@ DOID:0080713 MONDO:excludeNonDisease DOID:0080783 MONDO:excludeNonDisease DOID:0081062 MONDO:excludeNonDisease DOID:0090121 MONDO:excludeNonDisease +DOID:0110071 MONDO:excludeNonDisease DOID:0110172 MONDO:excludeNonDisease DOID:0110286 MONDO:excludeNonDisease DOID:0110300 MONDO:excludeNonDisease @@ -1404,6 +1405,7 @@ DOID:280 MONDO:excludeNonDisease DOID:2809 MONDO:excludeNonDisease DOID:283 MONDO:excludeNonDisease DOID:284 MONDO:excludeNonDisease +DOID:2848 MONDO:excludeNonDisease DOID:2853 MONDO:excludeNonDisease DOID:2857 MONDO:excludeNonDisease DOID:287 MONDO:excludeNonDisease diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv index c5554a51..c08c534e 100644 --- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv @@ -7,6 +7,7 @@ MONDO:0000501 DOID:0050867 MONDO:equivalentObsolete MONDO:0002063 DOID:1634 MONDO:equivalentObsolete MONDO:0002202 DOID:2088 MONDO:equivalentObsolete MONDO:0002203 DOID:2089 MONDO:equivalentObsolete +MONDO:0002444 DOID:2848 MONDO:equivalentObsolete MONDO:0002633 DOID:338 MONDO:equivalentObsolete MONDO:0003495 DOID:5532 MONDO:equivalentObsolete MONDO:0003723 DOID:5996 MONDO:equivalentObsolete @@ -18,6 +19,7 @@ MONDO:0005525 DOID:715 MONDO:equivalentObsolete MONDO:0008060 DOID:0080088 MONDO:equivalentObsolete MONDO:0009679 DOID:0110631 MONDO:equivalentObsolete MONDO:0010936 DOID:0060208 MONDO:equivalentObsolete +MONDO:0010975 DOID:0110071 MONDO:equivalentObsolete MONDO:0011010 DOID:0050819 MONDO:equivalentObsolete MONDO:0011910 DOID:0110302 MONDO:equivalentObsolete MONDO:0012215 DOID:0110300 MONDO:equivalentObsolete diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index 1dcd8483..25f2f950 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,10 +1,7 @@ subject_id subject_label is_mapped is_excluded is_deprecated DOID:0050192 Nipah virus encephalitis False False False -DOID:0060018 CD3gamma deficiency False False False DOID:0060034 dropped head syndrome False False False DOID:0070020 autosomal dominant dyskeratosis congenita 4 False False False -DOID:0070136 autosomal dominant cutis laxa 2 False False False -DOID:0070212 hereditary lymphedema I False False False DOID:0070310 drug-induced hearing loss False False False DOID:0070311 oligoasthenoteratozoospermia False False False DOID:0070331 mitochondrial DNA depletion syndrome 8b False False False @@ -12,16 +9,15 @@ DOID:0070336 arthrogryposis multiplex congenita-6 False False False DOID:0070341 neonatal-onset type II citrullinemia False False False DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A False False False DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 False False False -DOID:0070355 overactive bladder syndrome False False False +DOID:0070368 autosomal recessive chronic granulomatous disease 5 False False False +DOID:0070369 restrictive dermopathy 1 False False False +DOID:0070370 restrictive dermopathy 2 False False False DOID:0080306 solid adenocarcinoma with mucin production False False False DOID:0080321 autonomic nervous system benign neoplasm False False False DOID:0080371 testicular sex cord-stromal benign neoplasm False False False DOID:0080372 epithelioid inflammatory myofibroblastic sarcoma False False False DOID:0080407 orofacial cleft 14 False False False -DOID:0080492 leukocyte adhesion deficiency 2 False False False DOID:0080511 epidermolysis bullosa simplex generalized type False False False -DOID:0080546 non-alcoholic fatty liver False False False -DOID:0080574 congenital disorder of glycosylation Iy False False False DOID:0080577 polygenic disease False False False DOID:0080578 digenic disease False False False DOID:0080594 hyper IgE recurrent infection syndrome 2 False False False @@ -36,17 +32,11 @@ DOID:0080665 warfarin resistance False False False DOID:0080666 warfarin sensitivity False False False DOID:0080667 spinal muscular atrophy type 0 False False False DOID:0080669 posterior polymorphous corneal dystrophy 4 False False False -DOID:0080670 Meesmann corneal dystrophy 1 False False False -DOID:0080671 Meesmann corneal dystrophy 2 False False False -DOID:0080675 Stickler syndrome 2 False False False -DOID:0080676 Stickler syndrome 1 False False False DOID:0080678 mucolipidosis III gamma False False False DOID:0080684 diffuse midline glioma, H3 K27M-mutant False False False DOID:0080685 aortic dissection False False False DOID:0080686 tubular aggregate myopathy 2 False False False DOID:0080687 reducing body myopathy 1B False False False -DOID:0080697 Opitz GBBB syndrome False False False -DOID:0080700 caudal regression syndrome False False False DOID:0080702 medulloblastoma WNT activated False False False DOID:0080703 medulloblastoma SHH activated False False False DOID:0080704 medulloblastoma SHH activated and TP53 mutant False False False @@ -55,12 +45,7 @@ DOID:0080706 medulloblastoma non-WNT/non-SHH False False False DOID:0080707 medulloblastoma non-WNT/non-SHH group 3 False False False DOID:0080708 medulloblastoma non-WNT/non-SHH group 4 False False False DOID:0080712 gene duplication disease False False False -DOID:0080715 developmental and epileptic encephalopathy 82 False False False -DOID:0080716 infantile liver failure syndrome False False False -DOID:0080719 proximal myopathy and ophthalmoplegia False False False DOID:0080721 calvarial doughnut lesions with bone fragility False False False -DOID:0080722 Kenny-Caffey syndrome type 1 False False False -DOID:0080723 Kenny-Caffey syndrome type 2 False False False DOID:0080725 BASAN syndrome False False False DOID:0080726 Ehlers-Danlos syndrome classic type 2 False False False DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 False False False @@ -83,13 +68,9 @@ DOID:0080750 erythema nodosum False False False DOID:0080752 keratosis pilaris atrophicans faciei False False False DOID:0080754 X-linked keratosis follicularis spinulosa decalvans False False False DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans False False False -DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z False False False -DOID:0080764 hereditary diffuse gastric cancer False False False DOID:0080765 autosomal recessive intellectual developmental disorder 72 False False False DOID:0080769 early-onset vitamin B6-dependent epilepsy False False False -DOID:0080770 autosomal dominant beta thalassemia False False False DOID:0080773 delta beta-thalassemia False False False -DOID:0080778 transient infantile liver failure False False False DOID:0080782 mucinous pancreas adenocarcinoma False False False DOID:0080787 proximal symphalangism 1 False False False DOID:0080788 proximal symphalangism 2 False False False @@ -97,7 +78,6 @@ DOID:0080794 childhood acute megakaryoblastic leukemia False False False DOID:0080796 core binding factor acute myeloid leukemia False False False DOID:0080798 myeloid leukemia associated with Down Syndrome False False False DOID:0080801 autosomal dominant craniometaphyseal dysplasia False False False -DOID:0080802 autosomal recessive craniometaphyseal dysplasia False False False DOID:0080807 autosomal dominant craniodiaphyseal dysplasia False False False DOID:0080809 chronic asthma False False False DOID:0080810 acute asthma False False False @@ -120,13 +100,11 @@ DOID:0080839 X-linked warfarin sensitivity False False False DOID:0080841 pemphigoid False False False DOID:0080842 intracranial meningioma False False False DOID:0080843 supratentorial meningioma False False False -DOID:0080844 omodysplasia 1 False False False DOID:0080845 omodysplasia 2 False False False DOID:0080846 latent autoimmune diabetes in adults False False False DOID:0080854 anaplastic pleomorphic xanthoastrocytoma False False False DOID:0080855 Parkinsonism False False False DOID:0080856 vascular Parkinsonism False False False -DOID:0080857 primary ovarian insufficiency 1 False False False DOID:0080858 primary ovarian insufficiency 2A False False False DOID:0080859 primary ovarian insufficiency 2B False False False DOID:0080860 primary ovarian insufficiency 3 False False False @@ -164,24 +142,15 @@ DOID:0080897 solitary fibrous tumor/hemangiopericytoma False False False DOID:0080900 oral rhabdomyosarcoma False False False DOID:0080904 astroblastoma, MN1-altered False False False DOID:0080906 CNS neuroblastoma with FOXR2 activation False False False -DOID:0080907 Cockayne syndrome A False False False -DOID:0080908 Cockayne syndrome B False False False DOID:0080909 castration-resistant prostate carcinoma False False False -DOID:0080910 cerebrooculofacioskeletal syndrome False False False DOID:0080916 erythroleukemia False False False DOID:0080925 cytochrome P450 oxidoreductase deficiency False False False -DOID:0080927 apolipoprotein A-IV associated amyloidosis False False False DOID:0080930 primary localized cutaneous amyloidosis 1 False False False DOID:0080931 primary localized cutaneous amyloidosis 2 False False False -DOID:0080933 immunoglobulin light chain amyloidosis False False False -DOID:0080934 immunoglobulin heavy chain amyloidosis False False False DOID:0080935 immunoglobulin heavy-and-light chain False False False DOID:0080939 hereditary angioedema type I False False False DOID:0080940 hereditary angioedema type III False False False -DOID:0080950 alopecia-mental retardation syndrome 4 False False False DOID:0080951 alopecia-mental retardation syndrome 3 False False False -DOID:0080953 amelogenesis imperfecta type 1J False False False -DOID:0080960 amelogenesis imperfecta type 2A6 False False False DOID:0080964 intracranial berry aneurysm 1 False False False DOID:0080965 intracranial berry aneurysm 2 False False False DOID:0080966 intracranial berry aneurysm 3 False False False @@ -204,7 +173,6 @@ DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type False Fal DOID:0080986 Ehlers-Danlos syndrome periodontal type 1 False False False DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 False False False DOID:0080990 King Denborough syndrome False False False -DOID:0080991 multiminicore disease False False False DOID:0080992 rhabdomyolysis-myalgia syndrome False False False DOID:0080994 autoimmune epilepsy False False False DOID:0080995 tuberculous encephalopathy False False False @@ -212,7 +180,6 @@ DOID:0080996 diffuse large B-cell lymphoma activated B-cell type False False Fal DOID:0080997 diffuse large B-cell lymphoma germinal center B-cell type False False False DOID:0080998 acute necrotizing pancreatitis False False False DOID:0080999 acute hemorrhagic pancreatitis False False False -DOID:0081007 RNASET2-deficient cystic leukoencephalopathy False False False DOID:0081012 critical COVID-19 False False False DOID:0081013 severe COVID-19 False False False DOID:0081014 non-severe COVID-19 False False False @@ -221,17 +188,12 @@ DOID:0081016 congenital fibrosis of the extraocular muscles 2 False False False DOID:0081017 congenital fibrosis of the extraocular muscles 3A False False False DOID:0081019 congenital fibrosis of the extraocular muscles 3C False False False DOID:0081020 congenital fibrosis of the extraocular muscles 5 False False False -DOID:0081030 central conducting lymphatic anomaly False False False -DOID:0081031 generalized lymphatic anomaly False False False DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria False False False DOID:0081036 mixed phenotype acute leukemia with BCR-ABL1 False False False DOID:0081037 mixed phenotype acute leukemia with MLL rearranged False False False DOID:0081038 mixed phenotype acute leukemia, B/myeloid False False False DOID:0081039 mixed phenotype acute leukemia, T/myeloid False False False DOID:0081043 fetal akinesia deformation sequence syndrome X-linked False False False -DOID:0081045 frontonasal dysplasia 1 False False False -DOID:0081046 frontonasal dysplasia 2 False False False -DOID:0081047 frontonasal dysplasia 3 False False False DOID:0081059 X-linked central diabetes insipidus False False False DOID:0081060 X-linked nephrogenic diabetes insipidus False False False DOID:0081061 nephrogenic diabetes insipidus type 2 False False False @@ -244,34 +206,22 @@ DOID:0081069 A53 diffuse large B-cell lymphoma False False False DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma False False False DOID:0081071 EZB-MYC- diffuse large B-cell lymphoma False False False DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) False False False -DOID:0081081 acute promyelocytic leukemia with PML-RARA False False False -DOID:0081082 acute myelomonocytic leukemia False False False DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) False False False DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) False False False -DOID:0081086 acute myeloid leukemia without maturation False False False -DOID:0081087 acute myeloid leukemia with maturation False False False DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA False False False DOID:0081091 acute myeloid leukemia with mutated RUNX1 False False False DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes False False False DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) False False False DOID:0081094 acute myeloid leukemia with MLL rearrangement False False False -DOID:0081095 acute myeloid leukemia with mutated CEBPA False False False DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) False False False DOID:0081098 autosomal recessive intellectual developmental disorder 13 False False False -DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies False False False -DOID:0081100 spastic paraplegia with deafness False False False -DOID:0081104 hot water epilepsy False False False -DOID:0081105 keratosis palmoplantaris striata False False False DOID:0081106 hot water epilepsy 1 False False False DOID:0081107 hot water epilepsy 2 False False False DOID:0081108 keratosis palmoplantaris striata 1 False False False DOID:0081114 benign familial infantile seizures 1 False False False DOID:0081115 benign familial infantile seizures 2 False False False -DOID:0081116 benign familial infantile seizures 3 False False False DOID:0081117 benign familial infantile seizures 4 False False False DOID:0081118 benign familial infantile seizures 5 False False False -DOID:0081119 benign familial infantile seizures 6 False False False -DOID:0081122 Catel Manzke syndrome False False False DOID:0081123 X-linked mental retardation Gustavson type False False False DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 False False False DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 False False False @@ -366,7 +316,6 @@ DOID:0081237 acromesomelic dysplasia-3 False False False DOID:0081238 acromesomelic dysplasia-4 False False False DOID:0081239 injection anthrax False False False DOID:0081241 peroxisome biogenesis disorder 3B False False False -DOID:0081242 autoimmune interstitial lung, joint, and kidney disease False False False DOID:0081243 rhizomelic chondrodysplasia punctate type 4 False False False DOID:0081244 pituitary blastoma False False False DOID:0081245 cauda equina neuroendocrine tumor False False False @@ -381,100 +330,48 @@ DOID:0081256 astrocytoma, IDH-mutant, grade 2 False False False DOID:0081257 astrocytoma, IDH-mutant, grade 3 False False False DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered False False False DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies False False False -DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities False False False DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome False False False -DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature False False False -DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures False False False -DOID:0081267 graft-versus-host disease False False False -DOID:0081268 pulmonary venoocclusive disease 1 False False False -DOID:0081269 pulmonary venoocclusive disease 2 False False False -DOID:0081270 Smith-McCort dysplasia 1 False False False -DOID:0081271 Smith-McCort dysplasia 2 False False False -DOID:0081272 Sandestig-Stefanova syndrome False False False -DOID:0081273 Siddiqi syndrome False False False -DOID:0081274 peroxisome biogenesis disorder 14B False False False DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia False False False DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation False False False DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype False False False DOID:0081278 infant-type hemispheric glioma False False False DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered False False False -DOID:0081280 pituicytoma False False False DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 False False False DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 False False False -DOID:0081283 papillary glioneuronal tumor False False False -DOID:0081284 rosette-forming glioneuronal tumor False False False DOID:0081285 myxoid glioneuronal tumor False False False DOID:0081286 embryonal tumor with multilayered rosettes False False False -DOID:0081287 white sponge nevus 1 False False False -DOID:0081288 white sponge nevus 2 False False False -DOID:0081289 Antley-Bixler syndrome False False False DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis False False False DOID:0081291 chronic traumatic encephalopathy False False False DOID:0081292 traumatic brain injury False False False -DOID:0081293 salivary gland mucoepidermoid carcinoma False False False -DOID:0081294 neuronal intranuclear inclusion disease False False False DOID:0081295 essential tremor 6 False False False -DOID:0081296 oculopharyngodistal myopathy False False False -DOID:0081297 oculopharyngodistal myopathy 1 False False False -DOID:0081298 oculopharyngodistal myopathy 2 False False False -DOID:0081299 oculopharyngodistal myopathy 3 False False False -DOID:0081300 oculopharyngodistal myopathy 4 False False False DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features False False False DOID:0081302 diffuse leptomeningeal glioneuronal tumor False False False DOID:0081303 multinodular and vacuolating neuronal tumor False False False DOID:0081304 high-grade astrocytoma with piloid features False False False DOID:0081305 polymorphous low grade neuroepithelial tumour of the young False False False DOID:0081306 spindle cell oncocytoma False False False -DOID:0081307 lymphomatoid granulomatosis False False False DOID:0081308 grade I lymphomatoid granulomatosis False False False DOID:0081309 grade II lymphomatoid granulomatosis False False False DOID:0081310 grade III lymphomatoid granulomatosis False False False -DOID:0081311 intravascular large B-cell lymphoma False False False -DOID:0081312 T-cell non-Hodgkin lymphoma False False False -DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system False False False -DOID:0081314 extraventricular neurocytoma False False False DOID:0081315 central nervous system tumor with BCOR internal tandem duplication False False False DOID:0081316 primary intracranial sarcoma, DICER1-mutant False False False -DOID:0081317 multiple synostoses syndrome 1 False False False -DOID:0081318 multiple synostoses syndrome 2 False False False -DOID:0081319 multiple synostoses syndrome 3 False False False -DOID:0081320 multiple synostoses syndrome 4 False False False -DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A False False False -DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B False False False DOID:0081323 breast implant illness False False False DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss False False False -DOID:0081325 developmental and epileptic encephalopathy 94 False False False -DOID:0081326 oxoglutarate dehydrogenase deficiency False False False -DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures False False False -DOID:0111156 spermatogenic failure 9 False False False +DOID:0081328 familial hyperinsulinemic hypoglycemia 8 False False False +DOID:0081329 glycogen storage disease I False False False +DOID:0081330 glycogen storage disease Ib False False False +DOID:0081331 glycogen storage disease Ic False False False +DOID:0081332 progeroid syndrome False False False +DOID:0081333 Wiedemann-Rautenstrauch syndrome False False False +DOID:0081334 Nestor-Guillermo progeria syndrome False False False DOID:0111180 French Canadian Leigh disease False False False -DOID:0111189 distal muscular dystrophy 3 False False False -DOID:0111190 distal muscular dystrophy 4 False False False -DOID:0111203 distal hereditary motor neuronopathy type 5 False False False -DOID:0111214 distal spinal muscular atrophy type 5 False False False DOID:0111223 centronuclear myopathy 1 False False False -DOID:0111224 centronuclear myopathy 4 False False False -DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 False False False -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 False False False -DOID:0111269 autosomal dominant hyaline body myopathy False False False -DOID:0111278 histiocytosis-lymphadenopathy plus syndrome False False False -DOID:0111421 familial apolipoprotein A5 deficiency False False False -DOID:0111444 progressive myoclonus epilepsy 4 False False False DOID:0111452 progressive myoclonus epilepsy 1A False False False DOID:0111576 dehydrated hereditary stomatocytosis 1 False False False -DOID:0111596 distal arthrogryposis type 1 False False False -DOID:0111605 distal arthrogryposis type 2A False False False -DOID:0111607 distal arthrogryposis type 3 False False False -DOID:0111609 distal arthrogryposis type 6 False False False -DOID:0111610 distal arthrogryposis type 4 False False False -DOID:0111664 ectodermal dysplasia 1 False False False -DOID:0111708 focal nonepidermolytic palmoplantar keratoderma False False False DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 False False False DOID:0111721 amelogenesis imperfecta type 3 False False False DOID:0111729 familial episodic pain syndrome 1 False False False DOID:0111731 familial episodic pain syndrome 3 False False False -DOID:0111737 X-linked deafness 2 False False False -DOID:0111741 X-linked deafness 5 False False False DOID:0111790 congenital nystagmus 1 False False False DOID:0111791 congenital nystagmus 7 False False False DOID:0111792 congenital nystagmus 2 False False False @@ -482,25 +379,12 @@ DOID:0111793 congenital nystagmus 3 False False False DOID:0111795 congenital nystagmus 6 False False False DOID:0111796 congenital nystagmus 5 False False False DOID:0111797 autosomal recessive congenital nystagmus False False False -DOID:0111798 X-linked nephrolithiasis type I False False False DOID:0111800 syndromic microphthalmia 12 False False False DOID:0111804 syndromic microphthalmia 11 False False False -DOID:0111805 syndromic microphthalmia 6 False False False -DOID:0111806 syndromic microphthalmia 5 False False False -DOID:0111809 syndromic microphthalmia 2 False False False -DOID:0111811 syndromic microphthalmia 13 False False False -DOID:0111812 syndromic microphthalmia 10 False False False DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis False False False -DOID:0111820 zygodactyly 1 False False False -DOID:0111829 X-linked spinocerebellar ataxia 1 False False False DOID:0111830 X-linked spinocerebellar ataxia 2 False False False -DOID:0111831 X-linked spinocerebellar ataxia 3 False False False -DOID:0111832 X-linked spinocerebellar ataxia 4 False False False -DOID:0111833 X-linked spinocerebellar ataxia 5 False False False DOID:0111835 congenital nongoitrous hypothyroidism 9 False False False -DOID:0111836 congenital nongoitrous hypothyroidism 7 False False False DOID:0111839 congenital disorder of glycosylation Icc False False False -DOID:0111840 Van Esch-O'Driscoll syndrome False False False DOID:0111844 X-linked intellectual developmental disorder 108 False False False DOID:0111847 osteogenesis imperfecta type 19 False False False DOID:0111848 osteogenesis imperfecta type 18 False False False @@ -520,49 +404,17 @@ DOID:0111867 nonphotosensitive trichothiodystrophy False False False DOID:0111868 nonphotosensitive trichothiodystrophy 5 False False False DOID:0111870 nonphotosensitive trichothiodystrophy 7 False False False DOID:0111872 nonphotosensitive trichothiodystrophy 6 False False False -DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis False False False DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency False False False DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency False False False -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation False False False -DOID:0111933 phosphoglycerate kinase 1 deficiency False False False -DOID:0111935 immunodeficiency 16 False False False -DOID:0111937 immunodeficiency 22 False False False -DOID:0111938 immunodeficiency 24 False False False -DOID:0111940 immunodeficiency 42 False False False -DOID:0111943 immunodeficiency 48 False False False -DOID:0111948 immunodeficiency 46 False False False -DOID:0111951 immunodeficiency 40 False False False -DOID:0111957 immunodeficiency 11A False False False -DOID:0111959 immunodeficiency 15B False False False -DOID:0111961 immunodeficiency 26 False False False DOID:0111964 B cell and dendritic cell deficiency False False False DOID:0111965 T cell, B cell, and NK cell deficiency False False False DOID:0111966 monocyte, dendritic cell, and NK cell deficiency False False False -DOID:0111967 immunodeficiency 54 False False False -DOID:0111968 immunodeficiency 41 False False False -DOID:0111970 immunodeficiency 10 False False False -DOID:0111974 immunodeficiency 59 False False False -DOID:0111976 immunodeficiency 9 False False False DOID:0111981 immunodeficiency 43 False False False DOID:0111982 immunodeficiency 56 False False False -DOID:0111984 immunodeficiency 58 False False False -DOID:0111986 immunodeficiency 32A False False False -DOID:0111988 immunodeficiency 12 False False False -DOID:0111990 immunodeficiency 30 False False False -DOID:0111993 immunodeficiency 55 False False False -DOID:0111997 immunodeficiency 63 False False False -DOID:0112000 immunodeficiency 34 False False False -DOID:0112001 immunodeficiency 50 False False False -DOID:0112004 immunodeficiency 71 False False False DOID:0112007 growth hormone secreting pituitary adenoma 2 False False False -DOID:0112008 pituitary adenoma 5 False False False DOID:0112009 pituitary adenoma 1 False False False -DOID:0112010 pituitary adenoma 3 False False False -DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques False False False DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques False False False -DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques False False False DOID:0112014 congenital megabladder False False False -DOID:0112015 immunodeficiency 72 False False False DOID:0112016 non-syndromic X-linked intellectual disability 2 False False False DOID:0112017 non-syndromic X-linked intellectual disability 73 False False False DOID:0112018 non-syndromic X-linked intellectual disability 104 False False False @@ -584,11 +436,9 @@ DOID:0112033 non-syndromic X-linked intellectual disability 81 False False False DOID:0112034 non-syndromic X-linked intellectual disability 9 False False False DOID:0112035 non-syndromic X-linked intellectual disability 96 False False False DOID:0112036 non-syndromic X-linked intellectual disability 105 False False False -DOID:0112038 non-syndromic X-linked intellectual disability 1 False False False DOID:0112039 non-syndromic X-linked intellectual disability 77 False False False DOID:0112040 non-syndromic X-linked intellectual disability 100 False False False DOID:0112041 non-syndromic X-linked intellectual disability 90 False False False -DOID:0112042 Tonne-Kalscheuer syndrome False False False DOID:0112043 non-syndromic X-linked intellectual disability 91 False False False DOID:0112044 non-syndromic X-linked intellectual disability 98 False False False DOID:0112045 non-syndromic X-linked intellectual disability 93 False False False @@ -613,7 +463,6 @@ DOID:0112068 nuclear type mitochondrial complex I deficiency 5 False False False DOID:0112069 nuclear type mitochondrial complex I deficiency 22 False False False DOID:0112070 nuclear type mitochondrial complex I deficiency 18 False False False DOID:0112071 nuclear type mitochondrial complex I deficiency 31 False False False -DOID:0112072 nuclear type mitochondrial complex I deficiency 20 False False False DOID:0112073 nuclear type mitochondrial complex I deficiency 9 False False False DOID:0112074 nuclear type mitochondrial complex I deficiency 1 False False False DOID:0112075 nuclear type mitochondrial complex I deficiency 10 False False False @@ -643,17 +492,9 @@ DOID:0112098 nuclear type mitochondrial complex I deficiency 30 False False Fals DOID:0112099 nuclear type mitochondrial complex I deficiency 12 False False False DOID:0112100 mitochondrial type mitochondrial complex I deficiency False False False DOID:0112101 mitochondrial type mitochondrial complex I deficiency 1 False False False -DOID:0112102 Sotos syndrome 2 False False False -DOID:0112107 McLeod syndrome False False False DOID:0112126 Stocco Dos Santos type X-linked intellectual disability False False False -DOID:0112127 HRPT-related hyperuricemia False False False -DOID:0112129 severe congenital neutropenia 7 False False False DOID:0112131 severe congenital neutropenia 2 False False False -DOID:0112132 severe congenital neutropenia 5 False False False -DOID:0112133 severe congenital neutropenia 3 False False False -DOID:0112134 severe congenital neutropenia 6 False False False DOID:0112135 severe congenital neutropenia 8 False False False -DOID:0112136 severe congenital neutropenia 4 False False False DOID:0112138 primary coenzyme Q10 deficiency 9 False False False DOID:0112139 nuclear type mitochondrial complex I deficiency 35 False False False DOID:0112153 hypomyelinating leukodystrophy 20 False False False @@ -666,79 +507,32 @@ DOID:0112167 autosomal dominant nonsyndromic deafness 76 False False False DOID:0112168 autosomal dominant nonsyndromic deafness 77 False False False DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 False False False DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 False False False -DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 False False False -DOID:0112180 urocanase deficiency False False False -DOID:0112185 thyroid dyshormonogenesis 1 False False False DOID:0112190 distal arthrogryposis type 1C False False False -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type False False False -DOID:0112201 osteogenesis imperfecta type 21 False False False -DOID:0112203 developmental and epileptic encephalopathy 67 False False False -DOID:0112204 developmental and epileptic encephalopathy 68 False False False -DOID:0112205 developmental and epileptic encephalopathy 69 False False False -DOID:0112206 developmental and epileptic encephalopathy 70 False False False -DOID:0112207 developmental and epileptic encephalopathy 71 False False False -DOID:0112208 developmental and epileptic encephalopathy 72 False False False -DOID:0112209 developmental and epileptic encephalopathy 73 False False False -DOID:0112210 developmental and epileptic encephalopathy 74 False False False -DOID:0112211 developmental and epileptic encephalopathy 75 False False False -DOID:0112212 developmental and epileptic encephalopathy 76 False False False DOID:0112213 developmental and epileptic encephalopathy 77 False False False -DOID:0112214 developmental and epileptic encephalopathy 78 False False False -DOID:0112215 developmental and epileptic encephalopathy 79 False False False -DOID:0112216 developmental and epileptic encephalopathy 80 False False False -DOID:0112217 developmental and epileptic encephalopathy 81 False False False -DOID:0112218 developmental and epileptic encephalopathy 83 False False False -DOID:0112219 developmental and epileptic encephalopathy 84 False False False -DOID:0112220 developmental and epileptic encephalopathy 86 False False False -DOID:0112221 developmental and epileptic encephalopathy 87 False False False -DOID:0112222 developmental and epileptic encephalopathy 88 False False False -DOID:0112224 chondrodysplasia with joint dislocations gPAPP type False False False DOID:0112225 BH4-deficient hyperphenylalaninemia B False False False -DOID:0112230 lissencephaly 5 False False False DOID:0112236 lissencephaly 6 False False False -DOID:0112238 X-linked lissencephaly 2 False False False DOID:0112242 congenital symmetric circumferential skin creases 1 False False False DOID:0112243 congenital symmetric circumferential skin creases 2 False False False DOID:0112245 focal segmental glomerulosclerosis 3 False False False -DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency False False False -DOID:0112250 Gaucher's disease type IIIC False False False -DOID:0112252 glutathione synthetase deficiency of erythrocytes False False False -DOID:0112253 combined cellular and humoral immune defects with granulomas False False False -DOID:0112258 N-acetylglutamate synthase deficiency False False False -DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy False False False -DOID:0112269 primary ovarian insufficiency 18 False False False DOID:0112272 spermatogenic failure 50 False False False -DOID:0112275 developmental and epileptic encephalopathy 93 False False False -DOID:0112278 primary ovarian insufficiency 19 False False False DOID:0112281 spondyloepiphyseal dysplasia Stanescu type False False False DOID:0112282 spondyloepiphyseal dysplasia Kimberley type False False False DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type False False False -DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda False False False -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech False False False DOID:0112288 spondyloepiphyseal dysplasia Nishimura type False False False DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type False False False DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability False False False -DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda False False False -DOID:0112296 spondylometaphyseal dysplasia Algerian type False False False DOID:0112297 spondylometaphyseal dysplasia corner fracture type False False False DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type False False False -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy False False False DOID:0112301 spondylometaphyseal dysplasia type A4 False False False DOID:0112302 spondylometaphyseal dysplasia East African type False False False DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type False False False -DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism False False False DOID:0112309 central precocious puberty 2 False False False DOID:0112310 central precocious puberty 1 False False False DOID:0112313 brain small vessel disease False False False -DOID:0112314 brain small vessel disease 2 False False False -DOID:0112318 Schindler disease type 1 False False False -DOID:0112319 Kanzaki disease False False False -DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome False False False DOID:0112323 pontocerebellar hypoplasia type 1D False False False DOID:0112324 pontocerebellar hypoplasia type 11 False False False DOID:0112325 pontocerebellar hypoplasia type 14 False False False DOID:0112326 pontocerebellar hypoplasia type 15 False False False -DOID:0112327 pontocerebellar hypoplasia type 12 False False False DOID:0112329 pontocerebellar hypoplasia type 2F False False False DOID:0112330 pontocerebellar hypoplasia type 1E False False False DOID:0112331 pontocerebellar hypoplasia type 1F False False False @@ -749,7 +543,6 @@ DOID:0112340 craniotubular dysplasia Ikegawa type False False False DOID:0112341 hereditary spastic paraplegia 80 False False False DOID:0112342 hereditary spastic paraplegia 86 False False False DOID:0112343 hereditary spastic paraplegia 82 False False False -DOID:0112344 hereditary spastic paraplegia 79 False False False DOID:0112345 hereditary spastic paraplegia 85 False False False DOID:0112346 hereditary spastic paraplegia 83 False False False DOID:0112347 hereditary spastic paraplegia 84 False False False @@ -766,11 +559,7 @@ DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 False False False DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 False False False DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 False False False DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 False False False -DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 False False False -DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 False False False DOID:070355 multisystem proteinopathy False False False -DOID:11166 Human papillomavirus infectious disease False False False -DOID:11650 bronchopulmonary dysplasia False False False DOID:3117 hepatobiliary benign neoplasm False False False DOID:60001 pulmonary artery disease False False False DOID:60004 malignant cystadenoma False False False @@ -3971,6 +3760,7 @@ DOID:0060014 CD45 deficiency True False False DOID:0060015 interleukin-7 receptor alpha deficiency True False False DOID:0060016 CD3delta deficiency True False False DOID:0060017 CD3epsilon deficiency True False False +DOID:0060018 CD3gamma deficiency True False False DOID:0060019 coronin-1A deficiency True False False DOID:0060020 reticular dysgenesis True False False DOID:0060021 DNA ligase IV deficiency True False False @@ -4140,7 +3930,7 @@ DOID:0060201 amyotrophic lateral sclerosis type 10 True False False DOID:0060202 amyotrophic lateral sclerosis type 11 True False False DOID:0060203 amyotrophic lateral sclerosis type 12 True False False DOID:0060204 amyotrophic lateral sclerosis type 13 True False False -DOID:0060205 amyotrophic lateral sclerosis type 14 True False False +DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis-6 True False False DOID:0060206 amyotrophic lateral sclerosis type 15 True False False DOID:0060207 amyotrophic lateral sclerosis type 16 True False False DOID:0060209 amyotrophic lateral sclerosis type 18 True False False @@ -4593,7 +4383,7 @@ DOID:0060758 immunodeficiency with hyper-IgM type 2 True False False DOID:0060759 immunodeficiency with hyper IgM type 5 True False False DOID:0060760 immunodeficiency with hyper-IgM type 4 True False False DOID:0060761 familial chronic myelocytic leukemia-like syndrome True False False -DOID:0060762 lethal restrictive dermopathy True False False +DOID:0060762 restrictive dermopathy True False False DOID:0060763 X-linked juvenile retinoschisis 1 True False False DOID:0060764 autosomal recessive Robinow syndrome True False False DOID:0060765 autosomal dominant Robinow syndrome 2 True False False @@ -4851,6 +4641,7 @@ DOID:0070132 autosomal recessive cutis laxa type IIIA True False False DOID:0070133 autosomal recessive cutis laxa type IB True False False DOID:0070134 autosomal recessive cutis laxa type IIA True False False DOID:0070135 autosomal recessive cutis laxa type IA True False False +DOID:0070136 autosomal dominant cutis laxa 2 True False False DOID:0070137 autosomal recessive cutis laxa type IIB True False False DOID:0070138 autosomal recessive cutis laxa type IIIB True False False DOID:0070139 autosomal recessive cutis laxa type IC True False False @@ -4903,10 +4694,10 @@ DOID:0070186 Y-linked spermatogenic failure 1 True False False DOID:0070187 Y-linked spermatogenic failure 2 True False False DOID:0070188 spermatogenic failure 1 True False False DOID:0070189 X-linked spermatogenic failure 1 True False False -DOID:0070191 autosomal recessive chronic granulomatous disease cytochrome b-positive type II True False False -DOID:0070192 autosomal recessive chronic granulomatous disease cytochrome b-positive type I True False False -DOID:0070193 autosomal recessive chronic granulomatous disease cytochrome b-negative True False False -DOID:0070194 autosomal recessive chronic granulomatous disease cytochrome b-positive type III True False False +DOID:0070191 autosomal recessive chronic granulomatous disease 2 True False False +DOID:0070192 autosomal recessive chronic granulomatous disease 1 True False False +DOID:0070193 autosomal recessive chronic granulomatous disease 4 True False False +DOID:0070194 autosomal recessive chronic granulomatous disease 3 True False False DOID:0070195 X-linked chronic granulomatous disease True False False DOID:0070196 infantile-onset distal myopathy True False False DOID:0070197 distal myopathy 1 True False False @@ -4924,6 +4715,7 @@ DOID:0070208 hereditary lymphedema IC True False False DOID:0070209 hereditary lymphedema ID True False False DOID:0070210 hereditary lymphedema IA True False False DOID:0070211 hereditary lymphedema IB True False False +DOID:0070212 hereditary lymphedema I True False False DOID:0070213 hereditary lymphedema II True False False DOID:0070214 familial hyperinsulinemic hypoglycemia 7 True False False DOID:0070215 familial hyperinsulinemic hypoglycemia 4 True False False @@ -5056,6 +4848,7 @@ DOID:0070350 spinal muscular atrophy with lower extremity predominant 2B True Fa DOID:0070352 stress-induced childhood-onset neurodegeneration with variable ataxia and seizures True False False DOID:0070353 cataract 47 True False False DOID:0070354 cataract 48 True False False +DOID:0070355 overactive bladder syndrome True False False DOID:0070356 visual impairment and progressive phthisis bulbi True False False DOID:0070357 nephrotic syndrome type 20 True False False DOID:0070358 primary biliary cholangitis 1 True False False @@ -5521,6 +5314,7 @@ DOID:0080488 mucolipidosis True False False DOID:0080489 GM1 gangliosidosis type 3 True False False DOID:0080490 mucolipidosis type IV True False False DOID:0080491 cerebral cavernous malformation 1 True False False +DOID:0080492 leukocyte adhesion deficiency 2 True False False DOID:0080493 ovarian dysgenesis 1 True False False DOID:0080494 ovarian dysgenesis 2 True False False DOID:0080495 ovarian dysgenesis 3 True False False @@ -5572,6 +5366,7 @@ DOID:0080542 hyperprolinemia type 1 True False False DOID:0080543 hyperprolinemia type 2 True False False DOID:0080544 hyper IgM syndrome True False False DOID:0080545 hyper IgE syndrome True False False +DOID:0080546 non-alcoholic fatty liver True False False DOID:0080547 non-alcoholic steatohepatitis True False False DOID:0080548 Noonan syndrome with multiple lentigines 1 True False False DOID:0080549 Noonan syndrome with multiple lentigines 2 True False False @@ -5599,6 +5394,7 @@ DOID:0080570 congenital disorder of glycosylation It True False False DOID:0080571 congenital disorder of glycosylation Iu True False False DOID:0080572 congenital disorder of glycosylation Iw True False False DOID:0080573 congenital disorder of glycosylation Ix True False False +DOID:0080574 congenital disorder of glycosylation Iy True False False DOID:0080575 Larsen-like syndrome B3GAT3 type True False False DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type True False False DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency True False False @@ -5675,9 +5471,13 @@ DOID:0080656 45,X/46,XY mixed gonadal dysgenesis True False False DOID:0080662 atrial standstill 1 True False False DOID:0080663 atrial standstill 2 True False False DOID:0080664 diaphyseal medullary stenosis with malignant fibrous histiocytoma True False False +DOID:0080670 Meesmann corneal dystrophy 1 True False False +DOID:0080671 Meesmann corneal dystrophy 2 True False False DOID:0080672 fibrochondrogenesis 1 True False False DOID:0080673 fibrochondrogenesis 2 True False False DOID:0080674 luminal breast carcinoma B True False False +DOID:0080675 Stickler syndrome 2 True False False +DOID:0080676 Stickler syndrome 1 True False False DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant True False False DOID:0080679 neuronal intestinal dysplasia type A True False False DOID:0080680 neuronal intestinal dysplasia type B True False False @@ -5693,16 +5493,23 @@ DOID:0080693 Noonan syndrome-like disorder with loose anagen hair 2 True False F DOID:0080694 Galloway-Mowat syndrome True False False DOID:0080695 Burn-McKeown syndrome True False False DOID:0080696 Winchester syndrome True False False +DOID:0080697 Opitz GBBB syndrome True False False DOID:0080698 Teebi hypertelorism syndrome 1 True False False DOID:0080699 glutathione synthetase deficiency True False False +DOID:0080700 caudal regression syndrome True False False DOID:0080701 prothrombin thrombophilia True False False DOID:0080709 NK cell deficiency True False False DOID:0080710 T cell and NK cell immunodeficiency True False False DOID:0080711 multisystem inflammatory syndrome in children True False False DOID:0080714 hereditary alpha tryptasemia syndrome True False False +DOID:0080715 developmental and epileptic encephalopathy 82 True False False +DOID:0080716 infantile liver failure syndrome True False False DOID:0080717 infantile liver failure syndrome 1 True False False DOID:0080718 GNE myopathy True False False +DOID:0080719 proximal myopathy and ophthalmoplegia True False False DOID:0080720 autosomal dominant congenital deafness with onychodystrophy True False False +DOID:0080722 Kenny-Caffey syndrome type 1 True False False +DOID:0080723 Kenny-Caffey syndrome type 2 True False False DOID:0080724 Kenny-Caffey syndrome True False False DOID:0080729 brittle cornea syndrome 2 True False False DOID:0080740 Libman-Sacks endocarditis True False False @@ -5719,16 +5526,20 @@ DOID:0080758 Fanconi renotubular syndrome 2 True False False DOID:0080759 Fanconi renotubular syndrome 3 True False False DOID:0080760 Fanconi renotubular syndrome 4 True False False DOID:0080761 Fanconi renotubular syndrome 5 True False False +DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z True False False DOID:0080763 diffuse gastric cancer True False False +DOID:0080764 hereditary diffuse gastric cancer True False False DOID:0080766 erythrokeratodermia variabilis et progressiva 6 True False False DOID:0080767 autoimmune myocarditis True False False DOID:0080768 pyridoxine-dependent epilepsy True False False +DOID:0080770 autosomal dominant beta thalassemia True False False DOID:0080771 beta-thalassemia major True False False DOID:0080772 beta-thalassemia intermedia True False False DOID:0080774 thalassemia minor True False False DOID:0080775 complete androgen insensitivity syndrome True False False DOID:0080776 partial androgen insensitivity syndrome True False False DOID:0080777 lung sarcomatoid carcinoma True False False +DOID:0080778 transient infantile liver failure True False False DOID:0080779 plasmablastic lymphoma True False False DOID:0080780 acute erythroid leukemia True False False DOID:0080781 benign exocrine pancreas neoplasm True False False @@ -5743,6 +5554,7 @@ DOID:0080795 acute basophilic leukemia True False False DOID:0080797 nasal type extranodal NK/T-cell lymphoma True False False DOID:0080799 sinonasal undifferentiated carcinoma True False False DOID:0080800 salivary gland mucinous adenocarcinoma True False False +DOID:0080802 autosomal recessive craniometaphyseal dysplasia True False False DOID:0080803 cranioectodermal dysplasia 1 True False False DOID:0080804 cranioectodermal dysplasia 2 True False False DOID:0080805 cranioectodermal dysplasia 3 True False False @@ -5758,11 +5570,13 @@ DOID:0080835 TORCH syndrome True False False DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 True False False DOID:0080837 growth hormone insensitivity syndrome with immune dysregulation 2 True False False DOID:0080840 optic atrophy 12 True False False +DOID:0080844 omodysplasia 1 True False False DOID:0080848 long COVID True False False DOID:0080849 ocular motor apraxia, Cogan type True False False DOID:0080850 pemphigus foliaceus True False False DOID:0080851 IgA pemphigus True False False DOID:0080852 paraneoplastic pemphigus True False False +DOID:0080857 primary ovarian insufficiency 1 True False False DOID:0080883 vitamin D-dependent rickets True False False DOID:0080888 spinal ependymoma, MYCN-amplified True False False DOID:0080892 RELA fusion-positive ependymoma True False False @@ -5775,6 +5589,9 @@ DOID:0080901 bladder sarcomatoid transitional cell carcinoma True False False DOID:0080902 bladder small cell carcinoma True False False DOID:0080903 embryonal tumor with multilayered rosettes, C19MC-altered True False False DOID:0080905 central nervous system neuroblastoma True False False +DOID:0080907 Cockayne syndrome A True False False +DOID:0080908 Cockayne syndrome B True False False +DOID:0080910 cerebrooculofacioskeletal syndrome True False False DOID:0080911 cerebrooculofacioskeletal syndrome 1 True False False DOID:0080912 cerebrooculofacioskeletal syndrome 2 True False False DOID:0080913 cerebrooculofacioskeletal syndrome 3 True False False @@ -5789,9 +5606,12 @@ DOID:0080922 bilateral frontoparietal polymicrogyria True False False DOID:0080923 bilateral parasagittal parieto-occipital polymicrogyria True False False DOID:0080924 bilateral perisylvian polymicrogyria True False False DOID:0080926 7q11.23 duplication syndrome True False False +DOID:0080927 apolipoprotein A-IV associated amyloidosis True False False DOID:0080928 dialysis-related amyloidosis True False False DOID:0080929 variant ABeta2M amyloidosis True False False DOID:0080932 primary localized cutaneous amyloidosis 3 True False False +DOID:0080933 immunoglobulin light chain amyloidosis True False False +DOID:0080934 immunoglobulin heavy chain amyloidosis True False False DOID:0080936 serum amyloid A amyloidosis True False False DOID:0080937 wild-type amyloidosis True False False DOID:0080938 nonobstructive coronary artery disease True False False @@ -5804,22 +5624,27 @@ DOID:0080946 retinal dystrophy with leukodystrophy True False False DOID:0080947 acute flaccid myelitis True False False DOID:0080948 agenesis of corpus callosum, cardiac, ocular, and genital syndrome True False False DOID:0080949 alcoholic ketoacidosis True False False +DOID:0080950 alopecia-mental retardation syndrome 4 True False False DOID:0080952 AMED syndrome True False False +DOID:0080953 amelogenesis imperfecta type 1J True False False DOID:0080954 arthrogryposis multiplex congenita True False False DOID:0080956 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered True False False DOID:0080957 primary hypoalphalipoproteinemia 1 True False False DOID:0080958 primary hypoalphalipoproteinemia 2 True False False DOID:0080959 arrhythmogenic right ventricular dysplasia 14 True False False +DOID:0080960 amelogenesis imperfecta type 2A6 True False False DOID:0080962 anauxetic dysplasia 2 True False False DOID:0080963 anauxetic dysplasia 3 True False False DOID:0080976 acute myeloid leukemia with BCR-ABL1 True False False DOID:0080977 aortic valve disease 3 True False False DOID:0080988 pretibial dystrophic epidermolysis bullosa True False False +DOID:0080991 multiminicore disease True False False DOID:0081000 Cowden syndrome 4 True False False DOID:0081001 Cowden syndrome 5 True False False DOID:0081002 Cowden syndrome 6 True False False DOID:0081003 Cowden syndrome 7 True False False DOID:0081004 high-grade B-cell lymphoma double-hit/triple-hit True False False +DOID:0081007 RNASET2-deficient cystic leukoencephalopathy True False False DOID:0081008 intellectual developmental disorder with cardiac arrhythmia True False False DOID:0081009 Bardet-Biedl syndrome 20 True False False DOID:0081010 Bardet-Biedl syndrome 21 True False False @@ -5831,9 +5656,14 @@ DOID:0081024 retinal cone dystrophy 1 True False False DOID:0081025 retinal cone dystrophy 3A True False False DOID:0081026 benign peritoneal solitary fibrous tumor True False False DOID:0081028 glycogen-rich carcinoma True False False +DOID:0081030 central conducting lymphatic anomaly True False False +DOID:0081031 generalized lymphatic anomaly True False False DOID:0081041 B-cell prolymphocytic leukemia True False False DOID:0081042 T-cell prolymphocytic leukemia True False False DOID:0081044 frontonasal dysplasia True False False +DOID:0081045 frontonasal dysplasia 1 True False False +DOID:0081046 frontonasal dysplasia 2 True False False +DOID:0081047 frontonasal dysplasia 3 True False False DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome True False False DOID:0081049 hepatosplenic T-cell lymphoma True False False DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma True False False @@ -5851,19 +5681,31 @@ DOID:0081076 blastic plasmacytoid dendritic cell neoplasm True False False DOID:0081077 ectodermal dysplasia and immune deficiency True False False DOID:0081078 ectodermal dysplasia and immunodeficiency 1 True False False DOID:0081079 ectodermal dysplasia and immunodeficiency 2 True False False +DOID:0081081 acute promyelocytic leukemia with PML-RARA True False False +DOID:0081082 acute myelomonocytic leukemia True False False DOID:0081085 acute myeloid leukemia with minimal differentiation True False False +DOID:0081086 acute myeloid leukemia without maturation True False False +DOID:0081087 acute myeloid leukemia with maturation True False False DOID:0081088 chronic myelogenous leukemia, BCR-ABL1 positive True False False DOID:0081089 acute myeloid leukemia with mutated NPM1 True False False +DOID:0081095 acute myeloid leukemia with mutated CEBPA True False False DOID:0081097 Rafiq syndrome True False False +DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies True False False +DOID:0081100 spastic paraplegia with deafness True False False DOID:0081101 nonautoimmune hyperthyroidism True False False DOID:0081102 familial gestational hyperthyroidism True False False +DOID:0081104 hot water epilepsy True False False +DOID:0081105 keratosis palmoplantaris striata True False False DOID:0081109 keratosis palmoplantaris striata 2 True False False DOID:0081110 keratosis palmoplantaris striata 3 True False False DOID:0081111 osteosclerotic metaphyseal dysplasia True False False DOID:0081112 Baraitser-Winter syndrome 1 True False False DOID:0081113 Baraitser-Winter syndrome 2 True False False +DOID:0081116 benign familial infantile seizures 3 True False False +DOID:0081119 benign familial infantile seizures 6 True False False DOID:0081120 Graves ophthalmopathy True False False DOID:0081121 inclusion body myopathy and brain white matter abnormalities True False False +DOID:0081122 Catel Manzke syndrome True False False DOID:0081126 DeSanto-Shinawi syndrome True False False DOID:0081127 mandibuloacral dysplasia True False False DOID:0081132 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia True False False @@ -5881,11 +5723,50 @@ DOID:0081175 short stature, hearing loss, retinitis pigmentosa, and distinctive DOID:0081176 hypotonia, ataxia, and delayed development syndrome True False False DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 True False False DOID:0081240 peroxisome biogenesis disorder 1B True False False +DOID:0081242 autoimmune interstitial lung, joint, and kidney disease True False False DOID:0081247 dedifferentiated chondrosarcoma True False False DOID:0081248 pineocytoma True False False DOID:0081251 papillary tumor of the pineal region True False False DOID:0081259 desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma True False False DOID:0081261 angiocentric glioma True False False +DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities True False False +DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature True False False +DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures True False False +DOID:0081267 graft-versus-host disease True False False +DOID:0081268 pulmonary venoocclusive disease 1 True False False +DOID:0081269 pulmonary venoocclusive disease 2 True False False +DOID:0081270 Smith-McCort dysplasia 1 True False False +DOID:0081271 Smith-McCort dysplasia 2 True False False +DOID:0081272 Sandestig-Stefanova syndrome True False False +DOID:0081273 Siddiqi syndrome True False False +DOID:0081274 peroxisome biogenesis disorder 14B True False False +DOID:0081280 pituicytoma True False False +DOID:0081283 papillary glioneuronal tumor True False False +DOID:0081284 rosette-forming glioneuronal tumor True False False +DOID:0081287 white sponge nevus 1 True False False +DOID:0081288 white sponge nevus 2 True False False +DOID:0081289 Antley-Bixler syndrome True False False +DOID:0081293 salivary gland mucoepidermoid carcinoma True False False +DOID:0081294 neuronal intranuclear inclusion disease True False False +DOID:0081296 oculopharyngodistal myopathy True False False +DOID:0081297 oculopharyngodistal myopathy 1 True False False +DOID:0081298 oculopharyngodistal myopathy 2 True False False +DOID:0081299 oculopharyngodistal myopathy 3 True False False +DOID:0081300 oculopharyngodistal myopathy 4 True False False +DOID:0081307 lymphomatoid granulomatosis True False False +DOID:0081311 intravascular large B-cell lymphoma True False False +DOID:0081312 T-cell non-Hodgkin lymphoma True False False +DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system True False False +DOID:0081314 extraventricular neurocytoma True False False +DOID:0081317 multiple synostoses syndrome 1 True False False +DOID:0081318 multiple synostoses syndrome 2 True False False +DOID:0081319 multiple synostoses syndrome 3 True False False +DOID:0081320 multiple synostoses syndrome 4 True False False +DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A True False False +DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B True False False +DOID:0081325 developmental and epileptic encephalopathy 94 True False False +DOID:0081326 oxoglutarate dehydrogenase deficiency True False False +DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures True False False DOID:0090001 Fraser syndrome True False False DOID:0090002 Tietz syndrome True False False DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy True False False @@ -6096,7 +5977,6 @@ DOID:0110067 juvenile amyotrophic lateral sclerosis with dementia True False Fal DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis-3 True False False DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis-4 True False False DOID:0110070 arrhythmogenic right ventricular dysplasia 1 True False False -DOID:0110071 arrhythmogenic right ventricular dysplasia 2 True False False DOID:0110072 arrhythmogenic right ventricular dysplasia 3 True False False DOID:0110073 arrhythmogenic right ventricular dysplasia 4 True False False DOID:0110074 arrhythmogenic right ventricular dysplasia 5 True False False @@ -7144,6 +7024,7 @@ DOID:0111152 multicentric Castleman disease True False False DOID:0111153 congenital mirror movement disorder True False False DOID:0111154 postural orthostatic tachycardia syndrome True False False DOID:0111155 autosomal recessive spinocerebellar ataxia 21 True False False +DOID:0111156 spermatogenic failure 9 True False False DOID:0111157 Castleman disease True False False DOID:0111158 SADDAN True False False DOID:0111159 partial trisomy distal 4q True False False @@ -7166,6 +7047,8 @@ DOID:0111185 myopathy, lactic acidosis, and sideroblastic anemia 1 True False Fa DOID:0111186 myopathy, lactic acidosis, and sideroblastic anemia 2 True False False DOID:0111187 distal muscular dystrophy with anterior tibial onset True False False DOID:0111188 myofibrillar myopathy 9 True False False +DOID:0111189 distal muscular dystrophy 3 True False False +DOID:0111190 distal muscular dystrophy 4 True False False DOID:0111191 distal muscular dystrophy Tateyama type True False False DOID:0111192 facioscapulohumeral muscular dystrophy 1 True False False DOID:0111193 facioscapulohumeral muscular dystrophy 2 True False False @@ -7178,6 +7061,7 @@ DOID:0111199 distal hereditary motor neuronopathy type 7 True False False DOID:0111200 distal hereditary motor neuronopathy type 1 True False False DOID:0111201 distal hereditary motor neuronopathy type 7A True False False DOID:0111202 distal hereditary motor neuronopathy type 7B True False False +DOID:0111203 distal hereditary motor neuronopathy type 5 True False False DOID:0111204 distal hereditary motor neuronopathy type 5A True False False DOID:0111205 distal hereditary motor neuronopathy type 5B True False False DOID:0111206 distal hereditary motor neuronopathy type 2 True False False @@ -7188,6 +7072,7 @@ DOID:0111210 distal hereditary motor neuronopathy type 2D True False False DOID:0111211 distal spinal muscular atrophy type 3 True False False DOID:0111212 distal hereditary motor neuronopathy type 9 True False False DOID:0111213 distal spinal muscular atrophy type 4 True False False +DOID:0111214 distal spinal muscular atrophy type 5 True False False DOID:0111215 distal hereditary motor neuronopathy type 8 True False False DOID:0111216 autosomal recessive centronuclear myopathy True False False DOID:0111217 autosomal dominant centronuclear myopathy True False False @@ -7196,6 +7081,7 @@ DOID:0111219 Friedreich ataxia 2 True False False DOID:0111220 centronuclear myopathy 2 True False False DOID:0111221 centronuclear myopathy 6 with fiber-type disproportion True False False DOID:0111222 centronuclear myopathy 5 True False False +DOID:0111224 centronuclear myopathy 4 True False False DOID:0111225 centronuclear myopathy X-linked True False False DOID:0111226 X-linked congenital myopathy with fiber-type disproportion True False False DOID:0111227 chromosome 3-linked frontotemporal dementia True False False @@ -7215,7 +7101,9 @@ DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 True False DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 True False False DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 True False False DOID:0111243 acromicric dysplasia True False False +DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 True False False DOID:0111245 palmoplantar keratoderma and congenital alopecia 2 True False False +DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 True False False DOID:0111247 hypertension and brachydactyly syndrome True False False DOID:0111248 cerebrocostomandibular syndrome True False False DOID:0111249 uveal coloboma-cleft lip and palate-intellectual disability True False False @@ -7238,6 +7126,7 @@ DOID:0111265 Boucher-Neuhauser syndrome True False False DOID:0111266 geroderma osteodysplasticum True False False DOID:0111267 hyaline body myopathy True False False DOID:0111268 autosomal recessive hyaline body myopathy True False False +DOID:0111269 autosomal dominant hyaline body myopathy True False False DOID:0111270 isolated sulfite oxidase deficiency True False False DOID:0111271 Oliver-McFarlane syndrome True False False DOID:0111272 occipital horn syndrome True False False @@ -7246,6 +7135,7 @@ DOID:0111274 CODAS syndrome True False False DOID:0111275 speech-language disorder-1 True False False DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis True False False DOID:0111277 mitochondrial trifunctional protein deficiency True False False +DOID:0111278 histiocytosis-lymphadenopathy plus syndrome True False False DOID:0111279 psoriasis 7 True False False DOID:0111280 psoriasis 4 True False False DOID:0111281 psoriasis 15 True False False @@ -7387,6 +7277,7 @@ DOID:0111417 familial chylomicronemia syndrome True False False DOID:0111418 familial apolipoprotein C-II deficiency True False False DOID:0111419 familial chylomicronemia due to inhibition of lipoprotein lipase activity True False False DOID:0111420 familial GPIHBP1 deficiency True False False +DOID:0111421 familial apolipoprotein A5 deficiency True False False DOID:0111422 familial lipase maturation factor 1 deficiency True False False DOID:0111423 branchiootorenal syndrome 1 True False False DOID:0111424 branchiootorenal syndrome 2 True False False @@ -7409,6 +7300,7 @@ DOID:0111440 optic atrophy 4 True False False DOID:0111441 optic atrophy 1 True False False DOID:0111442 optic atrophy 9 True False False DOID:0111443 optic atrophy 2 True False False +DOID:0111444 progressive myoclonus epilepsy 4 True False False DOID:0111445 progressive myoclonus epilepsy 10 True False False DOID:0111446 progressive myoclonus epilepsy 3 True False False DOID:0111447 progressive myoclonus epilepsy 7 True False False @@ -7558,6 +7450,7 @@ DOID:0111592 plasminogen deficiency type I True False False DOID:0111593 distal arthrogryposis type 10 True False False DOID:0111594 distal arthrogryposis type 5D True False False DOID:0111595 congenital contractural arachnodactyly True False False +DOID:0111596 distal arthrogryposis type 1 True False False DOID:0111597 distal arthrogryposis type 1A True False False DOID:0111598 distal arthrogryposis type 1B True False False DOID:0111599 distal arthrogryposis type 2B True False False @@ -7566,8 +7459,12 @@ DOID:0111601 distal arthrogryposis type 2B2 True False False DOID:0111602 distal arthrogryposis type 2B3 True False False DOID:0111603 distal arthrogryposis type 7 True False False DOID:0111604 Freeman-Sheldon syndrome True False False +DOID:0111605 distal arthrogryposis type 2A True False False DOID:0111606 autosomal recessive Whistling face syndrome True False False +DOID:0111607 distal arthrogryposis type 3 True False False DOID:0111608 distal arthrogryposis type 5 True False False +DOID:0111609 distal arthrogryposis type 6 True False False +DOID:0111610 distal arthrogryposis type 4 True False False DOID:0111611 autosomal recessive spinocerebellar ataxia 4 True False False DOID:0111612 autosomal recessive spinocerebellar ataxia 3 True False False DOID:0111613 autosomal recessive spinocerebellar ataxia 23 True False False @@ -7621,6 +7518,7 @@ DOID:0111660 ectodermal dysplasia 7 True False False DOID:0111661 ectodermal dysplasia 8 True False False DOID:0111662 ectodermal dysplasia 14 True False False DOID:0111663 ectodermal dysplasia 10A True False False +DOID:0111664 ectodermal dysplasia 1 True False False DOID:0111665 ectodermal dysplasia 10B True False False DOID:0111666 proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome True False False DOID:0111667 enterokinase deficiency True False False @@ -7664,6 +7562,7 @@ DOID:0111704 chromosome 2q37 deletion syndrome True False False DOID:0111705 oculoectodermal syndrome True False False DOID:0111706 oblique facial clefting 1 True False False DOID:0111707 Bothnian type palmoplantar keratoderma True False False +DOID:0111708 focal nonepidermolytic palmoplantar keratoderma True False False DOID:0111709 focal nonepidermolytic palmoplantar keratoderma 1 True False False DOID:0111710 focal or diffuse nonepidermolytic palmoplantar keratoderma True False False DOID:0111712 Kagami-Ogata syndrome True False False @@ -7688,9 +7587,11 @@ DOID:0111733 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Tr DOID:0111734 aminoglycoside-induced deafness True False False DOID:0111735 X-linked deafness 4 True False False DOID:0111736 X-linked deafness 3 True False False +DOID:0111737 X-linked deafness 2 True False False DOID:0111738 X-linked deafness 7 True False False DOID:0111739 X-linked deafness 1 True False False DOID:0111740 X-linked deafness 6 True False False +DOID:0111741 X-linked deafness 5 True False False DOID:0111742 cerebellar ataxia type 42 True False False DOID:0111743 cerebellar ataxia type 47 True False False DOID:0111744 cerebellar ataxia type 41 True False False @@ -7739,18 +7640,25 @@ DOID:0111786 frontometaphyseal dysplasia 1 True False False DOID:0111787 frontometaphyseal dysplasia 2 True False False DOID:0111788 Melnick-Needles syndrome True False False DOID:0111789 Frank-Ter Haar syndrome True False False +DOID:0111798 X-linked nephrolithiasis type I True False False DOID:0111799 syndromic microphthalmia 1 True False False DOID:0111801 syndromic microphthalmia 3 True False False DOID:0111802 syndromic microphthalmia 14 True False False DOID:0111803 syndromic microphthalmia 8 True False False +DOID:0111805 syndromic microphthalmia 6 True False False +DOID:0111806 syndromic microphthalmia 5 True False False DOID:0111807 syndromic microphthalmia 9 True False False DOID:0111808 linear skin defects with multiple congenital anomalies 1 True False False +DOID:0111809 syndromic microphthalmia 2 True False False +DOID:0111811 syndromic microphthalmia 13 True False False +DOID:0111812 syndromic microphthalmia 10 True False False DOID:0111813 syndactyly type 8 True False False DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type True False False DOID:0111816 syndactyly type 1 True False False DOID:0111817 syndactyly type 3 True False False DOID:0111818 syndactyly type 4 True False False DOID:0111819 syndactyly type 5 True False False +DOID:0111820 zygodactyly 1 True False False DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1 True False False DOID:0111822 CHILD syndrome True False False DOID:0111824 Aarskog syndrome True False False @@ -7758,9 +7666,15 @@ DOID:0111825 autosomal dominant Aarskog syndrome True False False DOID:0111826 Abruzzo-Erickson syndrome True False False DOID:0111827 X-linked spinal muscular atrophy 2 True False False DOID:0111828 X-linked cerebellar ataxia True False False +DOID:0111829 X-linked spinocerebellar ataxia 1 True False False +DOID:0111831 X-linked spinocerebellar ataxia 3 True False False +DOID:0111832 X-linked spinocerebellar ataxia 4 True False False +DOID:0111833 X-linked spinocerebellar ataxia 5 True False False DOID:0111834 X-linked reticulate pigmentary disorder True False False +DOID:0111836 congenital nongoitrous hypothyroidism 7 True False False DOID:0111837 congenital nongoitrous hypothyroidism 8 True False False DOID:0111838 Basilicata-Akhtar syndrome True False False +DOID:0111840 Van Esch-O'Driscoll syndrome True False False DOID:0111841 Shukla-Vernon syndrome True False False DOID:0111842 Keipert syndrome True False False DOID:0111843 Paganini-Miozzo syndrome True False False @@ -7795,6 +7709,7 @@ DOID:0111890 Diamond-Blackfan anemia 4 True False False DOID:0111891 Diamond-Blackfan anemia 20 True False False DOID:0111892 Diamond-Blackfan anemia 11 True False False DOID:0111893 Diamond-Blackfan anemia 16 True False False +DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis True False False DOID:0111895 Diamond-Blackfan anemia 1 True False False DOID:0111896 Diamond-Blackfan anemia 18 True False False DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis True False False @@ -7830,60 +7745,96 @@ DOID:0111928 spermatogenic failure 27 True False False DOID:0111929 spermatogenic failure 24 True False False DOID:0111930 spermatogenic failure 29 True False False DOID:0111931 syndactyly-telecanthus-anogenital and renal malformations syndrome True False False +DOID:0111932 severe congenital encephalopathy due to MECP2 mutation True False False +DOID:0111933 phosphoglycerate kinase 1 deficiency True False False DOID:0111934 immunodeficiency 38 True False False +DOID:0111935 immunodeficiency 16 True False False DOID:0111936 immunodeficiency 14 True False False +DOID:0111937 immunodeficiency 22 True False False +DOID:0111938 immunodeficiency 24 True False False DOID:0111939 immunodeficiency 37 True False False +DOID:0111940 immunodeficiency 42 True False False DOID:0111941 immunodeficiency 20 True False False DOID:0111942 immunodeficiency 25 True False False +DOID:0111943 immunodeficiency 48 True False False DOID:0111944 immunodeficiency 31B True False False DOID:0111945 immunodeficiency 31A True False False DOID:0111946 immunodeficiency 31C True False False DOID:0111947 immunodeficiency 21 True False False +DOID:0111948 immunodeficiency 46 True False False DOID:0111949 immunodeficiency 36 True False False DOID:0111950 immunodeficiency 29 True False False +DOID:0111951 immunodeficiency 40 True False False DOID:0111952 immunodeficiency 57 True False False DOID:0111953 immunodeficiency 23 True False False DOID:0111954 immunodeficiency 60 True False False DOID:0111955 immunodeficiency 27A True False False DOID:0111956 immunodeficiency 27B True False False +DOID:0111957 immunodeficiency 11A True False False DOID:0111958 immunodeficiency 11B True False False +DOID:0111959 immunodeficiency 15B True False False DOID:0111960 immunodeficiency 15A True False False +DOID:0111961 immunodeficiency 26 True False False DOID:0111962 combined immunodeficiency True False False DOID:0111963 dendritic cell deficiency True False False +DOID:0111967 immunodeficiency 54 True False False +DOID:0111968 immunodeficiency 41 True False False DOID:0111969 immunodeficiency 39 True False False +DOID:0111970 immunodeficiency 10 True False False DOID:0111971 immunodeficiency 18 True False False DOID:0111972 immunodeficiency 19 True False False DOID:0111973 immunodeficiency 17 True False False +DOID:0111974 immunodeficiency 59 True False False DOID:0111975 immunodeficiency 44 True False False +DOID:0111976 immunodeficiency 9 True False False DOID:0111977 immunodeficiency 7 True False False DOID:0111978 immunodeficiency 65 True False False DOID:0111979 immunodeficiency 49 True False False DOID:0111980 immunodeficiency 64 True False False DOID:0111983 immunodeficiency 52 True False False +DOID:0111984 immunodeficiency 58 True False False DOID:0111985 immunodeficiency 32B True False False +DOID:0111986 immunodeficiency 32A True False False DOID:0111987 immunodeficiency 13 True False False +DOID:0111988 immunodeficiency 12 True False False DOID:0111989 immunodeficiency 35 True False False +DOID:0111990 immunodeficiency 30 True False False DOID:0111991 immunodeficiency 62 True False False DOID:0111992 immunodeficiency 53 True False False +DOID:0111993 immunodeficiency 55 True False False DOID:0111994 immunodeficiency 45 True False False DOID:0111995 immunodeficiency 28 True False False DOID:0111996 immunodeficiency 51 True False False +DOID:0111997 immunodeficiency 63 True False False DOID:0111998 immunodeficiency 66 True False False DOID:0111999 immunodeficiency 61 True False False +DOID:0112000 immunodeficiency 34 True False False +DOID:0112001 immunodeficiency 50 True False False DOID:0112002 immunodeficiency 47 True False False DOID:0112003 immunodeficiency 33 True False False +DOID:0112004 immunodeficiency 71 True False False DOID:0112005 immunodeficiency 70 True False False DOID:0112006 immunodeficiency 69 True False False +DOID:0112008 pituitary adenoma 5 True False False +DOID:0112010 pituitary adenoma 3 True False False +DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques True False False +DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques True False False +DOID:0112015 immunodeficiency 72 True False False DOID:0112037 chromosome Xp11.22 duplication syndrome True False False +DOID:0112038 non-syndromic X-linked intellectual disability 1 True False False +DOID:0112042 Tonne-Kalscheuer syndrome True False False DOID:0112056 X-linked intellectual disability-short stature-overweight syndrome True False False DOID:0112061 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia True False False DOID:0112062 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia True False False DOID:0112063 X-Linked immunodeficiency 74 True False False DOID:0112064 immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis True False False +DOID:0112072 nuclear type mitochondrial complex I deficiency 20 True False False +DOID:0112102 Sotos syndrome 2 True False False DOID:0112103 Sotos syndrome 1 True False False DOID:0112104 Sotos syndrome 3 True False False DOID:0112105 X-linked parkinsonism-spasticity syndrome True False False DOID:0112106 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia True False False +DOID:0112107 McLeod syndrome True False False DOID:0112108 myofibrillar myopathy 10 True False False DOID:0112109 spermatogenic failure 44 True False False DOID:0112110 combined oxidative phosphorylation deficiency 49 True False False @@ -7902,8 +7853,14 @@ DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior DOID:0112123 deafness, dystonia, and cerebral hypomyelination True False False DOID:0112124 X-linked retinitis pigmentosa and sinorespiratory infections True False False DOID:0112125 alpha-thalassemia myelodysplasia syndrome True False False +DOID:0112127 HRPT-related hyperuricemia True False False DOID:0112128 X-linked severe congenital neutropenia True False False +DOID:0112129 severe congenital neutropenia 7 True False False DOID:0112130 autosomal dominant severe congenital neutropenia True False False +DOID:0112132 severe congenital neutropenia 5 True False False +DOID:0112133 severe congenital neutropenia 3 True False False +DOID:0112134 severe congenital neutropenia 6 True False False +DOID:0112136 severe congenital neutropenia 4 True False False DOID:0112137 combined oxidative phosphorylation deficiency 51 True False False DOID:0112140 retinitis pigmentosa 83 True False False DOID:0112141 retinitis pigmentosa 84 True False False @@ -7934,10 +7891,13 @@ DOID:0112175 spermatogenic failure 47 True False False DOID:0112176 spermatogenic failure 48 True False False DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome True False False DOID:0112178 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 True False False +DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 True False False +DOID:0112180 urocanase deficiency True False False DOID:0112181 Schinzel type phocomelia True False False DOID:0112182 mismatch repair cancer syndrome True False False DOID:0112183 familial thyroid dyshormonogenesis True False False DOID:0112184 thyroid dyshormonogenesis 5 True False False +DOID:0112185 thyroid dyshormonogenesis 1 True False False DOID:0112186 thyroid dyshormonogenesis 2A True False False DOID:0112187 thyroid dyshormonogenesis 3 True False False DOID:0112188 thyroid dyshormonogenesis 4 True False False @@ -7947,75 +7907,120 @@ DOID:0112192 tetraamelia syndrome 1 True False False DOID:0112193 tetraamelia syndrome 2 True False False DOID:0112194 Filippi syndrome True False False DOID:0112195 spondyloperipheral dysplasia True False False +DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type True False False DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity True False False DOID:0112198 spondyloepimetaphyseal dysplasia with joint laxity type 1 True False False DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 True False False DOID:0112200 spondyloepimetaphyseal dysplasia with joint laxity type 3 True False False +DOID:0112201 osteogenesis imperfecta type 21 True False False DOID:0112202 developmental and epileptic encephalopathy True False False +DOID:0112203 developmental and epileptic encephalopathy 67 True False False +DOID:0112204 developmental and epileptic encephalopathy 68 True False False +DOID:0112205 developmental and epileptic encephalopathy 69 True False False +DOID:0112206 developmental and epileptic encephalopathy 70 True False False +DOID:0112207 developmental and epileptic encephalopathy 71 True False False +DOID:0112208 developmental and epileptic encephalopathy 72 True False False +DOID:0112209 developmental and epileptic encephalopathy 73 True False False +DOID:0112210 developmental and epileptic encephalopathy 74 True False False +DOID:0112211 developmental and epileptic encephalopathy 75 True False False +DOID:0112212 developmental and epileptic encephalopathy 76 True False False +DOID:0112214 developmental and epileptic encephalopathy 78 True False False +DOID:0112215 developmental and epileptic encephalopathy 79 True False False +DOID:0112216 developmental and epileptic encephalopathy 80 True False False +DOID:0112217 developmental and epileptic encephalopathy 81 True False False +DOID:0112218 developmental and epileptic encephalopathy 83 True False False +DOID:0112219 developmental and epileptic encephalopathy 84 True False False +DOID:0112220 developmental and epileptic encephalopathy 86 True False False +DOID:0112221 developmental and epileptic encephalopathy 87 True False False +DOID:0112222 developmental and epileptic encephalopathy 88 True False False DOID:0112223 developmental and epileptic encephalopathy 89 True False False +DOID:0112224 chondrodysplasia with joint dislocations gPAPP type True False False DOID:0112226 Bosch-Boonstra-Schaaf optic atrophy syndrome True False False DOID:0112227 tubulinopathy True False False DOID:0112228 lissencephaly 9 with complex brainstem malformation True False False DOID:0112229 lissencephaly 10 True False False +DOID:0112230 lissencephaly 5 True False False DOID:0112231 lissencephaly 7 with cerebellar hypoplasia True False False DOID:0112232 lissencephaly 3 True False False DOID:0112233 lissencephaly 8 True False False DOID:0112234 microlissencephaly True False False DOID:0112235 lissencephaly 4 True False False DOID:0112237 lissencephaly 1 True False False +DOID:0112238 X-linked lissencephaly 2 True False False DOID:0112239 X-linked lissencephaly 1 True False False DOID:0112240 Leber congenital amaurosis with early-onset deafness True False False DOID:0112241 multiple benign circumferential skin creases on limbs True False False DOID:0112244 alopecia, neurologic defects, and endocrinopathy syndrome True False False DOID:0112246 glutaric acidemia type 3 True False False DOID:0112247 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder True False False +DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency True False False DOID:0112249 GAPO syndrome True False False +DOID:0112250 Gaucher's disease type IIIC True False False DOID:0112251 Ghosal hematodiaphyseal syndrome True False False +DOID:0112252 glutathione synthetase deficiency of erythrocytes True False False +DOID:0112253 combined cellular and humoral immune defects with granulomas True False False DOID:0112254 hepatic venoocclusive disease with immunodeficiency True False False DOID:0112255 homocystinuria-megaloblastic anemia cblE type True False False DOID:0112256 homocystinuria-megaloblastic anemia cblG type True False False DOID:0112257 hydroxykynureninuria True False False +DOID:0112258 N-acetylglutamate synthase deficiency True False False DOID:0112259 Leydig cell hypoplasia True False False DOID:0112260 Leydig cell hypoplasia type I True False False DOID:0112261 Leydig cell hypoplasia type II True False False DOID:0112262 leucine-sensitive hypoglycemia of infancy True False False +DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy True False False DOID:0112264 Woodhouse-Sakati syndrome True False False DOID:0112265 iminoglycinuria True False False DOID:0112266 nephrotic syndrome type 23 True False False DOID:0112267 nephrotic syndrome type 21 True False False DOID:0112268 nephrotic syndrome type 22 True False False +DOID:0112269 primary ovarian insufficiency 18 True False False DOID:0112270 spermatogenic failure 52 True False False DOID:0112271 spermatogenic failure 49 True False False DOID:0112273 spermatogenic failure 51 True False False DOID:0112274 X-linked spermatogenic failure 3 True False False +DOID:0112275 developmental and epileptic encephalopathy 93 True False False DOID:0112276 neurodevelopmental disorder with involuntary movements True False False DOID:0112277 immunodeficiency 79 True False False +DOID:0112278 primary ovarian insufficiency 19 True False False DOID:0112279 spermatogenic failure 53 True False False DOID:0112280 spondyloepiphyseal dysplasia True False False DOID:0112284 spondyloepiphyseal dysplasia tarda True False False +DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda True False False DOID:0112286 spondyloepiphyseal dysplasia with punctate corneal dystrophy True False False +DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech True False False DOID:0112289 spondyloepiphyseal dysplasia tarda with characteristic facies True False False DOID:0112290 spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis True False False +DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda True False False DOID:0112294 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability True False False DOID:0112295 spondylometaphyseal dysplasia True False False +DOID:0112296 spondylometaphyseal dysplasia Algerian type True False False DOID:0112299 axial spondylometaphyseal dysplasia True False False +DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy True False False DOID:0112303 spondylometaphyseal dysplasia with corneal dystrophy True False False +DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism True False False DOID:0112306 Mahvash Disease True False False DOID:0112307 sarcosinemia True False False DOID:0112308 central precocious puberty True False False DOID:0112311 male infertility due to acephalic spermatozoa True False False DOID:0112312 male infertility due to globozoospermia True False False +DOID:0112314 brain small vessel disease 2 True False False DOID:0112315 brain small vessel disease 3 True False False DOID:0112316 methemoglobinemia and ambiguous genitalia True False False DOID:0112317 Schindler disease True False False +DOID:0112318 Schindler disease type 1 True False False +DOID:0112319 Kanzaki disease True False False DOID:0112320 Schindler disease type 3 True False False +DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome True False False DOID:0112322 pontocerebellar hypoplasia type 1 True False False +DOID:0112327 pontocerebellar hypoplasia type 12 True False False DOID:0112328 pontocerebellar hypoplasia type 2 True False False DOID:0112335 spermatogenic failure 54 True False False DOID:0112336 spermatogenic failure 56 True False False DOID:0112337 spermatogenic failure 55 True False False DOID:0112338 spermatogenic failure 57 True False False DOID:0112339 Tatton-Brown-Rahman syndrome True False False +DOID:0112344 hereditary spastic paraplegia 79 True False False DOID:0112349 hereditary spastic paraplegia 81 True False False DOID:0112350 spermatogenic failure 61 True False False DOID:0112351 spermatogenic failure 62 True False False @@ -8035,6 +8040,8 @@ DOID:0112370 Coffin-Siris syndrome 12 True False False DOID:0112371 Coffin-Siris syndrome 10 True False False DOID:0112372 Coffin-Siris syndrome 11 True False False DOID:0112374 muscular dystrophy-dystroglycanopathy True False False +DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 True False False +DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 True False False DOID:0112383 KINSSHIP syndrome True False False DOID:100 intestinal infectious disease True False False DOID:10003 sensorineural hearing loss True False False @@ -8468,6 +8475,7 @@ DOID:11161 neonatal respiratory failure True False False DOID:11162 respiratory failure True False False DOID:11164 band keratopathy True False False DOID:11165 common wart True False False +DOID:11166 Human papillomavirus infectious disease True False False DOID:11168 anogenital venereal wart True False False DOID:11175 enophthalmos True False False DOID:11177 total internal ophthalmoplegia True False False @@ -8649,6 +8657,7 @@ DOID:11633 thyroid hormone resistance syndrome True False False DOID:11634 myxedema True False False DOID:11637 accommodative spasm True False False DOID:11638 presbyopia True False False +DOID:11650 bronchopulmonary dysplasia True False False DOID:11653 conjunctival deposit True False False DOID:11656 cicatricial pemphigoid True False False DOID:1166 palindromic rheumatism True False False @@ -9761,8 +9770,8 @@ DOID:1586 rheumatic fever True False False DOID:1587 thrombocytopenia due to platelet alloimmunization True False False DOID:1588 thrombocytopenia True False False DOID:1591 renovascular hypertension True False False -DOID:1595 endogenous depression True False False -DOID:1596 mental depression True False False +DOID:1595 melancholic depression True False False +DOID:1596 depressive disorder True False False DOID:16 integumentary system disease True False False DOID:1602 lymphadenitis True False False DOID:1607 hypoglycemic coma True False False @@ -10290,7 +10299,7 @@ DOID:2745 narcissistic personality disorder True False False DOID:2746 glycogen storage disease V True False False DOID:2747 glycogen storage disease True False False DOID:2748 glycogen storage disease III True False False -DOID:2749 glycogen storage disease I True False False +DOID:2749 glycogen storage disease Ia True False False DOID:275 gastric hemangioma True False False DOID:2750 glycogen storage disease IV True False False DOID:2751 glycogen storage disease VIII True False False @@ -10338,7 +10347,6 @@ DOID:2841 asthma True False False DOID:2842 Jervell-Lange Nielsen syndrome True False False DOID:2843 long QT syndrome True False False DOID:2846 bruxism True False False -DOID:2848 melancholia True False False DOID:285 hairy cell leukemia True False False DOID:2855 hyperthyroxinemia True False False DOID:2856 euthyroid sick syndrome True False False @@ -13670,6 +13678,7 @@ DOID:0050819 obsolete Matthew-Wood syndrome True True True DOID:0050867 obsolete Jensen syndrome True True True DOID:0060208 obsolete amyotrophic lateral sclerosis type 17 True True True DOID:0080088 obsolete nonsyndromic congenital nail disorder 10 True True True +DOID:0110071 obsolete arrhythmogenic right ventricular dysplasia 2 True True True DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A True True True DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B True True True DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C True True True @@ -13678,6 +13687,7 @@ DOID:10574 obsolete vitamin D deficiency True True True DOID:1634 obsolete breast papillomatosis True True True DOID:2088 obsolete outlet dysfunction constipation True True True DOID:2089 obsolete constipation True True True +DOID:2848 obsolete melancholia True True True DOID:338 obsolete cranial nerve neoplasm True True True DOID:3773 obsolete third ventricle chordoid glioma True True True DOID:5532 obsolete ovarian squamous cell neoplasm True True True diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt index 50a94e3a..ed991c81 100644 --- a/src/ontology/reports/doid_term_exclusions.txt +++ b/src/ontology/reports/doid_term_exclusions.txt @@ -485,6 +485,7 @@ DOID:0081005 DOID:0081006 DOID:0081062 DOID:0090121 +DOID:0110071 DOID:0110098 DOID:0110099 DOID:0110100 @@ -1392,6 +1393,7 @@ DOID:280 DOID:2809 DOID:283 DOID:284 +DOID:2848 DOID:2853 DOID:2857 DOID:287 diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index bf456056..68a62b23 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,9 +1,7 @@ subject_id subject_label -DOID:0112248 17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0081133 3-methylglutaconic aciduria type 7a DOID:0081134 3-methylglutaconic aciduria type 7b DOID:0081069 A53 diffuse large B-cell lymphoma -DOID:0081289 Antley-Bixler syndrome DOID:0081290 Antley-Bixler syndrome without disordered steroidogenesis DOID:0111964 B cell and dendritic cell deficiency DOID:0080725 BASAN syndrome @@ -11,13 +9,8 @@ DOID:0112225 BH4-deficient hyperphenylalaninemia B DOID:0081130 BH4-deficient hyperphenylalaninemia C DOID:0081131 BH4-deficient hyperphenylalaninemia D DOID:0081064 BN2 diffuse large B-cell lymphoma -DOID:0060018 CD3gamma deficiency DOID:0081250 CIC-rearranged sarcoma DOID:0080906 CNS neuroblastoma with FOXR2 activation -DOID:0081122 Catel Manzke syndrome -DOID:0080907 Cockayne syndrome A -DOID:0080908 Cockayne syndrome B -DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis DOID:0081249 EWSR1-negative small round cell tumor DOID:0081065 EZB diffuse large B-cell lymphoma DOID:0081070 EZB-MYC+ diffuse large B-cell lymphoma @@ -38,63 +31,33 @@ DOID:0080987 Ehlers-Danlos syndrome periodontal type 2 DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 DOID:0111180 French Canadian Leigh disease -DOID:0112250 Gaucher's disease type IIIC -DOID:0112127 HRPT-related hyperuricemia -DOID:11166 Human papillomavirus infectious disease DOID:0080875 IDH-mutant anaplastic astrocytoma DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma DOID:0080876 IDH-wildtype anaplastic astrocytoma DOID:0080878 IDH-wildtype glioblastoma -DOID:0112319 Kanzaki disease -DOID:0080722 Kenny-Caffey syndrome type 1 -DOID:0080723 Kenny-Caffey syndrome type 2 DOID:0080990 King Denborough syndrome DOID:0081066 MCD diffuse large B-cell lymphoma -DOID:0112179 Mayer-Rokitansky-Kuster-Hauser syndrome type 2 -DOID:0112107 McLeod syndrome -DOID:0080670 Meesmann corneal dystrophy 1 -DOID:0080671 Meesmann corneal dystrophy 2 -DOID:0112258 N-acetylglutamate synthase deficiency DOID:0081067 N1 diffuse large B-cell lymphoma +DOID:0081334 Nestor-Guillermo progeria syndrome DOID:0050192 Nipah virus encephalitis -DOID:0080697 Opitz GBBB syndrome DOID:0080855 Parkinsonism -DOID:0081007 RNASET2-deficient cystic leukoencephalopathy DOID:0112060 Raynaud-Claes syndrome DOID:0081068 ST2 diffuse large B-cell lymphoma -DOID:0081272 Sandestig-Stefanova syndrome -DOID:0112318 Schindler disease type 1 -DOID:0081273 Siddiqi syndrome -DOID:0081270 Smith-McCort dysplasia 1 -DOID:0081271 Smith-McCort dysplasia 2 -DOID:0112102 Sotos syndrome 2 -DOID:0080676 Stickler syndrome 1 -DOID:0080675 Stickler syndrome 2 DOID:0112126 Stocco Dos Santos type X-linked intellectual disability DOID:0111965 T cell, B cell, and NK cell deficiency -DOID:0081312 T-cell non-Hodgkin lymphoma DOID:0080817 T2-high asthma DOID:0080818 T2-low asthma -DOID:0112042 Tonne-Kalscheuer syndrome -DOID:0111840 Van Esch-O'Driscoll syndrome +DOID:0081333 Wiedemann-Rautenstrauch syndrome DOID:0081059 X-linked central diabetes insipidus DOID:0111863 X-linked congenital bilateral absence of vas deferens -DOID:0111737 X-linked deafness 2 -DOID:0111741 X-linked deafness 5 DOID:0111844 X-linked intellectual developmental disorder 108 DOID:0080984 X-linked intellectual developmental disorder 109 DOID:0080754 X-linked keratosis follicularis spinulosa decalvans -DOID:0112238 X-linked lissencephaly 2 DOID:0081123 X-linked mental retardation Gustavson type DOID:0080982 X-linked mental retardation-hypotonic facies syndrome-1 DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0081060 X-linked nephrogenic diabetes insipidus -DOID:0111798 X-linked nephrolithiasis type I -DOID:0111829 X-linked spinocerebellar ataxia 1 DOID:0111830 X-linked spinocerebellar ataxia 2 -DOID:0111831 X-linked spinocerebellar ataxia 3 -DOID:0111832 X-linked spinocerebellar ataxia 4 -DOID:0111833 X-linked spinocerebellar ataxia 5 DOID:0080839 X-linked warfarin sensitivity DOID:0080891 YAP1-MAMLD1 fusion-positive supratentorial ependymoma DOID:0081237 acromesomelic dysplasia-3 @@ -105,17 +68,12 @@ DOID:0081094 acute myeloid leukemia with MLL rearrangement DOID:0081090 acute myeloid leukemia with biallelic mutation of CEBPA DOID:0081084 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) DOID:0081083 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) -DOID:0081087 acute myeloid leukemia with maturation -DOID:0081095 acute myeloid leukemia with mutated CEBPA DOID:0081091 acute myeloid leukemia with mutated RUNX1 DOID:0081092 acute myeloid leukemia with myelodysplasia-related changes DOID:0081096 acute myeloid leukemia with t(1;22)(p13;q13) DOID:0081080 acute myeloid leukemia with t(6;9) (p23;q34.1) DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) -DOID:0081086 acute myeloid leukemia without maturation -DOID:0081082 acute myelomonocytic leukemia DOID:0080998 acute necrotizing pancreatitis -DOID:0081081 acute promyelocytic leukemia with PML-RARA DOID:0080816 adult-onset severe asthma DOID:0081136 agammaglobulinemia 1 DOID:0081142 agammaglobulinemia 10 @@ -126,18 +84,12 @@ DOID:0081139 agammaglobulinemia 7 DOID:0081140 agammaglobulinemia 8A DOID:0081143 agammaglobulinemia 8B DOID:0081141 agammaglobulinemia 9 -DOID:0112321 alacrima, achalasia, and impaired intellectual development syndrome DOID:0080951 alopecia-mental retardation syndrome 3 -DOID:0080950 alopecia-mental retardation syndrome 4 -DOID:0080953 amelogenesis imperfecta type 1J -DOID:0080960 amelogenesis imperfecta type 2A6 DOID:0111721 amelogenesis imperfecta type 3 -DOID:0111246 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0080854 anaplastic pleomorphic xanthoastrocytoma DOID:0080607 anterior segment dysgenesis 2 DOID:0080610 anterior segment dysgenesis 5 DOID:0080685 aortic dissection -DOID:0080927 apolipoprotein A-IV associated amyloidosis DOID:0080978 arthrogryposis multiplex congenita-1 DOID:0080979 arthrogryposis multiplex congenita-3 DOID:0080980 arthrogryposis multiplex congenita-4 @@ -150,28 +102,22 @@ DOID:0081257 astrocytoma, IDH-mutant, grade 3 DOID:0080877 astrocytoma, IDH-mutant, grade 4 DOID:0080742 autoimmune cholangitis DOID:0080994 autoimmune epilepsy -DOID:0081242 autoimmune interstitial lung, joint, and kidney disease DOID:0080321 autonomic nervous system benign neoplasm -DOID:0080770 autosomal dominant beta thalassemia DOID:0112373 autosomal dominant auditory neuropathy 3 DOID:0080807 autosomal dominant craniodiaphyseal dysplasia DOID:0080801 autosomal dominant craniometaphyseal dysplasia -DOID:0070136 autosomal dominant cutis laxa 2 DOID:0070020 autosomal dominant dyskeratosis congenita 4 -DOID:0111269 autosomal dominant hyaline body myopathy DOID:0080755 autosomal dominant keratosis follicularis spinulosa decalvans -DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112165 autosomal dominant nonsyndromic deafness 74 DOID:0112166 autosomal dominant nonsyndromic deafness 75 DOID:0112167 autosomal dominant nonsyndromic deafness 76 DOID:0112168 autosomal dominant nonsyndromic deafness 77 DOID:0112159 autosomal dominant nonsyndromic deafness 78 DOID:0112160 autosomal dominant nonsyndromic deafness 79 -DOID:0112285 autosomal dominant spondyloepiphyseal dysplasia tarda DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency +DOID:0070368 autosomal recessive chronic granulomatous disease 5 DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens DOID:0111797 autosomal recessive congenital nystagmus -DOID:0080802 autosomal recessive craniometaphyseal dysplasia DOID:0081177 autosomal recessive intellectual developmental disorder 1 DOID:0081185 autosomal recessive intellectual developmental disorder 10/20 DOID:0081186 autosomal recessive intellectual developmental disorder 11 @@ -233,44 +179,32 @@ DOID:0081234 autosomal recessive intellectual developmental disorder 75 DOID:0081235 autosomal recessive intellectual developmental disorder 76 DOID:0081236 autosomal recessive intellectual developmental disorder 77 DOID:0081184 autosomal recessive intellectual developmental disorder 9/26 -DOID:0080762 autosomal recessive limb-girdle muscular dystrophy type 2Z DOID:0112162 autosomal recessive nonsyndromic deafness 116 -DOID:0112293 autosomal recessive spondyloepiphyseal dysplasia tarda DOID:0112291 autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency DOID:0081114 benign familial infantile seizures 1 DOID:0081115 benign familial infantile seizures 2 -DOID:0081116 benign familial infantile seizures 3 DOID:0081117 benign familial infantile seizures 4 DOID:0081118 benign familial infantile seizures 5 -DOID:0081119 benign familial infantile seizures 6 DOID:0080602 benign teratoma DOID:0112313 brain small vessel disease -DOID:0112314 brain small vessel disease 2 DOID:0081323 breast implant illness -DOID:11650 bronchopulmonary dysplasia DOID:0080652 calcium oxalate nephrolithiasis DOID:0080721 calvarial doughnut lesions with bone fragility DOID:0080909 castration-resistant prostate carcinoma DOID:0081245 cauda equina neuroendocrine tumor -DOID:0080700 caudal regression syndrome -DOID:0081030 central conducting lymphatic anomaly DOID:0081315 central nervous system tumor with BCOR internal tandem duplication DOID:0112310 central precocious puberty 1 DOID:0112309 central precocious puberty 2 DOID:0111223 centronuclear myopathy 1 -DOID:0111224 centronuclear myopathy 4 DOID:0081276 cerebellar atrophy, visual impairment, and psychomotor retardation -DOID:0080910 cerebrooculofacioskeletal syndrome DOID:0080794 childhood acute megakaryoblastic leukemia DOID:0080830 childhood low-grade glioma -DOID:0112224 chondrodysplasia with joint dislocations gPAPP type DOID:0080809 chronic asthma DOID:0080748 chronic inducible urticaria DOID:0080749 chronic spontaneous urticaria DOID:0081291 chronic traumatic encephalopathy DOID:0080747 chronic urticaria -DOID:0112253 combined cellular and humoral immune defects with granulomas DOID:0112173 combined deficiency of vitamin K-dependent clotting factors 1 DOID:0112174 combined deficiency of vitamin K-dependent clotting factors 2 DOID:0081144 common variable immunodeficiency 1 @@ -287,14 +221,12 @@ DOID:0081149 common variable immunodeficiency 6 DOID:0081150 common variable immunodeficiency 7 DOID:0081151 common variable immunodeficiency 8 DOID:0111839 congenital disorder of glycosylation Icc -DOID:0080574 congenital disorder of glycosylation Iy DOID:0081015 congenital fibrosis of the extraocular muscles 1 DOID:0081016 congenital fibrosis of the extraocular muscles 2 DOID:0081017 congenital fibrosis of the extraocular muscles 3A DOID:0081019 congenital fibrosis of the extraocular muscles 3C DOID:0081020 congenital fibrosis of the extraocular muscles 5 DOID:0112014 congenital megabladder -DOID:0111836 congenital nongoitrous hypothyroidism 7 DOID:0111835 congenital nongoitrous hypothyroidism 9 DOID:0111790 congenital nystagmus 1 DOID:0111792 congenital nystagmus 2 @@ -304,8 +236,6 @@ DOID:0111795 congenital nystagmus 6 DOID:0111791 congenital nystagmus 7 DOID:0112242 congenital symmetric circumferential skin creases 1 DOID:0112243 congenital symmetric circumferential skin creases 2 -DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A -DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B DOID:0080796 core binding factor acute myeloid leukemia DOID:0081124 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 DOID:0081125 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 @@ -314,29 +244,7 @@ DOID:0081012 critical COVID-19 DOID:0080925 cytochrome P450 oxidoreductase deficiency DOID:0111576 dehydrated hereditary stomatocytosis 1 DOID:0080773 delta beta-thalassemia -DOID:0112203 developmental and epileptic encephalopathy 67 -DOID:0112204 developmental and epileptic encephalopathy 68 -DOID:0112205 developmental and epileptic encephalopathy 69 -DOID:0112206 developmental and epileptic encephalopathy 70 -DOID:0112207 developmental and epileptic encephalopathy 71 -DOID:0112208 developmental and epileptic encephalopathy 72 -DOID:0112209 developmental and epileptic encephalopathy 73 -DOID:0112210 developmental and epileptic encephalopathy 74 -DOID:0112211 developmental and epileptic encephalopathy 75 -DOID:0112212 developmental and epileptic encephalopathy 76 DOID:0112213 developmental and epileptic encephalopathy 77 -DOID:0112214 developmental and epileptic encephalopathy 78 -DOID:0112215 developmental and epileptic encephalopathy 79 -DOID:0112216 developmental and epileptic encephalopathy 80 -DOID:0112217 developmental and epileptic encephalopathy 81 -DOID:0080715 developmental and epileptic encephalopathy 82 -DOID:0112218 developmental and epileptic encephalopathy 83 -DOID:0112219 developmental and epileptic encephalopathy 84 -DOID:0112220 developmental and epileptic encephalopathy 86 -DOID:0112221 developmental and epileptic encephalopathy 87 -DOID:0112222 developmental and epileptic encephalopathy 88 -DOID:0112275 developmental and epileptic encephalopathy 93 -DOID:0081325 developmental and epileptic encephalopathy 94 DOID:0081264 developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered DOID:0080880 diffuse glioma, H3 G34 mutant @@ -347,20 +255,10 @@ DOID:0081260 diffuse low-grade glioma, MAPK pathway–altered DOID:0080684 diffuse midline glioma, H3 K27M-mutant DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype DOID:0080578 digenic disease -DOID:0111596 distal arthrogryposis type 1 DOID:0112190 distal arthrogryposis type 1C -DOID:0111605 distal arthrogryposis type 2A -DOID:0111607 distal arthrogryposis type 3 -DOID:0111610 distal arthrogryposis type 4 -DOID:0111609 distal arthrogryposis type 6 -DOID:0111203 distal hereditary motor neuronopathy type 5 -DOID:0111189 distal muscular dystrophy 3 -DOID:0111190 distal muscular dystrophy 4 -DOID:0111214 distal spinal muscular atrophy type 5 DOID:0060034 dropped head syndrome DOID:0070310 drug-induced hearing loss DOID:0080769 early-onset vitamin B6-dependent epilepsy -DOID:0111664 ectodermal dysplasia 1 DOID:0081286 embryonal tumor with multilayered rosettes DOID:0080819 environmental induced asthma DOID:0080511 epidermolysis bullosa simplex generalized type @@ -369,36 +267,28 @@ DOID:0080750 erythema nodosum DOID:0080916 erythroleukemia DOID:0081295 essential tremor 6 DOID:0080821 exercise-induced bronchoconstriction -DOID:0081314 extraventricular neurocytoma DOID:0080811 extrinsic asthma -DOID:0111421 familial apolipoprotein A5 deficiency DOID:0111729 familial episodic pain syndrome 1 DOID:0111731 familial episodic pain syndrome 3 +DOID:0081328 familial hyperinsulinemic hypoglycemia 8 DOID:0112025 female-restricted syndromic X-linked intellectual disability 99 DOID:0081043 fetal akinesia deformation sequence syndrome X-linked -DOID:0111708 focal nonepidermolytic palmoplantar keratoderma DOID:0111711 focal nonepidermolytic palmoplantar keratoderma 2 DOID:0112245 focal segmental glomerulosclerosis 3 -DOID:0081045 frontonasal dysplasia 1 -DOID:0081046 frontonasal dysplasia 2 -DOID:0081047 frontonasal dysplasia 3 DOID:0080712 gene duplication disease -DOID:0081031 generalized lymphatic anomaly DOID:0080601 germ cell benign neoplasm -DOID:0112252 glutathione synthetase deficiency of erythrocytes DOID:0081034 glutatione synthetase deficiency with 5-oxoprolinuria +DOID:0081329 glycogen storage disease I +DOID:0081330 glycogen storage disease Ib +DOID:0081331 glycogen storage disease Ic DOID:0081308 grade I lymphomatoid granulomatosis DOID:0081309 grade II lymphomatoid granulomatosis DOID:0081310 grade III lymphomatoid granulomatosis -DOID:0081267 graft-versus-host disease DOID:0112007 growth hormone secreting pituitary adenoma 2 DOID:3117 hepatobiliary benign neoplasm DOID:0080939 hereditary angioedema type I DOID:0080940 hereditary angioedema type III -DOID:0080764 hereditary diffuse gastric cancer -DOID:0070212 hereditary lymphedema I DOID:0112348 hereditary spastic paraplegia 78 -DOID:0112344 hereditary spastic paraplegia 79 DOID:0112341 hereditary spastic paraplegia 80 DOID:0112343 hereditary spastic paraplegia 82 DOID:0112346 hereditary spastic paraplegia 83 @@ -406,49 +296,17 @@ DOID:0112347 hereditary spastic paraplegia 84 DOID:0112345 hereditary spastic paraplegia 85 DOID:0112342 hereditary spastic paraplegia 86 DOID:0081304 high-grade astrocytoma with piloid features -DOID:0111278 histiocytosis-lymphadenopathy plus syndrome DOID:0080879 histone mutated tumor -DOID:0081104 hot water epilepsy DOID:0081106 hot water epilepsy 1 DOID:0081107 hot water epilepsy 2 DOID:0080827 human cytomegalovirus infection DOID:0080594 hyper IgE recurrent infection syndrome 2 -DOID:0112263 hypoinsulinemic hypoglycemia with hemihypertrophy DOID:0112153 hypomyelinating leukodystrophy 20 -DOID:0111970 immunodeficiency 10 -DOID:0111957 immunodeficiency 11A -DOID:0111988 immunodeficiency 12 -DOID:0111959 immunodeficiency 15B -DOID:0111935 immunodeficiency 16 -DOID:0111937 immunodeficiency 22 -DOID:0111938 immunodeficiency 24 -DOID:0111961 immunodeficiency 26 -DOID:0111990 immunodeficiency 30 -DOID:0111986 immunodeficiency 32A -DOID:0112000 immunodeficiency 34 -DOID:0111951 immunodeficiency 40 -DOID:0111968 immunodeficiency 41 -DOID:0111940 immunodeficiency 42 DOID:0111981 immunodeficiency 43 -DOID:0111948 immunodeficiency 46 -DOID:0111943 immunodeficiency 48 -DOID:0112001 immunodeficiency 50 -DOID:0111967 immunodeficiency 54 -DOID:0111993 immunodeficiency 55 DOID:0111982 immunodeficiency 56 -DOID:0111984 immunodeficiency 58 -DOID:0111974 immunodeficiency 59 -DOID:0111997 immunodeficiency 63 -DOID:0112004 immunodeficiency 71 -DOID:0112015 immunodeficiency 72 -DOID:0111976 immunodeficiency 9 -DOID:0080934 immunoglobulin heavy chain amyloidosis DOID:0080935 immunoglobulin heavy-and-light chain -DOID:0080933 immunoglobulin light chain amyloidosis DOID:0081278 infant-type hemispheric glioma -DOID:0080716 infantile liver failure syndrome DOID:0081239 injection anthrax -DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081262 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081301 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0080812 intermittent asthma @@ -465,18 +323,13 @@ DOID:0080970 intracranial berry aneurysm 7 DOID:0080971 intracranial berry aneurysm 8 DOID:0080972 intracranial berry aneurysm 9 DOID:0080842 intracranial meningioma -DOID:0081311 intravascular large B-cell lymphoma -DOID:0081105 keratosis palmoplantaris striata DOID:0081108 keratosis palmoplantaris striata 1 DOID:0080752 keratosis pilaris atrophicans faciei DOID:0080616 kidney cortex disease DOID:0080846 latent autoimmune diabetes in adults -DOID:0080492 leukocyte adhesion deficiency 2 DOID:0080894 lipofibromatosis-like neural tumor -DOID:0112230 lissencephaly 5 DOID:0112236 lissencephaly 6 DOID:0111815 low molecular weight proteinuria with hypercalciuric nephrocalcinosis -DOID:0081307 lymphomatoid granulomatosis DOID:60004 malignant cystadenoma DOID:0081128 mandibuloacral dysplasia type A lipodystrophy DOID:0081129 mandibuloacral dysplasia type B lipodystrophy @@ -497,12 +350,7 @@ DOID:0081039 mixed phenotype acute leukemia, T/myeloid DOID:0111966 monocyte, dendritic cell, and NK cell deficiency DOID:0080782 mucinous pancreas adenocarcinoma DOID:0080678 mucolipidosis III gamma -DOID:0080991 multiminicore disease DOID:0081303 multinodular and vacuolating neuronal tumor -DOID:0081317 multiple synostoses syndrome 1 -DOID:0081318 multiple synostoses syndrome 2 -DOID:0081319 multiple synostoses syndrome 3 -DOID:0081320 multiple synostoses syndrome 4 DOID:070355 multisystem proteinopathy DOID:0112375 muscular dystrophy-dystroglycanopathy type B DOID:0112377 muscular dystrophy-dystroglycanopathy type B14 @@ -510,24 +358,15 @@ DOID:0112376 muscular dystrophy-dystroglycanopathy type B15 DOID:0112380 muscular dystrophy-dystroglycanopathy type B2 DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 DOID:0112379 muscular dystrophy-dystroglycanopathy type B4 -DOID:0112381 muscular dystrophy-dystroglycanopathy type C12 -DOID:0112382 muscular dystrophy-dystroglycanopathy type C8 -DOID:0112011 mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0080798 myeloid leukemia associated with Down Syndrome DOID:0081285 myxoid glioneuronal tumor DOID:0080823 near-fatal asthma DOID:0070341 neonatal-onset type II citrullinemia DOID:0081061 nephrogenic diabetes insipidus type 2 -DOID:0081099 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies DOID:0081275 neurodevelopmental disorder with eye movement abnormalities and ataxia -DOID:0081263 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081324 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss -DOID:0081327 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures -DOID:0081294 neuronal intranuclear inclusion disease DOID:0080826 nocturnal asthma -DOID:0080546 non-alcoholic fatty liver DOID:0081014 non-severe COVID-19 -DOID:0112038 non-syndromic X-linked intellectual disability 1 DOID:0112040 non-syndromic X-linked intellectual disability 100 DOID:0112048 non-syndromic X-linked intellectual disability 101 DOID:0112020 non-syndromic X-linked intellectual disability 103 @@ -585,7 +424,6 @@ DOID:0112078 nuclear type mitochondrial complex I deficiency 17 DOID:0112070 nuclear type mitochondrial complex I deficiency 18 DOID:0112085 nuclear type mitochondrial complex I deficiency 19 DOID:0112083 nuclear type mitochondrial complex I deficiency 2 -DOID:0112072 nuclear type mitochondrial complex I deficiency 20 DOID:0112088 nuclear type mitochondrial complex I deficiency 21 DOID:0112069 nuclear type mitochondrial complex I deficiency 22 DOID:0112087 nuclear type mitochondrial complex I deficiency 23 @@ -608,44 +446,26 @@ DOID:0112066 nuclear type mitochondrial complex I deficiency 6 DOID:0112092 nuclear type mitochondrial complex I deficiency 7 DOID:0112081 nuclear type mitochondrial complex I deficiency 8 DOID:0112073 nuclear type mitochondrial complex I deficiency 9 -DOID:0081296 oculopharyngodistal myopathy -DOID:0081297 oculopharyngodistal myopathy 1 -DOID:0081298 oculopharyngodistal myopathy 2 -DOID:0081299 oculopharyngodistal myopathy 3 -DOID:0081300 oculopharyngodistal myopathy 4 DOID:0070311 oligoasthenoteratozoospermia DOID:0081281 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 DOID:0081282 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 -DOID:0080844 omodysplasia 1 DOID:0080845 omodysplasia 2 DOID:0080900 oral rhabdomyosarcoma DOID:0080407 orofacial cleft 14 DOID:0111848 osteogenesis imperfecta type 18 DOID:0111847 osteogenesis imperfecta type 19 DOID:0111849 osteogenesis imperfecta type 20 -DOID:0112201 osteogenesis imperfecta type 21 -DOID:0070355 overactive bladder syndrome -DOID:0081326 oxoglutarate dehydrogenase deficiency -DOID:0081266 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures -DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 -DOID:0081283 papillary glioneuronal tumor DOID:0080841 pemphigoid -DOID:0081274 peroxisome biogenesis disorder 14B DOID:0081241 peroxisome biogenesis disorder 3B DOID:0080813 persistent mild asthma DOID:0080814 persistent moderate asthma DOID:0080824 persistent severe asthma -DOID:0111933 phosphoglycerate kinase 1 deficiency -DOID:0081280 pituicytoma DOID:0112009 pituitary adenoma 1 -DOID:0112010 pituitary adenoma 3 -DOID:0112008 pituitary adenoma 5 DOID:0081244 pituitary blastoma DOID:0080881 pleomorphic xanthoastrocytoma BRAF mutant DOID:0080577 polygenic disease DOID:0081305 polymorphous low grade neuroepithelial tumour of the young DOID:0112324 pontocerebellar hypoplasia type 11 -DOID:0112327 pontocerebellar hypoplasia type 12 DOID:0112332 pontocerebellar hypoplasia type 13 DOID:0112325 pontocerebellar hypoplasia type 14 DOID:0112326 pontocerebellar hypoplasia type 15 @@ -669,11 +489,9 @@ DOID:0111856 primary ciliary dyskinesia 43 DOID:0111851 primary ciliary dyskinesia 44 DOID:0111857 primary ciliary dyskinesia 45 DOID:0112138 primary coenzyme Q10 deficiency 9 -DOID:0081313 primary diffuse large B-cell lymphoma of the central nervous system DOID:0081316 primary intracranial sarcoma, DICER1-mutant DOID:0080930 primary localized cutaneous amyloidosis 1 DOID:0080931 primary localized cutaneous amyloidosis 2 -DOID:0080857 primary ovarian insufficiency 1 DOID:0080867 primary ovarian insufficiency 10 DOID:0080868 primary ovarian insufficiency 11 DOID:0080869 primary ovarian insufficiency 12 @@ -682,8 +500,6 @@ DOID:0080871 primary ovarian insufficiency 14 DOID:0080872 primary ovarian insufficiency 15 DOID:0080873 primary ovarian insufficiency 16 DOID:0080874 primary ovarian insufficiency 17 -DOID:0112269 primary ovarian insufficiency 18 -DOID:0112278 primary ovarian insufficiency 19 DOID:0080858 primary ovarian insufficiency 2A DOID:0080859 primary ovarian insufficiency 2B DOID:0080860 primary ovarian insufficiency 3 @@ -693,33 +509,22 @@ DOID:0080863 primary ovarian insufficiency 6 DOID:0080864 primary ovarian insufficiency 7 DOID:0080865 primary ovarian insufficiency 8 DOID:0080866 primary ovarian insufficiency 9 +DOID:0081332 progeroid syndrome DOID:0111452 progressive myoclonus epilepsy 1A -DOID:0111444 progressive myoclonus epilepsy 4 -DOID:0080719 proximal myopathy and ophthalmoplegia DOID:0080787 proximal symphalangism 1 DOID:0080788 proximal symphalangism 2 DOID:60001 pulmonary artery disease -DOID:0081268 pulmonary venoocclusive disease 1 -DOID:0081269 pulmonary venoocclusive disease 2 DOID:0080687 reducing body myopathy 1B +DOID:0070369 restrictive dermopathy 1 +DOID:0070370 restrictive dermopathy 2 DOID:0080992 rhabdomyolysis-myalgia syndrome DOID:0081243 rhizomelic chondrodysplasia punctate type 4 -DOID:0081284 rosette-forming glioneuronal tumor -DOID:0081293 salivary gland mucoepidermoid carcinoma DOID:0081013 severe COVID-19 -DOID:0111932 severe congenital encephalopathy due to MECP2 mutation DOID:0112131 severe congenital neutropenia 2 -DOID:0112133 severe congenital neutropenia 3 -DOID:0112136 severe congenital neutropenia 4 -DOID:0112132 severe congenital neutropenia 5 -DOID:0112134 severe congenital neutropenia 6 -DOID:0112129 severe congenital neutropenia 7 DOID:0112135 severe congenital neutropenia 8 DOID:0080306 solid adenocarcinoma with mucin production DOID:0080897 solitary fibrous tumor/hemangiopericytoma -DOID:0081100 spastic paraplegia with deafness DOID:0112272 spermatogenic failure 50 -DOID:0111156 spermatogenic failure 9 DOID:0080667 spinal muscular atrophy type 0 DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 DOID:0070349 spinal muscular atrophy with lower extremity predominant 2A @@ -734,36 +539,23 @@ DOID:0112283 spondyloepiphyseal dysplasia Kondo-Fu type DOID:0112288 spondyloepiphyseal dysplasia Nishimura type DOID:0112281 spondyloepiphyseal dysplasia Stanescu type DOID:0112292 spondyloepiphyseal dysplasia tarda with intellectual disability -DOID:0112287 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech -DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type -DOID:0112296 spondylometaphyseal dysplasia Algerian type DOID:0112302 spondylometaphyseal dysplasia East African type DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type DOID:0112298 spondylometaphyseal dysplasia Sedaghatian type DOID:0112297 spondylometaphyseal dysplasia corner fracture type DOID:0112301 spondylometaphyseal dysplasia type A4 -DOID:0112305 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism -DOID:0112300 spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0080890 supratentorial ependymoma DOID:0081253 supratentorial ependymoma, YAP1 fusion–positive DOID:0081252 supratentorial ependymoma, ZFTA fusion–positive DOID:0080843 supratentorial meningioma DOID:0080985 syndromic X-linked intellectual disorder Lujan-Fryns-type -DOID:0111812 syndromic microphthalmia 10 DOID:0111804 syndromic microphthalmia 11 DOID:0111800 syndromic microphthalmia 12 -DOID:0111811 syndromic microphthalmia 13 -DOID:0111809 syndromic microphthalmia 2 -DOID:0111806 syndromic microphthalmia 5 -DOID:0111805 syndromic microphthalmia 6 DOID:0081246 teratoma with somatic-type malignancy DOID:0080371 testicular sex cord-stromal benign neoplasm -DOID:0112185 thyroid dyshormonogenesis 1 -DOID:0080778 transient infantile liver failure DOID:0081292 traumatic brain injury DOID:0080995 tuberculous encephalopathy DOID:0080686 tubular aggregate myopathy 2 -DOID:0112180 urocanase deficiency DOID:0080856 vascular Parkinsonism DOID:0080886 vitamin D-dependent rickets type 1A DOID:0080887 vitamin D-dependent rickets type 1B @@ -771,6 +563,3 @@ DOID:0080884 vitamin D-dependent rickets type 2A DOID:0080885 vitamin D-dependent rickets type 2B DOID:0080665 warfarin resistance DOID:0080666 warfarin sensitivity -DOID:0081287 white sponge nevus 1 -DOID:0081288 white sponge nevus 2 -DOID:0111820 zygodactyly 1 diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index 0f10ddc6..b7d9c0df 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -2798,6 +2798,9 @@ + + + @@ -4079,6 +4082,13 @@ + + + + + + + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index e6f295c6..f886284e 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -37682,6 +37682,7 @@ + @@ -38310,25 +38311,161 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -38338,7 +38475,11 @@ + + + + @@ -38346,15 +38487,22 @@ + + + + + + + @@ -38363,6 +38511,20 @@ + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv b/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv index 9ddc89f4..ab84ce58 100644 --- a/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv +++ b/src/ontology/reports/mondo-ingest-edit.owl-obo-report.tsv @@ -3497,8 +3497,6 @@ ERROR duplicate_label NCIT:C25703 rdfs:label Term ERROR duplicate_label NCIT:C45559 rdfs:label Term ERROR duplicate_label NCIT:C71697 rdfs:label Teprotumumab ERROR duplicate_label NCIT:C95797 rdfs:label Teprotumumab -ERROR duplicate_label NCBITaxon:544448 rdfs:label Tenericutes -ERROR duplicate_label NCIT:C85860 rdfs:label Tenericutes ERROR duplicate_label DOID:0111621 rdfs:label Temtamy syndrome ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_1777 rdfs:label Temtamy syndrome ERROR duplicate_label DOID:0050814 rdfs:label temtamy preaxial brachydactyly syndrome @@ -3711,8 +3709,6 @@ ERROR duplicate_label DOID:0090116 rdfs:label spondylocarpotarsal synostosis syn ERROR duplicate_label https://omim.org/entry/272460 rdfs:label spondylocarpotarsal synostosis syndrome ERROR duplicate_label DOID:6590 rdfs:label spondylitis ERROR duplicate_label SYMP:0019171 rdfs:label spondylitis -ERROR duplicate_label NCBITaxon:203691 rdfs:label Spirochaetes -ERROR duplicate_label NCIT:C76206 rdfs:label Spirochaetes ERROR duplicate_label DOID:0111527 rdfs:label spinal muscular atrophy with progressive myoclonic epilepsy ERROR duplicate_label https://omim.org/entry/159950 rdfs:label spinal muscular atrophy with progressive myoclonic epilepsy ERROR duplicate_label http://purl.bioontology.org/ontology/ICD10CM/M53.2 rdfs:label Spinal instabilities@en @@ -4537,8 +4533,6 @@ ERROR duplicate_label NCIT:C82273 rdfs:label Prothrombin ERROR duplicate_label NCIT:C82854 rdfs:label Prothrombin ERROR duplicate_label DOID:13482 rdfs:label Proteus syndrome ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_744 rdfs:label Proteus syndrome -ERROR duplicate_label NCBITaxon:1224 rdfs:label Proteobacteria -ERROR duplicate_label NCIT:C76196 rdfs:label Proteobacteria ERROR duplicate_label DOID:576 rdfs:label proteinuria ERROR duplicate_label SYMP:0000367 rdfs:label proteinuria ERROR duplicate_label NCIT:C19580 rdfs:label Protein Phosphatase 2A @@ -8216,6 +8210,8 @@ ERROR duplicate_label DOID:0050450 rdfs:label Gitelman syndrome ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_358 rdfs:label Gitelman syndrome ERROR duplicate_label DOID:2739 rdfs:label Gilbert syndrome ERROR duplicate_label https://icd.who.int/browse10/2019/en#/E80.4 rdfs:label Gilbert syndrome +ERROR duplicate_label NCBITaxon:5740 rdfs:label Giardia +ERROR duplicate_label NCIT:C77213 rdfs:label Giardia ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_643 rdfs:label Giant axonal neuropathy ERROR duplicate_label https://www.omim.org/phenotypicSeries/PS256850 rdfs:label Giant axonal neuropathy ERROR duplicate_label DOID:4249 rdfs:label Gerstmann-Straussler-Scheinker syndrome @@ -8276,8 +8272,6 @@ ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_352 rdfs:label Galactos ERROR duplicate_label https://www.omim.org/phenotypicSeries/PS230400 rdfs:label Galactosemia ERROR duplicate_label NCIT:C128640 rdfs:label Gadopiclenol ERROR duplicate_label NCIT:C170017 rdfs:label Gadopiclenol -ERROR duplicate_label NCBITaxon:32066 rdfs:label Fusobacteria -ERROR duplicate_label NCIT:C76321 rdfs:label Fusobacteria ERROR duplicate_label http://purl.bioontology.org/ontology/ICD10CM/L02.82 rdfs:label Furuncle of other sites@en ERROR duplicate_label http://purl.bioontology.org/ontology/ICD10CM/L02.828 rdfs:label Furuncle of other sites@en ERROR duplicate_label DOID:11105 rdfs:label fundus albipunctatus @@ -8375,8 +8369,6 @@ ERROR duplicate_label NCBITaxon:11050 rdfs:label Flaviviridae ERROR duplicate_label NCIT:C113201 rdfs:label Flaviviridae ERROR duplicate_label NCIT:C32280 rdfs:label Fissure of Rolando ERROR duplicate_label NCIT:C32614 rdfs:label Fissure of Rolando -ERROR duplicate_label NCBITaxon:1239 rdfs:label Firmicutes -ERROR duplicate_label NCIT:C76197 rdfs:label Firmicutes ERROR duplicate_label http://purl.bioontology.org/ontology/ICD10CM/R78.8 rdfs:label Finding of other specified substances, not normally found in blood@en ERROR duplicate_label http://purl.bioontology.org/ontology/ICD10CM/R78.89 rdfs:label Finding of other specified substances, not normally found in blood@en ERROR duplicate_label http://purl.bioontology.org/ontology/ICD10CM/R78.7 rdfs:label Finding of abnormal level of heavy metals in blood@en @@ -9752,8 +9744,6 @@ ERROR duplicate_label http://www.orpha.net/ORDO/Orphanet_137914 rdfs:label Choan ERROR duplicate_label https://icd.who.int/browse10/2019/en#/Q30.0 rdfs:label Choanal atresia ERROR duplicate_label NCIT:C61672 rdfs:label Chlorpheniramine Polistirex ERROR duplicate_label NCIT:C77433 rdfs:label Chlorpheniramine Polistirex -ERROR duplicate_label NCBITaxon:204428 rdfs:label Chlamydiae -ERROR duplicate_label NCIT:C76270 rdfs:label Chlamydiae ERROR duplicate_label NCBITaxon:809 rdfs:label Chlamydiaceae ERROR duplicate_label NCIT:C85978 rdfs:label Chlamydiaceae ERROR duplicate_label NCBITaxon:813 rdfs:label Chlamydia trachomatis @@ -10713,8 +10703,6 @@ ERROR duplicate_label NCBITaxon:1659 rdfs:label Actinomyces israelii ERROR duplicate_label NCIT:C86108 rdfs:label Actinomyces israelii ERROR duplicate_label NCBITaxon:1654 rdfs:label Actinomyces ERROR duplicate_label NCIT:C76201 rdfs:label Actinomyces -ERROR duplicate_label NCBITaxon:201174 rdfs:label Actinobacteria -ERROR duplicate_label NCIT:C76195 rdfs:label Actinobacteria ERROR duplicate_label NCBITaxon:723 rdfs:label Actinobacillus ureae ERROR duplicate_label NCIT:C86103 rdfs:label Actinobacillus ureae ERROR duplicate_label NCBITaxon:713 rdfs:label Actinobacillus @@ -11943,8 +11931,6 @@ ERROR misused_obsolete_label NCIT:C43634 rdfs:label Obsolete Concept ERROR misused_obsolete_label NCIT:C63553 rdfs:label Obsolete ERROR multiple_labels IAO:0000115 rdfs:label definition ERROR multiple_labels IAO:0000115 rdfs:label definition@en -ERROR multiple_labels NCBITaxon:1 rdfs:label ncbitaxon -ERROR multiple_labels NCBITaxon:1 rdfs:label root ERROR multiple_labels NCIT:C163032 rdfs:label Botulinum Toxin ERROR multiple_labels NCIT:C163032 rdfs:label botulinum toxin ERROR multiple_labels oboInOwl:hasDbXref rdfs:label database_cross_reference @@ -64791,7 +64777,6 @@ WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E51.2 WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E71.440 oboInOwl:hasExactSynonym Ruvalcaba-Myhre-Smith syndrome@en WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E71.52 oboInOwl:hasExactSynonym X-linked adrenoleukodystrophy@en WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E72.51 oboInOwl:hasExactSynonym Non-ketotic hyperglycinemia@en -WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E74.01 oboInOwl:hasExactSynonym von Gierke disease@en WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E74.02 oboInOwl:hasExactSynonym Pompe disease@en WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E74.03 oboInOwl:hasExactSynonym Cori disease@en WARN duplicate_label_synonym http://purl.bioontology.org/ontology/ICD10CM/E74.04 oboInOwl:hasExactSynonym McArdle disease@en @@ -191511,6 +191496,9 @@ WARN missing_definition DOID:0070359 IAO:0000115 WARN missing_definition DOID:0070360 IAO:0000115 WARN missing_definition DOID:0070361 IAO:0000115 WARN missing_definition DOID:0070362 IAO:0000115 +WARN missing_definition DOID:0070368 IAO:0000115 +WARN missing_definition DOID:0070369 IAO:0000115 +WARN missing_definition DOID:0070370 IAO:0000115 WARN missing_definition DOID:0080000 IAO:0000115 WARN missing_definition DOID:0080001 IAO:0000115 WARN missing_definition DOID:0080005 IAO:0000115 @@ -192264,7 +192252,6 @@ WARN missing_definition DOID:0110067 IAO:0000115 WARN missing_definition DOID:0110068 IAO:0000115 WARN missing_definition DOID:0110069 IAO:0000115 WARN missing_definition DOID:0110070 IAO:0000115 -WARN missing_definition DOID:0110071 IAO:0000115 WARN missing_definition DOID:0110072 IAO:0000115 WARN missing_definition DOID:0110073 IAO:0000115 WARN missing_definition DOID:0110074 IAO:0000115 @@ -196076,7 +196063,6 @@ WARN missing_definition DOID:1587 IAO:0000115 WARN missing_definition DOID:1588 IAO:0000115 WARN missing_definition DOID:1591 IAO:0000115 WARN missing_definition DOID:1595 IAO:0000115 -WARN missing_definition DOID:1596 IAO:0000115 WARN missing_definition DOID:16 IAO:0000115 WARN missing_definition DOID:1607 IAO:0000115 WARN missing_definition DOID:161 IAO:0000115 @@ -196599,7 +196585,6 @@ WARN missing_definition DOID:2841 IAO:0000115 WARN missing_definition DOID:2842 IAO:0000115 WARN missing_definition DOID:2843 IAO:0000115 WARN missing_definition DOID:2846 IAO:0000115 -WARN missing_definition DOID:2848 IAO:0000115 WARN missing_definition DOID:285 IAO:0000115 WARN missing_definition DOID:2856 IAO:0000115 WARN missing_definition DOID:2859 IAO:0000115 @@ -421728,6 +421713,7 @@ INFO missing_superclass HP:0006530 rdfs:subClassOf INFO missing_superclass HP:0006685 rdfs:subClassOf INFO missing_superclass HP:0006817 rdfs:subClassOf INFO missing_superclass HP:0007431 rdfs:subClassOf +INFO missing_superclass HP:0007495 rdfs:subClassOf INFO missing_superclass HP:0007858 rdfs:subClassOf INFO missing_superclass HP:0008873 rdfs:subClassOf INFO missing_superclass HP:0009804 rdfs:subClassOf @@ -421748,6 +421734,7 @@ INFO missing_superclass HP:0012759 rdfs:subClassOf INFO missing_superclass HP:0031158 rdfs:subClassOf INFO missing_superclass HP:0031652 rdfs:subClassOf INFO missing_superclass HP:0032245 rdfs:subClassOf +INFO missing_superclass HP:0032252 rdfs:subClassOf INFO missing_superclass HP:0040126 rdfs:subClassOf INFO missing_superclass HP:0100034 rdfs:subClassOf INFO missing_superclass HP:0100035 rdfs:subClassOf @@ -421921,6 +421908,7 @@ INFO missing_superclass NCBITaxon:35792 rdfs:subClassOf INFO missing_superclass NCBITaxon:35793 rdfs:subClassOf INFO missing_superclass NCBITaxon:36087 rdfs:subClassOf INFO missing_superclass NCBITaxon:36330 rdfs:subClassOf +INFO missing_superclass NCBITaxon:36469 rdfs:subClassOf INFO missing_superclass NCBITaxon:36826 rdfs:subClassOf INFO missing_superclass NCBITaxon:36827 rdfs:subClassOf INFO missing_superclass NCBITaxon:36830 rdfs:subClassOf @@ -422311,6 +422299,7 @@ INFO missing_superclass SO:1000029 rdfs:subClassOf INFO missing_superclass SO:1000035 rdfs:subClassOf INFO missing_superclass SO:1000044 rdfs:subClassOf INFO missing_superclass SO:1000183 rdfs:subClassOf +INFO missing_superclass SYMP:0000000 rdfs:subClassOf INFO missing_superclass SYMP:0000001 rdfs:subClassOf INFO missing_superclass SYMP:0000002 rdfs:subClassOf INFO missing_superclass SYMP:0000005 rdfs:subClassOf @@ -422341,6 +422330,7 @@ INFO missing_superclass SYMP:0000075 rdfs:subClassOf INFO missing_superclass SYMP:0000082 rdfs:subClassOf INFO missing_superclass SYMP:0000083 rdfs:subClassOf INFO missing_superclass SYMP:0000086 rdfs:subClassOf +INFO missing_superclass SYMP:0000090 rdfs:subClassOf INFO missing_superclass SYMP:0000092 rdfs:subClassOf INFO missing_superclass SYMP:0000093 rdfs:subClassOf INFO missing_superclass SYMP:0000094 rdfs:subClassOf @@ -422369,6 +422359,7 @@ INFO missing_superclass SYMP:0000187 rdfs:subClassOf INFO missing_superclass SYMP:0000188 rdfs:subClassOf INFO missing_superclass SYMP:0000208 rdfs:subClassOf INFO missing_superclass SYMP:0000210 rdfs:subClassOf +INFO missing_superclass SYMP:0000213 rdfs:subClassOf INFO missing_superclass SYMP:0000222 rdfs:subClassOf INFO missing_superclass SYMP:0000225 rdfs:subClassOf INFO missing_superclass SYMP:0000226 rdfs:subClassOf @@ -422548,6 +422539,7 @@ INFO missing_superclass SYMP:0000868 rdfs:subClassOf INFO missing_superclass SYMP:0000876 rdfs:subClassOf INFO missing_superclass SYMP:0000879 rdfs:subClassOf INFO missing_superclass SYMP:0000882 rdfs:subClassOf +INFO missing_superclass SYMP:0000890 rdfs:subClassOf INFO missing_superclass SYMP:0000895 rdfs:subClassOf INFO missing_superclass SYMP:0000896 rdfs:subClassOf INFO missing_superclass SYMP:0000900 rdfs:subClassOf @@ -422595,6 +422587,7 @@ INFO missing_superclass SYMP:0020030 rdfs:subClassOf INFO missing_superclass SYMP:0020031 rdfs:subClassOf INFO missing_superclass SYMP:0020032 rdfs:subClassOf INFO missing_superclass SYMP:0020035 rdfs:subClassOf +INFO missing_superclass SYMP:0020036 rdfs:subClassOf INFO missing_superclass SYMP:0020037 rdfs:subClassOf INFO missing_superclass SYMP:0020038 rdfs:subClassOf INFO missing_superclass SYMP:0020039 rdfs:subClassOf diff --git a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv index 83cc9241..cd2b4475 100644 --- a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs.tsv @@ -49,6 +49,7 @@ NCIT:C3241 Mucocele of the Appendix True False True True NCIT:C35548 Monoclonal Gammopathy True False True True NCIT:C34820 Miliaria True False True True NCIT:C120394 Melanocortin 4 Receptor Deficiency True False True True +NCIT:C34802 Malignant Essential Hypertension True False True True NCIT:C60672 MALT1 wt Allele True False True True NCIT:C35371 Lytic Metastatic Bone Lesion True False True True NCIT:C50764 Lymphadenopathy True False True True diff --git a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv index 9fc3d511..b3b1328e 100644 --- a/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/ncit_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -116 0.0007 +117 0.0007 diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 2df9c29e..e57a64f3 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,226 +1,66 @@ subject_id subject_label is_mapped is_excluded is_deprecated OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant False False False +OMIM:160150 myopathy, centronuclear, 1 False False False OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to False False False -OMIM:301069 chromosome xq13 duplication syndrome False False False OMIM:301071 thrombophilia, x-linked, due to factor 8 defect False False False -OMIM:301080 systemic lupus erythematosus 17 False False False OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features False False False -OMIM:301094 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked False False False -OMIM:301099 spermatogenic failure, x-linked, 5 False False False -OMIM:301101 spermatogenic failure, x-linked, 6 False False False OMIM:606215 atrioventricular septal defect False False False OMIM:606963 pulmonary disease, chronic obstructive False False False OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 False False False -OMIM:619268 alzahrani-kuwahara syndrome False False False -OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia False False False OMIM:619290 mahvash disease False False False -OMIM:619293 blepharophimosis-impaired intellectual development syndrome False False False -OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia False False False -OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome False False False -OMIM:619312 radio-tartaglia syndrome False False False -OMIM:619314 buratti-harel syndrome False False False -OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies False False False -OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth False False False OMIM:619324 hypertriglyceridemia 2 False False False OMIM:619329 fibromuscular dysplasia, multifocal False False False -OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction False False False -OMIM:619343 chromosome 1p36 deletion syndrome, proximal False False False OMIM:619345 dysostosis multiplex, ain-naz iia False False False -OMIM:619350 visceral myopathy 2 False False False -OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset False False False -OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy False False False -OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 False False False -OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome False False False -OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms False False False -OMIM:619376 faundes-banka syndrome False False False -OMIM:619377 osteootohepatoenteric syndrome False False False -OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities False False False OMIM:619400 visceral leiomyopathy, african degenerative False False False OMIM:619406 hypokalemic tubulopathy and deafness False False False -OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy False False False -OMIM:619426 white-kernohan syndrome False False False OMIM:619446 retinal dystrophy and microvillus inclusion disease False False False -OMIM:619460 luo-schoch-yamamoto syndrome False False False OMIM:619462 hemolytic disease of fetus and newborn, rh-induced False False False -OMIM:619464 sick sinus syndrome 4 False False False -OMIM:619467 usmani-riazuddin syndrome, autosomal dominant False False False -OMIM:619468 nephronophthisis-like nephropathy 2 False False False -OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities False False False -OMIM:619472 viss syndrome False False False -OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities False False False -OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum False False False -OMIM:619481 bile acid malabsorption, primary, 2 False False False -OMIM:619488 degcags syndrome False False False -OMIM:619489 short stature, dauber-argente iia False False False -OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to False False False OMIM:619501 ventriculomegaly and arthrogryposis False False False -OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies False False False -OMIM:619504 chopra-amiel-gordon syndrome False False False -OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities False False False -OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities False False False -OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome False False False -OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities False False False -OMIM:619534 biliary, renal, neurologic, and skeletal syndrome False False False OMIM:619538 cerebral cavernous malformations 4 False False False -OMIM:619539 neuroocular syndrome False False False -OMIM:619543 boudin-mortier syndrome False False False OMIM:619545 hypoplastic femurs and pelvis False False False -OMIM:619548 usmani-riazuddin syndrome, autosomal recessive False False False -OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies False False False -OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies False False False -OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities False False False -OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects False False False -OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures False False False -OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities False False False OMIM:619598 rhizomelic dysplasia, ain-naz iia False False False -OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies False False False OMIM:619613 delayed puberty, self-limited False False False -OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity False False False -OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay False False False -OMIM:619641 hengel-maroofian-schols syndrome False False False -OMIM:619648 zaki syndrome False False False -OMIM:619649 chromosome 16q12 duplication syndrome False False False -OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia False False False -OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus False False False OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy False False False -OMIM:619680 marbach-schaaf neurodevelopmental syndrome False False False -OMIM:619681 dystonia, early-onset, and/or spastic paraplegia False False False -OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis False False False -OMIM:619690 brunet-wagner neurodevelopmental syndrome False False False -OMIM:619694 developmental delay with variable neurologic and brain abnormalities False False False -OMIM:619695 rauch-steindl syndrome False False False -OMIM:619699 ferguson-bonni neurodevelopmental syndrome False False False -OMIM:619701 yoon-bellen neurodevelopmental syndrome False False False OMIM:619702 heterotaxy, visceral, 12, autosomal False False False -OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant False False False -OMIM:619719 intellectual disability and myopathy syndrome False False False -OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities False False False OMIM:619727 craniotubular dysplasia, ikegawa iia False False False -OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism False False False -OMIM:619762 kury-isidor syndrome False False False OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin False False False -OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies False False False OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia False False False -OMIM:619824 agammaglobulinemia 8b, autosomal recessive False False False -OMIM:619832 auditory neuropathy, autosomal dominant 3 False False False -OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities False False False -OMIM:619835 3-methylglutaconic aciduria, iia 7a False False False OMIM:619836 hypoalphalipoproteinemia, primary, 2, intermediate False False False -OMIM:619841 chilton-okur-chung neurodevelopmental syndrome False False False -OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy False False False -OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly False False False -OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities False False False -OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency False False False OMIM:619864 leukodystrophy, childhood-onset, remitting False False False -OMIM:619869 neurocardiofaciodigital syndrome False False False OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet False False False -OMIM:619873 parenti-mignot neurodevelopmental syndrome False False False -OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures False False False -OMIM:619877 dentici-novelli neurodevelopmental syndrome False False False -OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies False False False -OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay False False False OMIM:619902 hepatorenocardiac degenerative fibrosis False False False -OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive False False False -OMIM:619908 neurodevelopmental disorder with language delay and seizures False False False -OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism False False False -OMIM:619922 neurodevelopmental disorder with dystonia and seizures False False False -OMIM:619955 dworschak-punetha neurodevelopmental syndrome False False False -OMIM:619957 attention deficit-hyperactivity disorder 8 False False False -OMIM:619959 acces syndrome False False False -OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures False False False OMIM:619967 congenital myopathy 11 False False False -OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy False False False -OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy False False False -OMIM:619975 tumor predisposition syndrome 2 False False False OMIM:619977 macular dystrophy, retinal, 4 False False False OMIM:619980 braddock-carey syndrome 1 False False False OMIM:619981 braddock-carey syndrome 2 False False False OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 False False False -OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies False False False OMIM:619991 liver disease, severe congenital False False False -OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies False False False -OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities False False False -OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome False False False -OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects False False False -OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive False False False -OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 False False False -OMIM:620012 developmental delay, hypotonia, and impaired language False False False OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies False False False -OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures False False False -OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities False False False OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects False False False -OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay False False False -OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures False False False -OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language False False False -OMIM:620044 bone marrow failure and diabetes mellitus syndrome False False False OMIM:620045 intestinal dysmotility syndrome False False False OMIM:620058 familial apolipoprotein gene cluster deletion syndrome False False False -OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders False False False -OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment False False False OMIM:620067 cardiac valvular dysplasia 2 False False False -OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties False False False -OMIM:620071 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss False False False -OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities False False False -OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly False False False OMIM:620076 bent bone dysplasia syndrome 2 False False False -OMIM:620080 neuronopathy, distal hereditary motor, iia 10 False False False -OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects False False False OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 False False False -OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features False False False -OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction False False False -OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia False False False -OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies False False False OMIM:620099 cleidocranial dysplasia 2 False False False -OMIM:620107 orofaciodigital syndrome 19 False False False -OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities False False False -OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures False False False OMIM:620116 fatty liver disease, protection from False False False -OMIM:620121 iron overload, susceptibility to False False False -OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive False False False -OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive False False False OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis False False False -OMIM:620141 developmental delay, language impairment, and ocular abnormalities False False False OMIM:620148 ichthyosis, annular epidermolytic, 2 False False False -OMIM:620154 oocyte maturation defect 13 False False False -OMIM:620155 rabin-pappas syndrome False False False OMIM:620161 congenital myopathy 15 False False False OMIM:620166 muscular dystrophy, congenital, with or without seizures False False False OMIM:620184 atelis syndrome 1 False False False OMIM:620185 atelis syndrome 2 False False False -OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome False False False -OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities False False False OMIM:620192 lacrimoauriculodentodigital syndrome 2 False False False OMIM:620193 lacrimoauriculodentodigital syndrome 3 False False False -OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies False False False -OMIM:620195 obesity and hypopigmentation False False False OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses False False False OMIM:620207 blood group, er False False False -OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia False False False -OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures False False False -OMIM:620231 short qt syndrome 7 False False False -OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma False False False OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea False False False -OMIM:620235 rhabdomyolysis, susceptibility to, 1 False False False -OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities False False False -OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities False False False OMIM:620246 congenital myopathy 18 False False False OMIM:620249 congenital myopathy 10b, mild variant False False False -OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum False False False OMIM:620265 congenital myopathy 2b, severe infantile, autosomal recessive False False False OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia False False False -OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities False False False -OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 False False False -OMIM:620276 oocyte maturation defect 14 False False False -OMIM:620277 spermatogenic failure 81 False False False OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant False False False -OMIM:620280 deafness, autosomal dominant 86 False False False -OMIM:620281 deafness, autosomal dominant 87 False False False OMIM:620282 immunodeficiency 109 with lymphoproliferation False False False -OMIM:620283 deafness, autosomal dominant 88 False False False -OMIM:620284 deafness, autosomal dominant 89 False False False -OMIM:620285 amyotrophic lateral sclerosis 27, juvenile False False False -OMIM:620286 myopathy, sarcoplasmic body False False False -OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures False False False OMIM:620294 congenital heart defects, multiple types, 9 False False False OMIMPS:117000 False False False OMIMPS:267750 False False False @@ -19538,7 +19378,6 @@ OMIM:159900 dystonia 11, myoclonic True False False OMIM:159950 spinal muscular atrophy with progressive myoclonic epilepsy True False False OMIM:160010 myoglobinuria, autosomal dominant True False False OMIM:160120 episodic ataxia, iia 1 True False False -OMIM:160150 myopathy, centronuclear, 1 True False False OMIM:160300 myopathy, distal, infantile-onset True False False OMIM:160500 myopathy, distal, 1 True False False OMIM:160565 myopathy, tubular aggregate, 1 True False False @@ -21192,16 +21031,21 @@ OMIM:301059 spermatogenic failure, x-linked, 3 True False False OMIM:301060 azoospermia, obstructive, with nephrolithiasis True False False OMIM:301066 intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies True False False OMIM:301068 hardikar syndrome True False False +OMIM:301069 chromosome xq13 duplication syndrome True False False OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis True False False OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 True False False OMIM:301075 myopathy, distal, 7, adult-onset, X-linked True False False OMIM:301076 intellectual developmental disorder, x-linked, syndromic, pilorge iia True False False OMIM:301077 spermatogenic failure, x-linked, 4 True False False OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked True False False +OMIM:301080 systemic lupus erythematosus 17 True False False OMIM:301081 autoinflammatory disease, systemic, X-linked True False False OMIM:301082 immunodeficiency 102 True False False OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to True False False +OMIM:301094 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked True False False OMIM:301095 intellectual developmental disorder, X-linked 110 True False False +OMIM:301099 spermatogenic failure, x-linked, 5 True False False +OMIM:301101 spermatogenic failure, x-linked, 6 True False False OMIM:301200 amelogenesis imperfecta, iia 1e True False False OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 True False False OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked True False False @@ -26224,6 +26068,7 @@ OMIM:619260 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired i OMIM:619263 nephrotic syndrome, iia 24 True False False OMIM:619264 neurodevelopmental disorder with dysmorphic facies and variable seizures True False False OMIM:619267 glanzmann thrombasthenia 2 True False False +OMIM:619268 alzahrani-kuwahara syndrome True False False OMIM:619269 odontochondrodysplasia 2 with hearing loss and diabetes True False False OMIM:619271 bleeding disorder, platelet-type, 24 True False False OMIM:619272 mitochondrial complex 1 deficiency, nuclear iia 37 True False False @@ -26232,27 +26077,42 @@ OMIM:619274 deafness, autosomal dominant 80 True False False OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 True False False OMIM:619279 parkinsonism with polyneuropathy True False False OMIM:619281 immunodeficiency 14b, autosomal recessive True False False +OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia True False False OMIM:619291 dystonia 30 True False False +OMIM:619293 blepharophimosis-impaired intellectual development syndrome True False False OMIM:619297 kinsship syndrome True False False OMIM:619301 pontocerebellar hypoplasia, iia 14 True False False OMIM:619302 pontocerebellar hypoplasia, iia 15 True False False OMIM:619303 pontocerebellar hypoplasia, iia 1e True False False OMIM:619304 pontocerebellar hypoplasia, iia 1f True False False +OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia True False False OMIM:619310 leukodystrophy, hypomyelinating, 21 True False False +OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome True False False +OMIM:619312 radio-tartaglia syndrome True False False OMIM:619313 immunodeficiency 80 with or without congenital cardiomyopathy True False False +OMIM:619314 buratti-harel syndrome True False False OMIM:619317 developmental and epileptic encephalopathy 6b True False False OMIM:619318 oculogastrointestinal neurodevelopmental syndrome True False False OMIM:619319 lymphatic malformation 9 True False False OMIM:619320 intellectual developmental disorder, autosomal dominant 65 True False False +OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies True False False OMIM:619322 marbach-rustad progeroid syndrome True False False +OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth True False False OMIM:619325 coffin-siris syndrome 12 True False False OMIM:619326 bdv syndrome True False False OMIM:619328 leukodystrophy, hypomyelinating, 22 True False False +OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction True False False OMIM:619334 arthrogryposis multiplex congenita 6 True False False OMIM:619338 cataracts, spastic paraparesis, and speech delay True False False OMIM:619339 bartsocas-papas syndrome 2 True False False OMIM:619340 developmental and epileptic encephalopathy 96 True False False +OMIM:619343 chromosome 1p36 deletion syndrome, proximal True False False +OMIM:619350 visceral myopathy 2 True False False OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 True False False +OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset True False False +OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy True False False +OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 True False False +OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome True False False OMIM:619360 angioedema, hereditary, 4 True False False OMIM:619361 angioedema, hereditary, 5 True False False OMIM:619362 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 True False False @@ -26262,12 +26122,16 @@ OMIM:619366 angioedema, hereditary, 7 True False False OMIM:619367 angioedema, hereditary, 8 True False False OMIM:619369 lymphatic malformation 10 True False False OMIM:619371 cardiomyopathy, dilated, 2d True False False +OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms True False False OMIM:619374 immunodeficiency 81 True False False OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency True False False +OMIM:619376 faundes-banka syndrome True False False +OMIM:619377 osteootohepatoenteric syndrome True False False OMIM:619379 spermatogenic failure 54 True False False OMIM:619380 spermatogenic failure 55 True False False OMIM:619381 immunodeficiency 82 with systemic inflammation True False False OMIM:619382 leber hereditary optic neuropathy, autosomal recessive True False False +OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities True False False OMIM:619386 combined oxidative phosphorylation deficiency 52 True False False OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 True False False OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 True False False @@ -26280,7 +26144,9 @@ OMIM:619418 neurologic, endocrine, and pancreatic disease, multisystem, infantil OMIM:619420 martsolf syndrome 2 True False False OMIM:619422 spinocerebellar ataxia, autosomal recessive 31 True False False OMIM:619423 combined oxidative phosphorylation deficiency 53 True False False +OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy True False False OMIM:619425 mitochondrial DNA depletion syndrome 16b (neuroophthalmic type) True False False +OMIM:619426 white-kernohan syndrome True False False OMIM:619428 focal segmental glomerulosclerosis and neurodevelopmental syndrome True False False OMIM:619431 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 True False False OMIM:619433 cardiomyopathy, familial restrictive, 6 True False False @@ -26292,49 +26158,78 @@ OMIM:619445 diarrhea 12, with microvillus atrophy True False False OMIM:619451 cutis laxa, autosomal recessive, iia 2e True False False OMIM:619452 anencephaly 2 True False False OMIM:619453 microcephaly 28, primary, autosomal recessive True False False +OMIM:619460 luo-schoch-yamamoto syndrome True False False OMIM:619461 myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessive True False False OMIM:619463 portal hypertension, noncirrhotic, 2 True False False +OMIM:619464 sick sinus syndrome 4 True False False OMIM:619465 visceral neuropathy, familial, 2, autosomal recessive True False False OMIM:619466 ciliary dyskinesia, primary, 47, and lissencephaly True False False +OMIM:619467 usmani-riazuddin syndrome, autosomal dominant True False False +OMIM:619468 nephronophthisis-like nephropathy 2 True False False +OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities True False False OMIM:619471 bardet-biedl syndrome 20 True False False +OMIM:619472 viss syndrome True False False OMIM:619473 oculopharyngodistal myopathy 3 True False False +OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities True False False OMIM:619476 joubert syndrome 38 True False False OMIM:619477 facioscapulohumeral muscular dystrophy 3, digenic True False False OMIM:619478 facioscapulohumeral muscular dystrophy 4, digenic True False False OMIM:619479 short-rib thoracic dysplasia 21 without polydactyly True False False +OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum True False False +OMIM:619481 bile acid malabsorption, primary, 2 True False False OMIM:619482 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction True False False OMIM:619483 central hypoventilation syndrome, congenital, 3 True False False OMIM:619484 cholestasis, progressive familial intrahepatic, 6 True False False OMIM:619486 aicardi-goutieres syndrome 8 True False False OMIM:619487 aicardi-goutieres syndrome 9 True False False +OMIM:619488 degcags syndrome True False False +OMIM:619489 short stature, dauber-argente iia True False False +OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to True False False OMIM:619492 cardiomyopathy, dilated, 2e True False False OMIM:619493 congenital disorder of glycosylation, iia 2v True False False OMIM:619500 deafness, autosomal dominant 81 True False False +OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies True False False +OMIM:619504 chopra-amiel-gordon syndrome True False False OMIM:619510 immunodeficiency 85 and autoimmunity True False False +OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities True False False OMIM:619515 spermatogenic failure 56 True False False +OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities True False False +OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome True False False OMIM:619519 charcot-marie-tooth disease, axonal, iia 2ff True False False OMIM:619521 epilepsy, idiopathic generalized, susceptibility to, 18 True False False +OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities True False False OMIM:619523 anemia, sideroblastic, 5 True False False OMIM:619525 congenital disorder of glycosylation, iia iiw True False False OMIM:619527 pontocerebellar hypoplasia, iia 16 True False False OMIM:619528 spermatogenic failure 57 True False False OMIM:619531 cone-rod dystrophy 22 True False False +OMIM:619534 biliary, renal, neurologic, and skeletal syndrome True False False +OMIM:619539 neuroocular syndrome True False False OMIM:619542 king-denborough syndrome True False False +OMIM:619543 boudin-mortier syndrome True False False +OMIM:619548 usmani-riazuddin syndrome, autosomal recessive True False False OMIM:619549 immunodeficiency 86 True False False OMIM:619553 deafness, autosomal recessive 118, with cochlear aplasia True False False OMIM:619555 epidermolysis bullosa simplex 2a, generalized severe True False False +OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies True False False +OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies True False False OMIM:619561 developmental and epileptic encephalopathy 97 True False False OMIM:619562 joubert syndrome 39 True False False OMIM:619565 dystonia 31 True False False OMIM:619566 muscular dystrophy, limb-girdle, autosomal recessive 27 True False False OMIM:619573 immunodeficiency 87 and autoimmunity True False False OMIM:619574 charcot-marie-tooth disease, axonal, iia 2hh True False False +OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities True False False +OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects True False False +OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures True False False OMIM:619582 joubert syndrome 40 True False False OMIM:619585 spermatogenic failure 58 True False False OMIM:619588 epidermolysis bullosa simplex 2b, generalized intermediate True False False OMIM:619593 cataract 49 True False False OMIM:619594 epidermolysis bullosa simplex 2c, localized True False False +OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities True False False OMIM:619599 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive True False False +OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies True False False OMIM:619603 galloway-mowat syndrome 9 True False False OMIM:619605 developmental and epileptic encephalopathy 98 True False False OMIM:619606 developmental and epileptic encephalopathy 99 True False False @@ -26344,18 +26239,25 @@ OMIM:619609 galloway-mowat syndrome 10 True False False OMIM:619611 interstitial lung disease 1 True False False OMIM:619614 retinitis pigmentosa 92 True False False OMIM:619615 deafness, autosomal recessive 119 True False False +OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity True False False OMIM:619621 spastic paraplegia 84, autosomal recessive True False False OMIM:619630 immunodeficiency 88 True False False OMIM:619632 immunodeficiency 89 and autoimmunity True False False OMIM:619636 acromesomelic dysplasia 4 True False False OMIM:619637 dystonia 32 True False False OMIM:619638 spondylometaphyseal dysplasia, pagnamenta iia True False False +OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay True False False +OMIM:619641 hengel-maroofian-schols syndrome True False False OMIM:619643 oocyte maturation defect 11 True False False OMIM:619644 immunodeficiency 91 and hyperinflammation True False False OMIM:619645 spermatogenic failure 59 True False False OMIM:619646 spermatogenic failure 60 True False False OMIM:619647 dyskinesia with orofacial involvement, autosomal recessive True False False +OMIM:619648 zaki syndrome True False False +OMIM:619649 chromosome 16q12 duplication syndrome True False False +OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia True False False OMIM:619652 immunodeficiency 92 True False False +OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus True False False OMIM:619656 loeys-dietz syndrome 6 True False False OMIM:619658 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss True False False OMIM:619661 leukoencephalopathy, hereditary diffuse, with spheroids 2 True False False @@ -26363,25 +26265,36 @@ OMIM:619662 cholestasis, progressive familial intrahepatic, 8 True False False OMIM:619665 ovarian dysgenesis 9 True False False OMIM:619672 spermatogenic failure 61 True False False OMIM:619673 spermatogenic failure 62 True False False +OMIM:619680 marbach-schaaf neurodevelopmental syndrome True False False +OMIM:619681 dystonia, early-onset, and/or spastic paraplegia True False False +OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis True False False OMIM:619686 spastic paraplegia 85, autosomal recessive True False False OMIM:619687 dystonia 33 True False False OMIM:619688 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy True False False OMIM:619689 spermatogenic failure 63 True False False +OMIM:619690 brunet-wagner neurodevelopmental syndrome True False False OMIM:619691 trichothiodystrophy 8, nonphotosensitive True False False OMIM:619692 trichothiodystrophy 9, nonphotosensitive True False False OMIM:619693 agammaglobulinemia 9, autosomal recessive True False False +OMIM:619694 developmental delay with variable neurologic and brain abnormalities True False False +OMIM:619695 rauch-steindl syndrome True False False OMIM:619696 spermatogenic failure 64 True False False OMIM:619697 oocyte maturation defect 12 True False False OMIM:619698 mucopolysaccharidosis, iia 10 True False False +OMIM:619699 ferguson-bonni neurodevelopmental syndrome True False False +OMIM:619701 yoon-bellen neurodevelopmental syndrome True False False OMIM:619705 immunodeficiency 93 and hypertrophic cardiomyopathy True False False OMIM:619707 agammaglobulinemia 10, autosomal dominant True False False OMIM:619708 gastrointestinal defects and immunodeficiency syndrome 2 True False False OMIM:619712 spermatogenic failure 65 True False False +OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant True False False OMIM:619717 intellectual developmental disorder, autosomal recessive 73 True False False OMIM:619718 hypogonadotropic hypogonadism 26 with or without anosmia True False False +OMIM:619719 intellectual disability and myopathy syndrome True False False OMIM:619720 bryant-li-bhoj neurodevelopmental syndrome 1 True False False OMIM:619721 bryant-li-bhoj neurodevelopmental syndrome 2 True False False OMIM:619724 dystonia 34, myoclonic True False False +OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities True False False OMIM:619733 inclusion body myopathy and brain white matter abnormalities True False False OMIM:619735 spastic paraplegia 86, autosomal recessive True False False OMIM:619736 teebi hypertelorism syndrome 2 True False False @@ -26397,6 +26310,8 @@ OMIM:619752 hyper-ige recurrent infection syndrome 4a, autosomal dominant True F OMIM:619755 hypogonadotropic hypogonadism 27 without anosmia True False False OMIM:619758 tessadori-bicknell-van haaften neurodevelopmental syndrome 1 True False False OMIM:619759 tessadori-bicknell-van haaften neurodevelopmental syndrome 2 True False False +OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism True False False +OMIM:619762 kury-isidor syndrome True False False OMIM:619764 charcot-marie-tooth disease, demyelinating, iia 1h True False False OMIM:619767 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 True False False OMIM:619773 immunodeficiency 95 True False False @@ -26414,6 +26329,7 @@ OMIM:619789 anemia, congenital dyserythropoietic, iia iiib, autosomal recessive OMIM:619790 oculopharyngodistal myopathy 4 True False False OMIM:619793 restrictive dermopathy 2 True False False OMIM:619795 osteogenesis imperfecta, iia 22 True False False +OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies True False False OMIM:619799 spermatogenic failure 66 True False False OMIM:619802 immunodeficiency 97 with autoinflammation True False False OMIM:619803 spermatogenic failure 67 True False False @@ -26425,34 +26341,53 @@ OMIM:619810 deafness, autosomal dominant 84 True False False OMIM:619813 neutropenia, severe congenital, 9, autosomal dominant True False False OMIM:619814 developmental and epileptic encephalopathy 101 True False False OMIM:619816 epidermolysis bullosa, junctional 5a, intermediate True False False +OMIM:619824 agammaglobulinemia 8b, autosomal recessive True False False OMIM:619825 aortic aneurysm, familial thoracic 12 True False False OMIM:619826 spermatogenic failure 69 True False False OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly True False False OMIM:619828 spermatogenic failure 70 True False False OMIM:619831 spermatogenic failure 71 True False False +OMIM:619832 auditory neuropathy, autosomal dominant 3 True False False +OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities True False False OMIM:619834 ovarian dysgenesis 10 True False False +OMIM:619835 3-methylglutaconic aciduria, iia 7a True False False OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant True False False +OMIM:619841 chilton-okur-chung neurodevelopmental syndrome True False False +OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy True False False OMIM:619845 retinitis pigmentosa 93 True False False OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias True False False +OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly True False False OMIM:619849 cholestasis, progressive familial intrahepatic, 9 True False False OMIM:619851 leukodystrophy, hypomyelinating, 24 True False False +OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities True False False OMIM:619855 thyroid hormone metabolism, abnormal, 2 True False False OMIM:619858 autoinflammatory-pancytopenia syndrome True False False +OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency True False False OMIM:619862 spinocerebellar ataxia, autosomal recessive 32 True False False OMIM:619867 spermatogenic failure 72 True False False OMIM:619868 cholestasis, progressive familial intrahepatic, 10 True False False +OMIM:619869 neurocardiofaciodigital syndrome True False False OMIM:619872 immunodeficiency 101 (varicella zoster virus-specific) True False False +OMIM:619873 parenti-mignot neurodevelopmental syndrome True False False OMIM:619874 cholestasis, progressive familial intrahepatic, 11 True False False +OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures True False False +OMIM:619877 dentici-novelli neurodevelopmental syndrome True False False OMIM:619878 spermatogenic failure 73 True False False OMIM:619879 meckel syndrome 14 True False False +OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies True False False OMIM:619881 developmental and epileptic encephalopathy 102 True False False +OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay True False False OMIM:619887 renal hypodysplasia/aplasia 4 True False False OMIM:619895 holoprosencephaly 14 True False False OMIM:619897 cardiomyopathy, dilated, 2g True False False +OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive True False False +OMIM:619908 neurodevelopmental disorder with language delay and seizures True False False OMIM:619909 pontocerebellar hypoplasia, iia 17 True False False OMIM:619910 intellectual developmental disorder, autosomal dominant 66 True False False +OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism True False False OMIM:619913 developmental and epileptic encephalopathy 103 True False False OMIM:619921 dystonia 35, childhood-onset True False False +OMIM:619922 neurodevelopmental disorder with dystonia and seizures True False False OMIM:619924 immunodeficiency 105 True False False OMIM:619927 intellectual developmental disorder, autosomal dominant 67 True False False OMIM:619931 intellectual developmental disorder, autosomal recessive 76 True False False @@ -26465,41 +26400,83 @@ OMIM:619947 waardenburg syndrome, iia 2f True False False OMIM:619949 spermatogenic failure 75 True False False OMIM:619950 tessadori-bicknell-van haaften neurodevelopmental syndrome 3 True False False OMIM:619951 tessadori-bicknell-van haaften neurodevelopmental syndrome 4 True False False +OMIM:619955 dworschak-punetha neurodevelopmental syndrome True False False +OMIM:619957 attention deficit-hyperactivity disorder 8 True False False +OMIM:619959 acces syndrome True False False +OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures True False False OMIM:619966 spastic paraplegia 87, autosomal recessive True False False OMIM:619970 developmental and epileptic encephalopathy 104 True False False +OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy True False False +OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy True False False +OMIM:619975 tumor predisposition syndrome 2 True False False OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism True False False OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection True False False OMIM:619988 intellectual developmental disorder, autosomal recessive 77 True False False +OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies True False False +OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies True False False +OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities True False False +OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome True False False +OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects True False False +OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive True False False OMIM:620010 cholestasis, progressive familial intrahepatic, 12 True False False +OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 True False False +OMIM:620012 developmental delay, hypotonia, and impaired language True False False OMIM:620014 lymphatic malformation 12 True False False OMIM:620015 advance sleep phase syndrome, familial, 4 True False False OMIM:620019 arthrogryposis, distal, iia 11 True False False OMIM:620022 stickler syndrome, iia 6 True False False +OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures True False False +OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities True False False +OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay True False False OMIM:620028 developmental and epileptic encephalopathy 106 True False False +OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures True False False OMIM:620032 ciliary dyskinesia, primary, 48, without situs inversus True False False OMIM:620033 developmental and epileptic encephalopathy 107 True False False +OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language True False False OMIM:620040 dyskeratosis congenita, digenic True False False +OMIM:620044 bone marrow failure and diabetes mellitus syndrome True False False OMIM:620047 microcephaly 29, primary, autosomal recessive True False False OMIM:620049 nephrotic syndrome, iia 26 True False False OMIM:620056 polycystic kidney disease 7 True False False OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 True False False +OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders True False False +OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment True False False OMIM:620068 charcot-marie-tooth disease, axonal, iia 2ii True False False +OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties True False False +OMIM:620071 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss True False False OMIM:620072 diamond-blackfan anemia 21 True False False +OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities True False False +OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly True False False +OMIM:620080 neuronopathy, distal hereditary motor, iia 10 True False False +OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects True False False OMIM:620084 spermatogenic failure 76 True False False +OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features True False False +OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction True False False +OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia True False False +OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies True False False OMIM:620102 retinitis pigmentosa 95 True False False OMIM:620103 spermatogenic failure 77 True False False OMIM:620104 amelogenesis imperfecta, iia 1k True False False OMIM:620106 spastic paraplegia 88, autosomal dominant True False False +OMIM:620107 orofaciodigital syndrome 19 True False False OMIM:620111 charcot-marie-tooth disease, demyelinating, iia 1j True False False +OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities True False False +OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures True False False OMIM:620115 developmental and epileptic encephalopathy 108 True False False +OMIM:620121 iron overload, susceptibility to True False False +OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive True False False +OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive True False False OMIM:620133 dyskeratosis congenita, autosomal recessive 8 True False False OMIM:620135 mitochondrial complex 1 deficiency, nuclear iia 39 True False False OMIM:620137 mitochondrial complex 3 deficiency, nuclear iia 11 True False False OMIM:620139 combined oxidative phosphorylation deficiency 56 True False False +OMIM:620141 developmental delay, language impairment, and ocular abnormalities True False False OMIM:620145 developmental and epileptic encephalopathy 109 True False False OMIM:620149 developmental and epileptic encephalopathy 110 True False False OMIM:620152 hypomagnesemia 7, renal, with or without dilated cardiomyopathy True False False OMIM:620153 mosaic variegated aneuploidy syndrome 4 True False False +OMIM:620154 oocyte maturation defect 13 True False False +OMIM:620155 rabin-pappas syndrome True False False OMIM:620156 cortical dysplasia, complex, with other brain malformations 11 True False False OMIM:620157 intellectual developmental disorder, autosomal dominant 70 True False False OMIM:620158 spinocerebellar ataxia 50 True False False @@ -26509,7 +26486,11 @@ OMIM:620173 tooth agenesis, selective, 10 True False False OMIM:620174 spinocerebellar ataxia 27b, late-onset True False False OMIM:620177 hypotrichosis 15 True False False OMIM:620183 microcephaly 30, primary, autosomal recessive True False False +OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome True False False OMIM:620189 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition True False False +OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities True False False +OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies True False False +OMIM:620195 obesity and hypopigmentation True False False OMIM:620196 spermatogenic failure 79 True False False OMIM:620197 ciliary dyskinesia, primary, 49, without situs inversus True False False OMIM:620198 thyroid hormone metabolism, abnormal, 3 True False False @@ -26517,20 +26498,39 @@ OMIM:620200 congenital disorder of glycosylation, iia iiy True False False OMIM:620201 congenital disorder of glycosylation, iia iiz True False False OMIM:620203 cardiomyopathy, dilated, 2h True False False OMIM:620208 spinocerebellar ataxia, autosomal recessive 33 True False False +OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia True False False OMIM:620211 hyperinsulinemic hypoglycemia, familial, 8 True False False OMIM:620221 spastic paraplegia 79a, autosomal dominant, with ataxia True False False OMIM:620222 spermatogenic failure 80 True False False +OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures True False False OMIM:620227 deafness, autosomal dominant 85 True False False OMIM:620228 retinitis pigmentosa 96 True False False +OMIM:620231 short qt syndrome 7 True False False +OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma True False False +OMIM:620235 rhabdomyolysis, susceptibility to, 1 True False False OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies True False False OMIM:620237 intellectual developmental disorder, autosomal recessive 78 True False False OMIM:620238 deafness, autosomal recessive 120 True False False +OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities True False False OMIM:620241 hydrocephalus, congenital, 5, susceptibility to True False False +OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities True False False OMIM:620243 leukodystrophy, hypomyelinating, 25 True False False OMIM:620244 lymphatic malformation 13 True False False OMIM:620245 episodic kinesigenic dyskinesia 3 True False False OMIM:620247 cardiomyopathy, dilated, 1oo True False False +OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum True False False OMIM:620253 cataract 50 with or without glaucoma True False False +OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities True False False +OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 True False False +OMIM:620276 oocyte maturation defect 14 True False False +OMIM:620277 spermatogenic failure 81 True False False +OMIM:620280 deafness, autosomal dominant 86 True False False +OMIM:620281 deafness, autosomal dominant 87 True False False +OMIM:620283 deafness, autosomal dominant 88 True False False +OMIM:620284 deafness, autosomal dominant 89 True False False +OMIM:620285 amyotrophic lateral sclerosis 27, juvenile True False False +OMIM:620286 myopathy, sarcoplasmic body True False False +OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures True False False OMIMPS:100070 True False False OMIMPS:100300 True False False OMIMPS:101800 True False False diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 0f618943..5dce33bb 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,38 +1,14 @@ subject_id subject_label -OMIM:619835 3-methylglutaconic aciduria, iia 7a -OMIM:619959 acces syndrome -OMIM:619824 agammaglobulinemia 8b, autosomal recessive -OMIM:619268 alzahrani-kuwahara syndrome -OMIM:620285 amyotrophic lateral sclerosis 27, juvenile -OMIM:619352 ataxia, intention tremor, and hypotonia syndrome, childhood-onset OMIM:620184 atelis syndrome 1 OMIM:620185 atelis syndrome 2 OMIM:606215 atrioventricular septal defect -OMIM:619957 attention deficit-hyperactivity disorder 8 -OMIM:619832 auditory neuropathy, autosomal dominant 3 OMIM:620076 bent bone dysplasia syndrome 2 -OMIM:619481 bile acid malabsorption, primary, 2 -OMIM:619534 biliary, renal, neurologic, and skeletal syndrome -OMIM:619293 blepharophimosis-impaired intellectual development syndrome OMIM:620207 blood group, er -OMIM:620044 bone marrow failure and diabetes mellitus syndrome -OMIM:619543 boudin-mortier syndrome OMIM:619980 braddock-carey syndrome 1 OMIM:619981 braddock-carey syndrome 2 -OMIM:620186 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome -OMIM:619690 brunet-wagner neurodevelopmental syndrome -OMIM:619314 buratti-harel syndrome OMIM:620067 cardiac valvular dysplasia 2 -OMIM:619576 cerebellar ataxia, brain abnormalities, and cardiac conduction defects -OMIM:619761 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619538 cerebral cavernous malformations 4 -OMIM:619841 chilton-okur-chung neurodevelopmental syndrome -OMIM:619504 chopra-amiel-gordon syndrome -OMIM:619649 chromosome 16q12 duplication syndrome -OMIM:619343 chromosome 1p36 deletion syndrome, proximal -OMIM:301069 chromosome xq13 duplication syndrome OMIM:620099 cleidocranial dysplasia 2 -OMIM:619714 congenital disorder of glycosylation, iia iw, autosomal dominant OMIM:619657 congenital heart defects, multiple types, 8, with or without heterotaxy OMIM:620294 congenital heart defects, multiple types, 9 OMIM:620249 congenital myopathy 10b, mild variant @@ -44,43 +20,18 @@ OMIM:620278 congenital myopathy 2c, severe infantile, autosomal dominant OMIM:619871 corneal dystrophy, punctiform and polychromatic pre-descemet OMIM:616994 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 OMIM:619727 craniotubular dysplasia, ikegawa iia -OMIM:620280 deafness, autosomal dominant 86 -OMIM:620281 deafness, autosomal dominant 87 -OMIM:620283 deafness, autosomal dominant 88 -OMIM:620284 deafness, autosomal dominant 89 -OMIM:619354 deafness, cataract, impaired intellectual development, and polyneuropathy -OMIM:619488 degcags syndrome OMIM:619613 delayed puberty, self-limited -OMIM:619877 dentici-novelli neurodevelopmental syndrome -OMIM:620240 developmental delay with hypotonia, myopathy, and brain abnormalities -OMIM:619575 developmental delay with or without intellectual impairment or behavioral abnormalities -OMIM:620098 developmental delay with variable intellectual disability and dysmorphic facies -OMIM:619694 developmental delay with variable neurologic and brain abnormalities -OMIM:620065 developmental delay, behavioral abnormalities, and neuropsychiatric disorders -OMIM:620012 developmental delay, hypotonia, and impaired language -OMIM:619595 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities -OMIM:619475 developmental delay, impaired speech, and behavioral abnormalities -OMIM:619964 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures -OMIM:620141 developmental delay, language impairment, and ocular abnormalities OMIM:620025 diaphragmatic hernia 4, with cardiovascular defects -OMIM:619955 dworschak-punetha neurodevelopmental syndrome OMIM:619345 dysostosis multiplex, ain-naz iia -OMIM:619681 dystonia, early-onset, and/or spastic paraplegia OMIM:619817 epidermolysis bullosa, junctional 6, with pyloric atresia OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features OMIM:620058 familial apolipoprotein gene cluster deletion syndrome OMIM:620116 fatty liver disease, protection from -OMIM:619376 faundes-banka syndrome -OMIM:619699 ferguson-bonni neurodevelopmental syndrome -OMIM:619602 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM:619329 fibromuscular dysplasia, multifocal OMIM:619985 glycosylphosphatidylinositol biosynthesis defect 25 -OMIM:619321 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM:619462 hemolytic disease of fetus and newborn, rh-induced -OMIM:619641 hengel-maroofian-schols syndrome OMIM:619902 hepatorenocardiac degenerative fibrosis OMIM:619702 heterotaxy, visceral, 12, autosomal -OMIM:619311 hiatt-neu-cooper neurodevelopmental syndrome OMIM:147060 hyper-ige recurrent infection syndrome 1, autosomal dominant OMIM:620085 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM:619324 hypertriglyceridemia 2 @@ -91,136 +42,25 @@ OMIM:620148 ichthyosis, annular epidermolytic, 2 OMIM:620282 immunodeficiency 109 with lymphoproliferation OMIM:620199 inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM:620021 intellectual developmental disorder with autism and dysmorphic facies -OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies -OMIM:619911 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism -OMIM:620007 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects -OMIM:620086 intellectual developmental disorder with ocular anomalies and distinctive facial features -OMIM:619844 intellectual developmental disorder with or without peripheral neuropathy -OMIM:619719 intellectual disability and myopathy syndrome OMIM:620045 intestinal dysmotility syndrome -OMIM:620121 iron overload, susceptibility to -OMIM:620232 joint contractures, osteochondromas, and b-cell lymphoma -OMIM:620009 keratoderma-ichthyosis-deafness syndrome, autosomal recessive -OMIM:619762 kury-isidor syndrome OMIM:620192 lacrimoauriculodentodigital syndrome 2 OMIM:620193 lacrimoauriculodentodigital syndrome 3 OMIM:619864 leukodystrophy, childhood-onset, remitting OMIM:620269 leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM:619991 liver disease, severe congenital -OMIM:619460 luo-schoch-yamamoto syndrome OMIM:619769 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM:619977 macular dystrophy, retinal, 4 OMIM:619290 mahvash disease -OMIM:619680 marbach-schaaf neurodevelopmental syndrome -OMIM:619355 mitochondrial complex 4 deficiency, nuclear iia 22 -OMIM:620275 mitochondrial complex 4 deficiency, nuclear iia 23 -OMIM:619518 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM:620166 muscular dystrophy, congenital, with or without seizures OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis -OMIM:619424 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy -OMIM:620286 myopathy, sarcoplasmic body -OMIM:619468 nephronophthisis-like nephropathy 2 -OMIM:619869 neurocardiofaciodigital syndrome -OMIM:620089 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction -OMIM:619847 neurodegeneration, childhood-onset, with progressive microcephaly -OMIM:620270 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities -OMIM:619797 neurodevelopmental disorder with central hypotonia and dysmorphic facies -OMIM:619333 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction -OMIM:620083 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects -OMIM:619306 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia -OMIM:620210 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia -OMIM:620073 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities -OMIM:619480 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum -OMIM:619922 neurodevelopmental disorder with dystonia and seizures -OMIM:619971 neurodevelopmental disorder with epilepsy and brain atrophy -OMIM:620094 neurodevelopmental disorder with eye movement abnormalities and ataxia -OMIM:620075 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly -OMIM:301094 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked -OMIM:620113 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities -OMIM:619616 neurodevelopmental disorder with hearing loss and spasticity -OMIM:619651 neurodevelopmental disorder with hyperkinetic movements and dyskinesia -OMIM:619512 neurodevelopmental disorder with hypotonia and brain abnormalities -OMIM:619503 neurodevelopmental disorder with hypotonia and dysmorphic facies -OMIM:619639 neurodevelopmental disorder with hypotonia and gross motor and speech delay -OMIM:620224 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures -OMIM:620191 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities -OMIM:619383 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities -OMIM:619854 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities -OMIM:620029 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures -OMIM:619580 neurodevelopmental disorder with impaired language and ataxia and with or without seizures -OMIM:619373 neurodevelopmental disorder with infantile epileptic spasms -OMIM:619995 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies -OMIM:620292 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures -OMIM:619908 neurodevelopmental disorder with language delay and seizures -OMIM:620066 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment -OMIM:620038 neurodevelopmental disorder with microcephaly, hypotonia, and absent language -OMIM:619876 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures -OMIM:620023 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures -OMIM:619685 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis -OMIM:620027 neurodevelopmental disorder with microcephaly, short stature, and speech delay -OMIM:619470 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities -OMIM:619833 neurodevelopmental disorder with neuromuscular and skeletal abnormalities -OMIM:619725 neurodevelopmental disorder with or without variable movement or behavioral abnormalities -OMIM:620242 neurodevelopmental disorder with poor growth and behavioral abnormalities -OMIM:619880 neurodevelopmental disorder with poor growth and skeletal anomalies -OMIM:620194 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies -OMIM:620071 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss -OMIM:619517 neurodevelopmental disorder with seizures and brain abnormalities -OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth -OMIM:620024 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities -OMIM:620250 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum -OMIM:619972 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy -OMIM:620070 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties -OMIM:619286 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia -OMIM:620001 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities -OMIM:619989 neurodevelopmental disorder with speech delay and variable ocular anomalies -OMIM:620114 neurodevelopmental disorder with speech impairment and with or without seizures -OMIM:619653 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus -OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities -OMIM:620080 neuronopathy, distal hereditary motor, iia 10 -OMIM:619539 neuroocular syndrome -OMIM:620195 obesity and hypopigmentation -OMIM:619356 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome -OMIM:620154 oocyte maturation defect 13 -OMIM:620276 oocyte maturation defect 14 -OMIM:620107 orofaciodigital syndrome 19 -OMIM:619377 osteootohepatoenteric syndrome -OMIM:619884 osteoporosis, childhood- or juvenile-onset, with developmental delay -OMIM:619873 parenti-mignot neurodevelopmental syndrome -OMIM:619491 parkinson disease 24, autosomal dominant, susceptibility to -OMIM:619903 peripheral motor neuropathy, childhood-onset, biotin-responsive -OMIM:619859 phosphoribosylaminoimidazole carboxylase deficiency -OMIM:620005 primordial dwarfism-immunodeficiency-lipodystrophy syndrome -OMIM:620125 pseudohypoaldosteronism, iia ib2, autosomal recessive -OMIM:620126 pseudohypoaldosteronism, iia ib3, autosomal recessive +OMIM:160150 myopathy, centronuclear, 1 OMIM:606963 pulmonary disease, chronic obstructive -OMIM:620155 rabin-pappas syndrome -OMIM:619312 radio-tartaglia syndrome -OMIM:619695 rauch-steindl syndrome OMIM:620233 respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM:619446 retinal dystrophy and microvillus inclusion disease -OMIM:620235 rhabdomyolysis, susceptibility to, 1 OMIM:619598 rhizomelic dysplasia, ain-naz iia OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to -OMIM:620231 short qt syndrome 7 -OMIM:619489 short stature, dauber-argente iia -OMIM:619557 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies -OMIM:619464 sick sinus syndrome 4 -OMIM:620277 spermatogenic failure 81 -OMIM:301099 spermatogenic failure, x-linked, 5 -OMIM:301101 spermatogenic failure, x-linked, 6 -OMIM:620011 spinal muscular atrophy, distal, autosomal recessive, 6 -OMIM:301080 systemic lupus erythematosus 17 OMIM:301071 thrombophilia, x-linked, due to factor 8 defect -OMIM:619975 tumor predisposition syndrome 2 -OMIM:619467 usmani-riazuddin syndrome, autosomal dominant -OMIM:619548 usmani-riazuddin syndrome, autosomal recessive OMIM:619501 ventriculomegaly and arthrogryposis OMIM:619400 visceral leiomyopathy, african degenerative -OMIM:619350 visceral myopathy 2 -OMIM:619472 viss syndrome -OMIM:619426 white-kernohan syndrome -OMIM:619701 yoon-bellen neurodevelopmental syndrome -OMIM:619648 zaki syndrome OMIMPS:117000 OMIMPS:267750 diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index 1b4fa8b5..c513ec5d 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -2,7 +2,6 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % MONDO:0850061 nipah virus encephalitis DOID:0050192 MONDO:equivalentTo Nipah virus encephalitis MONDO:0005108 MONDO:0850085 autosomal dominant dyskeratosis congenita 4 DOID:0070020 MONDO:equivalentTo autosomal dominant dyskeratosis congenita 4 MONDO:0015780|MONDO:0000426 -MONDO:0850091 hereditary lymphedema i DOID:0070212 MONDO:equivalentTo hereditary lymphedema I MONDO:0019313 MONDO:0850094 drug-induced hearing loss DOID:0070310 MONDO:equivalentTo drug-induced hearing loss MONDO:0019497 MONDO:0850098 oligoasthenoteratozoospermia DOID:0070311 MONDO:equivalentTo oligoasthenoteratozoospermia MONDO:0005372 MONDO:0850111 mitochondrial dna depletion syndrome 8b DOID:0070331 MONDO:equivalentTo mitochondrial DNA depletion syndrome 8b MONDO:0018158|MONDO:0006025 @@ -12,10 +11,7 @@ MONDO:0850123 autonomic nervous system benign neoplasm DOID:0080321 MONDO:equiva MONDO:0850126 testicular sex cord-stromal benign neoplasm DOID:0080371 MONDO:equivalentTo testicular sex cord-stromal benign neoplasm A sex cord-stromal benign neoplasm that arises from the testis. MONDO:0024988 MONDO:0850127 epithelioid inflammatory myofibroblastic sarcoma DOID:0080372 MONDO:equivalentTo epithelioid inflammatory myofibroblastic sarcoma MONDO:0015798 MONDO:0850133 orofacial cleft 14 DOID:0080407 MONDO:equivalentTo orofacial cleft 14 MONDO:0006025|MONDO:0000358 -MONDO:0850136 leukocyte adhesion deficiency 2 DOID:0080492 MONDO:equivalentTo leukocyte adhesion deficiency 2 MONDO:0017570 MONDO:0850138 epidermolysis bullosa simplex generalized type DOID:0080511 MONDO:equivalentTo epidermolysis bullosa simplex generalized type MONDO:0017610|MONDO:0000426 -MONDO:0850139 non-alcoholic fatty liver DOID:0080546 MONDO:equivalentTo non-alcoholic fatty liver MONDO:0013209 -MONDO:0850140 congenital disorder of glycosylation iy DOID:0080574 MONDO:equivalentTo congenital disorder of glycosylation Iy MONDO:0020605|MONDO:0005500 MONDO:0850141 polygenic disease DOID:0080577 MONDO:equivalentTo polygenic disease MONDO:0003847 MONDO:0850142 hyper ige recurrent infection syndrome 2 DOID:0080594 MONDO:equivalentTo hyper IgE recurrent infection syndrome 2 MONDO:0018037|MONDO:0006025 MONDO:0850144 germ cell benign neoplasm DOID:0080601 MONDO:equivalentTo germ cell benign neoplasm A benign neoplasm that derives_from germ cells. MONDO:0005165 @@ -28,20 +24,13 @@ MONDO:0850168 warfarin resistance DOID:0080665 MONDO:equivalentTo warfarin resis MONDO:0850169 warfarin sensitivity DOID:0080666 MONDO:equivalentTo warfarin sensitivity An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. MONDO:0019052|MONDO:0000426 MONDO:0850170 spinal muscular atrophy type 0 DOID:0080667 MONDO:equivalentTo spinal muscular atrophy type 0 A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. MONDO:0009669 MONDO:0850171 posterior polymorphous corneal dystrophy 4 DOID:0080669 MONDO:equivalentTo posterior polymorphous corneal dystrophy 4 A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. MONDO:0020364|MONDO:0000426 -MONDO:0850172 meesmann corneal dystrophy 1 DOID:0080670 MONDO:equivalentTo Meesmann corneal dystrophy 1 A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. MONDO:0007379|MONDO:0000426 -MONDO:0850173 meesmann corneal dystrophy 2 DOID:0080671 MONDO:equivalentTo Meesmann corneal dystrophy 2 A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. MONDO:0007379|MONDO:0000426 -MONDO:0850177 stickler syndrome 2 DOID:0080675 MONDO:equivalentTo Stickler syndrome 2 A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. MONDO:0019354|MONDO:0000426 -MONDO:0850178 stickler syndrome 1 DOID:0080676 MONDO:equivalentTo Stickler syndrome 1 A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. MONDO:0019354|MONDO:0000426 MONDO:0850180 mucolipidosis iii gamma DOID:0080678 MONDO:equivalentTo mucolipidosis III gamma A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. MONDO:0019248|MONDO:0006025 MONDO:0850186 aortic dissection DOID:0080685 MONDO:equivalentTo aortic dissection An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. MONDO:0005561 MONDO:0850187 tubular aggregate myopathy 2 DOID:0080686 MONDO:equivalentTo tubular aggregate myopathy 2 A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. MONDO:0005336|MONDO:0000426 MONDO:0850188 reducing body myopathy 1b DOID:0080687 MONDO:equivalentTo reducing body myopathy 1B A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. MONDO:0005336|MONDO:0000425 -MONDO:0850193 opitz gbbb syndrome DOID:0080697 MONDO:equivalentTo Opitz GBBB syndrome A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. MONDO:0020605|MONDO:0002254 MONDO:0850196 medulloblastoma wnt activated DOID:0080702 MONDO:equivalentTo medulloblastoma WNT activated A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. MONDO:0007959 MONDO:0850197 medulloblastoma shh activated DOID:0080703 MONDO:equivalentTo medulloblastoma SHH activated A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. MONDO:0007959 MONDO:0850198 medulloblastoma non-wnt/non-shh DOID:0080706 MONDO:equivalentTo medulloblastoma non-WNT/non-SHH A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. MONDO:0007959 -MONDO:0850202 infantile liver failure syndrome DOID:0080716 MONDO:equivalentTo infantile liver failure syndrome A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. MONDO:0005154|MONDO:0002254 -MONDO:0850204 proximal myopathy and ophthalmoplegia DOID:0080719 MONDO:equivalentTo proximal myopathy and ophthalmoplegia A myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa on chromosome 17p13. MONDO:0005336 MONDO:0850206 calvarial doughnut lesions with bone fragility DOID:0080721 MONDO:equivalentTo calvarial doughnut lesions with bone fragility An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. MONDO:0005516 MONDO:0850208 basan syndrome DOID:0080725 MONDO:equivalentTo BASAN syndrome An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. MONDO:0019287 MONDO:0850209 ehlers-danlos syndrome classic type 2 DOID:0080726 MONDO:equivalentTo Ehlers-Danlos syndrome classic type 2 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. MONDO:0020066|MONDO:0000426 @@ -61,13 +50,9 @@ MONDO:0850222 ehlers-danlos syndrome spondylodysplastic type 3 DOID:0080739 MOND MONDO:0850225 autoimmune cholangitis DOID:0080742 MONDO:equivalentTo autoimmune cholangitis An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. MONDO:0016264 MONDO:0850230 chronic urticaria DOID:0080747 MONDO:equivalentTo chronic urticaria An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. MONDO:0005492 MONDO:0850231 erythema nodosum DOID:0080750 MONDO:equivalentTo erythema nodosum A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. MONDO:0006591 -MONDO:0850238 autosomal recessive limb-girdle muscular dystrophy type 2z DOID:0080762 MONDO:equivalentTo autosomal recessive limb-girdle muscular dystrophy type 2Z An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. MONDO:0015152 -MONDO:0850239 hereditary diffuse gastric cancer DOID:0080764 MONDO:equivalentTo hereditary diffuse gastric cancer A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. MONDO:0007648|MONDO:0000426 MONDO:0850240 autosomal recessive intellectual developmental disorder 72 DOID:0080765 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 72 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. MONDO:0019502 MONDO:0850244 early-onset vitamin b6-dependent epilepsy DOID:0080769 MONDO:equivalentTo early-onset vitamin B6-dependent epilepsy An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. MONDO:0005027|MONDO:0006025 -MONDO:0850245 autosomal dominant beta thalassemia DOID:0080770 MONDO:equivalentTo autosomal dominant beta thalassemia A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. MONDO:0019402|MONDO:0000426 MONDO:0850248 delta beta-thalassemia DOID:0080773 MONDO:equivalentTo delta beta-thalassemia A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. MONDO:0019402|MONDO:0000426 -MONDO:0850253 transient infantile liver failure DOID:0080778 MONDO:equivalentTo transient infantile liver failure A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. MONDO:0005154|MONDO:0006025 MONDO:0850257 mucinous pancreas adenocarcinoma DOID:0080782 MONDO:equivalentTo mucinous pancreas adenocarcinoma A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. MONDO:0006047|MONDO:0004957 MONDO:0850261 proximal symphalangism 1 DOID:0080787 MONDO:equivalentTo proximal symphalangism 1 A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. MONDO:0008511 MONDO:0850262 proximal symphalangism 2 DOID:0080788 MONDO:equivalentTo proximal symphalangism 2 A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. MONDO:0008511 @@ -75,7 +60,6 @@ MONDO:0850267 childhood acute megakaryoblastic leukemia DOID:0080794 MONDO:equiv MONDO:0850269 core binding factor acute myeloid leukemia DOID:0080796 MONDO:equivalentTo core binding factor acute myeloid leukemia An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. MONDO:0018874 MONDO:0850271 myeloid leukemia associated with down syndrome DOID:0080798 MONDO:equivalentTo myeloid leukemia associated with Down Syndrome An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. MONDO:0018872 MONDO:0850274 autosomal dominant craniometaphyseal dysplasia DOID:0080801 MONDO:equivalentTo autosomal dominant craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. MONDO:0015465|MONDO:0000426 -MONDO:0850275 autosomal recessive craniometaphyseal dysplasia DOID:0080802 MONDO:equivalentTo autosomal recessive craniometaphyseal dysplasia A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. MONDO:0015465|MONDO:0006025 MONDO:0850280 autosomal dominant craniodiaphyseal dysplasia DOID:0080807 MONDO:equivalentTo autosomal dominant craniodiaphyseal dysplasia A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. MONDO:0009031|MONDO:0000426 MONDO:0850282 chronic asthma DOID:0080809 MONDO:equivalentTo chronic asthma An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. MONDO:0004979 MONDO:0850283 acute asthma DOID:0080810 MONDO:equivalentTo acute asthma An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. MONDO:0004979 @@ -88,12 +72,10 @@ MONDO:0850299 x-linked warfarin sensitivity DOID:0080839 MONDO:equivalentTo X-li MONDO:0850301 pemphigoid DOID:0080841 MONDO:equivalentTo pemphigoid An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. MONDO:0019337 MONDO:0850302 intracranial meningioma DOID:0080842 MONDO:equivalentTo intracranial meningioma A meningioma that arises within the cranial cavity. MONDO:0016642 MONDO:0850303 supratentorial meningioma DOID:0080843 MONDO:equivalentTo supratentorial meningioma A meningioma that affects the supratentorial brain. MONDO:0016642 -MONDO:0850304 omodysplasia 1 DOID:0080844 MONDO:equivalentTo omodysplasia 1 An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. MONDO:0017136|MONDO:0006025 MONDO:0850305 omodysplasia 2 DOID:0080845 MONDO:equivalentTo omodysplasia 2 An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. MONDO:0017136|MONDO:0000426 MONDO:0850306 latent autoimmune diabetes in adults DOID:0080846 MONDO:equivalentTo latent autoimmune diabetes in adults A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. MONDO:0005147 MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma DOID:0080854 MONDO:equivalentTo anaplastic pleomorphic xanthoastrocytoma A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. MONDO:0021636 MONDO:0850313 parkinsonism DOID:0080855 MONDO:equivalentTo Parkinsonism A movement disorder that is characterized by disturbances of balance, gait and posture. MONDO:0005395 -MONDO:0850314 primary ovarian insufficiency 1 DOID:0080857 MONDO:equivalentTo primary ovarian insufficiency 1 A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). MONDO:0005387|MONDO:0000425 MONDO:0850315 primary ovarian insufficiency 2a DOID:0080858 MONDO:equivalentTo primary ovarian insufficiency 2A A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. MONDO:0005387|MONDO:0020604 MONDO:0850316 primary ovarian insufficiency 2b DOID:0080859 MONDO:equivalentTo primary ovarian insufficiency 2B A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. MONDO:0005387|MONDO:0020605 MONDO:0850317 primary ovarian insufficiency 3 DOID:0080860 MONDO:equivalentTo primary ovarian insufficiency 3 A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. MONDO:0005387|MONDO:0000426 @@ -119,23 +101,14 @@ MONDO:0850339 posterior fossa ependymoma DOID:0080889 MONDO:equivalentTo posteri MONDO:0850340 supratentorial ependymoma DOID:0080890 MONDO:equivalentTo supratentorial ependymoma A high grade ependymoma that is located within the supratentorial brain. MONDO:0016700 MONDO:0850346 oral rhabdomyosarcoma DOID:0080900 MONDO:equivalentTo oral rhabdomyosarcoma A rhabdomyosarcoma located in the oral cavity. MONDO:0005515|MONDO:0005212 MONDO:0850349 astroblastoma, mn1-altered DOID:0080904 MONDO:equivalentTo astroblastoma, MN1-altered An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. MONDO:0016707 -MONDO:0850351 cockayne syndrome a DOID:0080907 MONDO:equivalentTo Cockayne syndrome A A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. MONDO:0016006 -MONDO:0850352 cockayne syndrome b DOID:0080908 MONDO:equivalentTo Cockayne syndrome B A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. MONDO:0016006 MONDO:0850353 castration-resistant prostate carcinoma DOID:0080909 MONDO:equivalentTo castration-resistant prostate carcinoma A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. MONDO:0005159 -MONDO:0850354 cerebrooculofacioskeletal syndrome DOID:0080910 MONDO:equivalentTo cerebrooculofacioskeletal syndrome A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. MONDO:0016006 MONDO:0850358 cytochrome p450 oxidoreductase deficiency DOID:0080925 MONDO:equivalentTo cytochrome P450 oxidoreductase deficiency A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. MONDO:0005523|MONDO:0006025 -MONDO:0850360 apolipoprotein a-iv associated amyloidosis DOID:0080927 MONDO:equivalentTo apolipoprotein A-IV associated amyloidosis An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. MONDO:0019065|MONDO:0005240 MONDO:0850363 primary localized cutaneous amyloidosis 1 DOID:0080930 MONDO:equivalentTo primary localized cutaneous amyloidosis 1 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. MONDO:0015301 MONDO:0850364 primary localized cutaneous amyloidosis 2 DOID:0080931 MONDO:equivalentTo primary localized cutaneous amyloidosis 2 A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. MONDO:0015301 -MONDO:0850366 immunoglobulin light chain amyloidosis DOID:0080933 MONDO:equivalentTo immunoglobulin light chain amyloidosis An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. MONDO:0005154|MONDO:0019052|MONDO:0005240|MONDO:0005267|MONDO:0019065 -MONDO:0850367 immunoglobulin heavy chain amyloidosis DOID:0080934 MONDO:equivalentTo immunoglobulin heavy chain amyloidosis MONDO:0019065|MONDO:0005240 MONDO:0850368 immunoglobulin heavy-and-light chain DOID:0080935 MONDO:equivalentTo immunoglobulin heavy-and-light chain An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. MONDO:0019065 MONDO:0850372 hereditary angioedema type i DOID:0080939 MONDO:equivalentTo hereditary angioedema type I A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. MONDO:0019623|MONDO:0006025 MONDO:0850373 hereditary angioedema type iii DOID:0080940 MONDO:equivalentTo hereditary angioedema type III A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. MONDO:0019623 -MONDO:0850383 alopecia-mental retardation syndrome 4 DOID:0080950 MONDO:equivalentTo alopecia-mental retardation syndrome 4 An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. MONDO:0008756|MONDO:0006025 MONDO:0850384 alopecia-mental retardation syndrome 3 DOID:0080951 MONDO:equivalentTo alopecia-mental retardation syndrome 3 An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. MONDO:0008756|MONDO:0006025 -MONDO:0850386 amelogenesis imperfecta type 1j DOID:0080953 MONDO:equivalentTo amelogenesis imperfecta type 1J An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. MONDO:0019507|MONDO:0006025 -MONDO:0850392 amelogenesis imperfecta type 2a6 DOID:0080960 MONDO:equivalentTo amelogenesis imperfecta type 2A6 An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. MONDO:0019507|MONDO:0006025 MONDO:0850393 intracranial berry aneurysm 1 DOID:0080964 MONDO:equivalentTo intracranial berry aneurysm 1 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. MONDO:0016483|MONDO:0000426 MONDO:0850394 intracranial berry aneurysm 2 DOID:0080965 MONDO:equivalentTo intracranial berry aneurysm 2 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. MONDO:0016483 MONDO:0850395 intracranial berry aneurysm 3 DOID:0080966 MONDO:equivalentTo intracranial berry aneurysm 3 An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. MONDO:0016483|MONDO:0000426 @@ -154,7 +127,6 @@ MONDO:0850409 syndromic x-linked intellectual disorder lujan-fryns-type DOID:008 MONDO:0850410 ehlers-danlos syndrome periodontal type 1 DOID:0080986 MONDO:equivalentTo Ehlers-Danlos syndrome periodontal type 1 An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. MONDO:0020066|MONDO:0000426 MONDO:0850411 ehlers-danlos syndrome periodontal type 2 DOID:0080987 MONDO:equivalentTo Ehlers-Danlos syndrome periodontal type 2 An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. MONDO:0020066|MONDO:0000426 MONDO:0850413 king denborough syndrome DOID:0080990 MONDO:equivalentTo King Denborough syndrome A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. MONDO:0005336|MONDO:0000426 -MONDO:0850414 multiminicore disease DOID:0080991 MONDO:equivalentTo multiminicore disease A myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. MONDO:0005336 MONDO:0850415 rhabdomyolysis-myalgia syndrome DOID:0080992 MONDO:equivalentTo rhabdomyolysis-myalgia syndrome A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. MONDO:0005336 MONDO:0850416 autoimmune epilepsy DOID:0080994 MONDO:equivalentTo autoimmune epilepsy An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. MONDO:0005027|MONDO:0000568 MONDO:0850417 tuberculous encephalopathy DOID:0080995 MONDO:equivalentTo tuberculous encephalopathy A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. MONDO:0018076 @@ -162,7 +134,6 @@ MONDO:0850418 diffuse large b-cell lymphoma activated b-cell type DOID:0080996 M MONDO:0850419 diffuse large b-cell lymphoma germinal center b-cell type DOID:0080997 MONDO:equivalentTo diffuse large B-cell lymphoma germinal center B-cell type A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. MONDO:0018905 MONDO:0850420 acute necrotizing pancreatitis DOID:0080998 MONDO:equivalentTo acute necrotizing pancreatitis An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. MONDO:0006515 MONDO:0850421 acute hemorrhagic pancreatitis DOID:0080999 MONDO:equivalentTo acute hemorrhagic pancreatitis An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. MONDO:0006515 -MONDO:0850427 rnaset2-deficient cystic leukoencephalopathy DOID:0081007 MONDO:equivalentTo RNASET2-deficient cystic leukoencephalopathy A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. MONDO:0006025|MONDO:0019046 MONDO:0850432 critical covid-19 DOID:0081012 MONDO:equivalentTo critical COVID-19 A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. MONDO:0100096 MONDO:0850433 severe covid-19 DOID:0081013 MONDO:equivalentTo severe COVID-19 A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. MONDO:0100096 MONDO:0850434 non-severe covid-19 DOID:0081014 MONDO:equivalentTo non-severe COVID-19 A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. MONDO:0100096 @@ -171,8 +142,6 @@ MONDO:0850436 congenital fibrosis of the extraocular muscles 2 DOID:0081016 MOND MONDO:0850437 congenital fibrosis of the extraocular muscles 3a DOID:0081017 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 3A A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. MONDO:0007614|MONDO:0000426 MONDO:0850438 congenital fibrosis of the extraocular muscles 3c DOID:0081019 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 3C A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). MONDO:0007614|MONDO:0000426 MONDO:0850439 congenital fibrosis of the extraocular muscles 5 DOID:0081020 MONDO:equivalentTo congenital fibrosis of the extraocular muscles 5 A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. MONDO:0007614|MONDO:0006025 -MONDO:0850447 central conducting lymphatic anomaly DOID:0081030 MONDO:equivalentTo central conducting lymphatic anomaly A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. MONDO:0005833|MONDO:0000426 -MONDO:0850448 generalized lymphatic anomaly DOID:0081031 MONDO:equivalentTo generalized lymphatic anomaly A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. MONDO:0005833 MONDO:0850449 mixed phenotype acute leukemia with bcr-abl1 DOID:0081036 MONDO:equivalentTo mixed phenotype acute leukemia with BCR-ABL1 An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. MONDO:0020322 MONDO:0850450 mixed phenotype acute leukemia with mll rearranged DOID:0081037 MONDO:equivalentTo mixed phenotype acute leukemia with MLL rearranged An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. MONDO:0020322 MONDO:0850451 mixed phenotype acute leukemia, b/myeloid DOID:0081038 MONDO:equivalentTo mixed phenotype acute leukemia, B/myeloid An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. MONDO:0020322 @@ -187,31 +156,19 @@ MONDO:0850471 n1 diffuse large b-cell lymphoma DOID:0081067 MONDO:equivalentTo N MONDO:0850472 st2 diffuse large b-cell lymphoma DOID:0081068 MONDO:equivalentTo ST2 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. MONDO:0018905 MONDO:0850473 a53 diffuse large b-cell lymphoma DOID:0081069 MONDO:equivalentTo A53 diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. MONDO:0018905 MONDO:0850479 acute myeloid leukemia with t(6;9) (p23;q34.1) DOID:0081080 MONDO:equivalentTo acute myeloid leukemia with t(6;9) (p23;q34.1) An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. MONDO:0018874 -MONDO:0850480 acute promyelocytic leukemia with pml-rara DOID:0081081 MONDO:equivalentTo acute promyelocytic leukemia with PML-RARA An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. MONDO:0012883 -MONDO:0850481 acute myelomonocytic leukemia DOID:0081082 MONDO:equivalentTo acute myelomonocytic leukemia An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. MONDO:0018874 MONDO:0850482 acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) DOID:0081083 MONDO:equivalentTo acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. MONDO:0018874 -MONDO:0850483 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) DOID:0081084 MONDO:equivalentTo acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) Acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. MONDO:0018874 -MONDO:0850485 acute myeloid leukemia without maturation DOID:0081086 MONDO:equivalentTo acute myeloid leukemia without maturation An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. MONDO:0018874 -MONDO:0850486 acute myeloid leukemia with maturation DOID:0081087 MONDO:equivalentTo acute myeloid leukemia with maturation An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. MONDO:0018874 +MONDO:0850483 acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) DOID:0081084 MONDO:equivalentTo acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. MONDO:0018874 MONDO:0850489 acute myeloid leukemia with biallelic mutation of cebpa DOID:0081090 MONDO:equivalentTo acute myeloid leukemia with biallelic mutation of CEBPA An acute myeloid leukemia with double mutations of the CEBPA gene. MONDO:0018874 MONDO:0850490 acute myeloid leukemia with mutated runx1 DOID:0081091 MONDO:equivalentTo acute myeloid leukemia with mutated RUNX1 An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. MONDO:0018874 MONDO:0850491 acute myeloid leukemia with myelodysplasia-related changes DOID:0081092 MONDO:equivalentTo acute myeloid leukemia with myelodysplasia-related changes An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. MONDO:0018874 MONDO:0850492 acute myeloid leukemia with t(8;21); (q22; q22.1) DOID:0081093 MONDO:equivalentTo acute myeloid leukemia with t(8;21); (q22; q22.1) An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. MONDO:0018874 MONDO:0850493 acute myeloid leukemia with mll rearrangement DOID:0081094 MONDO:equivalentTo acute myeloid leukemia with MLL rearrangement An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. MONDO:0018874 -MONDO:0850494 acute myeloid leukemia with mutated cebpa DOID:0081095 MONDO:equivalentTo acute myeloid leukemia with mutated CEBPA An acute myeloid leukemia with non-germline mutations of the CEBPA gene. MONDO:0018874 MONDO:0850495 acute myeloid leukemia with t(1;22)(p13;q13) DOID:0081096 MONDO:equivalentTo acute myeloid leukemia with t(1;22)(p13;q13) An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. MONDO:0018874 MONDO:0850497 autosomal recessive intellectual developmental disorder 13 DOID:0081098 MONDO:equivalentTo autosomal recessive intellectual developmental disorder 13 An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. MONDO:0019502 -MONDO:0850498 neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies DOID:0081099 MONDO:equivalentTo neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. MONDO:0019502 -MONDO:0850499 spastic paraplegia with deafness DOID:0081100 MONDO:equivalentTo spastic paraplegia with deafness A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. MONDO:0019064|MONDO:0020605 -MONDO:0850502 hot water epilepsy DOID:0081104 MONDO:equivalentTo hot water epilepsy A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. MONDO:0017768 -MONDO:0850503 keratosis palmoplantaris striata DOID:0081105 MONDO:equivalentTo keratosis palmoplantaris striata A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. MONDO:0006590 MONDO:0850507 benign familial infantile seizures 1 DOID:0081114 MONDO:equivalentTo benign familial infantile seizures 1 MONDO:0017615|MONDO:0000426 MONDO:0850508 benign familial infantile seizures 2 DOID:0081115 MONDO:equivalentTo benign familial infantile seizures 2 MONDO:0017615|MONDO:0000426 -MONDO:0850509 benign familial infantile seizures 3 DOID:0081116 MONDO:equivalentTo benign familial infantile seizures 3 MONDO:0017615|MONDO:0000426 MONDO:0850510 benign familial infantile seizures 4 DOID:0081117 MONDO:equivalentTo benign familial infantile seizures 4 MONDO:0017615 MONDO:0850511 benign familial infantile seizures 5 DOID:0081118 MONDO:equivalentTo benign familial infantile seizures 5 MONDO:0017615|MONDO:0000426 -MONDO:0850512 benign familial infantile seizures 6 DOID:0081119 MONDO:equivalentTo benign familial infantile seizures 6 MONDO:0017615|MONDO:0000426 -MONDO:0850515 catel manzke syndrome DOID:0081122 MONDO:equivalentTo Catel Manzke syndrome MONDO:0005381 MONDO:0850516 x-linked mental retardation gustavson type DOID:0081123 MONDO:equivalentTo X-linked mental retardation Gustavson type A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. MONDO:0020119 MONDO:0850520 3-methylglutaconic aciduria type 7a DOID:0081133 MONDO:equivalentTo 3-methylglutaconic aciduria type 7a A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. MONDO:0014561|MONDO:0000426 MONDO:0850521 3-methylglutaconic aciduria type 7b DOID:0081134 MONDO:equivalentTo 3-methylglutaconic aciduria type 7b A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. MONDO:0014561 @@ -300,32 +257,12 @@ MONDO:0850616 acromesomelic dysplasia-3 DOID:0081237 MONDO:equivalentTo acromeso MONDO:0850617 acromesomelic dysplasia-4 DOID:0081238 MONDO:equivalentTo acromesomelic dysplasia-4 An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. MONDO:0019696|MONDO:0006025 MONDO:0850618 injection anthrax DOID:0081239 MONDO:equivalentTo injection anthrax An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. MONDO:0005119 MONDO:0850619 french canadian leigh disease DOID:0111180 MONDO:equivalentTo French Canadian Leigh disease MONDO:0009723 -MONDO:0850620 distal muscular dystrophy 3 DOID:0111189 MONDO:equivalentTo distal muscular dystrophy 3 MONDO:0018949 -MONDO:0850621 distal muscular dystrophy 4 DOID:0111190 MONDO:equivalentTo distal muscular dystrophy 4 MONDO:0018949 -MONDO:0850622 distal hereditary motor neuronopathy type 5 DOID:0111203 MONDO:equivalentTo distal hereditary motor neuronopathy type 5 MONDO:0015362 -MONDO:0850623 distal spinal muscular atrophy type 5 DOID:0111214 MONDO:equivalentTo distal spinal muscular atrophy type 5 MONDO:0015363 MONDO:0850625 centronuclear myopathy 1 DOID:0111223 MONDO:equivalentTo centronuclear myopathy 1 MONDO:0008048 -MONDO:0850626 centronuclear myopathy 4 DOID:0111224 MONDO:equivalentTo centronuclear myopathy 4 MONDO:0008048 -MONDO:0850627 palmoplantar keratoderma and congenital alopecia 1 DOID:0111244 MONDO:equivalentTo palmoplantar keratoderma and congenital alopecia 1 MONDO:0019287 -MONDO:0850628 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 DOID:0111246 MONDO:equivalentTo amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 MONDO:0005559 -MONDO:0850629 autosomal dominant hyaline body myopathy DOID:0111269 MONDO:equivalentTo autosomal dominant hyaline body myopathy MONDO:0018889|MONDO:0000426 -MONDO:0850631 histiocytosis-lymphadenopathy plus syndrome DOID:0111278 MONDO:equivalentTo histiocytosis-lymphadenopathy plus syndrome MONDO:0006025|MONDO:0002254 -MONDO:0850635 familial apolipoprotein a5 deficiency DOID:0111421 MONDO:equivalentTo familial apolipoprotein A5 deficiency MONDO:0018637|MONDO:0000426 -MONDO:0850636 progressive myoclonus epilepsy 4 DOID:0111444 MONDO:equivalentTo progressive myoclonus epilepsy 4 MONDO:0006025|MONDO:0020074 MONDO:0850637 progressive myoclonus epilepsy 1a DOID:0111452 MONDO:equivalentTo progressive myoclonus epilepsy 1A MONDO:0009698|MONDO:0006025 MONDO:0850638 dehydrated hereditary stomatocytosis 1 DOID:0111576 MONDO:equivalentTo dehydrated hereditary stomatocytosis 1 MONDO:0017910|MONDO:0000426 -MONDO:0850640 distal arthrogryposis type 1 DOID:0111596 MONDO:equivalentTo distal arthrogryposis type 1 MONDO:0019942 -MONDO:0850642 distal arthrogryposis type 2a DOID:0111605 MONDO:equivalentTo distal arthrogryposis type 2A MONDO:0008675|MONDO:0000426 -MONDO:0850643 distal arthrogryposis type 3 DOID:0111607 MONDO:equivalentTo distal arthrogryposis type 3 MONDO:0019942|MONDO:0000426 -MONDO:0850645 distal arthrogryposis type 6 DOID:0111609 MONDO:equivalentTo distal arthrogryposis type 6 MONDO:0019942 -MONDO:0850646 distal arthrogryposis type 4 DOID:0111610 MONDO:equivalentTo distal arthrogryposis type 4 MONDO:0019942 -MONDO:0850648 ectodermal dysplasia 1 DOID:0111664 MONDO:equivalentTo ectodermal dysplasia 1 MONDO:0020605|MONDO:0016535 -MONDO:0850650 focal nonepidermolytic palmoplantar keratoderma DOID:0111708 MONDO:equivalentTo focal nonepidermolytic palmoplantar keratoderma MONDO:0010962 MONDO:0850653 amelogenesis imperfecta type 3 DOID:0111721 MONDO:equivalentTo amelogenesis imperfecta type 3 MONDO:0019507 MONDO:0850654 familial episodic pain syndrome 1 DOID:0111729 MONDO:equivalentTo familial episodic pain syndrome 1 MONDO:0018319|MONDO:0000426 MONDO:0850655 familial episodic pain syndrome 3 DOID:0111731 MONDO:equivalentTo familial episodic pain syndrome 3 MONDO:0018319|MONDO:0000426 -MONDO:0850656 x-linked deafness 2 DOID:0111737 MONDO:equivalentTo X-linked deafness 2 MONDO:0019586 -MONDO:0850657 x-linked deafness 5 DOID:0111741 MONDO:equivalentTo X-linked deafness 5 MONDO:0020605|MONDO:0005244 MONDO:0850660 congenital nystagmus 1 DOID:0111790 MONDO:equivalentTo congenital nystagmus 1 MONDO:0005712|MONDO:0000429 MONDO:0850661 congenital nystagmus 7 DOID:0111791 MONDO:equivalentTo congenital nystagmus 7 MONDO:0005712|MONDO:0000426 MONDO:0850662 congenital nystagmus 2 DOID:0111792 MONDO:equivalentTo congenital nystagmus 2 MONDO:0005712|MONDO:0000426 @@ -333,21 +270,11 @@ MONDO:0850663 congenital nystagmus 3 DOID:0111793 MONDO:equivalentTo congenital MONDO:0850664 congenital nystagmus 6 DOID:0111795 MONDO:equivalentTo congenital nystagmus 6 MONDO:0005712 MONDO:0850665 congenital nystagmus 5 DOID:0111796 MONDO:equivalentTo congenital nystagmus 5 MONDO:0005712|MONDO:0020604 MONDO:0850666 autosomal recessive congenital nystagmus DOID:0111797 MONDO:equivalentTo autosomal recessive congenital nystagmus MONDO:0005712|MONDO:0006025 -MONDO:0850667 x-linked nephrolithiasis type i DOID:0111798 MONDO:equivalentTo X-linked nephrolithiasis type I MONDO:0006510|MONDO:0020605 MONDO:0850669 syndromic microphthalmia 12 DOID:0111800 MONDO:equivalentTo syndromic microphthalmia 12 MONDO:0016073|MONDO:0000429 MONDO:0850673 syndromic microphthalmia 11 DOID:0111804 MONDO:equivalentTo syndromic microphthalmia 11 MONDO:0016073 -MONDO:0850674 syndromic microphthalmia 6 DOID:0111805 MONDO:equivalentTo syndromic microphthalmia 6 MONDO:0016073|MONDO:0000426 -MONDO:0850675 syndromic microphthalmia 5 DOID:0111806 MONDO:equivalentTo syndromic microphthalmia 5 MONDO:0016073|MONDO:0000426 -MONDO:0850676 syndromic microphthalmia 2 DOID:0111809 MONDO:equivalentTo syndromic microphthalmia 2 MONDO:0016073|MONDO:0020604 -MONDO:0850677 syndromic microphthalmia 13 DOID:0111811 MONDO:equivalentTo syndromic microphthalmia 13 MONDO:0016073|MONDO:0000425 -MONDO:0850678 syndromic microphthalmia 10 DOID:0111812 MONDO:equivalentTo syndromic microphthalmia 10 MONDO:0016073 MONDO:0850681 low molecular weight proteinuria with hypercalciuric nephrocalcinosis DOID:0111815 MONDO:equivalentTo low molecular weight proteinuria with hypercalciuric nephrocalcinosis MONDO:0015612 -MONDO:0850686 zygodactyly 1 DOID:0111820 MONDO:equivalentTo zygodactyly 1 MONDO:0021002 -MONDO:0850694 x-linked spinocerebellar ataxia 5 DOID:0111833 MONDO:equivalentTo X-linked spinocerebellar ataxia 5 MONDO:0020605|MONDO:0016612 MONDO:0850696 congenital nongoitrous hypothyroidism 9 DOID:0111835 MONDO:equivalentTo congenital nongoitrous hypothyroidism 9 MONDO:0020605|MONDO:0018612 -MONDO:0850697 congenital nongoitrous hypothyroidism 7 DOID:0111836 MONDO:equivalentTo congenital nongoitrous hypothyroidism 7 MONDO:0006025|MONDO:0018612 MONDO:0850700 congenital disorder of glycosylation icc DOID:0111839 MONDO:equivalentTo congenital disorder of glycosylation Icc MONDO:0020605|MONDO:0005500 -MONDO:0850701 van esch-o'driscoll syndrome DOID:0111840 MONDO:equivalentTo Van Esch-O'Driscoll syndrome MONDO:0020119|MONDO:0020605 MONDO:0850705 x-linked intellectual developmental disorder 108 DOID:0111844 MONDO:equivalentTo X-linked intellectual developmental disorder 108 MONDO:0020605|MONDO:0020119 MONDO:0850708 osteogenesis imperfecta type 19 DOID:0111847 MONDO:equivalentTo osteogenesis imperfecta type 19 MONDO:0019019|MONDO:0020605 MONDO:0850709 osteogenesis imperfecta type 18 DOID:0111848 MONDO:equivalentTo osteogenesis imperfecta type 18 MONDO:0019019|MONDO:0006025 @@ -361,35 +288,12 @@ MONDO:0850716 primary ciliary dyskinesia 42 DOID:0111855 MONDO:equivalentTo prim MONDO:0850717 primary ciliary dyskinesia 43 DOID:0111856 MONDO:equivalentTo primary ciliary dyskinesia 43 MONDO:0016575|MONDO:0000426 MONDO:0850718 primary ciliary dyskinesia 45 DOID:0111857 MONDO:equivalentTo primary ciliary dyskinesia 45 MONDO:0016575|MONDO:0006025 MONDO:0850719 primary ciliary dyskinesia 41 DOID:0111858 MONDO:equivalentTo primary ciliary dyskinesia 41 MONDO:0016575|MONDO:0006025 -MONDO:0850746 diamond-blackfan anemia 15 with mandibulofacial dysostosis DOID:0111894 MONDO:equivalentTo Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0015253|MONDO:0000426 MONDO:0850756 autosomal recessive thrombophilia due to protein c deficiency DOID:0111904 MONDO:equivalentTo autosomal recessive thrombophilia due to protein C deficiency MONDO:0019145|MONDO:0006025 MONDO:0850761 autosomal dominant thrombophilia due to protein c deficiency DOID:0111909 MONDO:equivalentTo autosomal dominant thrombophilia due to protein C deficiency MONDO:0019145 -MONDO:0850781 severe congenital encephalopathy due to mecp2 mutation DOID:0111932 MONDO:equivalentTo severe congenital encephalopathy due to MECP2 mutation MONDO:0005560|MONDO:0020605 -MONDO:0850782 phosphoglycerate kinase 1 deficiency DOID:0111933 MONDO:equivalentTo phosphoglycerate kinase 1 deficiency MONDO:0020605|MONDO:0002908 -MONDO:0850784 immunodeficiency 16 DOID:0111935 MONDO:equivalentTo immunodeficiency 16 MONDO:0006025|MONDO:0015131 -MONDO:0850786 immunodeficiency 22 DOID:0111937 MONDO:equivalentTo immunodeficiency 22 MONDO:0006025|MONDO:0015974 -MONDO:0850787 immunodeficiency 24 DOID:0111938 MONDO:equivalentTo immunodeficiency 24 MONDO:0015974|MONDO:0006025 -MONDO:0850789 immunodeficiency 42 DOID:0111940 MONDO:equivalentTo immunodeficiency 42 MONDO:0006025|MONDO:0003778 -MONDO:0850792 immunodeficiency 48 DOID:0111943 MONDO:equivalentTo immunodeficiency 48 MONDO:0006025|MONDO:0001222 -MONDO:0850797 immunodeficiency 46 DOID:0111948 MONDO:equivalentTo immunodeficiency 46 MONDO:0015131|MONDO:0006025 -MONDO:0850800 immunodeficiency 40 DOID:0111951 MONDO:equivalentTo immunodeficiency 40 MONDO:0006025|MONDO:0015131 -MONDO:0850806 immunodeficiency 11a DOID:0111957 MONDO:equivalentTo immunodeficiency 11A MONDO:0006025|MONDO:0015974 -MONDO:0850808 immunodeficiency 15b DOID:0111959 MONDO:equivalentTo immunodeficiency 15B MONDO:0015974|MONDO:0006025 -MONDO:0850810 immunodeficiency 26 DOID:0111961 MONDO:equivalentTo immunodeficiency 26 MONDO:0006025|MONDO:0015974 -MONDO:0850813 immunodeficiency 54 DOID:0111967 MONDO:equivalentTo immunodeficiency 54 MONDO:0006025|MONDO:0850199 -MONDO:0850815 immunodeficiency 10 DOID:0111970 MONDO:equivalentTo immunodeficiency 10 MONDO:0006025|MONDO:0850200 -MONDO:0850820 immunodeficiency 9 DOID:0111976 MONDO:equivalentTo immunodeficiency 9 MONDO:0006025|MONDO:0001222 MONDO:0850823 immunodeficiency 43 DOID:0111981 MONDO:equivalentTo immunodeficiency 43 MONDO:0006025|MONDO:0003778 MONDO:0850824 immunodeficiency 56 DOID:0111982 MONDO:equivalentTo immunodeficiency 56 MONDO:0006025|MONDO:0015131 -MONDO:0850826 immunodeficiency 58 DOID:0111984 MONDO:equivalentTo immunodeficiency 58 MONDO:0015131|MONDO:0006025 -MONDO:0850829 immunodeficiency 30 DOID:0111990 MONDO:equivalentTo immunodeficiency 30 MONDO:0006025|MONDO:0850200 -MONDO:0850837 immunodeficiency 34 DOID:0112000 MONDO:equivalentTo immunodeficiency 34 MONDO:0020605|MONDO:0005910 -MONDO:0850838 immunodeficiency 50 DOID:0112001 MONDO:equivalentTo immunodeficiency 50 MONDO:0020605|MONDO:0015131 MONDO:0850841 growth hormone secreting pituitary adenoma 2 DOID:0112007 MONDO:equivalentTo growth hormone secreting pituitary adenoma 2 MONDO:0006238 -MONDO:0850842 pituitary adenoma 5 DOID:0112008 MONDO:equivalentTo pituitary adenoma 5 MONDO:0006373 MONDO:0850843 pituitary adenoma 1 DOID:0112009 MONDO:equivalentTo pituitary adenoma 1 MONDO:0006373 -MONDO:0850844 pituitary adenoma 3 DOID:0112010 MONDO:equivalentTo pituitary adenoma 3 MONDO:0006373 -MONDO:0850845 mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112011 MONDO:equivalentTo mutilating palmoplantar keratoderma with periorificial keratotic plaques MONDO:0006566 MONDO:0850846 congenital megabladder DOID:0112014 MONDO:equivalentTo congenital megabladder MONDO:0006026|MONDO:0000426 MONDO:0850847 non-syndromic x-linked intellectual disability 2 DOID:0112016 MONDO:equivalentTo non-syndromic X-linked intellectual disability 2 MONDO:0020604|MONDO:0019181 MONDO:0850848 non-syndromic x-linked intellectual disability 73 DOID:0112017 MONDO:equivalentTo non-syndromic X-linked intellectual disability 73 MONDO:0020605|MONDO:0019181 @@ -412,11 +316,9 @@ MONDO:0850864 non-syndromic x-linked intellectual disability 81 DOID:0112033 MON MONDO:0850865 non-syndromic x-linked intellectual disability 9 DOID:0112034 MONDO:equivalentTo non-syndromic X-linked intellectual disability 9 MONDO:0020605|MONDO:0019181 MONDO:0850866 non-syndromic x-linked intellectual disability 96 DOID:0112035 MONDO:equivalentTo non-syndromic X-linked intellectual disability 96 MONDO:0020605|MONDO:0019181 MONDO:0850867 non-syndromic x-linked intellectual disability 105 DOID:0112036 MONDO:equivalentTo non-syndromic X-linked intellectual disability 105 MONDO:0020605|MONDO:0019181 -MONDO:0850869 non-syndromic x-linked intellectual disability 1 DOID:0112038 MONDO:equivalentTo non-syndromic X-linked intellectual disability 1 MONDO:0019181|MONDO:0020604 MONDO:0850870 non-syndromic x-linked intellectual disability 77 DOID:0112039 MONDO:equivalentTo non-syndromic X-linked intellectual disability 77 MONDO:0020605|MONDO:0019181 MONDO:0850871 non-syndromic x-linked intellectual disability 100 DOID:0112040 MONDO:equivalentTo non-syndromic X-linked intellectual disability 100 MONDO:0020605|MONDO:0019181 MONDO:0850872 non-syndromic x-linked intellectual disability 90 DOID:0112041 MONDO:equivalentTo non-syndromic X-linked intellectual disability 90 MONDO:0020605|MONDO:0019181 -MONDO:0850873 tonne-kalscheuer syndrome DOID:0112042 MONDO:equivalentTo Tonne-Kalscheuer syndrome MONDO:0020119 MONDO:0850874 non-syndromic x-linked intellectual disability 91 DOID:0112043 MONDO:equivalentTo non-syndromic X-linked intellectual disability 91 MONDO:0020604|MONDO:0019181 MONDO:0850875 non-syndromic x-linked intellectual disability 98 DOID:0112044 MONDO:equivalentTo non-syndromic X-linked intellectual disability 98 MONDO:0020604|MONDO:0019181 MONDO:0850876 non-syndromic x-linked intellectual disability 93 DOID:0112045 MONDO:equivalentTo non-syndromic X-linked intellectual disability 93 MONDO:0020605|MONDO:0019181 @@ -435,17 +337,8 @@ MONDO:0850889 non-syndromic x-linked intellectual disability 41 DOID:0112058 MON MONDO:0850890 non-syndromic x-linked intellectual disability 72 DOID:0112059 MONDO:equivalentTo non-syndromic X-linked intellectual disability 72 MONDO:0020605|MONDO:0019181 MONDO:0850891 raynaud-claes syndrome DOID:0112060 MONDO:equivalentTo Raynaud-Claes syndrome MONDO:0020604|MONDO:0020119 MONDO:0850894 nuclear type mitochondrial complex i deficiency DOID:0112065 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency MONDO:0100133 -MONDO:0850895 nuclear type mitochondrial complex i deficiency 20 DOID:0112072 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 20 MONDO:0006025 MONDO:0850896 mitochondrial type mitochondrial complex i deficiency DOID:0112100 MONDO:equivalentTo mitochondrial type mitochondrial complex I deficiency MONDO:0100133 -MONDO:0850897 sotos syndrome 2 DOID:0112102 MONDO:equivalentTo Sotos syndrome 2 MONDO:0019349|MONDO:0000426 -MONDO:0850902 mcleod syndrome DOID:0112107 MONDO:equivalentTo McLeod syndrome MONDO:0016987|MONDO:0000425 MONDO:0850921 stocco dos santos type x-linked intellectual disability DOID:0112126 MONDO:equivalentTo Stocco Dos Santos type X-linked intellectual disability MONDO:0020119 -MONDO:0850922 hrpt-related hyperuricemia DOID:0112127 MONDO:equivalentTo HRPT-related hyperuricemia MONDO:0020605|MONDO:0019052 -MONDO:0850924 severe congenital neutropenia 7 DOID:0112129 MONDO:equivalentTo severe congenital neutropenia 7 MONDO:0006025|MONDO:0018542 -MONDO:0850926 severe congenital neutropenia 5 DOID:0112132 MONDO:equivalentTo severe congenital neutropenia 5 MONDO:0018542|MONDO:0006025 -MONDO:0850927 severe congenital neutropenia 3 DOID:0112133 MONDO:equivalentTo severe congenital neutropenia 3 MONDO:0018542|MONDO:0006025 -MONDO:0850928 severe congenital neutropenia 6 DOID:0112134 MONDO:equivalentTo severe congenital neutropenia 6 MONDO:0006025|MONDO:0018542 -MONDO:0850929 severe congenital neutropenia 4 DOID:0112136 MONDO:equivalentTo severe congenital neutropenia 4 MONDO:0006025|MONDO:0018542 MONDO:0850931 primary coenzyme q10 deficiency 9 DOID:0112138 MONDO:equivalentTo primary coenzyme Q10 deficiency 9 MONDO:0006025|MONDO:0018151 MONDO:0850932 nuclear type mitochondrial complex i deficiency 35 DOID:0112139 MONDO:equivalentTo nuclear type mitochondrial complex I deficiency 35 MONDO:0100133|MONDO:0006025 MONDO:0850946 hypomyelinating leukodystrophy 20 DOID:0112153 MONDO:equivalentTo hypomyelinating leukodystrophy 20 MONDO:0019046|MONDO:0006025 @@ -456,39 +349,23 @@ MONDO:0850958 autosomal dominant nonsyndromic deafness 74 DOID:0112165 MONDO:equ MONDO:0850959 autosomal dominant nonsyndromic deafness 75 DOID:0112166 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 75 MONDO:0019587 MONDO:0850960 autosomal dominant nonsyndromic deafness 76 DOID:0112167 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 76 MONDO:0019587 MONDO:0850961 autosomal dominant nonsyndromic deafness 77 DOID:0112168 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 77 MONDO:0019587 -MONDO:0850969 urocanase deficiency DOID:0112180 MONDO:equivalentTo urocanase deficiency MONDO:0006025|MONDO:0019228 -MONDO:0850976 spondylometaepiphyseal dysplasia, short limb-hand type DOID:0112196 MONDO:equivalentTo spondylometaepiphyseal dysplasia, short limb-hand type MONDO:0006025|MONDO:0100510 -MONDO:0850977 osteogenesis imperfecta type 21 DOID:0112201 MONDO:equivalentTo osteogenesis imperfecta type 21 MONDO:0019019|MONDO:0006025 -MONDO:0850979 chondrodysplasia with joint dislocations gpapp type DOID:0112224 MONDO:equivalentTo chondrodysplasia with joint dislocations gPAPP type MONDO:0005516|MONDO:0006025 -MONDO:0850984 lissencephaly 5 DOID:0112230 MONDO:equivalentTo lissencephaly 5 MONDO:0006025|MONDO:0018838 -MONDO:0850990 x-linked lissencephaly 2 DOID:0112238 MONDO:equivalentTo X-linked lissencephaly 2 MONDO:0018838|MONDO:0000425 MONDO:0850995 focal segmental glomerulosclerosis 3 DOID:0112245 MONDO:equivalentTo focal segmental glomerulosclerosis 3 MONDO:0005363|MONDO:0000429 -MONDO:0850998 17-beta hydroxysteroid dehydrogenase 3 deficiency DOID:0112248 MONDO:equivalentTo 17-beta hydroxysteroid dehydrogenase 3 deficiency MONDO:0006025|MONDO:0005518 -MONDO:0851000 gaucher's disease type iiic DOID:0112250 MONDO:equivalentTo Gaucher's disease type IIIC MONDO:0009267 -MONDO:0851006 n-acetylglutamate synthase deficiency DOID:0112258 MONDO:equivalentTo N-acetylglutamate synthase deficiency MONDO:0006025|MONDO:0004739 -MONDO:0851009 hypoinsulinemic hypoglycemia with hemihypertrophy DOID:0112263 MONDO:equivalentTo hypoinsulinemic hypoglycemia with hemihypertrophy MONDO:0019052|MONDO:0000426 -MONDO:0851015 primary ovarian insufficiency 18 DOID:0112269 MONDO:equivalentTo primary ovarian insufficiency 18 MONDO:0005387|MONDO:0006025 MONDO:0851018 spermatogenic failure 50 DOID:0112272 MONDO:equivalentTo spermatogenic failure 50 MONDO:0004983|MONDO:0006025 -MONDO:0851023 primary ovarian insufficiency 19 DOID:0112278 MONDO:equivalentTo primary ovarian insufficiency 19 MONDO:0005387|MONDO:0006025 MONDO:0851025 spondyloepiphyseal dysplasia stanescu type DOID:0112281 MONDO:equivalentTo spondyloepiphyseal dysplasia Stanescu type MONDO:0016761|MONDO:0000426 MONDO:0851026 spondyloepiphyseal dysplasia kimberley type DOID:0112282 MONDO:equivalentTo spondyloepiphyseal dysplasia Kimberley type MONDO:0016761|MONDO:0000426 MONDO:0851027 spondyloepiphyseal dysplasia kondo-fu type DOID:0112283 MONDO:equivalentTo spondyloepiphyseal dysplasia Kondo-Fu type MONDO:0016761|MONDO:0006025 -MONDO:0851030 spondyloepiphyseal dysplasia-brachydactyly and distinctive speech DOID:0112287 MONDO:equivalentTo spondyloepiphyseal dysplasia-brachydactyly and distinctive speech MONDO:0016761 MONDO:0851031 spondyloepiphyseal dysplasia nishimura type DOID:0112288 MONDO:equivalentTo spondyloepiphyseal dysplasia Nishimura type MONDO:0016761|MONDO:0000426 MONDO:0851035 spondylometaphyseal dysplasia sedaghatian type DOID:0112298 MONDO:equivalentTo spondylometaphyseal dysplasia Sedaghatian type MONDO:0006025|MONDO:0016763 MONDO:0851042 brain small vessel disease DOID:0112313 MONDO:equivalentTo brain small vessel disease MONDO:0005560 -MONDO:0851045 alacrima, achalasia, and impaired intellectual development syndrome DOID:0112321 MONDO:equivalentTo alacrima, achalasia, and impaired intellectual development syndrome MONDO:0015286|MONDO:0006025 MONDO:0851047 pontocerebellar hypoplasia type 11 DOID:0112324 MONDO:equivalentTo pontocerebellar hypoplasia type 11 MONDO:0020135|MONDO:0006025 MONDO:0851048 pontocerebellar hypoplasia type 14 DOID:0112325 MONDO:equivalentTo pontocerebellar hypoplasia type 14 MONDO:0020135|MONDO:0006025 MONDO:0851049 pontocerebellar hypoplasia type 15 DOID:0112326 MONDO:equivalentTo pontocerebellar hypoplasia type 15 MONDO:0020135|MONDO:0006025 -MONDO:0851050 pontocerebellar hypoplasia type 12 DOID:0112327 MONDO:equivalentTo pontocerebellar hypoplasia type 12 MONDO:0020135|MONDO:0006025 MONDO:0851052 pontocerebellar hypoplasia type 13 DOID:0112332 MONDO:equivalentTo pontocerebellar hypoplasia type 13 MONDO:0020135|MONDO:0006025 MONDO:0851053 pontocerebellar hypoplasia type 16 DOID:0112333 MONDO:equivalentTo pontocerebellar hypoplasia type 16 MONDO:0020135|MONDO:0006025 MONDO:0851059 craniotubular dysplasia ikegawa type DOID:0112340 MONDO:equivalentTo craniotubular dysplasia Ikegawa type MONDO:0009031|MONDO:0006025 MONDO:0851060 hereditary spastic paraplegia 80 DOID:0112341 MONDO:equivalentTo hereditary spastic paraplegia 80 MONDO:0019064|MONDO:0000426 MONDO:0851061 hereditary spastic paraplegia 86 DOID:0112342 MONDO:equivalentTo hereditary spastic paraplegia 86 MONDO:0019064|MONDO:0006025 MONDO:0851062 hereditary spastic paraplegia 82 DOID:0112343 MONDO:equivalentTo hereditary spastic paraplegia 82 MONDO:0019064|MONDO:0006025 -MONDO:0851063 hereditary spastic paraplegia 79 DOID:0112344 MONDO:equivalentTo hereditary spastic paraplegia 79 MONDO:0019064|MONDO:0006025 MONDO:0851064 hereditary spastic paraplegia 85 DOID:0112345 MONDO:equivalentTo hereditary spastic paraplegia 85 MONDO:0019064|MONDO:0006025 MONDO:0851065 hereditary spastic paraplegia 83 DOID:0112346 MONDO:equivalentTo hereditary spastic paraplegia 83 MONDO:0019064|MONDO:0006025 MONDO:0851066 hereditary spastic paraplegia 84 DOID:0112347 MONDO:equivalentTo hereditary spastic paraplegia 84 MONDO:0019064|MONDO:0006025 @@ -499,83 +376,39 @@ MONDO:0851081 spondylocostal dysostosis 2 DOID:0112362 MONDO:equivalentTo spondy MONDO:0851083 spondylocostal dysostosis 4 DOID:0112364 MONDO:equivalentTo spondylocostal dysostosis 4 MONDO:0006025|MONDO:0000359 MONDO:0851084 spondylocostal dysostosis 1 DOID:0112365 MONDO:equivalentTo spondylocostal dysostosis 1 MONDO:0006025|MONDO:0000359 MONDO:0851091 autosomal dominant auditory neuropathy 3 DOID:0112373 MONDO:equivalentTo autosomal dominant auditory neuropathy 3 MONDO:0019587 -MONDO:0851093 muscular dystrophy-dystroglycanopathy type c12 DOID:0112381 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C12 MONDO:0006025|MONDO:0018276 -MONDO:0851094 muscular dystrophy-dystroglycanopathy type c8 DOID:0112382 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type C8 MONDO:0006025|MONDO:0018276 MONDO:0851096 multisystem proteinopathy DOID:070355 MONDO:equivalentTo multisystem proteinopathy A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. MONDO:0020128 -MONDO:0851098 human papillomavirus infectious disease DOID:11166 MONDO:equivalentTo Human papillomavirus infectious disease A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact. MONDO:0005108 MONDO:0851102 pulmonary artery disease DOID:60001 MONDO:equivalentTo pulmonary artery disease MONDO:0005275|MONDO:0000473 MONDO:0858910 dropped head syndrome DOID:0060034 MONDO:equivalentTo dropped head syndrome A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. MONDO:0000812 -MONDO:0858911 overactive bladder syndrome DOID:0070355 MONDO:equivalentTo overactive bladder syndrome A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. MONDO:0002254|MONDO:0006026 MONDO:0858913 peroxisome biogenesis disorder 3b DOID:0081241 MONDO:equivalentTo peroxisome biogenesis disorder 3B A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. MONDO:0019234|MONDO:0006025 -MONDO:0858914 autoimmune interstitial lung, joint, and kidney disease DOID:0081242 MONDO:equivalentTo autoimmune interstitial lung, joint, and kidney disease A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. MONDO:0007179|MONDO:0000426|MONDO:0002254 MONDO:0858915 rhizomelic chondrodysplasia punctate type 4 DOID:0081243 MONDO:equivalentTo rhizomelic chondrodysplasia punctate type 4 A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. MONDO:0015776 MONDO:0858916 pituitary blastoma DOID:0081244 MONDO:equivalentTo pituitary blastoma A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. MONDO:0002109|MONDO:0005565 MONDO:0858917 cauda equina neuroendocrine tumor DOID:0081245 MONDO:equivalentTo cauda equina neuroendocrine tumor A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. MONDO:0003164 MONDO:0858918 teratoma with somatic-type malignancy DOID:0081246 MONDO:equivalentTo teratoma with somatic-type malignancy A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. MONDO:0002601 MONDO:0858921 ewsr1-negative small round cell tumor DOID:0081249 MONDO:equivalentTo EWSR1-negative small round cell tumor A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. MONDO:0006974 MONDO:0858924 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID:0081262 MONDO:equivalentTo intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. MONDO:0015802 -MONDO:0858925 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID:0081263 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. MONDO:0019502 MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome DOID:0081264 MONDO:equivalentTo developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). MONDO:0002254 -MONDO:0858927 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID:0081265 MONDO:equivalentTo intellectual developmental disorder with abnormal behavior, microcephaly, and short stature An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. MONDO:0019502 -MONDO:0858928 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures DOID:0081266 MONDO:equivalentTo pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. MONDO:0018838 -MONDO:0858929 graft-versus-host disease DOID:0081267 MONDO:equivalentTo graft-versus-host disease An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. MONDO:0005046 -MONDO:0858930 pulmonary venoocclusive disease 1 DOID:0081268 MONDO:equivalentTo pulmonary venoocclusive disease 1 A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. MONDO:0009937|MONDO:0000426 -MONDO:0858931 pulmonary venoocclusive disease 2 DOID:0081269 MONDO:equivalentTo pulmonary venoocclusive disease 2 A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. MONDO:0009937|MONDO:0006025 -MONDO:0858932 smith-mccort dysplasia 1 DOID:0081270 MONDO:equivalentTo Smith-McCort dysplasia 1 A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. MONDO:0015799 -MONDO:0858933 smith-mccort dysplasia 2 DOID:0081271 MONDO:equivalentTo Smith-McCort dysplasia 2 A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. MONDO:0015799 -MONDO:0858934 sandestig-stefanova syndrome DOID:0081272 MONDO:equivalentTo Sandestig-Stefanova syndrome A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. MONDO:0002254|MONDO:0006025 -MONDO:0858935 siddiqi syndrome DOID:0081273 MONDO:equivalentTo Siddiqi syndrome A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. MONDO:0019245 -MONDO:0858936 peroxisome biogenesis disorder 14b DOID:0081274 MONDO:equivalentTo peroxisome biogenesis disorder 14B A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. MONDO:0019234|MONDO:0006025 MONDO:0858937 neurodevelopmental disorder with eye movement abnormalities and ataxia DOID:0081275 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. MONDO:0015802 MONDO:0858938 cerebellar atrophy, visual impairment, and psychomotor retardation DOID:0081276 MONDO:equivalentTo cerebellar atrophy, visual impairment, and psychomotor retardation A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation. MONDO:0002254|MONDO:0006025 MONDO:0858939 diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype DOID:0081277 MONDO:equivalentTo diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. MONDO:0100342 MONDO:0858940 infant-type hemispheric glioma DOID:0081278 MONDO:equivalentTo infant-type hemispheric glioma A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. MONDO:0021636 -MONDO:0858941 pituicytoma DOID:0081280 MONDO:equivalentTo pituicytoma A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. MONDO:0003257 -MONDO:0858942 papillary glioneuronal tumor DOID:0081283 MONDO:equivalentTo papillary glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. MONDO:0000628 -MONDO:0858943 rosette-forming glioneuronal tumor DOID:0081284 MONDO:equivalentTo rosette-forming glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. MONDO:0000628 MONDO:0858944 myxoid glioneuronal tumor DOID:0081285 MONDO:equivalentTo myxoid glioneuronal tumor A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. MONDO:0000628 MONDO:0858945 embryonal tumor with multilayered rosettes DOID:0081286 MONDO:equivalentTo embryonal tumor with multilayered rosettes A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. MONDO:0000640 -MONDO:0858946 white sponge nevus 1 DOID:0081287 MONDO:equivalentTo white sponge nevus 1 A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. MONDO:0000426|MONDO:0015748 -MONDO:0858947 white sponge nevus 2 DOID:0081288 MONDO:equivalentTo white sponge nevus 2 A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. MONDO:0000426|MONDO:0015748 -MONDO:0858948 antley-bixler syndrome DOID:0081289 MONDO:equivalentTo Antley-Bixler syndrome A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. MONDO:0015469 MONDO:0858949 chronic traumatic encephalopathy DOID:0081291 MONDO:equivalentTo chronic traumatic encephalopathy A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. MONDO:0005574 MONDO:0858950 traumatic brain injury DOID:0081292 MONDO:equivalentTo traumatic brain injury A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. MONDO:0005560 -MONDO:0858951 salivary gland mucoepidermoid carcinoma DOID:0081293 MONDO:equivalentTo salivary gland mucoepidermoid carcinoma A mucoepidermoid carcinoma located_in the salivary gland. MONDO:0003036|MONDO:0000521 -MONDO:0858952 neuronal intranuclear inclusion disease DOID:0081294 MONDO:equivalentTo neuronal intranuclear inclusion disease A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. MONDO:0005559|MONDO:0000426 MONDO:0858953 essential tremor 6 DOID:0081295 MONDO:equivalentTo essential tremor 6 An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. MONDO:0003233|MONDO:0000426 -MONDO:0858954 oculopharyngodistal myopathy DOID:0081296 MONDO:equivalentTo oculopharyngodistal myopathy A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. MONDO:0005336 MONDO:0858955 intellectual developmental disorder with ocular anomalies and distinctive facial features DOID:0081301 MONDO:equivalentTo intellectual developmental disorder with ocular anomalies and distinctive facial features A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. MONDO:0000508 MONDO:0858956 diffuse leptomeningeal glioneuronal tumor DOID:0081302 MONDO:equivalentTo diffuse leptomeningeal glioneuronal tumor A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. MONDO:0000628 MONDO:0858957 multinodular and vacuolating neuronal tumor DOID:0081303 MONDO:equivalentTo multinodular and vacuolating neuronal tumor A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. MONDO:0000628 MONDO:0858958 high-grade astrocytoma with piloid features DOID:0081304 MONDO:equivalentTo high-grade astrocytoma with piloid features An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. MONDO:0016684 MONDO:0858959 polymorphous low grade neuroepithelial tumour of the young DOID:0081305 MONDO:equivalentTo polymorphous low grade neuroepithelial tumour of the young A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. MONDO:0000628 MONDO:0858960 spindle cell oncocytoma DOID:0081306 MONDO:equivalentTo spindle cell oncocytoma A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. MONDO:0003257 -MONDO:0858961 lymphomatoid granulomatosis DOID:0081307 MONDO:equivalentTo lymphomatoid granulomatosis A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. MONDO:0016537 -MONDO:0858962 intravascular large b-cell lymphoma DOID:0081311 MONDO:equivalentTo intravascular large B-cell lymphoma A B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. MONDO:0004095 -MONDO:0858963 t-cell non-hodgkin lymphoma DOID:0081312 MONDO:equivalentTo T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. MONDO:0018908 -MONDO:0858964 primary diffuse large b-cell lymphoma of the central nervous system DOID:0081313 MONDO:equivalentTo primary diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. MONDO:0018905 -MONDO:0858965 extraventricular neurocytoma DOID:0081314 MONDO:equivalentTo extraventricular neurocytoma A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. MONDO:0002682 MONDO:0858966 central nervous system tumor with bcor internal tandem duplication DOID:0081315 MONDO:equivalentTo central nervous system tumor with BCOR internal tandem duplication A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. MONDO:0000640 MONDO:0858967 primary intracranial sarcoma, dicer1-mutant DOID:0081316 MONDO:equivalentTo primary intracranial sarcoma, DICER1-mutant A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. MONDO:0002216 -MONDO:0858968 multiple synostoses syndrome 1 DOID:0081317 MONDO:equivalentTo multiple synostoses syndrome 1 A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. MONDO:0017923 -MONDO:0858969 multiple synostoses syndrome 2 DOID:0081318 MONDO:equivalentTo multiple synostoses syndrome 2 A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. MONDO:0017923 -MONDO:0858970 multiple synostoses syndrome 3 DOID:0081319 MONDO:equivalentTo multiple synostoses syndrome 3 A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. MONDO:0017923 -MONDO:0858971 multiple synostoses syndrome 4 DOID:0081320 MONDO:equivalentTo multiple synostoses syndrome 4 A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. MONDO:0017923 -MONDO:0858972 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a DOID:0081321 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. MONDO:0017415|MONDO:0000426 -MONDO:0858973 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b DOID:0081322 MONDO:equivalentTo contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. MONDO:0017415|MONDO:0006025 MONDO:0858974 breast implant illness DOID:0081323 MONDO:equivalentTo breast implant illness A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. MONDO:0002657|MONDO:0002254 MONDO:0858975 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss DOID:0081324 MONDO:equivalentTo neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. MONDO:0019502 -MONDO:0858976 oxoglutarate dehydrogenase deficiency DOID:0081326 MONDO:equivalentTo oxoglutarate dehydrogenase deficiency An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. MONDO:0006025|MONDO:0004736 -MONDO:0858977 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures DOID:0081327 MONDO:equivalentTo neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. MONDO:0005559 -MONDO:0858980 bronchopulmonary dysplasia DOID:11650 MONDO:equivalentTo bronchopulmonary dysplasia A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. MONDO:0005275 -MONDO:0859580 cd3gamma deficiency DOID:0060018 MONDO:equivalentTo CD3gamma deficiency MONDO:0015974|MONDO:0006025 -MONDO:0859581 autosomal dominant cutis laxa 2 DOID:0070136 MONDO:equivalentTo autosomal dominant cutis laxa 2 MONDO:0019571 MONDO:0859582 arthrogryposis multiplex congenita-6 DOID:0070336 MONDO:equivalentTo arthrogryposis multiplex congenita-6 An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. MONDO:0015168 MONDO:0859583 spinal muscular atrophy with lower extremity predominant 2a DOID:0070349 MONDO:equivalentTo spinal muscular atrophy with lower extremity predominant 2A A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. MONDO:0018190 MONDO:0859584 spinal muscular atrophy with lower extremity predominant 1 DOID:0070351 MONDO:equivalentTo spinal muscular atrophy with lower extremity predominant 1 A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. MONDO:0018190 -MONDO:0859585 developmental and epileptic encephalopathy 82 DOID:0080715 MONDO:equivalentTo developmental and epileptic encephalopathy 82 MONDO:0100062|MONDO:0006025 -MONDO:0859586 kenny-caffey syndrome type 1 DOID:0080722 MONDO:equivalentTo Kenny-Caffey syndrome type 1 A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E. MONDO:0016516|MONDO:0006025 -MONDO:0859587 kenny-caffey syndrome type 2 DOID:0080723 MONDO:equivalentTo Kenny-Caffey syndrome type 2 A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. MONDO:0016516|MONDO:0000426 MONDO:0859588 keratosis pilaris atrophicans faciei DOID:0080752 MONDO:equivalentTo keratosis pilaris atrophicans faciei A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. MONDO:0018855 MONDO:0859589 x-linked keratosis follicularis spinulosa decalvans DOID:0080754 MONDO:equivalentTo X-linked keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. MONDO:0000136|MONDO:0020605 MONDO:0859590 autosomal dominant keratosis follicularis spinulosa decalvans DOID:0080755 MONDO:equivalentTo autosomal dominant keratosis follicularis spinulosa decalvans A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. MONDO:0000136 @@ -592,9 +425,6 @@ MONDO:0859600 arthrogryposis multiplex congenita-3 DOID:0080979 MONDO:equivalent MONDO:0859601 arthrogryposis multiplex congenita-4 DOID:0080980 MONDO:equivalentTo arthrogryposis multiplex congenita-4 An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. MONDO:0015168 MONDO:0859602 arthrogryposis multiplex congenita-5 DOID:0080981 MONDO:equivalentTo arthrogryposis multiplex congenita-5 An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. MONDO:0015168 MONDO:0859603 glutatione synthetase deficiency with 5-oxoprolinuria DOID:0081034 MONDO:equivalentTo glutatione synthetase deficiency with 5-oxoprolinuria A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. MONDO:0017909|MONDO:0006025 -MONDO:0859604 frontonasal dysplasia 1 DOID:0081045 MONDO:equivalentTo frontonasal dysplasia 1 A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. MONDO:0016643|MONDO:0006025 -MONDO:0859605 frontonasal dysplasia 2 DOID:0081046 MONDO:equivalentTo frontonasal dysplasia 2 A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. MONDO:0016643|MONDO:0006025 -MONDO:0859606 frontonasal dysplasia 3 DOID:0081047 MONDO:equivalentTo frontonasal dysplasia 3 A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. MONDO:0016643|MONDO:0006025 MONDO:0859607 x-linked central diabetes insipidus DOID:0081059 MONDO:equivalentTo X-linked central diabetes insipidus A central diabetes insipidus that has_material_basis_in X-linked inheritance. MONDO:0015790|MONDO:0000425 MONDO:0859608 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 DOID:0081124 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. MONDO:0031329|MONDO:0006025 MONDO:0859609 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 DOID:0081125 MONDO:equivalentTo craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. MONDO:0031329 @@ -604,73 +434,30 @@ MONDO:0859612 bh4-deficient hyperphenylalaninemia c DOID:0081130 MONDO:equivalen MONDO:0859613 bh4-deficient hyperphenylalaninemia d DOID:0081131 MONDO:equivalentTo BH4-deficient hyperphenylalaninemia D A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. MONDO:0850519|MONDO:0006025 MONDO:0859614 diffuse low-grade glioma, mapk pathway–altered DOID:0081260 MONDO:equivalentTo diffuse low-grade glioma, MAPK pathway–altered A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma. MONDO:0021637 MONDO:0859615 diffuse astrocytoma, myb- or mybl1-altered DOID:0081279 MONDO:equivalentTo diffuse astrocytoma, MYB- or MYBL1-altered A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. MONDO:0016686 -MONDO:0859616 developmental and epileptic encephalopathy 94 DOID:0081325 MONDO:equivalentTo developmental and epileptic encephalopathy 94 A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. MONDO:0100062 -MONDO:0859617 spermatogenic failure 9 DOID:0111156 MONDO:equivalentTo spermatogenic failure 9 MONDO:0006025|MONDO:0015746 -MONDO:0859618 x-linked spinocerebellar ataxia 1 DOID:0111829 MONDO:equivalentTo X-linked spinocerebellar ataxia 1 MONDO:0016612|MONDO:0020605 MONDO:0859619 x-linked spinocerebellar ataxia 2 DOID:0111830 MONDO:equivalentTo X-linked spinocerebellar ataxia 2 MONDO:0016612 -MONDO:0859620 x-linked spinocerebellar ataxia 3 DOID:0111831 MONDO:equivalentTo X-linked spinocerebellar ataxia 3 MONDO:0016612 -MONDO:0859621 x-linked spinocerebellar ataxia 4 DOID:0111832 MONDO:equivalentTo X-linked spinocerebellar ataxia 4 MONDO:0016612 MONDO:0859622 x-linked congenital bilateral absence of vas deferens DOID:0111863 MONDO:equivalentTo X-linked congenital bilateral absence of vas deferens MONDO:0018801 MONDO:0859623 autosomal recessive congenital bilateral absence of vas deferens DOID:0111864 MONDO:equivalentTo autosomal recessive congenital bilateral absence of vas deferens MONDO:0018801|MONDO:0006025 MONDO:0859624 nonphotosensitive trichothiodystrophy DOID:0111867 MONDO:equivalentTo nonphotosensitive trichothiodystrophy MONDO:0018053 MONDO:0859625 b cell and dendritic cell deficiency DOID:0111964 MONDO:equivalentTo B cell and dendritic cell deficiency MONDO:0015131 MONDO:0859626 t cell, b cell, and nk cell deficiency DOID:0111965 MONDO:equivalentTo T cell, B cell, and NK cell deficiency MONDO:0015131 MONDO:0859627 monocyte, dendritic cell, and nk cell deficiency DOID:0111966 MONDO:equivalentTo monocyte, dendritic cell, and NK cell deficiency MONDO:0015131 -MONDO:0859628 immunodeficiency 41 DOID:0111968 MONDO:equivalentTo immunodeficiency 41 MONDO:0015131|MONDO:0006025 -MONDO:0859629 immunodeficiency 32a DOID:0111986 MONDO:equivalentTo immunodeficiency 32A MONDO:0850812|MONDO:0000426 -MONDO:0859630 immunodeficiency 12 DOID:0111988 MONDO:equivalentTo immunodeficiency 12 MONDO:0015131|MONDO:0006025 -MONDO:0859631 immunodeficiency 55 DOID:0111993 MONDO:equivalentTo immunodeficiency 55 MONDO:0015131|MONDO:0006025 -MONDO:0859632 immunodeficiency 63 DOID:0111997 MONDO:equivalentTo immunodeficiency 63 MONDO:0850200|MONDO:0006025 -MONDO:0859633 immunodeficiency 71 DOID:0112004 MONDO:equivalentTo immunodeficiency 71 MONDO:0015131|MONDO:0006025 -MONDO:0859634 immunodeficiency 72 DOID:0112015 MONDO:equivalentTo immunodeficiency 72 MONDO:0015131|MONDO:0006025 MONDO:0859635 severe congenital neutropenia 2 DOID:0112131 MONDO:equivalentTo severe congenital neutropenia 2 MONDO:0008742 MONDO:0859636 severe congenital neutropenia 8 DOID:0112135 MONDO:equivalentTo severe congenital neutropenia 8 MONDO:0008742 MONDO:0859637 combined deficiency of vitamin k-dependent clotting factors 1 DOID:0112173 MONDO:equivalentTo combined deficiency of vitamin K-dependent clotting factors 1 MONDO:0010187|MONDO:0006025 MONDO:0859638 combined deficiency of vitamin k-dependent clotting factors 2 DOID:0112174 MONDO:equivalentTo combined deficiency of vitamin K-dependent clotting factors 2 MONDO:0010187|MONDO:0006025 -MONDO:0859639 mayer-rokitansky-kuster-hauser syndrome type 2 DOID:0112179 MONDO:equivalentTo Mayer-Rokitansky-Kuster-Hauser syndrome type 2 MONDO:0017771 -MONDO:0859640 thyroid dyshormonogenesis 1 DOID:0112185 MONDO:equivalentTo thyroid dyshormonogenesis 1 MONDO:0010132|MONDO:0006025 -MONDO:0859641 developmental and epileptic encephalopathy 67 DOID:0112203 MONDO:equivalentTo developmental and epileptic encephalopathy 67 MONDO:0100062|MONDO:0000426 -MONDO:0859642 developmental and epileptic encephalopathy 68 DOID:0112204 MONDO:equivalentTo developmental and epileptic encephalopathy 68 MONDO:0100062|MONDO:0006025 -MONDO:0859643 developmental and epileptic encephalopathy 69 DOID:0112205 MONDO:equivalentTo developmental and epileptic encephalopathy 69 MONDO:0100062|MONDO:0000426 -MONDO:0859644 developmental and epileptic encephalopathy 70 DOID:0112206 MONDO:equivalentTo developmental and epileptic encephalopathy 70 MONDO:0100062|MONDO:0000426 -MONDO:0859645 developmental and epileptic encephalopathy 71 DOID:0112207 MONDO:equivalentTo developmental and epileptic encephalopathy 71 MONDO:0100062|MONDO:0006025 -MONDO:0859646 developmental and epileptic encephalopathy 72 DOID:0112208 MONDO:equivalentTo developmental and epileptic encephalopathy 72 MONDO:0100062|MONDO:0000426 -MONDO:0859647 developmental and epileptic encephalopathy 73 DOID:0112209 MONDO:equivalentTo developmental and epileptic encephalopathy 73 MONDO:0100062|MONDO:0000426 -MONDO:0859648 developmental and epileptic encephalopathy 74 DOID:0112210 MONDO:equivalentTo developmental and epileptic encephalopathy 74 MONDO:0100062|MONDO:0000426 -MONDO:0859649 developmental and epileptic encephalopathy 75 DOID:0112211 MONDO:equivalentTo developmental and epileptic encephalopathy 75 MONDO:0100062|MONDO:0006025 -MONDO:0859650 developmental and epileptic encephalopathy 76 DOID:0112212 MONDO:equivalentTo developmental and epileptic encephalopathy 76 MONDO:0100062|MONDO:0006025 MONDO:0859651 developmental and epileptic encephalopathy 77 DOID:0112213 MONDO:equivalentTo developmental and epileptic encephalopathy 77 MONDO:0100062|MONDO:0006025 -MONDO:0859652 developmental and epileptic encephalopathy 78 DOID:0112214 MONDO:equivalentTo developmental and epileptic encephalopathy 78 MONDO:0100062|MONDO:0000426 -MONDO:0859653 developmental and epileptic encephalopathy 79 DOID:0112215 MONDO:equivalentTo developmental and epileptic encephalopathy 79 MONDO:0100062|MONDO:0000426 -MONDO:0859654 developmental and epileptic encephalopathy 80 DOID:0112216 MONDO:equivalentTo developmental and epileptic encephalopathy 80 MONDO:0100062|MONDO:0006025 -MONDO:0859655 developmental and epileptic encephalopathy 81 DOID:0112217 MONDO:equivalentTo developmental and epileptic encephalopathy 81 MONDO:0100062|MONDO:0006025 -MONDO:0859656 developmental and epileptic encephalopathy 83 DOID:0112218 MONDO:equivalentTo developmental and epileptic encephalopathy 83 MONDO:0100062|MONDO:0006025 -MONDO:0859657 developmental and epileptic encephalopathy 84 DOID:0112219 MONDO:equivalentTo developmental and epileptic encephalopathy 84 MONDO:0100062|MONDO:0006025 -MONDO:0859658 developmental and epileptic encephalopathy 86 DOID:0112220 MONDO:equivalentTo developmental and epileptic encephalopathy 86 MONDO:0100062|MONDO:0006025 -MONDO:0859659 developmental and epileptic encephalopathy 87 DOID:0112221 MONDO:equivalentTo developmental and epileptic encephalopathy 87 MONDO:0100062|MONDO:0000426 -MONDO:0859660 developmental and epileptic encephalopathy 88 DOID:0112222 MONDO:equivalentTo developmental and epileptic encephalopathy 88 MONDO:0100062|MONDO:0006025 MONDO:0859661 bh4-deficient hyperphenylalaninemia b DOID:0112225 MONDO:equivalentTo BH4-deficient hyperphenylalaninemia B MONDO:0850519|MONDO:0006025 MONDO:0859662 lissencephaly 6 DOID:0112236 MONDO:equivalentTo lissencephaly 6 MONDO:0015204|MONDO:0006025 MONDO:0859663 congenital symmetric circumferential skin creases 1 DOID:0112242 MONDO:equivalentTo congenital symmetric circumferential skin creases 1 MONDO:0007990|MONDO:0000426 MONDO:0859664 congenital symmetric circumferential skin creases 2 DOID:0112243 MONDO:equivalentTo congenital symmetric circumferential skin creases 2 MONDO:0007990|MONDO:0000426 -MONDO:0859665 glutathione synthetase deficiency of erythrocytes DOID:0112252 MONDO:equivalentTo glutathione synthetase deficiency of erythrocytes MONDO:0017909|MONDO:0006025 -MONDO:0859666 combined cellular and humoral immune defects with granulomas DOID:0112253 MONDO:equivalentTo combined cellular and humoral immune defects with granulomas MONDO:0015131|MONDO:0006025 -MONDO:0859667 developmental and epileptic encephalopathy 93 DOID:0112275 MONDO:equivalentTo developmental and epileptic encephalopathy 93 MONDO:0100062|MONDO:0000426 -MONDO:0859668 autosomal dominant spondyloepiphyseal dysplasia tarda DOID:0112285 MONDO:equivalentTo autosomal dominant spondyloepiphyseal dysplasia tarda MONDO:0019667|MONDO:0000426 MONDO:0859669 autosomal recessive spondyloepiphyseal dysplasia tarda leroy-spranger type DOID:0112291 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type MONDO:0019667|MONDO:0006025 MONDO:0859670 spondyloepiphyseal dysplasia tarda with intellectual disability DOID:0112292 MONDO:equivalentTo spondyloepiphyseal dysplasia tarda with intellectual disability MONDO:0019667|MONDO:0006025 -MONDO:0859671 autosomal recessive spondyloepiphyseal dysplasia tarda DOID:0112293 MONDO:equivalentTo autosomal recessive spondyloepiphyseal dysplasia tarda MONDO:0019667|MONDO:0006025 -MONDO:0859672 spondylometaphyseal dysplasia algerian type DOID:0112296 MONDO:equivalentTo spondylometaphyseal dysplasia Algerian type MONDO:0016763 MONDO:0859673 spondylometaphyseal dysplasia corner fracture type DOID:0112297 MONDO:equivalentTo spondylometaphyseal dysplasia corner fracture type MONDO:0016763|MONDO:0000426 -MONDO:0859674 spondylometaphyseal dysplasia with cone-rod dystrophy DOID:0112300 MONDO:equivalentTo spondylometaphyseal dysplasia with cone-rod dystrophy MONDO:0016763|MONDO:0006025 MONDO:0859675 spondylometaphyseal dysplasia type a4 DOID:0112301 MONDO:equivalentTo spondylometaphyseal dysplasia type A4 MONDO:0016763 MONDO:0859676 spondylometaphyseal dysplasia east african type DOID:0112302 MONDO:equivalentTo spondylometaphyseal dysplasia East African type MONDO:0016763 MONDO:0859677 spondylometaphyseal dysplasia megarbane-dagher-melike type DOID:0112304 MONDO:equivalentTo spondylometaphyseal dysplasia Megarbane-Dagher-Melike type MONDO:0016763|MONDO:0006025 -MONDO:0859678 spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism DOID:0112305 MONDO:equivalentTo spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism MONDO:0016763 MONDO:0859679 central precocious puberty 2 DOID:0112309 MONDO:equivalentTo central precocious puberty 2 MONDO:0019165|MONDO:0000426 MONDO:0859680 central precocious puberty 1 DOID:0112310 MONDO:equivalentTo central precocious puberty 1 MONDO:0019165|MONDO:0000426 -MONDO:0859681 schindler disease type 1 DOID:0112318 MONDO:equivalentTo Schindler disease type 1 MONDO:0017779 -MONDO:0859682 kanzaki disease DOID:0112319 MONDO:equivalentTo Kanzaki disease MONDO:0017779 MONDO:0859683 pontocerebellar hypoplasia type 1d DOID:0112323 MONDO:equivalentTo pontocerebellar hypoplasia type 1D MONDO:0016396|MONDO:0006025 MONDO:0859684 pontocerebellar hypoplasia type 2f DOID:0112329 MONDO:equivalentTo pontocerebellar hypoplasia type 2F MONDO:0016759|MONDO:0006025 MONDO:0859685 pontocerebellar hypoplasia type 1e DOID:0112330 MONDO:equivalentTo pontocerebellar hypoplasia type 1E MONDO:0016396|MONDO:0006025 @@ -679,3 +466,23 @@ MONDO:0859687 pontocerebellar hypoplasia type 1c DOID:0112334 MONDO:equivalentTo MONDO:0859688 muscular dystrophy-dystroglycanopathy type b DOID:0112375 MONDO:equivalentTo muscular dystrophy-dystroglycanopathy type B MONDO:0018276 MONDO:0859689 hepatobiliary benign neoplasm DOID:3117 MONDO:equivalentTo hepatobiliary benign neoplasm MONDO:0000385 MONDO:0859690 malignant cystadenoma DOID:60004 MONDO:equivalentTo malignant cystadenoma MONDO:0850125 +MONDO:0859740 autosomal recessive chronic granulomatous disease 5 DOID:0070368 MONDO:equivalentTo autosomal recessive chronic granulomatous disease 5 +MONDO:0859741 restrictive dermopathy 1 DOID:0070369 MONDO:equivalentTo restrictive dermopathy 1 +MONDO:0859742 restrictive dermopathy 2 DOID:0070370 MONDO:equivalentTo restrictive dermopathy 2 +MONDO:0859743 hot water epilepsy 1 DOID:0081106 MONDO:equivalentTo hot water epilepsy 1 MONDO:0013229|MONDO:0000426 +MONDO:0859744 hot water epilepsy 2 DOID:0081107 MONDO:equivalentTo hot water epilepsy 2 MONDO:0013229 +MONDO:0859745 keratosis palmoplantaris striata 1 DOID:0081108 MONDO:equivalentTo keratosis palmoplantaris striata 1 MONDO:0018865|MONDO:0000426 +MONDO:0859746 antley-bixler syndrome without disordered steroidogenesis DOID:0081290 MONDO:equivalentTo Antley-Bixler syndrome without disordered steroidogenesis An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. MONDO:0008803|MONDO:0000426 +MONDO:0859747 grade i lymphomatoid granulomatosis DOID:0081308 MONDO:equivalentTo grade I lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. MONDO:0019466 +MONDO:0859748 grade ii lymphomatoid granulomatosis DOID:0081309 MONDO:equivalentTo grade II lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. MONDO:0019466 +MONDO:0859749 grade iii lymphomatoid granulomatosis DOID:0081310 MONDO:equivalentTo grade III lymphomatoid granulomatosis A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. MONDO:0019466 +MONDO:0859750 familial hyperinsulinemic hypoglycemia 8 DOID:0081328 MONDO:equivalentTo familial hyperinsulinemic hypoglycemia 8 A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. +MONDO:0859751 glycogen storage disease i DOID:0081329 MONDO:equivalentTo glycogen storage disease I A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. +MONDO:0859752 glycogen storage disease ib DOID:0081330 MONDO:equivalentTo glycogen storage disease Ib A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. +MONDO:0859753 glycogen storage disease ic DOID:0081331 MONDO:equivalentTo glycogen storage disease Ic A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. +MONDO:0859754 progeroid syndrome DOID:0081332 MONDO:equivalentTo progeroid syndrome A syndrome that is characterized by the premature onset of age-related pathologies. +MONDO:0859755 wiedemann-rautenstrauch syndrome DOID:0081333 MONDO:equivalentTo Wiedemann-Rautenstrauch syndrome A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. +MONDO:0859756 nestor-guillermo progeria syndrome DOID:0081334 MONDO:equivalentTo Nestor-Guillermo progeria syndrome A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. +MONDO:0859757 focal nonepidermolytic palmoplantar keratoderma 2 DOID:0111711 MONDO:equivalentTo focal nonepidermolytic palmoplantar keratoderma 2 MONDO:0014622|MONDO:0000426 +MONDO:0859758 x-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques DOID:0112012 MONDO:equivalentTo X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques MONDO:0031421|MONDO:0020605 +MONDO:0859759 distal arthrogryposis type 1c DOID:0112190 MONDO:equivalentTo distal arthrogryposis type 1C MONDO:0015240|MONDO:0000429 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index faf847cc..f62b1967 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,212 +1,51 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % MONDO:0859050 schistosoma mansoni infection, susceptibility/resistance to OMIM:181460 MONDO:equivalentTo schistosoma mansoni infection, susceptibility/resistance to -MONDO:0859081 chromosome xq13 duplication syndrome OMIM:301069 MONDO:equivalentTo chromosome xq13 duplication syndrome MONDO:0859082 thrombophilia, x-linked, due to factor 8 defect OMIM:301071 MONDO:equivalentTo thrombophilia, x-linked, due to factor 8 defect -MONDO:0859083 systemic lupus erythematosus 17 OMIM:301080 MONDO:equivalentTo systemic lupus erythematosus 17 -MONDO:0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, x-linked OMIM:301094 MONDO:equivalentTo neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked -MONDO:0859136 alzahrani-kuwahara syndrome OMIM:619268 MONDO:equivalentTo alzahrani-kuwahara syndrome -MONDO:0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia OMIM:619286 MONDO:equivalentTo neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia MONDO:0859138 mahvash disease OMIM:619290 MONDO:equivalentTo mahvash disease -MONDO:0859139 blepharophimosis-impaired intellectual development syndrome OMIM:619293 MONDO:equivalentTo blepharophimosis-impaired intellectual development syndrome -MONDO:0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia OMIM:619306 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia -MONDO:0859142 hiatt-neu-cooper neurodevelopmental syndrome OMIM:619311 MONDO:equivalentTo hiatt-neu-cooper neurodevelopmental syndrome -MONDO:0859143 radio-tartaglia syndrome OMIM:619312 MONDO:equivalentTo radio-tartaglia syndrome -MONDO:0859144 buratti-harel syndrome OMIM:619314 MONDO:equivalentTo buratti-harel syndrome -MONDO:0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies OMIM:619321 MONDO:equivalentTo growth restriction, hypoplastic kidneys, alopecia, and distinctive facies -MONDO:0859148 neurodevelopmental disorder with seizures and gingival overgrowth OMIM:619323 MONDO:equivalentTo neurodevelopmental disorder with seizures and gingival overgrowth MONDO:0859149 hypertriglyceridemia 2 OMIM:619324 MONDO:equivalentTo hypertriglyceridemia 2 MONDO:0859151 fibromuscular dysplasia, multifocal OMIM:619329 MONDO:equivalentTo fibromuscular dysplasia, multifocal -MONDO:0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM:619333 MONDO:equivalentTo neurodevelopmental disorder with cerebellar atrophy and motor dysfunction -MONDO:0859155 chromosome 1p36 deletion syndrome, proximal OMIM:619343 MONDO:equivalentTo chromosome 1p36 deletion syndrome, proximal MONDO:0859156 dysostosis multiplex, ain-naz iia OMIM:619345 MONDO:equivalentTo dysostosis multiplex, ain-naz iia -MONDO:0859157 visceral myopathy 2 OMIM:619350 MONDO:equivalentTo visceral myopathy 2 -MONDO:0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset OMIM:619352 MONDO:equivalentTo ataxia, intention tremor, and hypotonia syndrome, childhood-onset -MONDO:0859159 deafness, cataract, impaired intellectual development, and polyneuropathy OMIM:619354 MONDO:equivalentTo deafness, cataract, impaired intellectual development, and polyneuropathy -MONDO:0859160 mitochondrial complex 4 deficiency, nuclear iia 22 OMIM:619355 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 22 -MONDO:0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome OMIM:619356 MONDO:equivalentTo onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome -MONDO:0859162 neurodevelopmental disorder with infantile epileptic spasms OMIM:619373 MONDO:equivalentTo neurodevelopmental disorder with infantile epileptic spasms -MONDO:0859163 faundes-banka syndrome OMIM:619376 MONDO:equivalentTo faundes-banka syndrome -MONDO:0859164 osteootohepatoenteric syndrome OMIM:619377 MONDO:equivalentTo osteootohepatoenteric syndrome -MONDO:0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities OMIM:619383 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities MONDO:0859166 visceral leiomyopathy, african degenerative OMIM:619400 MONDO:equivalentTo visceral leiomyopathy, african degenerative MONDO:0859167 hypokalemic tubulopathy and deafness OMIM:619406 MONDO:equivalentTo hypokalemic tubulopathy and deafness -MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy OMIM:619424 MONDO:equivalentTo myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy -MONDO:0859169 white-kernohan syndrome OMIM:619426 MONDO:equivalentTo white-kernohan syndrome MONDO:0859170 retinal dystrophy and microvillus inclusion disease OMIM:619446 MONDO:equivalentTo retinal dystrophy and microvillus inclusion disease -MONDO:0859171 luo-schoch-yamamoto syndrome OMIM:619460 MONDO:equivalentTo luo-schoch-yamamoto syndrome MONDO:0859172 hemolytic disease of fetus and newborn, rh-induced OMIM:619462 MONDO:equivalentTo hemolytic disease of fetus and newborn, rh-induced -MONDO:0859173 sick sinus syndrome 4 OMIM:619464 MONDO:equivalentTo sick sinus syndrome 4 -MONDO:0859174 usmani-riazuddin syndrome, autosomal dominant OMIM:619467 MONDO:equivalentTo usmani-riazuddin syndrome, autosomal dominant -MONDO:0859175 nephronophthisis-like nephropathy 2 OMIM:619468 MONDO:equivalentTo nephronophthisis-like nephropathy 2 -MONDO:0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities OMIM:619470 MONDO:equivalentTo neurodevelopmental disorder with motor and speech delay and behavioral abnormalities -MONDO:0859177 viss syndrome OMIM:619472 MONDO:equivalentTo viss syndrome -MONDO:0859178 developmental delay, impaired speech, and behavioral abnormalities OMIM:619475 MONDO:equivalentTo developmental delay, impaired speech, and behavioral abnormalities -MONDO:0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum OMIM:619480 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and thin corpus callosum -MONDO:0859180 bile acid malabsorption, primary, 2 OMIM:619481 MONDO:equivalentTo bile acid malabsorption, primary, 2 -MONDO:0859181 degcags syndrome OMIM:619488 MONDO:equivalentTo degcags syndrome -MONDO:0859182 short stature, dauber-argente iia OMIM:619489 MONDO:equivalentTo short stature, dauber-argente iia -MONDO:0859183 parkinson disease 24, autosomal dominant, susceptibility to OMIM:619491 MONDO:equivalentTo parkinson disease 24, autosomal dominant, susceptibility to MONDO:0859184 ventriculomegaly and arthrogryposis OMIM:619501 MONDO:equivalentTo ventriculomegaly and arthrogryposis -MONDO:0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies OMIM:619503 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and dysmorphic facies -MONDO:0859186 chopra-amiel-gordon syndrome OMIM:619504 MONDO:equivalentTo chopra-amiel-gordon syndrome -MONDO:0859187 neurodevelopmental disorder with hypotonia and brain abnormalities OMIM:619512 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and brain abnormalities -MONDO:0859188 neurodevelopmental disorder with seizures and brain abnormalities OMIM:619517 MONDO:equivalentTo neurodevelopmental disorder with seizures and brain abnormalities -MONDO:0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM:619518 MONDO:equivalentTo muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome -MONDO:0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities OMIM:619522 MONDO:equivalentTo neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities -MONDO:0859191 biliary, renal, neurologic, and skeletal syndrome OMIM:619534 MONDO:equivalentTo biliary, renal, neurologic, and skeletal syndrome MONDO:0859192 cerebral cavernous malformations 4 OMIM:619538 MONDO:equivalentTo cerebral cavernous malformations 4 -MONDO:0859193 neuroocular syndrome OMIM:619539 MONDO:equivalentTo neuroocular syndrome -MONDO:0859194 boudin-mortier syndrome OMIM:619543 MONDO:equivalentTo boudin-mortier syndrome MONDO:0859195 hypoplastic femurs and pelvis OMIM:619545 MONDO:equivalentTo hypoplastic femurs and pelvis -MONDO:0859196 usmani-riazuddin syndrome, autosomal recessive OMIM:619548 MONDO:equivalentTo usmani-riazuddin syndrome, autosomal recessive -MONDO:0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies OMIM:619556 MONDO:equivalentTo intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies -MONDO:0859198 short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies OMIM:619557 MONDO:equivalentTo short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies -MONDO:0859199 developmental delay with or without intellectual impairment or behavioral abnormalities OMIM:619575 MONDO:equivalentTo developmental delay with or without intellectual impairment or behavioral abnormalities -MONDO:0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects OMIM:619576 MONDO:equivalentTo cerebellar ataxia, brain abnormalities, and cardiac conduction defects -MONDO:0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures OMIM:619580 MONDO:equivalentTo neurodevelopmental disorder with impaired language and ataxia and with or without seizures -MONDO:0859202 developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities OMIM:619595 MONDO:equivalentTo developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MONDO:0859203 rhizomelic dysplasia, ain-naz iia OMIM:619598 MONDO:equivalentTo rhizomelic dysplasia, ain-naz iia -MONDO:0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies OMIM:619602 MONDO:equivalentTo fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MONDO:0859205 delayed puberty, self-limited OMIM:619613 MONDO:equivalentTo delayed puberty, self-limited -MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity OMIM:619616 MONDO:equivalentTo neurodevelopmental disorder with hearing loss and spasticity -MONDO:0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay OMIM:619639 MONDO:equivalentTo neurodevelopmental disorder with hypotonia and gross motor and speech delay -MONDO:0859208 hengel-maroofian-schols syndrome OMIM:619641 MONDO:equivalentTo hengel-maroofian-schols syndrome -MONDO:0859209 zaki syndrome OMIM:619648 MONDO:equivalentTo zaki syndrome -MONDO:0859210 chromosome 16q12 duplication syndrome OMIM:619649 MONDO:equivalentTo chromosome 16q12 duplication syndrome -MONDO:0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia OMIM:619651 MONDO:equivalentTo neurodevelopmental disorder with hyperkinetic movements and dyskinesia -MONDO:0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus OMIM:619653 MONDO:equivalentTo neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus MONDO:0859213 congenital heart defects, multiple types, 8, with or without heterotaxy OMIM:619657 MONDO:equivalentTo congenital heart defects, multiple types, 8, with or without heterotaxy -MONDO:0859214 marbach-schaaf neurodevelopmental syndrome OMIM:619680 MONDO:equivalentTo marbach-schaaf neurodevelopmental syndrome -MONDO:0859215 dystonia, early-onset, and/or spastic paraplegia OMIM:619681 MONDO:equivalentTo dystonia, early-onset, and/or spastic paraplegia -MONDO:0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis OMIM:619685 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis -MONDO:0859217 brunet-wagner neurodevelopmental syndrome OMIM:619690 MONDO:equivalentTo brunet-wagner neurodevelopmental syndrome -MONDO:0859218 developmental delay with variable neurologic and brain abnormalities OMIM:619694 MONDO:equivalentTo developmental delay with variable neurologic and brain abnormalities -MONDO:0859219 rauch-steindl syndrome OMIM:619695 MONDO:equivalentTo rauch-steindl syndrome -MONDO:0859220 ferguson-bonni neurodevelopmental syndrome OMIM:619699 MONDO:equivalentTo ferguson-bonni neurodevelopmental syndrome -MONDO:0859221 yoon-bellen neurodevelopmental syndrome OMIM:619701 MONDO:equivalentTo yoon-bellen neurodevelopmental syndrome MONDO:0859222 heterotaxy, visceral, 12, autosomal OMIM:619702 MONDO:equivalentTo heterotaxy, visceral, 12, autosomal -MONDO:0859223 congenital disorder of glycosylation, iia iw, autosomal dominant OMIM:619714 MONDO:equivalentTo congenital disorder of glycosylation, iia iw, autosomal dominant -MONDO:0859224 intellectual disability and myopathy syndrome OMIM:619719 MONDO:equivalentTo intellectual disability and myopathy syndrome -MONDO:0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities OMIM:619725 MONDO:equivalentTo neurodevelopmental disorder with or without variable movement or behavioral abnormalities MONDO:0859226 craniotubular dysplasia, ikegawa iia OMIM:619727 MONDO:equivalentTo craniotubular dysplasia, ikegawa iia -MONDO:0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism OMIM:619761 MONDO:equivalentTo cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism -MONDO:0859230 kury-isidor syndrome OMIM:619762 MONDO:equivalentTo kury-isidor syndrome MONDO:0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin OMIM:619769 MONDO:equivalentTo macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin -MONDO:0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies OMIM:619797 MONDO:equivalentTo neurodevelopmental disorder with central hypotonia and dysmorphic facies MONDO:0859233 epidermolysis bullosa, junctional 6, with pyloric atresia OMIM:619817 MONDO:equivalentTo epidermolysis bullosa, junctional 6, with pyloric atresia -MONDO:0859234 agammaglobulinemia 8b, autosomal recessive OMIM:619824 MONDO:equivalentTo agammaglobulinemia 8b, autosomal recessive -MONDO:0859235 auditory neuropathy, autosomal dominant 3 OMIM:619832 MONDO:equivalentTo auditory neuropathy, autosomal dominant 3 -MONDO:0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities OMIM:619833 MONDO:equivalentTo neurodevelopmental disorder with neuromuscular and skeletal abnormalities -MONDO:0859237 3-methylglutaconic aciduria, iia 7a OMIM:619835 MONDO:equivalentTo 3-methylglutaconic aciduria, iia 7a MONDO:0859238 hypoalphalipoproteinemia, primary, 2, intermediate OMIM:619836 MONDO:equivalentTo hypoalphalipoproteinemia, primary, 2, intermediate -MONDO:0859239 chilton-okur-chung neurodevelopmental syndrome OMIM:619841 MONDO:equivalentTo chilton-okur-chung neurodevelopmental syndrome -MONDO:0859240 intellectual developmental disorder with or without peripheral neuropathy OMIM:619844 MONDO:equivalentTo intellectual developmental disorder with or without peripheral neuropathy -MONDO:0859241 neurodegeneration, childhood-onset, with progressive microcephaly OMIM:619847 MONDO:equivalentTo neurodegeneration, childhood-onset, with progressive microcephaly -MONDO:0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities OMIM:619854 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities -MONDO:0859244 phosphoribosylaminoimidazole carboxylase deficiency OMIM:619859 MONDO:equivalentTo phosphoribosylaminoimidazole carboxylase deficiency MONDO:0859246 leukodystrophy, childhood-onset, remitting OMIM:619864 MONDO:equivalentTo leukodystrophy, childhood-onset, remitting -MONDO:0859247 neurocardiofaciodigital syndrome OMIM:619869 MONDO:equivalentTo neurocardiofaciodigital syndrome MONDO:0859248 corneal dystrophy, punctiform and polychromatic pre-descemet OMIM:619871 MONDO:equivalentTo corneal dystrophy, punctiform and polychromatic pre-descemet -MONDO:0859249 parenti-mignot neurodevelopmental syndrome OMIM:619873 MONDO:equivalentTo parenti-mignot neurodevelopmental syndrome -MONDO:0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures OMIM:619876 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures -MONDO:0859251 dentici-novelli neurodevelopmental syndrome OMIM:619877 MONDO:equivalentTo dentici-novelli neurodevelopmental syndrome -MONDO:0859252 neurodevelopmental disorder with poor growth and skeletal anomalies OMIM:619880 MONDO:equivalentTo neurodevelopmental disorder with poor growth and skeletal anomalies -MONDO:0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay OMIM:619884 MONDO:equivalentTo osteoporosis, childhood- or juvenile-onset, with developmental delay MONDO:0859254 hepatorenocardiac degenerative fibrosis OMIM:619902 MONDO:equivalentTo hepatorenocardiac degenerative fibrosis -MONDO:0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive OMIM:619903 MONDO:equivalentTo peripheral motor neuropathy, childhood-onset, biotin-responsive -MONDO:0859256 neurodevelopmental disorder with language delay and seizures OMIM:619908 MONDO:equivalentTo neurodevelopmental disorder with language delay and seizures -MONDO:0859257 intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism OMIM:619911 MONDO:equivalentTo intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism -MONDO:0859258 neurodevelopmental disorder with dystonia and seizures OMIM:619922 MONDO:equivalentTo neurodevelopmental disorder with dystonia and seizures -MONDO:0859260 dworschak-punetha neurodevelopmental syndrome OMIM:619955 MONDO:equivalentTo dworschak-punetha neurodevelopmental syndrome -MONDO:0859261 attention deficit-hyperactivity disorder 8 OMIM:619957 MONDO:equivalentTo attention deficit-hyperactivity disorder 8 -MONDO:0859262 acces syndrome OMIM:619959 MONDO:equivalentTo acces syndrome -MONDO:0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures OMIM:619964 MONDO:equivalentTo developmental delay, impaired speech, and behavioral abnormalities, with or without seizures MONDO:0859264 congenital myopathy 11 OMIM:619967 MONDO:equivalentTo congenital myopathy 11 -MONDO:0859265 neurodevelopmental disorder with epilepsy and brain atrophy OMIM:619971 MONDO:equivalentTo neurodevelopmental disorder with epilepsy and brain atrophy -MONDO:0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy OMIM:619972 MONDO:equivalentTo neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy -MONDO:0859267 tumor predisposition syndrome 2 OMIM:619975 MONDO:equivalentTo tumor predisposition syndrome 2 MONDO:0859271 glycosylphosphatidylinositol biosynthesis defect 25 OMIM:619985 MONDO:equivalentTo glycosylphosphatidylinositol biosynthesis defect 25 -MONDO:0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies OMIM:619989 MONDO:equivalentTo neurodevelopmental disorder with speech delay and variable ocular anomalies MONDO:0859273 liver disease, severe congenital OMIM:619991 MONDO:equivalentTo liver disease, severe congenital -MONDO:0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies OMIM:619995 MONDO:equivalentTo neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies -MONDO:0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities OMIM:620001 MONDO:equivalentTo neurodevelopmental disorder with spasticity, seizures, and brain abnormalities -MONDO:0859276 primordial dwarfism-immunodeficiency-lipodystrophy syndrome OMIM:620005 MONDO:equivalentTo primordial dwarfism-immunodeficiency-lipodystrophy syndrome -MONDO:0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects OMIM:620007 MONDO:equivalentTo intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects -MONDO:0859278 keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM:620009 MONDO:equivalentTo keratoderma-ichthyosis-deafness syndrome, autosomal recessive -MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 OMIM:620011 MONDO:equivalentTo spinal muscular atrophy, distal, autosomal recessive, 6 -MONDO:0859280 developmental delay, hypotonia, and impaired language OMIM:620012 MONDO:equivalentTo developmental delay, hypotonia, and impaired language MONDO:0859281 intellectual developmental disorder with autism and dysmorphic facies OMIM:620021 MONDO:equivalentTo intellectual developmental disorder with autism and dysmorphic facies -MONDO:0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures OMIM:620023 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures -MONDO:0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities OMIM:620024 MONDO:equivalentTo neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities -MONDO:0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay OMIM:620027 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, short stature, and speech delay -MONDO:0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures OMIM:620029 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures -MONDO:0859287 neurodevelopmental disorder with microcephaly, hypotonia, and absent language OMIM:620038 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, hypotonia, and absent language -MONDO:0859288 bone marrow failure and diabetes mellitus syndrome OMIM:620044 MONDO:equivalentTo bone marrow failure and diabetes mellitus syndrome MONDO:0859289 intestinal dysmotility syndrome OMIM:620045 MONDO:equivalentTo intestinal dysmotility syndrome MONDO:0859290 familial apolipoprotein gene cluster deletion syndrome OMIM:620058 MONDO:equivalentTo familial apolipoprotein gene cluster deletion syndrome -MONDO:0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders OMIM:620065 MONDO:equivalentTo developmental delay, behavioral abnormalities, and neuropsychiatric disorders -MONDO:0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment OMIM:620066 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment -MONDO:0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties OMIM:620070 MONDO:equivalentTo neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties -MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss OMIM:620071 MONDO:equivalentTo neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss -MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities OMIM:620073 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities -MONDO:0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly OMIM:620075 MONDO:equivalentTo neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly -MONDO:0859300 neuronopathy, distal hereditary motor, iia 10 OMIM:620080 MONDO:equivalentTo neuronopathy, distal hereditary motor, iia 10 -MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects OMIM:620083 MONDO:equivalentTo neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects MONDO:0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 OMIM:620085 MONDO:equivalentTo hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 -MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features OMIM:620086 MONDO:equivalentTo intellectual developmental disorder with ocular anomalies and distinctive facial features -MONDO:0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction OMIM:620089 MONDO:equivalentTo neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction -MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia OMIM:620094 MONDO:equivalentTo neurodevelopmental disorder with eye movement abnormalities and ataxia -MONDO:0859306 developmental delay with variable intellectual disability and dysmorphic facies OMIM:620098 MONDO:equivalentTo developmental delay with variable intellectual disability and dysmorphic facies MONDO:0859307 cleidocranial dysplasia 2 OMIM:620099 MONDO:equivalentTo cleidocranial dysplasia 2 -MONDO:0859310 orofaciodigital syndrome 19 OMIM:620107 MONDO:equivalentTo orofaciodigital syndrome 19 -MONDO:0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities OMIM:620113 MONDO:equivalentTo neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities -MONDO:0859313 neurodevelopmental disorder with speech impairment and with or without seizures OMIM:620114 MONDO:equivalentTo neurodevelopmental disorder with speech impairment and with or without seizures MONDO:0859315 fatty liver disease, protection from OMIM:620116 MONDO:equivalentTo fatty liver disease, protection from -MONDO:0859316 iron overload, susceptibility to OMIM:620121 MONDO:equivalentTo iron overload, susceptibility to -MONDO:0859317 pseudohypoaldosteronism, iia ib2, autosomal recessive OMIM:620125 MONDO:equivalentTo pseudohypoaldosteronism, iia ib2, autosomal recessive -MONDO:0859318 pseudohypoaldosteronism, iia ib3, autosomal recessive OMIM:620126 MONDO:equivalentTo pseudohypoaldosteronism, iia ib3, autosomal recessive MONDO:0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis OMIM:620138 MONDO:equivalentTo myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis -MONDO:0859324 developmental delay, language impairment, and ocular abnormalities OMIM:620141 MONDO:equivalentTo developmental delay, language impairment, and ocular abnormalities -MONDO:0859330 oocyte maturation defect 13 OMIM:620154 MONDO:equivalentTo oocyte maturation defect 13 -MONDO:0859331 rabin-pappas syndrome OMIM:620155 MONDO:equivalentTo rabin-pappas syndrome MONDO:0859335 congenital myopathy 15 OMIM:620161 MONDO:equivalentTo congenital myopathy 15 MONDO:0859336 muscular dystrophy, congenital, with or without seizures OMIM:620166 MONDO:equivalentTo muscular dystrophy, congenital, with or without seizures -MONDO:0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome OMIM:620186 MONDO:equivalentTo branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome -MONDO:0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities OMIM:620191 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities -MONDO:0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies OMIM:620194 MONDO:equivalentTo neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies -MONDO:0859351 obesity and hypopigmentation OMIM:620195 MONDO:equivalentTo obesity and hypopigmentation MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses OMIM:620199 MONDO:equivalentTo inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0859359 blood group, er OMIM:620207 MONDO:equivalentTo blood group, er -MONDO:0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia OMIM:620210 MONDO:equivalentTo neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia -MONDO:0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures OMIM:620224 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures -MONDO:0859368 short qt syndrome 7 OMIM:620231 MONDO:equivalentTo short qt syndrome 7 -MONDO:0859369 joint contractures, osteochondromas, and b-cell lymphoma OMIM:620232 MONDO:equivalentTo joint contractures, osteochondromas, and b-cell lymphoma MONDO:0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM:620233 MONDO:equivalentTo respiratory infections, recurrent, and failure to thrive with or without diarrhea -MONDO:0859371 rhabdomyolysis, susceptibility to, 1 OMIM:620235 MONDO:equivalentTo rhabdomyolysis, susceptibility to, 1 -MONDO:0859375 developmental delay with hypotonia, myopathy, and brain abnormalities OMIM:620240 MONDO:equivalentTo developmental delay with hypotonia, myopathy, and brain abnormalities -MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM:620242 MONDO:equivalentTo neurodevelopmental disorder with poor growth and behavioral abnormalities MONDO:0859389 knobloch syndrome OMIMPS:267750 MONDO:equivalentTo Knobloch syndrome -MONDO:0859477 spermatogenic failure, x-linked, 5 OMIM:301099 MONDO:equivalentTo spermatogenic failure, x-linked, 5 -MONDO:0859478 spermatogenic failure, x-linked, 6 OMIM:301101 MONDO:equivalentTo spermatogenic failure, x-linked, 6 MONDO:0859514 congenital myopathy 18 OMIM:620246 MONDO:equivalentTo congenital myopathy 18 MONDO:0859515 congenital myopathy 10b, mild variant OMIM:620249 MONDO:equivalentTo congenital myopathy 10b, mild variant -MONDO:0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM:620250 MONDO:equivalentTo neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive OMIM:620265 MONDO:equivalentTo congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia OMIM:620269 MONDO:equivalentTo leukodystrophy, hypomyelinating, 26, with chondrodysplasia -MONDO:0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities OMIM:620270 MONDO:equivalentTo neurodevelopmental disorder with absent speech and movement and behavioral abnormalities -MONDO:0859520 mitochondrial complex 4 deficiency, nuclear iia 23 OMIM:620275 MONDO:equivalentTo mitochondrial complex 4 deficiency, nuclear iia 23 -MONDO:0859521 oocyte maturation defect 14 OMIM:620276 MONDO:equivalentTo oocyte maturation defect 14 -MONDO:0859522 spermatogenic failure 81 OMIM:620277 MONDO:equivalentTo spermatogenic failure 81 MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant OMIM:620278 MONDO:equivalentTo congenital myopathy 2c, severe infantile, autosomal dominant -MONDO:0859524 deafness, autosomal dominant 86 OMIM:620280 MONDO:equivalentTo deafness, autosomal dominant 86 -MONDO:0859525 deafness, autosomal dominant 87 OMIM:620281 MONDO:equivalentTo deafness, autosomal dominant 87 MONDO:0859526 immunodeficiency 109 with lymphoproliferation OMIM:620282 MONDO:equivalentTo immunodeficiency 109 with lymphoproliferation -MONDO:0859527 deafness, autosomal dominant 88 OMIM:620283 MONDO:equivalentTo deafness, autosomal dominant 88 -MONDO:0859528 deafness, autosomal dominant 89 OMIM:620284 MONDO:equivalentTo deafness, autosomal dominant 89 -MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile OMIM:620285 MONDO:equivalentTo amyotrophic lateral sclerosis 27, juvenile -MONDO:0859530 myopathy, sarcoplasmic body OMIM:620286 MONDO:equivalentTo myopathy, sarcoplasmic body -MONDO:0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures OMIM:620292 MONDO:equivalentTo neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures MONDO:0859532 congenital heart defects, multiple types, 9 OMIM:620294 MONDO:equivalentTo congenital heart defects, multiple types, 9 MONDO:0859533 myopathy, congenital (see also nemaline myopathy ({ps161800}), myofibrillar myopathy ({ps601419}), and centronuclear myopathy ({ps160150}) OMIMPS:117000 MONDO:equivalentTo Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) MONDO:0859563 hyper-ige recurrent infection syndrome 1, autosomal dominant OMIM:147060 MONDO:equivalentTo hyper-ige recurrent infection syndrome 1, autosomal dominant MONDO:0018037 @@ -225,3 +64,4 @@ MONDO:0859575 atelis syndrome 1 OMIM:620184 MONDO:equivalentTo atelis syndrome 1 MONDO:0859576 atelis syndrome 2 OMIM:620185 MONDO:equivalentTo atelis syndrome 2 MONDO:0859393|MONDO:0000141 MONDO:0859577 lacrimoauriculodentodigital syndrome 2 OMIM:620192 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 2 MONDO:0007872 MONDO:0859578 lacrimoauriculodentodigital syndrome 3 OMIM:620193 MONDO:equivalentTo lacrimoauriculodentodigital syndrome 3 MONDO:0007872 +MONDO:0859738 myopathy, centronuclear, 1 OMIM:160150 MONDO:equivalentTo myopathy, centronuclear, 1 MONDO:0018947